Brugada syndrome: report of the second consensus conference

NARCIS (Netherlands)

Antzelevitch, Charles; Brugada, Pedro; Borggrefe, Martin; Brugada, Josep; Brugada, Ramon; Corrado, Domenico; Gussak, Ihor; LeMarec, Herve; Nademanee, Koonlawee; Perez Riera, Andres Ricardo; Shimizu, Wataru; Schulze-Bahr, Eric; Tan, Hanno; Wilde, Arthur

2005-01-01

Since its introduction as a clinical entity in 1992, the Brugada syndrome has progressed from being a rare disease to one that is second only to automobile accidents as a cause of death among young adults in some countries. Electrocardiographically characterized by a distinct ST-segment elevation in

Síndrome de Brugada durante el embarazo

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Eduardo Reyna Villasmil

2013-09-01

Full Text Available El síndrome de Brugada es una causa común de muerte súbita de origen cardiaco. Los cambios electrocardiográficos característicos del síndrome están relacionados con las alteraciones de los canales de sodio. Las características clínicas y moleculares del síndrome han progresado rápidamente desde la descripción inicial. Existen escasos reportes de esta enfermedad en el embarazo. Se describe un caso de síndrome de Brugada durante el embarazo en una mujer joven que se presentó con síncope y taquicardia ventricular. Brugada syndrome during pregnancy Brugada syndrome is a common cause of cardiac-origin sudden death. The characteristic electrocardiographic changes of the syndrome are linked to sodium channel alterations. Clinical and molecular characterization of the syndrome has progressed rapidly since its initial description. There are few reports of this disease in pregnancy. We describe a case of revelation of Brugada syndrome during pregnancy in a young woman who presented syncope and ventricular tachycardia.

Clinical aspects and prognosis of Brugada syndrome in children

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Probst, Vincent; Denjoy, Isabelle; Meregalli, Paola G.; Amirault, Jean-Christophe; Sacher, Frederic; Mansourati, Jacques; Babuty, Dominique; Villain, Elisabeth; Victor, Jacques; Schott, Jean-Jacques; Lupoglazoff, Jean-Marc; Mabo, Philippe; Veltmann, Christian; Jesel, Laurence; Chevalier, Philippe; Clur, Sally-Ann B.; Haissaguerre, Michel; Wolpert, Christian; Le Marec, Herve; Wilde, Arthur A. M.

2007-01-01

BACKGROUND: Brugada syndrome is an arrhythmogenic disease characterized by an ECG pattern of ST-segment elevation in the right precordial leads and augmented risk of sudden cardiac death. Little is known about the clinical presentation and prognosis of this disease in children. METHODS AND RESULTS:

'Brugada ECG' elicited by imipramine overdose

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van den Berg, M. P.; Tulleken, J. E.; Wilde, A. A. M.

2004-01-01

The ECG hallmark of the Brugada syndrome is ST-segment elevation in the right precordial leads. However, a 'Brugada ECG' may also occasionally be caused by other conditions. We report a case of a Brugada ECG due to an overdose of imipramine, a tricyclic antidepressant. The patient, a 66-year-old

Brugada syndrome unmasked by accidental inhalation of gasoline vapors

DEFF Research Database (Denmark)

Kranjcec, Darko; Bergovec, Mijo; Rougier, Jean-Sébastien

2007-01-01

Loss-of-function mutations in the gene SCN5A can cause Brugada syndrome (BrS), which is an inherited form of idiopathic ventricular fibrillation. We report the case of a 46-year-old patient, with no previous medical history, who had ventricular fibrillation after accidental inhalation of gasoline...

[The Brugada Syndrome in a Teenager].

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Miklashevich, I M; Kuleshova, E V; Termosesov, S A; Shkolnikova, M A

2017-02-01

The Brugada syndrome (BS) belongs to the group of hereditary channelopathies associated with elevated risk of sudden death (SD) in the absence of structural heart diseases. The disorder phenotypically manifests by specific electrocardiographic pattern, associated with ventricular tachycardia (VT). VT can be accompanied by loss of conscience, and after transformation to ventricular fibrillation result in SD. BS is extremely rare among children and adolescents. We present here a clinical case of teenager (age 17 years) with BS manifested by syncopal state at the background of fever.

A Report of Brugada Syndrome Presenting with Cardiac Arrest Triggered by Verapamil Intoxication.

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Yakut, Kahraman; Erdoğan, İlkay; Varan, Birgül; Atar, İlyas

2017-12-01

Brugada syndrome is a disease characterized by a specific electrocardiographic pattern and an increased risk of sudden cardiac death. We present this case with the updated literature to emphasise the need to consider the diagnosis of Brugada syndrome in patients admitted to the emergency ward with sudden cardiac arrest. A 16-year-old female patient was admitted to the emergency ward with complaints of weakness and abdominal pain, and she had four cardiac arrests during her evaluation period. She was referred to our clinic for permanent pacemaker implantation. She was on a temporary pace maker after having had C-reactive protein. Her physical exam was normal except for bilaterally decreased lung sounds. Lung x-ray and computed tomography, which were performed by another institution, revealed minimal pleural effusion and nothing else of significance. Blood and peritoneal fluid samples were sterile. Echocardiographic exam and cardiac enzymes were also in the normal ranges. Electrocardiographic showed incomplete right branch block in leads V1 and V2. An ajmaline test revealed specific electrocardiographic findings of the type I Brugada pattern. We proposed implanting an implantable cardioverter defibrillator to the patient as there were positive findings on the ajmaline test as well as a history of sudden cardiac arrest. After this treatment proposal, the patient's family admitted that she had taken a high dose of verapamil and thus, the encountered bradycardia was associated with verapamil overuse. The ajmaline test was repeated as it was contemplated that the previous positive ajmaline test had been associated with verapamil overuse. Implantable cardioverter defibrillator implantation was proposed again as there was a history of sudden cardiac arrest; however, the family did not consent to implantable cardioverter defibrillator, and the patient was discharged and followed up. Brugada syndrome should be considered for patients who are admitted to the emergency ward

Brugada Syndrome: Are we doing enough to prevent sudden death?

International Nuclear Information System (INIS)

Buksh, Jahangir A.; Al-Hersi, Ahmad S.; Al-Nozha, Mansour M.

2007-01-01

Burgada syndrome (BS) is an inherited arrythmogenic disease characterized by typical ECG changes in the form of an SR pattern in VI to V2, and ST segment elevation in VI to V3 and prolongation of the QT interval in right precordial leads. This syndrome carries an increased risk of sudden death due to arrhythmias. This disease was first described in 1992 by Joseph Brugada et al and was named Brugada syndrome by Yan and Antzelvich in 1996. By 2003 more than 600 patients had been reported by Brugada et al and hundreds by others. A genetic aspect to BS is now recognized and been linked to the alpha subunit of the cardiac sodium channel gene SCN5A. Over five dozen mutations in SCN5A have been identified. Accentuation of the right ventricular notch under pathophysiological conditions leads to exaggeration of the J-wave or J-point elevation and a saddle-shaped configuration of the repolarisation waves. Diagnosis is essentially by electrocardiogram either by spontaneous changes or by provocation by sodium channel blockers drugs, e.g., procainamide, flecainide. The role of electrophysiological studies in induction of arrhythmia in asymptomatic individuals by electron beam computed tomography and signal-averaged electrocardiogram is not settled. Unfortunately, an effective drug is not available is not available at present, but quinidine has a place in treatment. New promising drugs are emerging like cilostazol and tedisamil. At present, implantation of an ICD is the only effective means of preventing sudden death. (author)

The Brugada Syndrome Unmasked by Fever in a Two-Year-Old Child: Case Report

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Ghandi

2016-02-01

Full Text Available Introduction Brugada syndrome (BrS is an autosomal-dominant inherited cardiac arrhythmia that occurs due to sodium channelopathy and increases sudden cardiac death due to episodes of polymorphic ventricular tachyarrhythmia. It is characterized by ST-segment elevation in the right precordial leads and right bundle branch block (RBBB pattern. We herewith present a case of Brugada syndrome with an unusual presentation. Case Presentation A 2.5-year-old girl with a history of quadriplegic cerebral palsy was admitted due to aspiration pneumonia. Cardiovascular examination and echocardiography was normal. She had a history of surgery for gastro esophageal reflux disease and was under treatment with pantoprazole. Electrocardiogram revealed ST-segment elevation in the right precordial leads (V1 - V3. The patient died during hospitalization due to cardiac arrest before any intervention. Conclusions The most important feature of Brugada syndrome is clinically suspicion. Therefore it should be considered in cases with uncontrolled seizures, stroke, refractory seizures, recurrent syncope, repeated attacks VT and conduct disorders like RBBB in the absence of structural cardiac and metabolic disorders.

Cellular mechanisms underlying the effects of milrinone and cilostazol to suppress arrhythmogenesis associated with Brugada syndrome.

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Szél, Tamás; Koncz, István; Antzelevitch, Charles

2013-11-01

Brugada syndrome is an inherited disease associated with vulnerability to ventricular tachycardia and sudden cardiac death in young adults. Milrinone and cilostazol, oral phosphodiesterase (PDE) type III inhibitors, have been shown to increase L-type calcium channel current (ICa) and modestly increase heart rate by elevating the level of intracellular cyclic adenosine monophosphate. To examine the effectiveness of these PDE inhibitors to suppress arrhythmogenesis in an experimental model of Brugada syndrome. Action potential (AP) and electrocardiographic recordings were obtained from epicardial and endocardial sites of coronary-perfused canine right ventricular wedge preparations. The Ito agonist NS5806 (5 μM) and Ca(2+) channel blocker verapamil (2 μM) were used to pharmacologically mimic Brugada phenotype. The combination induced all-or-none repolarization at some epicardial sites but not others, leading to ST-segment elevation as well as an increase in both epicardial and transmural dispersion of repolarization. Under these conditions, phase 2 reentry developed as the epicardial AP dome propagated from sites where it was maintained to sites at which it was lost, generating closely coupled extrasystoles and ventricular tachycardia. The addition of the PDE inhibitor milrinone (2.5 μM) or cilostazol (5-10 μM) to the coronary perfusate restored the epicardial AP dome, reduced dispersion, and abolished phase 2 reentry-induced extrasystoles and ventricular tachycardia. Our study identifies milrinone as a more potent alternative to cilostazol for reversing the repolarization defects responsible for the electrocardiographic and arrhythmic manifestations of Brugada syndrome. Both drugs normalize ST-segment elevation and suppress arrhythmogenesis in experimental models of Brugada syndrome. © 2013 Heart Rhythm Society. All rights reserved.

A Report of Brugada Syndrome Presenting with Cardiac Arrest Triggered by Verapamil Intoxication

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Kahraman Yakut

2017-12-01

Full Text Available Background: Brugada syndrome is a disease characterized by a specific electrocardiographic pattern and an increased risk of sudden cardiac death. We present this case with the updated literature to emphasise the need to consider the diagnosis of Brugada syndrome in patients admitted to the emergency ward with sudden cardiac arrest. Case Report: A 16-year-old female patient was admitted to the emergency ward with complaints of weakness and abdominal pain, and she had four cardiac arrests during her evaluation period. She was referred to our clinic for permanent pacemaker implantation. She was on a temporary pace maker after having had C-reactive protein. Her physical exam was normal except for bilaterally decreased lung sounds. Lung x-ray and computed tomography, which were performed by another institution, revealed minimal pleural effusion and nothing else of significance. Blood and peritoneal fluid samples were sterile. Echocardiographic exam and cardiac enzymes were also in the normal ranges. Electrocardiographic showed incomplete right branch block in leads V1 and V2. An ajmaline test revealed specific electrocardiographic findings of the type I Brugada pattern. We proposed implanting an implantable cardioverter defibrillator to the patient as there were positive findings on the ajmaline test as well as a history of sudden cardiac arrest. After this treatment proposal, the patient’s family admitted that she had taken a high dose of verapamil and thus, the encountered bradycardia was associated with verapamil overuse. The ajmaline test was repeated as it was contemplated that the previous positive ajmaline test had been associated with verapamil overuse. Implantable cardioverter defibrillator implantation was proposed again as there was a history of sudden cardiac arrest; however, the family did not consent to implantable cardioverter defibrillator, and the patient was discharged and followed up. Conclusion: Brugada syndrome should be

The Brugada syndrome. Outcome of one case

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Maia Ivan G.

2000-01-01

Full Text Available The Brugada syndrome is a rare condition, and due to its mutating manner of presentation it may be difficult to diagnose. We report one case and discuss the diagnostic aspects and the clinical outcome of one patient with characteristic findings of this syndrome. These findings are especially defined by J-ST elevation in the right leads of serial electrocardiographic records, wide oscillations of J points and ST segments during 24-hour Holter monitoring, and nocturnal sudden death. We stress the importance of the Holter monitor findings for diagnostic complementation. Through this method it is possible to establish a correlation between vigil activities and sleep and the variability of the degree of impairment in ventricular repolarization.

Low disease prevalence and inappropriate implantable cardioverter defibrillator shock rate in Brugada syndrome

DEFF Research Database (Denmark)

Holst, Anders Gaarsdal; Jensen, Henrik Kjærulf; Eschen, Ole

2012-01-01

AimsBrugada syndrome (BrS) is an inherited channelopathy that predisposes to malignant ventricular arrhythmias and thereby syncope and sudden cardiac death. Prior studies characterizing BrS patients have used highly selected referral populations from tertiary centres and prevalence estimates have...... been carried out using electrocardiogram (ECG) surveys only. We aimed to identify and characterize all diagnosed BrS patients in Denmark (population 5.4 million).Methods and resultsBrugada syndrome patients were identified using several modalities including identification in all Danish tertiary......%) experienced inappropriate shocks during a median follow-up of 47 months. No patient died or experienced aborted sudden cardiac death during follow-up.ConclusionsWe report the first nationwide study of BrS patients. We found a low incidence of diagnosed definite BrS compared with estimates from ECG surveys...

Spatiotemporal Characteristics of QRS Complexes Enable the Diagnosis of Brugada Syndrome Regardless of the Appearance of a Type 1 ECG.

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Guillem, Maria S; Climent, Andreu M; Millet, José; Berne, Paola; Ramos, Rafael; Brugada, Josep; Brugada, Ramon

2016-05-01

The diagnosis of Brugada syndrome based on the ECG is hampered by the dynamic nature of its ECG manifestations. Brugada syndrome patients are only 25% likely to present a type 1 ECG. The objective of this study is to provide an ECG diagnostic criterion for Brugada syndrome patients that can be applied consistently even in the absence of a type 1 ECG. We recorded 67-lead body surface potential maps from 94 Brugada syndrome patients and 82 controls (including right bundle branch block patients and healthy individuals). The spatial propagation direction during the last r' wave and the slope at the end of the QRS complex were measured and compared between patients groups. Receiver-operating characteristic curves were constructed for half of the database to identify optimal cutoff values; sensitivity and specificity for these cutoff values were measured in the other half of the database. A spontaneous type 1 ECG was present in only 30% of BrS patients. An orientation in the sagittal plane ECG recordings can enable a robust identification of BrS even without the presence of a type 1 ECG. © 2016 Wiley Periodicals, Inc.

Brugada syndrome is associated with scar and endocardial involvement: Insights from high-density mapping with the Rhythmia™ mapping system.

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Providência, Rui; Carmo, Pedro; Moscoso Costa, Francisco; Cavaco, Diogo; Morgado, Francisco; Scanavacca, Mauricio; Adragão, Pedro

2017-10-01

The authors report the first catheter ablation of Brugada syndrome in the literature using the Rhythmia™ mapping system. Learning points include: (1) low voltage areas can be documented while mapping in some individuals, suggesting that Brugada syndrome may not be a pure ion channel disorder; (2) typical long fractionated potentials can also be identified in the endocardium, supporting the need to map the endocardium in all Brugada patients requiring ablation; (3) disappearance of the typical coved pattern following ablation does not necessarily predict cure, as the patient we present experienced ventricular fibrillation recurrence a few months later. Copyright © 2017 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.

Diagnostic and genetic aspects of the Brugada and other inherited arrhythmias syndromes

NARCIS (Netherlands)

Antzelevitch, Charles; Wilde, Arthur; Eckardt, Lars; Hiraoka, Masayasu; Corrado, Domenico

2007-01-01

Doctor Wilde, presenting on behalf of himself and Dr Eckardt, discussed the role of invasive and noninvasive tests for risk stratification of Brugada syndrome. Doctor Hiraoka, presenting on behalf of Y. Yokoyama, M. Takagi, N. Aihara, K. Aonuma, and the Japan Idiopathic Ventricular Fibrillation

Brugada syndrome and calcium channel mutation in a patient with congenital deaf mutism

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Uğur Canpolat

2017-01-01

Full Text Available To the best of our knowledge, for the first time in the literature, we described a congenitally deaf-mute patient with Brugada syndrome (BrS in whom a mutation in L-type Ca+2 channel [CACNA1C (Cav1.2α1] was identified.

Brugada syndrome in a patient with amyotrophic lateral sclerosis: a case report.

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Battineni, Anusha; Gummi, Rohit; Mullaguri, Naresh; Govindarajan, Raghav

2017-07-14

Amyotrophic lateral sclerosis is a fatal neuromuscular disorder characterized by progressive death of the upper and lower motor neurons in the central nervous system. Patients with this disease die mostly as a result of respiratory failure; however, owing to prolonged survival through assisted ventilation, cardiovascular causes are increasingly responsible for mortality. We report what is to the best of our knowledge the first case of type 2 Brugada syndrome causing ventricular tachyarrhythmia and cardiac arrest in a patient with upper limb onset amyotrophic lateral sclerosis. A 48-year-old Caucasian woman with a significant past medical history of papillary thyroid carcinoma status postresection, pulmonary embolism on anticoagulation, and a recent diagnosis of right upper limb-onset amyotrophic lateral sclerosis presented to the emergency department of our hospital with acute on chronic shortness of breath. On further evaluation, she was found to have hypoxic and hypercapnic respiratory failure and was placed on bilevel positive airway pressure ventilation. Her 12-lead electrocardiogram showed sinus rhythm with J-point elevation, saddle-shaped ST segment elevation, predominantly in V1 and V2 with no significant QTc prolongation. No troponin elevation was noted in her laboratory workup. Because she was unable to protect her airway, a decision was made to intubate her. After 1 minute of induction with etomidate and succinylcholine, she went into pulseless ventricular tachycardia and fibrillation requiring three cycles of cardiopulmonary resuscitation with high-quality chest compressions, three doses of epinephrine, and a loading dose of amiodarone prior to return of spontaneous circulation. She was further evaluated by cardiology services and was diagnosed with type 2 Brugada syndrome, for which she was started on quinidine. Her respiratory failure and the drugs she received for intubation likely caused her ventricular tachycardia to occur in conjunction with an

Síndrome de Brugada en un paciente con síncope: Presentación de un caso y revisión de la literatura Brugada syndrome in a patient with syncope: A case report and literature review

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Carlos J Jaramillo

2010-08-01

Full Text Available El síndrome de Brugada es una enfermedad autosómica dominante esporádica que afecta los canales de sodio de los miocardiocitos. Clínicamente se caracteriza por síncopes recurrentes y/o muerte súbita, que en el electrocardiograma simula un bloqueo de rama derecha, acompañado de elevación peculiar del segmento ST en las derivaciones precordiales derechas (V1, V2 y V3 sin alteración cardiaca estructural. Afecta principalmente a hombres en la cuarta década de la vida y tiene mayor prevalencia en el suroeste asiático. El caso que se describe corresponde a un paciente con antecedentes personales de síncopes, a quien se le encuentra un patrón electrocardiográfico tipo-2 de Brugada y quien además tiene un hermano con historia de síncopes. Con una prueba de mesa basculantes positivo para síncope mediado neuralmente se deja este diagnóstico, pero no se descarta la sospecha inicial de síndrome de Brugada.Brugada syndrome is a sporadic autosomal dominant genetic disease that affects cardiac sodium channels. It is clinically characterized by recurrent syncope and/or sudden death with electrocardiographic manifestations that simulate a right bundle branch block accompanied by ST-segment elevation in the right precordial leads (V1, V2 and V3 without structural cardiac changes. It mainly affects men in their fourth decade and is most prevalent in southwestern Asia. We present the case of a patient with history of syncope, type-2 Brugada electrocardiographic pattern and who has a brother also with history of syncope. The patient had a positive tilt test for neurocardiogenic syncope. He was diagnosed as neurocardiogenic syndrome, without discarding the initial suspicion of Brugada syndrome.

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

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Bezzina, Connie; Barc, Julien; Mizusawa, Yuka

2013-01-01

Brugada syndrome is a rare cardiac arrhythmia disorder, causally related to SCN5A mutations in around 20% of cases. Through a genome-wide association study of 312 individuals with Brugada syndrome and 1,115 controls, we detected 2 significant association signals at the SCN10A locus (rs10428132) a...

Pacemaker implantation in a patient with brugada and sick sinus syndrome

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Risgaard, Bjarke; Bundgaard, Henning; Jabbari, Reza

2013-01-01

Brugada syndrome (BrS) is a rare and inherited primary arrhythmic syndrome characterized by ST-segment elevations in the right precordial leads (V1-V3) with an increased risk of sudden cardiac death (SCD). Arrhythmias in BrS are often nocturne, and brady-arrhythmias are often seen in patients...... (ICD) after aborted SCD. A mutation screening revealed a SCN5A [S231CfsX251 (c.692-693delCA)] loss-of-function mutation not previously reported, and as a part of the cascade screening in relatives she was therefore referred to our clinic. In the 7 year period after PM implantation she had experienced...

Relation of the Brugada Phenocopy to Hyperkalemia (from the International Registry on Brugada Phenocopy).

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Xu, Grace; Gottschalk, Byron H; Anselm, Daniel D; Benditt, David G; Maheshwari, Ankit; Sreenivasan, Shiva; Shama, Raed Abu; Dendramis, Gregory; Barajas-Martínez, Héctor; Rubio Campal, José Manuel; Aznaurov, Sam G; Baranchuk, Adrian

2018-03-15

Brugada phenocopies (BrPs) are clinical entities that differ in etiology from true congenital Brugada syndrome but have identical electrocardiographic (ECG) patterns. Hyperkalemia is known to be one of the causes of BrP. The aim of this study was to determine the clinical characteristics and evolution of hyperkalemia-induced BrP. Data from 27 cases of hyperkalemia-induced BrP were collected from the International Registry at www.brugadaphenocopy.com. Data were extracted from publications. Of the 27 patients included in the analysis, 18 (67%) were male; mean age was 53 ± 15 years (range 31 to 89). Mean serum potassium concentration was 7.45 ± 0.89 mmol/L. Type-1 Brugada ECG pattern was observed in 21 cases (78%), whereas 6 cases (22%) showed a type-2 Brugada ECG pattern. The Brugada ECG pattern resolved once the hyperkalemia was corrected, with no arrhythmic events. Estimated time to resolution was 7 ± 3 hours. In 4 cases (16%), a concurrent metabolic abnormality was detected: 3 (11%) presented with acidosis, 2 (7%) with hyponatremia, 1 (4%) with hypocalcaemia, 1 (4%) with hyperphosphatemia, and 1 (4%) with hyperglycemia. In 7 cases (26%), provocative testing using sodium channel blockers was performed, and all failed to reproduce a BrS ECG pattern (BrP class A). Additionally, no sudden cardiac death or malignant ventricular arrhythmias were detected. Hyperkalemia was found a common cause of BrP in our International Registry. The Brugada ECG pattern appears to occur at high serum potassium concentrations (>6.5 mmol/L). The ECG normalizes within hours of correcting the electrolyte imbalance. Importantly, hyperkalemia-induced BrP has not been associated with sudden cardiac death or ventricular arrhythmia. Copyright © 2017 Elsevier Inc. All rights reserved.

Brugada-Phenocopy Induced by Propafenone Overdose and Successful Treatment: A Case Report

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Mehmet Emre Arı

2017-10-01

Full Text Available Background: Brugada syndrome is an inherited arrhythmogenic disease that may cause sudden cardiac death due to ventricular fibrillation in young adults. Brugada syndrome caused by propafenone intoxication has been noted rarely in the literature. We report a rare case, Brugada phenocopy due to propafenone intoxication and its treatment. Case Report: A 15-year-old girl having a seizure was brought to the emergency room. She took 1.5 g propafenone (Rythmol, Abbott, Chicago, IL, USA for suicidal intention. She had metabolic acidosis. Long QRS interval and ST elevation in leads V1 through V3 were seen on electrocardiography. After bicarbonate infusion for 4 hours, haemodynamic and neurologic findings were recovered, and all electrocardiography abnormalities disappeared. The Brugada-like electrocardiography pattern was not recognized in her surface and 24-hour Holter electrocardiography at follow-up. Ajmaline challenge test was negative 2 weeks later. Conclusion: Absence of symptoms and documented ventricular tachycardia, negative challenge test, and a negative family history demonstrated that the Brugada phenocopy was a transient finding in this case and related to propafenone intoxication

Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome

DEFF Research Database (Denmark)

Delpón, Eva; Cordeiro, Jonathan M; Núñez, Lucía

2008-01-01

INTRODUCTION: The Brugada Syndrome (BrS), an inherited syndrome associated with a high incidence of sudden cardiac arrest, has been linked to mutations in four different genes leading to a loss of function in sodium and calcium channel activity. Although the transient outward current (I......(to)) is thought to play a prominent role in the expression of the syndrome, mutations in I(to)-related genes have not been identified as yet. METHODS AND RESULTS: One hundred and five probands with BrS were screened for ion channel gene mutations using single strand conformation polymorphism (SSCP...

Brugada sign in a patient with hyperkalemia due to rhabdomyolysis in hypothermia.

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Tomcsányi, Kristóf; Tomcsányi, János

The Brugada sign may appear as an indication of severe hyperkalemia. This phenomena has recently been called as the "Brugada phenocopy". Hyperthermia and hypothermia may lead to rhabdomyolysis. Rhabdomyolysis is a syndrome characterized by muscle necrosis and the release of intracellular muscle constituents into the circulation. We present a case where rhabdomyolysis-related delayed hyperkalemia showed Brugada sign on the ECG mimicking ventricular tachycardia. Copyright © 2016 Elsevier Inc. All rights reserved.

Brugada syndrome unmasked by accidental inhalation of gasoline vapors.

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Kranjcec, Darko; Bergovec, Mijo; Rougier, Jean-Sébastien; Raguz, Miroslav; Pavlovic, Sonja; Jespersen, Thomas; Castella, Vincent; Keller, Dagmar I; Abriel, Hugues

2007-10-01

Loss-of-function mutations in the gene SCN5A can cause Brugada syndrome (BrS), which is an inherited form of idiopathic ventricular fibrillation. We report the case of a 46-year-old patient, with no previous medical history, who had ventricular fibrillation after accidental inhalation of gasoline vapors. His electrocardiogram (ECG) showed a typical type-1 BrS pattern that persisted after the acute event. Genetic investigations allowed the identification of a novel SCN5A mutation leading to a frame-shift and early termination of the channel protein. Biochemical and cellular electrophysiology experiments confirmed the loss-of-function of the mutant allele. The patient was implanted with a cardioverter/defibrillator.

Coexistence of Wolff-Parkinson-white and Brugada syndrome: mere curiosity?

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Kaiser, Elisabeth; Sacilotto, Luciana; Darrieux, Francisco; Sosa, Eduardo

2014-09-01

The association between Brugada syndrome (BS) and ventricular preexcitation is a rare condition, with sporadic cases already reported. We report the case of a 29-year-old man, with palpitation unrelated to physical or emotional stress. The electrocardiogram of the first visit revealed a ventricular preexcitation pattern and an end-conduction delay, with negative T wave in V1 and intraventricular conduction disturbance in V2 (atypical for BS). The typical aspect of BS occurred after introduction of propafenone for the prevention of atrioventricular tachycardia. We discuss the recognition of this rare association, the proarrhythmic effects of some drugs, treatment options, and prognosis. © 2014 Wiley Periodicals, Inc.

Methods for Improving the Diagnosis of a Brugada ECG Pattern.

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Gottschalk, Byron H; Garcia-Niebla, Javier; Anselm, Daniel D; Glover, Benedict; Baranchuk, Adrian

2016-03-01

Brugada syndrome (BrS) is an inherited channelopathy that predisposes individuals to malignant arrhythmias and can lead to sudden cardiac death. The condition is characterized by two electrocardiography (ECG) patterns: the type-1 or "coved" ECG and the type-2 or "saddleback" ECG. Although the type-1 Brugada ECG pattern is diagnostic for the condition, the type-2 Brugada ECG pattern requires differential diagnosis from conditions that produce a similar morphology. In this article, we present a case that is suspicious but not diagnostic for BrS and discuss the application of ECG methodologies for increasing or decreasing suspicion for a diagnosis of BrS. © 2015 Wiley Periodicals, Inc.

A Novel Anaesthetical Approach to Patients with Brugada Syndrome in Neurosurgery

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Pietro Paolo Martorano

2013-01-01

Full Text Available Brugada syndrome (BrS is one of the most common causes of sudden death in young people. It usually presents with life-threatening arrhythmias in subjects without remarkable medical history. The need for surgical treatment may unmask BrS in otherwise asymptomatic patients. The best anaesthesiological treatment in such cases is matter of debate. We report a case of neurosurgical treatment of cerebello pontine angle (CPA tumor in a BrS patient, performed under total intravenous anesthesia (TIVA with target controlled infusion (TCI modalities, using midazolam plus remifentanil and rocuronium, without recordings of intraoperative ECG alterations in the intraoperative period and postoperative complications.

New methodologies for measuring Brugada ECG patterns cannot differentiate the ECG pattern of Brugada syndrome from Brugada phenocopy.

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Gottschalk, Byron H; Garcia-Niebla, Javier; Anselm, Daniel D; Jaidka, Atul; De Luna, Antoni Bayés; Baranchuk, Adrian

2016-01-01

Brugada phenocopies (BrP) are clinical entities characterized by ECG patterns that are identical to true Brugada syndrome (BrS), but are elicited by various clinical circumstances. A recent study demonstrated that the patterns of BrP and BrS are indistinguishable under the naked eye, thereby validating the concept that the patterns are identical. The aim of our study was to determine whether recently developed ECG criteria would allow for discrimination between type-2 BrS ECG pattern and type-2 BrP ECG pattern. Ten ECGs from confirmed BrS (aborted sudden death, transformation into type 1 upon sodium channel blocking test and/or ventricular arrhythmias, positive genetics) cases and 9 ECGs from confirmed BrP were included in the study. Surface 12-lead ECGs were scanned, saved in JPEG format for blind measurement of two values: (i) β-angle; and (ii) the base of the triangle. Cut-off values of ≥58° for the β-angle and ≥4mm for the base of the triangle were used to determine the BrS ECG pattern. Mean values for the β-angle in leads V1 and V2 were 66.7±25.5 and 55.4±28.1 for BrS and 54.1±26.5 and 43.1±16.1 for BrP respectively (p=NS). Mean values for the base of the triangle in V1 and V2 were 7.5±3.9 and 5.7±3.9 for BrS and 5.6±3.2 and 4.7±2.7 for BrP respectively (p=NS). The β-angle had a sensitivity of 60%, specificity of 78% (LR+ 2.7, LR- 0.5). The base of the triangle had a sensitivity of 80%, specificity of 40% (LR+ 1.4, LR- 0.5). New ECG criteria presented relatively low sensitivity and specificity, positive and negative predictive values to discriminate between BrS and BrP ECG patterns, providing further evidence that the two patterns are identical. Copyright © 2016 Elsevier Inc. All rights reserved.

A Novel SCN5A Mutation in a Patient with Coexistence of Brugada Syndrome Traits and Ischaemic Heart Disease

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Holst, Anders G; Calloe, Kirstine; Jespersen, Thomas

2009-01-01

Brugada syndrome (BrS) is a primary electrical heart disease, which can lead to sudden cardiac death. In older patients with BrS, the disease may coexist with ischaemic heart disease (IHD) and recent studies support a synergistic proarrhythmic effect of the two disease entities. We report a case...

Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association

NARCIS (Netherlands)

Antzelevitch, Charles; Brugada, Pedro; Borggrefe, Martin; Brugada, Josep; Brugada, Ramon; Corrado, Domenico; Gussak, Ihor; LeMarec, Herve; Nademanee, Koonlawee; Perez Riera, Andres Ricardo; Shimizu, Wataru; Schulze-Bahr, Eric; Tan, Hanno; Wilde, Arthur

2005-01-01

Since its introduction as a clinical entity in 1992, the Brugada syndrome has progressed from being a rare disease to one that is second only to automobile accidents as a cause of death among young adults in some countries. Electrocardiographically characterized by a distinct ST-segment elevation in

Specificity of elevated intercostal space ECG recording for the type 1 Brugada ECG pattern

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Holst, Anders G; Tangø, Mogens; Batchvarov, Velislav

2012-01-01

Right precordial (V1-3) elevated electrode placement ECG (EEP-ECG) is often used in the diagnosis of Brugada syndrome (BrS). However, the specificity of this has only been studied in smaller studies in Asian populations. We aimed to study this in a larger European population.......Right precordial (V1-3) elevated electrode placement ECG (EEP-ECG) is often used in the diagnosis of Brugada syndrome (BrS). However, the specificity of this has only been studied in smaller studies in Asian populations. We aimed to study this in a larger European population....

Inferior ST-Elevation Acute Myocardial Infarction or an Inferior-Lead Brugada-like Electrocardiogram Pattern Associated With the Use of Pregabalin and Quetiapine?

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Brunetti, Natale D; Ieva, Riccardo; Correale, Michele; Cuculo, Andrea; Santoro, Francesco; Guaricci, Andrea I; De Gennaro, Luisa; Gaglione, Antonio; Di Biase, Matteo

2016-01-01

The Brugada electrocardiogram pattern is characterized by coved-type ST-elevation (>2 mm) in the right precordial leads. We report the case of a 62-year-old man, with bipolar disorder, admitted to the emergency department because of dyspnea and chest discomfort. The patient was on treatment with pregabalin and quetiapine. Unexpectedly, electrocardiogram at admission showed diffuse ST-elevation, more evident in inferior leads, where a Brugada-like pattern was present. The patient underwent coronary angiography with a diagnosis of suspected acute coronary syndrome. Coronary angiography, however, showed mild coronary artery disease not requiring coronary angioplasty. Echocardiography did not reveal left ventricular dysfunction or pericardial effusion. Troponin levels remained normal over serial controls. Eventually, chest radiography showed lung opacities and consolidation suggestive for pneumonia. To the best of our knowledge, this is one of the first cases showing a transient Brugada-like electrocardiogram pattern in inferior leads, probably amplified by the administration of pregabalin and quetiapine.

Value of the electrocardiogram in the diagnosis and prognosis of Brugada syndrome

International Nuclear Information System (INIS)

Perez-Riera, A; Femenia, F.; Baranchuk Facc, A

2011-01-01

Twelve-lead ECG associated to high right para sternal accessory leads is the resource that yields a greatest number of diagnostic and prognostic information in patients carriers of Brugada (Br S). By this simple, cheap, reproducible, and operator-independent method, depolarization alterations can be studied as well as ventricular re polarization aspects. The method allows diagnosing frequent episodes of atrial fibrillation and other supraventricular arrhythmias, as well as characterizing the different ventricular tachyarrhythmias. The analysis of the Frank VCG (F-VCG) of patients with Br S suggests the duality of the underlying pathophysiologic mechanisms of the Brugada Type-1 ECG pattern. F-VCG of patients with Brugada type-1 ECG pattern has distinctive characteristics from the F-VCG of individuals with R BBB pattern. The understanding of these mechanisms may help to guide future therapeutic efforts to control the channels dysfunction associated with this intriguing channelopaty

Flecainide provocation reveals concealed brugada syndrome in a long QT syndrome family with a novel L1786Q mutation in SCN5A

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Kanters, Jørgen K.; Yuan, Lei; Hedley, Paula L

2014-01-01

BACKGROUND: Mutations in SCN5A can result in both long QT type 3 (LQT3) and Brugada syndrome (BrS), and a few mutations have been found to have an overlapping phenotype. Long QT syndrome is characterized by prolonged QT interval, and a prerequisite for a BrS diagnosis is ST elevation in the right...... interval. The proband presented with an aborted cardiac arrest, and his mother died suddenly and unexpectedly at the age of 65. Flecainide treatment revealed coved ST elevation in all mutation carriers. Electrophysiological investigations of the mutant in HEK293 cells indicated a reduced peak current...

Yellow phosphorus-induced Brugada phenocopy.

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Dharanipradab, Mayakrishnan; Viswanathan, Stalin; Kumar, Gokula Raman; Krishnamurthy, Vijayalatchumy; Stanley, Daphene Divya

Metallic phosphides (of aluminum and phosphide) and yellow phosphorus are commonly used rodenticide compounds in developing countries. Toxicity of yellow phosphorus mostly pertains to the liver, kidney, heart, pancreas and the brain. Cardiotoxicity with associated Brugada ECG pattern has been reported only in poisoning with metallic phosphides. Brugada phenocopy and hepatic dysfunction were observed in a 29-year-old male following yellow phosphorus consumption. He had both type 1 (day1) and type 2 (day2) Brugada patterns in the electrocardiogram, which resolved spontaneously by the third day without hemodynamic compromise. Toxins such as aluminum and zinc phosphide have been reported to induce Brugada ECG patterns due to the generation of phosphine. We report the first case of yellow phosphorus-related Brugada phenocopy, without hemodynamic compromise or malignant arrhythmia. Copyright © 2017 Elsevier Inc. All rights reserved.

Patrón de Brugada tipo II desencadenado por fiebre secundaria a una pielonefritis aguda por Enterobacter aerogenes.

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Gema García García

2013-03-01

Brugada syndrome is a cause of sudden cardiac death in patients without structural heart disease. This syndrome is associated with mutations in the genes encoding the alpha subunit of the sodium channel of the heart. The Brugada syndrome is an autosomal dominant defect in cardiac conduction, which up to one third of patients is caused by mutations in the SCN5A gene. It is characterized by ST segment changes in leads V1-V3 resembling a right bundle branch block and confers high risk for ventricular arrhythmias and death súbita.

Numerous Brugada syndrome-associated genetic variants have no effect on J-point elevation, syncope susceptibility, malignant cardiac arrhythmia, and all-cause mortality

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Ghouse, Jonas; Have, Christian T; Skov, Morten W

2017-01-01

PURPOSE: We investigated whether Brugada syndrome (BrS)-associated variants identified in the general population have an effect on J-point elevation as well as whether carriers of BrS variants were more prone to experience syncope and malignant ventricular arrhythmia and had increased mortality c...

Brugada-like Precordial ST Elevation on ECG by Anterior Mediastinal Infective Mass Lesion

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Yuji Nakazato

2003-07-01

Full Text Available Several causes are known to induce the right precordial ST elevation mimicking Brugada syndrome. Right ventricular outflow area is assumed to be responsible for such ECG changes. We experienced a case of anterior mediastinal infective mass lesion with a Brugada-like ECG. A 52-year-old female, who has pulmonary stenosis and recurrent episodes of right ventricular heart failure, complained of high fever, abdominal discomfort, and edema. On physical examination, jugular vein dilation, hepatomegaly, and facial and leg edema were noted. Leucocytosis was also noted on blood examination. An ECG showed right ventricular hypertrophy, incomplete right bundle branch block pattern and marked ST elevation on precordial leads mimicking Brugada syndrome. Magnetic resonance imaging revealed an abnormal mass shadow located on the anterior mediastinum and compressing the right ventricle (Figure 1A. Trans-thoracic echocardiography also showed the high echogenic mass lesion at the anterior side of right ventricle and the vicinity of pulmonary valve. After treatment with antibiotics, the mass lesion gradually shrunk. Concomitantly, the ST elevation disappeared with improvement of inflammatory markers (Figure 1B. The symptoms suggesting right ventricular failure were also ameliorated. The mechanism of Brugada-like ST elevation in this patient was considered to be compression, by the abnormal infective mass, of the right ventricular outflow tract with/without focal pericardial inflammation.

Usefulness of ST elevation score by using vector-projected virtual 187-channel ECG for risk stratification in patients with Brugada-type ECG pattern

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Shoko Ishikawa

2012-08-01

Conclusion: The ST elevation score in VP-ECG objectively documented the degree of ST elevation in surface ECG in Brugada-type ECG patterns. The ST-elevation score might be useful for risk stratification in patients with asymptomatic Brugada syndrome.

Massive Electrical Storm at Disease Onset in a Patient with Brugada Syndrome

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Pallisgaard, Jannik L; Gang, Uffe; Kanters, Jørgen K.

2014-01-01

Background Brugada syndrome (BrS) is a genetic arrhythmogenic disease characterized by ST-segment elevations in the right precordial leads of the electrocardiogram (ECG). These ECG changes may be concealed and BrS may present with electrical storm characterized by recurrent ventricular tachycardia...... and fibrillation. Case Report A 49-year-old previously healthy man was admitted with electrical storm. The patient received direct current (DC) cardioversion shocks and only after intravenous lidocaine did the electrical storm slowly subside with a total of 255 DC shocks administered during the first 24 h after...... admission. He fully recovered and received an implantable cardioverter-defibrillator. Subsequent drug challenge with flecainide revealed type 1 BrS. Conclusions Massive electrical storm can be the first symptom of BrS and the diagnostic ECG changes may be concealed at presentation. Although hundreds of DC...

A danger of induction of Brugada syndrome during pill-in-the-pocket therapy for paroxysmal atrial fibrillation

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Yoshiyasu Aizawa

2010-08-01

Full Text Available Yoshiyasu Aizawa, Tomohiro Matsuhashi, Toshiaki Sato, Seiji Takatsuki, Keiichi FukudaDivision of Cardiology, Keio University School of Medicine, Tokyo, JapanAbstract: Rhythm control therapy by sodium channel blockers is widely performed for the ­treatment of paroxysmal atrial fibrillation. Here, we present a case of acquired Brugada ­syndrome by pill-in-the-pocket treatment using pilsicainide. It is important that this therapy should be applied only after confirming the drug safety to the patients.Keywords: syncope, sudden death, drug, rhythm control, pilsicainide, atrial flutter

Massive electrical storm at disease onset in a patient with Brugada syndrome.

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Pallisgaard, Jannik L; Gang, Uffe; Kanters, Jørgen K; Hansen, Peter R

2014-12-16

Brugada syndrome (BrS) is a genetic arrhythmogenic disease characterized by ST-segment elevations in the right precordial leads of the electrocardiogram (ECG). These ECG changes may be concealed and BrS may present with electrical storm characterized by recurrent ventricular tachycardia and fibrillation. A 49-year-old previously healthy man was admitted with electrical storm. The patient received direct current (DC) cardioversion shocks and only after intravenous lidocaine did the electrical storm slowly subside with a total of 255 DC shocks administered during the first 24 h after admission. He fully recovered and received an implantable cardioverter-defibrillator. Subsequent drug challenge with flecainide revealed type 1 BrS. Massive electrical storm can be the first symptom of BrS and the diagnostic ECG changes may be concealed at presentation. Although hundreds of DC shocks may be required during initial treatment, full recovery can be achieved.

C-Reactive Protein Levels in the Brugada Syndrome

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Aimé Bonny

2011-01-01

Full Text Available Background. Inflammation in the Brugada syndrome (BrS and its clinical implication have been little studied. Aims. To assess the level of inflammation in BrS patients. Methods. All studied BrS patients underwent blood samples drawn for C-reactive protein (CRP levels at admission, prior to any invasive intervention. Patients with a previous ICD placement were controlled to exclude those with a recent (<14 days shock. We divided subjects into symptomatic (syncope or aborted sudden death and asymptomatic groups. In a multivariable analysis, we adjusted for significant variables (age, CRP ≥ 2 mg/L. Results. Fifty-four subjects were studied (mean age 45 ± 13 years, 49 (91% male. Twenty (37% were symptomatic. Baseline characteristics were similar in both groups. Mean CRP level was 1,4 ± 0,9 mg/L in asymptomatic and 2,4 ± 1,4 mg/L in symptomatic groups (P = .003. In the multivariate model, CRP concentrations ≥ 2 mg/L remained an independent marker for being symptomatic (P = .018; 95% CI: 1.3 to 19.3. Conclusion. Inflammation seems to be more active in symptomatic BrS. C-reactive protein concentrations ≥ 2 mg/L might be associated with the previous symptoms in BrS. The value of inflammation as a risk factor of arrhythmic events in BrS needs to be studied.

Utility of Different Electrocardiographical Leads during Diagnostic Ajmaline Test for Suspected Brugada Syndrome

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Batchvarov V. N.

2009-12-01

Full Text Available In order to compare the value of different leads and lead combinations to detect the signature Brugada type ECG pattern, we analysed digital 10-second, 15-lead ECGs (12 standard leads + leads V1 to V3 from 3rd intercostal (i.c. space, V1h to V3h acquired during diagnostic Ajmaline testing in 128 patients (80 men, age 37±15 years with suspected Brugada syndrome (BS (patient group, 15-lead resting ECGs of 108 healthy subjects (53 men, age 31.9±10.5 years (control group A and standard 12-lead resting ECGs of 229 healthy subjects (111 men, age 33±4 years (control group B. Bipolar leads between V2 (positive pole and V4 or V5 (leads V2-4V2-5 were derived by subtracting leads V4 and V5 from V2 (custom-made program. The 6 peripheral, 6 right precordial leads (V1 to V3, V1h to V3h and leads V2-4 and V2-5 of the patients group, leads V1h to V3h of control group A, and leads V2-4 and V2-5 of control group B were analysed for the presence of type 1 Brugada pattern. There were 21 (16.4% positive and 107 (83.6% negative Ajmaline tests. In 7 positive tests (33%, type 1 pattern appeared only in leads V1h to V3h, whereas in 14 tests 67% it appeared in both V1 to V3 and V1h to V3h. Lead V2 displayed type 1 pattern during 10 positive tests; in all of them, plus 10 other positive tests type 1 was also noted in lead V2h (n=20, 95.2%. In all 10 cases, in which lead V2 exhibited type 1 pattern (n=10, lead V2-4 and/or V2-5 also exhibited type 1-like pattern. During 7 positive tests, in which lead V2h but not V2 exhibited type 1 pattern, lead V2-4 and/or V2-5 also demonstrated type 1 pattern. Type 1 pattern was observed in leads V3 and V3h during 1 (5% and 5 (24% positive tests, in 0 ECGs (0% in control group A and in 1 ECG (0.4% in control group B. In conclusion, the "high" V1 and V2 leads (3rd i.c. space detect more sensitively Brugada type 1 pattern than the standard V1 and V2 leads (4th i.c. space; leads V3 and V3h are not essential for the diagnosis of BS

Anesthetic and Perioperative Management of Patients With Brugada Syndrome.

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Dendramis, Gregory; Paleologo, Claudia; Sgarito, Giuseppe; Giordano, Umberto; Verlato, Roberto; Baranchuk, Adrian; Brugada, Pedro

2017-09-15

Brugada syndrome (BrS) is an arrhythmogenic disease reported to be one among the leading causes of cardiac death in subjects under the age of 40 years. In these patients, episodes of lethal arrhythmias may be induced by several factors or situations, and for this reason, management during anesthesia and surgery must provide some precautions and drugs restrictions. To date, it is difficult to formulate guidelines for anesthetic management of patients with BrS because of the absence of prospective studies, and there is not a definite recommendation for neither general nor regional anesthesia, and there are no large studies in merit. For this reason, in the anesthesia management of patients with BrS, the decision of using each drug must be made after careful consideration and always in controlled conditions, avoiding other factors that are known to have the potential to induce arrhythmias and with a close cooperation between anesthetists and cardiologists, which is essential before and after surgery. In conclusion, given the absence of large studies in literature, we want to focus on some general rules, which resulted from case series and clinical practice, to be followed during the perioperative and anesthetic management of patients with BrS. Copyright © 2017 Elsevier Inc. All rights reserved.

Comparison of circadian, weekly, and seasonal variations of electrical storms and single events of ventricular fibrillation in patients with Brugada syndrome

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Yoshiyasu Aizawa

2016-06-01

Full Text Available In patients with Brugada syndrome (BS, VF occurred predominantly during the nocturnal period. Some patients also developed ESs. In addition to the circadian rhythm, patients showed weekly and seasonal patterns. The patients with ESs had peak episodes of VF on Saturday and in the winter and spring, while episodes of VF in patients with single VF events occurred most often on Monday with smaller seasonal variation. Except for age, there was no difference in the clinical or ECG characteristics between the patients with ESs and those with single VF episodes.

High prevalence of genetic variants previously associated with Brugada syndrome in new exome data

DEFF Research Database (Denmark)

Risgaard, B; Jabbari, R; Refsgaard, L

2013-01-01

More than 300 variants in 12 genes have been associated with Brugada syndrome (BrS) which has a prevalence ranging between 1:2000 and 1:100,000. Until recently, there has been little knowledge regarding the distribution of genetic variations in the general population. This problem was partly solved......, when exome data from the NHLI GO Exome Sequencing Project (ESP) was published. In this study, we aimed to report the prevalence of previously BrS-associated variants in the ESP population. We performed a search in ESP for variants previously associated with BrS. In addition, four variants in ESP were...... to a surprisingly high genotype prevalence of 1:23 (274:6258). Genotyping the four common ESP-derived variants CACNA2D1 S709N, SCN5A F2004L, CACNB2 S143F, and CACNB2 T450I in the Danish controls, we found a genotype prevalence comparable with that found in ESP. We suggest that exome data are used in research...

Alternative approach for management of an electrical storm in Brugada syndrome:Importance of primary ablation within a narrow time window

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Ahmed Karim Talib, MD, PhD

2016-06-01

Full Text Available Placement of an implantable cardioverter–defibrillator (ICD is the only powerful treatment modality for Brugada syndrome in patients presenting with ventricular fibrillation (VF. For those whose first presentation is an electrical storm, pharmacologic therapy is typically used to control VF followed by ICD implantation. We report an alternative approach whereby, before ICD implantation, emergency catheter ablation of the VF-triggering premature ventricular contraction (PVC resulted in long-term VF-free survival. The results suggest that, because VF triggers appear in a narrow time window, ablation of the culprit PVCs that initiate VF before the index PVCs subside is a reasonable alternative approach.

From syncope to ICD: clinical paths of the Brugada syndrome

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Ivan Comelli

2010-09-01

Full Text Available This review summarizes the evidences in the literature on the management of the Brugada syndrome (BS, an arrhythmogenic disease caused by genetic channelopathies, predisposing to syncope and sudden cardiac death in young, apparently healthy, typically male subjects, in the third and fourth decade of their life. Sudden cardiac death (SCD is defined as natural death from cardiac causes, heralded by abrupt loss of consciousness within one hour of the onset of symptoms. It ranks among the main causes of death in the western world, with an incidence ranging from 0.36 and 1.28‰ inhabitants per year, equal to 300,000 cases a year in the USA. In the majority of the cases it is due to the onset of arrhythmia in subjects with structural cardiac diseases, especially ischemic heart disease. However, in a non-negligible percentage of the cases, about 5-10%, the SCD arises in relatively young individuals in whom cardiac anomalies cannot be detected using traditional diagnostic techniques. About 20% of these cases can be attributed to SB. In spite of the many efforts produced to identify an effective pharmacological treatment, to date the only aid to reduce the mortality rate in subjects with SB is an implantable cardio-defibrillator (ICD. Since this approach often entails complications, the efforts of the scientific community is now focused on the assessment of the arrhythmic risk. The identification of high-risk subjects is one of the chief objectives in the therapeutic decision-making process. ABSTRACT clinica e terapia emergency

Beneficial Effects of Isoproterenol and Quinidine in the Treatment of Ventricular Fibrillation in Brugada Syndrome

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Melissa Dakkak

2015-01-01

Full Text Available The use of an implantable cardiac defibrillator has been advocated as the only effective treatment for the management of ventricular fibrillation (VF in patients with Brugada Syndrome (BrS. However, this device is only useful for terminating VF. Intermittent and/or recalcitrant VF for which lifesaving cardioversion occurs is a problematic situation in this patient population. The immediate use of appropriate antiarrhythmics in the acute setting has proven to be lifesaving. Quinidine has been well established as an effective antiarrhythmic in BrS, while isoproterenol (ISP has had some recognition as well. The addition of drug therapy to prevent the induction of these arrhythmias has been shown to reduce the morbidity and mortality associated with BrS. It was proven to be especially effective in the presence of early repolarization, evidenced by the reduction or normalization of the early repolarization pattern on ECG. Thus, for the prophylactic management and long term suppression of VF in BrS, further prospective studies should be performed to determine the effectiveness of quinidine and ISP in this patient population.

Brugada Phenocopy Induced by Recreational Drug Use

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Adedoyin Akinlonu

2018-01-01

Full Text Available Recreational drugs are commonly abused in all age groups. Intoxication with these substances can induce silent but significant electrocardiographic signs which may lead to sudden death. In this case study, we present a 49-year-old male with no medical comorbidities who came to the emergency department requesting opioid detoxification. Toxicology screen was positive for cocaine, heroin, and cannabis. Initial electrocardiogram (EKG showed features of a Brugada pattern in the right precordial leads, which resolved within one day into admission. This presentation is consistent with the recently recognized clinical entity known as Brugada phenocopy.

Investigations of the Navβ1b sodium channel subunit in human ventricle; functional characterization of the H162P Brugada Syndrome mutant

DEFF Research Database (Denmark)

Yuan, Lei; Koivumaki, Jussi; Liang, Bo

2014-01-01

Brugada Syndrome (BrS) is a rare inherited disease which can give rise to ventricular arrhythmia and ultimately sudden cardiac death. Numerous loss-of-function mutations in the cardiac sodium channel Nav1.5 have been associated with BrS. However, few mutations in the auxiliary Navβ1-4 subunits ha...... density was reduced by 48 % (-645±151 vs - 334±71 pA/pF), V1/2 steady-state inactivation shifted by -6.7 mV (-70.3±1.5 vs. -77.0±2.8 mV), and time-dependent recovery from inactivation slowed by more than 50% as compared to co-expression with Navβ1b WT. Computer simulations revealed...

Efficacy and safety of dextrose-insulin in unmasking non-diagnostic Brugada ECG patterns.

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Velázquez-Rodríguez, Enrique; Rodríguez-Piña, Horacio; Pacheco-Bouthillier, Alex; Jiménez-Cruz, Marcelo Paz

Typical diagnostic, coved-type 1, Brugada ECG patterns fluctuate spontaneously over time with a high proportion of non-diagnostic ECG patterns. Insulin modulates ion transport mechanisms and causes hyperpolarization of the resting potential. We report our experience with unmasking J-ST changes in response to a dextrose-insulin test. Nine patients, mean age 40.5±19.4years (range: 15-65years), presented initially with a non-diagnostic ECG pattern, which was suggestive of Brugada syndrome (group I). They were compared with 10 patients with normal ECG patterns (group II). Participants received an infusion of 50g of 50% dextrose, followed by 10IU of intravenous regular insulin. Positive changes were defined by conversion to a diagnostic ECG pattern. The dextrose-insulin test was positive in six of seven (85.7%) patients (kappa 0.79, p=0.02) that was confirmed with a pharmacologic test (kappa 1, p=0.003). One had an inconclusive test, and two with a negative test had an early repolarization ECG pattern. All subjects in group II had a negative test (pECG patterns. Copyright © 2016 Elsevier Inc. All rights reserved.

A Novel SCN5A Mutation in a Patient with Coexistence of Brugada Syndrome Traits and Ischaemic Heart Disease

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Anders G. Holst

2009-01-01

Full Text Available Brugada syndrome (BrS is a primary electrical heart disease, which can lead to sudden cardiac death. In older patients with BrS, the disease may coexist with ischaemic heart disease (IHD and recent studies support a synergistic proarrhythmic effect of the two disease entities. We report a case that illustrates this. The index patient was a middle-aged patient with BrS traits, IHD, and aborted sudden cardiac death. Mutation analysis discovered a novel mutation P468L in the NaV1.5 sodium channel. Surprisingly, voltage-clamp experiments on the wild-type and mutant NaV1.5 channels expressed in HEK cells revealed no functional effect of the mutation. In a patient like ours, the distinction between IHD and BrS as the cause of an aborted sudden cardiac death is hard to establish and mounting evidence shows that coexistence of the two may have a synergistic proarrhythmic effect.

Early repolarisation and J wave syndromes

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Kamal K. Sethi

2014-07-01

Full Text Available J wave syndrome has emerged as a significant cause of Idiopathic ventricular fibrillation (IVF responsible for sudden cardiac death. A large body of data is now available on genesis, genetics and ionic mechanisms of J wave syndromes. Two of these viz., Early repolarization syndrome (ER and Brugada syndrome (BrS are fairly well characterized enabling correct diagnosis in most patients. The first part of repolarization of ventricular myocardium is governed by Ito current i.e., rapid outward potassium current. The proposed mechanism of ventricular fibrillation (VF and ventricular tachycardia (VT storms is the faster Ito current in the epicardium than in the endocardium results in electrical gradient that forms the substrate for phase 2 reentry. Prevention of Ito current with quinidine supports this mechanism. Majority of ER patterns in young patients are benign. The key issue is to identify those at increased risk of sudden cardiac death. Association of both ER syndrome and Brugada syndrome with other disease states like coronary artery disease has also been reported. Individuals resuscitated from VF definitely need an implantable cardiac defibrillator (ICD but in others there is no consensus regarding therapy. Role of electrophysiology study to provoke ventricular tachycardia or fibrillation is not yet well defined. Radiofrequency ablation of epicardial substrate in right ventricle in Brugada syndrome is also under critical evaluation. In this review we shall discuss historical features, epidemiology, electrocardiographic features, ionic pathogenesis, clinical features and current status of proposed treatment of ER and BrS.

Electrical storm in patients with brugada syndrome is associated with early repolarization.

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Kaneko, Yoshiaki; Horie, Minoru; Niwano, Shinichi; Kusano, Kengo F; Takatsuki, Seiji; Kurita, Takashi; Mitsuhashi, Takeshi; Nakajima, Tadashi; Irie, Tadanobu; Hasegawa, Kanae; Noda, Takashi; Kamakura, Shiro; Aizawa, Yoshiyasu; Yasuoka, Ryobun; Torigoe, Katsumi; Suzuki, Hiroshi; Ohe, Toru; Shimizu, Akihiko; Fukuda, Keiichi; Kurabayashi, Masahiko; Aizawa, Yoshifusa

2014-12-01

Electrical storms (ESs) in patients with Brugada syndrome (BrS) are rare though potentially lethal. We studied 22 men with BrS and ES, defined as ≥3 episodes/d of ventricular fibrillation (VF) and compared their characteristics with those of 110 age-matched, control men with BrS without ES. BrS was diagnosed by a spontaneous or drug-induced type 1 pattern on the ECG in the absence of structural heart disease. Early repolarization (ER) was diagnosed by J waves, ie, >0.1 mV notches or slurs of the terminal portion of the QRS complex. The BrS ECG pattern was provoked with pilsicainide. A spontaneous type I ECG pattern, J waves, and horizontal/descending ST elevation were found, respectively, in 77%, 36%, and 88% of patients with ES, versus 28% (P<0.0001), 9% (P=0.003), and 60% (P=0.06) of controls. The J-wave amplitude was significantly higher in patients with than without ES (P=0.03). VF occurred during undisturbed sinus rhythm in 14 of 19 patients (74%), and ES were controlled by isoproterenol administration. All patients with ES received an implantable cardioverter defibrillator and over a 6.0±5.4 years follow-up, the prognosis of patients with ES was significantly worse than that of patients without ES. Bepridil was effective in preventing VF in 6 patients. A high prevalence of ER was found in a subgroup of patients with BrS associated with ES. ES appeared to be suppressed by isoproterenol or quinidine, whereas bepridil and quinidine were effective in the long-term prevention of VF in the highest-risk patients. © 2014 American Heart Association, Inc.

Prognosis after implantation of cardioverter-defibrillators in Korean patients with Brugada syndrome.

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Son, Myoung Kyun; Byeon, Kyeongmin; Park, Seung-Jung; Kim, June Soo; Nam, Gi-Byoung; Choi, Kee-Joon; Kim, You-Ho; Park, Sang Weon; Kim, Young-Hoon; Park, Hyung Wook; Cho, Jeong Gwan; On, Young Keun

2014-01-01

Our study aims to analyze prognosis after implantable cardioverter-defibrillator (ICD) implantation in Korean patients with Brugada syndrome (BrS). This was a retrospective study of BrS patients implanted with an ICD at one of four centers in Korea between January 1998 and April 2012. Sixty-nine patients (68 males, 1 female) were implanted with an ICD based on aborted cardiac arrest (n=38, 55%), history of syncope (n=17, 25%), or induced ventricular tachyarrhythmia on electrophysiologic study in asymptomatic patients (n=14, 20%). A family history of sudden cardiac death and a spontaneous type 1 electrocardiography (ECG) were noted in 13 patients (19%) and 44 patients (64%), respectively. During a mean follow-up of 59±46 months, 4.6±5.5 appropriate shocks were delivered in 19 patients (28%). Fourteen patients (20%) experienced 5.2±8.0 inappropriate shocks caused by supraventricular arrhythmia, lead failure, or abnormal sensing. Six patients were admitted for cardiac causes during follow-up, but no cardiac deaths occurred. An episode of aborted cardiac arrest was a significant predictor of appropriate shock, and the composite of cardiac events in the Cox proportional hazard model [hazard ratio (95% confidence interval) was 11.34 (1.31-97.94) and 4.78 (1.41-16.22), respectively]. However, a spontaneous type 1 ECG was not a predictor of cardiac events. Appropriate shock (28%) and inappropriate shock (20%) were noted during a mean follow-up of 59±46 months in Korean BrS patients implanted with an ICD. An episode of aborted cardiac arrest was the most powerful predictor of cardiac events.

Electrophysiological characteristics of a SCN5A voltage sensors mutation R1629Q associated with Brugada syndrome.

Directory of Open Access Journals (Sweden)

Zhipeng Zeng

Full Text Available Brugada syndrome (BrS is an inherited arrhythmogenic syndrome leading to sudden cardiac death, partially associated with autosomal dominant mutations in SCN5A, which encodes the cardiac sodium channel alpha-subunit (Nav1.5. To date some SCN5A mutations related with BrS have been identified in voltage sensor of Nav1.5. Here, we describe a dominant missense mutation (R1629Q localized in the fourth segment of domain IV region (DIV-S4 in a Chinese Han family. The mutation was identified by direct sequencing of SCN5A from the proband's DNA. Co-expression of Wild-type (WT or R1629Q Nav1.5 channel and hβ1 subunit were achieved in human embryonic kidney cells by transient transfection. Sodium currents were recorded using whole cell patch-clamp protocols. No significant changes between WT and R1629Q currents were observed in current density or steady-state activation. However, hyperpolarized shift of steady-state inactivation curve was identified in cells expressing R1629Q channel (WT: V1/2 = -81.1 ± 1.3 mV, n = 13; R1629Q: V1/2 = -101.7 ± 1.2 mV, n = 18. Moreover, R1629Q channel showed enhanced intermediate inactivation and prolonged recovery time from inactivation. In summary, this study reveals that R1629Q mutation causes a distinct loss-of-function of the channel due to alter its electrophysiological characteristics, and facilitates our understanding of biophysical mechanisms of BrS.

Analyses of a novel SCN5A mutation (C1850S): conduction vs. repolarization disorder hypotheses in the Brugada syndrome

DEFF Research Database (Denmark)

Petitprez, Séverine; Jespersen, Thomas; Pruvot, Etienne

2008-01-01

S SCN5A mutation. METHODS AND RESULTS: SCN5A was screened for mutations in a male patient with type-1 BrS pattern ECG. Wild-type (WT) and mutant Na(v)1.5 channels were expressed in HEK293 cells. Sodium currents (I(Na)) were analysed using the whole-cell patch-clamp technique at 37 degrees C......AIMS: Brugada syndrome (BrS) is characterized by arrhythmias leading to sudden cardiac death. BrS is caused, in part, by mutations in the SCN5A gene, which encodes the sodium channel alpha-subunit Na(v)1.5. Here, we aimed to characterize the biophysical properties and consequences of a novel Br....... The electrophysiological effects of the mutation were simulated using the Luo-Rudy model, into which the transient outward current (I(to)) was incorporated. A new mutation (C1850S) was identified in the Na(v)1.5 C-terminal domain. In HEK293 cells, mutant I(Na) density was decreased by 62% at -20 mV. Inactivation of mutant...

The prevalence and relevance of the Brugada-type electrocardiogram in the Danish general population: data from the Copenhagen City Heart Study

DEFF Research Database (Denmark)

Pecini, Redi; Cedergreen, Pernille Kallerup; Theilade, Simone

2010-01-01

The prevalence of the Brugada-type electrocardiogram (ECG) in the Danish population is not known.......The prevalence of the Brugada-type electrocardiogram (ECG) in the Danish population is not known....

Cost-effectiveness of genotyping in inherited arrhythmia syndromes: are we getting value for the money?

NARCIS (Netherlands)

Wilde, Arthur A. M.; Pinto, Yigal M.

2009-01-01

Over the last decade, the identification of the diverse genetic basis of most important inherited arrhythmia syndromes has remarkably changed our attitude toward these life-threatening diseases. Just over 10 years ago, long-QT syndrome (LQTS) was considered one disease entity, Brugada -QT syndrome

Absence of family history and phenotype-genotype correlation in pediatric Brugada syndrome: more burden to bear in clinical and genetic diagnosis.

Science.gov (United States)

Daimi, Houria; Khelil, Amel Haj; Ben Hamda, Khaldoun; Aranega, Amelia; Chibani, Jemni B E; Franco, Diego

2015-06-01

Brugada syndrome (BrS) is an autosomal-dominant genetic cardiac disorder caused in 18-30 % of the cases by SCN5A gene mutations and manifested by an atypical right bundle block pattern with ST segment elevation and T wave inversion in the right precordial leads. The syndrome is usually detected after puberty. The identification of BrS in pediatric patients is thus a rare occurrence, and most of the reported cases are unmasked after febrile episodes. Usually, having a family history of sudden death represents the first reason to perform an ECG in febrile children. However, this practice makes the sporadic cases of cardiac disease and specially the asymptomatic ones excluded from this diagnosis. Here, we report a sporadic case of a 2-month-old male patient presented with vaccination-related fever and ventricular tachycardia associated with short breathing, palpitation and cold sweating. ECG changes were consistent with type 1 BrS. SCN5A gene analysis of the proband and his family revealed a set of mutations and polymorphisms differentially distributed among family members, however, without any clear genotype-phenotype correlation. Based on our findings, we think that genetic testing should be pursued as a routine practice in symptomatic and asymptomatic pediatric cases of BrS, with or without family history of sudden cardiac death. Similarly, our study suggests that pediatrician should be encouraged to perform an ECG profiling in suspicious febrile children and quickly manage fever since it is the most important factor unmasking BrS in children.

Cohort of Patients Referred for Brugada Syndrome Investigation in an Electrophysiology Service - 19-Year Registry

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Stefan Warpechowski Neto

2018-06-01

Full Text Available Abstract Background: Brugada syndrome (SBr is an arrhythmic condition characterized by ST-T segment abnormalities in the right precordial leads associated with a high risk of ventricular arrhythmias and sudden death. Local data regarding the clinical characteristics of patients with a typical electrocardiographic (ECG pattern undergoing electrophysiological study are scarce. Objective: To evaluate patients with an ECG pattern suggestive of SBr referred for electrophysiological evaluation in a specialized center. Methods: Cohort study of patients referred for electrophysiological study because of an ECG pattern compatible with SBr between January 1998 and March 2017. Results: Of the 5506 procedures, 35 (0.64% were for SBr investigation, 25 of which (71.42% were performed in men. The mean age was 43.89 ± 13.1 years. The ECG patterns were as follows: type I, 22 (62.85%; type II, 12 (34.30%; and type III, 1 (2.85%. Twenty-three patients (65.7% were asymptomatic, 6 (17.14% had palpitations, 5 (14.3% had syncope, and 3 (8.6% had a family history of sudden death. Electrophysiological study induced ventricular tachyarrhythmias in 16 cases (45.7%, the mean ventricular refractory period being 228 ± 36 ms. Ajmaline / procainamide was used in 11 cases (31.4%, changing the ECG pattern to type I in 7 (63.6%. Sixteen cases (45.7% received an implantable cardioverter defibrillator (ICD. In a mean 5-year follow-up, 1 of the 16 patients (6.25% with ICD had appropriate therapy for ventricular fibrillation. There was no death. Other arrhythmias occurred in 4 (11.4% cases. Conclusions: Most patients are men, and a type I ECG pattern is the main indication for electrophysiological study. Class IA drugs have a high ECG conversion rate. The ICD event rate was 6%. (Arq Bras Cardiol. 2018; [online].ahead print, PP.0-0

General anaesthesia for insertion of an automated implantable cardioverter defibrillator in a child with Brugada and autism

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Shwetal Goraksha

2010-01-01

Full Text Available A 14-year-old autistic boy presented with acute gastroenteritis and hypotension. The electrocardiogram showed a ventricular fibrillation rhythm - he went into cardiorespiratory arrest and was immediately resuscitated. On investigation, the electrocardiogram showed a partial right bundle branch block with a "coved" pattern of ST elevation in leads v 1 -v 3 . A provisional diagnosis of Brugada syndrome was made, for which an automated implantable cardioverter defibrillator (AICD implantation was advised. Although the automated implantable cardioverter defibrillator implantation is usually performed under sedation, because this was an autistic child, he needed general anaesthesia. We performed the procedure uneventfully under general anaesthesia and he was discharged after a short hospital stay.

Diagnostic Dilemma in Allergy and Coronary Syndromes: Kounis Syndrome or Adrenaline Effect?

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Ebru Atike Ongun

2018-04-01

Full Text Available Management of anaphylaxis includes adrenaline, a life-saving drug, however appropriate dosing and administration are of crucial importance due to serious side effects. We present a 15-year-old female with anaphylactic reaction manifesting as acute coronary syndrome and pulmonary edema following the administration of adrenaline as an intravenous bolus. Focusing on anaphylaxis, adrenaline and coronary symptoms, this report discussed the interactions between three intertwining entities: Kounis syndrome, Takotsubo cardiomyopathy, and adrenaline-induced coronary vasospasm, and challenges in differential diagnosis. Brugada syndrome (cardiac autonomic dysfunction and clinical manifestation of the patient was also evaluated. Early consideration of adrenaline at the appropriate dose and administration route is essential in anaphylaxis management. Kounis syndrome should be considered in those presenting with allergy symptoms and chest pain and adrenaline should be used carefully due to possible risks of worsening coronary symptoms in patients with Kounis syndrome. This report also highlights a very rare side effect of adrenaline; the drug, which constitutes the cornerstone of anaphylaxis management, has a potential to trigger allergy itself due to metabisulfite-containing preservative.

[Application of Bayes Probability Model in Differentiation of Yin and Yang Jaundice Syndromes in Neonates].

Science.gov (United States)

Mu, Chun-sun; Zhang, Ping; Kong, Chun-yan; Li, Yang-ning

2015-09-01

To study the application of Bayes probability model in differentiating yin and yang jaundice syndromes in neonates. Totally 107 jaundice neonates who admitted to hospital within 10 days after birth were assigned to two groups according to syndrome differentiation, 68 in the yang jaundice syndrome group and 39 in the yin jaundice syndrome group. Data collected for neonates were factors related to jaundice before, during and after birth. Blood routines, liver and renal functions, and myocardial enzymes were tested on the admission day or the next day. Logistic regression model and Bayes discriminating analysis were used to screen factors important for yin and yang jaundice syndrome differentiation. Finally, Bayes probability model for yin and yang jaundice syndromes was established and assessed. Factors important for yin and yang jaundice syndrome differentiation screened by Logistic regression model and Bayes discriminating analysis included mothers' age, mother with gestational diabetes mellitus (GDM), gestational age, asphyxia, or ABO hemolytic diseases, red blood cell distribution width (RDW-SD), platelet-large cell ratio (P-LCR), serum direct bilirubin (DBIL), alkaline phosphatase (ALP), cholinesterase (CHE). Bayes discriminating analysis was performed by SPSS to obtain Bayes discriminant function coefficient. Bayes discriminant function was established according to discriminant function coefficients. Yang jaundice syndrome: y1= -21. 701 +2. 589 x mother's age + 1. 037 x GDM-17. 175 x asphyxia + 13. 876 x gestational age + 6. 303 x ABO hemolytic disease + 2.116 x RDW-SD + 0. 831 x DBIL + 0. 012 x ALP + 1. 697 x LCR + 0. 001 x CHE; Yin jaundice syndrome: y2= -33. 511 + 2.991 x mother's age + 3.960 x GDM-12. 877 x asphyxia + 11. 848 x gestational age + 1. 820 x ABO hemolytic disease +2. 231 x RDW-SD +0. 999 x DBIL +0. 023 x ALP +1. 916 x LCR +0. 002 x CHE. Bayes discriminant function was hypothesis tested and got Wilks' λ =0. 393 (P =0. 000). So Bayes

Colorectal choriocarcinoma in a patient with probable Lynch syndrome

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Viktor Hendrik Koelzer

2016-11-01

Full Text Available Background: Personalized therapy of colorectal cancer (CRC is influenced by morphological, molecular and host-related factors. Here we report the comprehensive clinicopathological and molecular analysis of a pure extra-gestational colorectal choriocarcinoma in a patient with probable Lynch syndrome.Case presentation: A 61 year old female with history of gastric cancer at age 36 presented with a transmurally invasive tumor of the right hemicolon and liver metastasis. A right hemicolectomy was performed. Histopathological analysis showed a mixed trophoblastic and syncytiotrophoblastic differentiation, consistent with choriocarcinoma. Disease progression was rapid under oxaliplatin, capecitabine, irinotecan (XELOXIRI and bevacizumab. Molecular phenotyping identified loss of the mismatch-repair (MMR protein PMS2, microsatellite instability, a lack of MLH1 promoter methylation and lack of of BRAF mutation suggestive of Lynch-Syndrome. Targeted next generation sequencing revealed an Ataxia Telangiectasia Mutated (ATM p.P604S missense mutation. A bleomycin, etoposide and cisplatin (BEP treatment protocol targeting germ-cell neoplasia lead to disease remission and prolonged survival of 34 months.Conclusions: Comprehensive immunohistochemical and genetic testing is essential to identify uncommon cancers possibly related to Lynch syndrome. For rare tumors, personalized therapeutic approaches should take both molecular and morphological information into account.Key words: Colorectal cancer, choriocarcinoma, histopathology, prognostic factors, Lynch syndrome, microsatellite instability, ataxia telangiectasia mutated, molecular pathology, next generation sequencing, personalized medicine

Epidural Analgesia with Ropivacaine during Labour in a Patient with a SCN5A Gene Mutation

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A. L. M. J. van der Knijff-van Dortmont

2016-01-01

Full Text Available SCN5A gene mutations can lead to ion channel defects which can cause cardiac conduction disturbances. In the presence of specific ECG characteristics, this mutation is called Brugada syndrome. Many drugs are associated with adverse events, making anesthesia in patients with SCN5A gene mutations or Brugada syndrome challenging. In this case report, we describe a pregnant patient with this mutation who received epidural analgesia using low dose ropivacaine and sufentanil during labour.

Probable Association of Tachyarrhythmia With Nebulized Albuterol in a Child With Previously Subclinical Wolff Parkinson White Syndrome

Science.gov (United States)

Kroesen, Michiel; Maseland, Machiel; Smal, Jaime; Reimer, Annet; van Setten, Petra

2012-01-01

We present the case of a 2-year-old asthmatic boy with atrioventricular (AV)-reentry tachycardia following albuterol inhalation, who was later diagnosed with Wolff-Parkinson-White (WPW) syndrome. The Naranjo adverse drug reaction probability scale score for this adverse event was 7, indicating that the association between his AV-reentry tachycardia and inhalation of albuterol is probable. To our knowledge, this is the first case report that shows the potential arrhythmogenic effects of albuterol in a child with WPW syndrome. We urge clinicians to be aware of this potentially life-threatening adverse effect and to closely monitor these patients when they need beta-adrenergic drugs in case of emergency. Furthermore, this report highlights the dilemma regarding the safe treatment of pediatric patients with both asthma and WPW syndrome. PMID:23118663

Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias

Science.gov (United States)

2017-08-10

Inherited Cardiac Arrythmias; Long QT Syndrome (LQTS); Brugada Syndrome (BrS); Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT); Early Repolarization Syndrome (ERS); Arrhythmogenic Cardiomyopathy (AC, ARVD/C); Hypertrophic Cardiomyopathy (HCM); Dilated Cardiomyopathy (DCM); Muscular Dystrophies (Duchenne, Becker, Myotonic Dystrophy); Normal Control Subjects

Differential diagnosis between early repolarization of athlete's heart and coved-type Brugada electrocardiogram.

Science.gov (United States)

Zorzi, Alessandro; Leoni, Loira; Di Paolo, Fernando M; Rigato, Ilaria; Migliore, Federico; Bauce, Barbara; Pelliccia, Antonio; Corrado, Domenico

2015-02-15

Early repolarization (ER) is typically observed in highly trained athletes as a physiologic consequence of increased vagal tone. The variant of anterior (V1 to V3) ER characterized by "domed" ST-segment elevation and negative T wave raises problems of differential diagnosis with the "coved-type" electrocardiographic pattern seen in Brugada syndrome (BS). This study was designed to identify electrocardiographic criteria for distinguishing athlete's ER from BS. The study compared the electrocardiographic tracings of 61 healthy athletes (80% men, median age 23 ± 8 years), showing "domed" ST-segment elevation and negative T wave in leads V1 to V3, with those of 92 consecutive age- and sex-matched BS patients with a "coved-type" electrocardiographic pattern. The electrocardiographic analysis focused on the ST-segment elevation at J point (STJ) and at 80 milliseconds after J point (ST₈₀). Athletes had a lower maximum amplitude of STJ (1.46 ± 0.7 vs 3.25 ± 0.6 mm, p 1) versus only 2 (3%) athletes (p <0.001). An upsloping ST-segment configuration (STJ/ST₈₀ <1) showed a sensitivity of 97%, a specificity of 100%, and a diagnostic accuracy of 98.7% for the diagnosis of ER. At multivariate analysis, STJ/ST₈₀ ratio remained the only independent predictor for ER (odds ratio 87, 95% confidence interval 19 to 357, p <0.001). In conclusion, the STJ/ST₈₀ ratio is a highly accurate electrocardiographic parameter for differential diagnosis between anterior ER of the athlete and BS. Our results may help in reducing the number of athletes who undergo expensive diagnostic workup or are unnecessarily disqualified from competition for changes that fall within the normal range of athlete's heart. Copyright © 2015 Elsevier Inc. All rights reserved.

Probable association of tachyarrhythmia with nebulized albuterol in a child with previously subclinical wolff Parkinson white syndrome

NARCIS (Netherlands)

Kroesen, M.; Maseland, M.; Smal, J.; Reimer, A.; van Setten, P.

2012-01-01

We present the case of a 2-year-old asthmatic boy with atrioventricular (AV)-reentry tachycardia following albuterol inhalation, who was later diagnosed with Wolff-Parkinson-White (WPW) syndrome. The Naranjo adverse drug reaction probability scale score for this adverse event was 7, indicating that

Sectio og Brugadas syndrom

DEFF Research Database (Denmark)

Ammundsen, Henriette Berg; Ekelund, Kim; Afshari, Arash

2016-01-01

to induce fatal arrhythmias in patients with BS and in particular sodium channel blockers i.e. local anaesthetics such as bupivacaine. We report the anaesthetic management of two women with BS during caesarean section and provide a general discussion on the use of bupivacain for neuraxial blockade...

Differential calcium sensitivity in NaV 1.5 mixed syndrome mutants.

Science.gov (United States)

Abdelsayed, Mena; Baruteau, Alban-Elouen; Gibbs, Karen; Sanatani, Shubhayan; Krahn, Andrew D; Probst, Vincent; Ruben, Peter C

2017-09-15

SCN5a mutations may express gain-of-function (Long QT Syndrome-3), loss-of-function (Brugada Syndrome 1) or both (mixed syndromes), depending on the mutation and environmental triggers. One such trigger may be an increase in cytosolic calcium, accompanying exercise. Many mixed syndromes mutants, including ∆KPQ, E1784K, 1795insD and Q1909R, are found in calcium-sensitive regions. Elevated cytosolic calcium attenuates gain-of-function properties in ∆KPQ, 1795insD and Q1909R, but not in E1784K. By contrast, elevated cytosolic calcium further exacerbates gain-of-function in E1784K by destabilizing slow inactivation. Action potential modelling, using a modified O'Hara Rudy model, suggests that elevated heart rate rescues action potential duration in ∆KPQ, 1795insD and Q1909R, but not in E1784K. Action potential simulations suggest that E1784K carriers have an increased intracellular sodium-to-calcium ratio under bradycardia and tachycardia conditions. Elevated cytosolic calcium, which is common during high heart rates, ameliorates or exacerbates the mixed syndrome phenotype depending on the genetic signature. Inherited arrhythmias may arise from mutations in the gene for SCN5a, which encodes the cardiac voltage-gated sodium channel, Na V 1.5. Mutants in Na V 1.5 result in Brugada Syndrome (BrS1), Long-QT Syndrome (LQT3) or mixed syndromes (an overlap of BrS1/LQT3). Exercise is a potential arrhythmogenic trigger in mixed syndromes. We aimed to determine the effects of elevated cytosolic calcium, which is common during exercise, in mixed syndrome Na V 1.5 mutants. We used whole-cell patch clamp to assess the biophysical properties of Na V 1.5 wild-type (WT), ∆KPQ, E1784K, 1795insD and Q1909R mutants in human embryonic kidney 293 cells transiently transfected with the Na V 1.5 α subunit (WT or mutants), β1 subunit and enhanced green fluorescent protein. Voltage-dependence and kinetics were measured at cytosolic calcium levels of approximately 0, 500 and 2500�

Probable mild Opitz trigonocephaly C syndrome

African Journals Online (AJOL)

Rabah M. Shawky

2011-12-11

Dec 11, 2011 ... brachycephaly shape to the skull, hypoplastic scrotum and bilateral undescended testes, and mild generalised ... It may occur isolated or syndromic involving other abnor- ..... [12] Sargent C, Burn J, Baraitser M, Pembrey ME.

Cardiac Channelopathies and Sudden Death: Recent Clinical and Genetic Advances

OpenAIRE

Fernández Falgueras, Anna; Sarquella Brugada, Georgia; Brugada Terradellas, Josep; Brugada, Ramon; Campuzano Larrea, Oscar

2017-01-01

Sudden cardiac death poses a unique challenge to clinicians because it may be the only symptom of an inherited heart condition. Indeed, inherited heart diseases can cause sudden cardiac death in older and younger individuals. Two groups of familial diseases are responsible for sudden cardiac death: cardiomyopathies (mainly hypertrophic cardiomyopathy, dilated cardiomyopathy, and arrhythmogenic cardiomyopathy) and channelopathies (mainly long QT syndrome, Brugada syndrome, short QT syndrome, a...

Ventricular Tachycardia in the Absence of Structural Heart Disease

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Luis R. P. Scott

2005-04-01

Full Text Available In up to 10% of patients who present with ventricular tachycardia (VT, obvious structural heart disease is not identified. In such patients, causes of ventricular arrhythmia include right ventricular outflow tract (RVOT VT, extrasystoles, idiopathic left ventricular tachycardia (ILVT, idiopathic propranolol-sensitive VT (IPVT, catecholaminergic polymorphic VT (CPVT, Brugada syndrome, and long QT syndrome (LQTS. RVOT VT, ILVT, and IPVT are referred to as idiopathic VT and generally do not have a familial basis. RVOT VT and ILVT are monomorphic, whereas IPVT may be monomorphic or polymorphic. The idiopathic VTs are classified by the ventricle of origin, the response to pharmacologic agents, catecholamine dependence, and the specific morphologic features of the arrhythmia. CPVT, Brugada syndrome, and LQTS are inherited ion channelopathies. CPVT may present as bidirectional VT, polymorphic VT, or catecholaminergic ventricular fibrillation. Syncope and sudden death in Brugada syndrome are usually due to polymorphic VT. The characteristic arrhythmia of LQTS is torsades de pointes. Overall, patients with idiopathic VT have a better prognosis than do patients with ventricular arrhythmias and structural heart disease. Initial treatment approach is pharmacologic and radiofrequency ablation is curative in most patients. However, radiofrequency ablation is not useful in the management of inherited ion channelopathies. Prognosis for patients with VT secondary to ion channelopathies is variable. High-risk patients (recurrent syncope and sudden cardiac death survivors with inherited ion channelopathies benefit from implantable cardioverter-defibrillator placement. This paper reviews the mechanism, clinical presentation, and management of VT in the absence of structural heart disease.

Channelopathies

OpenAIRE

Kim, June-Bum

2014-01-01

Channelopathies are a heterogeneous group of disorders resulting from the dysfunction of ion channels located in the membranes of all cells and many cellular organelles. These include diseases of the nervous system (e.g., generalized epilepsy with febrile seizures plus, familial hemiplegic migraine, episodic ataxia, and hyperkalemic and hypokalemic periodic paralysis), the cardiovascular system (e.g., long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ven...

Orthogonal Algorithm of Logic Probability and Syndrome-Testable Analysis

Institute of Scientific and Technical Information of China (English)

无

1990-01-01

A new method,orthogonal algoritm,is presented to compute the logic probabilities(i.e.signal probabilities)accurately,The transfer properties of logic probabilities are studied first,which are useful for the calculation of logic probability of the circuit with random independent inputs.Then the orthogonal algoritm is described to compute the logic probability of Boolean function realized by a combinational circuit.This algorithm can make Boolean function “ORTHOGONAL”so that the logic probabilities can be easily calculated by summing up the logic probabilities of all orthogonal terms of the Booleam function.

The diagnostic and therapeutic aspects of loss-of-function cardiac sodium channelopathies in children

NARCIS (Netherlands)

Chockalingam, Priya; Clur, Sally-Ann B.; Breur, Johannes M. P. J.; Kriebel, Thomas; Paul, Thomas; Rammeloo, Lukas A.; Wilde, Arthur A. M.; Blom, Nico A.

2012-01-01

BACKGROUND Loss-of-function sodium channelopathies manifest as a spectrum of diseases including Brugada syndrome (BrS) and cardiac conduction disease. OBJECTIVE To analyze the diagnostic and therapeutic aspects of these disorders in children. METHODS Patients aged <= 16 years with genetically

Cushing's Syndrome

OpenAIRE

宗, 友厚; 伊藤, 勇; 諏訪, 哲也; 武田, 純; MUNE, Tomoatsu

2003-01-01

Sixteen cases of verified Cushing's syndrome, and twelve cases of probable Cushing's syndrome were reviewed and data on them were compared with various reports on Cushing's syndrome in the literature.

The Probability of Neonatal Respiratory Distress Syndrome as a Function of Gestational Age and Lecithin/Sphingomyelin Ratio

Science.gov (United States)

St. Clair, Caryn; Norwitz, Errol R.; Woensdregt, Karlijn; Cackovic, Michael; Shaw, Julia A.; Malkus, Herbert; Ehrenkranz, Richard A.; Illuzzi, Jessica L.

2011-01-01

We sought to define the risk of neonatal respiratory distress syndrome (RDS) as a function of both lecithin/sphingomyelin (L/S) ratio and gestational age. Amniotic fluid L/S ratio data were collected from consecutive women undergoing amniocentesis for fetal lung maturity at Yale-New Haven Hospital from January 1998 to December 2004. Women were included in the study if they delivered a live-born, singleton, nonanomalous infant within 72 hours of amniocentesis. The probability of RDS was modeled using multivariate logistic regression with L/S ratio and gestational age as predictors. A total of 210 mother-neonate pairs (8 RDS, 202 non-RDS) met criteria for analysis. Both gestational age and L/S ratio were independent predictors of RDS. A probability of RDS of 3% or less was noted at an L/S ratio cutoff of ≥3.4 at 34 weeks, ≥2.6 at 36 weeks, ≥1.6 at 38 weeks, and ≥1.2 at term. Under 34 weeks of gestation, the prevalence of RDS was so high that a probability of 3% or less was not observed by this model. These data describe a means of stratifying the probability of neonatal RDS using both gestational age and the L/S ratio and may aid in clinical decision making concerning the timing of delivery. PMID:18773379

The cardiac safety of aripiprazole treatment in patients at high risk for torsade

DEFF Research Database (Denmark)

Polcwiartek, Christoffer; Sneider, Benjamin; Graff, Claus

2015-01-01

RATIONALE: Certain antipsychotics increase the risk of heart rate-corrected QT (QTc) prolongation and consequently Torsades de Pointes (TdP) and sudden cardiac death (SCD). Drug-induced Brugada syndrome (BrS) is also associated with SCD. Most SCDs occur in patients with additional cardiac risk fa...

Role of common and rare variants in SCN10A

DEFF Research Database (Denmark)

Behr, Elijah R.; Savio-Galimberti, Eleonora; Barc, Julien

2015-01-01

AIMS: Brugada syndrome (BrS) remains genetically heterogeneous and is associated with slowed cardiac conduction. We aimed to identify genetic variation in BrS cases at loci associated with QRS duration. METHODS AND RESULTS: A multi-centre study sequenced seven candidate genes (SCN10A, HAND1, PLN,...

Severe abdominal pain as a presenting symptom of probable catastrophic antiphospholipid syndrome.

Science.gov (United States)

Haskin, Orly; Amir, Jacob; Schwarz, Michael; Schonfeld, Tommy; Nahum, Elhanan; Ling, Galina; Prais, Dario; Harel, Liora

2012-07-01

Catastrophic antiphospholipid syndrome (APS) in pediatric medicine is rare. We report 3 adolescents who presented with acute onset of severe abdominal pain as the first manifestation of probable catastrophic APS. The 3 patients, 2 male patients and 1 female patient were 14 to 18 years old. One had been diagnosed with systemic lupus erythematosus in the past, but the other 2 had no previous relevant medical history. All presented with excruciating abdominal pain without additional symptoms. Physical examination was noncontributory. Laboratory results were remarkable for high inflammatory markers. Abdominal ultrasonography was normal, and abdominal computed tomography scan showed nonspecific findings of liver infiltration. Only computed tomography angiography revealed evidence of extensive multiorgan thrombosis. All patients had elevated titers of antiphospholipid antibodies. The patients were treated with full heparinization, high-dose steroids, and intravenous immunoglobulin with a resolution of symptoms. One patient was resistant to the treatment and was treated with rituximab. In conclusion, severe acute abdominal pain can be the first manifestation of a thromboembolic event owing to catastrophic APS even in previously healthy adolescents. Diagnosis requires a high index of suspicion with prompt evaluation and treatment to prevent severe morbidity and mortality.

Iatrogenic cushing syndrome secondary to a probable interaction between voriconazole and budesonide.

Science.gov (United States)

Jones, Whitney; Chastain, Cody A; Wright, Patty W

2014-07-01

Oral budesonide is commonly used for the management of Crohn's disease given its high affinity for glucocorticoid receptors and low systemic activity due to extensive first-pass metabolism through hepatic cytochrome P450 (CYP) 3A4. Voriconazole, a second-generation triazole antifungal agent, is both a substrate and potent inhibitor of CYP isoenzymes, specifically CYP2C19, CYP2C9, and CYP3A4; thus, the potential for drug-drug interactions with voriconazole is high. To our knowledge, drug-drug interactions between voriconazole and corticosteroids have not been specifically reported in the literature. We describe a 48-year-old woman who was receiving oral budesonide 9 mg/day for the management of Crohn's disease and was diagnosed with fluconazole-resistant Candida albicans esophagitis; oral voriconazole 200 mg every 12 hours for 3 weeks was prescribed for treatment. Because the patient experienced recurrent symptoms of dysphagia, a second 3-week course of voriconazole therapy was taken. Seven weeks after originally being prescribed voriconazole, she came to her primary care clinic with elevated blood pressure, lower extremity edema, and weight gain; she was prescribed a diuretic and evaluated for renal dysfunction. At a follow-up visit 6 weeks later with her specialty clinic, the patient's blood pressure was elevated, and her physical examination was notable for moon facies, posterior cervical fat pad prominence, and lower extremity pitting edema. Iatrogenic Cushing syndrome due to a drug-drug interaction between voriconazole and budesonide was suspected, and voriconazole was discontinued. Budesonide was continued as previously prescribed for her Crohn's disease. On reevaluation 2 months later, the patient's Cushingoid features had markedly regressed. To our knowledge, this is the first published case report of iatrogenic Cushing syndrome due to a probable interaction between voriconazole and oral budesonide. In patients presenting with Cushingoid features who

ST-segment elevation and ventricular tachycardia after ingestion of a common ornamental plant—a case report

Directory of Open Access Journals (Sweden)

Rami A. Jambeih

2012-03-01

This case highlights the importance of public awareness of severe toxicity from Japanese yew or other yew plants. Yews contain taxines that are responsible for the ECG abnormalities due to its inhibitory effect on the cardiac sodium and calcium channels. They cause conduction abnormalities, VT, and ST-segment elevation that can resemble acute myocardial infarction, hyperkalaemia, and Brugada syndrome.

Down Syndrome (For Kids)

Science.gov (United States)

... Changed What's Life Like for Kids With Down Syndrome? Print en español El síndrome de Down You have probably seen people who have Down syndrome. They have certain physical features, such as a ...

White blood cell and platelet count as adjuncts to standard clinical evaluation for risk assessment in patients at low probability of acute aortic syndrome.

Science.gov (United States)

Morello, Fulvio; Cavalot, Giulia; Giachino, Francesca; Tizzani, Maria; Nazerian, Peiman; Carbone, Federica; Pivetta, Emanuele; Mengozzi, Giulio; Moiraghi, Corrado; Lupia, Enrico

2017-08-01

Pre-test probability assessment is key in the approach to suspected acute aortic syndromes (AASs). However, most patients with AAS-compatible symptoms are classified at low probability, warranting further evaluation for decision on aortic imaging. White blood cell count, platelet count and fibrinogen explore pathophysiological pathways mobilized in AASs and are routinely assayed in the workup of AASs. However, the diagnostic performance of these variables for AASs, alone and as a bundle, is unknown. We tested the hypothesis that white blood cell count, platelet count and/or fibrinogen at presentation may be applied as additional tools to standard clinical evaluation for pre-test risk assessment in patients at low probability of AAS. This was a retrospective observational study conducted on consecutive patients managed in our Emergency Department from 2009 to 2014 for suspected AAS. White blood cell count, platelet count and fibrinogen were assayed during evaluation in the Emergency Department. The final diagnosis was obtained by computed tomography angiography. The pre-test probability of AAS was defined according to guidelines. Of 1210 patients with suspected AAS, 1006 (83.1%) were classified at low probability, and 271 (22.4%) were diagnosed with AAS. Within patients at low probability, presence of at least one alteration among white blood cell count >9*10 3 /µl, platelet count probability, white blood cell count >9*10 3 /µl and platelet count probability, the estimated risk of AAS based on the number of alterations amongst white blood cell count >9*10 3 /µl and platelet count probability to fine-tune risk assessment of AAS.

Probable Opitz trigonocephaly C syndrome with medulloblastoma

Energy Technology Data Exchange (ETDEWEB)

Omran, H.; Hildebrandt, F.; Brandis, M. [Freiburg Univ. (Germany)] [and others

1997-04-14

We report on a patient with trigonocephaly, biparietal widening as a result of metopic synostosis, strabismus, upslanted palpebral fissures, apparently low-set ears with abnormal helices, deeply furrowed palate, postaxial polysyndactyly of the feet, ankle flexion deformities, cryptorchidism, loose skin, and severe mental retardation, findings compatible with a diagnosis of the Opitz trigonocephaly C syndrome (OTS). At the age of 12 years this patient presented with symptoms of raised intracranial pressure. A biopsy showed findings diagnostic of a medulloblastoma WHO Grade IV, an unprecedented finding in OTS. The possibility of coincidence should not prevent continued surveillance of OTS patients in the future for the occurrence of malignancy. 33 refs., 4 figs., 1 tab.

Infectious mononucleosis-like syndrome probably attributable to Coxsackie A virus infection.

Science.gov (United States)

Cunha, Burke A; Mickail, Nardeen; Petelin, Andrew P

2012-01-01

Infectious mononucleosis (IM) is a clinical syndrome most often attributable to Epstein-Barr virus (EBV). Characteristic clinical features of EBV IM include bilateral upper lid edema, exudative or nonexudative pharyngitis, bilateral posterior cervical adenopathy, and splenomegaly ± maculopapular rash. Laboratory features of EBV IM include atypical lymphocytes and elevated levels of serum transaminases. Leukopenia and thrombocytopenia are not uncommon. The syndrome of IM may also be attributable to other infectious diseases, eg, cytomegalovirus (CMV), human herpes virus-6 (HHV-6), or Toxoplasma gondii. Less commonly, viral hepatitis, leptospirosis, brucellosis, or parvovirus B(19) may present as an IM-like infection. To the best of our knowledge, only 2 cases of IM-like infections attributable to Coxsackie B viruses (B(3) and B(4)) have been reported. We present the first reported case of an IM-like syndrome with sore throat, fatigue, atypical lymphocytes, and elevated levels of serum transaminases likely due to Coxsackie A in an immunocompetent adult. Copyright © 2012 Elsevier Inc. All rights reserved.

New autosomal dominant syndrome reminiscent of Coffin-Siris syndrome and Brachymorphism-Onychodysplasia-Dysphalangism syndrome.

Science.gov (United States)

Elliott, A M; Teebi, A S

2000-01-01

We report a man and his two daughters (one stillborn) with an apparently unique constellation of anomalies including fifth finger/toe terminal phalanx and nail hypoplasia. The craniofacial manifestations include large boxy head, round face, hypertelorism with downslanting palpebral fissures and wide mouth. Other manifestations include brachydactyly, fifth finger clinodactyly and ventricular septal defect. Intelligence is normal. The resemblance to Coffin-Siris, Brachymorphism-Onychodysplasia-Dysphalangism and DOOR syndromes is discussed and we concluded that this family probably represents a new autosomal dominant syndrome.

Short QT syndrome

Directory of Open Access Journals (Sweden)

Fiorenzo Gaita

2011-12-01

Full Text Available The short QT syndrome (SQTS is a recently described genetic arrhythmogenic disorder, characterized by abnormally short QT intervals on surface electrocardiogram (ECG and a high incidence of sudden death (SD during life, including the first months of life. The inheritance of SQTS is autosomal dominant, with genetic heterogeneity. Gain-of-function mutations in 3 genes encoding potassium channels have been associated to the disease: KCNH2 encoding IKr (SQT1, KCNQ1 encoding IKs (SQT2, and KCNJ2 encoding IK1 (SQT3. Loss-of-function mutations in 3 genes encoding the cardiac L-type calcium channel, CACNA1C, CACNB2b and CACNA2D1 may underlie a mixed phenotype of Brugada pattern ECG (or non-specific repolarization changes in case of CACNA2D1 and shorter than normal QT intervals. Clinical presentation is often severe, as cardiac arrest represents the first clinical presentation in most subjects. Moreover, often a noticeable family history of cardiac SD is present. Atrial fibrillation may be observed, also in young individuals. At electrophysiological study, short atrial and ventricular refractory periods are found, and atrial and ventricular fibrillation are easily induced by programmed electrical stimulation. The outcome of patients with SQTS becomes relatively safe when they are identified and treated. Currently, the suggested therapeutic strategy is an implantable cardioverter- defibrillator (ICD in patients with personal history of aborted SD or syncope. In asymptomatic adult patients from highly symptomatic families and in newborn children pharmacological treatment with hydroquinidine, which has been shown to prolong the QT interval and reduce the inducibility of ventricular arrhythmias, may be proposed.

The KCNE genes in hypertrophic cardiomyopathy: a candidate gene study

DEFF Research Database (Denmark)

Hedley, Paula L; Haundrup, Ole; Andersen, Paal S

2011-01-01

The gene family KCNE1-5, which encode modulating β-subunits of several repolarising K+-ion channels, has been associated with genetic cardiac diseases such as long QT syndrome, atrial fibrillation and Brugada syndrome. The minK peptide, encoded by KCNE1, is attached to the Z-disc of the sarcomere...... as well as the T-tubules of the sarcolemma. It has been suggested that minK forms part of an "electro-mechanical feed-back" which links cardiomyocyte stretching to changes in ion channel function. We examined whether mutations in KCNE genes were associated with hypertrophic cardiomyopathy (HCM), a genetic...

Rapid Disease Progression of Liver Metastases following Resection in a Liver-Transplanted Patient with Probable Lynch Syndrome – A Case Report and Review of the Literature

Directory of Open Access Journals (Sweden)

Noelle Suemi Wassano

2017-03-01

Full Text Available Solid organ transplantation provides life-saving therapy for patients with end-stage organ disease, and its outcomes have been improving dramatically over the past few decades. However, substantial morbidity results from chronic immunosuppressive therapy administered to prevent graft rejection. It predisposes patients to several life-threatening complications, such as opportunistic microbial infections and the development of different types of cancers. Here, we presented the case of a young man with probable Lynch syndrome, who developed an aggressive colon carcinoma after long-term immunosuppressive therapy due to a prior liver transplantation. Based on this case report, we attempt to find an answer to the question about the risk of cancer development or recurrence in patients with familial syndromes receiving long-term immunosuppressive therapy and to find out how it can be minimized. Answering these questions is particularly important, given the facts that disease course is substantially more aggressive among transplanted patients and that prognosis is poor due to lack of immunocompetence, especially in the setting of Lynch syndrome.

[Electrical storm].

Science.gov (United States)

Barnay, C; Taieb, J; Morice, R

2007-11-01

Electrical storm is defined as repeated occurrence of severe ventricular arrhythmias requiring multiple cardioversions, two or more or three or more following different studies. The clinical aspect can sometimes be made of multiple, self aggravating, life threatening accesses. There are three main clinical circumstances of occurrence: in patients equipped with intracardiac defibrillators, during the acute phase of myocardial infarction and in Brugada syndrome. 10 to 15% of patients with cardiac defibrillators are subject to electrical storms in a period of two years. The causative arrhythmia is most often ventricular tachycardia than ventricular fibrillation, especially in secondary prevention and if the initial arrhythmias justifying the device was a ventricular tachycardia. Precipitaing factors are present in one third of cases, mainly acute heart failure, ionic disorders and arrhythmogenic drugs. Predictive factors are age, left ventricular ejection fractionelectrical shock in 50% of cases, antitachycardi stimulation in 30% and in 20% by association of the two. Treatment, after elimination of inappropriate shocks, is mainly based on beta-blockers and amiodarone, class I antiarrhythmics, lidocaïne or bretylium in some cases, and sedation pushed to general anesthesia in some cases. Radio-frequency ablation and even heart transplantation have been proposed in extreme cases. Quinidine has been proved efficient in cases of Brugada syndrome.

Syndromic classification of rickettsioses: an approach for clinical practice

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Álvaro A. Faccini-Martínez

2014-11-01

Full Text Available Rickettsioses share common clinical manifestations, such as fever, malaise, exanthema, the presence or absence of an inoculation eschar, and lymphadenopathy. Some of these manifestations can be suggestive of certain species of Rickettsia infection. Nevertheless none of these manifestations are pathognomonic, and direct diagnostic methods to confirm the involved species are always required. A syndrome is a set of signs and symptoms that characterizes a disease with many etiologies or causes. This situation is applicable to rickettsioses, where different species can cause similar clinical presentations. We propose a syndromic classification for these diseases: exanthematic rickettsiosis syndrome with a low probability of inoculation eschar and rickettsiosis syndrome with a probability of inoculation eschar and their variants. In doing so, we take into account the clinical manifestations, the geographic origin, and the possible vector involved, in order to provide a guide for physicians of the most probable etiological agent.

Autosomal dominant cortical tremor, myoclonus, and epilepsy (ADCME: Probable first family from India

Directory of Open Access Journals (Sweden)

Chandra Mohan Sharma

2014-01-01

Full Text Available Autosomal dominant cortical tremor, myoclonus, and epilepsy (ADCME is an extremely rare syndrome characterized by familial occurrence of postural and action-induced tremors of the hands but showing electrophysiologic findings of cortical reflex myoclonus. Patients also have cognitive decline and tonic-clonic seizures, often precipitated by sleep deprivation or photic stimulation. We describe probably the first family from India of this ill-defined syndrome.

Marfan Syndrome

Science.gov (United States)

... can treat many of its symptoms. Thanks to new research and treatments, people with Marfan syndrome who are diagnosed early ... This helps doctors stay on top of any new problems. Doctors might also ... or kids with amblyopia or strabismus will probably need to wear glasses. ...

[The refeeding syndrome].

Science.gov (United States)

Lambers, Wietske M; Kraaijenbrink, Bastiaan; Siegert, Carl E H

2015-01-01

The refeeding syndrome may occur during reintroduction of carbohydrates in malnourished patients. This syndrome is characterized by reduced plasma electrolyte levels, hypophosphataemia being most prevalent. The symptoms can vary from minor symptoms to severe neurological or cardiac symptoms. The pathophysiological mechanism comprises an increase in insulin levels, resulting in shifts of phosphate, potassium and magnesium into the intracellular environment, as well as fluid retention and relative deficiency of vitamin B1. There is growing interest in the screening and treatment of patients with malnutrition, due to which the incidence of refeeding syndrome is probably increasing. Currently, there is no single definition of this syndrome and therefore there is no solid scientific basis for screening and treatment. In this article we describe the rationale for screening and additional laboratory investigations. A prospective, controlled trial is important to define the clinical relevance of the refeeding syndrome and optimize its treatment.

Det hepatopulmonale syndrome

DEFF Research Database (Denmark)

Eibye, Simone; Christensen, Erik

2016-01-01

The hepatopulmonary syndrome (HPS) - a complication of liver disease - seems to be underdiagnosed, probably because of decreased awareness. HPS consists of the triade liver disease, intrapulmonary vascular dilatation and as a consequence arterial hypoxaemia. No medical therapy has proven effective...

Syndrome Diagnosis: Human Intuition or Machine Intelligence?

Science.gov (United States)

Braaten, Øivind; Friestad, Johannes

2008-01-01

The aim of this study was to investigate whether artificial intelligence methods can represent objective methods that are essential in syndrome diagnosis. Most syndromes have no external criterion standard of diagnosis. The predictive value of a clinical sign used in diagnosis is dependent on the prior probability of the syndrome diagnosis. Clinicians often misjudge the probabilities involved. Syndromology needs objective methods to ensure diagnostic consistency, and take prior probabilities into account. We applied two basic artificial intelligence methods to a database of machine-generated patients - a ‘vector method’ and a set method. As reference methods we ran an ID3 algorithm, a cluster analysis and a naive Bayes’ calculation on the same patient series. The overall diagnostic error rate for the the vector algorithm was 0.93%, and for the ID3 0.97%. For the clinical signs found by the set method, the predictive values varied between 0.71 and 1.0. The artificial intelligence methods that we used, proved simple, robust and powerful, and represent objective diagnostic methods. PMID:19415142

Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.

Science.gov (United States)

Verloes, Alain; Bremond-Gignac, Dominique; Isidor, Bertrand; David, Albert; Baumann, Clarisse; Leroy, Marie-Anne; Stevens, René; Gillerot, Yves; Héron, Delphine; Héron, Bénédicte; Benzacken, Brigitte; Lacombe, Didier; Brunner, Han; Bitoun, Pierre

2006-06-15

We report on 11 patients from 8 families with a blepharophimosis and mental retardation syndrome (BMRS) phenotype. Using current nosology, five sporadic patients have Ohdo syndrome, associated with congenital hypothyroidism in two of them (thus also compatible with a diagnosis of Young-Simpson syndrome). In two affected sibs with milder phenotype, compensated hypothyroidism was demonstrated. In another family, an affected boy was born to the unaffected sister of a previously reported patient. Finally, in the last sibship, two affected boys in addition had severe microcephaly and neurological anomalies. A definitive clinical and etiologic classification of BMRS is lacking, but closer phenotypic analysis should lead to a more useful appraisal of the BMRS phenotype. We suggest discontinuing the systematic use of the term "Ohdo syndrome" when referring to patients with BMRS. We propose a classification of BMRS into five groups: (1) del(3p) syndrome, (possibly overlooked in older reports); (2) BMRS, Ohdo type, limited to the original patients of Ohdo; (3) BMRS SBBYS (Say-Barber/Biesecker/Young-Simpson) type, with distinctive dysmorphic features and inconstant anomalies including heart defect, optic atrophy, deafness, hypoplastic teeth, cleft palate, joint limitations, and hypothyroidism. BMRS type SBBYS is probably an etiologically heterogeneous phenotype, as AD and apparently AR forms exist; (4) BMRS, MKB (Maat-Kievit-Brunner) type, with coarse, triangular face, which is probably sex-linked; (5) BMRS V (Verloes) type, a probable new type with severe microcephaly, hypsarrhythmia, adducted thumbs, cleft palate, and abnormal genitalia, which is likely autosomal recessive. Types MKB and V are newly described here. Copyright 2006 Wiley-Liss, Inc.

Pulmonary manifestations in anaphylactoid purpura (Henoch-Schoenlein syndrome)

International Nuclear Information System (INIS)

Fiegler, W.; Siemoneit, K.D.

1981-01-01

Pulmonary manifestations in anaphylactoid purpura (Henoch-Schoenlein-syndrome). Radiological observations are reported on 2 female adults with Henoch-Schoenlein-syndrome accompanied by reversible pulmonary disease. This form of anaphylaktoid purpura has rarely been reported until now. The pulmonary opacities are regarded as intraalveolar bleeding probably with edem and interstitial perivascular infiltrations. They developed at the same time as the skin lesions and are probably part of the disease. These pulmonary changes are characterized by the following radiological criteria: 1. parahilar, butterfly-shaped opacities, 2. air-bronchograms, 3. reticulo-nodular pattern, 4. rapid change. (orig.) [de

Compartment syndrome can also be seen in the forearm

DEFF Research Database (Denmark)

Asmar, Ali; Broholm, Rikke; Bülow, Jens

2014-01-01

Chronic compartment syndrome is a challenge for the clinician and symptomatic similar to neuropathies, tenosynovitis, stress fractures and referred pain from lumbar cervicalis. Thus, chronic compartment syndrome of the upper extremities is probably an underdiagnosed condition. In patients...

Immune reconstitution syndrome presenting as probable AIDS-related lymphoma: a case report

DEFF Research Database (Denmark)

Mortensen, Bo K; Nielsen, Susanne D; Christensen, Charlotte

2011-01-01

ABSTRACT: We report an unusual case of HIV-related immune reconstitution inflammatory syndrome, presenting as suspected AIDS-related lymphoma. Symptoms, initial investigations including fine-needle biopsy and 18F-FDG PET/CT scan were highly compatible with high grade AIDS-related lymphoma, however...

Can sudden cardiac death in the young be predicted and prevented? Lessons from autopsy for the emergency physician.

Science.gov (United States)

White, Jennifer L; Chang, Anna Marie; Cesar, Sergi; Sarquella-Brugada, Georgia

2018-06-01

Sudden unexpected death in the young, though rare, is devastating for both the family and the community. Although only 1.3 to 8.5 cases of sudden cardiac death (SCD) occur per 100 000 young people, autopsy is often inconclusive. Many causes of SCD are related to autosomal dominant inherited risk, however; therefore, answers are important for survivors. Causes of autopsy-positive SCD in young patients include hypertrophic cardiomyopathy and arrhythmogenic right ventricular dysplasia. Autopsy-negative SCD has been related to inherited arrhythmogenic causes such as long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, Wolff- Parkinson-White syndrome, and idiopathic ventricular fibrillation. The important question for the emergency physician is how SCD can be predicted and prevented in the young so that there is no need for an autopsy.

Urofacial syndrome: A subset of neurogenic bladder dysfunction syndromes?

Directory of Open Access Journals (Sweden)

K N Stamatiou

2010-01-01

Full Text Available The urofacial syndrome is probably a subset of neurogenic bladder dysfunction syndromes characterized by detrusor-sphincter discoordination along with a characteristic inversion of facial expression with laughing. This characteristic facial expression can facilitate early detection of this disorder, which leads to poor bladder emptying with high residual urine, hydro-nephrosis with vesico-ureteral reflux and potentially renal failure if left untreated. The etiology of the urofacial syndrome is unknown. In our case, a 12-year-old boy of Middle-Eastern origin presented to the Outpatient Department of our hospital with left pyelonephritis, hydronephrosis and bladder dilatation. Voiding cystourethrography performed 15 days later revealed left vesicoureteral reflux. Cystoscopy revealed bladder trabeculation however an anatomic urethral obstruction was not noticed. Both, neurological examination and radiography of the lumbosacral spine were normal. Urodynamic evaluation revealed the typical findings of detrusor-sphincter discoordination.

A case of possible Kounis syndrome as a complication of scombroid syndrome

Directory of Open Access Journals (Sweden)

Stefano Rusconi

2017-11-01

Full Text Available Kounis syndrome is defined as the concurrence of acute coronary syndromes such as coronary spasm or acute myocardial infarction with conditions associated with activation of inflammatory mediators such histamine, arachidonic acid and various cytokines and chemokines. Recently, a variety of unusual etiologies have been reported, including scombroid syndrome. We present a case of a woman without previous history of cardiac diseases or cardiovascular risk factors, who presented to emergency department after the onset of flushing, asthenia, palpitations, burning sensation in the mouth having just eaten tuna. The electrocardiogram revealed a sinus tachycardia with diffuse ST segment depression. After therapy, in a short time symptoms recovered and a second electrocardiogram no longer showed any ST changes. These electrocardiographic changes observed in our case were probably due to transitory coronary vasospasm as described in type I variant of Kounis syndrome.

Utility of the exercise electrocardiogram testing in sudden cardiac death risk stratification.

Science.gov (United States)

Refaat, Marwan M; Hotait, Mostafa; Tseng, Zian H

2014-07-01

Sudden cardiac death (SCD) remains a major public health problem. Current established criteria identifying those at risk of sudden arrhythmic death, and likely to benefit from implantable cardioverter defibrillators (ICDs), are neither sensitive nor specific. Exercise electrocardiogram (ECG) testing was traditionally used for information concerning patients' symptoms, exercise capacity, cardiovascular function, myocardial ischemia detection, and hemodynamic responses during activity in patients with hypertrophic cardiomyopathy. We conducted a systematic review of MEDLINE on the utility of exercise ECG testing in SCD risk stratification. Exercise testing can unmask suspected primary electrical diseases in certain patients (catecholaminergic polymorphic ventricular tachycardia or concealed long QT syndrome) and can be effectively utilized to risk stratify patients at an increased (such as early repolarization syndrome and Brugada syndrome) or decreased risk of SCD, such as the loss of preexcitation on exercise testing in asymptomatic Wolff-Parkinson-White syndrome. Exercise ECG testing helps in SCD risk stratification in patients with and without arrhythmogenic hereditary syndromes. © 2014 Wiley Periodicals, Inc.

Nodding syndrome: origins and natural history of a longstanding ...

African Journals Online (AJOL)

Nodding syndrome: origins and natural history of a longstanding epileptic disorder in sub-Saharan Africa. ... Conclusion: Historical accounts of head nodding (amesinzia kichwa, Swahili) among the Wapogoro tribe fit the August 2012 World Health Organization (WHO) case definition of probable Nodding Syndrome.

The genetic basis of Brugada syndrome: a mutation update

DEFF Research Database (Denmark)

Hedley, Paula L; Jørgensen, Poul; Schlamowitz, Sarah

2009-01-01

of inheritance with an average prevalence of 5:10,000 worldwide. Currently, more than 100 mutations in seven genes have been associated with BrS. Loss-of-function mutations in SCN5A, which encodes the alpha-subunit of the Na(v)1.5 sodium ion channel conducting the depolarizing I(Na) current, causes 15-20% of Br......S cases. A few mutations have been described in GPD1L, which encodes glycerol-3-phosphate dehydrogenase-1 like protein; CACNA1C, which encodes the alpha-subunit of the Ca(v)1.2 ion channel conducting the depolarizing I(L,Ca) current; CACNB2, which encodes the stimulating beta2-subunit of the Ca(v)1.2 ion...

Kounis syndrome: a narrative review

African Journals Online (AJOL)

Epidemiology. The lifetime ... It is difficult to estimate the incidence of Kounis syndrome. It is probably .... antibody and eosinophil levels will help to identify an allergic reaction. .... The World Allergy Organization recently published a consensus.

[Burnout syndrome among family physicians].

Science.gov (United States)

Sánchez-Cruz, Juan; Mugártegui-Sánchez, Sharon

2013-01-01

burnout syndrome is a state of physical and emotional exhaustion that can occur among workers who interact directly with others. This could affect job performance. The objective was to determine the prevalence of this syndrome and its associated factors among family physicians. a cross-sectional survey applying the Maslach Burnout Inventory was conducted in a selected convenience non-probability sampling of family physicians. Central tendency and dispersion measures were used in determining the prevalence of burnout syndrome; the associated factors were analysed by χ(2) test. there were 59 cases of burnout syndrome, 36 had involvement in a single component, 15 in 2 and 8 were affected in 3 components; we observed that 35 % of positive cases reported doing an average of 10 extra shifts a month (p = 0.013). Having a second job was associated with positive cases of burnout syndrome. the results are consistent with similar studies. Working extra shifts or having a second job were the related factors most associated to this syndrome.

Visceroptosis and the Ehlers-Danlos Syndrome.

Science.gov (United States)

Kucera, Stephen; Sullivan, Stephen N

2017-11-08

The case of a patient with visceroptosis and Ehlers-Danlos syndrome hypermobility type (RDS-HT) is reported here. The literature on this unusual but probably under-recognized complication is reviewed.

Frequency and predictive factors for overlap syndrome between autoimmune hepatitis and primary cholestatic liver disease.

Science.gov (United States)

Gheorghe, Liana; Iacob, Speranta; Gheorghe, Cristian; Iacob, Razvan; Simionov, Iulia; Vadan, Roxana; Becheanu, Gabriel; Parvulescu, Iuliana; Toader, Cristina

2004-06-01

To evaluate the frequency of cholestatic pattern in patients with autoimmune hepatitis (AIH) and to identify predictive factors associated with the development of the overlap syndrome. Eighty-two consecutive patients diagnosed with AIH at the referral centre between January 1998 and June 2002 were included in the study. The new scoring system modified by the International Autoimmune Hepatitis Group was used to classify patients as definite/probable. Overlap syndrome was considered when the patient had clinical, serological and histological characteristics of two conditions: AIH and primary biliary cirrhosis (PBC) or AIH and primary sclerosing cholangitis (PSC). From the 82 AIH patients (76 female and six male), 84.1% presented definite AIH (> 15 points) and 15.9% probable AIH (10 - 15 points). The frequency of the overlap syndrome was 20%: 13% with PBC and 7% with PSC. In the univariate analysis the overlap syndrome was associated with male gender (P = 0.01), age < 35 years (P < 0.0001), histopathological aspect of cholestasis (P < 0.0001), suboptimal response to treatment (P < 0.0001) and probable AIH (P < 0.0001). Age < 35 years, probable AIH and the absence of anti-nuclear antibody (ANA) have been identified as independent indicators of the overlap diagnosis by the logistic regression analysis. Patients with overlap syndrome between AIH and primary cholestatic liver disease are frequently diagnosed in clinical practice, representing 20% of AIH cases in our study. The independent predictive factors associated with the diagnosis of overlap syndrome are young age, ANA(-) profile, and probable diagnosis according with the scoring system for AIH.

Clinical characteristics of two probable cases of Angelman syndrome in the Hospital Nacional de Ninos

International Nuclear Information System (INIS)

Midence-Cerda, Marvin; Brian-Gago, Roberto

2004-01-01

Angelman Syndrome is a severe neurological disorder. No other case has been reported in our country until now. There are two children reported with the clinical suspicion of Angelman Syndrome. They were treated at the Departamento de Neurologia del Hospital Nacional de Ninos. The information was taken from their medical records. The two patients present the four cardinal clinical features, including severe developmental delay, profound speech impairment, ataxia and a happy, sociable disposition. In addition, the patients displayed other characteristics: seizures associated with a typical spike and slow wave activity on EEG an love for water. The clinical diagnosis is difficult because other disorders can mimic the features of Angelman Syndrome. Nonetheless, at an early age, the behavioral phenotype of happy disposition and hyperexcitability is the most important manifestation and appears to be decisive in the differential diagnosis of patients with psychomotor and language delay. (author) [es

Cerebro-costo-mandibular syndrome

International Nuclear Information System (INIS)

Flodmark, P.; Wattsgaard, C.

2001-01-01

Cerebro-costo-mandibular syndrome is a rare disorder characterized by rib malformations, various degrees of cerebral maldevelopment, mental deficiency, palatal defects, and micrognatia. This syndrome was first described in 1966. The majority of cases are sporadic, but a few instances of familial occurrence have been reported, some with an autosomal recessive pattern of inheritance. Mortality in early age has been high, probably mostly due to respiratory insufficiency secondary to rib abnormalities and flail chest. We report a mother and son with this disorder, suggesting autosomal dominant transmission. (orig.)

Cerebro-costo-mandibular Syndrome

Science.gov (United States)

McNicholl, B.; Egan-Mitchell, B.; Murray, J. P.; Doyle, J. F.; Kennedy, J. D.; Crome, L.

1970-01-01

Three sibs with a hitherto unreported syndrome are described, the main features being mental handicap, palatal defects, micrognathia, and severe costovertebral defects, involving segmentation of most ribs and fusion of their dorsal ends to the vertebral bodies. In addition one infant had hypoplasia of an elbow together with defects of sacrum and coccyx; she and one other sib had minor dental defects. The syndrome is potentially lethal in the neonatal period; one of the sibs has survived. The inheritance is probably autosomal recessive. ImagesFIG. 1FIG. 2FIG. 3FIG. 4 PMID:5427859

Generalized Probability-Probability Plots

NARCIS (Netherlands)

Mushkudiani, N.A.; Einmahl, J.H.J.

2004-01-01

We introduce generalized Probability-Probability (P-P) plots in order to study the one-sample goodness-of-fit problem and the two-sample problem, for real valued data.These plots, that are constructed by indexing with the class of closed intervals, globally preserve the properties of classical P-P

Immune reconstitution syndrome presenting as probable AIDS-related lymphoma: a case report

OpenAIRE

Christensen Charlotte B; Nielsen Susanne D; Mortensen Bo K; Helweg-Larsen Jannik

2011-01-01

Abstract We report an unusual case of HIV-related immune reconstitution inflammatory syndrome, presenting as suspected AIDS-related lymphoma. Symptoms, initial investigations including fine-needle biopsy and 18F-FDG PET/CT scan were highly compatible with high grade AIDS-related lymphoma, however subsequently IRIS was diagnosed. We discuss pitfalls in the interpretation of diagnostic results in ARL versus IRIS.

Quantum Probabilities as Behavioral Probabilities

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Vyacheslav I. Yukalov

2017-03-01

Full Text Available We demonstrate that behavioral probabilities of human decision makers share many common features with quantum probabilities. This does not imply that humans are some quantum objects, but just shows that the mathematics of quantum theory is applicable to the description of human decision making. The applicability of quantum rules for describing decision making is connected with the nontrivial process of making decisions in the case of composite prospects under uncertainty. Such a process involves deliberations of a decision maker when making a choice. In addition to the evaluation of the utilities of considered prospects, real decision makers also appreciate their respective attractiveness. Therefore, human choice is not based solely on the utility of prospects, but includes the necessity of resolving the utility-attraction duality. In order to justify that human consciousness really functions similarly to the rules of quantum theory, we develop an approach defining human behavioral probabilities as the probabilities determined by quantum rules. We show that quantum behavioral probabilities of humans do not merely explain qualitatively how human decisions are made, but they predict quantitative values of the behavioral probabilities. Analyzing a large set of empirical data, we find good quantitative agreement between theoretical predictions and observed experimental data.

A report of a probable case of familial Guillain Barre syndrome

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Mohammad Barzegar

2012-01-01

Full Text Available Although it is a sporadic disease, few studies have reported cases of Guillain Barre Syndrome (GBS in families which postulate a genetic susceptibility. Human leukocyte antigen (HLA typing is an area of discussion in GBS though none of them are considered definitive. In recent years, more studies have evaluated HLA typing in sporadic cases while rarely it has been assessed in familial ones. We report a woman and her daughter experiencing GBS and their HLA typing in a 2-year interval.

Probability Aggregates in Probability Answer Set Programming

OpenAIRE

Saad, Emad

2013-01-01

Probability answer set programming is a declarative programming that has been shown effective for representing and reasoning about a variety of probability reasoning tasks. However, the lack of probability aggregates, e.g. {\\em expected values}, in the language of disjunctive hybrid probability logic programs (DHPP) disallows the natural and concise representation of many interesting problems. In this paper, we extend DHPP to allow arbitrary probability aggregates. We introduce two types of p...

[Mania associated with Usher syndrome type II].

Science.gov (United States)

Praharaj, Samir Kumar; Acharya, Mahima; Sarvanan, Arul; Kongasseri, Sreejayan; Behere, Rishikesh V; Sharma, P S V N

2012-01-01

Usher syndrome (or Hallgren syndrome) is an autosomal recessive genetic disorder characterized by sensorineural deafness, retinitis pigmentosa, and variable vestibular deficit; Usher syndrome type II is the most common form. Various neuropsychiatric disorders have been reported to occur in those with Usher syndrome, including schizophrenia-like disorder, atypical psychosis, recurrent depressive illness, neurotic disorder, and mental retardation; however, bipolar disorder is not common in those with Usher syndrome. Herein we describe a 30-year-old male with Usher syndrome type II that developed features indicative of a probable manic episode. The patient had complete remission of symptoms in response to treatment with olanzapine 20 mg d-1. In persons with dual sensory impairment there are inherent problems with assessment and diagnosis is difficult due to their limited communication abilities. The diagnosis of Usher syndrome depends heavily on behavioral observation and disturbances in vegetative functions.

Reduced Penetrance and Variable Expression of SCN5A Mutations and the Importance of Co-inherited Genetic Variants: Case Report and Review of the Literature

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T. Robyns, MD.

2014-05-01

Full Text Available Mutations in the SCN5A gene are responsible for multiple phenotypical presentations including Brugada syndrome, long QT syndrome, progressive familial heart block, sick sinus syndrome, dilated cardiomyopathy, lone atrial fibrillation and multiple overlap syndromes. These different phenotypic expressions of a mutation in a single gene can be explained by variable expression and reduced penetrance. One of the possible explanations of these phenomena is the co-inheritance of genetic variants. We describe a family where the individuals exhibit a compound heterozygosity in the SCN5A gene including a mutation (R1632H and a new variant (M858L. Individuals with both the mutation and new variant present with a more severe phenotype including spontaneous atrial tachyarrhythmia at young age. We give an overview of the different phenotypes of "SCN5A disease" and discuss the importance of co-inherited genetic variants in the expression of SCN5A disease.

Crisponi/CISS1 syndrome

DEFF Research Database (Denmark)

AlHashem, Amal M; Majeed-Saidan, Muhammad Ali; Ammari, Amer N

2016-01-01

unpublished family is also described with a novel mutation in CRLF1, c.605delC (p.Ala202Valfs*32). In Saudi Arabia the prevalence of the syndrome is probably underestimated due to the difficulty in making the diagnosis considering the complex phenotype with typical neonatal and evolutive features....

Negative probability in the framework of combined probability

OpenAIRE

Burgin, Mark

2013-01-01

Negative probability has found diverse applications in theoretical physics. Thus, construction of sound and rigorous mathematical foundations for negative probability is important for physics. There are different axiomatizations of conventional probability. So, it is natural that negative probability also has different axiomatic frameworks. In the previous publications (Burgin, 2009; 2010), negative probability was mathematically formalized and rigorously interpreted in the context of extende...

[Obesity-hypoventilation syndrome].

Science.gov (United States)

Weitzenblum, E; Kessler, R; Canuet, M; Chaouat, A

2008-04-01

The obesity-hypoventilation syndrome (OHS), or alveolar hypoventilation in the obese, has been described initially as the "Pickwickian syndrome". It is defined as chronic alveolar hypoventilation (PaO2 or =45 mmHg) in obese patients (body mass index>30 kg/m2) who have no other respiratory disease explaining the hypoxemia-hypercapnia. The large majority of obese subjects are not hypercapnic, even in case of severe obesity (>40 kg/m2). There are three principal causes, which can be associated, explaining alveolar hypoventilation in obese subjects: high cost of respiration and weakness of the respiratory muscles (probably the major cause), dysfunction of the respiratory centers with diminished chemosensitivity, long-term effects of the repeated episodes of obstructive sleep apneas observed in some patients. The role of leptin (hormone produced by adipocytes) in the pathogenesis of this syndrome, has been recently advocated. OHS is generally observed in subjects over 50 years. Its prevalence has markedly increased in recent years, probably due to the present "epidemic" of obesity. The diagnosis is often made after an episode of severe respiratory failure. Comorbidities, favored by obesity, are very frequent: systemic hypertension, left heart diseases, diabetes. OHS must be distinguished from obstructive sleep apnea syndrome (OSAS) even if the two conditions are often associated. OSAS may be absent in certain patients with OHS (20% of the patients in our experience). On the other hand obesity may be absent in certain patients with OSAS. Losing weight is the "ideal" treatment of OHS but in fact it cannot be obtained in most patients. Nocturnal ventilation (continuous positive airway pressure and mainly bilevel non invasive ventilation) is presently the best treatment of OHS and excellent short and long-term results on symptoms and arterial blood gases have been recently reported.

Insomnia is a frequent finding in adults with Asperger syndrome

OpenAIRE

Tani, Pekka; Lindberg, Nina; Nieminen-von Wendt, Taina; von Wendt, Lennart; Alanko, Lauri; Appelberg, Björn; Porkka-Heiskanen, Tarja

2003-01-01

Abstract Background Asperger syndrome (AS) is a neurodevelopmental disorder belonging to autism spectrum disorders with prevalence rate of 0,35% in school-age children. It has been most extensively studied in childhood while there is scarcity of reports concerning adulthood of AS subjects despite the lifelong nature of this syndrome. In children with Asperger syndrome the initiation and continuity of sleep is disturbed because of the neuropsychiatric deficits inherent of AS. It is probable th...

Aneurysm of the ductus arteriosus in a patient with Larsen syndrome

International Nuclear Information System (INIS)

Je, Bo-Kyung; Yoo, So-Young; Lee, Whal; Kim, Woo Sun; Kim, In-One

2006-01-01

Larsen syndrome is characterized by multiple congenital joint dislocations and a characteristic flattened facial appearance. The aetiology is unknown, but the syndrome is considered a probable connective tissue disorder and the cardiovascular manifestations are similar to those of Marfan syndrome. We describe an 8-year-old girl with the characteristic features of Larsen syndrome who was also affected by a saccular aneurysm of the descending aorta, just distal to the left subclavian artery. We present the radiological findings and review the literature. (orig.)

Aneurysm of the ductus arteriosus in a patient with Larsen syndrome

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Je, Bo-Kyung [Korea University Ansan Hospital, Department of Diagnostic Radiology, Danwon-gu, Ansan-si (Korea); Yoo, So-Young [Sungkyunkwan University School of Medicine, Department of Radiology, Samsung Medical Center, Seoul (Korea); Lee, Whal; Kim, Woo Sun; Kim, In-One [Seoul National University College of Medicine, Department of Radiology, Seoul (Korea)

2006-11-15

Larsen syndrome is characterized by multiple congenital joint dislocations and a characteristic flattened facial appearance. The aetiology is unknown, but the syndrome is considered a probable connective tissue disorder and the cardiovascular manifestations are similar to those of Marfan syndrome. We describe an 8-year-old girl with the characteristic features of Larsen syndrome who was also affected by a saccular aneurysm of the descending aorta, just distal to the left subclavian artery. We present the radiological findings and review the literature. (orig.)

What is the risk of developing pigmentary glaucoma from pigment dispersion syndrome?

Science.gov (United States)

Siddiqui, Yasmin; Ten Hulzen, Richard D; Cameron, J Douglas; Hodge, David O; Johnson, Douglas H

2003-06-01

To determine the probability of converting from pigment dispersion syndrome to pigmentary glaucoma. Retrospective community-based study of all newly diagnosed cases of pigment dispersion syndrome or pigmentary glaucoma. Subjects were patients newly diagnosed with pigment dispersion syndrome or pigmentary glaucoma from 1976 to 1999 in Olmsted County, Minnesota. Criteria for pigment dispersion syndrome were two of three signs: midperipheral, radial iris transillumination defects; Krukenberg spindle; heavy trabecular meshwork pigmentation. Criteria for pigmentary glaucoma were pigment dispersion syndrome and two of three findings: intraocular pressure (IOP) greater than 21 mm, optic nerve damage, or visual field loss. Kaplan-Meier survival curves were used to determine the probability of conversion to pigmentary glaucoma. A total of 113 patients were newly diagnosed with pigment dispersion syndrome over the 24-year period. Of these, 9 persons developed pigmentary glaucoma or elevated IOP requiring therapy. The probability of converting to pigmentary glaucoma was 10% at 5 years and 15% at 15 years. An additional 23 patients were found to have pigmentary glaucoma at their initial examination. The mean age at diagnosis of pigmentary glaucoma was 42 +/- 12 years; 78% of patients were male, whereas 58% of patients with pigmentary dispersion syndrome glaucoma were male. The most significant risk factor for conversion to pigmentary glaucoma was an IOP greater than 21 mm Hg at initial examination, whereas age, refractive error, and family history of glaucoma were not correlated with conversion. The risk of developing pigmentary glaucoma from pigment dispersion syndrome was 10% at 5 years and 15% at 15 years. Young, myopic men were most likely to have pigmentary glaucoma. An IOP greater than 21 mm Hg at initial examination was associated with an increased risk of conversion.

Epidemiology of Arrhythmias in Children

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R Prem Sekar

2008-05-01

Full Text Available Unlike the adult population, arrhythmias occur less commonly in childhood. Only 5% of the emergency hospital admissions in the paediatric population is attributed to symptomatic arrhythmias. Majority of these tend to be accessory pathway mediated supraventricular tachyarrhythmias such as Wolff-Parkinson-White (WPW syndrome, permanent junctional reciprocating tachycardia (PJRT and Mahaim tachycardia. The non accessory pathway mediated supraventricular tachyarrhythmias commonly seen in children are junctional ectopic tachycardia (JET and automatic ectopic atrial tachycardia (AET and occur mostly in the post operative period after intracardiac repair for a structural heart defect. Ventricular tachycardia (VT although uncommon, occurs in the paediatric age group in association with hypertrophic cardiomyopathy (HCM, long QT syndrome (LQTS and Brugada syndrome. Occasionally, VT can also present symptomatically as incessant idiopathic infant ventricular tachycardia, right ventricular outflow tract tachycardia, benign VT, catecholaminic VT, idiopathic left ventricular tachycardia and in post cardiac surgical patients.

Cushing's Syndrome: Where and How to Find It.

Science.gov (United States)

Debono, Miguel; Newell-Price, John D

2016-01-01

The diagnosis of Cushing's syndrome is challenging to endocrinologists as patients often present with an insidious history, together with subtle external clinical features. Moreover, complications of endogenous hypercortisolism, such as visceral obesity, diabetes, hypertension and osteoporosis, are conditions commonly found in the population, and discerning whether these are truly a consequence of hypercortisolism is not straightforward. To avoid misdiagnosis, a careful investigative approach is essential. The investigation of Cushing's syndrome is a three-step process. Firstly, after exclusion of exogenous glucocorticoid use, the decision to initiate investigations should be based on whether there is a clinical index of suspicion of the disease. Specific signs of endogenous hypercortisolism raise the a priori probability of a truly positive test. Secondly, if the probability of hypercortisolism is high, one should carry out specific tests as indicated by Endocrine Society guidelines. Populations with non-distinguishing features of Cushing's syndrome should not be screened routinely as biochemical tests have a high false-positive rate if used indiscriminately. Thirdly, once hypercortisolism is confirmed, one should move to establish the cause. This usually entails distinguishing between adrenal or pituitary-related causes and the remoter possibility of the ectopic adrenocorticotropic hormone syndrome. It is crucial that the presence of Cushing's syndrome is established before any attempt at differential diagnosis. © 2016 S. Karger AG, Basel.

Waardenburg′s syndrome

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Yesudian Devakar

1995-01-01

Full Text Available Three children in a family of five presented with heterochromia iridis, lateral displacement of inner canthi and varying degrees of sensorineural deafness. All the 3 showed iris atrophy. The father of the children had only heterochromia iridis. A diagnosis of Waardenburg′s syndrome Type I was made in the children with the father probably representing a forme fruste of the condition

Timing of alcohol use and the incidence of premenstrual syndrome and probable premenstrual dysphoric disorder.

Science.gov (United States)

Bertone-Johnson, Elizabeth R; Hankinson, Susan E; Johnson, Susan R; Manson, JoAnn E

2009-12-01

Relatively little is known about factors that influence the initial development of premenstrual syndrome (PMS) and premenstrual dysphoric disorder (PMDD), although these conditions are common in reproductive age women and are associated with substantial impairment. Previous studies have observed higher alcohol use in prevalent PMS/PMDD patients compared with controls, but it is unknown if drinking predisposes women to developing these disorders or is instead influenced by symptom experience. To address this, we conducted a case-control study nested within the prospective Nurses' Health Study II (NHS2). Participants were a subset of women aged 27-44 and free from PMS at baseline (1991), including 1057 women who developed PMS over 10 years of follow-up, 762 of whom also met criteria consistent with PMDD, and 1968 control women. Alcohol use at various time periods, before and after onset of menstrual symptoms, was assessed by questionnaire. Overall, alcohol use was not strongly associated with the incidence of PMS and probable PMDD. Relative risks (RR) for women with the highest cumulative alcohol use vs. never drinkers were 1.19 (95% confidence interval [CI] 0.84-1.67) for PMS and 1.28 (95% CI 0.86-1.91) for PMDD, although results did suggest a positive relationship in leaner women (p trend=0.002). Women who first used alcohol before age 18 had an RR of PMS of 1.26 (95% CI 0.91-1.75) compared with never drinkers; the comparable RR for PMDD was 1.35 (95% CI 0.93-1.98). These findings suggest alcohol use is not strongly associated with the development of PMS and PMDD, although early age at first use and long-term use may minimally increase risk.

Probability

CERN Document Server

Shiryaev, A N

1996-01-01

This book contains a systematic treatment of probability from the ground up, starting with intuitive ideas and gradually developing more sophisticated subjects, such as random walks, martingales, Markov chains, ergodic theory, weak convergence of probability measures, stationary stochastic processes, and the Kalman-Bucy filter Many examples are discussed in detail, and there are a large number of exercises The book is accessible to advanced undergraduates and can be used as a text for self-study This new edition contains substantial revisions and updated references The reader will find a deeper study of topics such as the distance between probability measures, metrization of weak convergence, and contiguity of probability measures Proofs for a number of some important results which were merely stated in the first edition have been added The author included new material on the probability of large deviations, and on the central limit theorem for sums of dependent random variables

Bladder pain syndrome/interstitial cystitis: a sense of urgency.

Science.gov (United States)

Hanno, Philip M; Chapple, Chris R; Cardozo, Linda D

2009-12-01

A classic triad of symptoms (bladder pain, urinary frequency, and urgency) has served to define bladder pain syndrome/painful bladder syndrome/interstitial cystitis (BPS/PBS/IC) syndrome. BPS/PBS/IC is a distinct condition and it is likely that the urgency experienced by these patients differs from that experienced by those with overactive bladder syndrome. It is unclear how best to define urgency in the BPS/PBS/IC setting. Differences in the other primary symptoms associated with these conditions probably influence how urgency is perceived. Advances in research into the pathophysiology of urgency and underlying disease processes will help to optimize both the diagnosis and treatment of BPS/PBS/IC.

Do Gender and Race Make a Difference in Acute Coronary Syndrome Pretest Probabilities in the Emergency Department?

Science.gov (United States)

Musey, Paul I; Kline, Jeffrey A

2017-02-01

The objective was to test for significant differences in subjective and objective pretest probabilities for acute coronary syndrome (ACS) in a large cohort of chest pain patients stratified by race or gender. Secondarily we wanted to test for any differences in rates of ACS, rates of 90-day returns, cost, and chest radiation exposure after these stratifications. This is a secondary analysis of a prospective outcomes study of ED patients with chest pain and shortness of breath. We performed two separate analyses. The data set was divided by gender for analysis 1 while the analysis 2 stratification was made by race (nonwhite vs. white). For each analysis, groups were compared on several variables: provider visual analog scales (VAS) for likelihood of ACS, PREtest Consult ACS probabilities, rates of ACS, total radiation exposure to the chest, total costs at 30 days, and 90-day recidivism (ED, overnight observations, and inpatient admissions). A total of 844 patients were studied. Gender information was present on all 844 subjects, while complete race/ethnicity information was available on 783 (93%) subjects. For the first analysis, female patients made up 57% (478/844) of the population and their mean provider VAS scores for ACS were significantly lower (p = 0.000) at 14% (95% confidence interval [CI] = 13% to 16%) than that of males at 22% (95% CI = 19% to 24%). This was consistent with the objective pretest ACS probabilities subsequently calculated via the validated online tool, PREtest Consult, which were also significantly lower (p = 0.000) at 2.7% (95% CI = 2.4% to 3.1%) for females versus 6.6% (95% CI = 5.9% to 7.3%) for males. However, comparing females to males, there was no significant difference in diagnosis of ACS (3.6% vs. 1.6%), mean chest radiation doses (5.0 mSv vs. 4.9 mSv), total costs at 30 days ($3,451.24 vs. $3,847.68), or return to the ED within 90 days (26% each). For analysis 2 by race, nonwhite patients also comprised 57% (444/783) of

Controversies in Cardiovascular Research: Induced pluripotent stem cell-derived cardiomyocytes – boutique science or valuable arrhythmia model?

Science.gov (United States)

Knollmann, Björn C

2013-01-01

As part of the series on Controversies in Cardiovascular Research, the article reviews the strengths and limitations of induced pluripotent stem cell-derived cardiomyocytes (iPSC-CM) as models of cardiac arrhythmias. Specifically, the article attempts to answer the following questions: Which clinical arrhythmias can be modeled by iPSC-CM? How well can iPSC-CM model adult ventricular myocytes? What are the strengths and limitations of published iPSC-CM arrhythmia models? What new mechanistic insight has been gained? What is the evidence that would support using iPSC-CM to personalize anti-arrhythmic drug therapy? The review also discusses the pros and cons of using the iPSC-CM technology for modeling specific genetic arrhythmia disorders such as long QT syndrome, Brugada Syndrome or Catecholaminergic Polymorphic Ventricular Tachycardia. PMID:23569106

Reversible hemispheric hypoperfusion in two cases of SMART syndrome.

Science.gov (United States)

Wai, Karmen; Balabanski, Anna; Chia, Nicholas; Kleinig, Timothy

2017-09-01

Stroke-like migraine attacks after radiation therapy (SMART) syndrome manifests as prolonged episodes of cortical dysfunction, years after cranial irradiation. We present two cases demonstrating reversible hemispheric hypoperfusion. Case 1 presented with left hemispheric symptoms following previous similar episodes. CT perfusion (CTP) demonstrated reversible hemispheric hypoperfusion; subsequent investigations were consistent with SMART syndrome. Case 2 presented following the third episode of a hemispheric syndrome with near-identical CTP abnormalities. L-arginine was administered with rapid reversal of clinical and CTP abnormalities. We conclude that SMART syndrome may demonstrate significant hypoperfusion on hyperacute CTP without subsequent infarction. Impaired cerebrovascular autoregulation probably contributes to cortical dysfunction in SMART syndrome. L-arginine warrants investigation as a potential treatment. Copyright © 2017 Elsevier Ltd. All rights reserved.

Metabolic syndrome and asthma.

Science.gov (United States)

Garmendia, Jenny V; Moreno, Dolores; Garcia, Alexis H; De Sanctis, Juan B

2014-01-01

Metabolic syndrome (MetS) is a syndrome that involves at least three disorders dyslipidemia, insulin resistance, obesity and/or hypertension. MetS has been associated with several chronic diseases in the adulthood; however, in the recent years, the syndrome was redefined in children. Girls with early menarche and asthma, and children with MetS and asthma that reach adulthood appear to have higher risk to develop severe or difficult to control asthma and a higher probability to suffer cardiovascular diseases. It has been proposed that patients with MetS and endocrinological disorders should be considered a different entity in which pharmacologic treatment should be adjusted according to the individual. Recent patents on the field have addressed new issues on how endocrine control should be managed along with asthma therapeutics. In the near future, new approaches should decrease the high morbidity and mortality associated to these types of patients.

Nystagmus in Laurence-Moon-Biedl Syndrome

Directory of Open Access Journals (Sweden)

A. Bruce Janati

2015-01-01

Full Text Available Introduction. Laurence-Moon-Biedl (LMB syndrome is a rare autosomal-recessive ciliopathy with manifold symptomatology. The cardinal clinical features include retinitis pigmentosa, obesity, intellectual delay, polydactyly/syndactyly, and hypogenitalism. In this paper, the authors report on three siblings with Laurence-Moon-Biedl syndrome associated with a probable pseudocycloid form of congenital nystagmus. Methods. This was a case study conducted at King Khaled Hospital. Results. The authors assert that the nystagmus in Laurence-Moon-Biedl syndrome is essentially similar to idiopathic motor-defect nystagmus and the nystagmus seen in optic nerve hypoplasia, ocular albinism, and bilateral opacities of the ocular media. Conclusion. The data support the previous hypothesis that there is a common brain stem motor abnormality in sensory-defect and motor-defect nystagmus.

"Pregnancy and Landry Gullian Barre syndrome".

Science.gov (United States)

Iloabachie, G C

1994-01-01

Landry Gullian Barre Syndrome is rare in pregnancy. The case described occurred in a 30 year old woman at a gestational age of 33 weeks. This is probably the 30th case described in the Literature. Unlike in some previous reports remarkable improvement occurred with caesarean section.

Scaling Qualitative Probability

OpenAIRE

Burgin, Mark

2017-01-01

There are different approaches to qualitative probability, which includes subjective probability. We developed a representation of qualitative probability based on relational systems, which allows modeling uncertainty by probability structures and is more coherent than existing approaches. This setting makes it possible proving that any comparative probability is induced by some probability structure (Theorem 2.1), that classical probability is a probability structure (Theorem 2.2) and that i...

Metabolic syndrome and cardiovascular risk

Directory of Open Access Journals (Sweden)

Abdullah M Alshehri

2010-01-01

Full Text Available The constellation of dyslipidemia (hypertriglyceridemia and low levels of high-density lipoprotein cholesterol, elevated blood pressure, impaired glucose tolerance, and central obesity is now classified as metabolic syndrome, also called syndrome X. In the past few years, several expert groups have attempted to set forth simple diagnostic criteria for use in clinical practice to identify patients who manifest the multiple components of the metabolic syndrome. These criteria have varied somewhat in specific elements, but in general, they include a combination of multiple and metabolic risk factors. The most widely recognized of the metabolic risk factors are atherogenic dyslipidemia, elevated blood pressure, and elevated plasma glucose. Individuals with these characteristics, commonly manifest a prothrombotic state as well as and a proinflammatory state. Atherogenic dyslipidemia consists of an aggregation of lipoprotein abnormalities including elevated serum triglyceride and apolipoprotein B (apoB, increased small LDL particles, and a reduced level of HDL cholesterol (HDL-C. The metabolic syndrome is often referred to as if it were a discrete entity with a single cause. Available data suggest that it truly is a syndrome, ie, a grouping of atherosclerotic cardiovascular disease (ASCVD risk factors, that probably has more than one cause. Regardless of cause, the syndrome identifies individuals at an elevated risk for ASCVD. The magnitude of the increased risk can vary according to the components of the syndrome present as well as the other, non-metabolic syndrome risk factors in a particular person.

Metabolic syndrome and cardiovascular risk

Directory of Open Access Journals (Sweden)

Abdullah M Alshehri

2010-11-01

Full Text Available The constellation of dyslipidemia (hypertriglyceridemia and low levels of high-density lipoprotein cholesterol, elevated blood pressure, impaired glucose tolerance, and central obesity is now classified as metabolic syndrome, also called syndrome X. In the past few years, several expert groups have attempted to set forth simple diagnostic criteria for use in clinical practice to identify patients who manifest the multiple components of the metabolic syndrome. These criteria have varied somewhat in specific elements, but in general, they include a combination of multiple and metabolic risk factors. The most widely recognized of the metabolic risk factors are atherogenic dyslipidemia, elevated blood pressure, and elevated plasma glucose. Individuals with these characteristics, commonly manifest a prothrombotic state as well as and a proinflammatory state. Atherogenic dyslipidemia consists of an aggregation of lipoprotein abnormalities including elevated serum triglyceride and apolipoprotein B (apoB, increased small LDL particles, and a reduced level of HDL cholesterol (HDL-C. The metabolic syndrome is often referred to as if it were a discrete entity with a single cause. Available data suggest that it truly is a syndrome, ie, a grouping of atherosclerotic cardiovascular disease (ASCVD risk factors, that probably has more than one cause. Regardless of cause, the syndrome identifies individuals at an elevated risk for ASCVD. The magnitude of the increased risk can vary according to the components of the syndrome present as well as the other, non-metabolic syndrome risk factors in a particular person.

Cardiac Channelopathies and Sudden Death: Recent Clinical and Genetic Advances.

Science.gov (United States)

Fernández-Falgueras, Anna; Sarquella-Brugada, Georgia; Brugada, Josep; Brugada, Ramon; Campuzano, Oscar

2017-01-29

Sudden cardiac death poses a unique challenge to clinicians because it may be the only symptom of an inherited heart condition. Indeed, inherited heart diseases can cause sudden cardiac death in older and younger individuals. Two groups of familial diseases are responsible for sudden cardiac death: cardiomyopathies (mainly hypertrophic cardiomyopathy, dilated cardiomyopathy, and arrhythmogenic cardiomyopathy) and channelopathies (mainly long QT syndrome, Brugada syndrome, short QT syndrome, and catecholaminergic polymorphic ventricular tachycardia). This review focuses on cardiac channelopathies, which are characterized by lethal arrhythmias in the structurally normal heart, incomplete penetrance, and variable expressivity. Arrhythmias in these diseases result from pathogenic variants in genes encoding cardiac ion channels or associated proteins. Due to a lack of gross structural changes in the heart, channelopathies are often considered as potential causes of death in otherwise unexplained forensic autopsies. The asymptomatic nature of channelopathies is cause for concern in family members who may be carrying genetic risk factors, making the identification of these genetic factors of significant clinical importance.

Congenital nephrotic syndrome.

Science.gov (United States)

Hamed, Radi Ma

2003-01-01

The congenital nephrotic syndrome (CNS) is an uncommon disorder with onset of the nephrotic syndrome usually in the first three months of life. Several different diseases may cause the syndrome. These may be inherited, sporadic, acquired or part of a general malformation syndrome. The clinical course is marked by failure to thrive, recurrent life threatening bacterial infections, and early death from sepsis and/or uremia. A characteristic phenotype may be seen in children with CNS. The majority of reported cases of CNS are of the Finnish type (CNF). Although the role of the glomerular basement membrane has been emphasized as the barrier for retaining plasma proteins, recent studies have clearly shown that the slit diaphragm is the structure most likely to be the barrier in the glomerular capillary wall. The gene (NPHS1) was shown to encode a novel protein that was termed nephrin, due to its specific location in the kidney filter barrier, where it seems to form a highly organized filter structure. Nephrin is a transmembrane protein that probably forms the main building block of an isoporous zipper-like slit diaphragm filter structure. Defects in nephrin lead to the abnormal or absent slit diaphragm resulting in massive proteinuria and renal failure.

Thermal and mechanical quantitative sensory testing in Chinese patients with burning mouth syndrome--a probable neuropathic pain condition?

Science.gov (United States)

Mo, Xueyin; Zhang, Jinglu; Fan, Yuan; Svensson, Peter; Wang, Kelun

2015-01-01

To explore the hypothesis that burning mouth syndrome (BMS) probably is a neuropathic pain condition, thermal and mechanical sensory and pain thresholds were tested and compared with age- and gender-matched control participants using a standardized battery of psychophysical techniques. Twenty-five BMS patients (men: 8, women: 17, age: 49.5 ± 11.4 years) and 19 age- and gender-matched healthy control participants were included. The cold detection threshold (CDT), warm detection threshold (WDT), cold pain threshold (CPT), heat pain threshold (HPT), mechanical detection threshold (MDT) and mechanical pain threshold (MPT), in accordance with the German Network of Neuropathic Pain guidelines, were measured at the following four sites: the dorsum of the left hand (hand), the skin at the mental foramen (chin), on the tip of the tongue (tongue), and the mucosa of the lower lip (lip). Statistical analysis was performed using ANOVA with repeated measures to compare the means within and between groups. Furthermore, Z-score profiles were generated, and exploratory correlation analyses between QST and clinical variables were performed. Two-tailed tests with a significance level of 5 % were used throughout. CDTs (P < 0.02) were significantly lower (less sensitivity) and HPTs (P < 0.001) were significantly higher (less sensitivity) at the tongue and lip in BMS patients compared to control participants. WDT (P = 0.007) was also significantly higher at the tongue in BMS patients compared to control subjects . There were no significant differences in MDT and MPT between the BMS patients and healthy subjects at any of the four test sites. Z-scores showed that significant loss of function can be identified for CDT (Z-scores = -0.9±1.1) and HPT (Z-scores = 1.5±0.4). There were no significant correlations between QST and clinical variables (pain intensity, duration, depressions scores). BMS patients had a significant loss of thermal function but not

Det hepatopulmonale syndrome

DEFF Research Database (Denmark)

Eibye, Simone Bendix; Christensen, Erik

2016-01-01

The hepatopulmonary syndrome (HPS) - a complication of liver disease - seems to be underdiagnosed, probably because of decreased awareness. HPS consists of the triade liver disease, intrapulmonary vascular dilatation and as a consequence arterial hypoxaemia. No medical therapy has proven effectiv...... perhaps with the exception of garlic, which has been effective in one controlled clinical trial. However, liver transplantation seems to improve HPS in most cases. Liver patients with unexplained hypoxaemia should be investigated for HPS....

Captopril in the hepatorenal syndrome

Energy Technology Data Exchange (ETDEWEB)

Cobden, I.; Shore, A.; Wilkinson, R.; Record, C.O.

1985-08-01

Five patients with hepatorenal syndrome were treated with the orally active angiotensin-converting enzyme inhibitor captopril (25 or 50 mg 6 hourly) for up to 48 hours. Only one patient showed a significant increase in urinary sodium concentration (from less than 10 to 70 mmol/liter), but without associated diuresis; renal function continued to deteriorate in all patients with persistent oliguria and rising serum creatinine. The outcome was uniformly fatal. These results suggest that in the hepatorenal syndrome, captopril in standard dosage is without benefit, and provide further evidence that the changes in the renin-angiotensin system are probably secondary to reduced renal perfusion from some other cause.

Twiddler-syndrom er en årsag til pacemaker elektrode displacering

DEFF Research Database (Denmark)

Grønbech, Keea Treu; Hansen, Michael Gilså

2013-01-01

Twiddler's syndrome is a rare cause of pacemaker electrode displacement. The displacement is caused by the patient's manipulation with the pacemaker, so the electrode is retracted. We describe a case of a 79-year-old overweight woman with a known psychiatric anamnesis, who was admitted twice...... with twiddler's syndrome. Age and overweight are known risk factors for twiddler's syndrome; and in this case the patient's psychiatric habitus was probably an additional risk factor. Before performing a pacemaker implantation it is important to take the patient's risk factors into account, and thus consider...

Toward a generalized probability theory: conditional probabilities

International Nuclear Information System (INIS)

Cassinelli, G.

1979-01-01

The main mathematical object of interest in the quantum logic approach to the foundations of quantum mechanics is the orthomodular lattice and a set of probability measures, or states, defined by the lattice. This mathematical structure is studied per se, independently from the intuitive or physical motivation of its definition, as a generalized probability theory. It is thought that the building-up of such a probability theory could eventually throw light on the mathematical structure of Hilbert-space quantum mechanics as a particular concrete model of the generalized theory. (Auth.)

Neonatal marfan syndrome: report of two cases.

Science.gov (United States)

Ghandi, Yazdan; Zanjani, Keyhan S; Mazhari-Mousavi, Seyed-Eshagh; Parvaneh, Nima

2013-02-01

Neonatal Marfan syndrome is a rare and severe phenotype of this disease. A poor prognosis is anticipated due to the high probability of congestive heart failure, and mitral and tricuspid regurgitations with suboptimal response to medical therapy and difficulties in surgical management at an early age. We present two consecutive patients with this disease who are the first reported cases from Iran to the best of our knowledge. Unfortunately both of them died shortly after diagnosis. Neonatal Marfan syndrome is reported from Iran and has a poor prognosis like the patients reported from elsewhere.

Firing probability and mean firing rates of human muscle vasoconstrictor neurones are elevated during chronic asphyxia

DEFF Research Database (Denmark)

Ashley, Cynthia; Burton, Danielle; Sverrisdottir, Yrsa B

2010-01-01

in the obstructive sleep apnoea syndrome (OSAS) is associated with an increase in firing probability and mean firing rate, and an increase in multiple within-burst firing. Here we characterize the firing properties of muscle vasoconstrictor neurones in patients with chronic obstructive pulmonary disease (COPD), who...... are chronically asphyxic. We tested the hypothesis that this elevated chemical drive would shift the firing pattern from that seen in healthy subjects to that seen in OSAS. The mean firing probability (52%) and mean firing rate (0.92 Hz) of 17 muscle vasoconstrictor neurones recorded in COPD were comparable...

Pathogenic and clinical aspects of polyneuropathies, with reference to the hand-arm vibration syndrome.

Science.gov (United States)

Juntunen, J; Taskinen, H

1987-08-01

Along with attacks of white finger, symptoms suggesting peripheral sensorimotor neuropathy, ie, polyneuropathy or entrapment neuropathy, are very important in the hand-arm vibration syndrome. Peripheral neuropathies are probably associated with the occurrence of the syndrome because of a selection mechanism. Polyneuropathy may be a contributing factor in the development of entrapment neuropathies in the upper extremities. It has multiple pathogenic mechanisms and numerous causative factors. However, peripheral nerves can react to pathological stimuli in a limited number of ways. Wallerian degeneration, segmental demyelination, and axonal degeneration are the classical neuropathological types of peripheral neuropathies, of which the first two are possible direct consequences of vibration exposure. The clinical manifestations of polyneuropathy range from sensory to motor types, sometimes with autonomic involvement. Whenever polyneuropathy is encountered in the hand-arm vibration syndrome, its etiologic possibilities should be considered. Regardless of the variable criteria used by different authors, individual diagnosis of the syndrome is always a probability diagnosis, and adequate neurological differential diagnostics have to be employed.

Quantum probability measures and tomographic probability densities

NARCIS (Netherlands)

Amosov, GG; Man'ko, [No Value

2004-01-01

Using a simple relation of the Dirac delta-function to generalized the theta-function, the relationship between the tomographic probability approach and the quantum probability measure approach with the description of quantum states is discussed. The quantum state tomogram expressed in terms of the

Channelopathies.

Science.gov (United States)

Kim, June-Bum

2014-01-01

Channelopathies are a heterogeneous group of disorders resulting from the dysfunction of ion channels located in the membranes of all cells and many cellular organelles. These include diseases of the nervous system (e.g., generalized epilepsy with febrile seizures plus, familial hemiplegic migraine, episodic ataxia, and hyperkalemic and hypokalemic periodic paralysis), the cardiovascular system (e.g., long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia), the respiratory system (e.g., cystic fibrosis), the endocrine system (e.g., neonatal diabetes mellitus, familial hyperinsulinemic hypoglycemia, thyrotoxic hypokalemic periodic paralysis, and familial hyperaldosteronism), the urinary system (e.g., Bartter syndrome, nephrogenic diabetes insipidus, autosomal-dominant polycystic kidney disease, and hypomagnesemia with secondary hypocalcemia), and the immune system (e.g., myasthenia gravis, neuromyelitis optica, Isaac syndrome, and anti-NMDA [N-methyl-D-aspartate] receptor encephalitis). The field of channelopathies is expanding rapidly, as is the utility of molecular-genetic and electrophysiological studies. This review provides a brief overview and update of channelopathies, with a focus on recent advances in the pathophysiological mechanisms that may help clinicians better understand, diagnose, and develop treatments for these diseases.

COVAL, Compound Probability Distribution for Function of Probability Distribution

International Nuclear Information System (INIS)

Astolfi, M.; Elbaz, J.

1979-01-01

1 - Nature of the physical problem solved: Computation of the probability distribution of a function of variables, given the probability distribution of the variables themselves. 'COVAL' has been applied to reliability analysis of a structure subject to random loads. 2 - Method of solution: Numerical transformation of probability distributions

On Probability Leakage

OpenAIRE

Briggs, William M.

2012-01-01

The probability leakage of model M with respect to evidence E is defined. Probability leakage is a kind of model error. It occurs when M implies that events $y$, which are impossible given E, have positive probability. Leakage does not imply model falsification. Models with probability leakage cannot be calibrated empirically. Regression models, which are ubiquitous in statistical practice, often evince probability leakage.

Nuclear imaging for the Cushing's syndrome etiological diagnosis

International Nuclear Information System (INIS)

Nocaudie, M.

2000-01-01

Etiologic diagnosing of a Cushing's syndrome relies upon the probabilities of the various causes of the pathologies. It takes advantage of the hormonal determinations to establish the mechanism of the hyper-secretion and of the radiological examination to detect morphological abnormalities. The scinti-scans are useful at this time only, to locate hyper-functioning tissue, to guide its resection and to suggest alternative option, either pharmaceutical or radio-metabolic. In the ACTH-independent Cushing's syndrome, noriodocholesterol scintigraphy can indicate that the adrenocortical hyper-functioning is unilateral or that it is bilateral. In the ACTH-dependent Cushing's syndrome, the current somatostatin radio-analogs have not proven their efficiency in pituitary ACTH-producing tumours but they are useful in the diagnosis and the management of bronchial carcinoids as of other neuro-endocrine tumors with the para-neoplastic Cushing's syndrome. (author)

Salivary SPECT and factor analysis in Sjoegren's syndrome

International Nuclear Information System (INIS)

Nakamura, T.; Oshiumi, Y.; Yonetsu, K.; Muranaka, T.; Sakai, K.; Kanda, S.; National Fukuoka Central Hospital

1991-01-01

Salivary SPECT and factor analysis in Sjoegren's syndrome were performed in 17 patients and 6 volunteers as controls. The ability of SPECT to detect small differences in the level of uptake can be used to separate glands from background even when uptake is reduced as in the patients with Sjoegren's syndrome. In control and probable Sjoegren's syndrome groups the uptake ratio of the submandibular gland to parotid gland on salivary SPECT (S/P ratio) was less than 1.0. However, in the definite Sjoergren's syndrome group, the ratio was more than 1.0. Moreover, the ratio in all patients with sialectasia, which is characteristic of Sjoegren's syndrome, was more than 1.0. Salivary factor analysis of normal parotid glands showed slowly increasing patterns of uptake and normal submandibular glands had rapidly increasing patterns of uptake. However, in the definite Sjoegren's syndrome group, the factor analysis patterns were altered, with slowly increasing patterns dominating both in the parotid and submandibular glands. These results suggest that the S/P ratio in salivary SPECT and salivary factor analysis provide additional radiologic criteria in diagnosing Sjoegren's syndrome. (orig.)

Testicular dysgenesis syndrome

DEFF Research Database (Denmark)

Skakkebaek, N E; Rajpert-De Meyts, E; Main, K M

2001-01-01

Numerous reports have recently focused on various aspects of adverse trends in male reproductive health, such as the rising incidence of testicular cancer; low and probably declining semen quality; high and possibly increasing frequencies of undescended testis and hypospadias; and an apparently...... summarizes existing evidence supporting a new concept that poor semen quality, testis cancer, undescended testis and hypospadias are symptoms of one underlying entity, the testicular dysgenesis syndrome (TDS), which may be increasingly common due to adverse environmental influences. Experimental...

Burning mouth syndrome

OpenAIRE

Jimson, Sudha; Rajesh, E.; Krupaa, R. Jayasri; Kasthuri, M.

2015-01-01

Burning mouth syndrome (BMS) is a complex disorder that is characterized by warm or burning sensation in the oral mucosa without changes on physical examination. It occurs more commonly in middle-aged and elderly women and often affects the tip of the tongue, lateral borders, lips, hard and soft palate. This condition is probably of multi-factorial origin, often idiopathic, and its etiopathogensis is unknown. BMS can be classified into two clinical forms namely primary and secondary BMS. As a...

Nephrotic Syndrome and Acute Renal Failure Apparently Induced by Sunitinib

Directory of Open Access Journals (Sweden)

Ying-Shou Chen

2009-10-01

Full Text Available We report a case of nephrotic syndrome and acute renal failure apparently induced by sunitinib. A 67-year-old man with a history of metastatic renal cell carcinoma presented with progressive kidney dysfunction with proteinuria, general edema, and body weight gain of 21 kg after undergoing 3 weeks of sunitinib therapy. The patient had taken no other over-the-counter medications, and all other possible causes of nephrotic syndrome were excluded. The Naranjo Adverse Drug Reaction Probability Scale score for this event was 6, indicating a high probability that the observed presentations were associated with use of the drug. However, despite the discontinuation of sunitinib, his condition deteriorated, and hemodialysis was initiated for respiratory distress. A renal biopsy was performed, which revealed ischemic acute tubular necrosis with minimal change nephropathy. In conclusion, nephrologists and oncologists should be aware that nephrotic syndrome with ischemic acute tubular necrosis is a possible adverse effect of sunitinib. For early diagnosis of this condition and to avoid renal damage, we recommend differential diagnosis of serum creatinine and proteinuria in patients undergoing sunitinib therapy.

Down syndrome: coercion and eugenics.

Science.gov (United States)

McCabe, Linda L; McCabe, Edward R B

2011-08-01

Experts agree that coercion by insurance companies or governmental authorities to limit reproductive choice constitutes a eugenic practice. We discuss discrimination against families of children with Down syndrome who chose not to have prenatal testing or chose to continue a pregnancy after a prenatal diagnosis. We argue that this discrimination represents economic and social coercion to limit reproductive choice, and we present examples of governmental rhetoric and policies condoning eugenics and commercial policies meeting criteria established by experts for eugenics. Our purpose is to sensitize the clinical genetics community to these issues as we attempt to provide the most neutral nondirective prenatal genetic counseling we can, and as we provide postnatal care and counseling to children with Down syndrome and their families. We are concerned that if eugenic policies and practices targeting individuals with Down syndrome and their families are tolerated by clinical geneticists and the broader citizenry, then we increase the probability of eugenics directed toward other individuals and communities.

Blepharophimosis, ptosis, epicanthus inversus syndrome type 2 with ...

African Journals Online (AJOL)

Our patient had normal psychomotor development. His father was similarly affected suggesting autosomal dominant inheritance. The patient had red brown hair, lymphedema of lower limbs and kidney stones which were not reported before with this syndrome. Most probably these additional features are associations with ...

Progeria syndrome: A case report

Directory of Open Access Journals (Sweden)

Rastogi Rajul

2008-01-01

Full Text Available Progeria is a rare and peculiar combination of dwarfism and premature aging. The incidence is one in several million births. It occurs sporadically and is probably an autosomal recessive syndrome. Though the clinical presentation is usually typical, conventional radiological and biochemical investigations help in confirming the diagnosis. We present a rare case of progeria with most of the radiological features as a pictorial essay.

The prevalence of probable delayed-sleep-phase syndrome in students from junior high school to university in Tottori, Japan.

Science.gov (United States)

Hazama, Gen-i; Inoue, Yuichi; Kojima, Kazushige; Ueta, Toshiyuki; Nakagome, Kazuyuki

2008-09-01

Delayed sleep phase syndrome (DSPS) is a circadian rhythm sleep disorder with a typical onset in the second decade of life. DSPS is characterized by the sleep-onset insomnia and the difficulty in waking at the desired time in the morning. Although DSPS is associated with inability to attend school, the prevalence has been controversial. To elucidate a change in the prevalence of DSPS among young population, epidemiological survey was conducted on Japanese students. A total of 4,971 students of junior high school, senior high school, and university were enrolled in this cross sectional study in Tottori Prefecture. They answered anonymous screening questionnaire regarding school schedule, sleep hygiene and symptomatic items of sleep disorders. The prevalence of probable DSPS was estimated at 0.48% among the total subject students without gender difference. In university, the prevalence of the last year students showed the highest value (1.66%), while that of the first year students showed the lowest value (0.09%) among all school years from junior high school to university. The prevalence increased with advancing university school years. Thus, a considerable number of Japanese students are affected with DSPS. Senior students of university are more vulnerable to the disorder than younger students. Appropriate school schedule may decrease the mismatch between the individual's sleep-wake cycle and the school schedule. Promotion of a regular sleep habit is necessary to prevent DSPS among this population.

Quantum probabilities as Dempster-Shafer probabilities in the lattice of subspaces

International Nuclear Information System (INIS)

Vourdas, A.

2014-01-01

The orthocomplemented modular lattice of subspaces L[H(d)], of a quantum system with d-dimensional Hilbert space H(d), is considered. A generalized additivity relation which holds for Kolmogorov probabilities is violated by quantum probabilities in the full lattice L[H(d)] (it is only valid within the Boolean subalgebras of L[H(d)]). This suggests the use of more general (than Kolmogorov) probability theories, and here the Dempster-Shafer probability theory is adopted. An operator D(H 1 ,H 2 ), which quantifies deviations from Kolmogorov probability theory is introduced, and it is shown to be intimately related to the commutator of the projectors P(H 1 ),P(H 2 ), to the subspaces H 1 , H 2 . As an application, it is shown that the proof of the inequalities of Clauser, Horne, Shimony, and Holt for a system of two spin 1/2 particles is valid for Kolmogorov probabilities, but it is not valid for Dempster-Shafer probabilities. The violation of these inequalities in experiments supports the interpretation of quantum probabilities as Dempster-Shafer probabilities

Acute trauma-induced Budd-Chiari syndrome

International Nuclear Information System (INIS)

Izard, G.; Houri, R.; Randrianasolo, S.; Gailleton, R.

1995-01-01

The diagnosis of Budd-Chiari syndrome is based on clinical signs including liver enlargement and ascites and findings of complementary examinations: echography, echo-Doppler, cat scanning (CT-scan), magnetic resonance imaging, angiography, pressure readings, laparoscopy and biopsy. Trauma is rarely reported as a cause of acute Budd-Chiari syndrome. In some cases, the trauma is so violent the supra-hepatic veins are ruptured and the dramatic outcome leaves no time for the syndrome to develop. In others, the resulting haematomas form a compression block of the supra hepatic vessels. The mechanism of the trauma in our case appears to have been unreported to date. Four days after a violent motorcycle accident, a 33-year-old man developed an acute Budd-Chiari syndrome probably due to partial and temporary thrombosis of the left and middle supra hepatic veins. A side-to-side porto-cava anastomosis with a calibrated venous graft was performed in an emergency procedure. Outcome was quite favourable and after a 4 year follow-up, the patient is in good health. (authors). 13 refs

PROBABILITY SURVEYS , CONDITIONAL PROBABILITIES AND ECOLOGICAL RISK ASSESSMENT

Science.gov (United States)

We show that probability-based environmental resource monitoring programs, such as the U.S. Environmental Protection Agency's (U.S. EPA) Environmental Monitoring and Assessment Program, and conditional probability analysis can serve as a basis for estimating ecological risk over ...

Autonomic and cardio-respiratory responses to exercise in Brugada Syndrome patients

Directory of Open Access Journals (Sweden)

Raoyrin Chanavirut, MSc

2016-10-01

Conclusion: Thai BrS patients had a more rapid rate of restoration of the parasympathetic and smaller level of sympathetic activation after exercise. They had mild hyperkalemia which is reduced according to the exercise. Furthermore, they exhibited impaired cardio-respiratory fitness.

Metabolic syndrome in fixed-shift workers.

Science.gov (United States)

Canuto, Raquel; Pattussi, Marcos Pascoal; Macagnan, Jamile Block Araldi; Henn, Ruth Liane; Olinto, Maria Teresa Anselmo

2015-01-01

OBJECTIVE To analyze if metabolic syndrome and its altered components are associated with demographic, socioeconomic and behavioral factors in fixed-shift workers. METHODS A cross-sectional study was conducted on a sample of 902 shift workers of both sexes in a poultry processing plant in Southern Brazil in 2010. The diagnosis of metabolic syndrome was determined according to the recommendations from Harmonizing the Metabolic Syndrome. Its frequency was evaluated according to the demographic (sex, skin color, age and marital status), socioeconomic (educational level, income and work shift), and behavioral characteristics (smoking, alcohol intake, leisure time physical activity, number of meals and sleep duration) of the sample. The multivariate analysis followed a theoretical framework for identifying metabolic syndrome in fixed-shift workers. RESULTS The prevalence of metabolic syndrome in the sample was 9.3% (95%CI 7.4;11.2). The most frequently altered component was waist circumference (PR 48.4%; 95%CI 45.5;51.2), followed by high-density lipoprotein. Work shift was not associated with metabolic syndrome and its altered components. After adjustment, the prevalence of metabolic syndrome was positively associated with women (PR 2.16; 95%CI 1.28;3.64), workers aged over 40 years (PR 3.90; 95%CI 1.78;8.93) and those who reported sleeping five hours or less per day (PR 1.70; 95%CI 1.09;2.24). On the other hand, metabolic syndrome was inversely associated with educational level and having more than three meals per day (PR 0.43; 95%CI 0.26;0.73). CONCLUSIONS Being female, older and deprived of sleep are probable risk factors for metabolic syndrome, whereas higher educational level and higher number of meals per day are protective factors for metabolic syndrome in fixed-shift workers.

Metabolic syndrome in fixed-shift workers

Directory of Open Access Journals (Sweden)

Raquel Canuto

2015-01-01

Full Text Available OBJECTIVE To analyze if metabolic syndrome and its altered components are associated with demographic, socioeconomic and behavioral factors in fixed-shift workers. METHODS A cross-sectional study was conducted on a sample of 902 shift workers of both sexes in a poultry processing plant in Southern Brazil in 2010. The diagnosis of metabolic syndrome was determined according to the recommendations from Harmonizing the Metabolic Syndrome. Its frequency was evaluated according to the demographic (sex, skin color, age and marital status, socioeconomic (educational level, income and work shift, and behavioral characteristics (smoking, alcohol intake, leisure time physical activity, number of meals and sleep duration of the sample. The multivariate analysis followed a theoretical framework for identifying metabolic syndrome in fixed-shift workers. RESULTS The prevalence of metabolic syndrome in the sample was 9.3% (95%CI 7.4;11.2. The most frequently altered component was waist circumference (PR 48.4%; 95%CI 45.5;51.2, followed by high-density lipoprotein. Work shift was not associated with metabolic syndrome and its altered components. After adjustment, the prevalence of metabolic syndrome was positively associated with women (PR 2.16; 95%CI 1.28;3.64, workers aged over 40 years (PR 3.90; 95%CI 1.78;8.93 and those who reported sleeping five hours or less per day (PR 1.70; 95%CI 1.09;2.24. On the other hand, metabolic syndrome was inversely associated with educational level and having more than three meals per day (PR 0.43; 95%CI 0.26;0.73. CONCLUSIONS Being female, older and deprived of sleep are probable risk factors for metabolic syndrome, whereas higher educational level and higher number of meals per day are protective factors for metabolic syndrome in fixed-shift workers.

Probability of Accurate Heart Failure Diagnosis and the Implications for Hospital Readmissions.

Science.gov (United States)

Carey, Sandra A; Bass, Kyle; Saracino, Giovanna; East, Cara A; Felius, Joost; Grayburn, Paul A; Vallabhan, Ravi C; Hall, Shelley A

2017-04-01

Heart failure (HF) is a complex syndrome with inherent diagnostic challenges. We studied the scope of possibly inaccurately documented HF in a large health care system among patients assigned a primary diagnosis of HF at discharge. Through a retrospective record review and a classification schema developed from published guidelines, we assessed the probability of the documented HF diagnosis being accurate and determined factors associated with HF-related and non-HF-related hospital readmissions. An arbitration committee of 3 experts reviewed a subset of records to corroborate the results. We assigned a low probability of accurate diagnosis to 133 (19%) of the 712 patients. A subset of patients were also reviewed by an expert panel, which concluded that 13% to 35% of patients probably did not have HF (inter-rater agreement, kappa = 0.35). Low-probability HF was predictive of being readmitted more frequently for non-HF causes (p = 0.018), as well as documented arrhythmias (p = 0.023), and age >60 years (p = 0.006). Documented sleep apnea (p = 0.035), percutaneous coronary intervention (p = 0.006), non-white race (p = 0.047), and B-type natriuretic peptide >400 pg/ml (p = 0.007) were determined to be predictive of HF readmissions in this cohort. In conclusion, approximately 1 in 5 patients documented to have HF were found to have a low probability of actually having it. Moreover, the determination of low-probability HF was twice as likely to result in readmission for non-HF causes and, thus, should be considered a determinant for all-cause readmissions in this population. Copyright © 2017 Elsevier Inc. All rights reserved.

Probability an introduction

CERN Document Server

Goldberg, Samuel

1960-01-01

Excellent basic text covers set theory, probability theory for finite sample spaces, binomial theorem, probability distributions, means, standard deviations, probability function of binomial distribution, more. Includes 360 problems with answers for half.

Hemophagocytic syndrome secondary to tuberculosis at 24-week gestation.

Science.gov (United States)

Fernández, Alexandra Arteaga; de Velasco Pérez, David Fernández; Fournier, M C Jiménez; Moreno Del Prado, J C; Torras, B Paraíso; Cañete Palomo, M L

2017-01-01

Hemophagocytic syndrome is a life-threatening disease characterized by the uncontrolled activation of macrophages, resulting in hemophagocytosis of blood cells in the bone marrow. A 20-year-old gravida at 23-week and 5-day gestation was admitted to hospital to evaluate fever up to 104°F of unknown origin, moderate cytopenia, and elevated levels of liver enzymes. Bone marrow biopsy confirmed hemophagocytic syndrome, and polymerase chain reaction came back positive for Mycobacterium tuberculosis. Supportive care and tuberculosis treatment resulted in clinical improvement. At 27 weeks and 5 days, premature rupture of the membranes occurred, and because of the high probability of reactivating the hemophagocytic syndrome, a cesarean section was performed at 29-week and 2-day gestation. Hemophagocytic syndrome is an uncommon disease which rarely appears during pregnancy. Early diagnosis and treatment can save both maternal and fetal lives.

Study of the Association between H. pylori Infection and Acute Coronary Syndrome

Directory of Open Access Journals (Sweden)

Nasrin Fouladi

2012-04-01

Full Text Available Background & Objectives: Coronary artery disease is the main cause of mortality in developing and industrial countries. Recently the involvement of infectious agents as a risk factor for Acute Coronary syndrome is drafted. So this study was designed to investigate the probable association between Acute Coronary syndrome and Helicobacter pylori infection.   Methods: This case-control study was carried out on 300 hospitalized patients with the diagnosis of Acute Coronary syndrome (UA and MI and 300 hospitalized patients without the history of coronary heart disease. Anti Helicobacter pylori Antibody level was determined by as an indicator of infection history. Using chi-square and t- test the results were analyzed in SPSS software.   Results: Results showed that 79 patients (26.3% in control group and 122 patients (40.6% in case group were seropositive and the difference was significant. Relationship between cronory diseases risk factors and levels of IgG was not significant. Also the results showed that the rate of hypertension in seropositive patients in case group was significantly upper than control group.   Conclusion: Regarding the findings of this study we can conclude that Helicobacter pylori infection probably is a risk factor for Acute Coronary Syndrome. Thus, further studies are needed to elucidate the association between Helicobacter pylori infection and Acute Coronary Syndrome.

Probability 1/e

Science.gov (United States)

Koo, Reginald; Jones, Martin L.

2011-01-01

Quite a number of interesting problems in probability feature an event with probability equal to 1/e. This article discusses three such problems and attempts to explain why this probability occurs with such frequency.

Sudden cardiac death

Directory of Open Access Journals (Sweden)

Neeraj Parakh

2015-01-01

Full Text Available Sudden cardiac death is one of the most common cause of mortality worldwide. Despite significant advances in the medical science, there is little improvement in the sudden cardiac death related mortality. Coronary artery disease is the most common etiology behind sudden cardiac death, in the above 40 years population. Even in the apparently healthy population, there is a small percentage of patients dying from sudden cardiac death. Given the large denominator, this small percentage contributes to the largest burden of sudden cardiac death. Identification of this at risk group among the apparently healthy individual is a great challenge for the medical fraternity. This article looks into the causes and methods of preventing SCD and at some of the Indian data. Details of Brugada syndrome, Long QT syndrome, Genetics of SCD are discussed. Recent guidelines on many of these causes are summarised.

The molecular autopsy: an indispensable step following sudden cardiac death in the young?

Science.gov (United States)

Boczek, Nicole J.; Tester, David J.; Ackerman, Michael J.

2013-01-01

Annually thousands of sudden deaths involving young individuals (autopsy. In fact, epidemiological studies have estimated that over half of sudden deaths involving previously healthy young individuals have no morphological abnormalities identifiable at autopsy. Cardiac channelopathies associated with structurally normal hearts such as long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and Brugada syndrome (BrS), leave no evidence to be found at autopsy, leaving investigators to only speculate that a lethal arrhythmia might lie at the heart of a sudden unexplained death (SUD). In cases of autopsy-negative SUD, continued investigation, through the use of a cardiological and genetic evaluation of first- or second-degree relatives and/or a molecular autopsy, may pinpoint the underlying mechanism attributing to the sudden death and allow for the identification of living family members with the pathogenic substrate that renders them vulnerable to an increased risk for cardiac events, including sudden death. PMID:22993115

Congenital staphylococcal scalded skin syndrome in a premature infant

NARCIS (Netherlands)

Haveman, LM; Fleer, A; de Vries, LS; Gerards, LJ

2004-01-01

A case of congenital staphylococcal scalded skin syndrome (SSSS) with fatal outcome in a premature infant is reported. An intrauterine infection with Staphylococcus aureus was probably the cause for the fulminant course of the disease. Despite adequate antibiotic treatment, the infant died within 24

Rheumatic fever associated with antiphospholipid syndrome: systematic review.

Science.gov (United States)

da Silva, Felipe; de Carvalho, Jozélio

2014-01-01

To evaluate the clinical associations between rheumatic fever and antiphospholipid syndrome and the impact of coexistence of these two diseases in an individual. Systematic review in electronics databases, regarding the period from 1983 to 2012. The keywords: "Rheumatic Fever," "Antiphospholipid Syndrome," and "Antiphospholipid Antibody Syndrome" are used. were identified 11 cases described in the literature about the association of rheumatic fever and antiphospholipid syndrome. Clinical presentation of rheumatic fever was characterized by the predominance of carditis (11/11) and chorea (7/11). Regarding the manifestations of APS, the stroke was observed in 7/11 (63.6%), with one of them having probable embolic origin. The present study brings the information that the association between APS and RF is quite rare, however, is of great clinical importance. Doctors who deal with the RF should include in their differential diagnosis the APS, especially in the presence of stroke in patients with RF and whose echocardiogram does not show intracavitary thrombi.

Identifying potential functional impact of mutations and polymorphisms: Linking heart failure, increased risk of arrhythmias and sudden cardiac death.

Directory of Open Access Journals (Sweden)

BENOIT eJAGU

2013-09-01

Full Text Available Researchers and clinicians have discovered several important concepts regarding the mechanisms responsible for increased risk of arrhythmias, heart failure and sudden cardiac death. One major step in defining the molecular basis of normal and abnormal cardiac electrical behaviour has been the identification of single mutations that greatly increase the risk for arrhythmias and sudden cardiac death by changing channel-gating characteristics. Indeed, mutations in several genes encoding ion channels, such as SCN5A, which encodes the major cardiac Na+ channel, have emerged as the basis for a variety of inherited cardiac arrhythmias such as long QT syndrome, Brugada syndrome, progressive cardiac conduction disorder, sinus node dysfunction or sudden infant death syndrome. In addition, genes encoding ion channel accessory proteins, like anchoring or chaperone proteins, which modify the expression, the regulation of endocytosis and the degradation of ion channel α-subunits have also been reported as susceptibility genes for arrhythmic syndromes. The regulation of ion channel protein expression also depends on a fine-tuned balance among different other mechanisms, such as gene transcription, RNA processing, post-transcriptional control of gene expression by miRNA, protein synthesis, assembly and post-translational modification and trafficking.

Foundations of probability

International Nuclear Information System (INIS)

Fraassen, B.C. van

1979-01-01

The interpretation of probabilities in physical theories are considered, whether quantum or classical. The following points are discussed 1) the functions P(μ, Q) in terms of which states and propositions can be represented, are classical (Kolmogoroff) probabilities, formally speaking, 2) these probabilities are generally interpreted as themselves conditional, and the conditions are mutually incompatible where the observables are maximal and 3) testing of the theory typically takes the form of confronting the expectation values of observable Q calculated with probability measures P(μ, Q) for states μ; hence, of comparing the probabilities P(μ, Q)(E) with the frequencies of occurrence of the corresponding events. It seems that even the interpretation of quantum mechanics, in so far as it concerns what the theory says about the empirical (i.e. actual, observable) phenomena, deals with the confrontation of classical probability measures with observable frequencies. This confrontation is studied. (Auth./C.F.)

[Polycystic ovary syndrome: an example of obesity-related cardiovascular complication affecting young women].

Science.gov (United States)

Orio, Francesco; Cascella, Teresa; Giallauria, Francesco; Palomba, Stefano; De Lorenzo, Anna; Lucci, Rosa; Ambrosino, Elena; Lombardi, Gaetano; Colao, Annamaria; Vigorito, Carlo

2006-03-01

Polycystic ovary syndrome (PCOS) is a good example of obesity-related cardiovascular complication affecting young women. PCOS is not only considered a reproductive problem but rather represents a complex endocrine, multifaceted syndrome with important health implications. Several evidences suggest an increased cardiovascular risk of cardiovascular disease associated with this syndrome, characterized by an impairment of heart structure and function, endothelial dysfunction and lipid abnormalities. All these features, probably linked to insulin-resistance, are often present in obese PCOS patients. Cardiovascular abnormalities represent important long-term sequelae of PCOS that need further investigations.

Non-Archimedean Probability

NARCIS (Netherlands)

Benci, Vieri; Horsten, Leon; Wenmackers, Sylvia

We propose an alternative approach to probability theory closely related to the framework of numerosity theory: non-Archimedean probability (NAP). In our approach, unlike in classical probability theory, all subsets of an infinite sample space are measurable and only the empty set gets assigned

Bladder pain syndrome/interstitial cystitis as a functional somatic syndrome.

Science.gov (United States)

Warren, John W

2014-12-01

To determine whether bladder pain syndrome/interstitial cystitis (BPS/IC) has the characteristics of a functional somatic syndrome (FSS). There is no accepted definition of an FSS. Consequently, this paper reviewed the literature for common FSS characteristics and for reports that BPS/IC has these characteristics. Eleven articles met inclusion and exclusion criteria and yielded 18 FSS characteristics. BPS/IC patients manifest all but two: the exceptions were normal light microscopic anatomy (after hydrodistention under anesthesia, some BPS/IC bladders have Hunner's lesions and most have petechial hemorrhages) and normal laboratory tests (many BPS/IC patients have hematuria). Petechial hemorrhages and hematuria are probably related and may appear during naturally-occurring bladder distention. Without such distention, then, the 90% of BPS/IC patients without a Hunner's lesion have all the characteristics of an FSS. Comparisons in the opposite direction were consistent: several additional features of BPS/IC were found in FSSs. This systematic but untested method is consistent with but does not test the hypothesis that BPS/IC in some patients might best be understood as an FSS. Like most conditions, BPS/IC is probably heterogeneous; hence only a proportion of BPS/IC cases are likely to be manifestations of an FSS. This hypothesis has several implications. Explorations of processes that connect the FSSs might contribute to understanding the pathogenesis of BPS/IC. Patients with FSSs are at risk for BPS/IC and may benefit from future preventive strategies. Therapies that are useful in FSSs also may be useful in some cases of BPS/IC. Copyright © 2014 Elsevier Inc. All rights reserved.

Handbook of probability

CERN Document Server

Florescu, Ionut

2013-01-01

THE COMPLETE COLLECTION NECESSARY FOR A CONCRETE UNDERSTANDING OF PROBABILITY Written in a clear, accessible, and comprehensive manner, the Handbook of Probability presents the fundamentals of probability with an emphasis on the balance of theory, application, and methodology. Utilizing basic examples throughout, the handbook expertly transitions between concepts and practice to allow readers an inclusive introduction to the field of probability. The book provides a useful format with self-contained chapters, allowing the reader easy and quick reference. Each chapter includes an introductio

Probability-1

CERN Document Server

Shiryaev, Albert N

2016-01-01

This book contains a systematic treatment of probability from the ground up, starting with intuitive ideas and gradually developing more sophisticated subjects, such as random walks, martingales, Markov chains, the measure-theoretic foundations of probability theory, weak convergence of probability measures, and the central limit theorem. Many examples are discussed in detail, and there are a large number of exercises. The book is accessible to advanced undergraduates and can be used as a text for independent study. To accommodate the greatly expanded material in the third edition of Probability, the book is now divided into two volumes. This first volume contains updated references and substantial revisions of the first three chapters of the second edition. In particular, new material has been added on generating functions, the inclusion-exclusion principle, theorems on monotonic classes (relying on a detailed treatment of “π-λ” systems), and the fundamental theorems of mathematical statistics.

Probability Machines: Consistent Probability Estimation Using Nonparametric Learning Machines

Science.gov (United States)

Malley, J. D.; Kruppa, J.; Dasgupta, A.; Malley, K. G.; Ziegler, A.

2011-01-01

Summary Background Most machine learning approaches only provide a classification for binary responses. However, probabilities are required for risk estimation using individual patient characteristics. It has been shown recently that every statistical learning machine known to be consistent for a nonparametric regression problem is a probability machine that is provably consistent for this estimation problem. Objectives The aim of this paper is to show how random forests and nearest neighbors can be used for consistent estimation of individual probabilities. Methods Two random forest algorithms and two nearest neighbor algorithms are described in detail for estimation of individual probabilities. We discuss the consistency of random forests, nearest neighbors and other learning machines in detail. We conduct a simulation study to illustrate the validity of the methods. We exemplify the algorithms by analyzing two well-known data sets on the diagnosis of appendicitis and the diagnosis of diabetes in Pima Indians. Results Simulations demonstrate the validity of the method. With the real data application, we show the accuracy and practicality of this approach. We provide sample code from R packages in which the probability estimation is already available. This means that all calculations can be performed using existing software. Conclusions Random forest algorithms as well as nearest neighbor approaches are valid machine learning methods for estimating individual probabilities for binary responses. Freely available implementations are available in R and may be used for applications. PMID:21915433

Burning mouth syndrome: Present perspective

OpenAIRE

Ramesh Parajuli

2015-01-01

Introduction: Burning mouth syndrome is characterized by chronic oral pain or burning sensation affecting the oral mucosa in the absence of obvious visible mucosal lesions. Patient presenting with the burning mouth sensation or pain is frequently encountered in clinical practice which poses a challenge to the treating clinician. Its exact etiology remains unknown which probably has multifactorial origin. It often affects middle or old age women and it may be accompanied by xerostomia and alte...

Hemophagocytic syndrome secondary to tuberculosis at 24-week gestation

Directory of Open Access Journals (Sweden)

Alexandra Arteaga Fernández

2017-01-01

Full Text Available Hemophagocytic syndrome is a life-threatening disease characterized by the uncontrolled activation of macrophages, resulting in hemophagocytosis of blood cells in the bone marrow. A 20-year-old gravida at 23-week and 5-day gestation was admitted to hospital to evaluate fever up to 104°F of unknown origin, moderate cytopenia, and elevated levels of liver enzymes. Bone marrow biopsy confirmed hemophagocytic syndrome, and polymerase chain reaction came back positive for Mycobacterium tuberculosis. Supportive care and tuberculosis treatment resulted in clinical improvement. At 27 weeks and 5 days, premature rupture of the membranes occurred, and because of the high probability of reactivating the hemophagocytic syndrome, a cesarean section was performed at 29-week and 2-day gestation. Hemophagocytic syndrome is an uncommon disease which rarely appears during pregnancy. Early diagnosis and treatment can save both maternal and fetal lives.

Horner's syndrome caused by an intercostal chest drain.

OpenAIRE

Campbell, P; Neil, T; Wake, P N

1989-01-01

Horner's syndrome occurred in a young woman as a complication of the treatment of a traumatic pneumothorax with an intercostal drain. The nerve damage probably occurred when the lung had fully re-expanded, pressing the tip of the intercostal drain, lying at the apex of the pleural cavity, on to the sympathetic chain.

Syndrome of hajdu-cheney: three case reports of orofacial interest.

NARCIS (Netherlands)

Vingerhoedt, E.; Bailleul-Forestier, I.; Fellus, P.; Schoenaers, J.; Fryns, J.P.; Carels, C.E.L.

2010-01-01

Abstract Hajdu-Cheney syndrome is a rare, probably autosomal dominant connective tissue disorder with a variable expressivity. It is characterized by an osteoporotic skeleton, acro-osteolysis, a proportionate short stature, and distinctive orofacial anomalies. The aim of this article is to focus on

[Jerusalem syndrome - a case report].

Science.gov (United States)

Poleszczyk, Anna; Swiecicki, Łukasz

2013-01-01

The aim of the paper was to present the case of a patient who developed acute psychotic symptoms on her visit to Jerusalem. The analysis of the clinical case and medical history. The presented 62-year-old women with a history of previous psychiatric disorder arrived with her husband to Jerusalem as a part of organised touristic group. She developed acute psychotic reaction through some stages characteristic for the third type of Jerusalem syndrome. Symptoms resolved completely soon after returning to Poland and admission to the hospital where an antipsychotic treatment was performed. Despite the rare occurrence of this phenomenon, it is worth noting that we can divide Jerusalem syndrome into three types depending on its clinical course, patient's history of previous psychiatric disorders and this division has some clinical implications. This syndrome can be also considered in the context of some factors connected with travelling in general which may be responsible for psychiatric disturbances occurring among travelers. The course of psychiatric disturbances in the presented patient resembled the third type of Jerusalem syndrome despite her past psychiatric history and probably travelling caused her decompensations. In clinical practice we have to remember that in case of the patients with a known psychiatric history, clinical evaluation may be useful before travelling. In previously healthy patients developing the third type of the Jerusalem syndrome early intervention and separation from Jerusalem and its holy places and their contact with family are crucial for soon recovery.

[RIT1: a novel gene associated with Noonan syndrome].

Science.gov (United States)

Arroyo-Carrera, I; Solo de Zaldivar-Tristancho, M; Martin-Fernandez, R; Vera-Torres, M; Gonzalez de Buitrago-Amigo, J F; Botet-Rodriguez, J

2016-10-16

Noonan syndrome is the most frequent of the congenital group of malformation syndromes caused by germline mutations that encode components of the RAS/MAPK pathway, termed RASopathies, one of the most frequent congenital genetic disorders in the clinical practice. Recently RIT1 mutations have been reported in patients with Noonan syndrome. A 7 years-old girl with a clinical diagnosis of Noonan syndrome, and with a hypertrophic cardiomyopathy included in her clinical manifestations, where a de novo heterozygous, probably pathogenic, novel mutation in RIT1, c.295T>C (p.Phe99Leu), has been identified. RIT1 shares homology with other RAS proteins and the expression of mutant alleles demonstrates a gain-of-function effect supporting a causative role in Noonan syndrome pathogenesis. Data suggest that the frequency of RIT1 mutations can be estimated as 3-5% in Noonan syndrome patients. These cases compared with Noonan patients harboring mutations in other genes are characterized by high frequency of prenatal abnormalities and hypertrophic cardiomyopathy, and lower frequencies of short stature and pectus abnormalities. We emphasize the importance of the novel identified genes in order to be included in the diagnostic panels.

Janus-faced probability

CERN Document Server

Rocchi, Paolo

2014-01-01

The problem of probability interpretation was long overlooked before exploding in the 20th century, when the frequentist and subjectivist schools formalized two conflicting conceptions of probability. Beyond the radical followers of the two schools, a circle of pluralist thinkers tends to reconcile the opposing concepts. The author uses two theorems in order to prove that the various interpretations of probability do not come into opposition and can be used in different contexts. The goal here is to clarify the multifold nature of probability by means of a purely mathematical approach and to show how philosophical arguments can only serve to deepen actual intellectual contrasts. The book can be considered as one of the most important contributions in the analysis of probability interpretation in the last 10-15 years.

Burning mouth syndrome: an enigmatic disorder.

Science.gov (United States)

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.

[Effect of psychosocial work environment and job satisfaction on burnout syndrome among specialist physicians].

Science.gov (United States)

Escribà-Agüir, Vicenta; Artazcoz, Lucía; Pérez-Hoyos, Santiago

2008-01-01

To describe the prevalence of burnout syndrome according to medical specialty and to examine the impact of work psychosocial risk factors, job satisfaction and professional characteristics on burnout syndrome among specialist physicians throughout Spain. A cross-sectional survey was carried out among 1,021 Spanish physicians. The outcome variables were the 3 dimensions of burnout syndrome: emotional exhaustion, depersonalization, and personal accomplishment. The explanatory variables were work psychosocial risk factors and job satisfaction evaluated by a stress scale specifically designed for physicians. Adjusted odds ratios and their 95% confidence intervals were calculated by logistic regression. The probability of high emotional exhaustion and depersonalization were greater in physicians exposed to a high level of contact with suffering and death and to a negative impact of work on home life. The probability of high emotional exhaustion was greater among physicians with a high work overload. The risk of low personal accomplishment was higher among physicians with low professional satisfaction and those without training activities. Dissatisfaction with relationships with patients and relatives had a negative effect on the 3 dimensions of burnout. Psychosocial work environment and job satisfaction have a negative effect on burnout syndrome, especially on emotional exhaustion and depersonalization.

c.376G>A mutation in WFS1 gene causes Wolfram syndrome without deafness.

Science.gov (United States)

Safarpour Lima, Behnam; Ghaedi, Hamid; Daftarian, Narsis; Ahmadieh, Hamid; Jamshidi, Javad; Khorrami, Mehdi; Noroozi, Rezvan; Sohrabifar, Nasim; Assarzadegan, Farhad; Hesami, Omid; Taghavi, Shaghayegh; Ahmadifard, Azadeh; Atakhorrami, Minoo; Rahimi-Aliabadi, Simin; Shahmohammadibeni, Neda; Alehabib, Elham; Andarva, Monavvar; Darvish, Hossein; Emamalizadeh, Babak

2016-02-01

Wolfram syndrome is one of the rare autosomal recessive, progressive, neurodegenerative disorders, characterized by diabetes mellitus and optic atrophy. Several other features are observed in patients including deafness, ataxia, and peripheral neuropathy. A gene called WFS1 is identified on chromosome 4p, responsible for Wolfram syndrome. We investigated a family consisted of parents and 8 children, which 5 of them have been diagnosed for Wolfram syndrome. WFS1 gene in all family members was sequenced for causative mutations. A mutation (c.376G>A, p.A126T) was found in all affected members in homozygous state and in both parents in heterozygous state. The bioinformatics analysis showed the deleterious effects of this nucleotide change on the structure and function of the protein product. As all of the patients in the family showed the homozygote mutation, and parents were both heterozygote, this mutation is probably the cause of the disease. We identified this mutation in homozygous state for the first time as Wolfram syndrome causation. We also showed that this mutation probably doesn't cause deafness in affected individuals. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Ruin probabilities

DEFF Research Database (Denmark)

Asmussen, Søren; Albrecher, Hansjörg

The book gives a comprehensive treatment of the classical and modern ruin probability theory. Some of the topics are Lundberg's inequality, the Cramér-Lundberg approximation, exact solutions, other approximations (e.g., for heavy-tailed claim size distributions), finite horizon ruin probabilities......, extensions of the classical compound Poisson model to allow for reserve-dependent premiums, Markov-modulation, periodicity, change of measure techniques, phase-type distributions as a computational vehicle and the connection to other applied probability areas, like queueing theory. In this substantially...... updated and extended second version, new topics include stochastic control, fluctuation theory for Levy processes, Gerber–Shiu functions and dependence....

Challenging behavior: Behavioral phenotypes of some genetic syndromes

Directory of Open Access Journals (Sweden)

Buha Nataša

2014-01-01

Full Text Available Challenging behavior in individuals with mental retardation (MR is relatively frequent, and represents a significant obstacle to adaptive skills. The frequency of specific forms and manifestations of challenging behavior can depend on a variety of personal and environmental factors. There are several prominent theoretical models regarding the etiology of challenging behavior and psychopathology in persons with MR: behavioral, developmental, socio-cultural and biological. The biological model emphasizes the physiological, biochemical and genetic factors as the potential source of challenging behavior. The progress in the field of genetics and neuroscience has opened the opportunity to study and discover the neurobiological basis of phenotypic characteristics. Genetic syndromes associated with MR can be followed by a specific set of problems and disorders which constitutes their behavioral phenotype. The aim of this paper was to present challenging behaviors that manifest in the most frequently studied syndromes: Down syndrome, Fragile X syndrome, Williams syndrome, Prader-Willi syndrome and Angelman syndrome. The concept of behavioral phenotype implies a higher probability of manifesting specific developmental characteristics and specific behaviors in individuals with a certain genetic syndrome. Although the specific set of (possible problems and disorders is distinctive for the described genetic syndromes, the connection between genetics and behavior should be viewed through probabilistic dimension. The probabilistic concept takes into consideration the possibility of intra-syndrome variability in the occurrence, intensity and time onset of behavioral characteristics, at which the higher variability the lower is the specificity of the genetic syndrome. Identifying the specific pattern of behavior can be most important for the process of early diagnosis and prognosis. In addition, having knowledge about behavioral phenotype can be a landmark in

Interpretations of probability

CERN Document Server

Khrennikov, Andrei

2009-01-01

This is the first fundamental book devoted to non-Kolmogorov probability models. It provides a mathematical theory of negative probabilities, with numerous applications to quantum physics, information theory, complexity, biology and psychology. The book also presents an interesting model of cognitive information reality with flows of information probabilities, describing the process of thinking, social, and psychological phenomena.

A Case with Probable Herpes Simplex Encephalitis Characterized by Specific Emotional and Behavioral Disorders and Gogi (Word-Meaning Aphasia-Like Syndrome with Neologism and Neologistic Kanji Processing

Directory of Open Access Journals (Sweden)

I. Jibiki

1992-01-01

Full Text Available A right-handed male patient with probable herpes simplex encephalitis is presented because of the rarity of the clinicial picture. Brain X-ray CT scans showed lesions located in the bilateral fronto-temporal regions primarily involving the left lower temporal lobe. The clinical picture following the acute phase of the disease was characterized by specific emotional and behavioral disorders, i.e. oral tendency, hyperactivity, thoughtless talkativeness, random speech and exhilaration, which were partly compatible with the Klüver-Bucy syndrome. Furthermore, this case was characterized by Gogi (word-meaning aphasia-like transcortical sensory aphasia and neologism produced saliently when naming objects and peculiar neologistic kanji processing in writing to dictation and oral reading. Both the neologism and neologistic kanji processing varied in quantity in parallel with the specific emotional and behavioral disorders. The relationships of these clinical features to lesional sites demonstrated by X-ray CT are discussed.

Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour

Science.gov (United States)

Scott, R H; Stiller, C A; Walker, L; Rahman, N

2006-01-01

Wilms tumour has been reported in association with over 50 different clinical conditions and several abnormal constitutional karyotypes. Conclusive evidence of an increased risk of Wilms tumour exists for only a minority of these conditions, including WT1 associated syndromes, familial Wilms tumour, and certain overgrowth conditions such as Beckwith‐Wiedemann syndrome. In many reported conditions the rare co‐occurrence of Wilms tumour is probably due to chance. However, for several conditions the available evidence cannot either confirm or exclude an increased risk, usually because of the rarity of the syndrome. In addition, emerging evidence suggests that an increased risk of Wilms tumour occurs only in a subset of individuals for some syndromes. The complex clinical and molecular heterogeneity of disorders associated with Wilms tumour, together with the apparent absence of functional links between most of the known predisposition genes, suggests that abrogation of a variety of pathways can promote Wilms tumorigenesis. PMID:16690728

Serum biomarkers are similar in Churg-Strauss syndrome and hypereosinophilic syndrome.

Science.gov (United States)

Khoury, P; Zagallo, P; Talar-Williams, C; Santos, C S; Dinerman, E; Holland, N C; Klion, A D

2012-09-01

Churg-Strauss syndrome (CSS) and hypereosinophilic syndrome (HES) overlap considerably in clinical presentation. A reliable means of distinguishing between these groups of patients is needed, especially in the setting of glucocorticoid therapy. A retrospective chart review of 276 adult subjects referred for evaluation of eosinophilia > 1500/μl was performed, and subjects with a documented secondary cause of eosinophilia or a PDGFR -positive myeloproliferative neoplasm were excluded. The remaining subjects were assessed for the presence of American College of Rheumatology (ACR) criteria. Laboratory and clinical parameters were compared between subjects with biopsy-proven vasculitis (CSS; n = 8), ≥4 ACR criteria (probable CSS; n = 21), HES with asthma and/or sinusitis without other CSS-defining criteria (HESwAS; n = 20), HES without asthma or sinusitis (HES; n = 18), and normal controls (n = 8). Serum biomarkers reported to be associated with CSS were measured using standard techniques. There were no differences between the subjects with definite or probable CSS or HES with respect to age, gender, or maintenance steroid dose. Serum CCL17, IL-8, and eotaxin levels were significantly increased in eosinophilic subjects as compared to normal controls, but were similar between the eosinophilic groups. Serum CCL17 correlated with eosinophil count (P < 0.0001, r = 0.73), but not with prednisone dose. In patients with a history of asthma and sinusitis, distinguishing between ANCA-negative CSS and PDGFR-negative HES is difficult because of significant overlap in clinical presentation and biomarker profiles. Published 2012. This article is a U.S. Government work and is in the public domain in the USA.

Anaesthesia for laparoscopic cholecystectomy in Bartter′s syndrome

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Bala S Bhaskar

2010-01-01

Full Text Available Bartter′s syndrome is a rare inherited anamoly with defect in the thick segment of the ascending limb of the loop of Henle, with reduced reabsorption of potassium. Growth is affected with worsening renal function, hypokalaemia, hypochloraemic metabolic alkalosis, hypocalcemia, hypomagnesemia, increased levels of aldosterone, renin and angiotensin without hypertension and lack of responses to vasopressors. Treatment consists of potassium supplementation along with other medications. We present the case report, probably the first, of a child suffering from Bartter′s syndrome with gall stones posted for laparoscopic cholecystectomy. The pre-operative correction of hypokalemia and successful anaesthetic and fluid and electrolyte management of the patient are discussed.

Congenital rubella syndrome in Haiti

Directory of Open Access Journals (Sweden)

Golden Nancy

2002-01-01

Full Text Available Objective. To determine if there is an unrecognized problem of congenital rubella syndrome (CRS in Haiti, a country without a national rubella immunization program. Methods. During March 2001 and June 2001, screening physicals were conducted on approximately 80 orphans at three orphanages in Haiti that accept disabled children. Children were classified as probable CRS cases based on established clinical criteria. Photo documentation of findings was obtained whenever possible. Results. Six children met the criteria for probable CRS. Using data from surrounding Caribbean countries and from the United States of America prior to rubella immunization, we estimated that there are between 163 and 440 new cases of CRS per year in Haiti. Conclusions. CRS exists in Haiti, but its presence is generally unrecognized. A national rubella immunization policy should be considered.

Congenital rubella syndrome in Haiti

Directory of Open Access Journals (Sweden)

Nancy Golden

2002-10-01

Full Text Available Objective. To determine if there is an unrecognized problem of congenital rubella syndrome (CRS in Haiti, a country without a national rubella immunization program. Methods. During March 2001 and June 2001, screening physicals were conducted on approximately 80 orphans at three orphanages in Haiti that accept disabled children. Children were classified as probable CRS cases based on established clinical criteria. Photo documentation of findings was obtained whenever possible. Results. Six children met the criteria for probable CRS. Using data from surrounding Caribbean countries and from the United States of America prior to rubella immunization, we estimated that there are between 163 and 440 new cases of CRS per year in Haiti. Conclusions. CRS exists in Haiti, but its presence is generally unrecognized. A national rubella immunization policy should be considered.

Genetic testing to predict sudden cardiac death: current perspectives and future goals

Directory of Open Access Journals (Sweden)

Silvia G. Priori

2014-01-01

Full Text Available It is known that monogenic traits may predispose young and otherwise healthy individuals to die suddenly. Diseases such as Long QT Syndrome, Brugada Syndrome and Arrhythmogenic Right Ventricular Cardiomyopathy are well known causes of arrhythmic death in young individuals. For several years the concept of “genetic predisposition” to sudden cardiac death has been limited to these uncommon diseases. In the last few years clinical data have supported the view that risk of dying suddenly may cluster in families, supporting the hypothesis of a genetic component for sudden cardiac death. In this review I will try to provide an overview of current knowledge about genetics of sudden death. I will approach this topic by discussing first where we stand in the use of genetics for risk stratification and therapy selection in monogenic diseases and I will then move to discuss the contribution of genetics to patient profiling in acquired cardiovascular diseases.

[Correlation of metabolic syndrome components in older Mexican women].

Science.gov (United States)

Ramírez-Arriola, Maria Cleofas; Mendoza-Romo, Margarita Paz; González-Rubio, Marco Vinicio; López-Esqueda, Francisco Javier; Mendoza-Romo, Miguel Angel; Velasco-Chávez, José Fernando

2011-01-01

In woman aged over 60 years, body changes occur and might cause insulin resistance and metabolic syndrome. To determine the relationship between the components of metabolic syndrome, insulin resistance and body mass index in women over 60 years, attended at the Geriatric Services in the Dr. Ignacio Morones Prieto Hospital in San Luis Potosi, Mexico. We performed an observational, descriptive and transversal study with non-probability sampling, selecting 61 women aged 60 years attended from 2006 to 2008, who have measured the body mass index (BMI), insulin resistance and homeostasis model (HOMA2), and identifying the components of metabolic syndrome according to the criteria of the World Health Organization. We used descriptive and inferential statistics with r Pearson and Chi Square. The mean age was 68 years. The average HOMA2 were 1.4 and 75 percentile 1.9. The prevalence of metabolic syndrome was present in 23%. The association test with a p metabolic syndrome dysglucemia and obesity, but not for other components of metabolic syndrome. The triglycerides level correlated with insulin resistance (r = 0.325, p = 0.011), insulin resistance with glucose (r = 0.535, p = 0.000) and insulin resistance with BMI (r = 0.282, p = 0.28). It is important to properly define the components for the presence of metabolic syndrome in older women due to not all who qualify as obese have metabolic syndrome, and neither all the metabolic syndrome are associated with insulin resistance. The single alteration of one of the components of metabolic syndrome is not sufficient to cause insulin resistance.

Improving Ranking Using Quantum Probability

OpenAIRE

Melucci, Massimo

2011-01-01

The paper shows that ranking information units by quantum probability differs from ranking them by classical probability provided the same data used for parameter estimation. As probability of detection (also known as recall or power) and probability of false alarm (also known as fallout or size) measure the quality of ranking, we point out and show that ranking by quantum probability yields higher probability of detection than ranking by classical probability provided a given probability of ...

Enteral Feeding in Abdominal Compartment Syndrome

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Ye. V Grigoryev

2009-01-01

Full Text Available Objective: to substantiate the choice of a gastrointestinal tract (GIT function support regimen as a mode for correction of the abdominal compartment syndrome (ACS. Subjects and methods. Forty-three patients with different causes of inadequate GIT function of various origin and ACS (disseminated peritonitis (45%, pancreatitis (24%, and severe concomitant injury (31% were examined. Group 1 (control received complete parenteral nutritional feeding (n=23; APACHE II scores, 21±4; calculated probability of fatal outcome, 33.5%. In Group II (study, complete parenteral feeding in the first 24 hours after stabilization was supplemented with GIT function support with Pepsisorb (Nutricia in doses of 500, 1000, and 1500 ml on days 1, 2, and 3, respectively (n=20; APACHE II scores, 20±6; calculated probability of fatal outcome, 37.1%. During early enteral nutritional support, the SOFA score was significantly less than that in Group 1 on days 2—3; the oxygenation index significantly increased on day 3; the value of intra-abdominal hypertension decreased to the control values. The positive effect of the GIT function support regimen on regression of the multiple organ dysfunction syndrome (MODS was confirmed by the lowered levels of biological markers (von Willebrand factor (WF and endothelin-1 as markers of endothelial damage of MODS. Correlation analysis showed a direct correlation between the markers of endothelial damage and the SOFA scores (r=0.34; p=0.05 for WF and r=0.49;p=0.03 for endothelin. Conclusion. The GIT function support regimen via early enteral alimentation with Peptisorb, which was initiated in the first 24 hours after admission, is able to level off the manifestations of the early stages of the abdominal compartment syndrome, with the acceptable values of oxygen balance and water-electrolyte and osmotic homeostasis being achieved. Key words: abdominal compartment syndrome, nutritional support, biological markers, oxygenation index

[Hand-arm vibration syndrome in caisson miners].

Science.gov (United States)

Kákosy, T; Németh, L; Hazay, B; Posgay, M; Diner, J

1997-07-06

Authors examined 43 caisson-miners with symptoms of the upper extremities because of suspicion of hand-arm vibration syndrome. Also vibration measurements were performed on the pneumatic hammer used by the workers. The acceleration of the vibration exceeded 2.5-3.5 times the maximum allowable level according to the ISO 5349. Symptoms and signs of hand-arm vibration syndrome were found in 39 cases (90.7%). The vascular, peripheral neurological and locomotor system of the upper extremities were affected in similar frequency: 54.8; 51.6 and 51.2%, respectively. The most common angiological alteration was the Raynaud's phenomenon. Neurologically predominated the tunnel syndromes. Among the osteoarticular lesions the degenerative phenomena were the most frequent. In most cases more than one pathological alteration occurred. Fatigue fracture of the spinous process of vertebra D. I. appeared in one single case, degenerative changes of cervical spine in 34 patients (79.1%). The very common occurrence of the locomotor alterations and tunnel syndromes respectively can be explained probably also by the high physical stress required by this profession. The detailed examination of the locomotor system is very important by the periodical screening of the caisson-miners.

In search of the egalitarian syndrome: cultural inertia in Croatia?

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Ivan Burić

2016-12-01

Full Text Available In 1970, Josip Županov presented his Egalitarian Syndrome Theory (EST to account for the country’s suboptimal socioeconomic development. The theory was operationalized only recently (Štulhofer and Burić, 2015, which enabled an assessment of the persistence of egalitarian syndrome, as well as the testing of its hypothesized (negative association with indicators of social development. Using data from a 2015 national probability survey, this study aimed to provide additional validation of the multidimensional measure of the egalitarian syndrome, including age and gender invariance testing, as well as to explore the hypothesized negative association with county-level development indices. The findings support Županov’s theoretical assumptions. Rural vs. urban residence, education and occupation, but not participants’ age, were significant predictors of the support for egalitarian syndrome. Significant negative associations were observed between the acceptance of values associated with the egalitarian syndrome and county-level development and competitiveness scores, GDP and early entrepreneurial activity. Although our study was not designed to test the causal relationship between radical egalitarianism and socioeconomic development, the findings suggest that the widespread prevalence of the egalitarian syndrome may be a problem for the country’s socio-economic development.

Calculating the Probability of Returning a Loan with Binary Probability Models

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Julian Vasilev

2014-12-01

Full Text Available The purpose of this article is to give a new approach in calculating the probability of returning a loan. A lot of factors affect the value of the probability. In this article by using statistical and econometric models some influencing factors are proved. The main approach is concerned with applying probit and logit models in loan management institutions. A new aspect of the credit risk analysis is given. Calculating the probability of returning a loan is a difficult task. We assume that specific data fields concerning the contract (month of signing, year of signing, given sum and data fields concerning the borrower of the loan (month of birth, year of birth (age, gender, region, where he/she lives may be independent variables in a binary logistics model with a dependent variable “the probability of returning a loan”. It is proved that the month of signing a contract, the year of signing a contract, the gender and the age of the loan owner do not affect the probability of returning a loan. It is proved that the probability of returning a loan depends on the sum of contract, the remoteness of the loan owner and the month of birth. The probability of returning a loan increases with the increase of the given sum, decreases with the proximity of the customer, increases for people born in the beginning of the year and decreases for people born at the end of the year.

Metabolic Syndrome Risk Profiles Among African American Adolescents

Science.gov (United States)

Fitzpatrick, Stephanie L.; Lai, Betty S.; Brancati, Frederick L.; Golden, Sherita H.; Hill-Briggs, Felicia

2013-01-01

OBJECTIVE Although African American adolescents have the highest prevalence of obesity, they have the lowest prevalence of metabolic syndrome across all definitions used in previous research. To address this paradox, we sought to develop a model of the metabolic syndrome specific to African American adolescents. RESEARCH DESIGN AND METHODS Data from the National Health and Nutrition Examination Survey (2003–2010) of 822 nonpregnant, nondiabetic, African American adolescents (45% girls; aged 12 to 17 years) who underwent physical examinations and fasted at least 8 h were analyzed. We conducted a confirmatory factor analysis to model metabolic syndrome and then used latent profile analysis to identify metabolic syndrome risk groups among African American adolescents. We compared the risk groups on probability of prediabetes. RESULTS The best-fitting metabolic syndrome model consisted of waist circumference, fasting insulin, HDL, and systolic blood pressure. We identified three metabolic syndrome risk groups: low, moderate, and high risk (19% boys; 16% girls). Thirty-five percent of both boys and girls in the high-risk groups had prediabetes, a significantly higher prevalence compared with boys and girls in the low-risk groups. Among adolescents with BMI higher than the 85th percentile, 48 and 36% of boys and girls, respectively, were in the high-risk group. CONCLUSIONS Our findings provide a plausible model of the metabolic syndrome specific to African American adolescents. Based on this model, approximately 19 and 16% of African American boys and girls, respectively, are at high risk for having the metabolic syndrome. PMID:23093663

COMPUTER VISION SYNDROME: A SHORT REVIEW.

OpenAIRE

Sameena; Mohd Inayatullah

2012-01-01

Computers are probably one of the biggest scientific inventions of the modern era, and since then they have become an integral part of our life. The increased usage of computers have lead to variety of ocular symptoms which includ es eye strain, tired eyes, irritation, redness, blurred vision, and diplopia, collectively referred to as Computer Vision Syndrome (CVS). CVS may have a significant impact not only on visual com fort but also occupational productivit...

Cerebral hyperperfusion syndrome after carotid angioplasty

International Nuclear Information System (INIS)

Milosevic, Z.; Surlan, M.; Zvan, B.; Zaletel, M.

2002-01-01

Background. Cerebral hyperperfusion syndrome after carotid endarterectomy is an uncommon but well-defined entity. There are only few reports of ''hyperperfusion injury'' following carotid angioplasty. Case report. We report an unstable arterial hypertension and high-grade carotid stenosis in a 58-year-old, right-handed woman. After a stroke in the territory of middle cerebral artery carotid angioplasty was performed in the patient. Among risk factors, the long lasting arterial hypertension was the most pronounced. Immediately after the procedure, the patient was stable without any additional neurologic deficit. The second day, the patient had an epileptic seizure and CT revealed a small haemorrhage in the left frontal lobe. Conclusions. The combination of a high-grade carotid stenosis and unstable arterial pressure is probably an important prognostic factor in the pathogenesis of hyperperfusion syndrome. (author)

On the Possibility of Assigning Probabilities to Singular Cases, or: Probability Is Subjective Too!

Directory of Open Access Journals (Sweden)

Mark R. Crovelli

2009-06-01

Full Text Available Both Ludwig von Mises and Richard von Mises claimed that numerical probability could not be legitimately applied to singular cases. This paper challenges this aspect of the von Mises brothers’ theory of probability. It is argued that their denial that numerical probability could be applied to singular cases was based solely upon Richard von Mises’ exceptionally restrictive definition of probability. This paper challenges Richard von Mises’ definition of probability by arguing that the definition of probability necessarily depends upon whether the world is governed by time-invariant causal laws. It is argued that if the world is governed by time-invariant causal laws, a subjective definition of probability must be adopted. It is further argued that both the nature of human action and the relative frequency method for calculating numerical probabilities both presuppose that the world is indeed governed by time-invariant causal laws. It is finally argued that the subjective definition of probability undercuts the von Mises claim that numerical probability cannot legitimately be applied to singular, non-replicable cases.

[Prevalence of chronic hyperventilation syndrome in children and teenagers].

Science.gov (United States)

Gridina, I; Bidat, E; Chevallier, B; Stheneur, C

2013-03-01

The aim of this study was to investigate the prevalence of hyperventilation syndrome in the general population of children and teenagers from the Île-de-France region (France). Three hundred children and teenagers (170 girls and 130 boys, aged 1 to17 years) were included in the study. To evaluate the probability of hyperventilation syndrome, we asked the children and teenagers to complete the Hyperventilation Syndrome Ambroise-Paré Enfant (SHAPE) questionnaire. The frequency of occurrence of the signs was evaluated by the child himself or herself with or without parental help. Children and teenagers with a score of 25 or over were considered to have hyperventilation syndrome. Sixty-three out of 300 questionnaires with a score of 25 or over revealed the presence of hyperventilation syndrome: 21% of the population evaluated. Among those surveyed, 42 were girls and 21 boys: 24.7 and 16.2%, respectively. The 280 questionnaires filled out among the non-asthmatics showed that 52 were positive (18.6%), while the positivity rate in the asthma group amounted to 55%. Although the diagnostic criteria for hyperventilation syndrome remains contested, this study shows that the disorder is real and frequent. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

Rethinking childhood adversity in chronic fatigue syndrome.

Science.gov (United States)

Clark, James E; Davidson, Sean L; Maclachlan, Laura; Newton, Julia L; Watson, Stuart

2018-01-01

Background: Previous studies have consistently shown increased rates of childhood adversity in chronic fatigue syndrome (CFS). However, such aetiopathogenic studies of CFS are potentially confounded by co-morbidity and misdiagnosis particularly with depression. Purpose: We examined the relationship between rates of childhood adversity using two complimentary approaches (1) a sample of CFS patients who had no lifetime history of depression and (2) a modelling approach. Methods: Childhood trauma questionnaire (CTQ) administered to a sample of 52 participants with chronic fatigue syndrome and 19 controls who did not meet criteria for a psychiatric disorder (confirmed using the Structured Clinical Interview for DSM-IV). Subsequently, Mediation Analysis (Baye's Rules) was used to establish the risk childhood adversity poses for CFS with and without depression. Results: In a cohort of CFS patients with depression comprehensively excluded, CTQ scores were markedly lower than in all previous studies and, in contrast to these previous studies, not increased compared with healthy controls. Post-hoc analysis showed that CTQ scores correlated with the number of depressive symptoms during the lifetime worst period of low mood. The probability of developing CFS given a history of childhood trauma is 4%, a two-fold increased risk compared to the general population. However, much of this risk is mediated by the concomitant development of major depression. Conclusions: The data suggests that previous studies showing a relationship between childhood adversity and CFS may be attributable to the confounding effects of co-morbid or misdiagnosed depressive disorder. Abbreviations: CFS: Chronic fatigue syndrome; CTQ: Childhood trauma questionnaire; MDD: Major depressive disorder; CA: Childhood adversity; P : Probability.

Functional Analysis of Inappropriate Social Interactions in Students with Asperger's Syndrome

Science.gov (United States)

Roantree, Christina F.; Kennedy, Craig H.

2012-01-01

We analyzed the inappropriate social interactions of 3 students with Asperger's syndrome whose behavior was maintained by social positive reinforcement. We tested whether inappropriate social behavior was sensitive to social positive reinforcement contingencies and whether such contingencies could be reversed to increase the probability of…

Fanconi's syndrome and nephrogenic diabetes insipidus in an adult treated with ifosfamide.

Science.gov (United States)

Ingemi, Amanda I; Bota, Vasile M; Peguero, Anyeri; Charpentier, Margaret

2012-01-01

Fanconi's syndrome is a serious condition characterized by type II proximal renal tubular dysfunction, with urinary loss of glucose, amino acids, phosphate, bicarbonate, and potassium. Ifosfamide-induced Fanconi's syndrome is reported in about 1.4-5% of children being treated for solid tumors, yet only a few cases have been reported in adults. We describe a 54-year-old man who came to the hospital with symptoms of neutropenic fever 4 days after his fourth cycle of ifosfamide and doxorubicin treatment for recurrent sarcoma with metastases to the lung. During admission, he was noted to have severe renal tubular dysfunction; ifosfamide-induced nephrogenic diabetes insipidus and Fanconi's syndrome were suspected. He received supportive therapy that resulted in incomplete resolution of signs and symptoms. The patient was discharged after a 5-day hospital stay when his white blood cell count increased from 0.1-2.5 × 10(3) /mm(3) and his fever had resolved. Use of the Naranjo adverse drug reaction probability scale indicated a probable relationship (score of 7) between the patient's development of diabetes insipidus and Fanconi's syndrome and his use of ifosfamide. This dual diagnosis of diabetes insipidus and Fanconi's syndrome in an adult makes this case unusual, as well as therapeutically challenging. We conducted a review of the existing literature regarding ifosfamide-induced Fanconi's syndrome and describe the proposed mechanisms and therapeutic options. This case suggests that patients treated with ifosfamide should be monitored closely for renal function to identify, and perhaps prevent, these rare adverse events. Preliminary animal models show promise for adding N-acetylcysteine to ifosfamide treatment, but more research is necessary before using this drug as a therapeutic option. © 2012 Pharmacotherapy Publications, Inc.

Friable but treatable: coronary artery dissections in Ehlers-Danlos syndrome.

Science.gov (United States)

Zago, Alexandre C; Matte, Bruno S

2013-01-01

Vascular Ehlers-Danlos syndrome is a rare connective tissue disorder associated with arterial dissection or rupture. Percutaneous coronary intervention (PCI) is often critical in patients with this syndrome because their coronary arteries are prone to dissection, enhancing the risk of stent borders dissection when conventional stent deployment pressures are used. Coronary artery bypass graft (CABG) treatment for these patients may also raise concerns because the left internal mammary artery is probably friable. Therefore, coronary artery revascularization in vascular Ehlers-Danlos syndrome either using PCI or CABG is challenging due to the arteries friability. A small number of cases have been published describing the friability of the vessels and associated complications; nevertheless, the optimum treatment remains unclear. We report the case of a 54-year-old woman treated successfully with PCI and CABG in two different acute coronary syndrome episodes, in which specific technical issues related to both procedures were decisive. Copyright © 2011 Wiley Periodicals, Inc.

Orbital phlebography in patients with Tolosa-Hunt's syndrome in comparison with normal subjects

International Nuclear Information System (INIS)

Hannerz, J.; Ericson, K.; Bergstrand, G.; Karolinska Sjukhuset, Stockholm

1984-01-01

Orbital phlebography has been reported to be pathologic in some patients with Tolosa-Hunt's syndrome (recurrent painful ophthalmoplegia). A systematic study of the phlebographic findings in Tolosa-Hunt's syndrome in comparison with a normal material seems not to have been performed. In this investigation, orbital phlebography was performed in 19 patients with Tolosa-Hunt's syndrome and in a reference group of 23 persons without the disease. In 13 of 19 patients (68%) with Tolosa-Hunt's syndrome, the phlebography was pathologic (narrowing or occlusion of particularly the third segment of the superior ophthalmic vein, partial occlusion of the cavernous sinus). Orbital phlebography was normal in all but one of the subjects in the reference group. The medical history of this subject in retrospect revealed symptoms other than painful ophthalmoplegia commonly found in patients with Tolosa-Hunt's syndrome, suggesting that he suffered from a variant of the disease causing the syndrome. In one patient with recurrent painful ophthalmoplegia a biopsy from an eye muscle showed venous vasculitis, probably indicating the basic pathology behind the phlebographic changes in patients with Tolosa-Hunt's syndrome. (orig.)

Probability in physics

CERN Document Server

Hemmo, Meir

2012-01-01

What is the role and meaning of probability in physical theory, in particular in two of the most successful theories of our age, quantum physics and statistical mechanics? Laws once conceived as universal and deterministic, such as Newton‘s laws of motion, or the second law of thermodynamics, are replaced in these theories by inherently probabilistic laws. This collection of essays by some of the world‘s foremost experts presents an in-depth analysis of the meaning of probability in contemporary physics. Among the questions addressed are: How are probabilities defined? Are they objective or subjective? What is their  explanatory value? What are the differences between quantum and classical probabilities? The result is an informative and thought-provoking book for the scientifically inquisitive. 

Probable late lyme disease: a variant manifestation of untreated Borrelia burgdorferi infection

Science.gov (United States)

2012-01-01

Background Lyme disease, a bacterial infection with the tick-borne spirochete Borrelia burgdorferi, can cause early and late manifestations. The category of probable Lyme disease was recently added to the CDC surveillance case definition to describe patients with serologic evidence of exposure and physician-diagnosed disease in the absence of objective signs. We present a retrospective case series of 13 untreated patients with persistent symptoms of greater than 12 weeks duration who meet these criteria and suggest a label of ‘probable late Lyme disease’ for this presentation. Methods The sample for this analysis draws from a retrospective chart review of consecutive, adult patients presenting between August 2002 and August 2007 to the author (JA), an infectious disease specialist. Patients were included in the analysis if their current illness had lasted greater than or equal to 12 weeks duration at the time of evaluation. Results Probable late Lyme patients with positive IgG serology but no history of previous physician-documented Lyme disease or appropriate Lyme treatment were found to represent 6% of our heterogeneous sample presenting with ≥ 12 weeks of symptom duration. Patients experienced a range of symptoms including fatigue, widespread pain, and cognitive complaints. Approximately one-third of this subset reported a patient-observed rash at illness onset, with a similar proportion having been exposed to non-recommended antibiotics or glucocorticosteroid treatment for their initial disease. A clinically significant response to antibiotics treatment was noted in the majority of patients with probable late Lyme disease, although post-treatment symptom recurrence was common. Conclusions We suggest that patients with probable late Lyme disease share features with both confirmed late Lyme disease and post-treatment Lyme disease syndrome. Physicians should consider the recent inclusion of probable Lyme disease in the CDC Lyme disease surveillance

[Pseudomeigs syndrome in a patient with Krukenberg's tumor].

Science.gov (United States)

Bayod, M J Herráiz; Carlón, M Elorz; Idoate, M A

2007-01-01

We report the case of a fiftyone-year-old woman with a past medical history of Linfoma no Hodking and a gastric adenocarcinoma with signet ring cells. She came to our institution with a twenty month history of dysnea secondary to pleural effussion, bilateral lower extremity edema and probably had ascitis. On CT and US two bilateral pelvic masses were found and biopsied. The anatomopathological analysis showed bilateral ovarian implants from signet ring cell adenocarcinoma (Krukenberg tumor). This patient developed a PseudoMeigs syndrome consisting on malignant ovarian tumor asociated with ascitis and pleural effusion without malignant cells. Oncological patients who present with ascitis and benign pleural effusion, the diagnosis of PseudoMeigs syndrome should be considered.

Low doses of terlipressin and albumin in the type I hepatorenal syndrome

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Davide Pulvirenti

2013-05-01

Full Text Available BACKGROUND Hepatorenal syndrome is a pre-renal like dysfunction that generally onsets in cirrhotic patients presenting ascites. MATERIALS AND METHODS We investigated the improvement of renal function in subjects with hepatorenal syndrome after terlipressin administration and the survival times after this treatment. 30 patients affected by cirrhosis, with diagnosis of type I hepatorenal syndrome were treated with intravenous terlipressin plus albumin (group A or with albumin alone (group B. Liver function, renal function, sodium plasma level and plasma renin activity were monitored. RESULTS Patients of group A showed a significant improvement (p < 0.001 of renal function valued by creatinine rate compared with the results obtained in group B. The probability of survival was higher in the group A (p < 0.0001. CONCLUSIONS Our results seem to confirm that the administration of terlipressin plus albumin improves renal function in patients with cirrhosis and type I hepatorenal syndrome and that a reversal of hepatorenal syndrome is strongly associated with an improved survival.

Burning mouth syndrome

Directory of Open Access Journals (Sweden)

Sudha Jimson

2015-01-01

Full Text Available Burning mouth syndrome (BMS is a complex disorder that is characterized by warm or burning sensation in the oral mucosa without changes on physical examination. It occurs more commonly in middle-aged and elderly women and often affects the tip of the tongue, lateral borders, lips, hard and soft palate. This condition is probably of multi-factorial origin, often idiopathic, and its etiopathogensis is unknown. BMS can be classified into two clinical forms namely primary and secondary BMS. As a result, a multidisciplinary approach is required for better control of the symptoms. In addition, psychotherapy and behavioral feedback may also help eliminate the BMS symptoms.

Lacrimal gland accumulation of 67Ga-citrate in patients with Sjoegren's syndrome

International Nuclear Information System (INIS)

Tanabe, M.; Tamai, T.; Satoh, K.; Kojima, K.; Hasegawa, E.; Matsuo, N.; Satoh, C.; Murakami, T.H.

1984-01-01

The extent of 67 Ga accumulation in the two lacrimal glands in patients with keratoconjunctivitis sicca (KCS) of Sjoegren's syndrome was studied. Of the two main groups one consisted of 69 subjects without ophthalmic complaints (control group), the other consisted of 26 patients with KCS of Sjoegren's syndome. Of the 26 patients with KCS, 7 has been diagnosed as probable KCS (probable sub-group) and the other 19 had been diagnosed definite KCS (definite sub-group). About 3 mCi (111 MBq) 67 Ga-citrate was injected IV into each subject and this was followed by scintigraphy at 24, 48, and 72 h after the injection of 67 Ga. A positive finding in the lacrimal gland was noted in 64 of 69 subjects (92.7%) in the control group and in 7 of 7 patients (100%) with probable KCS. Three of 19 patients with definite KCS (15.7%) showed positive findings under scintigraphy. When the scintigraphic finding in the lacrimal gland is not positive in patients with suspected KCS of Sjoegren's syndrome, they can then be diagnosed with little risk as definite KCS cases. Shirmer's test was performed on subjects in the probable and definite groups. There was statistical significance between the positive and equivocal or negative scintigraphic finding and Schirmer's values. These results suggest a correlation between gallium accumulation in the lacrimal gland and the tear production. (orig.)

[Diagnostics and treatment of Wernicke-Korsakoff syndrome patients with an alcohol abuse].

Science.gov (United States)

Nilsson, Maria; Sonne, Charlotte

2013-04-01

Wernicke-Korsakoff syndrome is a condition with high morbidity and mortality and occurs as a consequence of thiamine deficiency. Clinical symptoms are often ambiguous and post-mortem examinations show that the syndrome is underdiagnosed and probably undertreated. There is sparse clinical evidence concerning optimal dosage and duration of treatment. This article reviews the current literature and concludes that all patients with a history of alcohol abuse should be treated with high dosage IV thiamine for an extended period of time, albeit further research is needed.

Impact of screening for metabolic syndrome on the evaluation of obese living kidney donors.

Science.gov (United States)

Marcusa, Daniel P; Schaubel, Douglas E; Woodside, Kenneth J; Sung, Randall S

2018-01-01

We report our experience with metabolic syndrome screening for obese living kidney donor candidates to mitigate the long-term risk of CKD. We retrospectively reviewed 814 obese (BMI≥30) and 993 nonobese living kidney donor evaluations over 12 years. Using logistic regression, we explored interactions between social/clinical variables and candidate acceptance before and after policy implementation. Obese donor candidate acceptance decreased after metabolic syndrome screening began (56.3%, 46.3%, p metabolic syndrome, there was no significant change in how age, sex, race, or BMI affected a donor candidate's probability of acceptance. Metabolic syndrome screening is a simple stratification tool for centers with liberal absolute BMI cut-offs to exclude potentially higher-risk obese candidates. Copyright © 2017 Elsevier Inc. All rights reserved.

Philosophical theories of probability

CERN Document Server

Gillies, Donald

2000-01-01

The Twentieth Century has seen a dramatic rise in the use of probability and statistics in almost all fields of research. This has stimulated many new philosophical ideas on probability. Philosophical Theories of Probability is the first book to present a clear, comprehensive and systematic account of these various theories and to explain how they relate to one another. Gillies also offers a distinctive version of the propensity theory of probability, and the intersubjective interpretation, which develops the subjective theory.

Report of seven neurological patients with misidentification syndrome

Directory of Open Access Journals (Sweden)

Edson José Amâncio

2004-12-01

Full Text Available Objective: To present clinical, neuropsychological and laboratorydata on 7 patients with misidentification syndrome and to discussits possible etiologies and pathophysiology. Methods: Sevenpatients presenting misidentification syndrome, 6 female and 1male, aged 64-78 years were studied. All had a brain diseasediagnosed by clinical and laboratory data. All patients weresubmitted to general clinical examination, neurological andneuropsychological examinations, and brain magnetic resonanceimaging. Results: All patients were capable to recognizephotographs of relatives or famous persons. They presented goodvisual acuity that allowed them reading texts with small print andpreserved visual field. The etiologies of brain lesions were ischemicstroke, left temporal lobe tumor, idiopathic hydrocephalus in elderlypatients, Parkinson’s disease and probable Alzheimer’s disease.None presented enough cognitive disorders to characterize seniledementia. Conclusion: Misidentification syndromes are notnecessarily related to one single psychogenic etiology; on thecontrary, many organic causes may be related with the clinicalpicture. Most patients improved when submitted to treatmentwith typical or atypical neuroleptic drugs.

[Pregnancy in the context of general adaptation syndrome].

Science.gov (United States)

Gur'ianov, V A; Pyregov, A V; Tolmachev, G N; Volodin, A V

2007-01-01

Based on their own findings and the data available in the literature on pregnancy including that complicated by gestosis, the authors consider these conditions in the context of Selye's general adaptation syndrome. They identify its basic links (the autonomic nervous and cardiovascular systems) the function of which is affected by all the physiological and pathophysiological processes involved in its development. There is a high likelihood of baseline impaired adaption processes in these links, which may lead to an inability to accommodate (dysadaptation) by the moment of delivery. The paper gives the current interpretation of functional disorders, called Zangemeister'a triad in 1913, from the present-day points of view of the evaluation of pregnancy as the systemic inflammatory response syndrome and, probably, adaptation disease. Based on the results of analyzing the data available in the literature, the authors indicate physiologically the basic trends in the modulation of impaired development processes of the general adaptation syndrome towards the completion of pregnancy and surgical delivery.

Diagnosis of shoulder impingement syndrome

International Nuclear Information System (INIS)

Hodler, J.

1996-01-01

This article reviews the pathogenesis and clinical and imaging findings in shoulder impingement syndrome. Different stages of impingement syndrome are described. Stage I relates to edema and hemorrhage of the supraspinatus tendon. Stage II is characterized by bursal inflammation and fibrosis, as well as tendinopathy. In stage III there is a tear of the rotator cuff. Clinical signs many overlap. Moreover, calcifying tendinitis, fractures and pain originating from the cervical spine may mimic shoulder impingement syndrome. Imaging is important for the exact diagnosis. Standard radiographs are the basis of imaging in shoulder impingement syndrome. They may demonstrate subchondral sclerosis of the major tuberosity, subacromial spurs, and form anomalies of the acromion. They are also important in the differential diagnosis of shoulder impingement syndrome and demonstrate calcifying tendinitis, fractures and neoplasm. Ultrasonography has found acceptance as a screening tool and even as a final diagnostic method by many authors. However, there is a high interobserver variability in the demonstration of rotator cuff tears. Its usefulness has therefore been questioned. MR imaging is probably the method of choice in the evaluation of the rotator cuff and surrounding structures. Several investigations have demonstrated that differentiation of early findings, such as tendinopathy versus partial tears, may be difficult with MR imaging. However, reproducibility for fullthickness tears appears to be higher than for sonography. Moreover, specificity appears to be superior to sonography. MR arthrography is not universally accepted. However, it allows for more exact differentiation of discrete findings and may be indicated in preoperative planning. Standard arthrography and CT have a limited role in the current assessment of the rotator cuff. (orig.) [de

Structural Pituitary Abnormalities Associated With CHARGE Syndrome

Science.gov (United States)

Gregory, Louise C.; Gevers, Evelien F.; Baker, Joanne; Kasia, Tessa; Chong, Kling; Josifova, Dragana J.; Caimari, Maria; Bilan, Frederic; McCabe, Mark J.

2013-01-01

Introduction: CHARGE syndrome is a multisystem disorder that, in addition to Kallmann syndrome/isolated hypogonadotrophic hypogonadism, has been associated with anterior pituitary hypoplasia (APH). However, structural abnormalities such as an ectopic posterior pituitary (EPP) have not yet been described in such patients. Objective: The aims of the study were: 1) to describe the association between CHARGE syndrome and a structurally abnormal pituitary gland; and 2) to investigate whether CHD7 variants, which are identified in 65% of CHARGE patients, are common in septo-optic dysplasia /hypopituitarism. Methods: We describe 2 patients with features of CHARGE and EPP. CHD7 was sequenced in these and other patients with septo-optic dysplasia/hypopituitarism. Results: EPP, APH, and GH, TSH, and probable LH/FSH deficiency were present in 1 patient, and EPP and APH with GH, TSH, LH/FSH, and ACTH deficiency were present in another patient, both of whom had features of CHARGE syndrome. Both had variations in CHD7 that were novel and undetected in control cohorts or in the international database of CHARGE patients, but were also present in their unaffected mothers. No CHD7 variants were detected in the patients with septo-optic dysplasia/hypopituitarism without additional CHARGE features. Conclusion: We report a novel association between CHARGE syndrome and structural abnormalities of the pituitary gland in 2 patients with variations in CHD7 that are of unknown significance. However, CHD7 mutations are an uncommon cause of septo-optic dysplasia or hypopituitarism. Our data suggest the need for evaluation of pituitary function/anatomy in patients with CHARGE syndrome. PMID:23526466

Probability for statisticians

CERN Document Server

Shorack, Galen R

2017-01-01

This 2nd edition textbook offers a rigorous introduction to measure theoretic probability with particular attention to topics of interest to mathematical statisticians—a textbook for courses in probability for students in mathematical statistics. It is recommended to anyone interested in the probability underlying modern statistics, providing a solid grounding in the probabilistic tools and techniques necessary to do theoretical research in statistics. For the teaching of probability theory to post graduate statistics students, this is one of the most attractive books available. Of particular interest is a presentation of the major central limit theorems via Stein's method either prior to or alternative to a characteristic function presentation. Additionally, there is considerable emphasis placed on the quantile function as well as the distribution function. The bootstrap and trimming are both presented. Martingale coverage includes coverage of censored data martingales. The text includes measure theoretic...

A brief introduction to probability.

Science.gov (United States)

Di Paola, Gioacchino; Bertani, Alessandro; De Monte, Lavinia; Tuzzolino, Fabio

2018-02-01

The theory of probability has been debated for centuries: back in 1600, French mathematics used the rules of probability to place and win bets. Subsequently, the knowledge of probability has significantly evolved and is now an essential tool for statistics. In this paper, the basic theoretical principles of probability will be reviewed, with the aim of facilitating the comprehension of statistical inference. After a brief general introduction on probability, we will review the concept of the "probability distribution" that is a function providing the probabilities of occurrence of different possible outcomes of a categorical or continuous variable. Specific attention will be focused on normal distribution that is the most relevant distribution applied to statistical analysis.

Choice probability generating functions

DEFF Research Database (Denmark)

Fosgerau, Mogens; McFadden, Daniel; Bierlaire, Michel

2013-01-01

This paper considers discrete choice, with choice probabilities coming from maximization of preferences from a random utility field perturbed by additive location shifters (ARUM). Any ARUM can be characterized by a choice-probability generating function (CPGF) whose gradient gives the choice...... probabilities, and every CPGF is consistent with an ARUM. We relate CPGF to multivariate extreme value distributions, and review and extend methods for constructing CPGF for applications. The choice probabilities of any ARUM may be approximated by a cross-nested logit model. The results for ARUM are extended...

Probability of satellite collision

Science.gov (United States)

Mccarter, J. W.

1972-01-01

A method is presented for computing the probability of a collision between a particular artificial earth satellite and any one of the total population of earth satellites. The collision hazard incurred by the proposed modular Space Station is assessed using the technique presented. The results of a parametric study to determine what type of satellite orbits produce the greatest contribution to the total collision probability are presented. Collision probability for the Space Station is given as a function of Space Station altitude and inclination. Collision probability was also parameterized over miss distance and mission duration.

Real analysis and probability

CERN Document Server

Ash, Robert B; Lukacs, E

1972-01-01

Real Analysis and Probability provides the background in real analysis needed for the study of probability. Topics covered range from measure and integration theory to functional analysis and basic concepts of probability. The interplay between measure theory and topology is also discussed, along with conditional probability and expectation, the central limit theorem, and strong laws of large numbers with respect to martingale theory.Comprised of eight chapters, this volume begins with an overview of the basic concepts of the theory of measure and integration, followed by a presentation of var

Probability and Measure

CERN Document Server

Billingsley, Patrick

2012-01-01

Praise for the Third Edition "It is, as far as I'm concerned, among the best books in math ever written....if you are a mathematician and want to have the top reference in probability, this is it." (Amazon.com, January 2006) A complete and comprehensive classic in probability and measure theory Probability and Measure, Anniversary Edition by Patrick Billingsley celebrates the achievements and advancements that have made this book a classic in its field for the past 35 years. Now re-issued in a new style and format, but with the reliable content that the third edition was revered for, this

Congenital rubella syndrome in Haiti (Short communication).

Science.gov (United States)

Golden, Nancy; Kempker, Russell; Khator, Parul; Summerlee, Robert; Fournier, Arthur

2002-10-01

To determine if there is an unrecognized problem of congenital rubella syndrome (CRS) in Haiti, a country without a national rubella immunization program. During March 2001 and June 2001, screening physicals were conducted on approximately 80 orphans at three orphanages in Haiti that accept disabled children. Children were classified as probable CRS cases based on established clinical criteria. Photo documentation of findings was obtained whenever possible. Six children met the criteria for probable CRS. Using data from surrounding Caribbean countries and from the United States of America prior to rubella immunization, we estimated that there are between 163 and 440 new cases of CRS per year in Haiti. CRS exists in Haiti, but its presence is generally unrecognized. A national rubella immunization policy should be considered.

Experimental Probability in Elementary School

Science.gov (United States)

Andrew, Lane

2009-01-01

Concepts in probability can be more readily understood if students are first exposed to probability via experiment. Performing probability experiments encourages students to develop understandings of probability grounded in real events, as opposed to merely computing answers based on formulae.

Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.

Directory of Open Access Journals (Sweden)

Hidekane Yoshimura

Full Text Available Usher syndrome is an autosomal recessive disorder manifesting hearing loss, retinitis pigmentosa and vestibular dysfunction, and having three clinical subtypes. Usher syndrome type 1 is the most severe subtype due to its profound hearing loss, lack of vestibular responses, and retinitis pigmentosa that appears in prepuberty. Six of the corresponding genes have been identified, making early diagnosis through DNA testing possible, with many immediate and several long-term advantages for patients and their families. However, the conventional genetic techniques, such as direct sequence analysis, are both time-consuming and expensive. Targeted exon sequencing of selected genes using the massively parallel DNA sequencing technology will potentially enable us to systematically tackle previously intractable monogenic disorders and improve molecular diagnosis. Using this technique combined with direct sequence analysis, we screened 17 unrelated Usher syndrome type 1 patients and detected probable pathogenic variants in the 16 of them (94.1% who carried at least one mutation. Seven patients had the MYO7A mutation (41.2%, which is the most common type in Japanese. Most of the mutations were detected by only the massively parallel DNA sequencing. We report here four patients, who had probable pathogenic mutations in two different Usher syndrome type 1 genes, and one case of MYO7A/PCDH15 digenic inheritance. This is the first report of Usher syndrome mutation analysis using massively parallel DNA sequencing and the frequency of Usher syndrome type 1 genes in Japanese. Mutation screening using this technique has the power to quickly identify mutations of many causative genes while maintaining cost-benefit performance. In addition, the simultaneous mutation analysis of large numbers of genes is useful for detecting mutations in different genes that are possibly disease modifiers or of digenic inheritance.

Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.

Science.gov (United States)

Yoshimura, Hidekane; Iwasaki, Satoshi; Nishio, Shin-Ya; Kumakawa, Kozo; Tono, Tetsuya; Kobayashi, Yumiko; Sato, Hiroaki; Nagai, Kyoko; Ishikawa, Kotaro; Ikezono, Tetsuo; Naito, Yasushi; Fukushima, Kunihiro; Oshikawa, Chie; Kimitsuki, Takashi; Nakanishi, Hiroshi; Usami, Shin-Ichi

2014-01-01

Usher syndrome is an autosomal recessive disorder manifesting hearing loss, retinitis pigmentosa and vestibular dysfunction, and having three clinical subtypes. Usher syndrome type 1 is the most severe subtype due to its profound hearing loss, lack of vestibular responses, and retinitis pigmentosa that appears in prepuberty. Six of the corresponding genes have been identified, making early diagnosis through DNA testing possible, with many immediate and several long-term advantages for patients and their families. However, the conventional genetic techniques, such as direct sequence analysis, are both time-consuming and expensive. Targeted exon sequencing of selected genes using the massively parallel DNA sequencing technology will potentially enable us to systematically tackle previously intractable monogenic disorders and improve molecular diagnosis. Using this technique combined with direct sequence analysis, we screened 17 unrelated Usher syndrome type 1 patients and detected probable pathogenic variants in the 16 of them (94.1%) who carried at least one mutation. Seven patients had the MYO7A mutation (41.2%), which is the most common type in Japanese. Most of the mutations were detected by only the massively parallel DNA sequencing. We report here four patients, who had probable pathogenic mutations in two different Usher syndrome type 1 genes, and one case of MYO7A/PCDH15 digenic inheritance. This is the first report of Usher syndrome mutation analysis using massively parallel DNA sequencing and the frequency of Usher syndrome type 1 genes in Japanese. Mutation screening using this technique has the power to quickly identify mutations of many causative genes while maintaining cost-benefit performance. In addition, the simultaneous mutation analysis of large numbers of genes is useful for detecting mutations in different genes that are possibly disease modifiers or of digenic inheritance.

[Severe metabolic alkalosis following hypokalemia from a paraneoplastic Cushing syndrome].

Science.gov (United States)

Dubé, L; Daenen, S; Kouatchet, A; Soltner, C; Alquier, P

2001-12-01

Metabolic alkalosis is frequently observed in critically ill patients. Etiologies are numerous but endocrinal causes are rare. We report a case of a patient with severe respiratory insufficiency, metabolic alkalosis and hypokalemia. The evolution was fatal. Further explorations revealed an ectopic Adrenocorticotropine Hormone syndrome. The initial tumor was probably a small cell lung carcinoma.

An Integrated Soft Computing Approach to Hughes Syndrome Risk Assessment.

Science.gov (United States)

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%).

Probabilities in physics

CERN Document Server

Hartmann, Stephan

2011-01-01

Many results of modern physics--those of quantum mechanics, for instance--come in a probabilistic guise. But what do probabilistic statements in physics mean? Are probabilities matters of objective fact and part of the furniture of the world, as objectivists think? Or do they only express ignorance or belief, as Bayesians suggest? And how are probabilistic hypotheses justified and supported by empirical evidence? Finally, what does the probabilistic nature of physics imply for our understanding of the world? This volume is the first to provide a philosophical appraisal of probabilities in all of physics. Its main aim is to make sense of probabilistic statements as they occur in the various physical theories and models and to provide a plausible epistemology and metaphysics of probabilities. The essays collected here consider statistical physics, probabilistic modelling, and quantum mechanics, and critically assess the merits and disadvantages of objectivist and subjectivist views of probabilities in these fie...

Probability an introduction

CERN Document Server

Grimmett, Geoffrey

2014-01-01

Probability is an area of mathematics of tremendous contemporary importance across all aspects of human endeavour. This book is a compact account of the basic features of probability and random processes at the level of first and second year mathematics undergraduates and Masters' students in cognate fields. It is suitable for a first course in probability, plus a follow-up course in random processes including Markov chains. A special feature is the authors' attention to rigorous mathematics: not everything is rigorous, but the need for rigour is explained at difficult junctures. The text is enriched by simple exercises, together with problems (with very brief hints) many of which are taken from final examinations at Cambridge and Oxford. The first eight chapters form a course in basic probability, being an account of events, random variables, and distributions - discrete and continuous random variables are treated separately - together with simple versions of the law of large numbers and the central limit th...

Evaluation of nuclear power plant component failure probability and core damage probability using simplified PSA model

International Nuclear Information System (INIS)

Shimada, Yoshio

2000-01-01

It is anticipated that the change of frequency of surveillance tests, preventive maintenance or parts replacement of safety related components may cause the change of component failure probability and result in the change of core damage probability. It is also anticipated that the change is different depending on the initiating event frequency or the component types. This study assessed the change of core damage probability using simplified PSA model capable of calculating core damage probability in a short time period, which is developed by the US NRC to process accident sequence precursors, when various component's failure probability is changed between 0 and 1, or Japanese or American initiating event frequency data are used. As a result of the analysis, (1) It was clarified that frequency of surveillance test, preventive maintenance or parts replacement of motor driven pumps (high pressure injection pumps, residual heat removal pumps, auxiliary feedwater pumps) should be carefully changed, since the core damage probability's change is large, when the base failure probability changes toward increasing direction. (2) Core damage probability change is insensitive to surveillance test frequency change, since the core damage probability change is small, when motor operated valves and turbine driven auxiliary feed water pump failure probability changes around one figure. (3) Core damage probability change is small, when Japanese failure probability data are applied to emergency diesel generator, even if failure probability changes one figure from the base value. On the other hand, when American failure probability data is applied, core damage probability increase is large, even if failure probability changes toward increasing direction. Therefore, when Japanese failure probability data is applied, core damage probability change is insensitive to surveillance tests frequency change etc. (author)

Antiphospholipid syndrome: A case study

International Nuclear Information System (INIS)

Davies, T.

1998-01-01

Full text: A forty-two-year-old male presented to the Royal Adelaide Hospital with symptoms of increasing shortness of breath, swelling in both ankles, petechial rash and blood in his sputum. Initial investigations showed cardiomegaly, right ventricular hypertrophy, patchy lung infiltrates, a platelet count of 1500 and a clotting time of 60 seconds. A V/Q scan indicated a high probability of pulmonary embolism. Further investigations showed that the patient was positive for lupus anticoagulant and cardiolipin antibodies. A diagnosis of primary antiphospholipid syndrome was made. The patient''s high risk of strokes and hemorrhaging prompted investigation by a 99 mTc-HMPAO brain scan. Further V/Q scans were performed to follow up the initial finding of multiple pulmonary embolism and a R-L shunt study was performed to investigate a left subclavian murmur. The patient was admitted for four weeks and began treatment which included cyclaphosphamide, corticosteroids and plasmaphoresis and was discharged when stable. Over the next six months he was re admitted three times for relapse of antiphospholipid syndrome. On his fourth admission he collapsed and died five hours after admission. Cause of death was due to cardiac arrhythmia secondary to severe right ventricular hypertrophy and dilation. The effects of antiphospholipid syndrome was believed to be responsible for this outcome

Antiphospholipid syndrome: A case study

Energy Technology Data Exchange (ETDEWEB)

Davies, T. [Royal Adelaide Hospital, Adelaide, SA (Australia). Department of Nuclear Medicine

1998-03-01

Full text: A forty-two-year-old male presented to the Royal Adelaide Hospital with symptoms of increasing shortness of breath, swelling in both ankles, petechial rash and blood in his sputum. Initial investigations showed cardiomegaly, right ventricular hypertrophy, patchy lung infiltrates, a platelet count of 1500 and a clotting time of 60 seconds. A V/Q scan indicated a high probability of pulmonary embolism. Further investigations showed that the patient was positive for lupus anticoagulant and cardiolipin antibodies. A diagnosis of primary antiphospholipid syndrome was made. The patient``s high risk of strokes and hemorrhaging prompted investigation by a {sup 99}mTc-HMPAO brain scan. Further V/Q scans were performed to follow up the initial finding of multiple pulmonary embolism and a R-L shunt study was performed to investigate a left subclavian murmur. The patient was admitted for four weeks and began treatment which included cyclaphosphamide, corticosteroids and plasmaphoresis and was discharged when stable. Over the next six months he was re admitted three times for relapse of antiphospholipid syndrome. On his fourth admission he collapsed and died five hours after admission. Cause of death was due to cardiac arrhythmia secondary to severe right ventricular hypertrophy and dilation. The effects of antiphospholipid syndrome was believed to be responsible for this outcome.

Introduction to probability

CERN Document Server

Freund, John E

1993-01-01

Thorough, lucid coverage of permutations and factorials, probabilities and odds, frequency interpretation, mathematical expectation, decision making, postulates of probability, rule of elimination, binomial distribution, geometric distribution, standard deviation, law of large numbers, and much more. Exercises with some solutions. Summary. Bibliography. Includes 42 black-and-white illustrations. 1973 edition.

Neonatal Marfan syndrome: Report of two cases.

Science.gov (United States)

Jurko, Tomas; Jurko, Alexander; Minarik, Milan; Micieta, Vladimir; Tonhajzerova, Ingrid; Kolarovszka, Hana; Zibolen, Mirko

2017-07-01

Marfan syndrome is rarely diagnosed in the neonatal period because of variable expression and age-dependent appearance of clinical signs. The prognosis is usually poor due to high probability of congestive heart failure, mitral and tricuspid regurgitations with suboptimal response to medical therapy and difficulties in surgical management. The authors have studied two cases of Marfan syndrome in the newborn period. Two cases of neonatal Marfan syndrome, one male and one female, were diagnosed by characteristic physical appearance. Both infants had significant cardiovascular abnormalities diagnosed by ultrasonography. Genetic DNA analysis in the second case confirmed the mutations in the fibrillin-1 gene located on chromosome 15q21 which is responsible for the development of Marfan syndrome. The boy died at six weeks of age with signs of rapidly progressive left ventricular failure associated with pneumonia. The second infant was having only mild signs of congestive heart failure and has been treated with beta blockers. At the age of 4 years her symptoms of congestive heart failure had worsened due to progression of mitral and tricuspid insufficiency and development of significant cardiomegaly. Mitral and tricuspid valvuloplasy had to be done at that time. Early diagnosis of Marfan syndrome in the newborn period can allow treatment in the early stages of cardiovascular abnormalities and may improve the prognosis. It also helps to explain to the family the serious health problem of their child.

Probably not future prediction using probability and statistical inference

CERN Document Server

Dworsky, Lawrence N

2008-01-01

An engaging, entertaining, and informative introduction to probability and prediction in our everyday lives Although Probably Not deals with probability and statistics, it is not heavily mathematical and is not filled with complex derivations, proofs, and theoretical problem sets. This book unveils the world of statistics through questions such as what is known based upon the information at hand and what can be expected to happen. While learning essential concepts including "the confidence factor" and "random walks," readers will be entertained and intrigued as they move from chapter to chapter. Moreover, the author provides a foundation of basic principles to guide decision making in almost all facets of life including playing games, developing winning business strategies, and managing personal finances. Much of the book is organized around easy-to-follow examples that address common, everyday issues such as: How travel time is affected by congestion, driving speed, and traffic lights Why different gambling ...

Risk Probabilities

DEFF Research Database (Denmark)

Rojas-Nandayapa, Leonardo

Tail probabilities of sums of heavy-tailed random variables are of a major importance in various branches of Applied Probability, such as Risk Theory, Queueing Theory, Financial Management, and are subject to intense research nowadays. To understand their relevance one just needs to think...... analytic expression for the distribution function of a sum of random variables. The presence of heavy-tailed random variables complicates the problem even more. The objective of this dissertation is to provide better approximations by means of sharp asymptotic expressions and Monte Carlo estimators...

Rivaroxaban vs Warfarin and Risk of Post-Thrombotic Syndrome among Patients with Venous Thromboembolism

DEFF Research Database (Denmark)

Søgaard, Mette; Nielsen, Peter Brønnum; Skjøth, Flemming

2018-01-01

BACKGROUND: The effectiveness of rivaroxaban to reduce post-thrombotic syndrome in patients with venous thromboembolism is largely unknown. We compared rates of post-thrombotic syndrome in patients given rivaroxaban versus warfarin in a cohort of routine clinical care patients with incident venous...... thromboembolism. METHODS: We linked Danish nationwide registries to identify all patients with incident venous thromboembolism who were new users of rivaroxaban or warfarin and compared rates of post-thrombotic syndrome using an inverse probability of treatment weighting approach to account for baseline...... confounding. RESULTS: We identified 19,939 oral anticoagulation naive patients with incident venous thromboembolism treated with warfarin or rivaroxaban (mean age 64 years, 48% females, 45.5% with pulmonary embolism). The propensity-weighted rate of post-thrombotic syndrome at 3 years follow-up was 0...

Cronkhite-Canada Syndrome (CCS)-A Rare Case Report.

Science.gov (United States)

Chakrabarti, Subrata

2015-03-01

Cronkhite-Canada syndrome (CCS) is an extremely rare non-inherited condition characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, hyperpigmentation, weight loss and diarrhoea. The aetiology is probably autoimmune and diagnosis is based on history, physical examination, endoscopic findings of gastrointestinal polyposis, and histology. The disease is very rare; approximately 450 cases of CCS have been reported worldwide. The author reports a case of CCS in an elderly Indian male.

Quantum processes: probability fluxes, transition probabilities in unit time and vacuum vibrations

International Nuclear Information System (INIS)

Oleinik, V.P.; Arepjev, Ju D.

1989-01-01

Transition probabilities in unit time and probability fluxes are compared in studying the elementary quantum processes -the decay of a bound state under the action of time-varying and constant electric fields. It is shown that the difference between these quantities may be considerable, and so the use of transition probabilities W instead of probability fluxes Π, in calculating the particle fluxes, may lead to serious errors. The quantity W represents the rate of change with time of the population of the energy levels relating partly to the real states and partly to the virtual ones, and it cannot be directly measured in experiment. The vacuum background is shown to be continuously distorted when a perturbation acts on a system. Because of this the viewpoint of an observer on the physical properties of real particles continuously varies with time. This fact is not taken into consideration in the conventional theory of quantum transitions based on using the notion of probability amplitude. As a result, the probability amplitudes lose their physical meaning. All the physical information on quantum dynamics of a system is contained in the mean values of physical quantities. The existence of considerable differences between the quantities W and Π permits one in principle to make a choice of the correct theory of quantum transitions on the basis of experimental data. (author)

Generalized peeling skin syndrome: Case report and review of the literature.

Science.gov (United States)

Kharfi, Monia; Khaled, Aida; Ammar, Donia; Ezzine, Nadia; El Fekih, Nadia; Fazaa, Becima; Jaafoura, Hiabib; Kamoun, Mohamed Ridha

2010-03-15

Peeling skin syndrome (PSS) is a rare form of ichthyosis with a probable autosomal recessive inheritance that exhibits superficial, painless, continual, or seasonal cutaneous exfoliation. The syndrome generally appears at birth or in infancy. We report a case of generalized PSS and provide a literature review. A 34-year-old woman reported a lifelong history of generalized and painless peeling of the skin that worsened in summer. Her parents were third degree cousins. Her twin sister and her two cousins presented with the same condition. Physical examination showed widespread superficial sheets of variable size that could be easily removed without bleeding or pain. No underlying erythema was noted. Otherwise, the patient was in good health. Histological findings showed an epidermal cleavage within the stratum corneum. The generalized form of PSS is classified into 3 types, A, B, and C, according to the classification system of Traupe and Mevorah. We have tried to classify the cases of generalized PSS already reported in the literature into one of these three types. Thirteen reported cases probably presented PSS-type A. Sixteen patients are best described as PSS-type B. Two patients exhibit PSS-type C. Fifteen reported patients had an acral form of peeling skin syndrome. The classification of the eleven remaining patients was difficult to determine. Our patient presented clinical and histological features of generalized PSS-type A.

The Marfan Syndrome: Physical Activity Guidelines for Physical Educators, Coaches and Physicians.

Science.gov (United States)

Romeo, Thomas J.

Intended for physical educators, this manual provides guidelines for providing safe and effective physical activity programs for children with Marfan syndrome, a congenital condition involving the connective tissues and the probable cause of sudden death by heart failure of some young competitive athletes in recent cases. The manual includes…

Annular and central heavy pigment deposition on the posterior lens capsule in the pigment dispersion syndrome: pigment deposition on the posterior lens capsule in the pigment dispersion syndrome.

Science.gov (United States)

Turgut, Burak; Türkçüoğlu, Peykan; Deniz, Nurettin; Catak, Onur

2008-12-01

To report annular and central heavy pigment deposition on the posterior lens capsule in a case of pigment dispersion syndrome. Case report. A 36-year-old female with bilateral pigment dispersion syndrome presented with progressive decrease in visual acuity in the right eye over the past 1-2 years. Clinical examination revealed the typical findings of pigment dispersion syndrome including bilateral Krunkenberg spindles, iris transillumination defects, and dense trabecular meshwork pigmentation. Remarkably, annular and central dense pigmentation of the posterior lens capsule was noted in the right eye. Annular pigment deposition on the posterior lens capsule may be a rare finding associated with pigment dispersion syndrome. Such a finding suggests that there may be aqueous flow into the retrolental space in some patients with this condition. The way of central pigmentation is the entrance of aqueous to Berger's space. In our case, it is probable that spontaneous detachment of the anterior hyaloid membrane aided this entrance.

Propensity, Probability, and Quantum Theory

Science.gov (United States)

Ballentine, Leslie E.

2016-08-01

Quantum mechanics and probability theory share one peculiarity. Both have well established mathematical formalisms, yet both are subject to controversy about the meaning and interpretation of their basic concepts. Since probability plays a fundamental role in QM, the conceptual problems of one theory can affect the other. We first classify the interpretations of probability into three major classes: (a) inferential probability, (b) ensemble probability, and (c) propensity. Class (a) is the basis of inductive logic; (b) deals with the frequencies of events in repeatable experiments; (c) describes a form of causality that is weaker than determinism. An important, but neglected, paper by P. Humphreys demonstrated that propensity must differ mathematically, as well as conceptually, from probability, but he did not develop a theory of propensity. Such a theory is developed in this paper. Propensity theory shares many, but not all, of the axioms of probability theory. As a consequence, propensity supports the Law of Large Numbers from probability theory, but does not support Bayes theorem. Although there are particular problems within QM to which any of the classes of probability may be applied, it is argued that the intrinsic quantum probabilities (calculated from a state vector or density matrix) are most naturally interpreted as quantum propensities. This does not alter the familiar statistical interpretation of QM. But the interpretation of quantum states as representing knowledge is untenable. Examples show that a density matrix fails to represent knowledge.

Choice Probability Generating Functions

DEFF Research Database (Denmark)

Fosgerau, Mogens; McFadden, Daniel L; Bierlaire, Michel

This paper considers discrete choice, with choice probabilities coming from maximization of preferences from a random utility field perturbed by additive location shifters (ARUM). Any ARUM can be characterized by a choice-probability generating function (CPGF) whose gradient gives the choice...... probabilities, and every CPGF is consistent with an ARUM. We relate CPGF to multivariate extreme value distributions, and review and extend methods for constructing CPGF for applications....

Prediction and probability in sciences

International Nuclear Information System (INIS)

Klein, E.; Sacquin, Y.

1998-01-01

This book reports the 7 presentations made at the third meeting 'physics and fundamental questions' whose theme was probability and prediction. The concept of probability that was invented to apprehend random phenomena has become an important branch of mathematics and its application range spreads from radioactivity to species evolution via cosmology or the management of very weak risks. The notion of probability is the basis of quantum mechanics and then is bound to the very nature of matter. The 7 topics are: - radioactivity and probability, - statistical and quantum fluctuations, - quantum mechanics as a generalized probability theory, - probability and the irrational efficiency of mathematics, - can we foresee the future of the universe?, - chance, eventuality and necessity in biology, - how to manage weak risks? (A.C.)

[Coexistence of autoimmune polyglandular syndrome type 3 with diabetes insipidus].

Science.gov (United States)

Krysiak, Robert; Okopień, Bogusław

2015-01-01

Autoimmune polyglandular syndromes are conditions characterized by the combination of two or more organ-specific disorders. The underestimation oftheir real frequency probable results from physicians' inadequate knowledge of these clinical entities and sometimes their atypical clinical presentation. Because they comprise a wide spectrum of autoimmune disorders, autoimmune polyglandular syndromes are divided into four types, among which type-3 is the most common one. In this article, we report the case of a young female, initially diagnosed with diabetes mellitus who several years later developed full-blown autoimmune polyglandular syndrome type 3 consisting of autoimmune thyroid disorder and latent autoimmune diabetes in adults.The discussed case suggests that in selected patients diabetes insipidus may coexist with autoimmune endocrinopathies and nonendocrine autoimmunopathies, as well as that in some patients idiopathic diabetes insipidus may be secondary to lymphocytic infiltration and destruction of the hypothalamic supraoptic and paraventricular nuclei and/or the supraoptic-hypophyseal tract

Transient Bone Marrow Edema Syndrome (Case Report

Directory of Open Access Journals (Sweden)

Nilnur Konuralp

2003-09-01

Full Text Available Transient bone marrow edema syndrome (BMES is accepted as a possible cause of acute disabling hip pain. This syndrome is defined as local osteoporosis in hip in radiographies, BME in MRI which can be rarely seen and has a self-limiting course. Although the disease generally has a self-limiting course, surgical treatment by early core decompression of the femoral head has proven effective in rapidly relieving the symptoms. Although BMES is relatively rare and probably underdiagnosed when compared to nontraumatic osteonecrosis, both conditions are associated with known osteonecrosis risk factors in middle aged men and especially with late (thirdhad trimester pregnancy in women. We have reported three cases with BMES that had different etiology and followed up presented the differential diagnosis to nontraumatic avascular osteonecrosis. These three cases were treated in early stage very succesfully.

CHARGE and Kabuki syndromes: a phenotypic and molecular link.

Science.gov (United States)

Schulz, Yvonne; Freese, Luisa; Mänz, Johanna; Zoll, Barbara; Völter, Christiane; Brockmann, Knut; Bögershausen, Nina; Becker, Jutta; Wollnik, Bernd; Pauli, Silke

2014-08-15

CHARGE syndrome is a complex developmental disorder caused by mutations in the chromodomain helicase DNA-binding gene CHD7. Kabuki syndrome, another developmental disorder, is characterized by typical facial features in combination with developmental delay, short stature, prominent digit pads and visceral abnormalities. Mutations in the KMT2D gene, which encodes a H3K4 histone methyltransferase, are the major cause of Kabuki syndrome. Here, we report a patient, who was initially diagnosed with CHARGE syndrome based on the spectrum of inner organ malformations like choanal hypoplasia, heart defect, anal atresia, vision problems and conductive hearing impairment. While sequencing and MLPA analysis of all coding exons of CHD7 revealed no pathogenic mutation, sequence analysis of the KMT2D gene identified the heterozygous de novo nonsense mutation c.5263C > T (p.Gln1755*). Thus, our patient was diagnosed with Kabuki syndrome. By using co-immunoprecipitation, immunohistochemistry and direct yeast two hybrid assays, we could show that, like KMT2D, CHD7 interacts with members of the WAR complex, namely WDR5, ASH2L and RbBP5. We therefore propose that CHD7 and KMT2D function in the same chromatin modification machinery, thus pointing out a mechanistic connection, and presenting a probable explanation for the phenotypic overlap between Kabuki and CHARGE syndromes. © The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

The quantum probability calculus

International Nuclear Information System (INIS)

Jauch, J.M.

1976-01-01

The Wigner anomaly (1932) for the joint distribution of noncompatible observables is an indication that the classical probability calculus is not applicable for quantum probabilities. It should, therefore, be replaced by another, more general calculus, which is specifically adapted to quantal systems. In this article this calculus is exhibited and its mathematical axioms and the definitions of the basic concepts such as probability field, random variable, and expectation values are given. (B.R.H)

Transcriptional analysis of the ribonucleotide reductase genes in shrimp white spot syndrome virus

NARCIS (Netherlands)

Tsai, M.F.; Lo, C.F.; Hulten, van M.C.W.; Tzeng, H.F.; Chou, C.M.; Huang, C.J.; Wang, C.S.

2000-01-01

The causative agent of white spot syndrome (WSS) is a large double-stranded DNA virus, WSSV, which is probably a representative of a new genus, provisionally called Whispovirus. From previously constructed WSSV genomic libraries of a Taiwan WSSV isolate, clones with open reading frames (ORFs) that

Dementia in Fragile X-associated Tremor/Ataxia Syndrome

Directory of Open Access Journals (Sweden)

Ricardo Nitrini

Full Text Available Abstract Fragile X-associated tremor/ataxia syndrome (FXTAS is a cause of movement disorders and cognitive decline which has probably been underdiagnosed, especially if its prevalence proves similar to those of progressive supranuclear palsy and amyotrophic lateral sclerosis. We report a case of a 74-year-old man who presented with action tremor, gait ataxia and forgetfulness. There was a family history of tremor and dementia, and one of the patient's grandsons was mentally deficient. Neuropsychological evaluation disclosed a frontal network syndrome. MRI showed hyperintensity of both middle cerebellar peduncles, a major diagnostic hallmark of FXTAS. Genetic testing revealed premutation of the FMR1 gene with an expanded (CGG90 repeat. The diagnosis of FXTAS is important for genetic counseling because the daughters of the affected individuals are at high risk of having offspring with fragile X syndrome. Tremors and cognitive decline should raise the diagnostic hypothesis of FXTAS, which MRI may subsequently reinforce, while the detection of the FMR1 premutation can confirm the condition.

Rheumatic Fever Associated with Antiphospholipid Syndrome: Systematic Review

Directory of Open Access Journals (Sweden)

Felipe da Silva

2014-01-01

Full Text Available Objective. To evaluate the clinical associations between rheumatic fever and antiphospholipid syndrome and the impact of coexistence of these two diseases in an individual. Methods. Systematic review in electronics databases, regarding the period from 1983 to 2012. The keywords: “Rheumatic Fever,” “Antiphospholipid Syndrome,” and “Antiphospholipid Antibody Syndrome” are used. Results. were identified 11 cases described in the literature about the association of rheumatic fever and antiphospholipid syndrome. Clinical presentation of rheumatic fever was characterized by the predominance of carditis (11/11 and chorea (7/11. Regarding the manifestations of APS, the stroke was observed in 7/11 (63.6%, with one of them having probable embolic origin. Conclusion. The present study brings the information that the association between APS and RF is quite rare, however, is of great clinical importance. Doctors who deal with the RF should include in their differential diagnosis the APS, especially in the presence of stroke in patients with RF and whose echocardiogram does not show intracavitary thrombi.

DiGeorge Syndrome: a not so rare disease

OpenAIRE

Fomin,Angela BF; Pastorino,Antonio Carlos; Kim,Chong Ae; Pereira,CA; Carneiro-Sampaio,Magda; Abe-Jacob,Cristina Miuki

2010-01-01

INTRODUCTION: The DiGeorge Syndrome was first described in 1968 as a primary immunodeficiency resulting from the abnormal development of the third and fourth pharyngeal pouches during embryonic life. It is characterized by hypocalcemia due to hypoparathyroidism, heart defects, and thymic hypoplasia or aplasia. Its incidence is 1:3000 live births and, despite its high frequency, little is known about its natural history and progression. ?This is probably due to diagnostic difficulties and the ...

Excluding joint probabilities from quantum theory

Science.gov (United States)

Allahverdyan, Armen E.; Danageozian, Arshag

2018-03-01

Quantum theory does not provide a unique definition for the joint probability of two noncommuting observables, which is the next important question after the Born's probability for a single observable. Instead, various definitions were suggested, e.g., via quasiprobabilities or via hidden-variable theories. After reviewing open issues of the joint probability, we relate it to quantum imprecise probabilities, which are noncontextual and are consistent with all constraints expected from a quantum probability. We study two noncommuting observables in a two-dimensional Hilbert space and show that there is no precise joint probability that applies for any quantum state and is consistent with imprecise probabilities. This contrasts with theorems by Bell and Kochen-Specker that exclude joint probabilities for more than two noncommuting observables, in Hilbert space with dimension larger than two. If measurement contexts are included into the definition, joint probabilities are not excluded anymore, but they are still constrained by imprecise probabilities.

A Rare Case of Mayer-Rokitansky-Kuster-Hauser Syndrome Presenting with Acute Psychosis.

Science.gov (United States)

Nath, Kamal; Boro, Bhanita; Naskar, Subrata

2016-04-01

The psychiatric co-morbidities in female population with mullerian agenesis is an area with limited research. This is probably due to the fact that when those patients are diagnosed not much attention or information is given for long term psychiatric follow-up. Owing to their inability to bear children, these subjects often become socially harassed. Thus these constant stressors may lead to development of psychopathology in future. Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a congenital abnormality with absence of uterus, cervix and vagina, but normal secondary sexual characteristics and external genitalia and occurs in every 1 out of 4000-10,000 females. There is also limited literature on the probable common chromosomal aetiology for both psychosis and MRKH patients. We, present here a case of MRKH syndrome, whose initial presentation was psychosis only. In this respect, we also highlight the much neglected need of appropriate psychiatric screening and provision of psychiatric care in this population.

Primary Sjogren’s Syndrome Presenting as Acute Interstitial Pneumonitis/Hamman-Rich Syndrome

Directory of Open Access Journals (Sweden)

Abidullah Khan

2016-01-01

Full Text Available A previously well, 45-year-old Pakistani lady was admitted to the medical unit on-call of Khyber Teaching Hospital (KTH Peshawar with a 5-day history of fever, productive cough with copious mucoid sputum, dyspnea, and pleuritic chest pain. She also complained of dry eyes, mouth, and vagina. Her chest X-ray showed diffuse alveolar shadowing and arterial gas analysis confirmed type 1 respiratory failure. Over the next few days, she deteriorated rapidly making an urgent transfer to the medical intensive care unit (MICU necessary, where she was mechanically ventilated. An HRCT followed by bronchoscopic biopsies made a diagnosis of acute interstitial pneumonitis (AIP, formerly known as Hamman-Rich syndrome. She also turned out to be positive for both anti-SS-A/Ro and anti-SS-B/La antibodies along with a positive Schirmer’s test and lower lip biopsy. She received intravenous steroids and supportive care. The patient had a complete recovery after approximately three weeks’ stay in the hospital with lung function returning back to normal. This is most probably the first ever case of primary Sjogren syndrome (pSjS presenting as AIP, recovering completely in less than a month time.

Linear positivity and virtual probability

International Nuclear Information System (INIS)

Hartle, James B.

2004-01-01

We investigate the quantum theory of closed systems based on the linear positivity decoherence condition of Goldstein and Page. The objective of any quantum theory of a closed system, most generally the universe, is the prediction of probabilities for the individual members of sets of alternative coarse-grained histories of the system. Quantum interference between members of a set of alternative histories is an obstacle to assigning probabilities that are consistent with the rules of probability theory. A quantum theory of closed systems therefore requires two elements: (1) a condition specifying which sets of histories may be assigned probabilities and (2) a rule for those probabilities. The linear positivity condition of Goldstein and Page is the weakest of the general conditions proposed so far. Its general properties relating to exact probability sum rules, time neutrality, and conservation laws are explored. Its inconsistency with the usual notion of independent subsystems in quantum mechanics is reviewed. Its relation to the stronger condition of medium decoherence necessary for classicality is discussed. The linear positivity of histories in a number of simple model systems is investigated with the aim of exhibiting linearly positive sets of histories that are not decoherent. The utility of extending the notion of probability to include values outside the range of 0-1 is described. Alternatives with such virtual probabilities cannot be measured or recorded, but can be used in the intermediate steps of calculations of real probabilities. Extended probabilities give a simple and general way of formulating quantum theory. The various decoherence conditions are compared in terms of their utility for characterizing classicality and the role they might play in further generalizations of quantum mechanics

The pleasures of probability

CERN Document Server

Isaac, Richard

1995-01-01

The ideas of probability are all around us. Lotteries, casino gambling, the al­ most non-stop polling which seems to mold public policy more and more­ these are a few of the areas where principles of probability impinge in a direct way on the lives and fortunes of the general public. At a more re­ moved level there is modern science which uses probability and its offshoots like statistics and the theory of random processes to build mathematical descriptions of the real world. In fact, twentieth-century physics, in embrac­ ing quantum mechanics, has a world view that is at its core probabilistic in nature, contrary to the deterministic one of classical physics. In addition to all this muscular evidence of the importance of probability ideas it should also be said that probability can be lots of fun. It is a subject where you can start thinking about amusing, interesting, and often difficult problems with very little mathematical background. In this book, I wanted to introduce a reader with at least a fairl...

Probable Inference and Quantum Mechanics

International Nuclear Information System (INIS)

Grandy, W. T. Jr.

2009-01-01

In its current very successful interpretation the quantum theory is fundamentally statistical in nature. Although commonly viewed as a probability amplitude whose (complex) square is a probability, the wavefunction or state vector continues to defy consensus as to its exact meaning, primarily because it is not a physical observable. Rather than approach this problem directly, it is suggested that it is first necessary to clarify the precise role of probability theory in quantum mechanics, either as applied to, or as an intrinsic part of the quantum theory. When all is said and done the unsurprising conclusion is that quantum mechanics does not constitute a logic and probability unto itself, but adheres to the long-established rules of classical probability theory while providing a means within itself for calculating the relevant probabilities. In addition, the wavefunction is seen to be a description of the quantum state assigned by an observer based on definite information, such that the same state must be assigned by any other observer based on the same information, in much the same way that probabilities are assigned.

The concave iris in pigment dispersion syndrome.

Science.gov (United States)

Liu, Lance; Ong, Ee Lin; Crowston, Jonathan

2011-01-01

To visualize the changes of the iris contour in patients with pigment dispersion syndrome after blinking, accommodation, and pharmacologic miosis using anterior segment optical coherence tomography. Observational case series. A total of 33 eyes of 20 patients with pigment dispersion syndrome. Each eye was imaged along the horizontal 0- to 180-degree meridian using the Visante Anterior Segment Imaging System (Carl Zeiss Meditec, Dublin, CA). Scans were performed at baseline and after focusing on an internal fixation target for 5 minutes, forced blinking, accommodation, and pharmacologic miosis with pilocarpine 2%. Quantitative analysis of the changes in the iris configuration. After 5 minutes of continual fixation, the iris became planar with the mean ± standard deviation curvature decreasing from 214 ± 74 μm to 67 ± 76 μm (P pigment dispersion syndrome after forced blinking, but the iris concavity recovered to 227 ± 113 μm (P = 0.34) and 238 ± 119 μm (P = 0.19) with the -3.0 and -6.0 diopter lenses, respectively. Pilocarpine-induced miosis caused the iris to assume a planar configuration in all subjects. This study shows that the iris in pigment dispersion syndrome assumes a planar configuration when fixating and that the concavity of the iris surface is not restored by blinking. Accommodation restored the iris concavity, suggesting that the posterior curvature of the iris in pigment dispersion syndrome is induced and probably maintained, at least in part, by accommodation. Copyright © 2011 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

Psychophysics of the probability weighting function

Science.gov (United States)

Takahashi, Taiki

2011-03-01

A probability weighting function w(p) for an objective probability p in decision under risk plays a pivotal role in Kahneman-Tversky prospect theory. Although recent studies in econophysics and neuroeconomics widely utilized probability weighting functions, psychophysical foundations of the probability weighting functions have been unknown. Notably, a behavioral economist Prelec (1998) [4] axiomatically derived the probability weighting function w(p)=exp(-() (01e)=1e,w(1)=1), which has extensively been studied in behavioral neuroeconomics. The present study utilizes psychophysical theory to derive Prelec's probability weighting function from psychophysical laws of perceived waiting time in probabilistic choices. Also, the relations between the parameters in the probability weighting function and the probability discounting function in behavioral psychology are derived. Future directions in the application of the psychophysical theory of the probability weighting function in econophysics and neuroeconomics are discussed.

Probability concepts in quality risk management.

Science.gov (United States)

Claycamp, H Gregg

2012-01-01

Essentially any concept of risk is built on fundamental concepts of chance, likelihood, or probability. Although risk is generally a probability of loss of something of value, given that a risk-generating event will occur or has occurred, it is ironic that the quality risk management literature and guidelines on quality risk management tools are relatively silent on the meaning and uses of "probability." The probability concept is typically applied by risk managers as a combination of frequency-based calculation and a "degree of belief" meaning of probability. Probability as a concept that is crucial for understanding and managing risk is discussed through examples from the most general, scenario-defining and ranking tools that use probability implicitly to more specific probabilistic tools in risk management. A rich history of probability in risk management applied to other fields suggests that high-quality risk management decisions benefit from the implementation of more thoughtful probability concepts in both risk modeling and risk management. Essentially any concept of risk is built on fundamental concepts of chance, likelihood, or probability. Although "risk" generally describes a probability of loss of something of value, given that a risk-generating event will occur or has occurred, it is ironic that the quality risk management literature and guidelines on quality risk management methodologies and respective tools focus on managing severity but are relatively silent on the in-depth meaning and uses of "probability." Pharmaceutical manufacturers are expanding their use of quality risk management to identify and manage risks to the patient that might occur in phases of the pharmaceutical life cycle from drug development to manufacture, marketing to product discontinuation. A probability concept is typically applied by risk managers as a combination of data-based measures of probability and a subjective "degree of belief" meaning of probability. Probability as

Cancer treatment induced metabolic syndrome: Improving outcome with lifestyle.

Science.gov (United States)

Westerink, N L; Nuver, J; Lefrandt, J D; Vrieling, A H; Gietema, J A; Walenkamp, A M E

2016-12-01

Increasing numbers of long-term cancer survivors face important treatment related adverse effects. Cancer treatment induced metabolic syndrome (CTIMetS) is an especially prevalent and harmful condition. The aetiology of CTIMetS likely differs from metabolic syndrome in the general population, but effective treatment and prevention methods are probably similar. In this review, we summarize the potential mechanisms leading to the development of CTIMetS after various types of cancer treatment. Furthermore, we propose a safe and accessible method to treat or prevent CTIMetS through lifestyle change. In particular, we suggest that a lifestyle intervention and optimization of energy balance can prevent or mitigate the development of CTIMetS, which may contribute to optimal survivorship care. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

The perception of probability.

Science.gov (United States)

Gallistel, C R; Krishan, Monika; Liu, Ye; Miller, Reilly; Latham, Peter E

2014-01-01

We present a computational model to explain the results from experiments in which subjects estimate the hidden probability parameter of a stepwise nonstationary Bernoulli process outcome by outcome. The model captures the following results qualitatively and quantitatively, with only 2 free parameters: (a) Subjects do not update their estimate after each outcome; they step from one estimate to another at irregular intervals. (b) The joint distribution of step widths and heights cannot be explained on the assumption that a threshold amount of change must be exceeded in order for them to indicate a change in their perception. (c) The mapping of observed probability to the median perceived probability is the identity function over the full range of probabilities. (d) Precision (how close estimates are to the best possible estimate) is good and constant over the full range. (e) Subjects quickly detect substantial changes in the hidden probability parameter. (f) The perceived probability sometimes changes dramatically from one observation to the next. (g) Subjects sometimes have second thoughts about a previous change perception, after observing further outcomes. (h) The frequency with which they perceive changes moves in the direction of the true frequency over sessions. (Explaining this finding requires 2 additional parametric assumptions.) The model treats the perception of the current probability as a by-product of the construction of a compact encoding of the experienced sequence in terms of its change points. It illustrates the why and the how of intermittent Bayesian belief updating and retrospective revision in simple perception. It suggests a reinterpretation of findings in the recent literature on the neurobiology of decision making. (PsycINFO Database Record (c) 2014 APA, all rights reserved).

Women with double primary cancers of the colorectum and endometrium: do they have Lynch syndrome?

Science.gov (United States)

Song, Taejong; Kim, Min Kyu; Lee, Yoo-Young; Choi, Chel Hun; Kim, Tae-Joong; Lee, Jeong-Won; Bae, Duk-Soo; Kim, Byoung-Gie

2016-04-01

The aim of this study was to determine the clinical characteristics of women with double primary cancers of the colorectum and endometrium and assess the probability of Lynch syndrome. We identified 15 women with paraffin-embedded blocks available who were diagnosed, treated and followed for double primary colorectal and endometrial cancers at in a single institution between 1994 and 2014. If there was a family history that met the revised Amsterdam criteria for Lynch syndrome, the woman was considered to have 'clinically defined Lynch syndrome'. If immunohistochemical (IHC) loss of expression of mismatch repair genes (MLH1, MSH2, MSH6, or PMS2) or high microsatellite instability (MSI) was demonstrated in molecular testing, the case was considered 'suspected Lynch syndrome'. The incidence of clinically defined Lynch syndrome according to the revised Amsterdam criteria was 66% (8 of 15). All 8 of the women clinically diagnosed with Lynch syndrome had either abnormal IHC loss or MSI-high, indicating a suspected Lynch syndrome. Furthermore, 27% (4 of 15) experienced second primary colorectal cancer or other Lynch syndrome-related cancers. Overall, 66% (10 of 15) met the criteria for clinically defined Lynch syndrome or suspected Lynch syndrome. Based on our findings, a large percentage (66%) of women with double primary cancers of the colorectum and endometrium are likely to be diagnosed with Lynch syndrome. Copyright © 2015. Published by Elsevier Ireland Ltd.

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.

Science.gov (United States)

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.

Introduction to probability with R

CERN Document Server

Baclawski, Kenneth

2008-01-01

FOREWORD PREFACE Sets, Events, and Probability The Algebra of Sets The Bernoulli Sample Space The Algebra of Multisets The Concept of Probability Properties of Probability Measures Independent Events The Bernoulli Process The R Language Finite Processes The Basic Models Counting Rules Computing Factorials The Second Rule of Counting Computing Probabilities Discrete Random Variables The Bernoulli Process: Tossing a Coin The Bernoulli Process: Random Walk Independence and Joint Distributions Expectations The Inclusion-Exclusion Principle General Random Variable

Applied probability and stochastic processes

CERN Document Server

Sumita, Ushio

1999-01-01

Applied Probability and Stochastic Processes is an edited work written in honor of Julien Keilson. This volume has attracted a host of scholars in applied probability, who have made major contributions to the field, and have written survey and state-of-the-art papers on a variety of applied probability topics, including, but not limited to: perturbation method, time reversible Markov chains, Poisson processes, Brownian techniques, Bayesian probability, optimal quality control, Markov decision processes, random matrices, queueing theory and a variety of applications of stochastic processes. The book has a mixture of theoretical, algorithmic, and application chapters providing examples of the cutting-edge work that Professor Keilson has done or influenced over the course of his highly-productive and energetic career in applied probability and stochastic processes. The book will be of interest to academic researchers, students, and industrial practitioners who seek to use the mathematics of applied probability i...

Understanding Bartter syndrome and Gitelman syndrome.

Science.gov (United States)

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.

PRENATAL DIAGNOSIS OF ROBERT/SC SYNDROME IN A DIABETIC MOTHER WITH A HISTORY OF MEBENDAZOLE AND GLIBENCLAMIDE INTAKE

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M. Pourissa

2003-07-01

Full Text Available The Robert/SC (pseudothalidomide syndrome is a rare autosomal recessive disorder, associated with phocomelia and craniofacial abnormalities. An anomalous fetus with lower limb phocomelia and micromelia, lumbar myeloschisis, upper limb and ribs defects and craniofacial abnormalities is reported whose diabetic mother took mebendazole and glibenclamide in early pregnancy. Ultrasonographic findings of syndromes with phocomelia are discussed as well as Robert/SC syndrome which is the most probable diagnosis. Robert/SC phocomelia syndrome is a rare autosomal recessive condition characterized by severe pre and postnatal growth deficiency, symmetric limb reductions of variable severity and craniofacial anomalies including hypertelorism, hypoplastic nasal alae, cleft lip and palate. About half of the reported cases presented chromosomal abnormalities. We think that findings in our case are consistent with Robert/SC syndrome with additional abnormalities.

Generalized epilepsy in a patient with mosaic Turner syndrome: a case report.

Science.gov (United States)

Jhang, Kai-Ming; Chang, Tung-Ming; Chen, Ming; Liu, Chin-San

2014-04-02

Reports on cases of epilepsy in Turner syndrome are rare and most of them have cortical developmental malformations. We report the case of a Taiwanese patient with mosaic Turner syndrome with generalized tonic-clonic epilepsy and asymmetrical lateral ventricles but no apparent cortical anomaly. A 49-year-old Taiwanese woman without family history presented with infrequent generalized tonic-clonic epilepsy since she was 11 years old. On examination, her short stature, webbed neck, swelling of hands and feet, retrognathic face, and mild intellectual disability were noted. She had spontaneous menarche and regular menses. Brain magnetic resonance imaging showed asymmetrical lateral ventricles and diffuse subcortical white matter T2-weighted hyperintensities. Chromosome studies disclosed low aneuploid (10%) 45,X/46,XX/47,XXX mosaic Turner syndrome. There is increasing evidence that epilepsy can be an uncommon presentation of Turner syndrome. Mosaic Turner syndrome with 47, XXX probably increases the risk of epilepsy but more research is needed to reach a conclusion. This case also strengthens our knowledge that Turner syndrome can be one of the pathologic bases of asymmetrical lateral ventricles. When a patient has idiopathic/cryptogenic epilepsy or asymmetrical lateral ventricles on brain images, the presence of a mild Turner phenotype warrants further chromosome studies.

Collision Probability Analysis

DEFF Research Database (Denmark)

Hansen, Peter Friis; Pedersen, Preben Terndrup

1998-01-01

It is the purpose of this report to apply a rational model for prediction of ship-ship collision probabilities as function of the ship and the crew characteristics and the navigational environment for MS Dextra sailing on a route between Cadiz and the Canary Islands.The most important ship and crew...... characteristics are: ship speed, ship manoeuvrability, the layout of the navigational bridge, the radar system, the number and the training of navigators, the presence of a look out etc. The main parameters affecting the navigational environment are ship traffic density, probability distributions of wind speeds...... probability, i.e. a study of the navigator's role in resolving critical situations, a causation factor is derived as a second step.The report documents the first step in a probabilistic collision damage analysis. Future work will inlcude calculation of energy released for crushing of structures giving...

Irreversibility and conditional probability

International Nuclear Information System (INIS)

Stuart, C.I.J.M.

1989-01-01

The mathematical entropy - unlike physical entropy - is simply a measure of uniformity for probability distributions in general. So understood, conditional entropies have the same logical structure as conditional probabilities. If, as is sometimes supposed, conditional probabilities are time-reversible, then so are conditional entropies and, paradoxically, both then share this symmetry with physical equations of motion. The paradox is, of course that probabilities yield a direction to time both in statistical mechanics and quantum mechanics, while the equations of motion do not. The supposed time-reversibility of both conditionals seems also to involve a form of retrocausality that is related to, but possibly not the same as, that described by Costa de Beaurgard. The retrocausality is paradoxically at odds with the generally presumed irreversibility of the quantum mechanical measurement process. Further paradox emerges if the supposed time-reversibility of the conditionals is linked with the idea that the thermodynamic entropy is the same thing as 'missing information' since this confounds the thermodynamic and mathematical entropies. However, it is shown that irreversibility is a formal consequence of conditional entropies and, hence, of conditional probabilities also. 8 refs. (Author)

Macrodontia, shovel-shaped incisors, and multituberculism: probable Ekman-Westborg-Julin trait.

Science.gov (United States)

Reardon, Gayle Tieszen; Slayton, L Rebecca; Norby, Clinton; Geneser, Teresa

2012-01-01

Multiple macrodontia is a rare finding and is defined as a condition in which a tooth is significantly larger than normal. Macrodontia may occur as an isolated finding, part of a group of dental anomalies, or as a component of a syndrome with multiple oral and systemic manifestations. The purpose of this paper was to report a case of macrodontia affecting all permanent teeth and exhibiting shovel-shaped maxillary and mandibular incisors and multituberculate molars and premolars. Some or all of this patient's characteristics have been reported in both males and females, with a ratio of 5:2. No inheritance pattern has been established, as these traits have generally occurred spontaneously. As more individuals are identified and as molecular techniques continue to advance, it is probable that a gene or genes responsible for macrodontia and the associated traits will be identified.

Circulating Levels of Uric Acid and Risk for Metabolic Syndrome.

Science.gov (United States)

Rubio-Guerra, Alberto F; Morales-López, Herlinda; Garro-Almendaro, Ana K; Vargas-Ayala, German; Durán-Salgado, Montserrat B; Huerta-Ramírez, Saul; Lozano-Nuevo, Jose J

2017-01-01

Hyperuricemia leads to insulin resistance, whereas insulin resistance decreases renal excretion of uric acid, both mechanisms link elevated serum uric acid with metabolic syndrome. The aim of this study is to evaluate the probability for the development of metabolic syndrome in low-income young adults with hyperuricaemia. We evaluated 103 patients less than 40 years of age, from a low-income population, and without history of cardiovascular disease, in all of them the presence of metabolic syndrome was assessed in accordance with the International Diabetes Federation criteria. In all patients, fasting serum uric acid levels were measured; hyperuricaemia was defined as serum uric acid values 6.5 mg/dl in men and 5.1 mg/dl in women. Statistical analysis was performed with odds ratio. 83 of our patients (80.5%) suffered metabolic syndrome, the odds ratio for the presence of metabolic syndrome in patients with hyperuricaemia was 5.1 (p=0.002, I.C 1.8- 14.5). When patients were evaluated by gender a significantly association between hyperuricaemia and metabolic syndrome was found in women (odds ratio 3.6, p=0.048, C.I. 1.0-12.9), and men (odds ratio 10.2, p= 0.015, IC 1.5-13.2). When uric acid was correlated with the components of metabolic syndrome, we only found a positive correlation with waist circumference (r=0.483). Our results showed a significant association between hyperuricemia and metabolic syndrome in low-income young adults in Mexico. DR is associated with estimated risk of CVD in type 2 diabetic patients. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

Introduction to probability with Mathematica

CERN Document Server

Hastings, Kevin J

2009-01-01

Discrete ProbabilityThe Cast of Characters Properties of Probability Simulation Random SamplingConditional ProbabilityIndependenceDiscrete DistributionsDiscrete Random Variables, Distributions, and ExpectationsBernoulli and Binomial Random VariablesGeometric and Negative Binomial Random Variables Poisson DistributionJoint, Marginal, and Conditional Distributions More on ExpectationContinuous ProbabilityFrom the Finite to the (Very) Infinite Continuous Random Variables and DistributionsContinuous ExpectationContinuous DistributionsThe Normal Distribution Bivariate Normal DistributionNew Random Variables from OldOrder Statistics Gamma DistributionsChi-Square, Student's t, and F-DistributionsTransformations of Normal Random VariablesAsymptotic TheoryStrong and Weak Laws of Large Numbers Central Limit TheoremStochastic Processes and ApplicationsMarkov ChainsPoisson Processes QueuesBrownian MotionFinancial MathematicsAppendixIntroduction to Mathematica Glossary of Mathematica Commands for Probability Short Answers...

Failure probability under parameter uncertainty.

Science.gov (United States)

Gerrard, R; Tsanakas, A

2011-05-01

In many problems of risk analysis, failure is equivalent to the event of a random risk factor exceeding a given threshold. Failure probabilities can be controlled if a decisionmaker is able to set the threshold at an appropriate level. This abstract situation applies, for example, to environmental risks with infrastructure controls; to supply chain risks with inventory controls; and to insurance solvency risks with capital controls. However, uncertainty around the distribution of the risk factor implies that parameter error will be present and the measures taken to control failure probabilities may not be effective. We show that parameter uncertainty increases the probability (understood as expected frequency) of failures. For a large class of loss distributions, arising from increasing transformations of location-scale families (including the log-normal, Weibull, and Pareto distributions), the article shows that failure probabilities can be exactly calculated, as they are independent of the true (but unknown) parameters. Hence it is possible to obtain an explicit measure of the effect of parameter uncertainty on failure probability. Failure probability can be controlled in two different ways: (1) by reducing the nominal required failure probability, depending on the size of the available data set, and (2) by modifying of the distribution itself that is used to calculate the risk control. Approach (1) corresponds to a frequentist/regulatory view of probability, while approach (2) is consistent with a Bayesian/personalistic view. We furthermore show that the two approaches are consistent in achieving the required failure probability. Finally, we briefly discuss the effects of data pooling and its systemic risk implications. © 2010 Society for Risk Analysis.

Severe dry-eye syndrome following external beam irradiation

International Nuclear Information System (INIS)

Parsons, J.T.; Bova, F.J.; Million, R.R.

1994-01-01

There are limited data in the literature on the probability of dry-eye complications according to radiotherapy dose. This study investigates the risk of radiation-induced severe dry-eye syndrome in patients in whom an entire orbit was exposed to fractionated external beam irradiation. Between October 1964 and May 1989, 33 patients with extracranial head and neck tumors received irradiation of an entire orbit. Most patients were treated with 60 Co. The dose to the lacrimal apparatus was calculated at a depth of 1 cm from the anterior skin surface, the approximate depth of the major lacrimal gland. The end point of the study was severe dry-eye syndrome sufficient to produce visual loss secondary to corneal opacification, ulceration, or vascularization. Twenty patients developed severe dry-eye syndrome. All 17 patients who received dose ≥57Gy developed severe dry-eye syndrome. Three (19%) of 16 patients who received doses ≥45 Gy developed severe dry-eye syndrome; injuries in the latter group were much more slower to develop (4 to 11 years) than in the higher dose group, in whom corneal vascularization and opacification were usually pronounced within 9-10 months. There were no data for the range of doses between 45.01 and 56.99 Gy. The data did not suggest an increased risk of severe dry-eye syndrome with increasing age. Data from the current series and the literature are combined to construct a sigmoid dose response curve. The incidence of injury increases from 0% reported after doses ≥30 Gy to 100% after doses ≥57 Gy. 13 refs., 3 figs., 5 tabs

Atrioventricular canal defect and associated genetic disorders: new insights into polydactyly syndromes

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M. Cristina Digilio

2011-07-01

Full Text Available Atrioventricular canal defect (AVCD is a common congenital heart defect (CHD, representing 7.4% of all cardiac malformations, considered secondary to an extracellular matrix anomaly. The AVCD is associated with extracardiac defects in about 75% of the cases. In this review we analyzed different syndromic AVCDs, in particular those associated with polydactyly disorders, which show remarkable genotype-phenotype correlations. Chromo - some imbalances more frequently associated with AVCD include Down syndrome, deletion 8p23 and deletion 3p25, while mendelian disorders include Noonan syndrome and related RASopathies, several polydactyly syndromes, CHARGE and 3C (cranio-cerebello-cardiac syndrome. The complete form of AVCD is prevalent in patients with chromosomal imbalances. Additional cardiac defects are found in patients affected by chromosomal imbalances different from Down syndrome. Left-sided obstructive lesions are prevalently found in patients with RASopathies. Patients with deletion 8p23 often display AVCD with tetralogy of Fallot or with pulmonary valve stenosis. Tetralogy of Fallot is the only additional cardiac defect found in patients with Down syndrome and AVCD. On the other hand, the association of AVCD and tetralogy of Fallot is also quite characteristic of CHARGE and 3C syndromes. Heterotaxia defects, including common atrium and anomalous pulmonary venous return, occur in patients with AVCD associated with polydactyly syndromes (Ellis-van Creveld, short rib polydactyly, oral-facial-digital, Bardet-Biedl, and Smith-Lemli-Opitz syndromes. The initial clinical evidence of anatomic similarities between AVCD and heterotaxia in polydactyly syndromes was corroborated and explained by experimental studies in transgenic mice. These investigations have suggested the involvement of the Sonic Hedgehog pathway in syndromes with postaxial polydactyly and heterotaxia, and ciliary dysfunction was detected as pathomechanism for these disorders

Interleukin-10 Genotype Correlated to Deficiency Syndrome in Hepatitis B Cirrhosis

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Qing-Ya Li

2012-01-01

Full Text Available Traditional Chinese medicine (TCM syndrome is an important basis for TCM diagnosis and treatment. As Child-Pugh classification as well as compensation and decompensation phase in liver cirrhosis, it is also an underlying clinical classification. In this paper, we investigated the correlation between single nucleotide polymorphisms (SNPs of Interleukin-10 (IL-10 and TCM syndromes in patients with hepatitis B cirrhosis (HBC. Samples were obtained from 343 HBC patients in China. Three SNPs of IL-10 (−592A/C, −819C/T, and −1082A/G were detected with polymerase chain-reaction-ligase detection reaction (PCR-LDR. The result showed the SNP-819C/T was significantly correlated with Deficiency syndrome (P=0.031, but none of the 3 loci showed correlation either with Child-Pugh classification and phase in HBC patients. The logistic regression analysis showed that the Excess syndrome was associated with dizzy and spider nevus, and the Deficiency syndrome was associated with dry eyes, aversion to cold, IL-10-819C/T loci, and IL-10-1082A/G loci. The odds ratio (OR value at IL-10-819C/T was 4.022. The research results suggested that IL-10-819C/T locus (TC plus CC genotype is probably a risk factor in the occurrence of Deficiency syndrome in HBC patients.

Ancient representation of Meige's syndrome in the Moche culture in the pre-Columbian Peru.

Science.gov (United States)

Martinez-Castrillo, Juan Carlos; Mariscal, Ana; Garcia-Ruiz, Pedro

2010-03-15

The Moches were a pre-Columbian culture from Peru, who had a fine ceramic technique and used to represent diseases. One example is the potter presented here which represents a man with a probable Meige's syndrome and may be the first artistic representation of this disease.

Adenosine triphosphate and diphosphoglycerate levels in red blood cells from patients with Down's syndrome.

Science.gov (United States)

Knull, H R; Bronstein, W W; Porter, P J

1978-09-15

The levels of ATP and ATP plus DPG were significantly elevated in erythrocytes from Down's syndrome patients when compared to erythrocytes from age matched controls. The hemoglobin content and hematocrit values were significantly reduced. The resultant tendency towards anemia probably explains the elevation in metabolite levels.

Clinical, radiological and imunogenectical study in patients with Reiter's Syndrome

International Nuclear Information System (INIS)

Souza Meirelles, E. de.

1987-01-01

This study puspose was to investigate the clinical, radiological and immunogenetical parameters from a brazilian Reiter's Syndrome population. Twenty Reiter's Syndrome patients from ''Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo'' were prospectivelly studied in their demographical (sex, race, age at study, age at disease onset and disease duration), epidemiological (family history), clinical (general, articular, mucocutaneous, genitourinary, ocular and intestinal manifestations besides functional capacity at study), radiological (sacro-iliitis, spondylitis and calcaneal spur) and immunogenetical (HLA loci A, B and DR typing). The technique employed in the 61 aloantigens from loci HLA A (17), B (34) and DR (10) typing was Terasaki microlymphocitotoxicity modified by Danilovs, had being performed in the ''Laboratorio de Imunogenetica da Faculdade de Medicina da Universidade de Sao Paulo''. We concluded that the clinical, radiological and immunogenetical Reiter's Syndrome expression in the brazilian population is similar to the others north american or european already studied populations and that the probability of one brazilian HLA B27 positie individual to develop Reiter's Syndrome is 19 fold larger when compared to one brazilian HLA B27 negative individual. (author) [pt

Conditional Probability Modulates Visual Search Efficiency

Directory of Open Access Journals (Sweden)

Bryan eCort

2013-10-01

Full Text Available We investigated the effects of probability on visual search. Previous work has shown that people can utilize spatial and sequential probability information to improve target detection. We hypothesized that performance improvements from probability information would extend to the efficiency of visual search. Our task was a simple visual search in which the target was always present among a field of distractors, and could take one of two colors. The absolute probability of the target being either color was 0.5; however, the conditional probability – the likelihood of a particular color given a particular combination of two cues – varied from 0.1 to 0.9. We found that participants searched more efficiently for high conditional probability targets and less efficiently for low conditional probability targets, but only when they were explicitly informed of the probability relationship between cues and target color.

22q11.2 microdeletion syndrome as a multidisciplinary problem

Directory of Open Access Journals (Sweden)

Marta Skoczyńska

2017-12-01

Full Text Available 22q11.2 microdeletion syndrome, known also under the name of DiGeorge syndrome, is the most frequent deletion in the human chromosome. Its prevalence is estimated at about 1:9,700 newborns, but this is probably an underestimation. In over 90% of cases, the disease is caused by de novo microdeletion in the long arm of chromosome 22, and more rarely by microdeletion of the short arm of this chromosome or by a gene TBX1 point mutation. The consequences of these genotypic disorders are developmental anomalies of the third and fourth pharyngeal arches during the foetal life, which leads to abnormal development of the thymus, parathyroid glands and major cardiac vessels. The characteristic triad of symptoms includes a cardiac defect, hypocalcaemic tetany (hypoparathyroidism and immunodeficiency. The syndrome may also manifest as facial dysmorphia, palate defects, gastrointestinal abnormalities, urogenital malformations, autoimmune diseases and psychiatric disorders. Standard tests to diagnose this syndrome are molecular studies, such as fluorescence in situ hybridization, array comparative genomic hybridization and a type of polymerase chain reaction: multiplex ligationdependent probe amplification. The therapy of DiGeorge syndrome may include: calcium supplementation, surgical correction of cardiac and palate defects, treatment of immunodeficiency by injections of immunoglobulins, stem cell transplantation or, in rare cases, thymus transplantation. The management of DiGeorge syndrome requires a multidisciplinary approach. Early diagnosis and treatment significantly improve patient’s chances for normal functioning in adult life.

Ventricular arrhythmias in the absence of structural heart disease.

Science.gov (United States)

Prystowsky, Eric N; Padanilam, Benzy J; Joshi, Sandeep; Fogel, Richard I

2012-05-15

Ventricular arrhythmia (VA) in structurally normal hearts can be broadly considered under non-life-threatening monomorphic and life-threatening polymorphic rhythms. Monomorphic VA is classified on the basis of site of origin in the heart, and the most common areas are the ventricular outflow tracts and left ventricular fascicles. The morphology of the QRS complexes on electrocardiogram is an excellent tool to identify the site of origin of the rhythm. Although these arrhythmias are common and generally carry an excellent prognosis, rare sudden death events have been reported. Very frequent ventricular ectopy may also result in a cardiomyopathy in a minority of patients. Suppression of VA may be achieved using calcium-channel blockers, beta-adrenergic blockers, and class I or III antiarrhythmic drugs. Radiofrequency ablation has emerged as an excellent option to eliminate these arrhythmias, although certain foci including aortic cusps and epicardium may be technically challenging. Polymorphic ventricular tachycardia (VT) is rare and generally occurs in patients with genetic ion channel disorders including long QT syndrome, Brugada syndrome, catecholaminergic polymorphic VT, and short QT syndrome. Unlike monomorphic VT, these arrhythmic syndromes are associated with sudden death. While the cardiac gross morphology is normal, suggesting a structurally normal heart, abnormalities exist at the molecular level and predispose them to arrhythmias. Another fascinating area, idiopathic ventricular fibrillation and early repolarization syndrome, are undergoing research for a genetic basis. Copyright © 2012 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

[Cognitive impairments accompanying the burnout syndrome - a review].

Science.gov (United States)

Riedrich, Karin; Weiss, Elisabeth M; Dalkner, Nina; Reininghaus, Eva; Papousek, Ilona; Schwerdtfeger, Andreas; Lackner, Helmut K; Reininghaus, Bernd

2017-03-01

The rising prevalence of the burnout syndrome has increasingly moved it into the focus of scientific interest. In addition to emotional exhaustion and depersonalization, particularly reduced personal accomplishment has strong societal and economic effects. In recent years reduced personal accomplishment has increasingly been linked to cognitive impairment. However, up to now only a few studies have objectively assessed cognitive deficits in burnout patients. This article gives an overview of 16 studies which examined cognitive abilities in burnout patients. The findings are partly contradictory, probably due to methodical differences. Consensus has emerged concerning impairments of executive functions, i.a. vigilance, and memory updating and monitoring. Multifactorial causation may underlie the cognitive impairments. Targeted longitudinal studies are necessary in order to identify the affected cognitive functions and be able to make causal inferences on links between the burnout syndrome and specific cognitive impairments.

A first course in probability

CERN Document Server

Ross, Sheldon

2014-01-01

A First Course in Probability, Ninth Edition, features clear and intuitive explanations of the mathematics of probability theory, outstanding problem sets, and a variety of diverse examples and applications. This book is ideal for an upper-level undergraduate or graduate level introduction to probability for math, science, engineering and business students. It assumes a background in elementary calculus.

Reproductive and Metabolic Consequences of the Polycystic Ovarian Syndrome

OpenAIRE

Hudecova, Miriam

2010-01-01

Polycystic ovary syndrome (PCOS) is a complex clinical condition characterized by hyperandrogenism and chronic oligo/anovulation. Infrequent ovulation and metabolic alterations in women with PCOS are associated with subfertility and probably increased miscarriage rates compared with normal fertile women. The overall risk of developing type 2 diabetes and impaired glucose tolerance (IGT) is three- to sevenfold higher in PCOS women, and the onset of glucose intolerance seems to occur at an earl...

Estimating Subjective Probabilities

DEFF Research Database (Denmark)

Andersen, Steffen; Fountain, John; Harrison, Glenn W.

2014-01-01

either construct elicitation mechanisms that control for risk aversion, or construct elicitation mechanisms which undertake 'calibrating adjustments' to elicited reports. We illustrate how the joint estimation of risk attitudes and subjective probabilities can provide the calibration adjustments...... that theory calls for. We illustrate this approach using data from a controlled experiment with real monetary consequences to the subjects. This allows the observer to make inferences about the latent subjective probability, under virtually any well-specified model of choice under subjective risk, while still...

Probability and Bayesian statistics

CERN Document Server

1987-01-01

This book contains selected and refereed contributions to the "Inter­ national Symposium on Probability and Bayesian Statistics" which was orga­ nized to celebrate the 80th birthday of Professor Bruno de Finetti at his birthplace Innsbruck in Austria. Since Professor de Finetti died in 1985 the symposium was dedicated to the memory of Bruno de Finetti and took place at Igls near Innsbruck from 23 to 26 September 1986. Some of the pa­ pers are published especially by the relationship to Bruno de Finetti's scientific work. The evolution of stochastics shows growing importance of probability as coherent assessment of numerical values as degrees of believe in certain events. This is the basis for Bayesian inference in the sense of modern statistics. The contributions in this volume cover a broad spectrum ranging from foundations of probability across psychological aspects of formulating sub­ jective probability statements, abstract measure theoretical considerations, contributions to theoretical statistics an...

Recent Advances in the Pathogenesis of Syndromic Autisms

Directory of Open Access Journals (Sweden)

A. Benvenuto

2009-01-01

Full Text Available Background. Current advances in genetic technology continue to expand the list of medical conditions associated with autism. Clinicians have to identify specific autistic-related syndromes, and to provide tailored counseling. The aim of this study is to elucidate recent advances in autism research that offer important clues into pathogenetic mechanisms of syndromic autism and relevant implications for clinical practice. Data Sources. The PubMed database was searched with the keywords “autism” and “chromosomal abnormalities,” “metabolic diseases,” “susceptibility loci.” Results. Defined mutations, genetic syndromes, and metabolic diseases account for up to 20% of autistic patients. Metabolic and mitochondrial defects may have toxic effects on the brain cells, causing neuronal loss and altered modulation of neurotransmission systems. Alterations of the neocortical excitatory/inhibitory balance and perturbations of interneurons' development represent the most probable pathogenetic mechanisms underlying the autistic phenotype in Fragile X-Syndrome and Tuberous Sclerosis Complex. Chromosomal abnormalities and potential candidate genes are strongly implicated in the disruption of neural connections, brain growth, and synaptic/dendritic morphology. Conclusion. Metabolic testing may be appropriate if specific symptoms are present. High-resolution chromosome analysis may be recommended if a specific diagnosis is suspected because of obvious dysmorphisms. Identifying cryptic chromosomal abnormalities by whole genome microarray analysis can increase the understanding of the neurobiological pathways to autism.

[Maxillofacial and dental abnormalities in some multiple abnormality syndromes. "Cri du chat" syndrome, Wilms' tumor-aniridia syndrome; Sotos syndrome; Goldenhar syndrome].

Science.gov (United States)

Berio, A; Trucchi, R; Meliota, M

1992-05-01

The paper describes the maxillo-facial and dental anomalies observed in some chromosome and non-chromosome poly-malformative syndromes ("Cri du chat" syndrome; Wilms' tumour; Sotos' syndrome; Goldenhar's syndrome). The Authors emphasise the possibility of diagnosing these multiple deformity syndromes from maxillo-facial alterations in early infancy; anomalous tooth position and structure cal also be successfully treated immediately after the first appearance of teeth. This is a particularly promising field of pediatrics and preventive pediatric medicine.

[Isolated severe neurologic disorders in post-partum: posterior reversible encephalopathy syndrome].

Science.gov (United States)

Wernet, A; Benayoun, L; Yver, C; Bruno, O; Mantz, J

2007-01-01

Just after Caesarean section for twin pregnancy and feto-pelvic dysproportion, a woman presented severe headaches and arterial hypertension, then blurred vision, then generalised seizures. There were no oedematous syndrome, proteinuria was negative, ASAT were 1.5 N and platelet count was 120,000/mm(3). Cerebral CT-scan was normal. Posterior reversible encephalopathy syndrome (PRES) was diagnosed on MRI. A second MRI performed at day 9 showed complete regression of cerebral lesions, while patient was taking anti-hypertensive and antiepileptic drugs. PRES has to be evoked in post-partum central neurological symptoms, even in absence of classical sign of pre-eclampsia, like proteinuria. PRES and eclampsia share probably common physiopathological pathways. There management and prognosis seems identical.

Market-implied risk-neutral probabilities, actual probabilities, credit risk and news

Directory of Open Access Journals (Sweden)

Shashidhar Murthy

2011-09-01

Full Text Available Motivated by the credit crisis, this paper investigates links between risk-neutral probabilities of default implied by markets (e.g. from yield spreads and their actual counterparts (e.g. from ratings. It discusses differences between the two and clarifies underlying economic intuition using simple representations of credit risk pricing. Observed large differences across bonds in the ratio of the two probabilities are shown to imply that apparently safer securities can be more sensitive to news.

A case of idiopathic intracranial calcifications - Hahr syndrome

International Nuclear Information System (INIS)

Georgiev, R.; Balev, B.; Georgieva, M.; Georgiev, J.

2006-01-01

Full text: The purpose of the study is to review the clinical manifestation, imaging characteristics and pathophysiology of the Fahr syndrome and to present a case of the Fahr syndrome from our clinic. The Fahr syndrome is a rare neurodegenerative disorder, characterized by seizures, tetany, psychomotor retardation, development of a spastic paralysis, athetosis and parkinson like syndrome. It is inherited by an AR way but in affected families (relatives) an AD way is also possible. Sporadic cases have been known. Recently a possible chromosome locus on 14q was proved. Probably the case in point is a group of anomalies, in which symmetrically and bilaterally significant calcifications in the region of the basal ganglia, dentate nuclei in cerebellum and centrum semiovale are found. It is not clear yet whether these calcifications are a result from a 'metastatic' deposition because of a local destruction of the blood-brain barrier or are due to a disturbance in the neuronic calcium metabolism. The X-ray findings could be accidental in an asymptomatic patient but a progressive development of an extrapyramidal syndrome may be also observed. Our case is a 37 years old woman with seizures with loss of consciousness, convulsions and urine incontinence. The complaints are dated from the age of 5 years old. The X-ray images disclosed striking non-natural calcifications in globus pallidus, putamen, n.caudatus, thalami, n.dentati, cerebellum.The blood test revealed normal serum levels of calcium, phosphorus, alkaline phosphatase. The CT findings put together with the typical clinical history and the normal blood test were a prerequisite for this diagnosis

Spatial probability aids visual stimulus discrimination

Directory of Open Access Journals (Sweden)

Michael Druker

2010-08-01

Full Text Available We investigated whether the statistical predictability of a target's location would influence how quickly and accurately it was classified. Recent results have suggested that spatial probability can be a cue for the allocation of attention in visual search. One explanation for probability cuing is spatial repetition priming. In our two experiments we used probability distributions that were continuous across the display rather than relying on a few arbitrary screen locations. This produced fewer spatial repeats and allowed us to dissociate the effect of a high probability location from that of short-term spatial repetition. The task required participants to quickly judge the color of a single dot presented on a computer screen. In Experiment 1, targets were more probable in an off-center hotspot of high probability that gradually declined to a background rate. Targets garnered faster responses if they were near earlier target locations (priming and if they were near the high probability hotspot (probability cuing. In Experiment 2, target locations were chosen on three concentric circles around fixation. One circle contained 80% of targets. The value of this ring distribution is that it allowed for a spatially restricted high probability zone in which sequentially repeated trials were not likely to be physically close. Participant performance was sensitive to the high-probability circle in addition to the expected effects of eccentricity and the distance to recent targets. These two experiments suggest that inhomogeneities in spatial probability can be learned and used by participants on-line and without prompting as an aid for visual stimulus discrimination and that spatial repetition priming is not a sufficient explanation for this effect. Future models of attention should consider explicitly incorporating the probabilities of targets locations and features.

A probability space for quantum models

Science.gov (United States)

Lemmens, L. F.

2017-06-01

A probability space contains a set of outcomes, a collection of events formed by subsets of the set of outcomes and probabilities defined for all events. A reformulation in terms of propositions allows to use the maximum entropy method to assign the probabilities taking some constraints into account. The construction of a probability space for quantum models is determined by the choice of propositions, choosing the constraints and making the probability assignment by the maximum entropy method. This approach shows, how typical quantum distributions such as Maxwell-Boltzmann, Fermi-Dirac and Bose-Einstein are partly related with well-known classical distributions. The relation between the conditional probability density, given some averages as constraints and the appropriate ensemble is elucidated.

Probability, Nondeterminism and Concurrency

DEFF Research Database (Denmark)

Varacca, Daniele

Nondeterminism is modelled in domain theory by the notion of a powerdomain, while probability is modelled by that of the probabilistic powerdomain. Some problems arise when we want to combine them in order to model computation in which both nondeterminism and probability are present. In particula...

Probable C4d-negative accelerated acute antibody-mediated rejection due to non-HLA antibodies.

Science.gov (United States)

Niikura, Takahito; Yamamoto, Izumi; Nakada, Yasuyuki; Kamejima, Sahoko; Katsumata, Haruki; Yamakawa, Takafumi; Furuya, Maiko; Mafune, Aki; Kobayashi, Akimitsu; Tanno, Yudo; Miki, Jun; Yamada, Hiroki; Ohkido, Ichiro; Tsuboi, Nobuo; Yamamoto, Hiroyasu; Yokoo, Takashi

2015-07-01

We report a case of probable C4d-negative accelerated acute antibody-mediated rejection due to non-HLA antibodies. A 44 year-old male was admitted to our hospital for a kidney transplant. The donor, his wife, was an ABO minor mismatch (blood type O to A) and had Gitelman syndrome. Graft function was delayed; his serum creatinine level was 10.1 mg/dL at 3 days after transplantation. Open biopsy was performed immediately; no venous thrombosis was observed during surgery. Histology revealed moderate peritubular capillaritis and mild glomerulitis without C4d immunoreactivity. Flow cytometric crossmatching was positive, but no panel-reactive antibodies against HLA or donor-specific antibodies (DSAbs) to major histocompatibility complex class I-related chain A (MICA) were detected. Taken together, we diagnosed him with probable C4d-negative accelerated antibody-mediated rejection due to non-HLA, non-MICA antibodies, the patient was treated with steroid pulse therapy (methylprednisolone 500 mg/day for 3 days), plasma exchange, intravenous immunoglobulin (40 g/body), and rituximab (200 mg/body) were performed. Biopsy at 58 days after transplantation, at which time S-Cr levels were 1.56 mg/dL, found no evidence of rejection. This case, presented with a review of relevant literature, demonstrates that probable C4d-negative accelerated acute AMR can result from non-HLA antibodies. © 2015 Asian Pacific Society of Nephrology.

White coat hypertension in definition of metabolic syndrome.

Science.gov (United States)

Helvaci, Mehmet Rami; Kaya, Hasan; Seyhanli, Mahmut; Yalcin, Atilla

2008-07-01

Although white coat hypertension (WCH) is believed to have an effect on health, there is no term defining WCH in metabolic syndrome. Consecutive patients 20 years old or older who underwent a check-up were included. The study included 1068 cases. The prevalences of hyperbetalipoproteinemia, hypertriglyceridemia, dyslipidemia, impaired glucose tolerance (IGT), and WCH were similar to excess weight in that they increased significantly until the seventh decade of life and decreased thereafter significantly (P hypertension (HT), diabetes mellitus (DM), and coronary heart disease (CHD) always increased significantly with age without any decrease (P definition of metabolic syndrome should include reversible metabolic risk factors such as excess weight (overweight and obesity), hyperbetalipoproteinemia, hypertriglyceridemia, dyslipidemia, IGT, and WCH, instead of irrevesible diseases such as DM, HT, CHD, and stroke that have already developed and require drug therapy. After development of one of the final metabolic diseases, the term metabolic syndrome probably loses most of its significance, since from that point on, nonpharmaceutical approaches such as lifestyle changes, diet, and exercise will provide little benefit to prevent development of the others, most likely due to the cumulative effects of the risk factors on body systems over a long period of time.

Ignition Probability

Data.gov (United States)

Earth Data Analysis Center, University of New Mexico — USFS, State Forestry, BLM, and DOI fire occurrence point locations from 1987 to 2008 were combined and converted into a fire occurrence probability or density grid...

Hypertriglyceridemia Thalassemia Syndrome: Common Disease, Uncommon Association.

Science.gov (United States)

Das, Lipsa; Samprathi, Madhusudan; Shukla, Umesh; Bandyopadhyay, Debapriya; Das, Rashmi Ranjan

2016-07-01

Hypertriglyceridemia has been rarely described with thalassemia, an entity called hypertriglyceridemia-thalassemia syndrome. The authors describe a young infant diagnosed with thalassemia major with severe hypertriglyceridemia. The presence of severe hypertriglyceridemia in this child which rapidly resolved after transfusion, probably suggests a self limited mechanism which may not require therapy. Though hypertriglyceridemia has been reported with hemolytic anemias, the mechanism is unclear. This case illustrates that thalassemia may be associated with hypertriglyceridemia; once familial and secondary causes are ruled out, clinicians may wait for spontaneous resolution before considering specific therapy.

Recognition and management of Shaken Baby Syndrome

LENUS (Irish Health Repository)

Nicholson, Alf

2016-04-01

Abusive head trauma (previously referred to as Shaken Baby Syndrome) consists of a triad of findings which included subdural haemorrhage, retinal haemorrhages and encephalopathy after receiving a shake injury or blunt trauma to the head. Debate rages regarding the exact mechanism. Previously published reports on abusive head trauma (AHT) highlight the young age of the victims (median 4 months of age), the significant preponderance of male infants (3:1 in most series), the high rate of probable male perpetrators (just over 50%), and relatively high rates of mortality and morbidity

Marfan syndrome masked by Down syndrome?

NARCIS (Netherlands)

Vis, J.C.; Engelen, K. van; Timmermans, J.; Hamel, B.C.J.; Mulder, B.J.

2009-01-01

Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome.

A Novel Fibrillin-1 Gene Mutation Leading to Marfan Syndrome in a Korean Girl.

Science.gov (United States)

Nam, Hyo-Kyoung; Nam, Myung-Hyun; Ha, Kee-Soo; Rhie, Young-Jun; Lee, Kee-Hyoung

2017-03-01

Marfan syndrome is an autosomal dominant genetic disorder caused by a connective tissue defect. A nine-year-old girl was referred to our pediatric endocrinology clinic for tall stature. Physical examination revealed a lens dislocation with strabismus, high palate, positive wrist and thumb signs, joint hypermobility, and pes planus. Transthoracic echocardiography revealed dilatation of the aortic root. She was diagnosed with Marfan syndrome based on the revised Ghent diagnostic criteria. Molecular investigation identified a heterozygous c.2810G >A variation in the FBN1 gene in the patient, but not in her parents. To our knowledge, this sequence variant has been reported as a polymorphism (rs113602180), but it is the first report identifying it as the genetic cause of Marfan syndrome. We hypothesize that this de novo novel missense FBN1 mutation disrupts fibrillin-1 function and is probably involved in the development of Marfan syndrome in this patient. © 2017 by the Association of Clinical Scientists, Inc.

The concept of metabolic syndrome: contribution of visceral fat accumulation and its molecular mechanism.

Science.gov (United States)

Matsuzawa, Yuji; Funahashi, Tohru; Nakamura, Tadashi

2011-01-01

Although abdominal obesity or visceral obesity is considered to be one of the components of metabolic syndrome and to have an important role in a cluster of cardiovascular risks, there is no consensus about the definition and diagnostic criteria for this syndrome, probably because there is considerable disagreement about the location and definition of abdominal obesity or visceral obesity.In this review article, the important role of visceral fat accumulation in the development of a variety of lifestyle-related diseases is shown, including cardiovascular disease based on our clinical studies using CT scans, and the mechanism of these disorders is discussed, focusing on adipocytokines, especially adiponectin.The importance of diagnosing metabolic syndrome, in which visceral fat accumulation plays an essential role in the development of multiple risk factors, should be emphasized because lifestyle modification for the reduction of visceral fat may be very effective for the reduction of risks of this type, namely metabolic syndrome in the narrow sense.

Stevens-Johnson syndrome in a patient with rheumatoid arthritis during long-term etanercept therapy.

Science.gov (United States)

Owczarczyk-Saczonek, Agnieszka; Zdanowska, Natalia; Znajewska-Pander, Aleksandra; Placek, Waldemar

2016-03-31

Etanercept and other anti-TNF-alpha agents have been indicated as a therapeutic option in severe drug reactions, including Stevens-Johnson syndrome and toxic epidermal necrolysis. Etanercept has been shown to quickly reduce the detachment of the epidermis and shorten healing time. Cases of etanercept-induced severe adverse drug reactions were also described. A 27-year-old woman with a 4-year history of etanercept and sulfasalazine treatment for rheumatoid arthritis was admitted with Stevens-Johnson syndrome. The patient received one dose of an OTC drug containing acetaminophen, phenylephrine and pheniramine two days prior to developing fist mucocutaneous symptoms. The most probable causative agent was paracetamol. Throughout the successful routine therapy of Stevens-Johnson syndrome etanercept therapy was continued. Sulfosalazin administration was stopped and administered again after recovery with no recurrence of the skin and mucosal symptoms. This case indicates that there is no justification for discontinuation of long-term anti-TNF-alpha treatment in patients who develop Stevens- Johnson syndrome / toxic epidermal necrolysis.

Probability of Failure in Random Vibration

DEFF Research Database (Denmark)

Nielsen, Søren R.K.; Sørensen, John Dalsgaard

1988-01-01

Close approximations to the first-passage probability of failure in random vibration can be obtained by integral equation methods. A simple relation exists between the first-passage probability density function and the distribution function for the time interval spent below a barrier before out......-crossing. An integral equation for the probability density function of the time interval is formulated, and adequate approximations for the kernel are suggested. The kernel approximation results in approximate solutions for the probability density function of the time interval and thus for the first-passage probability...

[Prevalence of chronic fatigue syndrome and primary fibromyalgia syndrome in The Netherlands].

Science.gov (United States)

Bazelmans, E; Vercoulen, J H; Galama, J M; van Weel, C; van der Meer, J W; Bleijenberg, G

1997-08-02

To determine the prevalence of chronic fatigue syndrome (CFS) and of primary fibromyalgia syndrome (PFS) in the Netherlands. Questionnaire. Department of Medical Psychology, University Hospital Nijmegen, the Netherlands. A questionnaire was mailed to all the 6657 general practitioners in the Netherlands in order to inform them of the existence of CFS and to ask them if they had any CFS or PFS patients in their practices. Sixty percent (n = 4027) of the general practitioners returned the questionnaire. Of all the general practitioners, 27% said they had no CFS patients, 23% said they had 1 CFS patient, while 21% had 2 CFS patients, and 29% said they had 3 or more CFS patients in their practice. Concerning PFS the results were 17% (no PFS patients), 18%, 18% and 47%, respectively. With a mean practice of 2486 patients per general practice, the estimated prevalence of CFS was 112 per 100,000 and that of PFS 157 per 100,000 persons. Of the CFS patients 81% were women and 55% were 25-44 years old; for PFS these figures were 87% and 48% respectively. Extrapolation of the study results indicates that there are at least 17,000 CFS patients and 24,000 PFS patients in the Netherlands. The found prevalence is probably an under-estimation.

A novel mutation of the adrenocorticotropin receptor (ACTH-R) gene in a family with the syndrome of isolated glucocorticoid deficiency, but no ACTH-R abnormalities in two families with the triple A syndrome

Energy Technology Data Exchange (ETDEWEB)

Tsigos, C.; Arai, K.; Latronico, A.C. [National Inst. of Child Health and Human Development, Bethesda, MD (United States)]|[Temple Univ. School of Medicine, Philadelphia, PA (United States)]|[Children`s Hospital of New Jersey, Newark, NJ (United States)] [and others

1995-07-01

Isolated glucocorticoid deficiency (IGD) is an autosomal recessive disorder characterized by primary adrenocortical insufficiency, usually without mineralocorticoid deficiency. Occasionally, the disorder is associated with alacrima and achalasia of the esophagus (triple A syndrome), suggesting potential heterogeneity in its etiology. Mutations in the ACTH receptor gene have been reported in several families with IGD. We have amplified and directly sequenced the entire intronless ACTH receptor gene in 1 other family with IGD and 2 famlies with triple A syndrome. The proband with IGD was a homozygote for an A {r_arrow}G substitution, changing tyrosine 254 to cysteine in the third extracellular loop of the receptor protein, probably interfering with ligand binding. Both of her parents were heterozygotes for this mutation, which was not detected in 100 normal alleles. No mutations were identified in the entire coding area of the ACTH receptor in the 2 families with triple A syndrome, supporting the idea of a developmental or postreceptor defect in this syndrome. 19 refs., 1 fig.

Restless Legs Syndrome with Current Diagnostic Criteria

Directory of Open Access Journals (Sweden)

Meral Bilgilisoy Filiz

2015-08-01

Full Text Available Restless legs syndrome (RLS, also known as Willis-Ekbom disease, is a chronic movement disorder, characterized by an urge to move legs usually accompanied by uncomfortable sensations and sleep disorders. The prevalence of the syndrome ranges from 1% to 15% in the general population, and about 2% during childhood. RLS is the most common movement disorder in pregnancy. However RLS still remains underdiagnosed probably due to lack of accurate information about the disease. Family history is positive in 50-70% of the primary RLS patients. The secondary form of the syndrome is associated with iron deficiency, renal failure, pregnancy, diabetes mellitus and many rheumatologic disorders. Secondary forms generally manifest at older ages and have a rapid progression with a poorer prognosis. The pathophysiology of RLS is focused on the dopaminergic system, reduced central nervous system iron levels and genetic linkages. Diagnosis is based on clinical features and the diagnostic criteria suggested by International RLS Study Group. Secondary causes must be carefully investigated before the treatment. In mild forms of the disease non-pharmacologic therapies might be useful, while in moderate or severe forms of the disease generally pharmacologic therapies such as dopamine agonists, anticonvulsants, opioids and benzodiazepines are required. (Turkish Journal of Osteoporosis 2015;21: 87-95

Coffin-Siris syndrome with multiple congenital malformations and intrauterine death: towards a better delineation of the severe end of the spectrum.

Science.gov (United States)

Coulibaly, Béma; Sigaudy, Sabine; Girard, Nadine; Popovici, Cornel; Missirian, Chantal; Heckenroth, Hélène; Tasei, Anne-Marie; Fernandez, Carla

2010-01-01

Coffine-Siris syndrome or "fifth digit" syndrome is a multiple congenital anomaly-mental retardation syndrome with severe developmental delay, coarse facial features, hirsutism and absent fifth fingernails or toenails or fifth distal phalanges. The etiology of this syndrome remains uncertain. Here we report a stillborn male baby born from consanguineous parents who might represent a very severe form of Coffine-Siris syndrome with cardiac defect and multiple brain malformations including corpus callosum agenesis and Dandy Walker malformation. To the best of our knowledge, it is the first case leading to intrauterine death. Karyotype and array comparative genomic hybridization were normal; these results give additional support to mendelian inheritance for this syndrome. In our family, the most likely mode of inheritance is autosomal recessive and the recurrence is probably as high as 25%. Copyright © 2010 Elsevier Masson SAS. All rights reserved.

Invariant probabilities of transition functions

CERN Document Server

Zaharopol, Radu

2014-01-01

The structure of the set of all the invariant probabilities and the structure of various types of individual invariant probabilities of a transition function are two topics of significant interest in the theory of transition functions, and are studied in this book. The results obtained are useful in ergodic theory and the theory of dynamical systems, which, in turn, can be applied in various other areas (like number theory). They are illustrated using transition functions defined by flows, semiflows, and one-parameter convolution semigroups of probability measures. In this book, all results on transition probabilities that have been published by the author between 2004 and 2008 are extended to transition functions. The proofs of the results obtained are new. For transition functions that satisfy very general conditions the book describes an ergodic decomposition that provides relevant information on the structure of the corresponding set of invariant probabilities. Ergodic decomposition means a splitting of t...

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

Science.gov (United States)

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.

The concept of probability

International Nuclear Information System (INIS)

Bitsakis, E.I.; Nicolaides, C.A.

1989-01-01

The concept of probability is now, and always has been, central to the debate on the interpretation of quantum mechanics. Furthermore, probability permeates all of science, as well as our every day life. The papers included in this volume, written by leading proponents of the ideas expressed, embrace a broad spectrum of thought and results: mathematical, physical epistemological, and experimental, both specific and general. The contributions are arranged in parts under the following headings: Following Schroedinger's thoughts; Probability and quantum mechanics; Aspects of the arguments on nonlocality; Bell's theorem and EPR correlations; Real or Gedanken experiments and their interpretation; Questions about irreversibility and stochasticity; and Epistemology, interpretation and culture. (author). refs.; figs.; tabs

Choice probability generating functions

DEFF Research Database (Denmark)

Fosgerau, Mogens; McFadden, Daniel; Bierlaire, Michel

2010-01-01

This paper establishes that every random utility discrete choice model (RUM) has a representation that can be characterized by a choice-probability generating function (CPGF) with specific properties, and that every function with these specific properties is consistent with a RUM. The choice...... probabilities from the RUM are obtained from the gradient of the CPGF. Mixtures of RUM are characterized by logarithmic mixtures of their associated CPGF. The paper relates CPGF to multivariate extreme value distributions, and reviews and extends methods for constructing generating functions for applications....... The choice probabilities of any ARUM may be approximated by a cross-nested logit model. The results for ARUM are extended to competing risk survival models....

Hamartomatous polyposis syndromes

DEFF Research Database (Denmark)

Jelsig, Anne Marie; Qvist, Niels; Brusgaard, Klaus

2014-01-01

Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as ......Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes...

Pioglitazone treatment increases spontaneous growth hormone (GH) secretion and stimulated GH levels in polycystic ovary syndrome

DEFF Research Database (Denmark)

Glintborg, Dorte; Støving, René Klinkby; Hagen, Claus

2005-01-01

BACKGROUND: Low GH levels, probably due to insulin resistance and increased abdominal fat mass, are well described in polycystic ovary syndrome (PCOS). GH acts as an important ovarian cogonadotropin, and GH disturbances may be an additional pathogenic factor in PCOS. Decreased abdominal fat mass...

Neuromyelitis optica with Hashimoto′s thyroiditis: A new syndrome or just coincidence

Directory of Open Access Journals (Sweden)

Abhishek Singhai

2015-01-01

Full Text Available Neuromyelitis optica (NMO is an uncommon disease syndrome of the central nervous system that affects the optic nerves and spinal cord. NMO with endocrinopathies has been described as being unique to black Antillean and Afro-Brazilian women. We describe one case of NMO with hashimoto′s thyroiditis in a young female, probably first case report in India.

Probability via expectation

CERN Document Server

Whittle, Peter

1992-01-01

This book is a complete revision of the earlier work Probability which ap­ peared in 1970. While revised so radically and incorporating so much new material as to amount to a new text, it preserves both the aim and the approach of the original. That aim was stated as the provision of a 'first text in probability, de­ manding a reasonable but not extensive knowledge of mathematics, and taking the reader to what one might describe as a good intermediate level'. In doing so it attempted to break away from stereotyped applications, and consider applications of a more novel and significant character. The particular novelty of the approach was that expectation was taken as the prime concept, and the concept of expectation axiomatized rather than that of a probability measure. In the preface to the original text of 1970 (reproduced below, together with that to the Russian edition of 1982) I listed what I saw as the advantages of the approach in as unlaboured a fashion as I could. I also took the view that the text...

The probability outcome correpondence principle : a dispositional view of the interpretation of probability statements

NARCIS (Netherlands)

Keren, G.; Teigen, K.H.

2001-01-01

This article presents a framework for lay people's internal representations of probabilities, which supposedly reflect the strength of underlying dispositions, or propensities, associated with the predicted event. From this framework, we derive the probability-outcome correspondence principle, which

Poisson Processes in Free Probability

OpenAIRE

An, Guimei; Gao, Mingchu

2015-01-01

We prove a multidimensional Poisson limit theorem in free probability, and define joint free Poisson distributions in a non-commutative probability space. We define (compound) free Poisson process explicitly, similar to the definitions of (compound) Poisson processes in classical probability. We proved that the sum of finitely many freely independent compound free Poisson processes is a compound free Poisson processes. We give a step by step procedure for constructing a (compound) free Poisso...

Solving probability reasoning based on DNA strand displacement and probability modules.

Science.gov (United States)

Zhang, Qiang; Wang, Xiaobiao; Wang, Xiaojun; Zhou, Changjun

2017-12-01

In computation biology, DNA strand displacement technology is used to simulate the computation process and has shown strong computing ability. Most researchers use it to solve logic problems, but it is only rarely used in probabilistic reasoning. To process probabilistic reasoning, a conditional probability derivation model and total probability model based on DNA strand displacement were established in this paper. The models were assessed through the game "read your mind." It has been shown to enable the application of probabilistic reasoning in genetic diagnosis. Copyright © 2017 Elsevier Ltd. All rights reserved.

Sensitivity of the probability of failure to probability of detection curve regions

International Nuclear Information System (INIS)

Garza, J.; Millwater, H.

2016-01-01

Non-destructive inspection (NDI) techniques have been shown to play a vital role in fracture control plans, structural health monitoring, and ensuring availability and reliability of piping, pressure vessels, mechanical and aerospace equipment. Probabilistic fatigue simulations are often used in order to determine the efficacy of an inspection procedure with the NDI method modeled as a probability of detection (POD) curve. These simulations can be used to determine the most advantageous NDI method for a given application. As an aid to this process, a first order sensitivity method of the probability-of-failure (POF) with respect to regions of the POD curve (lower tail, middle region, right tail) is developed and presented here. The sensitivity method computes the partial derivative of the POF with respect to a change in each region of a POD or multiple POD curves. The sensitivities are computed at no cost by reusing the samples from an existing Monte Carlo (MC) analysis. A numerical example is presented considering single and multiple inspections. - Highlights: • Sensitivities of probability-of-failure to a region of probability-of-detection curve. • The sensitivities are computed with negligible cost. • Sensitivities identify the important region of a POD curve. • Sensitivities can be used as a guide to selecting the optimal POD curve.

A Comparison of Dysautonomias Comorbid with Cyclic Vomiting Syndrome and with Migraine

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Gisela Chelimsky

2009-01-01

Full Text Available Cyclic vomiting syndrome (CVS shares many features with migraine headache, including auras, photophobia, and antimigrainous treatment response being traditionally viewed as a migraine variant. Aims. To determine whether CVS is associated with the same disorders as migraine headache, and compare these associations to those in healthy control subjects. Methods. Cross-sectional study of patients utilizing the ODYSA instrument, evaluating the probability of 12 functional/autonomic diagnoses, CVS, migraine, orthostatic intolerance (OI, reflex syncope, interstitial cystitis, Raynaud's syndrome, complex regional pain syndrome (CRPS, irritable bowel syndrome, functional dyspepsia, functional abdominal pain, fibromyalgia, and chronic fatigue syndrome. Control subjects were age-matched gender-matched friends. Patients had to fulfill criteria for CVS or migraine, while control subjects could not. Results. 103 subjects were studied, 21 with CVS, 46 with migraine and 36 healthy controls. CVS and migraine did not differ in the relative frequencies of fibromyalgia, OI, syncope, and functional dyspepsia. However, CVS patients did demonstrate a significantly elevated frequency of CRPS. Conclusions. Although CVS and migraine clearly share many of the same comorbidities, they do differ in one important association, suggesting that they may not be identical in pathophysiology. Since OI is common in CVS, treatment strategies could also target this abnormality.

ClC-K chloride channels: emerging pathophysiology of Bartter syndrome type 3.

Science.gov (United States)

Andrini, Olga; Keck, Mathilde; Briones, Rodolfo; Lourdel, Stéphane; Vargas-Poussou, Rosa; Teulon, Jacques

2015-06-15

The mutations in the CLCNKB gene encoding the ClC-Kb chloride channel are responsible for Bartter syndrome type 3, one of the four variants of Bartter syndrome in the genetically based nomenclature. All forms of Bartter syndrome are characterized by hypokalemia, metabolic alkalosis, and secondary hyperaldosteronism, but Bartter syndrome type 3 has the most heterogeneous presentation, extending from severe to very mild. A relatively large number of CLCNKB mutations have been reported, including gene deletions and nonsense or missense mutations. However, only 20 CLCNKB mutations have been functionally analyzed, due to technical difficulties regarding ClC-Kb functional expression in heterologous systems. This review provides an overview of recent progress in the functional consequences of CLCNKB mutations on ClC-Kb chloride channel activity. It has been observed that 1) all ClC-Kb mutants have an impaired expression at the membrane; and 2) a minority of the mutants combines reduced membrane expression with altered pH-dependent channel gating. Although further investigation is needed to fully characterize disease pathogenesis, Bartter syndrome type 3 probably belongs to the large family of conformational diseases, in which the mutations destabilize channel structure, inducing ClC-Kb retention in the endoplasmic reticulum and accelerated channel degradation. Copyright © 2015 the American Physiological Society.

Truth, possibility and probability new logical foundations of probability and statistical inference

CERN Document Server

Chuaqui, R

1991-01-01

Anyone involved in the philosophy of science is naturally drawn into the study of the foundations of probability. Different interpretations of probability, based on competing philosophical ideas, lead to different statistical techniques, and frequently to mutually contradictory consequences. This unique book presents a new interpretation of probability, rooted in the traditional interpretation that was current in the 17th and 18th centuries. Mathematical models are constructed based on this interpretation, and statistical inference and decision theory are applied, including some examples in artificial intelligence, solving the main foundational problems. Nonstandard analysis is extensively developed for the construction of the models and in some of the proofs. Many nonstandard theorems are proved, some of them new, in particular, a representation theorem that asserts that any stochastic process can be approximated by a process defined over a space with equiprobable outcomes.

Logic, probability, and human reasoning.

Science.gov (United States)

Johnson-Laird, P N; Khemlani, Sangeet S; Goodwin, Geoffrey P

2015-04-01

This review addresses the long-standing puzzle of how logic and probability fit together in human reasoning. Many cognitive scientists argue that conventional logic cannot underlie deductions, because it never requires valid conclusions to be withdrawn - not even if they are false; it treats conditional assertions implausibly; and it yields many vapid, although valid, conclusions. A new paradigm of probability logic allows conclusions to be withdrawn and treats conditionals more plausibly, although it does not address the problem of vapidity. The theory of mental models solves all of these problems. It explains how people reason about probabilities and postulates that the machinery for reasoning is itself probabilistic. Recent investigations accordingly suggest a way to integrate probability and deduction. Copyright © 2015 Elsevier Ltd. All rights reserved.

Pre-Aggregation with Probability Distributions

DEFF Research Database (Denmark)

Timko, Igor; Dyreson, Curtis E.; Pedersen, Torben Bach

2006-01-01

Motivated by the increasing need to analyze complex, uncertain multidimensional data this paper proposes probabilistic OLAP queries that are computed using probability distributions rather than atomic values. The paper describes how to create probability distributions from base data, and how...... the distributions can be subsequently used in pre-aggregation. Since the probability distributions can become large, we show how to achieve good time and space efficiency by approximating the distributions. We present the results of several experiments that demonstrate the effectiveness of our methods. The work...... is motivated with a real-world case study, based on our collaboration with a leading Danish vendor of location-based services. This paper is the first to consider the approximate processing of probabilistic OLAP queries over probability distributions....

An intelligent system based on fuzzy probabilities for medical diagnosis – a study in aphasia diagnosis

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Majid Moshtagh Khorasani

2009-04-01

Full Text Available

• BACKGROUND: Aphasia diagnosis is particularly challenging due to the linguistic uncertainty and vagueness, inconsistencies in the definition of aphasic syndromes, large number of measurements with  mprecision, natural diversity and subjectivity in test objects as well as in opinions of experts who diagnose the disease.
• METHODS: Fuzzy probability is proposed here as the basic framework for handling the uncertainties in medical diagnosis and particularly aphasia diagnosis. To efficiently construct this fuzzy probabilistic mapping, statistical analysis is performed that constructs input membership functions as well as determines an effective set of input features.
• RESULTS: Considering the high sensitivity of performance measures to different distribution of testing/training sets, a statistical t-test of significance is applied to compare fuzzy approach results with NN  esults as well as author’s earlier work using fuzzy logic. The proposed fuzzy probability estimator approach clearly provides better diagnosis for both classes of data sets. Specifically, for the first and second type of fuzzy probability classifiers, i.e. spontaneous speech and comprehensive model, P-values are 2.24E-08 and 0.0059, espectively, strongly rejecting the null hypothesis.
• CONCLUSIONS: The technique is applied and compared on both comprehensive and spontaneous speech test data for diagnosis of four Aphasia types: Anomic, Broca, Global and Wernicke. Statistical analysis confirms that the proposed approach can significantly improve accuracy using fewer Aphasia features.
• KEYWORDS: Aphasia, fuzzy probability, fuzzy logic, medical diagnosis, fuzzy rules.

Wall-eyed bilateral internuclear ophthalmoplegia (webino syndrome and myelopathy in pyoderma gangrenosum

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Marco Aurélio Lana

1990-12-01

Full Text Available A 35-year-old female with pyoderma gangrenosum developed paraparesis with a sensory level at L1. Three months later she complained of diplopia and was found to have bilateral internuclear ophthalmoplegia with exotropia and no ocular convergence. The term Webino syndrome has been coined to design this set of neuro-opthalmologic findings. Although it was initially attributed to lesions affecting the medial longitudinal fasciculus and the medial rectus subnuclei of the oculomotor complex in the midbrain the exact location of the lesion is still disputed. In the present case both myelopathy and Webino syndrome were probably due to vascular occlusive disease resulting from central nervous system vasculitis occurring in concomitance to pyoderma gangrenosum.

Probability and stochastic modeling

CERN Document Server

Rotar, Vladimir I

2012-01-01

Basic NotionsSample Space and EventsProbabilitiesCounting TechniquesIndependence and Conditional ProbabilityIndependenceConditioningThe Borel-Cantelli TheoremDiscrete Random VariablesRandom Variables and VectorsExpected ValueVariance and Other Moments. Inequalities for DeviationsSome Basic DistributionsConvergence of Random Variables. The Law of Large NumbersConditional ExpectationGenerating Functions. Branching Processes. Random Walk RevisitedBranching Processes Generating Functions Branching Processes Revisited More on Random WalkMarkov ChainsDefinitions and Examples. Probability Distributions of Markov ChainsThe First Step Analysis. Passage TimesVariables Defined on a Markov ChainErgodicity and Stationary DistributionsA Classification of States and ErgodicityContinuous Random VariablesContinuous DistributionsSome Basic Distributions Continuous Multivariate Distributions Sums of Independent Random Variables Conditional Distributions and ExpectationsDistributions in the General Case. SimulationDistribution F...

Action inhibition in Tourette syndrome.

Science.gov (United States)

Ganos, Christos; Kühn, Simone; Kahl, Ursula; Schunke, Odette; Feldheim, Jan; Gerloff, Christian; Roessner, Veit; Bäumer, Tobias; Thomalla, Götz; Haggard, Patrick; Münchau, Alexander

2014-10-01

Tourette syndrome is a neuropsychiatric disorder characterized by tics. Tic generation is often linked to dysfunction of inhibitory brain networks. Some previous behavioral studies found deficiencies in inhibitory motor control in Tourette syndrome, but others suggested normal or even better-than-normal performance. Furthermore, neural correlates of action inhibition in these patients are poorly understood. We performed event-related functional magnetic resonance imaging during a stop-signal reaction-time task in 14 uncomplicated adult Tourette patients and 15 healthy controls. In patients, we correlated activations in stop-signal reaction-time task with their individual motor tic frequency. Task performance was similar in both groups. Activation of dorsal premotor cortex was stronger in the StopSuccess than in the Go condition in healthy controls. This pattern was reversed in Tourette patients. A significant positive correlation was present between motor tic frequency and activations in the supplementary motor area during StopSuccess versus Go in patients. Inhibitory brain networks differ between healthy controls and Tourette patients. In the latter the supplementary motor area is probably a key relay of inhibitory processes mediating both suppression of tics and inhibition of voluntary action. © 2014 International Parkinson and Movement Disorder Society.

Transitional Probabilities Are Prioritized over Stimulus/Pattern Probabilities in Auditory Deviance Detection: Memory Basis for Predictive Sound Processing.

Science.gov (United States)

Mittag, Maria; Takegata, Rika; Winkler, István

2016-09-14

Representations encoding the probabilities of auditory events do not directly support predictive processing. In contrast, information about the probability with which a given sound follows another (transitional probability) allows predictions of upcoming sounds. We tested whether behavioral and cortical auditory deviance detection (the latter indexed by the mismatch negativity event-related potential) relies on probabilities of sound patterns or on transitional probabilities. We presented healthy adult volunteers with three types of rare tone-triplets among frequent standard triplets of high-low-high (H-L-H) or L-H-L pitch structure: proximity deviant (H-H-H/L-L-L), reversal deviant (L-H-L/H-L-H), and first-tone deviant (L-L-H/H-H-L). If deviance detection was based on pattern probability, reversal and first-tone deviants should be detected with similar latency because both differ from the standard at the first pattern position. If deviance detection was based on transitional probabilities, then reversal deviants should be the most difficult to detect because, unlike the other two deviants, they contain no low-probability pitch transitions. The data clearly showed that both behavioral and cortical auditory deviance detection uses transitional probabilities. Thus, the memory traces underlying cortical deviance detection may provide a link between stimulus probability-based change/novelty detectors operating at lower levels of the auditory system and higher auditory cognitive functions that involve predictive processing. Our research presents the first definite evidence for the auditory system prioritizing transitional probabilities over probabilities of individual sensory events. Forming representations for transitional probabilities paves the way for predictions of upcoming sounds. Several recent theories suggest that predictive processing provides the general basis of human perception, including important auditory functions, such as auditory scene analysis. Our

[Value of intravenous immunoglobulins. A case of Guillain-Barré syndrome].

Science.gov (United States)

Hidou, M; Olivier, J; Vivant, J F

1992-01-01

A case of severe Guillain-Barré syndrome (GBS) was treated with high dose intravenous immunoglobulin (IVIG), 400 mg.kg-1.days-1, over three consecutive days. The treatment was repeated once. We observed a time-related response between immunoglobulins administration and clinical improvement. The pathologic lesions of the GBS suggest that this syndrome has an immunologic basis: a humoral factor is probably not the only immunological mechanism and cellular mechanisms are also likely to be of importance. Specific mechanisms might also be present in GBS, such as anti-idiotypic suppression of autoantibodies, and elimination of circulating immune complexes. Treatment with IVIG might have several therapeutic advantages over plasmapheresis: IVIG is easily infused without any delay, is easily available and has been used widely without serious complications.

Probability tales

CERN Document Server

Grinstead, Charles M; Snell, J Laurie

2011-01-01

This book explores four real-world topics through the lens of probability theory. It can be used to supplement a standard text in probability or statistics. Most elementary textbooks present the basic theory and then illustrate the ideas with some neatly packaged examples. Here the authors assume that the reader has seen, or is learning, the basic theory from another book and concentrate in some depth on the following topics: streaks, the stock market, lotteries, and fingerprints. This extended format allows the authors to present multiple approaches to problems and to pursue promising side discussions in ways that would not be possible in a book constrained to cover a fixed set of topics. To keep the main narrative accessible, the authors have placed the more technical mathematical details in appendices. The appendices can be understood by someone who has taken one or two semesters of calculus.

Adrenocortical carcinoma, an unusual extracolonic tumor associated with Lynch II syndrome.

Science.gov (United States)

Medina-Arana, V; Delgado, L; González, L; Bravo, A; Díaz, H; Salido, E; Riverol, D; González-Aguilera, J J; Fernández-Peralta, A M

2011-06-01

Lynch syndrome (LS) is an autosomal dominant condition that predisposes to colorectal cancer and specific other tumors. Extracolonic tumors occur mainly in the endometrium, stomach, ovary, small intestine and urinary tract. The presence of rare tumors in patients belonging to families who have Lynch syndrome is always interesting, because the question arises whether these tumors should be considered as a coincidence or are related with the syndrome. In this last case, they are also the result of the defect in the mismatch repair system, opening the possibility of extending the tumor spectrum associated with the syndrome. Here we describe a patient from a Lynch syndrome family with a germline mutation c.2063T>G (p.M688R) in the MSH2 gene, who developed an adrenal cortical carcinoma, a tumor not usually associated with LS. We analyzed the adrenocortical tumour for microsatellite instability (MSI), LOH and the presence of the germline c.2063T>G (M688R) mutation. The adrenal cortical carcinoma showed the MSH2 mutation, loss of heterozygosity of the normal allele in the MSH2 gene and loss of immunohistochemical expression for MSH2 protein, but no microsatellite instability. Additionally, the adrenal cortical carcinoma did not harbour a TP53 mutation. The molecular study indicates that this adrenal cortical cancer is probably due to the mismatch repair defect.

Seckel syndrome: an overdiagnosed syndrome.

OpenAIRE

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 r...

A Tale of Two Probabilities

Science.gov (United States)

Falk, Ruma; Kendig, Keith

2013-01-01

Two contestants debate the notorious probability problem of the sex of the second child. The conclusions boil down to explication of the underlying scenarios and assumptions. Basic principles of probability theory are highlighted.

Baraitser and Winter syndrome with growth hormone deficiency.

Science.gov (United States)

Chentli, Farida; Zellagui, Hadjer

2014-01-01

Baraitser-Winter syndrome (BWS), first reported in 1988, is apparently due to genetic abnormalities that are still not well-defined, although many gene abnormalities are already discovered and de novo missense changes in the cytoplasmic actin-encoding genes (called ACTB and ACTG1) have been recently discovered. The syndrome combines facial and cerebral malformations. Facial malformations totally or partially present in the same patient are: Iris coloboma, bilateral ptosis, hypertelorism, broad nasal bridge, and prominent epicanthic folds. The various brain malformations are probably responsible for growth and mental retardation. To the best of our knowledge, the syndrome is very rare as few cases have been reported so far. Our aim was to describe a child with a phenotype that looks like BWS with proved partial growth hormone (GH) deficiency which was not reported before. A girl aged 7-year-old of consanguineous parents was referred for short stature and mental retardation. Clinical examination showed dwarfism and a delay in her mental development. Other clinical features included: Strabismus, epicanthic folds, broad nasal bridge, and brain anomalies such as lissencephaly, bilateral hygroma, and cerebral atrophy. Hormonal assessment showed partial GH deficiency without other endocrine disorders. Our case looks exactly like BWS. However, apart from facial and cerebral abnormalities, there is a partial GH deficiency which can explain the harmonious short stature. This case seems worth to be reported as it adds GH deficiency to the very rare syndrome.

Impact of controlling the sum of error probability in the sequential probability ratio test

Directory of Open Access Journals (Sweden)

Bijoy Kumarr Pradhan

2013-05-01

Full Text Available A generalized modified method is proposed to control the sum of error probabilities in sequential probability ratio test to minimize the weighted average of the two average sample numbers under a simple null hypothesis and a simple alternative hypothesis with the restriction that the sum of error probabilities is a pre-assigned constant to find the optimal sample size and finally a comparison is done with the optimal sample size found from fixed sample size procedure. The results are applied to the cases when the random variate follows a normal law as well as Bernoullian law.

Myelodysplastic syndrome evolving from aplastic anemia treated with immunosuppressive therapy: efficacy of hematopoietic stem cell transplantation.

Science.gov (United States)

Kim, Sung-Yong; Le Rademacher, Jennifer; Antin, Joseph H; Anderlini, Paolo; Ayas, Mouhab; Battiwalla, Minoo; Carreras, Jeanette; Kurtzberg, Joanne; Nakamura, Ryotaro; Eapen, Mary; Deeg, H Joachim

2014-12-01

A proportion of patients with aplastic anemia who are treated with immunosuppressive therapy develop clonal hematologic disorders, including post-aplastic anemia myelodysplastic syndrome. Many will proceed to allogeneic hematopoietic stem cell transplantation. We identified 123 patients with post-aplastic anemia myelodysplastic syndrome who from 1991 through 2011 underwent allogeneic hematopoietic stem cell transplantation, and in a matched-pair analysis compared outcome to that in 393 patients with de novo myelodysplastic syndrome. There was no difference in overall survival. There were no significant differences with regard to 5-year probabilities of relapse, non-relapse mortality, relapse-free survival and overall survival; these were 14%, 40%, 46% and 49% for post-aplastic anemia myelodysplastic syndrome, and 20%, 33%, 47% and 49% for de novo myelodysplastic syndrome, respectively. In multivariate analysis, relapse (hazard ratio 0.71; P=0.18), non-relapse mortality (hazard ratio 1.28; P=0.18), relapse-free survival (hazard ratio 0.97; P=0.80) and overall survival (hazard ratio 1.02; P=0.88) of post-aplastic anemia myelodysplastic syndrome were similar to those of patients with de novo myelodysplastic syndrome. Cytogenetic risk was independently associated with overall survival in both groups. Thus, transplant success in patients with post-aplastic anemia myelodysplastic syndrome was similar to that in patients with de novo myelodysplastic syndrome, and cytogenetics was the only significant prognostic factor for post-aplastic anemia myelodysplastic syndrome patients. Copyright© Ferrata Storti Foundation.

Stevens-Johnson syndrome following use of metronidazole in a dental patient.

Science.gov (United States)

Mazumdar, Goutameswar; Shome, Koushik

2014-01-01

Metronidazole alone rarely causes Stevens-Johnson syndrome (SJS). We present a case of an elderly male patient who, following metronidazole use, developed neurological symptoms followed by pain and blisters on both soles, erythema of face and neck, scrotal itching and erosion, and hemorrhagic encrustation around the lips and oral mucous membrane. Initial neurological symptoms followed by mucocutaneous manifestation of SJS following metronidazole use is probably a new presentation of this case.

Upgrading Probability via Fractions of Events

Directory of Open Access Journals (Sweden)

Frič Roman

2016-08-01

Full Text Available The influence of “Grundbegriffe” by A. N. Kolmogorov (published in 1933 on education in the area of probability and its impact on research in stochastics cannot be overestimated. We would like to point out three aspects of the classical probability theory “calling for” an upgrade: (i classical random events are black-and-white (Boolean; (ii classical random variables do not model quantum phenomena; (iii basic maps (probability measures and observables { dual maps to random variables have very different “mathematical nature”. Accordingly, we propose an upgraded probability theory based on Łukasiewicz operations (multivalued logic on events, elementary category theory, and covering the classical probability theory as a special case. The upgrade can be compared to replacing calculations with integers by calculations with rational (and real numbers. Namely, to avoid the three objections, we embed the classical (Boolean random events (represented by the f0; 1g-valued indicator functions of sets into upgraded random events (represented by measurable {0; 1}-valued functions, the minimal domain of probability containing “fractions” of classical random events, and we upgrade the notions of probability measure and random variable.

Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern Saskatchewan.

Science.gov (United States)

Sokoro, AbdulRazaq A H; Lepage, Joyce; Antonishyn, Nick; McDonald, Ryan; Rockman-Greenberg, Cheryl; Irvine, James; Lehotay, Denis C

2010-12-01

Mutations in the SLC25A15 gene, encoding the human inner mitochondrial membrane ornithine transporter, are thought to be responsible for hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome, a rare autosomal recessive condition. HHH syndrome has been detected in several small, isolated communities in northern Saskatchewan (SK). To determine the incidence of HHH syndrome in these communities, a PCR method was set up to detect F188Δ, the common French-Canadian mutation. Neonatal blood spots collected from all newborns from the high risk area were genotyped for the F188Δ mutation for seven consecutive years. Using DNA analysis, we estimated that the heterozygote frequency for the mutant allele for HHH syndrome to be about 1 in 19 individuals, predicting one affected child with HHH syndrome for approximately every 1,500 individuals (1 in 1,550 live births; 1 child every 12 years) in this isolated population. The frequency for the mutant allele for HHH syndrome in this isolated community is probably the highest in the world for this rare disorder. We determined that ornithine levels, by tandem mass spectrometry, were not abnormal in newborns with F188Δ mutation, carriers and normals. Ornithine rises to abnormally high levels at some time after birth well past the time that the newborn screening blood spot is collected. The timing or the reasons for the delayed rise of ornithine in affected children with HHH syndrome have not been determined. Newborn screening for HHH Syndrome in this high risk population is only possible by detection of the mutant allele using DNA analysis.

Alpha lipoic acid efficacy in burning mouth syndrome. A controlled clinical trial

Science.gov (United States)

Palacios-Sánchez, Begoña; Cerero-Lapiedra, Rocío; Llamas-Martínez, Silvia; Esparza-Gómez, Germán

2015-01-01

Background A double-blind placebo-controlled trial was conducted in order to evaluate the efficacy of alpha lipoic acid (ALA) and determine the statistical significance of the outcome variables. Burning mouth syndrome (BMS) is defined as an oral burning sensation in the absence of clinical signs which could justify the syndrome. Recent studies suggest the existence of neurological factors as a possible cause of the disease. Material and Methods 60 patients with BMS, in two groups: case group with 600 mg/day and placebo as control group; with follow up of 2 months. Results 64% of ALA patients reported some level of improvement, with a level of maintenance of 68.75% one month after treatment. 27.6% of the placebo group also demonstrated some reduction in BMS symptoms. Conclusions Long-term evolution and the intensity of symptoms are variables that reduce the probability of improvement with ALA treatment. Key words: Burning mouth syndrome, neuropathy, alpha lipoic acid. PMID:26034927

A Comprehensive Probability Project for the Upper Division One-Semester Probability Course Using Yahtzee

Science.gov (United States)

Wilson, Jason; Lawman, Joshua; Murphy, Rachael; Nelson, Marissa

2011-01-01

This article describes a probability project used in an upper division, one-semester probability course with third-semester calculus and linear algebra prerequisites. The student learning outcome focused on developing the skills necessary for approaching project-sized math/stat application problems. These skills include appropriately defining…

Aetiology, imaging and treatment of medial tibial stress syndrome

OpenAIRE

Moen, M.H.

2012-01-01

The work contained is this thesis discusses aetiology, imaging and treatment of a common leg injury: medial tibial stress syndrome (MTSS). Although a common injury, the number of scientific articles on this topic is relatively low as is explained in chapter 1. This chapter also highlights that the most probable cause of MTSS is bone overload and not traction induced periostitis. In chapter 2 a review of the literature on MTSS is provided until 2009. Chapters 3 and 4 discuss different common a...

Genetic screens to identify pathogenic gene variants in the common cancer predisposition Lynch syndrome

DEFF Research Database (Denmark)

Drost, Mark; Lützen, Anne; van Hees, Sandrine

2013-01-01

In many individuals suspected of the common cancer predisposition Lynch syndrome, variants of unclear significance (VUS), rather than an obviously pathogenic mutations, are identified in one of the DNA mismatch repair (MMR) genes. The uncertainty of whether such VUS inactivate MMR, and therefore...... function. When a residue identified as mutated in an individual suspected of Lynch syndrome is listed as critical in such a reverse diagnosis catalog, there is a high probability that the corresponding human VUS is pathogenic. To investigate the applicability of this approach, we have generated....... Nearly half of these critical residues match with VUS previously identified in individuals suspected of Lynch syndrome. This aids in the assignment of pathogenicity to these human VUS and validates the approach described here as a diagnostic tool. In a wider perspective, this work provides a model...

Rational clinical evaluation of suspected acute coronary syndromes: The value of more information.

Science.gov (United States)

Hancock, David G; Chuang, Ming-Yu Anthony; Bystrom, Rebecca; Halabi, Amera; Jones, Rachel; Horsfall, Matthew; Cullen, Louise; Parsonage, William A; Chew, Derek P

2017-12-01

Many meta-analyses have provided synthesised likelihood ratio data to aid clinical decision-making. However, much less has been published on how to safely combine clinical information in practice. We aimed to explore the benefits and risks of pooling clinical information during the ED assessment of suspected acute coronary syndrome. Clinical information on 1776 patients was collected within a randomised trial conducted across five South Australian EDs between July 2011 and March 2013. Bayes theorem was used to calculate patient-specific post-test probabilities using age- and gender-specific pre-test probabilities and likelihood ratios corresponding to the presence or absence of 18 clinical factors. Model performance was assessed as the presence of adverse cardiac outcomes among patients theoretically discharged at a post-test probability less than 1%. Bayes theorem-based models containing high-sensitivity troponin T (hs-troponin) outperformed models excluding hs-troponin, as well as models utilising TIMI and GRACE scores. In models containing hs-troponin, a plateau in improving discharge safety was observed after the inclusion of four clinical factors. Models with fewer clinical factors better approximated the true event rate, tended to be safer and resulted in a smaller standard deviation in post-test probability estimates. We showed that there is a definable point where additional information becomes uninformative and may actually lead to less certainty. This evidence supports the concept that clinical decision-making in the assessment of suspected acute coronary syndrome should be focused on obtaining the least amount of information that provides the highest benefit for informing the decisions of admission or discharge. © 2017 Australasian College for Emergency Medicine and Australasian Society for Emergency Medicine.

Is probability of frequency too narrow?

International Nuclear Information System (INIS)

Martz, H.F.

1993-01-01

Modern methods of statistical data analysis, such as empirical and hierarchical Bayesian methods, should find increasing use in future Probabilistic Risk Assessment (PRA) applications. In addition, there will be a more formalized use of expert judgment in future PRAs. These methods require an extension of the probabilistic framework of PRA, in particular, the popular notion of probability of frequency, to consideration of frequency of frequency, frequency of probability, and probability of probability. The genesis, interpretation, and examples of these three extended notions are discussed

Superior Mesenteric Artery Syndrome or Wilkie Syndrome

International Nuclear Information System (INIS)

Castano Llano, Rodrigo; Chams Anturi, Abraham; Arango Vargas, Paula

2009-01-01

We described three cases of superior mesenteric artery (SMA) syndrome, also known as Wilkie's syndrome, chronic duodenal ileus, or cast syndrome. This syndrome occurs when the third portion of the duodenum is compressed between the SMA and the aorta. The major risk factors for development of SMA syndrome are rapid weight loss and surgical correction of spinal deformities. The clinical presentation of SMA syndrome is variable and nonspecific, including nausea, vomiting, abdominal pain, and weight loss. The diagnosis is based on endoscopic, radiographic and tomographic findings of duodenal compression by the SMA. The treatment of SMA syndrome is aimed at the precipitating factor, which usually is related to weight loss. Therefore, conservative therapy with nutritional supplementation is the initial approach, and surgery is reserved for those who do not respond to nutritional therapy.

An Alternative Version of Conditional Probabilities and Bayes' Rule: An Application of Probability Logic

Science.gov (United States)

Satake, Eiki; Amato, Philip P.

2008-01-01

This paper presents an alternative version of formulas of conditional probabilities and Bayes' rule that demonstrate how the truth table of elementary mathematical logic applies to the derivations of the conditional probabilities of various complex, compound statements. This new approach is used to calculate the prior and posterior probabilities…

Pilot Study of Blood Pressure in Girls With Turner Syndrome: An Awareness Gap, Clinical Associations, and New Hypotheses.

Science.gov (United States)

Los, Evan; Quezada, Emilio; Chen, Zunqiu; Lapidus, Jodi; Silberbach, Michael

2016-07-01

Cardiovascular disease is the major factor that reduces lifespan in Turner syndrome. High blood pressure (BP) is common in Turner syndrome and is the most easily treatable cardiovascular risk factor. We studied the prevalence of elevated screening systemic BP, awareness of the problem, and its clinical associations in a large group of girls attending the annual meeting of the Turner Syndrome Society of the United States. Among 168 girls aged 2 to 17 years, 42% had elevated screening BP (systolic and diastolic), yet only 8% reported a previous diagnosis of hypertension. History of aortic coarctation repair (17%) was positively associated with elevated systolic BP (52% versus 32%; PTurner syndrome phenotype/genotype probably includes an intrinsic risk for hypertension. Obesity and repaired aortic coarctation increase this risk further. There seems to be a BP awareness gap in girls with Turner syndrome. Because girls living with Turner syndrome are a sensitized population for hypertension, further study may provide clues to genetic factors leading to a better understanding of essential hypertension in the general population. © 2016 American Heart Association, Inc.

Normal probability plots with confidence.

Science.gov (United States)

Chantarangsi, Wanpen; Liu, Wei; Bretz, Frank; Kiatsupaibul, Seksan; Hayter, Anthony J; Wan, Fang

2015-01-01

Normal probability plots are widely used as a statistical tool for assessing whether an observed simple random sample is drawn from a normally distributed population. The users, however, have to judge subjectively, if no objective rule is provided, whether the plotted points fall close to a straight line. In this paper, we focus on how a normal probability plot can be augmented by intervals for all the points so that, if the population distribution is normal, then all the points should fall into the corresponding intervals simultaneously with probability 1-α. These simultaneous 1-α probability intervals provide therefore an objective mean to judge whether the plotted points fall close to the straight line: the plotted points fall close to the straight line if and only if all the points fall into the corresponding intervals. The powers of several normal probability plot based (graphical) tests and the most popular nongraphical Anderson-Darling and Shapiro-Wilk tests are compared by simulation. Based on this comparison, recommendations are given in Section 3 on which graphical tests should be used in what circumstances. An example is provided to illustrate the methods. © 2014 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

Free probability and random matrices

CERN Document Server

Mingo, James A

2017-01-01

This volume opens the world of free probability to a wide variety of readers. From its roots in the theory of operator algebras, free probability has intertwined with non-crossing partitions, random matrices, applications in wireless communications, representation theory of large groups, quantum groups, the invariant subspace problem, large deviations, subfactors, and beyond. This book puts a special emphasis on the relation of free probability to random matrices, but also touches upon the operator algebraic, combinatorial, and analytic aspects of the theory. The book serves as a combination textbook/research monograph, with self-contained chapters, exercises scattered throughout the text, and coverage of important ongoing progress of the theory. It will appeal to graduate students and all mathematicians interested in random matrices and free probability from the point of view of operator algebras, combinatorics, analytic functions, or applications in engineering and statistical physics.

Beals Syndrome

Science.gov (United States)

... the syndrome. How does Beals syndrome compare with Marfan syndrome? People with Beals syndrome have many of the ... bone) and aortic enlargement problems as people with Marfan syndrome, and treatments for these problems are the same. ...

Probability with applications and R

CERN Document Server

Dobrow, Robert P

2013-01-01

An introduction to probability at the undergraduate level Chance and randomness are encountered on a daily basis. Authored by a highly qualified professor in the field, Probability: With Applications and R delves into the theories and applications essential to obtaining a thorough understanding of probability. With real-life examples and thoughtful exercises from fields as diverse as biology, computer science, cryptology, ecology, public health, and sports, the book is accessible for a variety of readers. The book's emphasis on simulation through the use of the popular R software language c

A philosophical essay on probabilities

CERN Document Server

Laplace, Marquis de

1996-01-01

A classic of science, this famous essay by ""the Newton of France"" introduces lay readers to the concepts and uses of probability theory. It is of especial interest today as an application of mathematical techniques to problems in social and biological sciences.Generally recognized as the founder of the modern phase of probability theory, Laplace here applies the principles and general results of his theory ""to the most important questions of life, which are, in effect, for the most part, problems in probability."" Thus, without the use of higher mathematics, he demonstrates the application

Alternative probability theories for cognitive psychology.

Science.gov (United States)

Narens, Louis

2014-01-01

Various proposals for generalizing event spaces for probability functions have been put forth in the mathematical, scientific, and philosophic literatures. In cognitive psychology such generalizations are used for explaining puzzling results in decision theory and for modeling the influence of context effects. This commentary discusses proposals for generalizing probability theory to event spaces that are not necessarily boolean algebras. Two prominent examples are quantum probability theory, which is based on the set of closed subspaces of a Hilbert space, and topological probability theory, which is based on the set of open sets of a topology. Both have been applied to a variety of cognitive situations. This commentary focuses on how event space properties can influence probability concepts and impact cognitive modeling. Copyright © 2013 Cognitive Science Society, Inc.

Probability theory and mathematical statistics for engineers

CERN Document Server

Pugachev, V S

1984-01-01

Probability Theory and Mathematical Statistics for Engineers focuses on the concepts of probability theory and mathematical statistics for finite-dimensional random variables.The publication first underscores the probabilities of events, random variables, and numerical characteristics of random variables. Discussions focus on canonical expansions of random vectors, second-order moments of random vectors, generalization of the density concept, entropy of a distribution, direct evaluation of probabilities, and conditional probabilities. The text then examines projections of random vector

Introduction to probability theory with contemporary applications

CERN Document Server

Helms, Lester L

2010-01-01

This introduction to probability theory transforms a highly abstract subject into a series of coherent concepts. Its extensive discussions and clear examples, written in plain language, expose students to the rules and methods of probability. Suitable for an introductory probability course, this volume requires abstract and conceptual thinking skills and a background in calculus.Topics include classical probability, set theory, axioms, probability functions, random and independent random variables, expected values, and covariance and correlations. Additional subjects include stochastic process

Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11.

Science.gov (United States)

Kimberling, W J; Möller, C G; Davenport, S; Priluck, I A; Beighton, P H; Greenberg, J; Reardon, W; Weston, M D; Kenyon, J B; Grunkemeyer, J A

1992-12-01

Usher syndrome is the most commonly recognized cause of combined visual and hearing loss in technologically developed countries. There are several different types and all are inherited in an autosomal recessive manner. There may be as many as five different genes responsible for at least two closely related phenotypes. The nature of the gene defects is unknown, and positional cloning strategies are being employed to identify the genes. This is a report of the localization of one gene for Usher syndrome type I to chromosome 11q, probably distal to marker D11S527. Another USH1 gene had been previously localized to chromosome 14q, and this second localization establishes the existence of a new and independent locus for Usher syndrome.

Probability in quantum mechanics

Directory of Open Access Journals (Sweden)

J. G. Gilson

1982-01-01

Full Text Available By using a fluid theory which is an alternative to quantum theory but from which the latter can be deduced exactly, the long-standing problem of how quantum mechanics is related to stochastic processes is studied. It can be seen how the Schrödinger probability density has a relationship to time spent on small sections of an orbit, just as the probability density has in some classical contexts.

Pre-Service Teachers' Conceptions of Probability

Science.gov (United States)

Odafe, Victor U.

2011-01-01

Probability knowledge and skills are needed in science and in making daily decisions that are sometimes made under uncertain conditions. Hence, there is the need to ensure that the pre-service teachers of our children are well prepared to teach probability. Pre-service teachers' conceptions of probability are identified, and ways of helping them…

Six weeks of structured exercise training and hypocaloric diet increases the probability of ovulation after clomiphene citrate in overweight and obese patients with polycystic ovary syndrome: a randomized controlled trial.

Science.gov (United States)

Palomba, S; Falbo, A; Giallauria, F; Russo, T; Rocca, M; Tolino, A; Zullo, F; Orio, F

2010-11-01

Clomiphene citrate (CC) is the first-line therapy for the induction of ovulation in infertile women with polycystic ovary syndrome (PCOS), but ∼20% of patients are unresponsive. The aim of the current study was to test the hypothesis that a 6-week intervention that consisted of structured exercise training (SET) and hypocaloric diet increases the probability of ovulation after CC in overweight and obese CC-resistant PCOS patients. A cohort of 96 overweight and obese CC-resistant PCOS patients was enrolled consecutively in a three-arm randomized, parallel, controlled, assessor-blinded clinical trial. The three interventions were: SET plus hypocaloric diet for 6 weeks (Group A); 2 weeks of observation followed by one cycle of CC therapy (Group B); and SET plus hypocaloric diet for 6 weeks, with one cycle of CC after the first 2 weeks (Group C). The primary end-point was the ovulation rate. Other reproductive data, as well as anthropometric, hormonal and metabolic data, were also collected and considered as secondary end points. After 6 weeks of SET plus hypocaloric diet, the ovulation rate was significantly (P =0.008) higher in Group C [12/32 (37.5%)] than in Groups A [4/32 (12.5%)] and B [3/32 (9.4%)] with relative risks of 3.9 [95% confidence interval (CI) 1.1-8.3; P = 0.035] and 4.0 (95% CI 1.2-12.8; P = 0.020) compared with Groups A and B, respectively. Compared with baseline, in Groups A and C, a significant improvement in clinical and biochemical androgen and insulin sensitivity indexes was observed. In the same two groups, the insulin sensitivity index was significantly (P hypocaloric diet was effective in increasing the probability of ovulation under CC treatment. The study was registered at Clinicaltrials.gov:NCT0100468.

Nuclear data uncertainties: I, Basic concepts of probability

Energy Technology Data Exchange (ETDEWEB)

Smith, D.L.

1988-12-01

Some basic concepts of probability theory are presented from a nuclear-data perspective, in order to provide a foundation for thorough understanding of the role of uncertainties in nuclear data research. Topics included in this report are: events, event spaces, calculus of events, randomness, random variables, random-variable distributions, intuitive and axiomatic probability, calculus of probability, conditional probability and independence, probability distributions, binomial and multinomial probability, Poisson and interval probability, normal probability, the relationships existing between these probability laws, and Bayes' theorem. This treatment emphasizes the practical application of basic mathematical concepts to nuclear data research, and it includes numerous simple examples. 34 refs.

Nuclear data uncertainties: I, Basic concepts of probability

International Nuclear Information System (INIS)

Smith, D.L.

1988-12-01

Some basic concepts of probability theory are presented from a nuclear-data perspective, in order to provide a foundation for thorough understanding of the role of uncertainties in nuclear data research. Topics included in this report are: events, event spaces, calculus of events, randomness, random variables, random-variable distributions, intuitive and axiomatic probability, calculus of probability, conditional probability and independence, probability distributions, binomial and multinomial probability, Poisson and interval probability, normal probability, the relationships existing between these probability laws, and Bayes' theorem. This treatment emphasizes the practical application of basic mathematical concepts to nuclear data research, and it includes numerous simple examples. 34 refs

Economic choices reveal probability distortion in macaque monkeys.

Science.gov (United States)

Stauffer, William R; Lak, Armin; Bossaerts, Peter; Schultz, Wolfram

2015-02-18

Economic choices are largely determined by two principal elements, reward value (utility) and probability. Although nonlinear utility functions have been acknowledged for centuries, nonlinear probability weighting (probability distortion) was only recently recognized as a ubiquitous aspect of real-world choice behavior. Even when outcome probabilities are known and acknowledged, human decision makers often overweight low probability outcomes and underweight high probability outcomes. Whereas recent studies measured utility functions and their corresponding neural correlates in monkeys, it is not known whether monkeys distort probability in a manner similar to humans. Therefore, we investigated economic choices in macaque monkeys for evidence of probability distortion. We trained two monkeys to predict reward from probabilistic gambles with constant outcome values (0.5 ml or nothing). The probability of winning was conveyed using explicit visual cues (sector stimuli). Choices between the gambles revealed that the monkeys used the explicit probability information to make meaningful decisions. Using these cues, we measured probability distortion from choices between the gambles and safe rewards. Parametric modeling of the choices revealed classic probability weighting functions with inverted-S shape. Therefore, the animals overweighted low probability rewards and underweighted high probability rewards. Empirical investigation of the behavior verified that the choices were best explained by a combination of nonlinear value and nonlinear probability distortion. Together, these results suggest that probability distortion may reflect evolutionarily preserved neuronal processing. Copyright © 2015 Stauffer et al.

Empty sella syndrome secondary to intrasellar cyst in adolescence.

Science.gov (United States)

Raiti, S; Albrink, M J; Maclaren, N K; Chadduck, W M; Gabriele, O F; Chou, S M

1976-09-01

A 15-year-old boy had growth failure and failure of sexual development. The probable onset was at age 10. Endocrine studies showed hypopituitarism with deficiency of growth hormone and follicle-stimulating hormone, an abnormal response to metyrapone, and deficiency of thyroid function. Luteinizing hormone level was in the low-normal range. Posterior pituitary function was normal. Roentgenogram showed a large sella with some destruction of the posterior clinoids. Transsphenoidal exploration was carried out. The sella was empty except for a whitish membrane; no pituitary tissue was seen. The sella was packed with muscle. Recovery was uneventful, and the patient was given replacement therapy. On histologic examination,the cyst wall showed low pseudostratified cuboidal epithelium and occasional squamous metaplasia. Hemosiderin-filled phagocytes and acinar structures were also seen. The diagnosis was probable rupture of an intrasellar epithelial cyst, leading to empty sella syndrome.

Goltz syndrome: A newborn with ectrodactyly and skin lesions

Directory of Open Access Journals (Sweden)

Shatanik Sarkar

2015-01-01

Full Text Available Goltz syndrome or Focal Dermal Hypoplasia is a rare multisystem disorder, involving all the three germ cell layers. The disease is thought to be inherited in X-linked dominant fashion with heterogeneous mutations of the PORCN gene at Xp11.23 locus. Majority of the cases are sporadic, mainly due to postzygotic somatic mutations. The clinical spectrum includes characteristic cutaneous manifestations, multiple skeletal anomalies, and involvement of the eyes, hair, nails, kidneys, and so on. Considerable variability is noted in the clinical expression of the disease probably due to genomic mosaicism. Around 300 cases of Goltz syndrome have been reported in the literature. Here, we report such a case with characteristic skin lesions, multiple bony defects, distinctive facial features, coloboma of iris, and bilateral hydronephrosis. The diagnosis was evident immediately after birth due to the characteristic clinical picture of the baby.

Expected utility with lower probabilities

DEFF Research Database (Denmark)

Hendon, Ebbe; Jacobsen, Hans Jørgen; Sloth, Birgitte

1994-01-01

An uncertain and not just risky situation may be modeled using so-called belief functions assigning lower probabilities to subsets of outcomes. In this article we extend the von Neumann-Morgenstern expected utility theory from probability measures to belief functions. We use this theory...

Carpal tunnel syndrome: a complication of arteriovenous fistula in hemodialysis patients.

Science.gov (United States)

Kumar, S.; Trivedi, H. L.; Smith, E. K.

1975-01-01

Symptoms of compression of the median nerve in the carpal tunnel developed in two patients in whom an arteriovenous fistula was created to alleviate chronic renal failure through hemodialysis. Anatomic changes in the wrist area due to the fistula are probably important in the development of this syndrome, and pre-existing uremic peripheral polyneuropathy may also be important in the early development of local symptoms of nerve damage. Images FIG. 1 PMID:1201544

Striatal activity is modulated by target probability.

Science.gov (United States)

Hon, Nicholas

2017-06-14

Target probability has well-known neural effects. In the brain, target probability is known to affect frontal activity, with lower probability targets producing more prefrontal activation than those that occur with higher probability. Although the effect of target probability on cortical activity is well specified, its effect on subcortical structures such as the striatum is less well understood. Here, I examined this issue and found that the striatum was highly responsive to target probability. This is consistent with its hypothesized role in the gating of salient information into higher-order task representations. The current data are interpreted in light of that fact that different components of the striatum are sensitive to different types of task-relevant information.

Burning mouth syndrome: A review on its diagnostic and therapeutic approach

Directory of Open Access Journals (Sweden)

R Aravindhan

2014-01-01

Full Text Available Burning mouth syndrome (BMS, a chronic and intractable orofacial pain syndrome is characterized by the presence of burning sensation of the oral mucosa in the absence of specific oral lesion. This condition affects chiefly of middle aged and elderly woman with hormonal changes or psychological disorders. In addition to burning sensation, patient with BMS also complains of oral mucosal pain, altered taste sensation, and dry mouth. This condition is probably of multifactorial origin, often idiopathic and its exact etiopathogenesis remains unclear. So far, there is no definitive cure for this condition and most of the treatment approaches, medications remains unsatisfactory. An interdisciplinary and systematic approach is required for better patient management. The purpose of this article is to present a review of epidemiology, clinical presentation, classification, etiopathogenesis, diagnosis and management of BMS.

Burning mouth syndrome: A review on its diagnostic and therapeutic approach

Science.gov (United States)

Aravindhan, R.; Vidyalakshmi, Santhanam; Kumar, Muniapillai Siva; Satheesh, C.; Balasubramanium, A. Murali; Prasad, V. Srinivas

2014-01-01

Burning mouth syndrome (BMS), a chronic and intractable orofacial pain syndrome is characterized by the presence of burning sensation of the oral mucosa in the absence of specific oral lesion. This condition affects chiefly of middle aged and elderly woman with hormonal changes or psychological disorders. In addition to burning sensation, patient with BMS also complains of oral mucosal pain, altered taste sensation, and dry mouth. This condition is probably of multifactorial origin, often idiopathic and its exact etiopathogenesis remains unclear. So far, there is no definitive cure for this condition and most of the treatment approaches, medications remains unsatisfactory. An interdisciplinary and systematic approach is required for better patient management. The purpose of this article is to present a review of epidemiology, clinical presentation, classification, etiopathogenesis, diagnosis and management of BMS. PMID:25210377

Failure probability analysis of optical grid

Science.gov (United States)

Zhong, Yaoquan; Guo, Wei; Sun, Weiqiang; Jin, Yaohui; Hu, Weisheng

2008-11-01

Optical grid, the integrated computing environment based on optical network, is expected to be an efficient infrastructure to support advanced data-intensive grid applications. In optical grid, the faults of both computational and network resources are inevitable due to the large scale and high complexity of the system. With the optical network based distributed computing systems extensive applied in the processing of data, the requirement of the application failure probability have been an important indicator of the quality of application and an important aspect the operators consider. This paper will present a task-based analysis method of the application failure probability in optical grid. Then the failure probability of the entire application can be quantified, and the performance of reducing application failure probability in different backup strategies can be compared, so that the different requirements of different clients can be satisfied according to the application failure probability respectively. In optical grid, when the application based DAG (directed acyclic graph) is executed in different backup strategies, the application failure probability and the application complete time is different. This paper will propose new multi-objective differentiated services algorithm (MDSA). New application scheduling algorithm can guarantee the requirement of the failure probability and improve the network resource utilization, realize a compromise between the network operator and the application submission. Then differentiated services can be achieved in optical grid.

Application of Massively Parallel Sequencing in the Clinical Diagnostic Testing of Inherited Cardiac Conditions

Directory of Open Access Journals (Sweden)

Ivone U. S. Leong

2014-06-01

Full Text Available Sudden cardiac death in people between the ages of 1–40 years is a devastating event and is frequently caused by several heritable cardiac disorders. These disorders include cardiac ion channelopathies, such as long QT syndrome, catecholaminergic polymorphic ventricular tachycardia and Brugada syndrome and cardiomyopathies, such as hypertrophic cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy. Through careful molecular genetic evaluation of DNA from sudden death victims, the causative gene mutation can be uncovered, and the rest of the family can be screened and preventative measures implemented in at-risk individuals. The current screening approach in most diagnostic laboratories uses Sanger-based sequencing; however, this method is time consuming and labour intensive. The development of massively parallel sequencing has made it possible to produce millions of sequence reads simultaneously and is potentially an ideal approach to screen for mutations in genes that are associated with sudden cardiac death. This approach offers mutation screening at reduced cost and turnaround time. Here, we will review the current commercially available enrichment kits, massively parallel sequencing (MPS platforms, downstream data analysis and its application to sudden cardiac death in a diagnostic environment.

Voltage-Gated Sodium Channel β1/β1B Subunits Regulate Cardiac Physiology and Pathophysiology

Directory of Open Access Journals (Sweden)

Nnamdi Edokobi

2018-04-01

Full Text Available Cardiac myocyte contraction is initiated by a set of intricately orchestrated electrical impulses, collectively known as action potentials (APs. Voltage-gated sodium channels (NaVs are responsible for the upstroke and propagation of APs in excitable cells, including cardiomyocytes. NaVs consist of a single, pore-forming α subunit and two different β subunits. The β subunits are multifunctional cell adhesion molecules and channel modulators that have cell type and subcellular domain specific functional effects. Variants in SCN1B, the gene encoding the Nav-β1 and -β1B subunits, are linked to atrial and ventricular arrhythmias, e.g., Brugada syndrome, as well as to the early infantile epileptic encephalopathy Dravet syndrome, all of which put patients at risk for sudden death. Evidence over the past two decades has demonstrated that Nav-β1/β1B subunits play critical roles in cardiac myocyte physiology, in which they regulate tetrodotoxin-resistant and -sensitive sodium currents, potassium currents, and calcium handling, and that Nav-β1/β1B subunit dysfunction generates substrates for arrhythmias. This review will highlight the role of Nav-β1/β1B subunits in cardiac physiology and pathophysiology.

The role of tendinitis in fibromyalgia syndrome.

Science.gov (United States)

Genç, Hakan; Saracoğlu, Meryem; Duyur, Burcu; Erdem, Hatice Rana

2003-08-30

Fibromyalgia Syndrome (FS) is a common disease characterized by diffuse, widespread pain and multiple tender points. The syndrome has been subclassified as primary (PFS) and secondary (SFS) fibromyalgia. The aim of this study was to evaluate the role of common tendinitis (rotator cuff tendinitis, bicipital tendinitis, lateral epicondylitis, De-Quervain's tendinitis and pes anserinus tendinitis) in FS. Twenty female patients with PFS, 20 with SFS and 20 female controls, matched by age and body mass index, participated in the study. Existence of common tendinitis was evaluated with specific examination methods. Right and left rotator cuff tendinitis, pes anserinus tendinitis and left lateral epicondylitis were significantly more common in patients with PFS and SFS than in control subjects. As a result, considering the central hyperexcitability present in the fibromyalgia patients, concomitant pathologies such as tendinitis which lead to shoulder, arm, and leg pain must be evaluated. Follow up and therapy for the disease must be planned according to these factors which are not only probable symptoms of FS, but also leading causes for the occurrence and continuity of the pain in this disease.

Bone imaging of the heel in Reiter's syndrome. [/sup 99m/Tc-pyrophosphate

Energy Technology Data Exchange (ETDEWEB)

Khalkhali, I. (Univ. of California, Sacramento); Stadalnik, R.C.; Wiesner, K.B.; Shapiro, R.F.

1979-01-01

Classic Reiter's syndrome, which affects young adult males, is characterized by arthritis, conjunctivitis, and nongonococcal urethritis. Other features of probably equal significance include circinate balanitis, shallow ulcerations of the buccal mucosa, and a dermatitis. Reiter's arthritis is usually asymmetrical and tends to involve lower extremity joints. Talalgia, or heel pain, is an often underrated characteristic feature of the arthritis. With an incidence of 50% talalgia can be localized to either the posterior aspect of the heel or to the plantar surface of the heel. Radiographic alterations in these regions are common in patients with recurrent or chronic disease, but are infrequent or minimal in patients with acute Reiter's syndrome. Recent observation of a young male with Reiter's syndrome suggests that bone imaging may help substantiate this clinical feature before radiography reveals calcaneal spurs.

Serotonin syndrome

Science.gov (United States)

Hyperserotonemia; Serotonergic syndrome; Serotonin toxicity; SSRI - serotonin syndrome; MAO - serotonin syndrome ... brain area. For example, you can develop this syndrome if you take migraine medicines called triptans together ...

An Objective Theory of Probability (Routledge Revivals)

CERN Document Server

Gillies, Donald

2012-01-01

This reissue of D. A. Gillies highly influential work, first published in 1973, is a philosophical theory of probability which seeks to develop von Mises' views on the subject. In agreement with von Mises, the author regards probability theory as a mathematical science like mechanics or electrodynamics, and probability as an objective, measurable concept like force, mass or charge. On the other hand, Dr Gillies rejects von Mises' definition of probability in terms of limiting frequency and claims that probability should be taken as a primitive or undefined term in accordance with modern axioma

Fundamentals of applied probability and random processes

CERN Document Server

Ibe, Oliver

2014-01-01

The long-awaited revision of Fundamentals of Applied Probability and Random Processes expands on the central components that made the first edition a classic. The title is based on the premise that engineers use probability as a modeling tool, and that probability can be applied to the solution of engineering problems. Engineers and students studying probability and random processes also need to analyze data, and thus need some knowledge of statistics. This book is designed to provide students with a thorough grounding in probability and stochastic processes, demonstrate their applicability t

[Association Budd Chiari syndrome, antiphospholipid syndrome and Grave's disease].

Science.gov (United States)

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.

Duane Syndrome

Science.gov (United States)

... Frequently Asked Questions Español Condiciones Chinese Conditions Duane Syndrome En Español Read in Chinese What is Duane Syndrome? Duane syndrome, also called Duane retraction syndrome (DRS), ...

Defining Probability in Sex Offender Risk Assessment.

Science.gov (United States)

Elwood, Richard W

2016-12-01

There is ongoing debate and confusion over using actuarial scales to predict individuals' risk of sexual recidivism. Much of the debate comes from not distinguishing Frequentist from Bayesian definitions of probability. Much of the confusion comes from applying Frequentist probability to individuals' risk. By definition, only Bayesian probability can be applied to the single case. The Bayesian concept of probability resolves most of the confusion and much of the debate in sex offender risk assessment. Although Bayesian probability is well accepted in risk assessment generally, it has not been widely used to assess the risk of sex offenders. I review the two concepts of probability and show how the Bayesian view alone provides a coherent scheme to conceptualize individuals' risk of sexual recidivism.

UT Biomedical Informatics Lab (BMIL) probability wheel

Science.gov (United States)

Huang, Sheng-Cheng; Lee, Sara; Wang, Allen; Cantor, Scott B.; Sun, Clement; Fan, Kaili; Reece, Gregory P.; Kim, Min Soon; Markey, Mia K.

A probability wheel app is intended to facilitate communication between two people, an "investigator" and a "participant", about uncertainties inherent in decision-making. Traditionally, a probability wheel is a mechanical prop with two colored slices. A user adjusts the sizes of the slices to indicate the relative value of the probabilities assigned to them. A probability wheel can improve the adjustment process and attenuate the effect of anchoring bias when it is used to estimate or communicate probabilities of outcomes. The goal of this work was to develop a mobile application of the probability wheel that is portable, easily available, and more versatile. We provide a motivating example from medical decision-making, but the tool is widely applicable for researchers in the decision sciences.

Quantum computing and probability.

Science.gov (United States)

Ferry, David K

2009-11-25

Over the past two decades, quantum computing has become a popular and promising approach to trying to solve computationally difficult problems. Missing in many descriptions of quantum computing is just how probability enters into the process. Here, we discuss some simple examples of how uncertainty and probability enter, and how this and the ideas of quantum computing challenge our interpretations of quantum mechanics. It is found that this uncertainty can lead to intrinsic decoherence, and this raises challenges for error correction.

Quantum computing and probability

International Nuclear Information System (INIS)

Ferry, David K

2009-01-01

Over the past two decades, quantum computing has become a popular and promising approach to trying to solve computationally difficult problems. Missing in many descriptions of quantum computing is just how probability enters into the process. Here, we discuss some simple examples of how uncertainty and probability enter, and how this and the ideas of quantum computing challenge our interpretations of quantum mechanics. It is found that this uncertainty can lead to intrinsic decoherence, and this raises challenges for error correction. (viewpoint)

Wells syndrome and its relationship to Churg-Strauss syndrome.

Science.gov (United States)

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.

Goldenhar Syndrome in Association with Duane Syndrome

Directory of Open Access Journals (Sweden)

U D Shrestha

2012-03-01

Full Text Available Goldenhar syndrome (GHS is also known as Oculo-Auriculo-Vertebral (OAV syndrome or Branchial arch syndrome. Duane retraction syndrome (DRS is a congenital disorder of ocular motility characterized by limited abduction, adduction or both. It is unilateral in 80% of cases. The important and interesting part of this eight months old child is presence of GHS with DRS. She has bilateral invol-vement, which is seen in only 5-8% of GHS, as compared to high incidence of unilateral involve-ment. This child also had refractive error of + 6.00/ - 1.5 * 180. At four year of age her vision with glass was 6/9. Children with GHS and DRS should have early eye examination done to treat the problem of refractive error. Keywords: Duane retraction syndrome; goldenhar syndrome, refractive error.

[Biometric bases: basic concepts of probability calculation].

Science.gov (United States)

Dinya, E

1998-04-26

The author gives or outline of the basic concepts of probability theory. The bases of the event algebra, definition of the probability, the classical probability model and the random variable are presented.

Pre-aggregation for Probability Distributions

DEFF Research Database (Denmark)

Timko, Igor; Dyreson, Curtis E.; Pedersen, Torben Bach

Motivated by the increasing need to analyze complex uncertain multidimensional data (e.g., in order to optimize and personalize location-based services), this paper proposes novel types of {\\em probabilistic} OLAP queries that operate on aggregate values that are probability distributions...... and the techniques to process these queries. The paper also presents the methods for computing the probability distributions, which enables pre-aggregation, and for using the pre-aggregated distributions for further aggregation. In order to achieve good time and space efficiency, the methods perform approximate...... multidimensional data analysis that is considered in this paper (i.e., approximate processing of probabilistic OLAP queries over probability distributions)....

Contributions to quantum probability

International Nuclear Information System (INIS)

Fritz, Tobias

2010-01-01

Chapter 1: On the existence of quantum representations for two dichotomic measurements. Under which conditions do outcome probabilities of measurements possess a quantum-mechanical model? This kind of problem is solved here for the case of two dichotomic von Neumann measurements which can be applied repeatedly to a quantum system with trivial dynamics. The solution uses methods from the theory of operator algebras and the theory of moment problems. The ensuing conditions reveal surprisingly simple relations between certain quantum-mechanical probabilities. It also shown that generally, none of these relations holds in general probabilistic models. This result might facilitate further experimental discrimination between quantum mechanics and other general probabilistic theories. Chapter 2: Possibilistic Physics. I try to outline a framework for fundamental physics where the concept of probability gets replaced by the concept of possibility. Whereas a probabilistic theory assigns a state-dependent probability value to each outcome of each measurement, a possibilistic theory merely assigns one of the state-dependent labels ''possible to occur'' or ''impossible to occur'' to each outcome of each measurement. It is argued that Spekkens' combinatorial toy theory of quantum mechanics is inconsistent in a probabilistic framework, but can be regarded as possibilistic. Then, I introduce the concept of possibilistic local hidden variable models and derive a class of possibilistic Bell inequalities which are violated for the possibilistic Popescu-Rohrlich boxes. The chapter ends with a philosophical discussion on possibilistic vs. probabilistic. It can be argued that, due to better falsifiability properties, a possibilistic theory has higher predictive power than a probabilistic one. Chapter 3: The quantum region for von Neumann measurements with postselection. It is determined under which conditions a probability distribution on a finite set can occur as the outcome

Probability inequalities for decomposition integrals

Czech Academy of Sciences Publication Activity Database

Agahi, H.; Mesiar, Radko

2017-01-01

Roč. 315, č. 1 (2017), s. 240-248 ISSN 0377-0427 Institutional support: RVO:67985556 Keywords : Decomposition integral * Superdecomposition integral * Probability inequalities Subject RIV: BA - General Mathematics OBOR OECD: Statistics and probability Impact factor: 1.357, year: 2016 http://library.utia.cas.cz/separaty/2017/E/mesiar-0470959.pdf

Probability, conditional probability and complementary cumulative distribution functions in performance assessment for radioactive waste disposal

International Nuclear Information System (INIS)

Helton, J.C.

1996-03-01

A formal description of the structure of several recent performance assessments (PAs) for the Waste Isolation Pilot Plant (WIPP) is given in terms of the following three components: a probability space (S st , S st , p st ) for stochastic uncertainty, a probability space (S su , S su , p su ) for subjective uncertainty and a function (i.e., a random variable) defined on the product space associated with (S st , S st , p st ) and (S su , S su , p su ). The explicit recognition of the existence of these three components allows a careful description of the use of probability, conditional probability and complementary cumulative distribution functions within the WIPP PA. This usage is illustrated in the context of the U.S. Environmental Protection Agency's standard for the geologic disposal of radioactive waste (40 CFR 191, Subpart B). The paradigm described in this presentation can also be used to impose a logically consistent structure on PAs for other complex systems

Probability, conditional probability and complementary cumulative distribution functions in performance assessment for radioactive waste disposal

International Nuclear Information System (INIS)

Helton, J.C.

1996-01-01

A formal description of the structure of several recent performance assessments (PAs) for the Waste Isolation Pilot Plant (WIPP) is given in terms of the following three components: a probability space (S st , L st , P st ) for stochastic uncertainty, a probability space (S su , L su , P su ) for subjective uncertainty and a function (i.e., a random variable) defined on the product space associated with (S st , L st , P st ) and (S su , L su , P su ). The explicit recognition of the existence of these three components allows a careful description of the use of probability, conditional probability and complementary cumulative distribution functions within the WIPP PA. This usage is illustrated in the context of the US Environmental Protection Agency's standard for the geologic disposal of radioactive waste (40 CFR 191, Subpart B). The paradigm described in this presentation can also be used to impose a logically consistent structure on PAs for other complex systems

Achalasia in a Patient with Polyglandular Autoimmune Syndrome Type II

Directory of Open Access Journals (Sweden)

Bashar S. Amr

2015-05-01

Full Text Available Achalasia is a rare disease characterized by aperistalsis of the esophageal body and failure of the lower esophageal sphincter to relax. The etiology of this disease remains unknown. Polyglandular autoimmune syndrome type II is a well-identified disease characterized by the occurrence of autoimmune Addison's disease in combination with autoimmune thyroid disease and/or type 1 diabetes mellitus. We report a case that suggests autoimmunity and immunogenicity as a probable contributing factor for association of these two rare disorders.

Void probability scaling in hadron nucleus interactions

International Nuclear Information System (INIS)

Ghosh, Dipak; Deb, Argha; Bhattacharyya, Swarnapratim; Ghosh, Jayita; Bandyopadhyay, Prabhat; Das, Rupa; Mukherjee, Sima

2002-01-01

Heygi while investigating with the rapidity gap probability (that measures the chance of finding no particle in the pseudo-rapidity interval Δη) found that a scaling behavior in the rapidity gap probability has a close correspondence with the scaling of a void probability in galaxy correlation study. The main aim in this paper is to study the scaling behavior of the rapidity gap probability

Paraconsistent Probabilities: Consistency, Contradictions and Bayes’ Theorem

Directory of Open Access Journals (Sweden)

Juliana Bueno-Soler

2016-09-01

Full Text Available This paper represents the first steps towards constructing a paraconsistent theory of probability based on the Logics of Formal Inconsistency (LFIs. We show that LFIs encode very naturally an extension of the notion of probability able to express sophisticated probabilistic reasoning under contradictions employing appropriate notions of conditional probability and paraconsistent updating, via a version of Bayes’ theorem for conditionalization. We argue that the dissimilarity between the notions of inconsistency and contradiction, one of the pillars of LFIs, plays a central role in our extended notion of probability. Some critical historical and conceptual points about probability theory are also reviewed.

HUBUNGAN ANTARA HIPERTENSI DENGAN PREMENSTRUAL SYNDROME PADA WANITA USIA REPRODUKTIF

Directory of Open Access Journals (Sweden)

Azhim Rahmawati

2014-08-01

Full Text Available Premenstrual syndrome (PMS is a cycle disorder which is commonly occured during the luteal phase of the menstrual cycle and will dissapear at the time of menstruation. Ninety percent of women on reproductive ages experience symptomps of PMS and 10% of them experience severe premenstrual symptomps that cuse physical disturbance, medical care necessity, even worst death. Hypertension is a risk factor for a PMS. The aim of this research is to find out a conection between PMS and hypertension. This research was designated using analytic observational with cross sectional approach. We used purposive sampling to get sample. Based on sample formula, we got 104 respondents which is consist of 52 women with hypertension and 52 women normotensive. To obtain data, we used shortened premenstrual syndrome assesment form (SPAF. Data collected were analyzed by chi square test. The result showed that the value of p = 0.00 (p<0.005. This result indicated that there is a conection between hypertension and PMS occurence in reproductive age. The probability of hypertension women to get PMS is 6.75. Keywords: Hypertension, Premenstrual Syndrome, reproductive age

Exploring non-signalling polytopes with negative probability

International Nuclear Information System (INIS)

Oas, G; Barros, J Acacio de; Carvalhaes, C

2014-01-01

Bipartite and tripartite EPR–Bell type systems are examined via joint quasi-probability distributions where probabilities are permitted to be negative. It is shown that such distributions exist only when the no-signalling condition is satisfied. A characteristic measure, the probability mass, is introduced and, via its minimization, limits the number of quasi-distributions describing a given marginal probability distribution. The minimized probability mass is shown to be an alternative way to characterize non-local systems. Non-signalling polytopes for two to eight settings in the bipartite scenario are examined and compared to prior work. Examining perfect cloning of non-local systems within the tripartite scenario suggests defining two categories of signalling. It is seen that many properties of non-local systems can be efficiently described by quasi-probability theory. (paper)

Fundamentals of applied probability and random processes

CERN Document Server

Ibe, Oliver

2005-01-01

This book is based on the premise that engineers use probability as a modeling tool, and that probability can be applied to the solution of engineering problems. Engineers and students studying probability and random processes also need to analyze data, and thus need some knowledge of statistics. This book is designed to provide students with a thorough grounding in probability and stochastic processes, demonstrate their applicability to real-world problems, and introduce the basics of statistics. The book''s clear writing style and homework problems make it ideal for the classroom or for self-study.* Good and solid introduction to probability theory and stochastic processes * Logically organized; writing is presented in a clear manner * Choice of topics is comprehensive within the area of probability * Ample homework problems are organized into chapter sections

The enigma of probability and physics

International Nuclear Information System (INIS)

Mayants, L.

1984-01-01

This volume contains a coherent exposition of the elements of two unique sciences: probabilistics (science of probability) and probabilistic physics (application of probabilistics to physics). Proceeding from a key methodological principle, it starts with the disclosure of the true content of probability and the interrelation between probability theory and experimental statistics. This makes is possible to introduce a proper order in all the sciences dealing with probability and, by conceiving the real content of statistical mechanics and quantum mechanics in particular, to construct both as two interconnected domains of probabilistic physics. Consistent theories of kinetics of physical transformations, decay processes, and intramolecular rearrangements are also outlined. The interrelation between the electromagnetic field, photons, and the theoretically discovered subatomic particle 'emon' is considered. Numerous internal imperfections of conventional probability theory, statistical physics, and quantum physics are exposed and removed - quantum physics no longer needs special interpretation. EPR, Bohm, and Bell paradoxes are easily resolved, among others. (Auth.)

F.Y. Edgeworth’s Treatise on Probabilities

OpenAIRE

Alberto Baccini

2007-01-01

Probability theory has a central role in Edgeworth’s thought; this paper examines the philosophical foundation of the theory. Starting from a frequentist position, Edgeworth introduced some innovations on the definition of primitive probabilities. He distinguished between primitive probabilities based on experience of statistical evidence, and primitive a priori probabilities based on a more general and less precise kind of experience, inherited by the human race through evolution. Given prim...

Fanconi syndrome

Science.gov (United States)

De Toni-Fanconi syndrome ... Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown. Common causes of Fanconi syndrome in ...

Diagnostic criteria for congenital long QT syndrome in the era of molecular genetics: Do we need a scoring system?

NARCIS (Netherlands)

Hofman, Nynke; Wilde, Arthur A.M.; Kääb, Stefan; Van Langen, Irene M.; Tanck, Michael W.T.; Mannens, Marcel M.A.M.; Hinterseer, Martin; Beckmann, Britt-Maria; Tan, Hanno L.

2007-01-01

Aims: Previously published diagnostic systems, based on ECG analysis and clinical parameters (Schwartz criteria and Keating criteria), have been used to estimate the probability of inherited long QT syndrome (LQTS). Nowadays, a certain diagnosis can often be made by DNA testing. We aimed to

OCULO-CEREBRO-RENAL SYNDROME (LOWE'S SYNDROME)

Institute of Scientific and Technical Information of China (English)

无

1991-01-01

Oculo-cerebro-renal syndrome (Lowe's syndrome) is characterized by mental and motor retardation, cataract, glaucoma and renal abnormalities. It is an X-linked recessive metabolic disease. Two brothers suffering from Lowe's syndrome are reported. Their mother with lenticular opacities and peculiar facial appearance is in concordance with the obligate carrier. The ocular changes and heridity are discussed.

Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma.

Directory of Open Access Journals (Sweden)

Tullu M

2000-04-01

Full Text Available Neurofibromatosis (NF, Noonan syndrome (NS, and LEOPARD syndrome are all autosomal dominant conditions, each being a distinct clinical entity by itself. Rarely, one encounters cases with features of NF and NS and is termed as the ′Neurofibromatosis-Noonan syndrome′ (NF-NS. The authors report a clinical dilemma with major clinical features of the NF-NS syndrome and LEOPARD syndrome co-existing in the same patient. Also, features of Noonan syndrome and LEOPARD syndrome are compared with the case reported.

Approximation methods in probability theory

CERN Document Server

Čekanavičius, Vydas

2016-01-01

This book presents a wide range of well-known and less common methods used for estimating the accuracy of probabilistic approximations, including the Esseen type inversion formulas, the Stein method as well as the methods of convolutions and triangle function. Emphasising the correct usage of the methods presented, each step required for the proofs is examined in detail. As a result, this textbook provides valuable tools for proving approximation theorems. While Approximation Methods in Probability Theory will appeal to everyone interested in limit theorems of probability theory, the book is particularly aimed at graduate students who have completed a standard intermediate course in probability theory. Furthermore, experienced researchers wanting to enlarge their toolkit will also find this book useful.

Bloom syndrome and maternal uniparental disomy for chromosome 15

Energy Technology Data Exchange (ETDEWEB)

Woodage, T.; Prasad, M.; Trent, R.J.; Smith, A. (Children' s Hospital, Camperdown, New South Wales (New Zealand)); Dixon, J.W.; Romain, D.R.; Columbano-Green, L.M.; Selby, R.E. (Wellington Hospital (New Zealand)); Graham, D. (Waikato Hospital, Hamilton (New Zealand)); Rogan, P.K. (Pennsylvania State Univ., Hershey, PA (United States)) (and others)

1994-07-01

Bloom syndrome (BS) is an autosomal recessive disorder characterized by increases in the frequency of sister-chromatid exchange and in the incidence of malignancy. Chromosome-transfer studies have shown the BS locus to map to chromosome 15q. This report describes a subject with features of both BS and Prader-Willi syndrome (PWS). Molecular analysis showed maternal uniparental disomy for chromosome 15. Meiotic recombination between the two disomic chromosomes 15 has resulted in heterodisomy for proximal 15q and isodisomy for distal 15q. In this individual BS is probably due to homozygosity for a gene that is telomeric to D15S95 (15q25), rather than to genetic imprinting, the mechanism responsible for the development of PWS. This report represents the first application of disomy analysis to the regional localization of a disease gene. This strategy promises to be useful in the genetic mapping of other uncommon autosomal recessive conditions. 37 refs., 3 figs., 2 tabs.

Reversible posterior leucoencephalopathy syndrome associated with bone marrow transplantation.

Science.gov (United States)

Teive, H A; Brandi, I V; Camargo, C H; Bittencourt, M A; Bonfim, C M; Friedrich, M L; de Medeiros, C R; Werneck, L C; Pasquini, R

2001-09-01

Reversible posterior leucoencephalopathy syndrome (RPLS) has previously been described in patients who have renal insufficiency, eclampsia, hypertensive encephalopathy and patients receiving immunosuppressive therapy. The mechanism by which immunosuppressive agents can cause this syndrome is not clear, but it is probably related with cytotoxic effects of these agents on the vascular endothelium. We report eight patients who received cyclosporine A (CSA) after allogeneic bone marrow transplantation or as treatment for severe aplastic anemia (SSA) who developed posterior leucoencephalopathy. The most common signs and symptoms were seizures and headache. Neurological dysfunction occurred preceded by or concomitant with high blood pressure and some degree of acute renal failure in six patients. Computerized tomography studies showed low-density white matter lesions involving the posterior areas of cerebral hemispheres. Symptoms and neuroimaging abnormalities were reversible and improvement occurred in all patients when given lower doses of CSA or when the drug was withdrawn. RPLS may be considered an expression of CSA neurotoxicity.

Introduction to imprecise probabilities

CERN Document Server

Augustin, Thomas; de Cooman, Gert; Troffaes, Matthias C M

2014-01-01

In recent years, the theory has become widely accepted and has been further developed, but a detailed introduction is needed in order to make the material available and accessible to a wide audience. This will be the first book providing such an introduction, covering core theory and recent developments which can be applied to many application areas. All authors of individual chapters are leading researchers on the specific topics, assuring high quality and up-to-date contents. An Introduction to Imprecise Probabilities provides a comprehensive introduction to imprecise probabilities, includin

Classic Problems of Probability

CERN Document Server

Gorroochurn, Prakash

2012-01-01

"A great book, one that I will certainly add to my personal library."—Paul J. Nahin, Professor Emeritus of Electrical Engineering, University of New Hampshire Classic Problems of Probability presents a lively account of the most intriguing aspects of statistics. The book features a large collection of more than thirty classic probability problems which have been carefully selected for their interesting history, the way they have shaped the field, and their counterintuitive nature. From Cardano's 1564 Games of Chance to Jacob Bernoulli's 1713 Golden Theorem to Parrondo's 1996 Perplexin

Testicular dysgenesis syndrome: possible role of endocrine disrupters

DEFF Research Database (Denmark)

Bay, Katrine; Asklund, Camilla; Skakkebaek, Niels E

2006-01-01

. Clinically, the most common manifestation of TDS is probably a reduced sperm concentration, whereas the more severe form may include a high risk of testis cancer. Clinicians should be aware of the interconnection between the different features of TDS, and inclusion of a programme for early detection......The testicular dysgenesis syndrome (TDS) hypothesis proposes that the four conditions cryptorchidism, hypospadias, impaired spermatogenesis and testis cancer may all be manifestations of disturbed prenatal testicular development. The TDS hypothesis is based on epidemiological, clinical...... of testis cancer in the management of infertile men with poor semen quality is recommended....

Testicular dysgenesis syndrome: possible role of endocrine disrupters

DEFF Research Database (Denmark)

Bay, Katrine; Asklund, Camilla; Skakkebaek, Niels E

2006-01-01

The testicular dysgenesis syndrome (TDS) hypothesis proposes that the four conditions cryptorchidism, hypospadias, impaired spermatogenesis and testis cancer may all be manifestations of disturbed prenatal testicular development. The TDS hypothesis is based on epidemiological, clinical....... Clinically, the most common manifestation of TDS is probably a reduced sperm concentration, whereas the more severe form may include a high risk of testis cancer. Clinicians should be aware of the interconnection between the different features of TDS, and inclusion of a programme for early detection...... of testis cancer in the management of infertile men with poor semen quality is recommended....

Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement.

Science.gov (United States)

Dursun, Ali; Ozgul, R Koksal; Soydas, Asli; Tugrul, Tugba; Gurgey, Aytemiz; Celiker, Alpay; Barst, Robyn J; Knowles, James A; Mahesh, Mansukhani; Morse, Jane H

2009-01-01

We present two siblings with identical clinical findings that seem to represent a previously unreported familial syndrome. Major findings involve three systems: pulmonary arterial hypertension, cardiac abnormalities including secundum-type atrial septal defect, and the hematopoietic system with intermittent neutropenia, lymphopenia, monocytosis, and anemia. The siblings also shared several minor abnormalities: pectus carinatum, long fingers, proximally placed thumb, broad nasal bridge, and high-arched palate. The male proband also had bilateral inguinal hernias and undescended testes. The same findings in two siblings suggest a genetic cause--either an autosomal recessive disorder or germline mosaicism in one parent for a dominant mutation. Investigations revealed a bone morphogenetic protein receptor 2 polymorphism in intron 4 in only one sibling, which was also present in unaffected maternal relatives.

Brain MR Contribution to the Differential Diagnosis of Parkinsonian Syndromes: An Update

Directory of Open Access Journals (Sweden)

Giovanni Rizzo

2016-01-01

Full Text Available Brain magnetic resonance (MR represents a useful and feasible tool for the differential diagnosis of Parkinson’s disease. Conventional MR may reveal secondary forms of parkinsonism and may show peculiar brain alterations of atypical parkinsonian syndromes. Furthermore, advanced MR techniques, such as morphometric-volumetric analyses, diffusion-weighted imaging, diffusion tensor imaging, tractography, proton MR spectroscopy, and iron-content sensitive imaging, have been used to obtain quantitative parameters useful to increase the diagnostic accuracy. Currently, many MR studies have provided both qualitative and quantitative findings, reflecting the underlying neuropathological pattern of the different degenerative parkinsonian syndromes. Although the variability in the methods and results across the studies limits the conclusion about which technique is the best, specific radiologic phenotypes may be identified. Qualitative/quantitative MR changes in the substantia nigra do not discriminate between different parkinsonisms. In the absence of extranigral abnormalities, the diagnosis of PD is more probable, whereas basal ganglia changes (mainly in the putamen suggest the diagnosis of an atypical parkinsonian syndrome. In this context, changes in pons, middle cerebellar peduncles, and cerebellum suggest the diagnosis of MSA, in midbrain and superior cerebellar peduncles the diagnosis of PSP, and in whole cerebral hemispheres (mainly in frontoparietal cortex with asymmetric distribution the diagnosis of Corticobasal Syndrome.

A methodological framework for the evaluation of syndromic surveillance systems: a case study of England.

Science.gov (United States)

Colón-González, Felipe J; Lake, Iain R; Morbey, Roger A; Elliot, Alex J; Pebody, Richard; Smith, Gillian E

2018-04-24

Syndromic surveillance complements traditional public health surveillance by collecting and analysing health indicators in near real time. The rationale of syndromic surveillance is that it may detect health threats faster than traditional surveillance systems permitting more timely, and hence potentially more effective public health action. The effectiveness of syndromic surveillance largely relies on the methods used to detect aberrations. Very few studies have evaluated the performance of syndromic surveillance systems and consequently little is known about the types of events that such systems can and cannot detect. We introduce a framework for the evaluation of syndromic surveillance systems that can be used in any setting based upon the use of simulated scenarios. For a range of scenarios this allows the time and probability of detection to be determined and uncertainty is fully incorporated. In addition, we demonstrate how such a framework can model the benefits of increases in the number of centres reporting syndromic data and also determine the minimum size of outbreaks that can or cannot be detected. Here, we demonstrate its utility using simulations of national influenza outbreaks and localised outbreaks of cryptosporidiosis. Influenza outbreaks are consistently detected with larger outbreaks being detected in a more timely manner. Small cryptosporidiosis outbreaks (framework constitutes a useful tool for public health emergency preparedness in multiple settings. The proposed framework allows the exhaustive evaluation of any syndromic surveillance system and constitutes a useful tool for emergency preparedness and response.

Relationship between organizational climate and burnout syndrome in the emergency service of a hospital Category III-2. Lima, Peru 2015

Directory of Open Access Journals (Sweden)

Zenaida Solís Chuquiyaur

2016-04-01

Full Text Available Objective: To determine the relationship between organizational climate and Burnout Syndrome among nursing professionals of the Emergency Service in a Hospital Category III-2. Material and methods: quantitative, prospective, correlational cross-sectional study. The sample consisted of 43 nurses, using a non-probability sampling for convenience. For analysis and study of the variables, Rensis Likert scale and Maslach Burnout Inventory were used. Results: The organizational climate was average level (81.4% followed by a high level (18.6% and the Burnout Syndrome corresponds to low level (86% and medium (14% level. The relationship between organizational climate and Burnout Syndrome was low (rho = -0.11. Conclusions: In the Emergency Service, the level of organizational climate was fairly favorable with absence of Burnout Syndrome among nursing professionals. There is not significant relationship between the two variables.

Neuron- specific enolase level in patients with metabolic syndrome and its value forecasting acute stroke

Directory of Open Access Journals (Sweden)

Oral Ospanov

2018-03-01

Full Text Available Background Patients with metabolic syndrome are at a greater risk of experiencing a cerebrovascular event. Several studies show that patients with metabolic syndrome have asymptomatic ischemic brain injury. In this case, there is a need for rapid determination of asymptomatic brain lesions and prediction of acute stroke. Aims The aim of the study was to determine the neuron-specific enolase (NSE serum level in patients with metabolic syndrome and the value of this level for forecasting acute stroke. Methods The study used the following information to determine metabolic syndrome: waist circumference, total cholesterol, triglycerides, high-density lipoprotein cholesterol, blood pressure, and blood glucose. Doppler sonography mapping of the brachiocephalic trunk was held to determine the percentage of the carotid artery stenosis. To determine asymptomatic ischemic brain injury, the NSE serum marker was measured. Statistical processing of the measurements was performed using the H test and the Mann–Whitney test. The possible link between MS and NSE were determined by logistic regression analysis. Mathematical modeling was performed using logistic regression. Results There are statistically significant differences in NSE concentrations in groups with metabolic syndrome and ischemic stroke patients. This assertion is confirmed by logistic regression analysis, which revealed the existence of a relationship between metabolic syndrome and increased concentration of NSE. Conclusion Patients with metabolic syndrome have an increased concentration of NSE. This indicates the presence of asymptomatic ischemic neuronal damage. A prognostic model for determining the probability that patients with metabolic syndrome will have an acute stroke was developed.

Contributions to quantum probability

Energy Technology Data Exchange (ETDEWEB)

Fritz, Tobias

2010-06-25

Chapter 1: On the existence of quantum representations for two dichotomic measurements. Under which conditions do outcome probabilities of measurements possess a quantum-mechanical model? This kind of problem is solved here for the case of two dichotomic von Neumann measurements which can be applied repeatedly to a quantum system with trivial dynamics. The solution uses methods from the theory of operator algebras and the theory of moment problems. The ensuing conditions reveal surprisingly simple relations between certain quantum-mechanical probabilities. It also shown that generally, none of these relations holds in general probabilistic models. This result might facilitate further experimental discrimination between quantum mechanics and other general probabilistic theories. Chapter 2: Possibilistic Physics. I try to outline a framework for fundamental physics where the concept of probability gets replaced by the concept of possibility. Whereas a probabilistic theory assigns a state-dependent probability value to each outcome of each measurement, a possibilistic theory merely assigns one of the state-dependent labels ''possible to occur'' or ''impossible to occur'' to each outcome of each measurement. It is argued that Spekkens' combinatorial toy theory of quantum mechanics is inconsistent in a probabilistic framework, but can be regarded as possibilistic. Then, I introduce the concept of possibilistic local hidden variable models and derive a class of possibilistic Bell inequalities which are violated for the possibilistic Popescu-Rohrlich boxes. The chapter ends with a philosophical discussion on possibilistic vs. probabilistic. It can be argued that, due to better falsifiability properties, a possibilistic theory has higher predictive power than a probabilistic one. Chapter 3: The quantum region for von Neumann measurements with postselection. It is determined under which conditions a probability distribution on a

Assessing the clinical probability of pulmonary embolism

International Nuclear Information System (INIS)

Miniati, M.; Pistolesi, M.

2001-01-01

Clinical assessment is a cornerstone of the recently validated diagnostic strategies for pulmonary embolism (PE). Although the diagnostic yield of individual symptoms, signs, and common laboratory tests is limited, the combination of these variables, either by empirical assessment or by a prediction rule, can be used to express a clinical probability of PE. The latter may serve as pretest probability to predict the probability of PE after further objective testing (posterior or post-test probability). Over the last few years, attempts have been made to develop structured prediction models for PE. In a Canadian multicenter prospective study, the clinical probability of PE was rated as low, intermediate, or high according to a model which included assessment of presenting symptoms and signs, risk factors, and presence or absence of an alternative diagnosis at least as likely as PE. Recently, a simple clinical score was developed to stratify outpatients with suspected PE into groups with low, intermediate, or high clinical probability. Logistic regression was used to predict parameters associated with PE. A score ≤ 4 identified patients with low probability of whom 10% had PE. The prevalence of PE in patients with intermediate (score 5-8) and high probability (score ≥ 9) was 38 and 81%, respectively. As opposed to the Canadian model, this clinical score is standardized. The predictor variables identified in the model, however, were derived from a database of emergency ward patients. This model may, therefore, not be valid in assessing the clinical probability of PE in inpatients. In the PISA-PED study, a clinical diagnostic algorithm was developed which rests on the identification of three relevant clinical symptoms and on their association with electrocardiographic and/or radiographic abnormalities specific for PE. Among patients who, according to the model, had been rated as having a high clinical probability, the prevalence of proven PE was 97%, while it was 3

LEOPARD syndrome is not linked to the Marfan syndrome and the Watson syndrome loci