Sample records for brugada syndrome traits

  1. Brugada syndrome

    Bockeria O.L.


    Full Text Available Brugada syndrome is characterized by sudden death associated with one of several ECG patterns including incomplete right bundle-branch block and ST-segment elevation in the anterior precordial leads. According to the ECG patterns there are three types of Brugada syndrome. Brugada syndrome is genetically determined and has an autosomal dominant pattern of transmission in about 50% of familial cases. Nowadays implantation of cardioverter-defibrillator is the only proven method of sudden cardiac death prevention.

  2. Brugada syndrome

    Rachel Bastiaenen


    Full Text Available The Brugada syndrome demonstrates characteristic electrocardiogram features and is a significant cause of sudden death in young adults with overtly normal cardiac structure and function. The genetic basis has not yet been fully elucidated but our understanding of the causative mutations and modifiers of arrhythmic events is advancing rapidly alongside sequencing technologies. We expect that the future will include risk stratification according to genotype and management tailored to the genetic diagnosis.

  3. Brugada syndrome

    Priori Silvia G


    Full Text Available Abstract A novel clinical entity characterized by ST segment elevation in right precordial leads (V1 to V3, incomplete or complete right bundle branch block, and susceptibility to ventricular tachyarrhythmia and sudden cardiac death has been described by Brugada et al. in 1992. This disease is now frequently called "Brugada syndrome" (BrS. The prevalence of BrS in the general population is unknown. The suggested prevalence ranges from 5/1,000 (Caucasians to 14/1,000 (Japanese. Syncope, typically occurring at rest or during sleep (in individuals in their third or fourth decades of life is a common presentation of BrS. In some cases, tachycardia does not terminate spontaneously and it may degenerate into ventricular fibrillation and lead to sudden death. Both sporadic and familial cases have been reported and pedigree analysis suggests an autosomal dominant pattern of inheritance. In approximately 20% of the cases BrS is caused by mutations in the SCN5A gene on chromosome 3p21-23, encoding the cardiac sodium channel, a protein involved in the control of myocardial excitability. Since the use of the implantable cardioverter defibrillator (ICD is the only therapeutic option of proven efficacy for primary and secondary prophylaxis of cardiac arrest, the identification of high-risk subjects is one of the major goals in the clinical decision-making process. Quinidine may be regarded as an adjunctive therapy for patients at higher risk and may reduce the number of cases of ICD shock in patients with multiple recurrences.

  4. Understanding Brugada syndrome.

    Gehshan, Janine Mary; Rizzolo, Denise


    Brugada syndrome is an established cause of sudden cardiac arrest in patients without structural cardiac abnormalities. Recognition and diagnosis of this syndrome has been slowly increasing. Syncope, ventricular dysrhythmia, or sudden cardiac arrest may be the presenting symptom, although detection of the characteristic right precordial ST-segment elevation on ECG can be a potentially lifesaving intervention. This article reviews the clinical presentation, pathophysiology, genetics, and current management of Brugada syndrome. PMID:25932713

  5. Approach to Brugada Syndrome

    Johnson Francis


    Brugada Syndrome was initially described by Brugada brothers in their seminal paper published in the Journal of American College of Cardiology in 1992. The syndrome was characterized by syncopal episodes and/or sudden cardiac death in association with right bundle branch block pattern with ST segment elevation in right precordial leads. Genetic basis involving mutations in sodium channel (SCN5A) was first described in 1998. But SCN5A mutations account for only about a fifth of the clinical c...

  6. Approach to Brugada Syndrome

    Johnson Francis


    Full Text Available Brugada Syndrome was initially described by Brugada brothers in their seminal paper published in the Journal of American College of Cardiology in 1992. The syndrome was characterized by syncopal episodes and/or sudden cardiac death in association with right bundle branch block pattern with ST segment elevation in right precordial leads. Genetic basis involving mutations in sodium channel (SCN5A was first described in 1998. But SCN5A mutations account for only about a fifth of the clinical cases of Brugada syndrome. Mutations in several other genes have been documented in later studies (at least 16 of them, though SCN5A mutation is the commonest. Life threatening ventricular arrhythmias with a structurally normal heart was the usual pattern in initial reports. But later on it was noted that several persons with similar ECG pattern never had any arrhythmias in their life time. There was significant variation in the severity of presentation between different regions of the world, with more malignant phenotypes noted in South East Asian countries.

  7. Brugada Syndrome-An Update.

    Oruganti Sai Satish


    Full Text Available A diagnostic triad characterizes Brugada syndrome. It consists of a right bundle branchblock, ST-segment elevation in leads V1-V3 and sudden cardiac death (SCD.Approximately 50% of patients with Brugada syndrome noted to have familial occurrence,this suggests a genetic component of the disease. Mutations in gene SCN5A, an encoder forhuman cardiac sodium channel on chromosome 3p21, causes Brugada syndrome. Beforeconsidering the diagnosis of Brugada syndrome, exclude precordial ST-segment elevationsecondary to acute coronary syndrome, electrolyte imbalance, myocarditis, drug over dosage(cocaine, tricyclic antidepressants, and arrhythmogenic right ventricularcardiomyopathy/dysplasia. Intravenous administration of ajmaline, flecainide, and procainamidemay exaggerate the ST-segment elevation, or unmask it when it is initially absentin patients with suspected Brugada syndrome. Programmed electrical stimulation (PES mayhelp in risk stratification, and in some cases, establish the diagnosis. However, the accuracyof PES in predicting outcome is debatable, especially in patients showing an asymptomaticBrugada ECG, and reporting no family history of SCD. Treatment with an implantable cardioverter-defibrillator (ICD is the only established effective therapy for the disease. WithICD therapy, the mortality rate at a 10 year follow-up was 0%. Supporting data for longtermpharmacological therapy with quinidine, or isoproterenol for prevention of SCD, inthese patients, is uncomplete. Future advances in understanding the molecular mechanismsof Brugada syndrome may provide answers to many of the controversial issues in the managementof this disease.

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

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


    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...

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

    Anders G. Holst


    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.

  10. Ageing and Brugada syndrome: considerations and recommendations

    Pieter G. Postema; Hanno L Tan; Arthur AM Wilde


    Brugada syndrome is an inherited disease associated with an increased risk of lethal ventricular arrhythmias. Such arrhythmias stem from innate disruptions in cardiac electrophysiology. Typically, such arrhythmias occur in the third or fourth decade of life. However, Brugada syndrome may also affect geriatric patients. In this paper, we focus on the ageing patient with Brugada syndrome, and specifically, on the interaction between Brugada syndrome and the more usually acquired clinical problems that may occur with increasing age, such as the use of cardiovascular and non-cardiovascular drugs, or the need for surgery. Such common conditions may also disrupt cardiac electrophysiology, thereby conferring added risk for Brugada syndrome patients. We present some considerations and recommendations that may serve as guidance to address these complexities.


    Kuzevska-Maneva Konstandina


    Full Text Available Brugada syndrome is a type of arrhythmia disorder, which is characterised by abnormal electrocardiogram (ECG findings and an increased risk of sudden cardiac death. The most frequent sign is a persistent ST elevation in the electrocardiographic leads V1-V3 with a right bundle branch block (RBBB.We present a case of 12 years old healthy child, without any complains until then. He had 2 episodes of collapse/syncope, which lasted long and spontaneously disappeared. The collapses were provoked by physical activity. On ECG we found sinus rhythm 62 bpm, RBBB (right bundle brunch block and Brugada signs in V2 and V3 channel-ST elevation ≥ 2mm. The child was sent in electrophysiological centre abroad where the electrophysiological study was performed. They did not found any accessory pathway. The atrioventricular (AV conduction was normal. Long lasting polymorphic ventricular tachycardia/fibrillation was induced with programed stimulation with 3 extrastimuli in right ventricular outflow tract. Performing one defibrillation the rhythm turned in sinus way. Then they performed ECG with translocation of electrodes V1-3 in 2nd intercostal space and the Brugada I type findings was discovered. After confirming of presence of Brugada type -1 syndrome the implantable cardioverter- defibrillator (ICD was applied on child heart.


    T. A. Pavlenko


    Full Text Available Nowadays interest in channelopathies is growing, and developing diagnostic capabilities make Brugada syndrome much more actual problem than ever. Conception of «primary electric heart disease», which earlier was so popular, now couldn’t explain the absence of single genetic syndromes’ substrate, its’ common combinations with another arrhythmias and the presence of Brugada phenocopy. Conjunction of Brugada syndrome with morphological changes in myocardium , especially myocarditis, is an area of special interest. Infl ammation associates with clinical manifestation of the syndrome, and this situation forces to think about channelopathies’ primacy and to look for another possible mechanisms of Brugada syndrome.

  13. Characteristics of subjects with Brugada syndrome type electrocardiogram

    Junttila, J.


    Abstract Brugada syndrome is an inherited arrhythmia disorder that predisposes to sudden cardiac death. It is characterized by its distinct ECG pattern. The purpose of this thesis was to study the phenotype and genotype characteristics of subjects with Brugada syndrome type ECG. The first study population consisted of 2479 young male Air Force applicants and 542 healthy middle-aged subjects. The 12-lead ECG was analyzed to assess the prevalence and prognosis of Brugada pattern in Finn...

  14. Brugada syndrome: A brand new case

    Jurčević Ružica


    Full Text Available Background: Brugada syndrome (BS is a disorder characterized by syncope or sudden death associated with one of several electrocardiographic (ECG patterns characterized by incomplete right bundle branch block and ST elevation in the anterior precordial leads. Patients with BS are prone to develop ventricular tachyarrhythmias that may lead to syncope, cardiac arrest, or sudden cardiac death. Case report. A 58-year-old woman is the first described case of Brugada syndrome in Serbia with intermittent typical changes in basic electrocardiography (ECG: ST segment elevation in the precordial chest leads like dome or coved - major form or type I. For the last 27 years the patient had suffered of palpitations and dizziness, without syncopal events. Her sister had died suddenly during the night in sleep. During 24-hour Holter monitoring the patient had ventricular premature beats during the night with R/T phenomenon and during the recovery phase of exercise testing had rare premature ventricular beats as the consequence of parasympatethic stimulation. Late potentials were positive. Echocardiography revealed left ventricular ejection fraction of 60%. We performed coronary angiography and epicardial coronary arteries were without significant stenosis and structural heart disease was excluded. In the bigining of the electrophysiological study ECG was normal, and after administration of Propaphenon i.v. Brugada syndrome unmasked with appearance of type I ECG pattern. A programed ventricular stimulation induced non sustained ventricular tachycardia. One-chamber implantable cardioverter defibrillator was implanted and the patient was treated with a combination od amiodarone and metoprolol per os. After one-year follow-up, there were no episodes of ventricular tachycardia and ventricular fibrillation. Conclusion. Brugada syndrome is a myocardial disorder which prognosis and therapy are related to presence of ventricular fibrillation or ventricular tachycardia

  15. Brugada Syndrome and Pregnancy: Highlights on Antenatal and Prenatal Management

    Laura Giambanco


    Full Text Available Introduction. Brugada syndrome is characterized by a disruption of heart’s normal rhythm. It is an autosomal dominant disease due to a mutation of SNC5A gene. Its prevalence is low all over the world, but it is a lethal disease. Sudden cardiac death is the result of phenotypic manifestation of Brugada syndrome. Among asymptomatic Brugada patients, arrhythmia could be provoked by physical activity, fever, or pregnancy. About obstetrical management, very few data or reports have been published since this syndrome has been diagnosed in late 1992. Case Presentation. A 20-year-old pregnant woman at 13 weeks of gestation was referred to our department because of her familial history of sudden cardiac deaths. Brothers and sisters of her mother died of Brugada syndrome in childhood or older and live components of this family were carrier of mutation in Brugada gene. The pregnancy was uneventful. The patient gave birth vaginally without any arrhythmia. Strictly cardiological monitoring was performed during labour, delivery, and 12 hours of the postpartum. Conclusion. Even though patient at low risk may never have arrhythmia, some conditions could represent a Brugada trigger. The management could be very easy and uneventful. Otherwise it could be very difficult with need of ECMO or antiarrhythmics drugs or intracardiac device. Obstetrical management of Brugada pregnant women should be very strict and multidisciplinary in cooperation with cardiologist and anaesthesiologist and should provide an informed consent to the couple.

  16. The Brugada syndrome. Outcome of one case

    Maia Ivan G.


    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.

  17. Brugada Syndrome and PKP2: Evidences and uncertainties.

    Campuzano, Oscar; Fernández-Falgueras, Anna; Iglesias, Anna; Brugada, Ramon


    Common electrocardiographic patterns in Brugada Syndrome and Arrhythmogenic Cardiomyopathy have been reported despite phenotypic alterations during its clinical course. Recently, potentially pathogenic variants in the PKP2 gene, the most prevalent gene associated with Arrhythmogenic Cardiomyopathy, have been associated with Brugada Syndrome. In addition, in vitro studies demonstrated the interaction between plakophilin-2 and sodium channel, the most prevalent gene associated with Brugada Syndrome. All these facts reinforce the suggested overlapping between both entities but little is known about the pathophysiological mechanisms. We have performed a comprehensive genetic revision of all PKP2 genetic variants currently associated with Brugada Syndrome. In all variants we identified a lack of solid evidences in order to establish a definite genotype-phenotype association. Hence, despite we believe that PKP2 analysis should be considered as a part of molecular genetic testing in Brugada Syndrome patients, comprehensive clinical and molecular studies should be performed before establish pathogenic association. Therefore, PKP2 variants in Brugada Syndrome cases should be interpreted carefully and additional studies including family segregation should be performed before translation into clinical practice. PMID:27085656

  18. The genetic component of Brugada Syndrome

    Morten Wagner Nielsen


    Full Text Available Brugada Syndrome (BrS is a clinical entity first described in 1992. BrS is characterized by ST-segment elevations in the right precordial leads and susceptibility to ventricular arrhythmias and sudden cardiac death. It affects young subjects, predominantly males, with structurally normal hearts. The prevalence varies with ethnicity ranging from 1:2,000 to 1:100,000 in different parts of the world. Today, hundreds of variants in 17 genes have been associated with BrS of which mutations in SCN5A, coding for the cardiac voltage-gated sodium channel, accounts for the vast majority. Despite this, approximately 70% of BrS cases cannot be explained genetically with the current knowledge. Moreover, the monogenic role of some of the variants previously described as being associated with BrS has been questioned by their occurrence in about 4% (1:23 of the general population as found in NHLBI GO Exome Sequencing Project (ESP currently including approximately 6500 individuals. If we add the variants described in the five newest identified genes associated with BrS, they appear at an even higher prevalence in the ESP (1:21. The current standard treatment of BrS is an implantable cardioverter-defibrillator (ICD. The risk stratification and indications for ICD treatment are based on the ECG and on the clinical and family history. In this review we discuss the genetic basis of BrS.

  19. [Brugada phenocopy].

    Tomcsányi, János


    Brugada phenocopies are clinical entities that are different from the true Brugada syndrome which is a channelopathy. Brugada phenocopy has reversible underlying conditions and, if underlying conditions resolve, the ECG pattern disappears. In this paper the author reviews and illustrates the known Brugada phenocopies. The most important etiologic categories of Brugada phenocopy include metabolic abnormalities (most commonly hyperkalemia), myocardial infarction, pulmonary embolism (massive), right ventricular mechanical compression, and others. The most important clinical issue is the different treatment of the Brugada syndrome and phenocopies in order to prevent cardiac death. In Brugada syndrome the implantable cardioverter defibrillator is the only effective treatment, while in Brugada phenocopies early, etiology-specific treatment can prevent cardiac death. Orv. Hetil., 2016, 157(13), 495-499. PMID:26996896

  20. Brugada syndrome unmasked by accidental inhalation of gasoline vapors

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


    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...

  1. The genetic basis of Brugada syndrome: a mutation update

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


    Brugada syndrome (BrS) is a condition characterized by a distinct ST-segment elevation in the right precordial leads of the electrocardiogram and, clinically, by an increased risk of cardiac arrhythmia and sudden death. The condition predominantly exhibits an autosomal dominant pattern of...

  2. Brugada syndrome risk loci seem protective against atrial fibrillation

    Andreasen, Laura; Nielsen, Jonas B; Darkner, Stine;


    Several studies have shown an overlap between genes involved in the pathophysiological mechanisms of atrial fibrillation (AF) and Brugada Syndrome (BrS). We investigated whether three single-nucleotide polymorphisms (SNPs) (rs11708996; G>C located intronic to SCN5A, rs10428132; T>G located in SCN10...

  3. Dynamiske ekg-forandringer ved Brugada-syndrom, en overset diagnose?

    Tfelt-Hansen, Jacob; Svendsen, Jesper Hastrup; Hofman-Bang, Jacob;


    Brugada syndrome is a primary electrical disease involving a wide spectrum of phenotypes. The hallmark of Brugada syndrome is the ST elevation in leads V1 to V3. We present three cases of Brugada syndrome. The first patient was diagnosed via routine ECG and a programmed electric stimulation. The...... second patient was mistakenly diagnosed as having a right coronary occlusion. The last patient had been resuscitated before admittance and received an implantable cardioverter-defibrillator. Treatment of patients with Brugada syndrome is limited by the lack of reliable indicators of risk. Udgivelsesdato...

  4. Brugada syndrome: Controversies in Risk stratification and Management.

    Nunn, L.; Bhar-Amato, J; Lambiase, P.


    In the 18 years since the first description of Brugada Syndrome in a small series of cardiac arrest survivors it has become evident that there is a marked spectrum in phenotype and prognosis. An internal cardiac defibrillator (ICD) is the only established therapy but is associated with significant morbidity. A number of registries have published their data, but risk stratification, particularly in asymptomatic patients, remains controversial. This article summarises the evidence to enable the...

  5. From syncope to ICD: clinical paths of the Brugada syndrome

    Ivan Comelli; Gianfranco Cervellin; Tiziana Meschi; Loris Borghi


    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 ...

  6. Intermittent Brugada Syndrome Presenting with Syncope in an Adult Female

    Patricia Chavez


    Full Text Available Background. Brugada syndrome accounts for 4–12% of all sudden deaths worldwide and at least 20% of sudden deaths in patients with structurally normal hearts. Case Report. A 48-year-old female presented to the emergency department after two witnessed syncopal episodes. While awaiting discharge had a third collapse followed by cardiac arrest with shockable rhythm. Initial electrocardiogram showed wide QRS complex with left axis deviation, ST-segment elevation of 2 mm followed by a negative T wave with no isoelectric separation, suggestive of spontaneous intermittent Brugada type 1 pattern. Cardiac magnetic resonance imaging demonstrated neither structural heart disease nor abnormal myocardium. After placement of an implantable cardioverter defibrillator the patient was discharged. Why should an emergency physician be aware of this? Brugada syndrome is an infrequently encountered clinical entity which may have a fatal outcome. This syndrome primarily presents with syncope. It should be considered as a component of differential diagnosis in patients with family history of syncope and sudden cardiac death.

  7. 精神药物致Brugada波及Brugada综合征综述%A Review of Brugada Electrocardiogram Patterns and Brugada Syndrome Induced by Psychotropic Drugs

    孙振晓; 于相芬


    Brugada综合征是一种与心脏性猝死密切相关的离子通道疾病。精神药物在常规或过量使用时,可引起心电图Brugada波及Brugada综合征。为提高临床医生的认识,对Brugada波与Brugada综合征的概念、精神药物所致Brugada波及Brugada综合征的诊断、鉴别诊断、病理生理机制及处理等作一综述。%Brugada syndrome is an ion channel disease closely associated with sudden cardiac death. Psy-chotropic drugs could induce Brugada electrocardiogram patterns and Brugada syndrome at routine dose or over-dose. In order to make a better understanding of psychotropic drug-induced Brugada electrocardiogram patterns and Brugada syndrome in clinical practice,this article made a review on the definition of Brugada electrocardiogram patterns and Brugada syndrome,diagnosis,differential diagnosis,pathomechanism and the treatment of psychotrop-ic drug-induced Brugada electrocardiogram patterns and Brugada syndrome.

  8. Brugada syndrome in the paediatric population: a comprehensive approach to clinical manifestations, diagnosis, and management.

    Gonzalez Corcia, M Cecilia; de Asmundis, Carlo; Chierchia, Gian-Battista; Brugada, Pedro


    Brugada syndrome is an inherited arrhythmogenic disorder, characterised by coved-type ST-segment elevation in the right precordial leads, and is associated with increased risk of sudden death. It is genetically and clinically heterogeneous, presenting typically in the fourth or fifth decade of life. The prevalence of Brugada syndrome in the paediatric population is low compared with the adult population. Interestingly, over the last several years, there has been growing evidence in the literature of onset of the disease during childhood. Most of the paediatric cases reported in the literature consist of asymptomatic Brugada syndrome; however, some patients manifest the disease at different regions of the cardiac conduction system at a young age. Early expression of the disease can be affected by multiple factors, including genetic substrate, hormonal changes, and still unknown environmental exposures. The initial manifestation of Brugada syndrome in children can include sinus node dysfunction and atrial arrhythmias. Brugada syndrome can also manifest as ventricular arrhythmias leading to sudden death at an early age. In symptomatic children, performance of the ajmaline test by an experienced team can be safely used as a diagnostic tool to unmask latent Brugada syndrome. Defining indications for an implantable cardioverter defibrillator in children with the diagnosis of Brugada syndrome remains challenging. Given the rarity of the syndrome in children, most paediatric cardiologists will only rarely see a young patient with Brugada syndrome and there is still no universal consensus regarding the optimal management approach. Care should be individualised according to the specific clinical presentation, taking into account the family history, genetic data, and the family's specific preferences. PMID:27151277

  9. Usefulness of body surface mapping to differentiate patients with Brugada syndrome from patients with asymptomatic Brugada syndrome.

    Hisamatsu K


    Full Text Available We attempted to determine the usefulness of body surface mapping (BSM for differentiating patients with Brugada syndrome (BS from patients with asymptomatic Brugada syndrome (ABS. Electrocardiograms (ECG and BSM were recorded in 7 patients with BS and 35 patients with ABS. Following the administration of Ic antiarrhythmic drugs, BSM was recorded in 5 patients with BS and 16 patients with ABS. The maximum amplitudes at J0, J20, J40 and J60 were compared between the 2 groups, as were 3-dimensional maps. The maximum amplitudes at J0, J20 and J60 under control conditions were larger in patients with BS than in patients with ABS (P < 0.05. A three-dimensional map of the ST segments under control conditions in patients with BS showed a higher peak of ST elevation in the median precordium compared to that for patients with ABS. Increases in ST elevation at J20, J40 and J60 following drug administration were greater in patients with BS than in patients with ABS (P < 0.05. Evaluation of the change in amplitude of the ST segment at E5 caused by Ic drug administration was also useful for differentiating between the 2 groups. In conclusion, BSM was useful for differentiating patients with BS from those with ABS.

  10. The usefulness of the consensus clinical diagnostic criteria in Brugada syndrome

    Sarkozy, A.; Paparella, G.; Boussy, T.; Casado-Arroyo, R.; Yazaki, Y.; Chierchia, G.B.; Asmundis, C. de; Bayrak, F.; Namdar, M.; Richter, S.; Brugada, J.; Brugada, P.


    BACKGROUND: Consensus statements were proposed for the diagnosis of Brugada syndrome (BS). The clinical diagnostic criteria were defined as documented ventricular fibrillation or ventricular tachycardia (VT), family history of sudden cardiac death at <45 years, diagnostic ECGs of family members,

  11. Brugada syndrome masquerading as acute myocardial infarction in a patient presenting with ventricular fibrillation


    @@ Idiopathic ventricular fibrillation (VF) has been reported to account for 3%-9% of all sudden arrhythmic deaths.1 In 1991, Pedro and Josep Brugada first described a subgroup of patients with idiopathic VF who presented with a right bundle branch block (RBBB) pattern and marked ST-segment elevation in the right precordial leads V1-V3 during sinus rhythm in the absence of any structural heart disease.2 This is now known as the Brugada syndrome. In Hong Kong the first two cases of Brugada syndrome were reported in April 1999 in local medical literature. Since then more patients from different local hospitals were identified to suffer from the syndrome. We report here a male patient suffering from Brugada syndrome which masqueraded as an acute anteroseptal myocardial infarction 10 years ago.

  12. Überlebter plötzlicher Herzkreislaufstillstand bei einem Patienten ohne strukturelle Herzerkrankung: das Brugada-Syndrom

    Scherr D


    Full Text Available Bei überlebtem plötzlichem Herzkreislaufstillstand bzw. bei Patienten mit Synkopen unklarer Genese ist das Brugada-Syndrom eine mögliche Differentialdiagnose. Bei Verdacht auf Brugada-Syndrom und unauffälligem 12-Kanal-EKG sollte ein Ajmalin-Test durchgeführt werden. Bei Patienten mit Brugada-Syndrom ist eine ICD-Implantation indiziert. Weiters sollte ein Familien-Screening durchgeführt werden.

  13. Ventricular tachycardia in a Brugada syndrome patient caused by a novel deletion in SCN5A

    Tfelt-Hansen, J; Jespersen, T; Hofman-Bang, J;


    The aim of the present study was to identify the molecular mechanism behind ventricular tachycardia in a patient with Brugada syndrome. Arrhythmias in patients with Brugada syndrome often occur during sleep. However, a 28-year-old man with no previously documented arrhythmia or syncope who...... experienced shortness of breath and chest pain during agitation is described. An electrocardiogram revealed monomorphic ventricular tachycardia; after he was converted to nodal rhythm, he spontaneously went into sinus rhythm, and showed classic Brugada changes with coved ST elevation in leads V(1) to V(2......-cell patch clamp experiments using human embryonic kidney 293 cells transfected with the mutated SCN5A, no current could be recorded. Hence, the results suggest that the patient suffered from haploinsufficiency of Na(v)1.5, and that this mutation was the cause of his Brugada syndrome....

  14. Brugada syndrome and its relevance in the perioperative period

    Dan Sorajja


    Full Text Available Brugada syndrome is an autosomal dominant genetic disorder associated with an increased risk of sudden cardiac death, as well as ventricular tachyarrhythmias.The defective cardiac sodium channels result in usual electrocardiographic findings of a coved-type ST elevation in precordial leads V1 to V3. The majority of patients have uncomplicated courses with anesthesia, surgery, and invasive procedures. However there is risk of worsening ST elevation and ventricular arrhythmias due to perioperative medications, surgical insult, electrolyte abnormalities, fever, autonomic nervous system tone, as well as other perturbations. Given the increasing numbers of patients with inherited conduction disorders presenting for non-cardiac surgery that are at risk of sudden cardiac death, safe anesthetic management depends upon a detailed knowledge of these conditions.

  15. Distinct functional defect of three novel Brugada syndrome related cardiac sodium channel mutations

    Juang Jyh-Ming


    Full Text Available Abstract The Brugada syndrome is characterized by ST segment elevation in the right precodial leads V1-V3 on surface ECG accompanied by episodes of ventricular fibrillation causing syncope or even sudden death. The molecular and cellular mechanisms that lead to Brugada syndrome are not yet completely understood. However, SCN5A is the most well known responsible gene that causes Brugada syndrome. Until now, more than a hundred mutations in SCN5A responsible for Brugada syndrome have been described. Functional studies of some of the mutations have been performed and show that a reduction of human cardiac sodium current accounts for the pathogenesis of Brugada syndrome. Here we reported three novel SCN5A mutations identified in patients with Brugada syndrome in Taiwan (p.I848fs, p.R965C, and p.1876insM. Their electrophysiological properties were altered by patch clamp analysis. The p.I848fs mutant generated no sodium current. The p.R965C and p.1876insM mutants produced channels with steady state inactivation shifted to a more negative potential (9.4 mV and 8.5 mV respectively, and slower recovery from inactivation. Besides, the steady state activation of p.1876insM was altered and was shifted to a more positive potential (7.69 mV. In conclusion, the SCN5A channel defect related to Brugada syndrome might be diverse but all resulted in a decrease of sodium current.

  16. Sudden Cardiac Arrest due to Brugada Syndrome: a Case Report and Literature Review

    R Soleimanirad


    Full Text Available Brugada Syndrome is a rare cause of sudden cardiac arrest and has a unique ECG pattern. In fact, with ST-segment elevation down sloping in the right precordial leads (v1-v3, RBBB pattern in lateral leads and J-point elevation is revealed. We must notice and avoid trigger factors of this syndrome during general anesthesia. Patient is a 39 old man who attended to emergency department with sudden cardiac arrest and resuscitate. He was transferred to ICU for management of hypoxic ischemic encephalopathy. Complementary studies concluded the diagnosis of Brugada syndrome. We must consider Brugada syndrome within patients with family history of sudden cardiac arrest. Moreover, we must avoid trigger factors of this syndrome such as fever, bradicardia and electrolyte abnormality (specialy Na, Ca abnormalities during general anesthesia and if they appear, we should treat them.

  17. Pacemaker implantation in a patient with brugada and sick sinus syndrome

    Risgaard, Bjarke; Bundgaard, Henning; Jabbari, Reza;


    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 with...

  18. C-Reactive Protein Levels in the Brugada Syndrome

    Aimé Bonny


    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.

  19. Use of intravenous antiarrhythmics to identify concealed Brugada syndrome

    Brugada Ramon


    Full Text Available Abstract Cardiology has recently witnessed the production of an overwhelming amount of data through the advances made in genetics and molecular biology research. Understanding of genetics has tremendous potential to aid in the prevention, diagnosis and treatment of the majority of diseases. Despite the high level of publicity for research discoveries, clinicians have had difficulty in discriminating between what is still basic research and what can be applied to patients. The fact is that we still lack the technology to perform genetic testing in a time frame that is acceptable to clinicians. Meanwhile, then, the only option is to rely on clinical tests that can help us better stratify the individuals at risk for a disease. For example, Brugada syndrome has benefited tremendously from genetics and molecular biology since its initial description in 1992. Genetics will provide a more definitive diagnosis for the disease in the future. For the time being, though, research has shown that the administration of an intravenous class I antiarrhythmic is very useful in identifying patients with a concealed form of the disease.

  20. Electrocardiographic methods for diagnosis and risk stratification in the Brugada syndrome

    Naseef, Abdulrahman; Behr, Elijah R.; Batchvarov, Velislav N.


    The Brugada syndrome (BrS) is a malignant, genetically-determined, arrhythmic syndrome manifesting as syncope or sudden cardiac death (SCD) in individuals with structurally normal hearts. The diagnosis of the BrS is mainly based on the presence of a spontaneous or Na + channel blocker induced characteristic, electrocardiographic (ECG) pattern (type 1 or coved Brugada ECG pattern) typically seen in leads V1 and V2 recorded from the 4th to 2nd intercostal (i.c.) spaces. This pattern needs to be...

  1. 47. A cardiac center experience with Brugada syndrome who survived sudden cardiac death

    I. Suliman


    Full Text Available Brugada syndrome is a heritable arrhythmia syndrome that is characterized by an electrocardiographic pattern consisting of coved-type ST-segment elevation (2 mm followed by a negative T wave in the right precordial leads, V1 through V3 (often referred to as type 1 Brugada electrocardiographic pattern, here we describe 3 cases of Brugada who survived sudden cardiac death (SCD cardiac center experience with survived Brugada syndrome patients – case series. First Case: The Father 45 years old male, presented in 2005 after involvement in unprovoked motor vehicle accident, the patient was the driver who lost consciousness and rushed to the hospital. On arrival to our ER and putting the patient on the bed, the ER doctor observed a brief episode of VF on the monitor. The patient was taken to the catheterization Lab , his coronaries were normal. The diagnosis of Brugada was established and the patient received a defibrillator. At That Time all family members were screened and were negative. Second Case: The Son of the first patient 5 years later his 23 years old male rushed to our ER after he lost consciousness, he was passenger in the car of his friend. Third Case: The pilot A military pilot aged a male 35 years old was in very good health when he lost consciousness and brought to the hospital after resuscitation in 2005. He had full invasive cardiac evaluation, subsequently he received a defibrillator in the same admission period, till 2015 he is doing fine. Brugada syndrome is associated with high tendency for sudden cardiac death. In our three cases the first clinical presentation was survived sudden cardiac death (SCD and all three male patients survived. We did not encounter a female patient who survived sudden cardiac death.

  2. Mid-term follow-up of patients with Brugada syndrome following a cardioverter defibrillator implantation: A single center experience

    Kharazi, A; Emkanjoo, Z; A. Alizadeh; Nikoo, MH; Jorat, MV; Sadr-Ameli, MA


    Background Brugada syndrome is an arrhythmogenic disease characterized by an ECG pattern of ST-segment elevation in the right precordial leads and an increase risk of sudden cardiac death. Risk stratification for the life-threatening arrhythmic events in Brugada syndrome is not yet established. In the present study, we report our experience in patients with Brugada syndrome, following an ICD implantation. Methods and Results A total of 12 patients (11 men, 1 woman) with a mean age of 46.5±11....

  3. Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort.

    Elisabet Selga

    Full Text Available Brugada syndrome (BrS is a rare genetic cardiac arrhythmia that can lead to sudden cardiac death in patients with a structurally normal heart. Genetic variations in SCN5A can be identified in approximately 20-25% of BrS cases. The aim of our work was to determine the spectrum and prevalence of genetic variations in a Spanish cohort diagnosed with BrS.We directly sequenced fourteen genes reported to be associated with BrS in 55 unrelated patients clinically diagnosed. Our genetic screening allowed the identification of 61 genetic variants. Of them, 20 potentially pathogenic variations were found in 18 of the 55 patients (32.7% of the patients, 83.3% males. Nineteen of them were located in SCN5A, and had either been previously reported as pathogenic variations or had a potentially pathogenic effect. Regarding the sequencing of the minority genes, we discovered a potentially pathogenic variation in SCN2B that was described to alter sodium current, and one nonsense variant of unknown significance in RANGRF. In addition, we also identified 40 single nucleotide variations which were either synonymous variants (four of them had not been reported yet or common genetic variants. We next performed MLPA analysis of SCN5A for the 37 patients without an identified genetic variation, and no major rearrangements were detected. Additionally, we show that being at the 30-50 years range or exhibiting symptoms are factors for an increased potentially pathogenic variation discovery yield.In summary, the present study is the first comprehensive genetic evaluation of 14 BrS-susceptibility genes and MLPA of SCN5A in a Spanish BrS cohort. The mean pathogenic variation discovery yield is higher than that described for other European BrS cohorts (32.7% vs 20-25%, respectively, and is even higher for patients in the 30-50 years age range.

  4. From syncope to ICD: clinical paths of the Brugada syndrome

    Ivan Comelli


    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

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

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


    Brugada 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 bee...

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

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


    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...

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

    Risgaard, B; Jabbari, R; Refsgaard, L;


    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...

  8. SÍNDROME DE BRUGADA: DESDE LOS GENES HASTA LA TERAPÉUTICA / Brugada syndrome: from genes to therapeutics

    Raimundo Carmona Puerta


    Full Text Available The increasing number of ion channelopathies discovered in the heart, with fatal consequences, implies that the specialists involved in the management of these patients must strive to reach a better understanding of basic cardiac electrophysiology. In the Brugada syndrome, up to six genotypes have already been described with affectations in the sodium, calcium and potassium (Ito type channels. In all cases there is a typical electrocardiogram which shows right precordial leads due to the transmural dispersion of repolarization, more pronounced in the region of the outflow tract of the right ventricle. The disease may be asymptomatic or have sudden death as its first manifestation. The implantable defibrillator is considered the most effective treatment, but it can be combined with quinidine to space the shocks and abort electrical storms.

  9. Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome

    Cordeiro, Jonathan M; Marieb, Mark; Pfeiffer, Ryan;


    Recent studies have demonstrated an association between mutations in CACNA1c or CACNB2b and Brugada syndrome (BrS). Previously described mutations all caused a loss of function secondary to a reduction of peak calcium current (I(Ca)). We describe a novel CACNB2b mutation associated with BrS in...... that the faster current decay results in a loss-of-function responsible for the Brugada phenotype...

  10. Novel SCN5A mutation associated with idiopathic ventricular fibrillation due to subclinical Brugada syndrome

    Juan Jiménez-Jáimez


    Full Text Available Idiopathic ventricular fibrillation can be caused by subclinical channelopathies such as Brugada syndrome. Our objective is to study the clinical behaviour of a new SCN5A mutation found in a woman with idiopathic ventricular fibrillation. A 53-year-old woman presented with multiple episodes of ventricular fibrillation, a structurally normal heart and normal baseline electrocardiogram. Genetic testing included KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2 and KCNJ2 and identified a mutation in SCN5A (D1816fs/g98747-98748insT. We studied 15 immediate family members by means of electrocardiogram, echocardiogram, flecainide challenge test and genetic study. Eight subjects had the mutation. The flecainide challenge test was positive for Brugada syndrome in two subjects in the case group and none in the control group. The PR and QRS intervals on the baseline electrocardiogram were longer in the case group. The left atrial volume indexed to body surface was higher in the case group, likely due to the fact that two patients with the mutation had atrial fibrillation and none had it in the control group. The D1816fs/g98747-98748insT mutation in SCN5A may be associated with idiopathic ventricular fibrillation and Brugada syndrome with a broad phenotypic spectrum and incomplete penetrance. Genetic testing may be useful to identify the etiology of idiopathic ventricular fibrillation in patients with a negative thorough clinical evaluation.

  11. Recurrent cardiac events in patients with idiopathic ventricular fibrillation, excluding patients with the Brugada syndrome

    Philippon François


    Full Text Available Abstract Background The recurrence of cardiac events in patients with idiopathic ventricular fibrillation (VF excluding patients with the Brugada syndrome is unclear since this entity remains present in previous studies. Methods Since 1992, 18 patients (72% male with idiopathic VF out of 455 ICD implants were treated with an implantable cardioverter defibrillator (ICD. The mean age at first ICD implantation was 42 ± 14 years. Brugada syndrome, as well as other primary electrical diseases (e.g. long QT, were systematically excluded in all patients by the absence of the typical electrocardiogram (ST elevation in the right precordial leads at rest and/or after pharmacological tests (ajmaline, flecainide, or procainamide. Recurrence of cardiac events was prospectively assessed. Results During a mean follow-up period of 41 ± 27 months, VF recurrence with appropriate shock occurred in 7 patients (39% covering a total of 27 shocks. The median time to first appropriate shock was 12 ± 9 months. There were no deaths. In the electrophysiological study, 39% of patients were inducible, but inducibility failed to predict subsequent arrhythmic events. Forty-four percent of patients suffered 21 inappropriate shocks, which were caused by sinus tachycardia, atrial arrhythmias or lead malfunction. Conclusion Idiopathic ventricular fibrillation patients have a high recurrence rate of potentially fatal ventricular arrhythmias, excluding patients with the Brugada syndrome or other known causes. ICD prevents sudden cardiac death but inappropriate shocks remained a major issue in this young and active population.

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

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


    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...

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

    Bezzina, Connie; Barc, Julien; Mizusawa, Yuka;


    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...

  14. Sudden Cause of Cardiac Death—Be Aware of Me: A Case Report and Short Review on Brugada Syndrome

    Jagadeesh K. Kalavakunta


    Full Text Available Introduction. Brugada syndrome accounts for about 4% of sudden cardiac deaths (SCD. It is characterized by an ST-segment elevation in the right precordial electrocardiogram (EKG leads. Case Presentation. We describe a 39-year-old healthy Caucasian man who was admitted to the intensive care unit after being cardioverted from ventricular fibrillation (VF arrest. His past history was significant for an episode of syncope one month prior to this presentation for which he was admitted to an outlying hospital. EKG during that admission showed ST elevations in V1 and V2 leads, a pattern similar to Type 1 Brugada. A diagnosis of Brugada syndrome was missed and the patient had a cardiac arrest a month later. We discuss a short review of Brugada syndrome and emphasize the need to look for it in patients presenting with SCD and malignant arrhythmias. Conclusion. Physicians should always consider Brugada syndrome in the differential diagnosis of ST-segment elevation in anterior precordial leads of EKG and associated VT/VF. Although more than 17 years have passed since the first case was reported, increased awareness of this syndrome is needed to identify patients with EKG changes and treat them accordingly to prevent incidence of (SCD and its deleterious complications.

  15. Atypical Cause of Syncope in Patients with Brugada Syndrome

    Javier Lacunza-Ruiz


    Full Text Available Examination of a 32 year old male with chest pain and suggestive Brugada ECG pattern was sent to our outpatient clinic for cardiac evaluation. The patient denied having suffered any previous syncope. He had a positive history of intravenous drug abuse and was HBV+. There were no sudden deaths, although there was important consanguinity in the family. A complete cardiac study was carried out, including a drug challenge test with a sodium channel blocker (flecainide that confirmed the diagnosis (Figure 1. The echocardiogram, 24 hours ECG holter monitoring, and electrophysiological study (ventricular programmed stimulation with up to three extrastimuli and three basic cycle lengths from right ventricular apex and outflow tract, were normal. A blood sample was taken for genetic testing, clinical check-up were recommended and a family study was started.

  16. Detección de un síndrome de Brugada en un reconocimiento médico laboral Detection of a Brugada syndrome in a occupational medical examination

    María Isabel Ruiz


    Full Text Available El síndrome de Brugada es una cardiopatía genética y no estructural debida a una alteración primaria de los canales iónicos del miocardio y que se asocia a un riesgo de muerte súbita. Hay tres patrones electrocadiográficos diagnósticos o sugerentes de síndrome de Brugada, que pueden ser identificados en un reconocimiento médico rutinario y que, de confirmarse el diagnóstico, pueden llevar a la necesidad de implantar un desfibrilador automático que puede salvar la vida del paciente. Se presente un caso asintomático diagnosticado en un reconocimiento laboral y se revisa la conducta a seguir ante un síndrome de Brugada.Brugada syndrome is a genetic, non-structural heart disease caused by a primary alteration of the myocardial ion channels and it is associated with increased risk of sudden death. There are three electrocardiographic patterns diagnostic or suggestive of Brugada syndrome which can be identified in routine medical examinations. If the diagnosis is confirmed, implantation of an automatic defibrillator may be life-saving. We report an asymptomatic case of Brugada syndrome diagnosed during an occupational health check and review the steps to be followed after diagnosis of this syndrome.

  17. A Novel Anaesthetical Approach to Patients with Brugada Syndrome in Neurosurgery

    Pietro Paolo Martorano


    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.

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

    Petitprez, Séverine; Jespersen, Thomas; Pruvot, Etienne;


    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...

  19. SCN1Bb R214Q found in 3 patients: 1 with Brugada syndrome and 2 with lone atrial fibrillation

    Olesen, Morten S; Holst, Anders G; Haunsø, Stig;


    BACKGROUND: SCN1Bb encodes the ß-subunit of the sodium channel. A mutation in SCN1Bb R214Q has recently been shown both to increase the Kv4.3 current and to decrease the sodium current. The variant was suggested to increase the susceptibility to Brugada syndrome (BrS). OBJECTIVE: To sequence a...

  20. The Brugada syndrome: a complex cardiological problem in the experience of the specialist in internal medicine

    F. Frabetti


    Full Text Available BACKGROUND Brugada syndrome, a disease burdened by elevated risk of sudden unexpected cardiac death, often affects young aged subjects that have structurally healthy heart. The diagnostic itinerary is complex: anamnesis, ECG, pharmacological test and electrophysiological study. Its phenotypes are three. METHOD We have identified 13 cases (10 men and 3 women, 12 estimated at the Cardiological Outpatients’ Department and 1 at the First-aid Station. RESULTS 2 cases belonged to phenotype 1, 4 cases to phenotype 2 and 7 cases to phenotype 3. CONCLUSIONS Our work of specialists in internal medicine, toward this syndrome, is: an accurate anamnesis, a correct interpretation of ECG, fast sending of high risk cases to advanced level cardiological competences, a selection of cases to submit to pharmacological test, to address middle risk patients to cardiological competences, offering our cooperation in the follow-up.

  1. Electrocardiographic methods for diagnosis and risk stratification in the Brugada syndrome.

    Naseef, Abdulrahman; Behr, Elijah R; Batchvarov, Velislav N


    The Brugada syndrome (BrS) is a malignant, genetically-determined, arrhythmic syndrome manifesting as syncope or sudden cardiac death (SCD) in individuals with structurally normal hearts. The diagnosis of the BrS is mainly based on the presence of a spontaneous or Na + channel blocker induced characteristic, electrocardiographic (ECG) pattern (type 1 or coved Brugada ECG pattern) typically seen in leads V1 and V2 recorded from the 4th to 2nd intercostal (i.c.) spaces. This pattern needs to be distinguished from similar ECG changes due to other causes (Brugada ECG phenocopies). This review focuses mainly on the ECG-based methods for diagnosis and arrhythmia risk assessment in the BrS. Presently, the main unresolved clinical problem is the identification of those patients at high risk of SCD who need implantable cardioverter-defibrillator (ICD), which is the only therapy with proven efficacy. Current guidelines recommend ICD implantation only in patients with spontaneous type 1 ECG pattern, and either history of aborted cardiac arrest or documented sustained VT (class I), or syncope of arrhythmic origin (class IIa) because they are at high risk of recurrent arrhythmic events (up to 10% or more annually for those with aborted cardiac arrest). The majority of BrS patients are asymptomatic when diagnosed and considered to have low risk (around 0.5% annually) and therefore not indicated for ICD. The majority of SCD victims in the BrS, however, had no symptoms prior to the fatal event and therefore were not protected with an ICD. While some ECG markers such as QRS fragmentation, infero-lateral early repolarisation, and abnormal late potentials on signal-averaged ECG are known to be linked to increased arrhythmic risk, they are not sufficiently sensitive or specific. Potential novel ECG-based strategies for risk stratification are discussed based on computerised methods for depolarisation and repolarisation analysis, a composite approach targeting several major




    Full Text Available The clinical presentation of BS varies from patients being asymptomatic, to having a history of syncope, seizures, palpitations, nocturnal agonal respiration, and aborted sudden death and the majority of patients have a family history of sudden death or ma lignant arrhythmias. It is important for the anesthesiologist to be familiar with Brugada syndrome since known and unknown BS patients may present for surgery. Investigations revealed an haemoglobin of 9.3gm/dl, serum creat - 0.73, normal electrocardiogram ( ECG and serum electrolytes and blood sugar level were within normal range. ECG showed ventricular fibrillation followed by asystole. Immediate Cardiopulmonary resuscitation (CPR was initiated and inj adrenaline 1 in 10000 1mg iv given. Rest of the period of ICU stay was uneventful while adequate analgesia/and sedation along with close monitoring was done

  3. A transient outward potassium current activator recapitulates the electrocardiographic manifestations of Brugada syndrome

    Calloe, Kirstine; Cordeiro, Jonathan M; Di Diego, José M;


    AIMS: Transient outward potassium current (I(to)) is thought to be central to the pathogenesis of the Brugada syndrome (BrS). However, an I((to)) activator has not been available with which to validate this hypothesis. Here, we provide a direct test of the hypothesis using a novel I(to) activator...... endocardium, and accentuated the ECG J-wave, leading to the development of phase 2 re-entry and polymorphic ventricular tachycardia (n = 9). Although sodium and calcium channel blockers are capable of inducing BrS only in right ventricular (RV) wedge preparations, the I(to) activator was able to induce the....... Our findings also suggest that a genetic defect leading to a gain of function of I(to) could explain variants of BrS, in which ST-segment elevation or J-waves are evident in both right and left ECG leads....

  4. A Case of Isolated Left Ventricular Noncompaction with Basal ECG-Tracing Strongly Suggestive for Type-2 Brugada Syndrome

    Maria Banci


    Full Text Available Isolated left ventricular noncompaction (ILVNC is a cardiomyopathy caused by intrauterine arrest of compaction of the myocardial fibres and meshwork, an important process in myocardial development. ILVNC is clinically accompanied by depressed ventricular function, arrhythmias, and systemic embolization. We reported a case of ILVNC with basal ECG-tracing strongly suggestive for type-2 Brugada syndrome (BrS. Up to now, this is the first report investigating the association between ILVNC and this particular ECG pattern.

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

    Batchvarov V. N.


    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

  6. Prevalence, clinical characteristics and management of atrial fibrillation in patients with Brugada syndrome.

    Rodríguez-Mañero, Moisés; Namdar, Mehdi; Sarkozy, Andrea; Casado-Arroyo, Rubén; Ricciardi, Danilo; de Asmundis, Carlo; Chierchia, Gian-Battista; Wauters, Kristel; Rao, Jayakeerthi Y; Bayrak, Fatih; Van Malderen, Sophie; Brugada, Pedro


    Atrial fibrillation (AF) can be the first manifestation of latent Brugada syndrome (BS). The aim of our study was to assess the prevalence of AF as the first clinical diagnosis in patients with BS and their demographic and clinical characteristics and diagnosis management in a large cohort of patients. The patient group consisted of 611 patients with BS. The data from those with a diagnosis of AF previous to the identification of BS were analyzed (n = 35). Eleven cases were unmasked after the initiation of a class I antiarrhythmic drug and one during the establishment of general anesthesia. In the remaining population, BS was diagnosed using an ajmaline test performed mainly because of younger age in patients with lone AF (n = 13), previous syncope or sudden cardiac death (n = 3), or a clinical history of sudden cardiac death in the family (n = 5). The mean patient age was 49 ± 15 years, 21 were male patients, 14 had a family history of sudden death, 15 had had previous syncope, and 4 had survived cardiac arrest. Concomitant electrical disorder was found in 13 patients. Remarkably, 21 patients had normal findings on the baseline electrocardiogram. In conclusion, AF could be one of the first clinical manifestations of latent BS in a considerable number of patients. This identification is crucial because the treatment of these patients is subject to relevant changes. The ajmaline test plays an essential role, mainly in young patients with a family history of sudden death, despite having normal findings on a baseline electrocardiogram. PMID:23206922

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

    Melissa Dakkak


    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.

  8. Brugada phenocopy: A new electrocardiogram phenomenon

    Anselm, Daniel D; Evans, Jennifer M; Baranchuk, Adrian


    Brugada phenocopies (BrP) are clinical entities that are etiologically distinct from true congenital Brugada syndrome. BrP are characterized by type 1 or type 2 Brugada electrocardiogram (ECG) patterns in precordial leads V1-V3. However, BrP are elicited by various underlying clinical conditions such as myocardial ischemia, pulmonary embolism, electrolyte abnormalities, or poor ECG filters. Upon resolution of the inciting underlying pathological condition, the BrP ECG subsequently normalizes....

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

    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

  10. Compound heterozygous SCN5A gene mutations in asymptomatic Brugada syndrome child

    Elena Sommariva


    Full Text Available Loss-of-function mutations in the SCN5A gene, encoding the cardiac Nav1.5 sodium channel, have been previously associated with Brugada syndrome (BrS. Despite the low prevalence of the disease, we identified a patient carrying two SCN5A mutations. We aimed at establishing a correlation between genotype, clinical phenotype and in vitro sodium current. A 3-year-old boy presented with right bundle branch block and ST-segment elevation. Genetic analysis and electrophysiology studies in transfected HEK293 cells were performed to identify possibly disease-causing variants and assess their effect on sodium channel function. Two SCN5A variants were identified: a new frameshift deletion causing premature truncation of the putative protein (c.3258_3261del4 and a missense substitution (p.F1293S. In vitro studies revealed that the truncated mutant did not produce functional channels and decreased total sodium current when co-expressed with p.F1293S channels compared to p.F1293S alone. In addition, p.F1293S channels presented with a steep slope of steady-state activation voltagedependency, which was shifted towards more positive potentials by the co-expression with the truncated channel. p.F1293S channels also showed shift towards more positive potentials of the steady-state inactivation both alone and co-expressed with the deletion mutant. Our data identified a severe reduction of sodium channel current associated with two distinct SCN5A changes. However, all mutation carriers were asymptomatic and BrS electrocardiogram was observed only transiently in the compound heterozygous subject. These observations underline the difficulty of genotype/ phenotype correlations in BrS patients and support the idea of a polygenic disorder, where different mutations and variants can contribute to the clinical phenotype.

  11. Tachyarrhythmia Cycle Length in Appropriate versus Inappropriate Defibrillator Shocks in Brugada Syndrome, Early Repolarization Syndrome, or Idiopathic Ventricular Fibrillation

    Lee, Woo Seok; Kwon, Chang-Hee; Choi, Jin Hee; Jo, Uk; Kim, Yoo Ri; Nam, Gi-Byoung; Choi, Kee-Joon; Kim, You-Ho


    Background and Objectives Implantable cardioverter–defibrillators (ICDs) are indicated in patients with Brugada syndrome (BS), early repolarization syndrome (ERS), or idiopathic ventricular fibrillation (IVF) who are at high risk for sudden cardiac death. The optimal ICD programming for reducing inappropriate shocks in these patients remains to be determined. We investigated the difference in the mean cycle length of tachyarrhythmias that activated either appropriate or inappropriate ICD shocks in these three patient groups to determine the optimal ventricular fibrillation (VF) zone for minimizing inappropriate ICD shocks. Subjects and Methods We selected 41 patients (35 men) (mean age±standard deviation=42.6±13.0 year) who received ICD shocks between April 1996 and April 2014 to treat BS (n=24), ERS (n=9), or IVF (n=8). Clinical and ICD interrogation data were retrospectively collected and analyzed for all events with ICD shocks. Results Of the 244 episodes, 180 (73.8%) shocks were appropriate and 64 (26.2%) were inappropriate. The mean cycle lengths of the tachyarrhythmias that activated appropriate and inappropriate shocks were 178.9±28.7 ms and 284.8±24.4 ms, respectively (pIVF could reduce inappropriate ICD shocks, with a low risk of missing appropriate shocks. PMID:27014348

  12. Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome

    Callø, Kirstine; Refaat, Marwan M.; Grubb, Søren;


    Brugada syndrome is a heterogeneous heart rhythm disorder characterized by an atypical right bundle block pattern with ST-segment elevation and T-wave inversion in the right precordial leads. Loss-of-function mutations in SCN5A encoding the cardiac sodium channel Na(V)1.5 are associated with Brug...

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

    Yuan, Lei; Koivumaki, Jussi; Liang, Bo;


    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 have...

  14. Key clinical features a general internist needs to know about Brugada syndrome: a case-based discussion

    WuQiang Fan


    Full Text Available Introduction: Brugada syndrome (BrS is an autosomal dominant genetic disorder involving the abnormal function of cardiac voltage-gated sodium ion channels. Sodium channel loss of function can lead to early repolarization and loss of the Phase 2 action potential dome in cardiomyocytes. In BrS, this sodium channelopathy occurs in some, but not all, epicardial cells thus creating 1 juxtaposition of depolarized and repolarized cells in the epicardium and 2 a transmural voltage gradient. Together, these conditions can set up a Phase 2 reentry and resultant malignant cardiac arrhythmia. Of the three types of electrocardiogram (EKG changes seen in BrS, only the Type 1 EKG is considered diagnostic. In a controlled setting, sodium channel blockers and Brugada EKG leads may be used to unmask this diagnostic EKG finding. Fever and certain medications that interfere with the sodium channel can also trigger these changes, which can be catastrophic. Case report: A 26-year-old white male presented with febrile upper respiratory infection symptoms and had an EKG change, which was initially misinterpreted as an ST elevated myocardial infarction due to ST-T segment elevation in leads V1 and V2. The patient reported past recurrent syncopal episodes leading to a recent suspected diagnosis of BrS. A later episode of febrile illness, triggering a Type 1 EKG pattern, led to a subsequent hospital admission for continuous cardiac monitoring. On that occasion, he was placed on a wearable external defibrillator pending placement of implantable cardioverter defibrillator (ICD device. Conclusion: Due to the gravity of symptoms that can manifest in the BrS patient, it is important to recognize and treat this condition promptly and effectively. BrS patients require admission for continuous cardiac monitoring when febrile and certain medications interfering with the sodium channel should be avoided in this population. Although medications may be used as one treatment modality

  15. 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

    Carlos J Jaramillo


    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.

  16. Cluster headache with Brugada electrocardiogram pattern: a case report

    Matsuki, Yuka; Hirose, Munetaka; Nakano, Akira; Sarasawa, Katsuhiko; Hamada, Toshio


    Agents including the effect on sodium channel are restricted in patients with Brugada electrocardiogram (ECG) pattern or Brugada syndrome. On the other hand, many therapeutic agents for cluster headache (CH) block sodium channel. After recommended therapies without sodium channel blocking effect were failed in a 40-year-old male with CH whose ECG shows Brugada ECG pattern, clonazepam and codein phosphate, which are exceptional treatments for CH, were effective for severe unilateral orbital pain.

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

    Yoshiyasu Aizawa


    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.

  18. Brugada electrocardiographic pattern elicited by cyclic antidepressants overdose

    Monteban-Kooistra, W; van den Berg, M; Tulleken, J; Ligtenberg, J; Zijlstra, J; Meertens, J.


    Objective:The Brugada syndrome is a clinical and electrocardiographic familial entity, which may lead to sudden cardiac death. A Brugada pattern ECG may occasionally be caused by conditions such as an overdose of tricyclic antidepressants (TCA). Toxicity of TCA frequently results in the need for cri

  19. Transient J-Wave Appearance in the Inferior-Lateral Leads during Electrical Storm in a Patient with Brugada Syndrome

    Yang, Dong-Hyuk; Kwon, Hyuk-jeong; Kim, Jin-Chul; Jang, Ji-Hun; Shin, Sung-Hee; Kwan, Jun; Woo, Sung-Il; Park, Keum-Soo; Kim, Dae-Hyeok


    A 67-year-old male patient was admitted with an abrupt sudden cardiac death. He represented with an extreme electrical storm of 30 times of ventricular fibrillation (VF) episodes on one day. External shocks were performed to terminate VF. Transient J-wave in the inferior-lateral leads and Brugada electrocardiography pattern on the right precordial leads appeared during the electrical storm. And J-wave disappeared after the termination of electrical storm. We report a case of the appearance of...

  20. Síndrome de Brugada durante el embarazo

    Eduardo Reyna Villasmil


    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.

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

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


    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. PMID:25758664

  2. Advances on Genetics Related to Brugada Syndrome%Brugada综合征遗传学若干进展

    潘洁; 姚文亮; 胡康新(综述)


    Brugada综合征为一遗传性致心律失常性疾病,心电图显示右心室导联ST段抬高2 mV与T波倒置,而心脏结构正常,易罹心室颤动和心脏性猝死。 Brugada综合征为常染色体显性遗传伴发不完全性外显,SCN5A基因突变已被确认为Brugada综合征主要致病原因,占接近30%患者;其他16个基因突变也连结到Brugada综合征只占5%,剩下65%Brugada综合征患者无肯定遗传学背景。现综述Brugada综合征遗传学若干进展。%Brugada syndome( BrS) is an inherited arrhythogensic disorder that exhibits ECG ST-segment elevation≥2 mV with a neg-ative T-wave in the right precordial leads( V1 ~V2 ) ,with normal heart structure,predisposing to ventricular fibrillation and sudden cardiac death.Genetically BrS is autosome dominant accompanied by incomplete penetrance,and mutation in SCN5A gene had been identified as the main pathogenic cause of BrS.Besides,other 16 gene mutation also links to BrS,but mutation in SCN5A accounts for approximately 30%and those in other genes 5%,leaving no definitive genetic background in 65%of BrS patients.Some advances on genetics related to BrS were re-viewed in this paper.

  3. Brugada综合征的心电图特征及其影响因素%Electrocardiographic Characteristics and Influencing Factors of Brugada Syndrome

    余剑波; 郭继鸿


    @@ 1991~1992年Brugada J和Brugada P[1]报道8例无明显器质性心脏病而发生心脏性猝死的病人,描述了这些病人的心电图的共同特点:胸前V1~V3导联的QRS波群呈右束支阻滞型以及持续性ST段抬高,但QT间期正常.

  4. Transient loss of consciousness in a patient with a Brugada like ECG

    Belinda Sandler; Steve Furniss; Eric McWilliams


    Syncope in a patient with a Brugada syndrome channelopathy carries significant prognostic implications and warrants consideration of implantable cardioverter defibrillator (ICD) implantation. We report a case of a 62- year-old gentleman who presented with a transient loss of consciousness and an electrocardiogram (ECG) suggestive of type 1 Brugada syndrome. Further investigation revealed evidence of a silent myocardial infarction and negative ventricular tachycardia stimulation and Ajmaline t...

  5. 高位右侧胸前导联对揭示Brugada综合征心电图的有效性%The Effectiveness of High Right Precordial Leads to Reveal Brugada Syndrome ECG



    Objective:To explore the application significance of high right precordial leads in revealing the comprehensive Brugada syndrome ECG.Method:3 families of 9 members with family history of sudden death (precordial showed ST segment elevation) were selected in our hospital from June 2012 to September 2014 as the experimental group,32 healthy subjects at the same period did physical examination were selected in our hospital as the control group,conventional and high right precordial ECG examination were used by two groups,the diagnosis application value of high right precordial leads to Brugada syndrome ECG was explored.Result:In experimental group,9 members were performed physical and ultrasonic beckoning graph examination.Family 1 with routine and high lead the right precordial not showed the electrocardiogram characteristics of Brugada syndrome;family 2 propositus showed the electrocardiogram of J wave with a trend of increase,the J wave with V1’-V3’showed a trend of increase,maintain 0.15-0.5 mV;case 1,3 in family 3,electrocardiogram showed the Brugada syndrome,the J wave with V1"-V3" increased obviously,maintain 0.2-0.7 mV.In 32 healthy subjects,20 cases of routine electrocardiogram showed early repolarization,1 case of V1’-V3’ lead J wave increased,11 cases of V1"-V3" J wave in lead significantly increased,all healthy persons were not matched Brugada syndrome ECG diagnosis standard.Conclusion:Compared with conventional ECG, high right precordial ECG can effectively improve Brugada integrated syndrome ECG diagnosis positive rate,it is should cause enough attention in clinical.%目的:探究高位右侧胸前导联在揭示Brugada综合征心电图征中的应用意义。方法:选取本院2012年6月-2014年9月收治的伴有猝死家族史(心电图胸前导联呈ST段抬高)的3个家系(9个成员)为试验组,另择取同期来本院体查的32例健康体检者为对照组,均行常规与高位右侧胸前导联心电图检查,探

  6. Genetics Home Reference: Brugada syndrome

    ... sodium channel, which normally transports positively charged sodium atoms (ions) into heart muscle cells. This type of ion channel plays a critical role in maintaining the heart's normal rhythm. Mutations in the SCN5A gene alter the structure or function of the channel, which reduces the flow of ...

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

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


    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....

  8. Transient loss of consciousness in a patient with a Brugada like ECG

    Belinda Sandler


    Full Text Available Syncope in a patient with a Brugada syndrome channelopathy carries significant prognostic implications and warrants consideration of implantable cardioverter defibrillator (ICD implantation. We report a case of a 62- year-old gentleman who presented with a transient loss of consciousness and an electrocardiogram (ECG suggestive of type 1 Brugada syndrome. Further investigation revealed evidence of a silent myocardial infarction and negative ventricular tachycardia stimulation and Ajmaline testing. Careful review of the ECG’s subsequently showed the type 1 pattern was present in only V1.

  9. 一个中国大家系Brugada综合征相关基因SCN5A的突变位点检测%Detection of Brugada syndrome related SCN5A gene mutation point in a Chinese large family

    田莉; 祝建芳; 杨钧国; 朱元州; 柯琴梅


    Objective: To study Brugada syndrome related SCN5A gene mutations in a Chinese large family. Methods: Clinical data of a family (n = 43) with Brugada syndrome were collected. Polymerase chain reaction and DNA direct sequencing method were used to detect SCN5A gene mutations in the family, and single strand conformation polymorphism (SSCP) analysis was used to detecting the mutations of SCN5A gene in 126 healthy controls outside the family. Results: A heterozygous mutation was found in Brugada family, namely a missense variation (A1685G) was found at 12th exon of SCN5A gene, leading to 558th codon standing for histidine mutated to arginine (H558R). Conclusion: An already reported missense polymorphism site (H558R) is found in SCN5A gene in Chinese patients with Brugada syndrome.%目的:研究一个中国大家系Brugada综合征相关基因SCN5A的突变情况.方法:收集一个Brugada家系(43例)的临床资料,采用聚合酶链反应及直接测序法对此家系进行SCN5A基因突变检测,同时对136名家系外健康对照者的该位点进行单链构象多态性(SSCP)分析.结果:在Brugada家系中发现了一个杂合变异,即SCN5A基因第12外显子上发现一个错义变异(A1685G),导致代表组氨酸的558位密码子突变为精氨酸(H558R).结论:在中国人Brugada综合征患者的SCN5A基因上发现了一个已经报道的错义多态位点(H558R).

  10. Personality traits and emotional patterns in irritable bowel syndrome.

    Muscatello, Maria Rosaria A; Bruno, Antonio; Mento, Carmela; Pandolfo, Gianluca; Zoccali, Rocco A


    The review focuses on those personality traits (neuroticism, extraversion, openness to experience, agreeableness, and conscientiousness), constructs (alexithymia and distressed - Type D personality) and emotional patterns (negative and positive) that are of particular concern in health psychology, with the aim to highlight their potential role on the pathogenesis, onset, symptom clusters, clinical course, and outcome of irritable bowel syndrome (IBS). Personality traits and emotional patterns play key roles in affecting autonomic, immune, inflammatory, and endocrine functions, thus contributing not only to IBS clinical expression and symptomatic burden, but also to disease physiopathology. In this sense, psychological treatments should address those personality traits and emotional features that are constitutive of, and integral to IBS. The biopsychosocial model of illness applied to IBS acknowledges the interaction between biological, psychological, environmental, and social factors in relation to pain and functional disability. A holistic approach to IBS should take into account the heterogeneous nature of the disorder, and differentiate treatments for different types of IBS, also considering the marked individual differences in prevalent personality traits and emotional patterns. Beyond medications, and lifestyle/dietary interventions, psychological and educational treatments may provide the optimal chance of addressing clinical symptoms, comorbid conditions, and quality of life in IBS patients. PMID:27605876

  11. Brugada综合征2例及Brugada样心电图改变2例报告并文献复习%Report of 2-cases Brugada Syndrome and 2-cases Brugada-typc ECG change and literature review



    1992年Brugada兄弟报道了一种新疾病,表现为晕厥、猝死,由室速或室颤引起,其心电图胸前导联V1-V3导联ST段呈下斜型或马鞍型抬高,称Brugada综合征(Brugada syndrome,Brs)。本文分析我院诊断的2例Brs及Brugada样心电图改变的各2例进行报道并复习文献,探讨心电图Brs的临床特点及发病机理,从而提高人们对Brs的认识,达到准确、早期诊断的目的,防止误诊、误治。

  12. Quantifying hummingbird preference for floral trait combinations: The role of selection on trait interactions in the evolution of pollination syndromes.

    Fenster, Charles B; Reynolds, Richard J; Williams, Christopher W; Makowsky, Robert; Dudash, Michele R


    Darwin recognized the flower's importance for the study of adaptation and emphasized that the flower's functionality reflects the coordinated action of multiple traits. Here we use a multitrait manipulative approach to quantify the potential role of selection acting on floral trait combinations underlying the divergence and maintenance of three related North American species of Silene (Caryophyllaceae). We artificially generated 48 plant phenotypes corresponding to all combinations of key attractive traits differing among the three Silene species (color, height, inflorescence architecture, flower orientation, and corolla-tube width). We quantified main and interaction effects of trait manipulation on hummingbird visitation preference using experimental arrays. The main effects of floral display height and floral orientation strongly influenced hummingbird visitation, with hummingbirds preferring flowers held high above the ground and vertically to the sky. Hummingbirds also prefer traits in a nonadditive manner as multiple two-way and higher order interaction effects were important predictors of hummingbird visitation. Contemporary trait combinations found in hummingbird pollinated S. virginica are mostly preferred. Our study demonstrates the likelihood of pollination syndromes evolving due to selection on trait combinations and highlights the importance of trait interactions in understanding the evolution of complex adaptations. PMID:25765062

  13. Screening for, and management of, possible arrhythmogenic syndromes (channelopathies/ion channel diseases)

    Svendsen, Jesper Hastrup; Geelen, Peter


    This survey assesses the current management strategies for individuals with electrocardiographic features, suggesting an arrhythmogenic syndrome [including long QT syndrome (LQTS), Brugada syndrome (BS), catecholaminergic polymorphic ventricular tachycardia (CPVT) or short QT syndrome] or family...

  14. The genetic component of Brugada syndrome

    Nielsen, Morten; Holst, Anders G; Olesen, Søren Peter;


    . The prevalence varies with ethnicity ranging from 1:2,000 to 1:100,000 in different parts of the world. Today, hundreds of variants in 17 genes have been associated with BrS of which mutations in SCN5A, coding for the cardiac voltage-gated sodium channel, accounts for the vast majority. Despite this......, approximately 70% of BrS cases cannot be explained genetically with the current knowledge. Moreover, the monogenic role of some of the variants previously described as being associated with BrS has been questioned by their occurrence in about 4% (1:23) of the general population as found in NHLBI GO Exome...

  15. EKG-Beispiel: Brugada-Syndrom

    Rauscha F


    Full Text Available Sinusrhythmus 69/min, Quertyp, AV-Block I. Grades, rechtsschenkelblockähnliches Bild mit charakteristischen ST-Hebungen in den rechtspräkordialen Ableitungen V1–V3 (R′ mit sattelförmiger oder zeltförmig deszendierender ST-Hebung 2 mm in V2, schrittmacherstimulierte Vorhofaktion mit normaler Überleitung.

  16. Brugada Syndrome%Brugada綜合徵

    鍾桃娟; 金椿; 鄧錫偉



  17. Brugada Syndrome:Clinical Diagnosis and Treatment with Analysis of Electrocardiogram in Three Cases%Brugada综合征三例临床和心电图诊治分析

    严霞; 孔伟; 曹华


    @@ 1992年西班牙Brugada P及Brugada J[1]两兄弟首先报道了8例右束支传导阻滞+ST段抬高+室性心动过速或心室颤动史的病例.1996年日本Miyazaki等首次将具有典型的心电图特征及临床特点但心脏结构正常的一组临床病例命名为Brugada综合征.据统计,中青年时期突然死于心脏疾病的患者中Brugada综合征占20%[2].本文通过对3例Brugada患者临床及心电图进行分析,探索导致Brugada综合征患者恶性心律失常的发生机制,进一步了解Brugada综合征患者的临床诊断及治疗措施.

  18. Social behavior and autism traits in a sex chromosomal disorder : Klinefelter (47XXY) syndrome

    van Rijn, Sophie; Swaab, Hanna; Aleman, Andre; Kahn, Rene S.


    Although Klinefelter syndrome (47,XXY) has been associated with psychosocial difficulties, knowledge of the social behavioral phenotype is limited. We examined specific social abilities and autism traits in Klinefelter syndrome. Scores of 31 XXY men on the Scale for Interpersonal Behavior and the Au

  19. Personality traits and behavioral syndromes in differently urbanized populations of house sparrows (Passer domesticus.

    Veronika Bókony

    Full Text Available Urbanization creates novel environments for wild animals where selection pressures may differ drastically from those in natural habitats. Adaptation to urban life involves changes in various traits, including behavior. Behavioral traits often vary consistently among individuals, and these so-called personality traits can be correlated with each other, forming behavioral syndromes. Despite their adaptive significance and potential to act as constraints, little is known about the role of animal personality and behavioral syndromes in animals' adaptation to urban habitats. In this study we tested whether differently urbanized habitats select for different personalities and behavioral syndromes by altering the population mean, inter-individual variability, and correlations of personality traits. We captured house sparrows (Passer domesticus from four different populations along the gradient of urbanization and assessed their behavior in standardized test situations. We found individual consistency in neophobia, risk taking, and activity, constituting three personality axes. On the one hand, urbanization did not consistently affect the mean and variance of these traits, although there were significant differences between some of the populations in food neophobia and risk taking (both in means and variances. On the other hand, both urban and rural birds exhibited a behavioral syndrome including object neophobia, risk taking and activity, whereas food neophobia was part of the syndrome only in rural birds. These results indicate that there are population differences in certain aspects of personality in house sparrows, some of which may be related to habitat urbanization. Our findings suggest that urbanization and/or other population-level habitat differences may not only influence the expression of personality traits but also alter their inter-individual variability and the relationships among them, changing the structure of behavioral syndromes.

  20. Brugada 综合征1例



    @@ Brugada综合征是西班牙学者Brugada 1992年首先报道的[1].是没有心脏结构改变而具有特异性的心电图表现,能反复发生室颤而引起的心脏猝死的一种新的心脏综合征.我院于2002年6月遇到1例Brugada综合征患者现报告如下.

  1. Brugada phenocopy:emergence of a new clinical entity%Brugada拟表型:一个新的临床实体

    Byron H Gottschalk; Daniel D Anselm; Adrian Baranchuk; 蒋祖勋(译)(审校)


    Brugada phenocopies (BrP)are clinical entities that present with ECG patterns iden-tical to true Brugada syndrome (BrS)but are induced by various clinical conditions.They are char-acterized by type 1 or type 2 Brugada ECG patterns in precordial leads (V1 -V3 )that present dur-ing an associated underlying condition.Upon resolution of the underlying condition,these ECG pat-terns normalize.In this study,we reviewed the classification of BrP,methods for differentiating BrP from BrS,and recently discussed etiologies of BrP.In addition,we provided an update on the inter-national online registry for BrP and discussed future directions in BrP research.%Brugada 拟表型(Brugada phenocopy,BrP)是临床实体,它与真正的 Brugada 综合征(Brugada syndrome,BrS)具有相同的心电图波形,但前者是由各种临床状况诱发的。在某种相关的潜隐状况下,BrP 的特征表现为心前区导联 V1~V3呈1型或2型 Brugada 心电图波形。随着潜隐状况的纠正,这些心电图波形恢复正常。本研究中,我们回顾了 BrP 的分类、与 BrS鉴别的方法及有关 BrP 病因的最新研究结果。此外,我们提供了 BrP 国际在线注册的更新数据,并讨论了 BrP 未来的研究方向。

  2. Multiple arrhythmic syndromes in a newborn, owing to a novel mutation in SCN5A

    Calloe, Kirstine; Schmitt, Nicole; Grubb, Søren;


    Mutations in the SCN5A gene have been linked to Brugada syndrome (BrS), conduction disease, Long QT syndrome (LQT3), atrial fibrillation (AF), and to pre- and neonatal ventricular arrhythmias.......Mutations in the SCN5A gene have been linked to Brugada syndrome (BrS), conduction disease, Long QT syndrome (LQT3), atrial fibrillation (AF), and to pre- and neonatal ventricular arrhythmias....

  3. Genetic mapping of quantitative trait loci affecting susceptibility in chicken to develop pulmonary hypertension syndrome.

    Rabie, T S K M; Crooijmans, R P M A; Bovenhuis, H; Vereijken, A L J; Veenendaal, T; van der Poel, J J; Van Arendonk, J A M; Pakdel, A; Groenen, M A M


    Pulmonary hypertension syndrome (PHS), also referred to as ascites syndrome, is a growth-related disorder of chickens frequently observed in fast-growing broilers with insufficient pulmonary vascular capacity at low temperature and/or at high altitude. A cross between two genetically different broiler dam lines that originated from the White Plymouth Rock breed was used to produce a three-generation population. This population was used for the detection and localization of quantitative trait loci (QTL) affecting PHS-related traits. Ten full-sib families consisting of 456 G2 birds were typed with 420 microsatellite markers covering 24 autosomal chromosomes. Phenotypic observations were collected on 4202 G3 birds and a full-sib across family regression interval mapping approach was used to identify QTL. There was statistical evidence for QTL on chicken chromosome 2 (GGA2), GGA4 and GGA6. Suggestive QTL were found on chromosomes 5, 8, 10, 27 and 28. The most significant QTL were located on GGA2 for right and total ventricular weight as percentage of body weight (%RV and %TV respectively). A related trait, the ratio of right ventricular weight as percentage to total ventricular weight (RATIO), reached the suggestive threshold on this chromosome. All three QTL effects identified on GGA2 had their maximum test statistic in the region flanked by markers MCW0185 and MCW0245 (335-421 cM). PMID:16293119

  4. Comparative analysis of autistic traits and behavioral disorders in Prader-Willi syndrome and Asperger disorder.

    Song, Dae Kwang; Sawada, Masayuki; Yokota, Shingo; Kuroda, Kenji; Uenishi, Hiroyuki; Kanazawa, Tetsufumi; Ogata, Hiroyuki; Ihara, Hiroshi; Nagai, Toshiro; Shimoda, Kazutaka


    Prader-Willi syndrome (PWS) is a neuro-genetic disorder caused by the absence/loss of expression of one or more paternally expressed genes on chromosome 15 (q11-13). In this study, a comparative analysis of intelligence level and autistic traits was conducted between children with PWS (n = 30; 18 males, 12 females; age = 10.6 ± 2.8 years) and those with Asperger disorder (AD; n = 31; 24 males, 7 females; age = 10.5 ± 3.1 years). The children were compared by age group: lower elementary school age (6-8 years), upper elementary school age (9-12 years), and middle school age (13-15 years). As results, the intelligence levels of children with PWS were significantly lower than those with AD across all age groups. Autistic traits, assessed using the Pervasive Developmental Disorders Autism Society Japan Rating Scale (PARS), revealed that among elementary school age children, those with PWS had less prominent autistic traits than those with AD, however, among middle school age children, those with PWS and AD showed similar prominence. An analysis of the PARS subscale scores by age group showed that while the profiles of autistic traits for children with PWS differed from those of children with AD at elementary school age, the profiles showed no significant differences between the groups at middle school age. The findings suggest that autistic traits in PWS become gradually more prominent with increasing of age and that these autistic traits differ in their fundamental nature from those observed in AD. PMID:25388910

  5. Personality over ontogeny in zebra finches: long-term repeatable traits but unstable behavioural syndromes.

    Wuerz, Yvonne; Krüger, Oliver


    A crucial assumption of animal personality research is that behaviour is consistent over time, showing a high repeatability within individuals. This assumption is often made, sometimes tested using short time intervals between behavioural tests, but rarely thoroughly investigated across long time intervals crossing different stages of ontogeny. We performed such a longitudinal test across three life stages in zebra finches (Taeniopygia guttata), representing about 15-20% of their life span in captivity, and found repeatabilities ranging from 0.03 to 0.67. Fearlessness and exploration were the most repeatable traits both within and across life stages. Activity and aggression were repeatable across, but not or only partly within life stages. Boldness was not repeatable. Furthermore, we found no evidence for a consistent behavioural syndrome structure across ontogeny. Our results indicate that the consistency of behavioural traits and their correlations might be overestimated and suggest that life-long stability of animal personality should not simply be assumed. PMID:26813709

  6. Brugada ECG Sign & Chest Pain Mimicking ST Elevation Myocardial Infarction

    Omar Mousa


    Full Text Available Background: Management of patients with the brugada ECG sign who have no previous history of syncope is still negotiable. We present a case of a 57 year-old Caucasian lady who presented to the emergency department with substernal chest pain. Results: Her past medical history showed that she had two previous episodes of lightheadedness, but no syncope. She had a family history of sudden death secondary to unknown cause in her aunt at the age of 61. Physical exam was unremarkable except for diaphoresis. Electrocardiography (ECG showed ST elevation in the right precordial leads (V1-V2 with T inversion, mimicking a STEMI. Emergent cardiac catheterization revealed normal coronary arteries. Echocardiogram was normal. Again, interpretation of ECG revealed a Brugada type 1 pattern, characterized by coved-type, gradually descending ST-T segment, elevated J point of more than 2 mm and T wave inversion. Electrophysiological (EPS testing with a Sodium channel blocker challenge showed a persistent Brugada type 1 pattern with non inducible ventricular tachycardia. This patient had Brugada type 1 ECG pattern with no previous history of syncope (asymptomatic. Thus she was considered at low risk of developing a serious arrhythmogenic event in the future. Conclusion: A history of syncope remains the best available predictor for arrhythmogenic events. EPS testing in such patients, to stratify the risk and predict for any future events, is still controversial. It is still unjustified to place an implantable cardioverter-defibrillator in asymptomatic non-inducible individuals with the Brugada pattern. These patients should follow up closely with a cardiologist and be aware of the risk of possible triggers of ventricular arrhythmias.

  7. SCN5A mutation in patients with Brugada electrocardiographic pattern induced by fever



    Objective To explore the relationship between SCN5A,SCN1b,SCN3b and GPD1L genotypes and the risk of malignant arrhythmia in patients with Brugada electrocardiographic pattern induced by fever.Methods The clinical data and peripheral blood of patients with Brugada electrocardiographic pattern induced by fever were

  8. Molecular genetics and functional anomalies in a series of 248 Brugada cases with 11 mutations in the TRPM4 channel.

    Hui Liu

    Full Text Available Brugada syndrome (BrS is a condition defined by ST-segment alteration in right precordial leads and a risk of sudden death. Because BrS is often associated with right bundle branch block and the TRPM4 gene is involved in conduction blocks, we screened TRPM4 for anomalies in BrS cases. The DNA of 248 BrS cases with no SCN5A mutations were screened for TRPM4 mutations. Among this cohort, 20 patients had 11 TRPM4 mutations. Two mutations were previously associated with cardiac conduction blocks and 9 were new mutations (5 absent from ~14'000 control alleles and 4 statistically more prevalent in this BrS cohort than in control alleles. In addition to Brugada, three patients had a bifascicular block and 2 had a complete right bundle branch block. Functional and biochemical studies of 4 selected mutants revealed that these mutations resulted in either a decreased expression (p.Pro779Arg and p.Lys914X or an increased expression (p.Thr873Ile and p.Leu1075Pro of TRPM4 channel. TRPM4 mutations account for about 6% of BrS. Consequences of these mutations are diverse on channel electrophysiological and cellular expression. Because of its effect on the resting membrane potential, reduction or increase of TRPM4 channel function may both reduce the availability of sodium channel and thus lead to BrS.

  9. Brugada 综合征的药物和非药物治疗



    @@ Brugada 综合征可定义为既往有Brugada 心电图波形改变、有由室颤(VF)引致的晕厥、心脏骤停或是有猝死的家族史.所谓Brugada 心电图则表现为窦性心律时V1导联的右束支传导阻滞样的R波(late)和右胸导联V1~V3的ST段下斜型(coved)以及马鞍型(saddleback)ST上抬.

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

    Shwetal Goraksha


    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.

  11. Prevalencia de patrones electrocardiográficos tipo Brugada en un centro de monitoreo cardíaco transtelefónico en El Salvador

    Hugo Alberto Abrego


    Full Text Available Introducción: Desde que se definieron los criterios que permiten diagnosticar el síndrome de Brugada, se han realizado varios estudios para determinar la prevalencia en el electrocardiograma (ECG de los pacientes con esta enfermedad. El objetivo de esta investigación fue determinar la prevalencia de los distintos patrones electrocardiográficos tipo Brugada (PETB en una población con acceso a monitoreo electrocardiográfico transtelefónico en El Salvador. Métodos: Todos los ECGs recibidos desde el 1/1/2002 hasta el 1/12/2004 en un centro de monitoreo transtelefónico fueron analizados por 2 cardiólogos de manera independiente. Los pertenecientes a pacientes a quienes se les diagnosticó enfermedad cardiovascular estructural y los de quienes tomaban fármacos de acción cardiovascular fueron excluidos. Resultados: De un total de 11669 ECGs de igual número de pacientes, algún PETB se encontró en 81 pacientes (0.7%. El promedio de edad de los pacientes fue de 36.4 ± 15.4 años; 64.6% de ellos eran masculinos. En 5 pacientes (6,17% se encontró el patrón tipo 1, todos estaban asintomáticos y en 1 se colocó un cardiodesfibrilador implantable por tener arritmia ventricular maligna inducible. El patrón tipo 2 fue el más frecuente (59 pacientes, 72,83% y solo se encontraron 17 pacientes con patrón tipo 3 (20,98%, todos asintomáticos. Conclusión: El electrocardiograma con PETB no es raro en esta población de El Salvador. Hay aproximadamente 1 PETB por cada 144 individuos y 1 caso de PETB tipo 1 por cada 2334 individuos de consulta general.Aim: Since the diagnostic criteria for the Brugada syndrome were defined, several studies have been made to calculate the electrocardiographic prevalence of this disease. The objective of this study was to define the prevalence of the different Brugada-type patterns in a population with access to transtelephonic electrocardiographic monitoring in El Salvador. Methods: All the electrocardiograms (ECG

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

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


    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....

  13. Prevalence of Brugada-type ECG pattern and early ventricular repolarization pattern in Tunisian athletes

    Ouali S


    Full Text Available Sana Ouali1, Helmi Ben Salem1, Sami Hammas1, Elyes Neffeti1, Fahmi Remedi1, Abdallah Mahdhaoui2, Essia Boughzela1, Rafik Mankai31Department of Cardiology, Sahloul Hospital, Sousse, Tunisia; 2Department of Cardiology, Farhat Hached, Sousse, Tunisia; 3Central Sports Medicine Centre of El Menzah, TunisiaIntroduction: No data regarding the prevalence of the Brugada-type electrocardiogram (ECG pattern and the early ventricular repolarization pattern (ERP in the North African population were available. The aims of this study were to determine the frequency of Brugada-type ECG pattern and ERP in Tunisia and to evaluate ECG descriptors of ventricular repolarization in a population of athletes.Methods: Over a 2-year period, resting 12-lead ECG recordings were analyzed from athletes (n = 540; 348 males; age 18.3 ± 2.4 years. Brugada-type ECG pattern was defined as Type 1, 2, or 3, and ERP was characterized by an elevation of the J point in the inferior and/or lateral leads. The population was divided into three groups of athletes: ERP group; Brugada-type ECG pattern group; and control group, with neither ERP nor Brugada ECG pattern. Clinical and electrocardiographic parameters were compared among the study groups.Results: Nine subjects (1.66% had a Brugada-type ECG pattern. None of them had the coved-type, 3 (0.6% had the Type 2, and 6 (1.1% had the Type 3. All subjects were asymptomatic. A Brugada-type ECG pattern was observed in seven males. No female had the Type 2 Brugada ECG pattern. ECG parameters were similar among Brugada-type ECG pattern and control athletes. ERP (119 subjects, 22% was obtained in 98 males. Heart rate was lower, the QRS duration shorter and QT and Tpeak–Tend intervals were longer in ERP than control groups.Conclusion: The results indicate that the frequency of the Brugada-type ECG pattern and ERP were respectively 1.66% and 22.00% in athletes, being more prevalent in males. The ERP group experienced shorter QRS duration and

  14. 伪差性 Brugada 波3例

    陈静; 丁颖; 龚辉; 徐泽芹


    随着对 Brugada 波认识的加深,心电图发现Brugada波也越来越多,但伪差性Brugada波尚未见报道。现将笔者遇到的3例报道如下。  1典型病例  例1王某,男,39岁,因偶感胸闷自行要求做心电图检查。心电图表现:V1导联ST段抬约0.1 mV,V2导联ST段马鞍型抬高0.3 mV,其他导联ST段未见异常改变(图1)。心电图诊断:窦性心律, Brugada波。

  15. Obsessive–compulsive traits in children and adolescents with Asperger syndrome

    Ruta, Liliana; Mugno, Diego; D’Arrigo, Valentina Genitori; Vitiello, Benedetto; Mazzone, Luigi


    Abstract The objective of this study is to examine the occurrence and characteristic features of obsessive?compulsive behaviours in children and adolescents with Asperger syndrome (AS), with respect to a matched obsessive compulsive disorder group (OCD) and a typically developing control group (CG). For this purpose, 60 subjects (20 OCD; 18 AS; 22 CG), aged 8?15 years, matched for age, gender and IQ were compared. AS and OCD patients were diagnosed according to the DSM-IV-TR criter...

  16. Correlation between blood biochemical indexes and common carotid ultrasound traits in males with metabolic syndrome

    Objective: To determine the independent predictors of common carotid intima-media thickness (CC-IMT) and to establish the optimum binary classification equation of CC-IMT in males with metabolic syndrome (MS). Methods: The study retrospectively analyzed some indexes of 153 male adults (109 patients with MS and 44 healthy controls) who underwent the B-mode ultrasonography test. Results: The level of lumen Diameter of common carotid artery was significantly increased (Pmean of common carotid artery reduced remarkably (Pmean entered the optimum binary classification equation. Conclusion: The components of MS, especially BMI, can thicken CC-IMT and slow down Vmean. (authors)

  17. Environment, host, and fungal traits predict continental-scale white-nose syndrome in bats

    Hayman, David T.S.; Pulliam, Juliet R.C.; Marshall, Jonathan C.; Cryan, Paul M.; Webb, Colleen T.


    White-nose syndrome is a fungal disease killing bats in eastern North America, but disease is not seen in European bats and is less severe in some North American species. We show that how bats use energy during hibernation and fungal growth rates under different environmental conditions can explain how some bats are able to survive winter with infection and others are not. Our study shows how simple but nonlinear interactions between fungal growth and bat energetics result in decreased survival times at more humid hibernation sites; however, differences between species such as body size and metabolic rates determine the impact of fungal infection on bat survival, allowing European bat species to survive, whereas North American species can experience dramatic decline.

  18. Right ventricular dysfunction in patients with Brugada-like electrocardiography: a two dimensional strain imaging study

    Murata Kazuya


    Full Text Available Abstract Background Sodium channel blockers augment ST-segment elevation in the right precordial leads in patients undergoing Brugada-type electrocardiography (ECG. However, their effect on echocardiographic features is not known. We address this by assessing global and regional ventricular function using conventional Doppler and two- dimensional (2D speckle tracking techniques. Methods Thirty-one patients with Brugada-type ECG were studied. A pure sodium channel blocker, pilsicainide, was used to provoke an ECG response. The percentage longitudinal systolic myocardial strain at the base of both the right ventricular (RV free wall and the interventricular septum wall was measured using 2D speckle tracking. Left ventricular (LV and RV myocardial performance (TEI indices were also measured. Results The pilsicainide challenge provoked a positive ECG response in 13 patients (inducible group. In the inducible group, longitudinal strain was significantly reduced only at the RV (-27.3 ± 5.4% vs -22.1 ± 3.6%, P P P Conclusions Temporal and spatial analysis using the TEI index and 2D strain imaging revealed the deterioration of global ventricular function associated with conduction disturbance and RV regional function in patients with Brugada-type ECG and coved type ST elevation due to administration of a sodium channel blocker.

  19. Síndrome de Brugada: identificación de un nuevo caso

    Amarilys Valero Hernández


    Full Text Available El síndrome de Brugada es un trastorno eléctrico primario, en ausencia de cardiopatía estructural, asociado a un significativo aumento del riesgo de muerte súbita en individuos jóvenes. A 25 años de su descubrimiento aumentan las controversias, se han descrito más de 300 mutaciones y varios genes involucrados. Se presenta el caso de un hombre de 44 años de edad, sin antecedentes personales o familiares de enfermedad cardiovascular, que manifiesta varios episodios sincopales y que en el electrocardiograma basal muestra un patrón tipo Brugada. Se realizó una prueba de provocación farmacológica que expresó típicamente los criterios para plantear el síndrome arritmogénico. Tras el diagnóstico se le implantó un cardiodesfibrilador automático con lo cual ha tenido una evolución clínica favorable. El síndrome de Brugada se puede diagnosticar a través del electrocardiograma de superficie, lo cual permite prevenir una de las principales causas de muerte súbita cardíaca a través del empleo de un cardiodesfibrilador.

  20. Diabetic Dead-in-Bed Syndrome: A Possible Link to a Cardiac Ion Channelopathy

    Jonathan R. Skinner


    Full Text Available Sudden unexpected nocturnal death among patients with diabetes occurs approximately ten times more commonly than in the general population. Malignant ventricular arrhythmia due to Brugada syndrome has been postulated as a cause, since a glucose-insulin bolus can unmask the Brugada electrocardiographic signature in genetically predisposed individuals. In this report we present a 16-year-old male with insulin-dependent diabetes who died suddenly at night. His diabetes had been well controlled, without significant hypoglycaemia. At autopsy, he had a full stomach and a glucose level of 7 mmol/L in vitreous humor, excluding hypoglycaemia. Genetic analysis of autopsy DNA revealed a missense mutation, c.370A>G (p.Ile124Val, in the GPD1L gene. A parent carried the same mutation and has QT prolongation. Mutations in this gene have been linked to Brugada syndrome and sudden infant death. The patient may have died from a ventricular arrhythmia, secondary to occult Brugada syndrome, triggered by a full stomach and insulin. The data suggest that molecular autopsies are warranted to investigate other cases of the diabetic dead-in-bed syndrome.

  1. School Administrator Assessment of the Personality Traits of General Education Teachers for Suitability to Teach a Student with Asperger's Syndrome

    Bernard, Arthur Ellis


    Most students with Asperger's syndrome are taught in general education classes by teachers who do not have special education training and it is the usually the administrator's responsibility to determine which general education teacher will teach a child with Asperger's syndrome. It is likely that most such decisions rely heavily on the…

  2. UTILIDAD Y RENDIMIENTO DE LOS ALGORITMOS DE BRUGADA Y VERECKEI-2 EN EL DIAGNÓSTICO DE LA TAQUICARDIA VENTRICULAR IDIOPÁTICA / Usefulness and performance of the vereckei-2 and brugada algorithms in the diagnosis of idiopathic ventricular tachycardia

    Gustavo Padrón Peña


    Full Text Available ResumenIntroducción y objetivos: Existen algoritmos como el de Brugada y Vereckei-2 para el diagnóstico de la taquicardia ventricular, pero no han sido explorados en series específicas de pacientes con taquicardia ventricular idiopática. El propósito de esta investigación no fue otro que identificar en nuestra serie, mediante análisis simple, el esquema de mayor rendimiento diagnóstico de los algoritmos de Brugada y Vereckei-2. Método: Estudio retrospectivo y descriptivo en los 15 pacientes que consecutivamente se presentaron con taquicardia ventricular idiopática, confirmada por estudio electrofisiológico y otras pruebas en el Servicio de Electrofisiología Cardíaca del Cardiocentro "Ernesto Che Guevara" de Santa Clara, Cuba, entre enero 2004 – diciembre 2007. Resultados: Ambos algoritmos diagnosticaron el 100 % de los casos. En pacientes con taquicardia ventricular del tracto de salida del ventrículo derecho, el algoritmo de Brugada, diagnostica el 50 % de los casos en el paso 1, y el 83,3 % combinándolo con el paso 3. El algoritmo de Vereckei-2, en los primeros dos pasos no diagnosticó ninguna taquicardia ventricular del tracto de salida del ventrículo derecho. En las taquicardias ventriculares del tracto de salida del ventrículo derecho fasciculares, el algoritmo de Brugada paso 1, solo diagnostica en el 11,1 % de los casos y ninguno en el paso 2. El algoritmo de Vereckei-2, paso 2, obtiene gran rendimiento diagnóstico para las taquicardias ventriculares fasciculares: 88,9 % de casos. Conclusiones: El algoritmo de Vereckei-2 presenta mayor utilidad en la taquicardia ventricular fascicular, al presentar un elevado rendimiento diagnóstico en un solo paso (el 2. El algoritmo de Brugada a pesar de tener menor rendimiento diagnóstico en un solo paso presenta mayor utilidad en el diagnóstico de taquicardia ventricular del tracto de salida del ventrículo derecho, al combinar los pasos 1 y 3. / AbstractIntroduction and

  3. Gastrointestinal (GI) permeability is associated with trait anxiety in children with functional abdominal pain (FAP) and Irritable Bowel Syndrome (IBS)

    FAP and IBS affect 10-15% of school age children and bear many physiological similarities to irritable bowel syndrome (IBS) in adults (e.g., functional pain, visceral hyperalgesia). Animal models of IBS have suggested a relationship between neonatal stress and increased GI permeability later in life...

  4. Association of Obesity Susceptibility Gene Variants with Metabolic Syndrome and Related Traits in 1,443 Czech Adolescents

    Dusatkova, L.; Zamrazilova, H.; Sedlackova, B.; Vcelak, J.; Hlavaty, P.; Hainerova, I.A.; Korenková, Vlasta; Bradnova, O.; Bendlova, B.; Kunesova, M.; Hainer, V.


    Roč. 59, č. 3 (2013), s. 123-133. ISSN 0015-5500 Institutional research plan: CEZ:AV0Z50520701 Keywords : Genome-wide association studies * obesity * metabolic syndrome Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 0.778, year: 2013

  5. Sodium current and potassium transient outward current genes in Brugada syndrome

    Holst, Anders G; Saber, Siamak; Houshmand, Massoud;


    -frequency genetic variants and true monogenetic disease-causing variants. We aimed to screen the genes SCN1B through SCN4B, MOG1, CAV3, and KCND3 for variations in a population of SCN5A negative Danish and Iranian BrS patients, as well as research prior associations using newly released exome data....

  6. Lesson Fifteen Variant Brugada Syndrome%第15课变异型Brugada综合征

    鲁端; 王劲


    @@ 近年来,特发性心室颤动(VF)伴有特征性的心电图表现(右束支传导阻滞和右胸前导联ST段抬高)受到关注,自从1992年Brugada等首次报道后,上述表现已被称之谓Brugada综合征.

  7. [Smith-Lemli-Opitz syndrome: evaluation of the correlations between individual traits as an approach to the study of heterogeneity].

    Nikonovich, Iu B; Kaurov, B A; Lur'e, I V


    A computer analysis was used to study heterogeneity of the Smith-Lemli-Opitz syndrome (SLOS) with or without certain anomalies and to determine intrafamilial phenotypical variability. The analysis of 83 SLOS cases showed significant differences in average values of intragroup similarity, estimated for the cases with cleft palate and without it and those with or without polydactyly. The degree of intragroup similarity in familial cases appeared to be twice as high as in sporadic ones. These data confirm the hypothesis on genetic heterogeneity of SLOS with some allelic forms. PMID:3564150

  8. A structural model of burnout syndrome, coping behavior and personality traits in professional soldiers of the Slovene armed forces: Strukturni model povezanosti med izgorelostjo, strategijami spoprijemanja s stresom in osebnostnimi značilnostmi pri vojakih Slovenske vojske:

    Bajec, Boštjan; Petek, Davorina; Selič, Polona; Serec, Maša; ŠVAB, Igor


    Background: This study explored how adequately the additive and mediational models could explain the relationships between personality traits and coping behavior in predicting burnout syndrome in professional soldiers of the Slovene Army. The additive model suggests that personality and coping are independent, unique contributors to maladjustment outcomes. The mediational model, on the other hand, suggests that personality factors predispose people to use particular coping strategies that ten...

  9. Association of two porcine reproductive and respiratory syndrome virus (PRRSV) receptor genes, CD163 and SN with immune traits.

    Wang, Fengli; Qiu, Haifang; Zhang, Qingde; Peng, Zhongzhen; Liu, Bang


    CD163 and sialoadhesin (SN) were reported as two essential receptors for the porcine reproductive and respiratory syndrome virus. To investigate the relationship between these two genes and porcine immunity, we assigned porcine CD163 and SN respectively to SSC5q21-q24 and SSC17q23 by IMpRH. Expression profiles revealed that CD163 and SN were ubiquitously expressed in ten tissues, and were expressed highly in lymph gland, spleen and liver, which implied the potential functions of CD163 and SN in immunity. Moreover, a single nucleotide polymorphism (SNP) c.3534C>T was found in 3'-UTR of the CD163 gene and association analysis showed that this gene was significantly associated with the IgG content in blood (P G located in exon4 of the SN gene which caused the amino acid transition from histidine to arginine was detected, and it was significantly associated with the WBC count in the peripheral blood (P < 0.05). These results provided fundamental evidence for CD163 and SN as two functional candidate genes affecting immunity in pigs. PMID:21786159

  10. Oral Mucosa Bleeding Times of Normal Cats and Cats with Chediak-Higashi Syndrome or Hageman Trait (Factor XII Deficiency).

    Parker, M T; Collier, L L; Kier, A B; Johnson, G S


    A commercially available, disposable blade in a spring-loaded cassette was used to measure oral mucosa bleeding times (OMBT) of ketamine/acepromazine-anesthetized cats. The OMBT were determined in cats homozygous for Chediak-Higashi syndrome (CHS, n = 7), cats heterozygous for CHS (n = 6), and cats homozygous for Hageman factor (factor XII) deficiency (n = 5). In addition, OMBT were determined in three groups of normal cats: random-source cats (n = 14), inbred normal relatives of the cats with CHS (n = 7), and inbred normal relatives of Hageman factor deficient cats (n = 9). No significant differences were found in the OMBT of the three groups of normal cats. The mean OMBT for all 30 normal cats was 1.9 minutes +/- 0.5 minutes s.d. Compared to the normal cats, those homozygous for CHS had significantly prolonged OMBT (14.1 +/- 3.3 minutes; p cats heterozygous for CHS (2.6 +/- 0.8 minutes) was also significantly longer than the OMBT of the combined normal group. The mean OMBT of the CHS heterozygotes, however, was not significantly longer than that of their normal relatives (OMBT = 1.8 +/- 0.5 minutes), probably because of the low number of cats in this subgroup of normals. As expected, the OMBT of cats homozygous for Hageman factor deficiency (2.3 +/- 0.3 minutes) were not significantly prolonged. PMID:15162339

  11. Serum under-carboxylated osteocalcin levels in women with polycystic ovary syndrome: weight-dependent relationships with endocrine and metabolic traits

    Pepene Carmen E


    Full Text Available Abstract Background Under-carboxylated osteocalcin (ucOC, the precursor substrate of bone biomarker OC is a potent regulator of energy metabolism by promoting insulin production and adiponectin synthesis and decreasing fat stores. The aim of the present study was to point out the potential role of ucOC in the physiopathology of polycystic ovary syndrome (PCOS, a common disorder defined by the constellation of anovulation, insulinresistance, hyperinsulinemia, obesity and androgen excess. Methods In this prospective case–control investigation, 78 young premenopausal women, i.e. 52 PCOS patients and 26 age- and body mass index (BMI-matched healthy controls, were successively enrolled. Recruitment of PCOS patients was performed according to Androgen Excess-Polycystic Ovary Syndrome (AE-PCOS Society 2006 criteria. All study participants were subjected to clinical examination, whole-body composition assessment and measurements of serum ucOC, OC (1-49, glucose and lipids, insulin, total testosterone (TT, estradiol, sex-hormone binding globulin (SHBG, high-sensitivity C-reactive protein (Hs-CRP and β-CrossLaps. Results BMI-stratified multivariate analysis revealed significantly higher ucOC levels in PCOS vs. controls in lean (p = 0.001 but not overweight and obese study participants (p = 0.456. Notably, a positive correlation between ucOC and TT (p = 0.018, calculated free testosterone (cFT, p = 0.028 and serum insulin (p = 0.036, respectively, was found to be confined to the lean analysis subgroup. Furthermore, in stepwise multiple regression models, β-CrossLaps and cFT were able to predict 46.71% of serum ucOC variability. (1-43/49OC failed to be significantly associated to any PCOS trait. Conclusions Circulating ucOC concentration is related to key endocrine PCOS characteristics in a weight-dependent manner. Within the bone-pancreas loop, high ucOC may favor insulin release in lean hyperandrogenic women to compensate for

  12. Genetics Home Reference: cyclic vomiting syndrome

    ... males and females, but fathers do not pass traits associated with changes in mtDNA to their children. ... Syndrome Cyclic Vomiting Syndrome Association International Foundation for Functional Gastrointestinal Disorders: Cyclic Vomiting Syndrome in Adults International ...

  13. Life-history traits of bat species at risk from white-nose syndrome and histopathologic fndings in multiple European bat species [sic.

    Bandouchová, H.; Martínková, Natália; Bartonička, T.; Brichta, J.; Berková, Hana; Dolinay, M.; Kováčová, V.; Kovařík, M.; Ondráček, K.; Řehák, Z.; Zukal, Jan; Pikula, Jiří

    San Jose, 2013. s. 15. [International Bat Research Conference /16./. 11.08.2013-15.08.2013, San Jose] Institutional support: RVO:68081766 Keywords : white-nose syndrome (WNS) * bats * Moravian Karst Subject RIV: GJ - Animal Vermins ; Diseases, Veterinary Medicine

  14. Genetic parameters of ascites-related traits in broilers: correlations with feed efficiency and carcase traits.

    Pakdel, A; van Arendonk, J A M; Vereijken, A L J; Bovenhuis, H


    (1) Pulmonary hypertension syndrome followed by ascites is a metabolic disorder in broilers that occurs more often in fast-growing birds and at cool temperatures. (2) Knowledge of the genetic relationships among ascites-related traits and performance traits like carcase traits or feed efficiency traits is required to design breeding programmes that aim to improve the degree of resistance to ascites syndrome as well as production traits. The objective of this study was to estimate these genetic correlations. (3) Three different experiments were set up to measure ascites-related traits (4202 birds), feed efficiency traits (2166 birds) and carcase traits (2036 birds). The birds in different experiments originated from the same group of parents, which enabled the estimation of genetic correlations among different traits. (4) The genetic correlation of body weight (BW) measured under normal conditions and in the carcase experiment with the ascites indicator trait of right ventricle to total ventricle ratio (RV:TV) measured under cold conditions was 0.30. The estimated genetic correlation indicated that single-trait selecting for BW leads to an increase in occurrence of the ascites syndrome but that there are realistic opportunities of multi-trait selection of birds for improved BW and resistance to ascites. (5) Weak but positive genetic relationships were found between feed efficiency and ascites-related traits suggesting that more efficient birds tend to be slightly more susceptible to ascites. (6) The relatively low genetic correlation between BW measured in the carcase or in the feed efficiency experiments and BW measured in the ascites experiment (0.49) showed considerable genotype by environment interaction. (7) These results indicate that birds with high genetic potential for growth rate under normal temperature conditions have lower growth rate under cold-stress conditions due to ascites. PMID:15835251

  15. Clonal traits

    Klimeš, Leoš; Klimešová, Jitka

    Groningen : LEDA Traitbase project, University of Groningen, Community and Conservation Ecology group, 2005 - (Knevel, I.C., Bekker, R.M., Kunzmann, D., Stadler, M., Thompson, K.), s. 66-88 Institutional research plan: CEZ:AV0Z6005908 Keywords : plant functional traits * clonality * vegetative regeneration Subject RIV: EF - Botanics

  16. Peptide YY (PYY) Gene Polymorphisms in the 3′-Untranslated and Proximal Promoter Regions Regulate Cellular Gene Expression and PYY Secretion and Metabolic Syndrome Traits in Vivo

    Shih, Pei-an Betty; Wang, Lei; Chiron, Stephane; Wen, Gen; Nievergelt, Caroline,; Mahata, Manjula; Khandrika, Srikrishna; Rao, Fangwen; Fung, Maple M.; Mahata, Sushil K.; Hamilton, Bruce A.; O'Connor, Daniel T.


    Rationale: Obesity is a heritable trait that contributes to hypertension and subsequent cardiorenal disease risk; thus, the investigation of genetic variation that predisposes individuals to obesity is an important goal. Circulating peptide YY (PYY) is known for its appetite and energy expenditure-regulating properties; linkage and association studies have suggested that PYY genetic variation contributes to susceptibility for obesity, rendering PYY an attractive candidate for study of disease...

  17. What Are the Signs and Symptoms of Marfan Syndrome?

    ... Twitter. What Are the Signs and Symptoms of Marfan Syndrome? Marfan syndrome can affect many parts of ... many complications, some of which are life threatening. Marfan Traits Marfan syndrome often affects the long bones ...

  18. The CHRNE 470del20 mutation causing congenital myasthenic syndrome in South African Brahman cattle: Prevalence, origin, and association with performance traits.

    Thompson, P.N.; Werf, van der J.H.J.; Heesterbeek, J.A.P.; Arendonk, van J.A.M.


    Genotyping of the South African, registered, Brahman cattle population for the 470del20 mutation in the CHRNE gene causing congenital myasthenic syndrome (CMS) was carried out in 1,453 animals. Overall prevalence of carriers was 0.97% (0.50 to 1.68%, 95% confidence interval). Carrier prevalence amon

  19. The CHRNE 470del20 mutation causing congenital myasthenic syndrome in South African Brahman cattle: Prevalence, origin, and association with performance traits

    Thompson, P.N.; Werf, J.H.J. van der; Heesterbeek, J.A.P.; Arendonk, J.A.M. van


    Genotyping of the South African, registered, Brahman cattle population for the 470del20 mutation in the CHRNE gene causing congenital myasthenic syndrome (CMS) was carried out in 1,453 animals. Overall prevalence of carriers was 0.97% (0.50 to 1.68%, 95% confidence interval). Carrier prevalence amon

  20. Advances of Molecular Biology in Brugada Syndrome%Brugada综合征的分子生物学进展

    王军; 杨钧国


    @@ Brugada综合征是以心电图上表现右束支阻滞、V1至V3导联ST段抬高,QTc正常,多形性室速或室颤发作,临床上反复发作心源性晕厥或猝死,经心脏超声、心室造影和心肌活检等检查无异常发现为特征的临床综合征[1].分子生物学研究发现Brugada综合征的发生与心脏钠通道基因SCN5A突变有关.迄今为止已发现Brugada综合征的相关基因突变位点有10个,都在SCN5A基因上,通过影响钠通道的功能导致Brugada综合征.有的研究指出部分Brugada综合征病人发病与SCN5A突变无关,提示还存在着尚未被发现的Brugada综合征其它的致病基因和SCN5A新的突变位点[2],本文就此作一综述.




    @@ Brugada综合征于1992年由西班牙Brugada两兄弟首先报道[1],又称右束传导阻滞-多形性室速-晕厥综合征或意外夜间猝死综合征.患者心脏无器质性改变,其发病机制不明,是目前国内外报道较少见的心脏病之一.我科于2002年6月收治了1例Brugada综合征患者,现将护理体会报告如下:

  2. J wave syndromes as a cause of sudden arrhythmic death

    Charles Antzelevitch


    Full Text Available Accentuated J waves have been associated with idiopathic ventricular tachycardia and fibrillation (VT/VF for nearly three decades. Prominent J waves characterize both Brugada and early repolarization syndromes leading to their designation as J wave syndromes. An early repolarization (ER pattern, characterized by J point elevation, slurring of the terminal part of the QRS and ST segment elevation was considered to be a totally benign electrocardiographic manifestation until a decade ago. Recent casecontrol and population-based association studies have advanced evidence that an ER pattern in the inferior or infero-lateral leads is associated with increased risk for life-threatening arrhythmias, named early repolarization syndrome (ERS. ERS and Brugada syndrome (BrS share similar electrocardiogram features, clinical outcomes, risk factors as well as a common arrhythmic platform related to amplification of Ito-mediated J waves. Although BrS and ERS differ with respect to the magnitude and lead location of abnormal J wave manifestation, they are thought to represent a continuous spectrum of phenotypic expression, termed J wave syndromes. A classification scheme for ERS has been proposed: type 1, displaying an ER pattern predominantly in the lateral precordial leads, is considered to be largely benign; type 2, displaying an ER pattern predominantly in inferior or infero-lateral leads, is associated with a higher level of risk; whereas type 3, displaying an ER pattern globally in inferior, lateral and right precordial leads, is associated with the highest level of risk for development of malignant arrhythmias and is often associated with VF storms.

  3. Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome)

    Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod


    Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts.

  4. J Wave Syndromes: A Decade of Progress

    Guo-Liang Li; Lin Yang; Chang-Cong Cui; Chao-Feng Sun; Gan-Xin Yan


    Objective:The objective was to provide a brief history of J wave syndromes and to summarize our current understanding of their molecular,ionic,cellular mechanisms,and clinical features.We will also discuss the existing debates and further direction in basic and clinical research for J wave syndromes.Data Sources:The publications on key words of"J wave syndromes","early repolarization syndrome (ERS)","Brugada syndrome (BrS)" and "ST-segment elevation myocardial infarction (STEMI)" were comprehensively reviewed through search of the PubMed literatures without restriction on the publication date.Study Selection:Original articles,reviews and other literatures concerning J wave syndromes,ERS,BrS and STEMI were selected.Results:J wave syndromes were firstly defined by Yan et a Chinese journal a decade ago,which represent a spectrum of variable phenotypes characterized by appearance of prominent electrocardiographic J wave including ERS,BrS and ventricular fibrillation (VF) associated with hypothermia and acute STEMI.J wave syndromes can be inherited or acquired and are mechanistically linked to amplification of the transient outward current (Ito)-mediated J waves that can lead to phase 2 reentry capable of initiating VF.Conclusions:J wave syndromes are a group of newly highlighted clinical entities that share similar molecular,ionic and cellular mechanism and marked by amplified J wave on the electrocardiogram and a risk of VF.The clinical challenge ahead is to identify the patients with J wave syndromes who are at risk for sudden cardiac death and determine the alternative therapeutic strategies to reduce mortality.

  5. J Wave Syndromes: A Decade of Progress

    Guo-Liang Li


    Full Text Available Objective: The objective was to provide a brief history of J wave syndromes and to summarize our current understanding of their molecular, ionic, cellular mechanisms, and clinical features. We will also discuss the existing debates and further direction in basic and clinical research for J wave syndromes. Data Sources: The publications on key words of "J wave syndromes", "early repolarization syndrome (ERS", "Brugada syndrome (BrS" and "ST-segment elevation myocardial infarction (STEMI" were comprehensively reviewed through search of the PubMed literatures without restriction on the publication date. Study Selection: Original articles, reviews and other literatures concerning J wave syndromes, ERS, BrS and STEMI were selected. Results: J wave syndromes were firstly defined by Yan et al. in a Chinese journal a decade ago, which represent a spectrum of variable phenotypes characterized by appearance of prominent electrocardiographic J wave including ERS, BrS and ventricular fibrillation (VF associated with hypothermia and acute STEMI. J wave syndromes can be inherited or acquired and are mechanistically linked to amplification of the transient outward current (I to -mediated J waves that can lead to phase 2 reentry capable of initiating VF. Conclusions: J wave syndromes are a group of newly highlighted clinical entities that share similar molecular, ionic and cellular mechanism and marked by amplified J wave on the electrocardiogram and a risk of VF. The clinical challenge ahead is to identify the patients with J wave syndromes who are at risk for sudden cardiac death and determine the alternative therapeutic strategies to reduce mortality.

  6. Investigation and Analysis of State:Trait Anxiety in Polycystic Ovary Syndrome Patients with Infertility%多囊卵巢综合征不孕症患者状态--特质焦虑调查分析

    华宙佳; 丁彩飞


    Objective] Survey state-trait anxiety situation in polycystic ovary syndrome(PCOS) patients with infertility. [Methods]The State-Trait Anxiety Inventory(STAI) was used to assess psychological health in 172 PCOS patients with infertility and 77 infertile women without PCOS. [Results] ①The de-mographic variables of the three groups were similar to each other, score of state anxiety of the PCOS infertility group(43.29+10.06) was higher than the group of infertile without PCOS(38.00+8.32), the level of the two groups had significant differences. ②The trait anxiety score of the PCOS infertility group( 43.49+8.98) was higher than the group of infertile without PCOS(37.86+12.79) ,it had statistical y significant difference. ③The time of infertility had the biggest influence on the state anxiety of PCOS infertility group, both were positively correlated(t=3.292);and the total score of state anxiety had a negative correlation with age(t=2.760).[Conclusion]PCOS infertility patients have a higher level state anxiety and trait anxiety, its state anxiety level is rele-vant to both the time of infertility and age.%  [目的]调查多囊卵巢综合征(polycystic ovary syndrome, PCOS)不孕患者状态-特质焦虑情况。[方法]采用状态-特质焦虑问卷调查分析172例PCOS不孕患者和77例非PCOS不孕症患者的心理健康状况。[结果]⑴两组调查人群的人口统计学资料基本类同,PCOS不孕组状态焦虑评分(43.29+10.06)分明显高于非PCOS不孕组(38.00±8.32)分,两组焦虑评分比较差异有统计学意义(P<0.05);⑵PCOS不孕组特质焦虑评分(43.49±8.98)分明显高于非PCOS不孕组(37.86±12.79)分,两组差异有统计学意义(P<0.05);⑶PCOS不孕组状态焦虑总分受不孕时间的影响最大,两者呈正相关(t=3.292,P<0.05);与年龄呈负相关(t=2.760,P<0.05)。[结论]PCOS不孕症患者具有较高水平状态焦虑和特质焦虑,其状态

  7. Sickle Cell Trait

    ... About Us Information For... Media Policy Makers Sickle Cell Trait Language: English Español (Spanish) Recommend on Facebook ... the trait on to their children. How Sickle Cell Trait is Inherited If both parents have SCT, ...

  8. Traits in Java


    A trait is a programming language feature which contains a collection of methods that can be reused across class hierarchies. Traits is a relatively new language feature that is beginning to be a part of some of the newest object-oriented programming languages. Traits have been implemented in some languages but it has not become a part of the Java language yet. In this thesis we apply traits to the Java 5 language by designing and implementing a traits aware preprocessor....

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

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


    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, a...

  10. Short QT syndrome

    Fiorenzo Gaita


    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.

  11. Diagnóstico da Síndrome de Brugada: será necessário ver em duplicado? Um critério alternativo

    Santos, Luis; Correia, Emanuel; Faria, Rita; Rodrigues, Bruno; Nunes, Luis; Costa, António; Carvalho, José; Machado, José; Henriques, Carla; De Matos, Ana,; Castedo, Sergio; Santos, Jorge


    Introdução Para o diagnóstico da Síndrome de Brugada (SB) é necessário que o padrão de repolarização do tipo 1 seja identificado em pelo menos 2 das 3 derivações pré cordiais direitas de forma espontânea ou após o teste de provocação com fármacos (TPF). Objectivos e métodos Estudámos 75 elementos de uma família com SB dos quais 30 são portadores (P+) de uma mutação específica do SCN5A. Comparou-se o número de diagnósticos pelos critérios convencionais (CC) no ECG basal e após TPF c...

  12. Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome).

    Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod


    Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts. PMID:25737931

  13. MIDAS syndrome respectively MLS syndrome: A separate entity rather than a particular lyonization pattern of the gene causing Goltz syndrome

    Muecke, J. [Saarland Univ. of Homburg (Germany); Happle, R. [Univ. of Marburg (Germany); Theile, H. [Univ. of Leipzig (Germany)


    Although it is true that MIDAS syndrome, Aicardi syndrome and Goltz syndrome show the same transmission, representing X-linked dominant traits with lethality of hemizygote male embryos, and have a number of anomalies such as defects of the eyes or brain in common, it should be noted that MIDAS syndrome and Goltz syndrome have so far never occurred as alternating phenotypes within the same family. In addition, the observation of MIDAS syndrome in a mother and her daughter lends additional support to the notion that this syndrome represents a distinct entity. 3 refs., 4 figs.

  14. Intraspecific variation in root and leaf traits and leaf-root trait linkages in eight aspen demes (Populus tremula and P. tremuloides)

    Hajek, Peter; Hertel, Dietrich; Leuschner, Christoph


    Leaf and fine root morphology and physiology have been found to vary considerably among tree species, but not much is known about intraspecific variation in root traits and their relatedness to leaf traits. Various aspen progenies (Populus tremula and P. tremuloides) with different growth performance are used in short-rotation forestry. Hence, a better understanding of the link between root trait syndromes and the adaptation of a deme to a particular environment is essential in order to impro...

  15. Dental approach to craniofacial syndromes

    Kjær, Inger


    The paper consists of three parts. Part 1: Definition of Syndromes. Focus is given to craniofacial syndromes in which abnormal traits in the dentition are associated symptoms. In the last decade, research has concentrated on phenotype, genotype, growth, development, function, and treatment. Part 2...... distinction is essential for insight into craniofacial syndromes. The dentition, thus, becomes central in diagnostics and evaluation of the pathogenesis. Developmental fields can explore and advance the concept of dental approaches to craniofacial syndromes. Discussion. As deviations in teeth persist and do...

  16. Beals Syndrome

    ... Boards & Staff Annual Report & Financials Contact Us Donate Marfan & Related Disorders What is Marfan Syndrome? What are ... the syndrome. How does Beals syndrome compare with Marfan syndrome? People with Beals syndrome have many of ...

  17. Predicting microbial traits with phylogenies.

    Goberna, Marta; Verdú, Miguel


    Phylogeny reflects genetic and phenotypic traits in Bacteria and Archaea. The phylogenetic conservatism of microbial traits has prompted the application of phylogeny-based algorithms to predict unknown trait values of extant taxa based on the traits of their evolutionary relatives to estimate, for instance, rRNA gene copy numbers, gene contents or tolerance to abiotic conditions. Unlike the 'macrobial' world, microbial ecologists face scenarios potentially compromising the accuracy of trait reconstruction methods, as, for example, extremely large phylogenies and limited information on the traits of interest. We review 990 bacterial and archaeal traits from the literature and support that phylogenetic trait conservatism is widespread through the tree of life, while revealing that it is generally weak for ecologically relevant phenotypic traits and high for genetically complex traits. We then perform a simulation exercise to assess the accuracy of phylogeny-based trait predictions in common scenarios faced by microbial ecologists. Our simulations show that ca. 60% of the variation in phylogeny-based trait predictions depends on the magnitude of the trait conservatism, the number of species in the tree, the proportion of species with unknown trait values and the mean distance in the tree to the nearest neighbour with a known trait value. Results are similar for both binary and continuous traits. We discuss these results under the light of the reviewed traits and provide recommendations for the use of phylogeny-based trait predictions for microbial ecologists. PMID:26371406

  18. [Traits of personality in hypochondriacal subjects].

    De Vanna, M; Cauzer, M; Spreafichi, A


    Among the several mental originated clinical syndromes, hypochondria is not still well understood and listed. Indeed, hypochondria is often a complicating element in other psychopathological pictures; a slight form of hypochondria can appear in phobic-obsessing neurosis, and a worse one at the beginning of psychosis. The Authors, trying to explain the complex questions about diagnosis and prognosis of hypochondria, look for common personality traits in these patients. The research instrument was the Adjective Check List (ACL), a psychological test highly standardized and diffused, composed of 300 adjectives, or adjectival sentences, used to describe a person's attributes. The ACL was given to 65 subjects divided into two groups. The first group was made of 15 subjects, 10 women and 5 men, ambulatory treated at the Psychiatric Clinic in Trieste for the following diagnosis: psychosis (4 persons), depressing syndrome (3 persons), hypochondria (6 persons), obsessive neurosis (1 persons), anxiety syndrome (1 person). The second group was made of 50 subjects, 28 women and 22 men, diagnosed as hypochondriac by their medical officers. The results point out that some personality traits rising above the others are suggesting for an apathetical patient, not ready to accept himself, easily overcome by everyday life problems. These subjects are introverted, intolerant to frustrations, and inclined to take refuge in their own imaginary world, not able to self-governing. In the considered group the Authors find a moderate tendency to change, and it could be interpreted like a good prognostic element for a psychotherapeutic treatment. PMID:7643735

  19. Beta-thalassaemia trait: haematological parameters

    Thalassaemia syndromes are a group of hereditary disorders characterised by a genetic deficiency in the synthesis of --globin genes. The objective of this study was to determine the haematological features -thalassaemia trait (BTT), and to determine the sensitivity of Mean Corpuscular Volume (MCV), Mean Corpuscular Haemoglobin (MCH) and -thalassaemia trait. Methods: A descriptive study was conducted in Hayatabad Medical Complex, Peshawar from May 2009 to May 2010 with 203 subjects having BTT. Blood samples were collected in EDTA anti-coagulated tubes. RBC indices were taken as part of complete blood count (CBC) by haematology analyser, and Haemoglobin (Hb) electrophoresis was done to determine the HbA2 percentage. The data was collected and analyzed on statistical software for demographic details, RBC indices and HBA2 levels. Results: Out of 203 patients, 92 (45%) were males and 111 (55%) were females. Most patients tested were in the 15-45 year age group. One-hundred-sixty (79%) patients had anaemia. MCV was lower than 76 fl in all the cases. Mean MCV was 59.1 fl. MCH was low, the mean MCH being 19.3 g/dl. MCH <26 gave sensitivity of 99% in detecting BTT. We calculated MI for these cases and found out that it was <12 in 75% of cases and <15 in 197 (97%). Conclusion: Beta-thalassaemia traits present with a microcytic hypochromic blood picture, detected on simple haematology analysers as low MCV and MCH and MI which provide a beta- thalassaemia trait. (author)

  20. The Trait Psychology Controversy.

    Morgan, William P.


    Arguments associated with trait psychology are reviewed with an application in the field of sport psychology. The role of cognition and perception in sport and physical activities is also discussed. (CJ)

  1. From sudden syncope and sudden death of Brugada syndrome%从突发晕厥到猝死-Brugada综合征




  2. A Discussion on the Code of Brugada's Syndrome in ICD-10%Brugada综合征的ICD-10编码探讨



    目的 探讨Brugada综合征的正确ICD-10编码.方法 通过分析了解Brugada综合征病因以及临床特征,找寻Brugada综合征对应的ICD-10疾病编码.结论 对于新生病种要通过多方面查找资料,以确保编码的准确性和唯一性.

  3. Power and Autistic Traits

    Overskeid, Geir


    Autistic traits can help people gain and sustain power, and has probably done so throughout history, says the present paper. A number of testable claims follow from this assumption. First, the powerful should have more autistic traits than others – which they do appear to have. Among other things, powerful people, and those with many autistic traits, tend to prefer solitary activities and are often aloof. Moreover, they are often rigid and socially insensitive, low on empathy and with low scores on the trait of agreeableness – and as a rule they do not have many friends. Both groups are also more self-centered than others, more honest, less submissive, more sensitive to slights, and with a stronger tendency to engage in abstract thinking. They tend to behave in bossy or dominant ways, and their moral judgment is more based on rules than on feelings. In addition to experimental evidence, I cite biographies showing that a surprising number of presidents, prime ministers and other powerful people seem to have had traits like those in question – and interestingly, in animals, leaders are often rigid and insensitive to group members’ needs and feelings, mostly acting the way they are themselves inclined to, not responding much to others. Problem solving is important in leadership, and people with many autistic traits appear often to be better thinkers than typical subjects with similar IQs. However, these and other congruities could be coincidences. Hence the question of whether traits the two groups have in common also have a common cause constitutes a strong test of the paper’s thesis – and a common cause does appear to exist, in the form of testosterone’s effects on the central nervous system. Finally, there is evidence that, other things equal, powerful men have more reproductive success than others. If men wielding power do indeed have more autistic traits than those less powerful, this will lead to, other things equal, such traits becoming more

  4. Antiphospholipid Syndrome

    ... Awards Enhancing Diversity Find People About NINDS NINDS Antiphospholipid Syndrome Information Page Synonym(s): Hughes Syndrome Table of Contents ( ... research is being done? Clinical Trials What is Antiphospholipid Syndrome? Antiphospholipid syndrome (APS) is an autoimmune disorder caused ...

  5. Gastrointestinal (GI) permeability correlates with trait anxiety and urinary norepinephrine/creatinine (CR)ratio in children with functional abdominal pain (FAP)and irritable bowel syndrome (IBS) but not in controls

    FAP and IBS affect 10–15% of school age children and bear many similarities to irritable bowel syndrome (IBS) in adults (e.g., functional pain, visceral hyperalgesia). Animal models of IBS have suggested a relationship between neonatal stress/anxiety and increased GI permeability later in life. We h...

  6. Noonan syndrome

    van der Burgt Ineke


    Full Text Available Abstract Noonan Syndrome (NS is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency and lymphatic dysplasias. The syndrome is transmitted as an autosomal dominant trait. In approximately 50% of cases, the disease is caused by missense mutations in the PTPN11 gene on chromosome 12, resulting in a gain of function of the non-receptor protein tyrosine phosphatase SHP-2 protein. Recently, mutations in the KRAS gene have been identified in a small proportion of patients with NS. A DNA test for mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. NS should be considered in all foetuses with polyhydramnion, pleural effusions, oedema and increased nuchal fluid with a normal karyotype. With special care and counselling, the majority of children with NS will grow up and function normally in the adult world. Management should address feeding problems in early childhood, evaluation of cardiac function and assessment of growth and motor development. Physiotherapy and/or speech therapy should be offered if indicated. A complete eye examination and hearing evaluation should be performed during the first few years of schooling. Preoperative coagulation studies are indicated. Signs and symptoms lessen with age and most adults with NS do not require special medical care.

  7. Regulatory Traits in Cultural Evolution

    Acerbi, Alberto; Ghirlanda, Stefano; Enquist, Magnus


    We call \\regulatory traits" those cultural traits that aretransmitted through cultural interactions and, at the same time, changeindividual behaviors directly inuencing the outcome of future culturalinteractions. The cultural dynamics of some of those traits are studiedthrough simple simulations. In particular, we consider the cultural evolu-tion of traits determining the propensity to copy, the number of potentialdemonstrators from whom one individual may copy, and conformist ver-sus anti{co...

  8. Trait Emotional Intelligence and Personality

    Alexander B Siegling; Furnham, Adrian; Petrides, K V


    This study investigated if the linkages between trait emotional intelligence (trait EI) and the Five-Factor Model of personality were invariant between men and women. Five English-speaking samples (N = 307-685) of mostly undergraduate students each completed a different measure of the Big Five personality traits and either the full form or short form of the Trait Emotional Intelligence Questionnaire (TEIQue). Across samples, models predicting global TEIQue scores from the Big Five were invari...

  9. Joubert Syndrome

    ... Awards Enhancing Diversity Find People About NINDS NINDS Joubert Syndrome Information Page Table of Contents (click to ... Organizations Related NINDS Publications and Information What is Joubert Syndrome? Joubert syndrome is a rare brain malformation ...

  10. Marfan Syndrome

    Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, ... fibrillin. A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, ...

  11. Personality Traits and Administrators

    Anitha V


    Administration is the art of getting tasks done by utilizing the resources and coordinating the people. Administrators give trigger to the administration by coordinating, and directing all parts of an organization by managing the tangible and intangible resources of the organization. The qualities of leadership are therefore a critical determinant of organizational success. The theories of leadership (Trait to Transformational leadership theory) have strived to look into the aspects that make...

  12. Thalassaemia trait and pregnancy.

    White, J. M.; Richards, R; Byrne, M; T. Buchanan; White, Y S; Jelenski, G


    The haematological variables, haematinic state, and placental function of more than 2000 pregnant women, heterozygous for either alpha- or beta-thalassaemia genes, were examined during pregnancy. Four features emerged. Firstly, it was possible by discriminant function analysis of haematological variables to distinguish in pregnant patients between the anaemia caused by thalassaemia trait and that caused by iron deficiency. Secondly, patients with thalassaemia become significantly more anaemic...

  13. Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes

    Tran-Viet, Khanh-Nhat; Soler, Vincent; Quiette, Valencia; POWELL, CALDWELL; Yanovitch, Tammy; Metlapally, Ravikanth; Luo, Xiaoyan; Katsanis, Nicholas; Nading, Erica; Young, Terri L.


    Purpose Stickler syndrome is an arthro-ophthalmopathy with phenotypic overlap with Wagner syndrome. The common Stickler syndrome type I is inherited as an autosomal dominant trait, with causal mutations in collagen type II alpha 1 (COL2A1). Wagner syndrome is associated with mutations in versican (VCAN), which encodes for a chondroitin sulfate proteoglycan. A three-generation Caucasian family variably diagnosed with either syndrome was screened for sequence variants in the COL2A1 and VCAN gen...

  14. Multiple Trait Analysis of Genetic Mapping for Quantitative Trait Loci

    Jiang, C.; Zeng, Z B


    We present in this paper models and statistical methods for performing multiple trait analysis on mapping quantitative trait loci (QTL) based on the composite interval mapping method. By taking into account the correlated structure of multiple traits, this joint analysis has several advantages, compared with separate analyses, for mapping QTL, including the expected improvement on the statistical power of the test for QTL and on the precision of parameter estimation. Also this joint analysis ...

  15. Lobster-claw hand: A manifestation of EEC syndrome

    Cyriac M; Lashpa E


    The combination of ectrodactyly, ectodermal dysplasia, and cleft lip with or without cleft palate (EEC syndrome) is a rare type of congenital anomaly. It usually occurs as an autosomal-dominant trait or less commonly in a sporadic form. In this complex, multiple congenital anomaly syndrome, any of the three cardinal manifestations may present with variable expressions.

  16. Lobster-claw hand: A manifestation of EEC syndrome

    Cyriac M


    Full Text Available The combination of ectrodactyly, ectodermal dysplasia, and cleft lip with or without cleft palate (EEC syndrome is a rare type of congenital anomaly. It usually occurs as an autosomal-dominant trait or less commonly in a sporadic form. In this complex, multiple congenital anomaly syndrome, any of the three cardinal manifestations may present with variable expressions.

  17. Kindler syndrome

    Kaviarasan P


    Full Text Available Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma. The differential diagnosis of Kindler syndrome includes diseases like Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. Our patient had classical cutaneous features of Kindler syndrome with phimosis as a complication.

  18. Personality Traits and Social Inequality

    Guijarro Usobiaga, Jan


    During many decades, sociologists have downplayed the role that personality traits play in shaping individual’s lives. However, recent studies, mostly in economics, have shown the influence of these traits on a several educational and occupational outcomes. This thesis is an attempt to shed more light on this topic. By using longitudinal data from the German Socio-Economic Panel, it first investigates how the Big Five personality traits affect two important labor market outcomes: unemployment...

  19. Unemployment duration and personality traits

    Uysal, Selver; Pohlmeier, Winfried


    This paper focuses on the role personality traits play in determining individual unemployment duration. We argue that a worker's job search intensity is decisively driven by her personality traits, reflected in her propensity to motivate and control herself while searching for a job. Moreover, personality traits, in as far as they can be signaled to a potential employer, may also enhance the probability of receiving and accepting a job offer. For our econometric duration analysis, we use the ...

  20. Social Status and Personality Traits

    Alessandro Bucciol; Barbara Cavasso; Luca Zarri


    In this study we provide direct evidence on the relationship between social status and personality traits. Using survey data from the 2006-2012 waves of the HRS, we show that individuals’ self-perceived social status is associated with all the “Big Five” personality traits, after controlling for observable characteristics that arguably reflect one’s actual status. We also construct an objective status measure that in turn is influenced by personality traits. Objectively measured status is pos...

  1. Noonan syndrome: A case report

    Asokan S; Muthu M; Rathna Prabhu V


    Noonan syndrome is a developmental disorder characterized by facial dysmorphia, short stature, cardiac defects and skeletal malformations. It may be sporadic or inherited as an autosomal dominant or recessive trait and occurs, one in 1000-2500 children. This is a case report of a 13 year-old girl who was referred by a general dental practitioner to a pediatric dentist for management. Full mouth dental rehabilitation was done and the child was brought to a dental institution for correction of ...

  2. Marfan syndrome: current perspectives

    Pepe, Guglielmina; Giusti, Betti; Sticchi, Elena; Abbate, Rosanna; Gensini, Gian Franco; Nistri, Stefano


    Marfan syndrome (MFS) is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, due to mutations in the FBN1 gene encoding fibrillin 1. It is an important protein of the extracellular matrix that contributes to the final structure of a microfibril. Few cases displaying an autosomal recessive transmission are reported in the world. The FBN1 gene, which is made of 66 exons, is located on chromosome 15q21.1. This review, after an introduction on the clinical manifestations that leads to the diagnosis of MFS, focuses on cardiovascular manifestations, pharmacological and surgical therapies of thoracic aortic aneurysm and/or dissection (TAAD), mechanisms underlying the progression of aneurysm or of acute dissection, and biomarkers associated with progression of TAADs. A Dutch group compared treatment with losartan, an angiotensin II receptor-1 blocker, vs no other additional treatment (COMPARE clinical trial). They observed that losartan reduces the aortic dilatation rate in patients with Marfan syndrome. Later on, they also reported that losartan exerts a beneficial effect on patients with Marfan syndrome carrying an FBN1 mutation that causes haploinsufficiency (quantitative mutation), while it has no significant effect on patients displaying dominant negative (qualitative) mutations. Moreover, a French group in a 3-year trial compared the administration of losartan vs placebo in patients with Marfan syndrome under treatment with beta-receptor blockers. They observed that losartan decreases blood pressure but has no effect on aortic diameter progression. Thus, beta-receptor blockers remain the gold standard therapy in patients with Marfan syndrome. Three potential biochemical markers are mentioned in this review: total homocysteine, serum transforming growth factor beta, and lysyl oxidase. Moreover, markers of oxidative stress measured in plasma, previously correlated with clinical features of Marfan syndrome, may be explored as potential

  3. Gorlin Syndrome with Bilateral Polydactyly: A Rare Case Report

    Acharya, Sonu; Panda, Swagatika; Singh Dhull, Kanika; Sahoo, Sujit Ranjan; Ray, Prayas


    ABSTRACT Gorlin's syndrome is a rare disorder transmitted as an autosomal dominant trait. It is characterized by multiple disorders involving multiple systems. We present a case of 11-year-old male child presenting with multiple odontogenic keratocyst to the dental clinic. Retrograde diagnosis of Gorlin-Goltz syndrome was made after clinical and radiological investigation. How to cite this article: Acharya S, Panda S, Dhull KS, Sahoo SR, Ray P. Gorlin Syndrome with Bilateral Polydactyly: A Ra...

  4. Genetics Home Reference: isolated Duane retraction syndrome

    ... as a dominant trait map to the DURS2 genetic locus. Invest Ophthalmol Vis Sci. 2007 Jan;48(1): ... of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31. Hum Genet. ... Reference Site Map Contact Us Selection Criteria ...

  5. Dental Approach to Craniofacial Syndromes: How Can Developmental Fields Show Us a New Way to Understand Pathogenesis?

    Inger Kjær


    The paper consists of three parts. Part 1: Definition of Syndromes. Focus is given to craniofacial syndromes in which abnormal traits in the dentition are associated symptoms. In the last decade, research has concentrated on phenotype, genotype, growth, development, function, and treatment. Part 2: Syndromes before Birth. How can the initial malformation sites in these syndromes be studied and what can we learn from it? In this section, deviations observed in syndromes prenatally will be high...

  6. Mapping Quantitative Trait Loci Controlling Endosperm Traits with Molecular Marker

    XU Chen-wu; LI Tao; SUN Chang-sen; GU Shi-liang


    Based on the genetic models for triploid endosperm traits and on the methods for mapping diploid quantitative traits loci (QTLs), the genetic constitutions, components of means and genetic variances of QTL controlling endosperm traits under flanking marker genotypes of different generations were presented. From these results, a multiple linear regression method for mapping QTL underlying endosperm traits in cereals was proposed, which used the means of endosperm traits under flanking marker genotypes as a dependent variable, the coefficient of additive effect ( d ) and dominance effect ( h 1 and/or h2 ) of a putative QTL in a given interval as independent variables. This method can work at any position in a genome covered by markers and increase the estimation precision of QTL location and their effects by eliminating the interference of other relative QTLs. This method can also be easily used in other uneven data such as markers and quantitative traits detected or measured in plants and tissues different either in generations or at chromosomal ploidy levels, and in endosperm traits controlled by complicated genetic models considering the effects produced by genotypes of both maternal plants and seeds on them.

  7. Quantitative Trait Loci for Fertility Traits in Finnish Ayrshire Cattle

    Schulman, Nina F; Sahana, Goutam; Lund, Mogens S;


    A whole genome scan was carried out to detect quantitative trait loci (QTL) for fertility traits in Finnish Ayrshire cattle. The mapping population consisted of 12 bulls and 493 sons. Estimated breeding values for days open, fertility treatments, maternal calf mortality and paternal non-return rate...... effects were due to a pleiotropic QTL affecting fertility and milk yield traits or to linked QTL causing the effects. This distinction could only be made with confidence on BTA1 where a QTL affecting milk yield is linked to a pleiotropic QTL affecting days open and fertility treatments...

  8. Cushing's Syndrome

    ... Cushing's syndrome, also called hypercortisolism , is a rare endocrine disorder caused by chronic exposure of the body's tissues ... removing the tumor while minimizing the chance of endocrine deficiency or long-term ... for Cushing's Syndrome Clinical Trials ...

  9. Turner Syndrome

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

  10. Metabolic Syndrome

    Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These ... doctors agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is ...

  11. Asperger syndrome

    Asperger syndrome is often considered a high functioning form of autism. It can lead to difficulty interacting socially, repeat behaviors, and clumsiness. Asperger syndrome is a part of the larger developmental disorder ...

  12. Pseudoaminopterin syndrome.

    Kraoua, Lilia; Capri, Yline; Perrin, Laurence; Benmansour, Abdelmajjid; Verloes, Alain


    Pseudoaminopterin syndrome or aminopterin syndrome-like sine aminopterin (ASSA syndrome--OMIM 600325] is a rare autosomal recessive syndrome defined by characteristic dysmorphic features, skeletal defects, limb anomalies, cryptorchidism, and growth retardation. The syndrome owes its name to the fact that patients resemble the children exposed to aminopterin or to methotrexate, two dihydrofolate reductase inhibitors used for chemotherapy, or as an abortificient in early pregnancy. Ten patients have been described with pseudoaminopterin syndrome. Their phenotype is variable, and differs from the phenotype resulting from folic acid deprivation, leading to the notion that the pathogenesis may be more complex than simple vitamin deficiency. We report on an Algerian patient with pseudoaminopterin syndrome, review the previously reported cases and confirm that pseudoaminopterin syndrome does not result from a detectable contiguous gene imbalance as high resolution CGH array was normal in this child. PMID:22811276

  13. Usher Syndrome

    Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder ... hearing and vision. There are three types of Usher syndrome: People with type I are deaf from ...

  14. Turner Syndrome

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of ...

  15. Proteus Syndrome

    ... Gift Stock Gift Sunshine Society Contact Privacy Policy Proteus Syndrome Definition Common Signs Diagnostic Criteria (I have ... NIH to go with this criteria) Glossary Videos Proteus Syndrome is a condition which involves atypical growth ...

  16. Learning about Marfan Syndrome

    ... genetic terms used on this page Learning About Marfan Syndrome What is Marfan syndrome? What are the ... Syndrome Additional Resources for Marfan Syndrome What is Marfan syndrome? Marfan syndrome is one of the most ...

  17. Alagille syndrome.

    Krantz, I D; Piccoli, D A; Spinner, N B


    Alagille syndrome (OMIM 118450) is an autosomal dominant disorder associated with abnormalities of the liver, heart, eye, skeleton, and a characteristic facial appearance. Also referred to as the Alagille-Watson syndrome, syndromic bile duct paucity, and arteriohepatic dysplasia, it is a significant cause of neonatal jaundice and cholestasis in older children. In the fully expressed syndrome, affected subjects have intrahepatic bile duct paucity and cholestasis, in conjunction with cardiac ma...

  18. Cushing Syndrome

    ... links Share this: Page Content What is Cushing’s syndrome? Cushing’s syndrome is a condition that occurs when the body’s ... medication or as a result of a tumor, Cushing’s syndrome can develop. Many factors influence whether this happens, ...

  19. Dumping Syndrome

    ... Disease Organizations​​ (PDF, 341 KB)​​​​​ Alternate Language URL Dumping Syndrome Page Content On this page: What is ... Nutrition Points to Remember Clinical Trials What is dumping syndrome? Dumping syndrome occurs when food, especially sugar, ...

  20. Marfan syndrome: current perspectives

    Pepe G


    Full Text Available Guglielmina Pepe,1,2 Betti Giusti,1,2 Elena Sticchi,1,2 Rosanna Abbate,1,2 Gian Franco Gensini,1–3 Stefano Nistri2,4 1Department of Experimental and Clinical Medicine, Section of Critical Medical Care and Medical Specialities, DENOTHE Center, University of Florence, 2Cardiothoracovascular Department, Marfan Syndrome and Related Disorders Regional Referral Center, Careggi Hospital, 3Santa Maria agli Ulivi, Fondazione Don Carlo Gnocchi, Onlus, Institute for Cancer Research and Treatment, Florence, 4Cardiology Service, CMSR Veneto Medica, Altavilla Vicentina, Italy Abstract: Marfan syndrome (MFS is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, due to mutations in the FBN1 gene encoding fibrillin 1. It is an important protein of the extracellular matrix that contributes to the final structure of a microfibril. Few cases displaying an autosomal recessive transmission are reported in the world. The FBN1 gene, which is made of 66 exons, is located on chromosome 15q21.1. This review, after an introduction on the clinical manifestations that leads to the diagnosis of MFS, focuses on cardiovascular manifestations, pharmacological and surgical therapies of thoracic aortic aneurysm and/or dissection (TAAD, mechanisms underlying the progression of aneurysm or of acute dissection, and biomarkers associated with progression of TAADs. A Dutch group compared treatment with losartan, an angiotensin II receptor-1 blocker, vs no other additional treatment (COMPARE clinical trial. They observed that losartan reduces the aortic dilatation rate in patients with Marfan syndrome. Later on, they also reported that losartan exerts a beneficial effect on patients with Marfan syndrome carrying an FBN1 mutation that causes haploinsufficiency (quantitative mutation, while it has no significant effect on patients displaying dominant negative (qualitative mutations. Moreover, a French group in a 3-year trial compared the administration of

  1. A genetic basis for mechanosensory traits in humans.

    Henning Frenzel

    Full Text Available In all vertebrates hearing and touch represent two distinct sensory systems that both rely on the transformation of mechanical force into electrical signals. There is an extensive literature describing single gene mutations in humans that cause hearing impairment, but there are essentially none for touch. Here we first asked if touch sensitivity is a heritable trait and second whether there are common genes that influence different mechanosensory senses like hearing and touch in humans. Using a classical twin study design we demonstrate that touch sensitivity and touch acuity are highly heritable traits. Quantitative phenotypic measures of different mechanosensory systems revealed significant correlations between touch and hearing acuity in a healthy human population. Thus mutations in genes causing deafness genes could conceivably negatively influence touch sensitivity. In agreement with this hypothesis we found that a proportion of a cohort of congenitally deaf young adults display significantly impaired measures of touch sensitivity compared to controls. In contrast, blind individuals showed enhanced, not diminished touch acuity. Finally, by examining a cohort of patients with Usher syndrome, a genetically well-characterized deaf-blindness syndrome, we could show that recessive pathogenic mutations in the USH2A gene influence touch acuity. Control Usher syndrome cohorts lacking demonstrable pathogenic USH2A mutations showed no impairment in touch acuity. Our study thus provides comprehensive evidence that there are common genetic elements that contribute to touch and hearing and has identified one of these genes as USH2A.

  2. Autism traits in the RASopathies

    Adviento, B; Corbin, IL; Widjaja, F; Desachy, G; Enrique, N.; Rosser, T.; Risi, S; Marco, EJ; Hendren, RL; Bearden, CE; Rauen, KA; Weiss, LA


    Background Mutations in Ras/mitogen-activated protein kinase (Ras/MAPK) pathway genes lead to a class of disorders known as RASopathies, including neurofibromatosis type 1 (NF1), Noonan syndrome (NS), Costello syndrome (CS), and cardio-facio-cutaneous syndrome (CFC). Previous work has suggested potential genetic and phenotypic overlap between dysregulation of Ras/MAPK signalling and autism spectrum disorders (ASD). Although the literature offers conflicting evidence for association of NF1 and...

  3. Pregnancy outcomes amongst thalassemia traits

    Hanprasertpong, Tharangrut; Kor-anantakul, Ounjai; Leetanaporn, Roengsak; Suntharasaj, Thitima; Suwanrath, Chitkasaem; Pruksanusak, Ninlapa; Pranpanus, Savitree


    Objective To compare the pregnancy outcome between pregnancies affected and not affected by thalassemia trait. Methods A retrospective case–control cohort study was conducted on singleton pregnant women who attended antenatal care and delivered at Songklanagarind Hospital. All of the participating thalassemia trait pregnant women were diagnosed based on hemoglobin typing and/or DNA analysis. A ratio of around 1–1 was used to compare their pregnancy outcomes with normal pregnant women. Results...

  4. Personality Trait Change in Adulthood

    Roberts, Brent W.; Mroczek, Daniel


    Recent longitudinal and cross-sectional aging research has shown that personality traits continue to change in adulthood. In this article, we review the evidence for mean-level change in personality traits, as well as for individual differences in change across the life span. In terms of mean-level change, people show increased selfconfidence, warmth, self-control, and emotional stability with age. These changes predominate in young adulthood (age 20–40). Moreover, mean-level change in person...

  5. Nevoid basal cell carcinoma syndrome (Gorlin syndrome

    Lo Muzio Lorenzo


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

  6. Sex and the Syndrome: Individual and Population Consistency in Behaviour in Rock Pool Prawn Palaemon elegans

    Chapman, Ben B.; Hegg, Alexander; Ljungberg, Peter


    Animal personality has been widely documented across a range of species. The concept of personality is composed of individual behavioural consistency across time and between situations, and also behavioural trait correlations known as behavioural syndromes. Whilst many studies have now investigated the stability of individual personality traits, few have analysed the stability over time of entire behavioural syndromes. Here we present data from a behavioural study of rock pool prawns. We show...

  7. Urofacial syndrome

    Kamal F Akl


    Full Text Available The urofacial syndrome is characterized by functional obstructive uropathy asso-ciated with an inverted smile. The importance of the subject is that it sheds light, not only on the muscles of facial expression, but also on the inheritance of voiding disorders and lower urinary tract malformations. We report a 10-year-old-male patient who had the urofacial syndrome. Early diagnosis of the urofacial syndrome is important to avoid upper urinary tract damage and renal failure.

  8. Waardenburg syndrome.

    Read, A P; Newton, V E


    Auditory-pigmentary syndromes are caused by physical absence of melanocytes from the skin, hair, eyes, or the stria vascularis of the cochlea. Dominantly inherited examples with patchy depigmentation are usually labelled Waardenburg syndrome (WS). Type I WS, characterised by dystopia canthorum, is caused by loss of function mutations in the PAX3 gene. Type III WS (Klein-Waardenburg syndrome, with abnormalities of the arms) is an extreme presentation of type I; some but not all patients are ho...

  9. Sweet Syndrome

    Kasapçopur, Özgür; Sever, Lale; Çalışkan, Salim; Kodakoğlu, Ramazan; Mat, Cem; Kaner, Gültekin; Arısoy, Nil


    Sweet syndrome is a vasculitis characterized with fever leucocytosis neutrophilia and dermal neutrophilic infiltration In children Sweet syndrome usually occurs with secondary to infection and in adults to malignancy We report a Sweet syndrome in a five years old girl with respiratory infections otitis dactylitis long lasting fever and cutaneous rash A neutrophilic dermal infiltration is noted in cutaneous biopsy These signs have disappeared with corticosteroid treatment In conclusion Sweet s...

  10. Revesz syndrome

    Dayane Cristine Issaho


    Full Text Available Revesz syndrome is a rare variant of dyskeratosis congenita and is characterized by bilateral exudative retinopathy, alterations in the anterior ocular segment, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, bone marrow failure, cerebral calcification, cerebellar hypoplasia and psychomotor retardation. Few patients with this syndrome have been reported, and significant clinical variations exist among patients. This report describes the first Brazilian case of Revesz syndrome and its ocular and clinical features.

  11. Metabolic syndrome

    Gogia Atul


    Full Text Available The Metabolic syndrome is a widely prevalent and multi-factorial disorder. The syndrome has been given several names, including- the metabolic syndrome, the insulin resistance syndrome, the plurimetabolic syndrome, and the deadly quartet. With the formulation of NCEP/ATP III guidelines, some uniformity and standardization has occurred in the definition of metabolic syndrome and has been very useful for epidemiological purposes. The mechanisms underlying the metabolic syndrome are not fully known; however resistance to insulin stimulated glucose uptake seems to modify biochemical responses in a way that predisposes to metabolic risk factors. The clinical relevance of the metabolic syndrome is related to its role in the development of cardiovascular disease. Management of the metabolic syndrome involves patient-education and intervention at various levels. Weight reduction is one of the main stays of treatment. In this article we comprehensively discuss this syndrome- the epidemiology, pathogenesis, clinical relevance and management. The need to do a comprehensive review of this particular syndrome has arisen in view of the ever increasing incidence of this entitiy. Soon, metabolic syndrome will overtake cigarette smoking as the number one risk factor for heart disease among the US population. Hardly any issue of any primary care medical journal can be opened without encountering an article on type 2 diabetes, dyslipidemia or hypertension. It is rare to see type 2 diabetes, dyslipidemia, obesity or hypertension in isolation. Insulin resistance and resulting hyperinsulinemia have been implicated in the development of glucose intolerance (and progression to type 2 diabetes, hypertriglyceridemia, hypertension, polycystic ovary yndrome, hypercoagulability and vascular inflammation, as well as the eventual development of atherosclerotic cardiovascular disease manifested as myocardial infarction, stroke and myriad end organ diseases. Conversely

  12. Velocardiofacial syndrome.

    Pike, A. C.; Super, M.


    Velocardiofacial syndrome is a syndrome of multiple anomalies that include cleft palate, cardiac defects, learning difficulties, speech disorder and characteristic facial features. It has an estimated incidence of 1 in 5000. The majority of cases have a microdeletion of chromosome 22q11.2. The phenotype of this condition shows considerable variation, not all the principal features are present in each case. Identification of the syndrome can be difficult as many of the anomalies are minor and ...

  13. Williams syndrome

    ... finger Learning disorders Mild to moderate intellectual disability Personality traits including being very friendly, trusting strangers, fearing loud sounds or physical contact, and being interested in music Short, compared to the rest of the person's ...

  14. Sheehan syndrome

    Postpartum hypopituitarism; Postpartum pituitary insufficiency; Hypopituitarism Syndrome ... Malee MP. Pituitary and adrenal disorders in pregnancy. In: Gabbe ... Problem Pregnancies . 6th ed. Philadelphia, PA: Elsevier Mosby; ...

  15. What Is Down Syndrome?

    ... NDSS Home » Down Syndrome » What Is Down Syndrome? What Is Down Syndrome? In every cell in the ... chromosome 21 causes the characteristics of Down syndrome. What Causes Down Syndrome? Regardless of the type of ...

  16. Marfan Syndrome (For Teens)

    ... How Can I Help a Friend Who Cuts? Marfan Syndrome KidsHealth > For Teens > Marfan Syndrome Print A ... a genetic disorder called Marfan syndrome. What Is Marfan Syndrome? Marfan syndrome is named after Antoine Marfan, ...

  17. Down Syndrome: Eye Problems

    ... En Español Read in Chinese What causes Down syndrome? Down syndrome is caused by a duplication of all ... in persons with Down syndrome. How common is Down syndrome? The frequency of Down syndrome is approximately 1 ...

  18. Proteus Syndrome Foundation

    ... Gift Stock Gift Sunshine Society Contact Privacy Policy Proteus Syndrome Foundation The Proteus Syndrome Foundation , a 501c3 ... 1 Trial with ARQ 092 in Proteus Syndrome Proteus Syndrome Patient Registry The Proteus Syndrome Foundation Contact ...

  19. Plant functional traits and diversity in sand dune ecosystems across different biogeographic regions

    Mahdavi, P.; Bergmeier, E.


    Plant species of a functional group respond similarly to environmental pressures and may be expected to act similarly on ecosystem processes and habitat properties. However, feasibility and applicability of functional groups in ecosystems across very different climatic regions have not yet been studied. In our approach we specified the functional groups in sand dune ecosystems of the Mediterranean, Hyrcanian and Irano-Turanian phytogeographic regions. We examined whether functional groups are more influenced by region or rather by habitat characteristics, and identified trait syndromes associated with common habitat types in sand dunes (mobile dunes, stabilized dunes, salt marshes, semi-wet sands, disturbed habitats). A database of 14 traits, 309 species and 314 relevés was examined and trait-species, trait-plot and species-plot matrices were built. Cluster analysis revealed similar plant functional groups in sand dune ecosystems across regions of very different species composition and climate. Specifically, our study showed that plant traits in sand dune ecosystems are grouped reflecting habitat affiliation rather than region and species pool. Environmental factors and constraints such as sand mobility, soil salinity, water availability, nutrient status and disturbance are more important for the occurrence and distribution of plant functional groups than regional belonging. Each habitat is shown to be equipped with specific functional groups and can be described by specific sets of traits. In restoration ecology the completeness of functional groups and traits in a site may serve as a guideline for maintaining or restoring the habitat.

  20. Personal traits, cohabitation, and marriage.

    French, Michael T; Popovici, Ioana; Robins, Philip K; Homer, Jenny F


    This study examines how personal traits affect the likelihood of entering into a cohabitating or marital relationship using a competing risk survival model with cohabitation and marriage as competing outcomes. The data are from Waves 1, 3, and 4 of the National Longitudinal Study of Adolescent Health, a rich dataset with a large sample of young adults (N=9835). A personal traits index is constructed from interviewer-assessed scores on the respondents' physical attractiveness, personality, and grooming. Having a higher score on the personal traits index is associated with a greater hazard of entering into a marital relationship for men and women, but the score does not have a significant influence on entering into a cohabitating relationship. Numerous sensitivity tests support the core findings. PMID:24576635

  1. Turner Syndrome

    Ravinder K. Gupta, Ritu Gupta, Sunil Dutt Sharma


    Full Text Available Turner Syndrome is one of the important chromosomal disorders characterised by loss (total or part ofsex chromosome. The manifestations being peripheral edema, short stature, extra skin fold, webbing ofneck, renal and cardiovascular anomalies, sexual infantilism, learning disability etc. We present here aone month female baby who had classical features of Turner Syndrome. The karyotape analysis wasconsistent with the diagnosis.

  2. Turner Syndrome

    Akcan AB.


    Full Text Available Turner syndrome is an important cause of short stature in girls and primer amenorrhea in young women that is usually caused by loss of part or all of an X chromosome. This topic will review the clinical manifestations, diagnosis and management of Turner syndrome.

  3. Tourette Syndrome.

    Look, Kathy

    Tourette Syndrome has a history of being misdiagnosed or undiagnosed due to its unusual and complex symptoms. This paper describes: the symptoms of Tourette Syndrome; its etiology; age of onset; therapeutic methods, such as drug therapy, psychotherapy, diet control, and hypnosis; educational implications; and employment prospects. Several…

  4. Antiphospholipid syndrome

    Cervera, Ricard; Piette, Jean-Charles; Font, Josep;


    To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression.......To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression....

  5. Proteus syndrome

    George Renu


    Full Text Available A case of proteus syndrome in a 20 year old male is repoted. Hemihypertrophy, asymmetric megalodactyly, linear epidermal naevus, naevus flammeus, angiokeratoma, lymphangioma circumscriptum, thickening of the palms and soles, scoliosis and varicose veins were present. There are only few reports of these cases in adults. The syndrome has not been reported from India.

  6. Burnout Syndrome

    Panova, Gordana; Panov, Nenad; Stojanov, H; Sumanov, Gorgi; Panova, Blagica; Stojanovski, Angel; Nikolovska, Lence; Jovevska, Svetlana; Trajanovski, D; Asanova, D


    Introduction: Increasing work responsibilities, allocation of duties, loss of energy and motivation in everyday activities, emotional exhaustion, lack of time for themselves, insuffi cient time for rest and recreation, dissatisfaction in private life. All these symptoms can be cause of Burnout Syndrome. Aim: To see the importance of this syndrome, the consequences of job dissatisfaction, the environment, family and expression in drastic chan...

  7. Poland syndrome

    Chandra Madhur Sharma


    Full Text Available Poland′s syndrome is a rare congenital condition, characterized by the absence of the sternal or breastbone portion of the pectoralis major muscle, which may be associated with the absence of nearby musculoskeletal structures. We hereby report an 8-year-old boy with typical features of Poland syndrome, the first documented case from Uttar Pradesh, India.

  8. Noonan Syndrome

    Sanjeev K. Digra, Deep Aman Singh, Vikram Gupta, Ghanshyam Saini


    Full Text Available We report a 11 year old boy and his father both Noonan’s. Noonan syndrome occurs in 1 out of 2000live births. Short stature, webbing of neck, pectus carinatum or pectus excavatum, hypertelorismcubitus valgus, epicanthus, downward slanted palpebral fissures, ptosis, microganthia and earabnormalities are the common features of Noonan syndrome.

  9. Bloom's Syndrome

    ... Niemann-Pick Disease, Type A Spinal Muscular Atrophy Tay-Sachs Disease Usher Syndrome, Type 1F and Type III ... Niemann-Pick Disease, Type A Spinal Muscular Atrophy Tay-Sachs Disease Usher Syndrome, Type 1F and Type III ...

  10. Genetics of reproductive traits: Antagonisms with production traits

    Animal breeding and reproductive physiology have been closely related throughout the history of animal production science, because artificial insemination provides the best method of increasing the influence of sires with superior genetics to improve production traits. The addition of genetic techn...

  11. Quantitative trait loci for male reproductive traits in beef cattle.

    Casas, E; Lunstra, D D; Stone, R T


    The objective of the present study was to detect quantitative trait loci (QTL) for male reproductive traits in a half-sib family from a Bos indicus (Brahman) x Bos taurus (Hereford) sire. The sire was mated with MARC III (1/4 Hereford, 1/4 Angus, 1/4 Red Poll and 1/4 Pinzgauer) cows. Testicular traits were measured from 126 male offspring born in 1996 and castrated at 8.5 months. Traits analysed were concentration of follicle stimulating hormone in peripheral blood at castration (FSH), paired testicular weight (PTW) and paired testicular volume (PTV) adjusted for age of dam, calculated age at puberty (AGE), and body weight at castration (BYW). A putative QTL was observed for FSH on chromosome 5. The maximum F-statistic was detected at 70 cM from the beginning of the linkage group. Animals inheriting the Hereford allele had a 2.47-ng/ml higher concentration of FSH than those inheriting the Brahman allele. Evidence also suggests the existence of a putative QTL on chromosome 29 for PTW, PTV, AGE and BYW. The maximum F-statistic was detected at cM 44 from the beginning of the linkage group for PTW, PTV and AGE, and at cM 52 for BYW. Animals that inherited the Brahman allele at this chromosomal region had a 45-g heavier PTW, a 42-cm(3) greater PTV, a 39-day younger AGE and a 22.8-kg heavier BYW, compared with those inheriting the Hereford allele. This is the first report of QTL for male reproductive traits in cattle. PMID:15566467

  12. Antagonistic coevolution between quantitative and Mendelian traits.

    Yamamichi, Masato; Ellner, Stephen P


    Coevolution is relentlessly creating and maintaining biodiversity and therefore has been a central topic in evolutionary biology. Previous theoretical studies have mostly considered coevolution between genetically symmetric traits (i.e. coevolution between two continuous quantitative traits or two discrete Mendelian traits). However, recent empirical evidence indicates that coevolution can occur between genetically asymmetric traits (e.g. between quantitative and Mendelian traits). We examine consequences of antagonistic coevolution mediated by a quantitative predator trait and a Mendelian prey trait, such that predation is more intense with decreased phenotypic distance between their traits (phenotype matching). This antagonistic coevolution produces a complex pattern of bifurcations with bistability (initial state dependence) in a two-dimensional model for trait coevolution. Furthermore, with eco-evolutionary dynamics (so that the trait evolution affects predator-prey population dynamics), we find that coevolution can cause rich dynamics including anti-phase cycles, in-phase cycles, chaotic dynamics and deterministic predator extinction. Predator extinction is more likely to occur when the prey trait exhibits complete dominance rather than semidominance and when the predator trait evolves very rapidly. Our study illustrates how recognizing the genetic architectures of interacting ecological traits can be essential for understanding the population and evolutionary dynamics of coevolving species. PMID:27009218


    Balapanov I. M.


    Full Text Available The article provides a review of biological traits that could be useful for selection of the walnut in diverse conditions of its growth. The most important aspects of species biology are described as they are of primary importance for breeding programs in the countries with walnut crops

  14. Nevoid Basal Cell Carcinoma Syndrome: A Case Report and Review

    Bala Subramanyam, S.; Naga Sujata, D.; Sridhar, K.; Pushpanjali, M


    Nevoid basal cell carcinoma syndrome, a rare autosomal dominant disorder, comprises of a number of abnormalities such as multiple nevoid basal cell carcinomas, skeletal abnormalities and multiple keratocystic odontogenic tumors. Diagnosis may be difficult because of the variability of expressivity and different ages of onset for different traits of this disorder. The dental clinician may be the first to encounter and identify this syndrome, when the multiple cysts like radiolucencies are disc...

  15. Plant traits determine forest flammability

    Zylstra, Philip; Bradstock, Ross


    Carbon and nutrient cycles in forest ecosystems are influenced by their inherent flammability - a property determined by the traits of the component plant species that form the fuel and influence the micro climate of a fire. In the absence of a model capable of explaining the complexity of such a system however, flammability is frequently represented by simple metrics such as surface fuel load. The implications of modelling fire - flammability feedbacks using surface fuel load were examined and compared to a biophysical, mechanistic model (Forest Flammability Model) that incorporates the influence of structural plant traits (e.g. crown shape and spacing) and leaf traits (e.g. thickness, dimensions and moisture). Fuels burn with values of combustibility modelled from leaf traits, transferring convective heat along vectors defined by flame angle and with plume temperatures that decrease with distance from the flame. Flames are re-calculated in one-second time-steps, with new leaves within the plant, neighbouring plants or higher strata ignited when the modelled time to ignition is reached, and other leaves extinguishing when their modelled flame duration is exceeded. The relative influence of surface fuels, vegetation structure and plant leaf traits were examined by comparing flame heights modelled using three treatments that successively added these components within the FFM. Validation was performed across a diverse range of eucalypt forests burnt under widely varying conditions during a forest fire in the Brindabella Ranges west of Canberra (ACT) in 2003. Flame heights ranged from 10 cm to more than 20 m, with an average of 4 m. When modelled from surface fuels alone, flame heights were on average 1.5m smaller than observed values, and were predicted within the error range 28% of the time. The addition of plant structure produced predicted flame heights that were on average 1.5m larger than observed, but were correct 53% of the time. The over-prediction in this

  16. Kounis syndrome.

    Ntuli, P M; Makambwa, E


    Kounis syndrome is characterised by a group of symptoms that manifest as unstable vasospastic or non-vasospastic angina secondary to a hypersensitivity reaction. It was first described by Kounis and Zavras in 1991 as the concurrence of an allergic response with an anaphylactoid or anaphylactic reaction and coronary artery spasm or even myocardial infarction. Since then, this condition has evolved to include a number of mast cell activation disorders associated with acute coronary syndrome. There are many triggering factors, including reactions to multiple medications, exposure to radiological contrast media, poison ivy, bee stings, shellfish and coronary stents. In addition to coronary arterial involvement, Kounis syndrome comprises other arterial systems with similar physiologies, such as mesenteric and cerebral circulation resulting in ischaemia/infarction of the vital organs. The incidence of this condition is difficult to establish owing to the number of potential instigating factors and its relatively infrequent documentation in the literature.We report the case of an HIV-negative 39-year-old man with no coronary risk factors or family history of premature coronary artery disease, who developed Kounis syndrome after the administration of fluoroquinolone for dysuria. However, to the best of our knowledge,no data on the incidence and prevalence of Kounis syndrome in South Africa have ever been reported in the literature. The recent understanding of Kounis syndrome has led to the condition being classified into three syndrome variants. PMID:26636160

  17. Fear Inhibition in High Trait Anxiety

    Merel Kindt; Marieke Soeter


    Trait anxiety is recognized as an individual risk factor for the development of anxiety disorders but the neurobiological mechanisms remain unknown. Here we test whether trait anxiety is associated with impaired fear inhibition utilizing the AX+/BX- conditional discrimination procedure that allows for the independent evaluation of startle fear potentiation and inhibition of fear [1]. Sixty undergraduate students participated in the study - High Trait Anxious: n = 28 and Low Trait Anxious: n =...

  18. Stability of personality traits in adulthood

    Allemand, Mathias; Gruenenfelder-Steiger, Andrea E; Patrick L. Hill


    Stability represents a fundamental concept in developmental theory and research. In this article we give an overview of recent work on personality traits and their stability in adulthood. First, we define personality traits and stability. Second, we present empirical evidence supporting change and stability of personality traits across the adult years with respect to conceptually and statistically different forms of stability. Third, we describe mechanisms and processes that enable trait stab...




    Full Text Available INTRODUCTION: Hydrolethalus Syndrome (HLS is a rare lethal genetic syndrome, recognized as a consequence of a study on Meckle syndrome in Finland .1 HLS is characterized by multiple developmental defects of fetus which include fetal hydrocephalus, agenesis of corpus callosum, absent midline structures of brain, Cleft lip and cleft palate, defective lobulation of lungs, micrognathia and very characteristic abnormality of polydactyly. About 80% of patients have polydactyly, in hands it is postaxial and preaxial in feet with duplicated big toe. A highly characteristic hallux duplex is seen in almost no other situation .2 Club feet is also common.

  20. Neuroacanthocytosis Syndromes

    Walker Ruth H


    Full Text Available Abstract Neuroacanthocytosis (NA syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome which have a Huntington´s disease-like phenotype consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. In addition, cardiomyopathy may occur in McLeod syndrome. Acanthocytes are also found in a proportion of patients with autosomal dominant Huntington's disease-like 2, autosomal recessive pantothenate kinase-associated neurodegeneration and several inherited disorders of lipoprotein metabolism, namely abetalipoproteinemia (Bassen-Kornzweig syndrome and hypobetalipoproteinemia leading to vitamin E malabsorption. The latter disorders are characterized by a peripheral neuropathy and sensory ataxia due to dorsal column degeneration, but movement disorders and cognitive impairment are not present. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known. The association of the acanthocytic membrane abnormality with selective degeneration of the basal ganglia, however, suggests a common pathogenetic pathway. Laboratory tests include blood smears to detect acanthocytosis and determination of serum creatine kinase. Cerebral magnetic resonance imaging may demonstrate striatal atrophy. Kell and Kx blood group antigens are reduced or absent in McLeod syndrome. Western blot for chorein demonstrates absence of this protein in red blood cells of chorea-acanthocytosis patients. Specific genetic testing is possible in all NA syndromes

  1. Traits Programming with AspectJ

    Denier, Simon


    Traits as defined by Schärli, Ducasse et al. allow for the explicit handling of a mean- ingful set of methods. This article presents an attempt to map the trait model from Smalltalk to the Java language. We use AspectJ introduction mechanism to do this. Thus we enlighten purposes of locality and reusability shared by traits and structural AOP.

  2. Which trait dissimilarity for functional diversity: trait means or trait overlap?

    de Bello, Francesco; Carmona, C. P.; Mason, N. W. H.; Sebastia, M.-T.; Lepš, Jan


    Roč. 24, č. 5 (2013), s. 807-819. ISSN 1100-9233 R&D Projects: GA ČR GAP505/12/1296 Institutional support: RVO:67985939 ; RVO:60077344 Keywords : Biodiversity * Environmental filtering * Functional traits Subject RIV: EH - Ecology, Behaviour Impact factor: 3.372, year: 2013

  3. Quantitative trait loci pyramiding for fruit quality traits in tomato

    Sacco, Adriana; Di Matteo, Antonio; Lombardi, Nadia; Trotta, Nikita; Punzo, Biancavaleria; Mari, Angela; Barone, Amalia


    Fruit quality is a major focus for most conventional and innovative tomato breeding strategies, with particular attention being paid to fruit antioxidant compounds. Tomatoes represent a major contribution to dietary nutrition worldwide and a reservoir of diverse antioxidant molecules. In a previous study, we identified two Solanum pennellii introgression lines (IL7-3 and IL12-4) harbouring quantitative trait loci (QTL) that increase the content of ascorbic acid (AsA), phenols and soluble soli...

  4. Piriformis syndrome

    ... Wallet sciatica; Hip socket neuropathy; Pelvic outlet syndrome; Low back pain - piriformis ... medical help immediately if: You have sudden severe pain in your lower back or legs, along with muscle weakness or numbness ...

  5. Rett syndrome

    An infant with Rett syndrome usually has normal development for the first 6 to 18 months. Symptoms range from ... of social engagement Ongoing, severe constipation and gastroesophageal reflux (GERD ) Poor circulation that can lead to cold ...

  6. Gardner Syndrome

    ... syndromes. For more information, talk with an assisted reproduction specialist at a fertility clinic. How common is ... detected X-ray or computed tomography (CT or CAT) scan of the small bowel if adenomas are ...

  7. Piriformis Syndrome

    ... syndrome occurs when this muscle presses on your sciatic nerve (the nerve that goes from your spinal cord ... cause the piriformis muscle to press against the sciatic nerve, such as sitting, walking up stairs or running. ...

  8. Marfan Syndrome

    ... caved-in look. He also wore glasses for myopia (say: my-OH-pee-uh), or nearsightedness, which ... syndrome, this "glue" is weaker than normal. This causes changes in many systems of the body, but ...

  9. Aase syndrome

    ... a provider who has experience treating anemias. A bone marrow transplant may be necessary if other treatment fails. ... counseling is recommended if you have a family history of this syndrome and wish to become pregnant.

  10. Hunter syndrome

    ... to your health care provider for more information. Bone marrow transplant has been tried for the early-onset form, ... to have children and who have a family history of Hunter syndrome. Prenatal testing is available. Carrier ...