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Sample records for brugada syndrome traits

  1. Brugada syndrome

    Directory of Open Access Journals (Sweden)

    Bockeria O.L.

    2015-03-01

    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

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    Rachel Bastiaenen

    2011-12-01

    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

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    Priori Silvia G

    2006-09-01

    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.

    Science.gov (United States)

    Gehshan, Janine Mary; Rizzolo, Denise

    2015-06-01

    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

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    Johnson Francis

    2016-04-01

    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.

  6. Fever-Induced Brugada Syndrome

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    Sandhya Manohar MD

    2015-03-01

    Full Text Available Brugada syndrome is increasingly recognized as a cause of sudden cardiac death. Many of these patients do not get diagnosed due its dynamic and often hidden nature. We have come a long way in understanding the disease process, and its electrophysiology appears to be intimately linked with sodium channel mutations or disorders. The cardiac rhythm in these patients can deteriorate into fatal ventricular arrhythmias. This makes it important for the clinician to be aware of the conditions in which arrhythmogenicity of Brugada syndrome is revealed or even potentiated. We present such an instance where our patient’s Brugada syndrome was unmasked by fever.

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

    DEFF Research Database (Denmark)

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

    2009-01-01

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

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

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    Anders G. Holst

    2009-01-01

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

  9. Ageing and Brugada syndrome: considerations and recommendations

    Institute of Scientific and Technical Information of China (English)

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

    2013-01-01

    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.

  10. New Electrocardiographic Features in Brugada Syndrome

    Science.gov (United States)

    de Luna, Antonio B; García-Niebla, Javier; Baranchuk, Adrian

    2014-01-01

    Brugada syndrome is a genetically determined familial disease with autosomal dominant transmission and variable penetrance, conferring a predisposition to sudden cardiac death due to ventricular arrhythmias. The syndrome is characterized by a typical electrocardiographic pattern in the right precordial leads. This article will focus on the new electrocardiographic features recently agreed on by expert consensus helping to identify this infequent electrocardiographic pattern. PMID:24827804

  11. BRUGADA SYNDROME-A CASE REPORT

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    Kuzevska-Maneva Konstandina

    2016-03-01

    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.

  12. BRUGADA SYNDROME: FROM PRIMARY ELECTRIC HEART DISEASE TO MORPHOLOGICAL SUBSTRATE

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    T. A. Pavlenko

    2016-01-01

    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

    OpenAIRE

    Junttila, J.

    2008-01-01

    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 and Pregnancy: Highlights on Antenatal and Prenatal Management

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    Laura Giambanco

    2014-01-01

    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.

  15. The Brugada syndrome. Outcome of one case

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    Maia Ivan G.

    2000-01-01

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

  16. The genetic component of Brugada syndrome

    DEFF Research Database (Denmark)

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

    2013-01-01

    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.......-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......., 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...

  17. The genetic component of Brugada Syndrome

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    Morten Wagner Nielsen

    2013-07-01

    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.

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

    DEFF Research Database (Denmark)

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

    2009-01-01

    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...

  19. Brugada syndrome risk loci seem protective against atrial fibrillation

    DEFF Research Database (Denmark)

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

    2014-01-01

    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...

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

    DEFF Research Database (Denmark)

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

    2005-01-01

    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...

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

    OpenAIRE

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

    2010-01-01

    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...

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

    OpenAIRE

    Ivan Comelli; Gianfranco Cervellin; Tiziana Meschi; Loris Borghi

    2010-01-01

    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 ...

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

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    Patricia Chavez

    2014-01-01

    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.

  4. 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

    Institute of Scientific and Technical Information of China (English)

    孙振晓; 于相芬

    2015-01-01

    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.

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

    Science.gov (United States)

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

    2016-08-01

    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

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

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    Hisamatsu K

    2004-02-01

    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.

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

    Institute of Scientific and Technical Information of China (English)

    2002-01-01

    @@ 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.

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

    NARCIS (Netherlands)

    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.

    2013-01-01

    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,

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

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    Scherr D

    2003-01-01

    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.

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

    DEFF Research Database (Denmark)

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

    2009-01-01

    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....

  11. Brugada syndrome and its relevance in the perioperative period

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    Dan Sorajja

    2015-01-01

    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.

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

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    Juang Jyh-Ming

    2009-02-01

    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.

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

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    R Soleimanirad

    2013-04-01

    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.

  14. Sodium current and potassium transient outward current genes in brugada syndrome

    DEFF Research Database (Denmark)

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

    2012-01-01

    Brugada syndrome (BrS) is a primary arrhythmia syndrome characterized by the occurrence of malignant ventricular arrhythmias. Previously, the genes SCN1B, SCN3B, MOG1, and KCND3 have been associated with BrS. Recent data from exome screening efforts permit better discrimination between low-freque...

  15. Use of intravenous antiarrhythmics to identify concealed Brugada syndrome

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    Brugada Ramon

    2000-08-01

    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.

  16. C-Reactive Protein Levels in the Brugada Syndrome

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    Aimé Bonny

    2011-01-01

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

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

    OpenAIRE

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

    2014-01-01

    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...

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

    Directory of Open Access Journals (Sweden)

    I. Suliman

    2016-07-01

    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.

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

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    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.

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

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    Ivan Comelli

    2010-09-01

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

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

    NARCIS (Netherlands)

    Rodriguez-Manero, M.; Namdar, M.; Sarkozy, A.; Casado-Arroyo, R.; Ricciardi, D.; Asmundis, C. de; Chierchia, G.B.; Wauters, K.; Rao, J.Y.; Bayrak, F.; Malderen, S. Van; Brugada, P.

    2013-01-01

    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 patien

  2. Monitoring the safety of antiepileptic medication in a child with Brugada syndrome.

    NARCIS (Netherlands)

    Gorp, V. Van; Danschutter, D.; Huyghens, L.; Hachimi-Idrissi, S.; Sarkozy, A.; Chierchia, G.B.; Henkens, S.; Brugada, P.

    2010-01-01

    We report the case of an 8 year old boy presenting with episodes of decreased consciousness. As the boy's father died of a sudden cardiac death (SCD) at the age of 31 years, among other causes a Brugada syndrome (BS) was suspected. The boy was further examined at the UZ Brussels Heart Rhythm Managem

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

    DEFF Research Database (Denmark)

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

    2014-01-01

    Background Brugada syndrome (BrS) is a genetic arrhythmogenic disease characterized by ST-segment elevations in the right precordial leads of the electrocardiogram (ECG). These ECG changes may be concealed and BrS may present with electrical storm characterized by recurrent ventricular tachycardia...

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

    DEFF Research Database (Denmark)

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

    2013-01-01

    More than 300 variants in 12 genes have been associated with Brugada syndrome (BrS) which has a prevalence ranging between 1:2000 and 1:100,000. Until recently, there has been little knowledge regarding the distribution of genetic variations in the general population. This problem was partly solved...

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

    DEFF Research Database (Denmark)

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

    2012-01-01

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

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    Raimundo Carmona Puerta

    2010-06-01

    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.

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

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    Juan Jiménez-Jáimez

    2011-12-01

    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.

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

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    Philippon François

    2005-01-01

    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.

  9. Brugada ECG patterns in athletes.

    Science.gov (United States)

    Chung, Eugene H

    2015-01-01

    Brugada syndrome is responsible for up to 4% of all sudden cardiac deaths worldwide and up to 20% of sudden cardiac deaths in patients with structurally normal hearts. Heterogeneity of repolarization and depolarization, particularly over the right ventricle and the outflow tract, is responsible for the arrhythmogenic substrate. The coved Type I ECG pattern is considered diagnostic of the syndrome but its prevalence is very low. Distinguishing between a saddle back Type 2 Brugada pattern and one of many "Brugada-like" patterns presents challenges especially in athletes. A number of criteria have been proposed to assess Brugada ECG patterns. Proper precordial ECG lead placement is paramount. This paper reviews Brugada syndrome, Brugada ECG patterns, and recently proposed criteria. Recommendations for evaluating a Brugada ECG pattern are provided.

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

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    Jagadeesh K. Kalavakunta

    2010-01-01

    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.

  11. Atypical Cause of Syncope in Patients with Brugada Syndrome

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    Javier Lacunza-Ruiz

    2013-04-01

    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.

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

    DEFF Research Database (Denmark)

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

    2008-01-01

    INTRODUCTION: The Brugada Syndrome (BrS), an inherited syndrome associated with a high incidence of sudden cardiac arrest, has been linked to mutations in four different genes leading to a loss of function in sodium and calcium channel activity. Although the transient outward current (I(to)) is t...... evidence for a functional role of KCNE3 in the modulation of I(to) in the human heart and suggest that mutations in KCNE3 can underlie the development of BrS Udgivelsesdato: 2008...

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

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    María Isabel Ruiz

    2011-09-01

    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.

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

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    Pietro Paolo Martorano

    2013-01-01

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

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

    DEFF Research Database (Denmark)

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

    2008-01-01

    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...

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

    DEFF Research Database (Denmark)

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

    2012-01-01

    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...

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

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    F. Frabetti

    2013-05-01

    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.

  18. Possible bradycardic mode of death and successful pacemaker treatment in a large family with features of long QT syndrome type 3 and Brugada syndrome

    NARCIS (Netherlands)

    Van Den Berg, Maarten P.; Wilde, Arthur A. M.; Viersma, Jan Willem; Brouwer, Jan; Haaksma, Jaap; Van Der Hout, Annemieke H.; Stolte-Dijkstra, Irene; Bezzina, Connie R.; Van Langen, Irene M.; Beaufort-Krol, Gertie C. M.; Hein Cornel, J.A.N.; Crijns, Harry J. G. M.

    2001-01-01

    Introduction: We recently identified a novel mutation of SCN5A (1795insD) in a large family with features of both long QT syndrome type 3 and the Brugada syndrome. The purpose of this study was to detail the clinical features and efficacy of pacemaker therapy in preventing sudden death in this famil

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

    Science.gov (United States)

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

    2015-04-01

    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

  20. SUDDEN CARDIAC ARREST DURING GENERAL ANAESTHESIA IN AN UNDIAGNOSED BRUGADA SYNDROME

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    Jyothsna

    2015-05-01

    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

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

    DEFF Research Database (Denmark)

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

    2008-01-01

    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....

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

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    Maria Banci

    2011-01-01

    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.

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

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    Batchvarov V. N.

    2009-12-01

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

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

    DEFF Research Database (Denmark)

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

    2013-01-01

    Brugada syndrome is a rare cardiac arrhythmia disorder, causally related to SCN5A mutations in around 20% of cases. Through a genome-wide association study of 312 individuals with Brugada syndrome and 1,115 controls, we detected 2 significant association signals at the SCN10A locus (rs10428132) a...... regulates cardiac electrical activity, shows that Brugada syndrome may originate from altered transcriptional programming during cardiac development. Altogether, our findings indicate that common genetic variation can have a strong impact on the predisposition to rare diseases.......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......) and near the HEY2 gene (rs9388451). Independent replication confirmed both signals (meta-analyses: rs10428132, P = 1.0 × 10(-68); rs9388451, P = 5.1 × 10(-17)) and identified one additional signal in SCN5A (at 3p21; rs11708996, P = 1.0 × 10(-14)). The cumulative effect of the three loci on disease...

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

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    Melissa Dakkak

    2015-01-01

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

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

    Science.gov (United States)

    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

    2013-02-01

    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. Mexiletine differentially restores the trafficking defects caused by two brugada syndrome mutations.

    Science.gov (United States)

    Moreau, Adrien; Keller, Dagmar I; Huang, Hai; Fressart, Véronique; Schmied, Christian; Timour, Quadiri; Chahine, Mohamed

    2012-01-01

    The human cardiac sodium channel Na(v)1.5 encoded by the SCN5A gene plays a critical role in cardiac excitability and the propagation of action potentials. Na(v)1.5 dysfunctions due to mutations cause cardiac diseases such as the LQT3 form of long QT syndrome, conduction disorders, and Brugada syndrome (BrS). They have also recently been associated with dilated cardiomyopathy. BrS is characterized by coved ST-segment elevation on surface ECGs and lethal ventricular arrhythmias in an apparently structurally normal heart. Na(v)1.5 mutations that cause BrS result in a loss of channel function. Our aim was to functionally characterize two novel Na(v)1.5 mutations (A124D and V1378M) in BrS patients. Wild-type (WT) and mutant Na(v)1.5 channels were expressed in tsA201 cells in the presence of the β(1)-auxiliary subunit. The patch-clamp technique and immunocytochemistry approaches were used to study the mutant channels and their cellular localization. The two mutant channels displayed a dramatic reduction in current density but had normal gating properties. The reduction in current density was caused by the retention of channel proteins in the endoplasmic reticulum (ER). Mutant channel retention could be partially reversed by incubating transfected cells at 25°C and by treating them with mexiletine (for V1378M but not A124D), or with curcumin or thapsigargin, two drugs that target ER resident proteins. It is likely that the clinical phenotypes observed in these two BrS patients were related to a surface expression defect caused by ER retention. PMID:22529811

  8. Mexiletine Differentially Restores the Trafficking Defects Caused by Two Brugada Syndrome Mutations

    Directory of Open Access Journals (Sweden)

    Adrien eMoreau

    2012-04-01

    Full Text Available The human cardiac sodium channel Nav1.5 encoded by the SCN5A gene plays a critical role in cardiac excitability and the propagation of action potentials. Nav1.5 dysfunctions due to mutations cause cardiac diseases such as the LQT3 form of long QT syndrome, conduction disorders, and Brugada syndrome (BrS. They have also recently been associated with dilated cardiomyopathy. BrS is characterized by coved ST segment elevation on surface ECGs and lethal ventricular arrhythmias in an apparently structurally normal heart. Nav1.5 mutations that cause BrS result in a loss of channel function.Our aim was to functionally characterize two novel Nav1.5 mutations (A124D and V1378M in BrS patients.Wild-type (WT and mutant Nav1.5 channels were expressed in tsA201 cells in the presence of the β1-auxiliary subunit. The patch-clamp technique and immunocytochemistry approaches were used to study the mutant channels and their cellular localization.The two mutant channels displayed a dramatic reduction in current density but had normal gating properties. The reduction in current density was caused by the retention of channel proteins in the endoplasmic reticulum (ER. Mutant channel retention could be partially reversed by incubating transfected cells at 25°C and by treating them with mexiletine (for A124D but not V1378M, or with curcumin or thapsigargin, two drugs that target ER resident proteins.It is likely that the clinical phenotypes observed in these two BrS patients were related to a surface expression defect caused by ER retention.

  9. Brugada phenocopy: A new electrocardiogram phenomenon

    OpenAIRE

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

    2014-01-01

    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....

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

    International Nuclear Information System (INIS)

    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

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

    Directory of Open Access Journals (Sweden)

    Elena Sommariva

    2012-09-01

    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.

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

    DEFF Research Database (Denmark)

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

    2013-01-01

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

    Science.gov (United States)

    Risgaard, Bjarke; Bundgaard, Henning; Jabbari, Reza; Haunsø, Stig; Winkel, Bo Gregers; Tfelt-Hansen, Jacob

    2013-03-26

    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 loss-of-function mutations in SCN5A. In this case-report we present a 75-year old woman referred to our outpatient clinic for inherited cardiac diseases for a familial clinical work-up. Since childhood she had suffered from dizziness, absence seizures, and countless Syncope's. In 2004 sick sinus syndrome was suspected and she was treated with implantation of a pacemaker (PM) at another institution. An inherited cardiac disease was one day suddenly suspected, as the patient had a 61-year old brother who was diagnosed with symptomatic BrS, and treated with an implantable cardioverter defibrillator (ICD) after aborted SCD. A mutation screening revealed a SCN5A [S231CfsX251 (c.692-693delCA)] loss-of-function mutation not previously reported, and as a part of the cascade screening in relatives she was therefore referred to our clinic. In the 7 year period after PM implantation she had experienced no cardiac symptoms, although her electrocardiogram changes now were consistent with a BrS type 1 pattern. A genetic test confirmed that she had the same mutation in SCN5A as her brother. In this case-report we present a loss-of function mutation in SCN5A not previously associated with BrS nor presented in healthy controls. Sinus node dysfunction has previously been documented in patients with symptomatic BrS, which suggests it is not a rare concomitant. The only accepted treatment of BrS is today implantation of an ICD. In the future studies should evaluate if PM in some cases of symptomatic BrS can be used instead of ICDs in patients with a loss-of-function SCN5A mutations.

  14. Mutation in S6 domain of HCN4 channel in patient with suspected Brugada syndrome modifies channel function.

    Science.gov (United States)

    Biel, Stephanie; Aquila, Marco; Hertel, Brigitte; Berthold, Anne; Neumann, Thomas; DiFrancesco, Dario; Moroni, Anna; Thiel, Gerhard; Kauferstein, Silke

    2016-10-01

    Diseases such as the sick sinus and the Brugada syndrome are cardiac abnormalities, which can be caused by a number of genetic aberrances. Among them are mutations in HCN4, a gene, which encodes the hyperpolarization-activated, cyclic nucleotide-gated ion channel 4; this pacemaker channel is responsible for the spontaneous activity of the sinoatrial node. The present genetic screening of patients with suspected or diagnosed Brugada or sick sinus syndrome identified in 1 out of 62 samples the novel mutation V492F. It is located in a highly conserved site of hyperpolarization-activated cyclic nucleotide-gated (HCN)4 channel downstream of the filter at the start of the last transmembrane domain S6. Functional expression of mutant channels in HEK293 cells uncovered a profoundly reduced channel function but no appreciable impact on channel synthesis and trafficking compared to the wild type. The inward rectifying HCN4 current could be partially rescued by an expression of heteromeric channels comprising wt and mutant monomers. These heteromeric channels were responsive to cAMP but they required a more negative voltage for activation and they exhibited a lower current density than the wt channel. This suggests a dominant negative effect of the mutation in patients, which carry this heterozygous mutation. Such a modulation of HCN4 activity could be the cause of the diagnosed cardiac abnormality.

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

    DEFF Research Database (Denmark)

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

    2009-01-01

    revealed brief episodes of very rapid ventricular tachycardia. He was also diagnosed with vasovagal syncope. Genomic DNA was isolated from lymphocytes. All exons and intron borders of 15 ion channel genes were amplified and sequenced. The only mutation uncovered was a missense mutation (T11I) in CACNB2b......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 Br...... significantly faster in mutant channels between 0 and + 20 mV. Action potential voltage clamp experiments showed that total charge was reduced by almost half compared to WT. We report the first BrS mutation in CaCNB2b resulting in accelerated inactivation of L-type calcium channel current. Our results suggest...

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

    Directory of Open Access Journals (Sweden)

    WuQiang Fan

    2015-06-01

    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

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

    OpenAIRE

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

    2008-01-01

    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.

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

    Directory of Open Access Journals (Sweden)

    Yoshiyasu Aizawa

    2016-06-01

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

  19. Brugada electrocardiographic pattern elicited by cyclic antidepressants overdose

    NARCIS (Netherlands)

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

    2006-01-01

    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

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

    DEFF Research Database (Denmark)

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

    2013-01-01

    with loss-of-function mutations in SCN5A. In this case-report we present a 75-year old woman referred to our outpatient clinic for inherited cardiac diseases for a familial clinical work-up. Since childhood she had suffered from dizziness, absence seizures, and countless Syncope's. In 2004 sick sinus...... syndrome was suspected and she was treated with implantation of a pacemaker (PM) at another institution. An inherited cardiac disease was one day suddenly suspected, as the patient had a 61-year old brother who was diagnosed with symptomatic BrS, and treated with an implantable cardioverter defibrillator...

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

    OpenAIRE

    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

    2013-01-01

    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...

  2. Síndrome de Brugada durante el embarazo

    Directory of Open Access Journals (Sweden)

    Eduardo Reyna Villasmil

    2013-09-01

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

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

    DEFF Research Database (Denmark)

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

    2014-01-01

    Brugada Syndrome (BrS) is a rare inherited disease which can give rise to ventricular arrhythmia and ultimately sudden cardiac death. Numerous loss-of-function mutations in the cardiac sodium channel Nav1.5 have been associated with BrS. However, few mutations in the auxiliary Navβ1-4 subunits have...... been linked to this disease. Here we investigated differences in expression and function between Navβ1 and Navβ1b, and whether the H162P/Navβ1b mutation found in a BrS patient is likely to be the underlying cause of disease. The impact of Navβ-subunits were investigated by patch-clamp electrophysiology...... and the obtained in vitro values were used for subsequent in silico modeling. We found that Navβ1b transcripts were expressed at higher levels than Navβ1 transcripts in the human heart. Navβ1b was found to increase the current level when co-expressed with Nav1.5, the Navβ1b/H162P mutated subunit peak current...

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

    Science.gov (United States)

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

    2015-06-01

    Brugada syndrome (BrS) is an autosomal-dominant genetic cardiac disorder caused in 18-30 % of the cases by SCN5A gene mutations and manifested by an atypical right bundle block pattern with ST segment elevation and T wave inversion in the right precordial leads. The syndrome is usually detected after puberty. The identification of BrS in pediatric patients is thus a rare occurrence, and most of the reported cases are unmasked after febrile episodes. Usually, having a family history of sudden death represents the first reason to perform an ECG in febrile children. However, this practice makes the sporadic cases of cardiac disease and specially the asymptomatic ones excluded from this diagnosis. Here, we report a sporadic case of a 2-month-old male patient presented with vaccination-related fever and ventricular tachycardia associated with short breathing, palpitation and cold sweating. ECG changes were consistent with type 1 BrS. SCN5A gene analysis of the proband and his family revealed a set of mutations and polymorphisms differentially distributed among family members, however, without any clear genotype-phenotype correlation. Based on our findings, we think that genetic testing should be pursued as a routine practice in symptomatic and asymptomatic pediatric cases of BrS, with or without family history of sudden cardiac death. Similarly, our study suggests that pediatrician should be encouraged to perform an ECG profiling in suspicious febrile children and quickly manage fever since it is the most important factor unmasking BrS in children. PMID:25758664

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

    Institute of Scientific and Technical Information of China (English)

    潘洁; 姚文亮; 胡康新(综述)

    2015-01-01

    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.

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

    Institute of Scientific and Technical Information of China (English)

    余剑波; 郭继鸿

    2003-01-01

    @@ 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.

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

    OpenAIRE

    Belinda Sandler; Steve Furniss; Eric McWilliams

    2011-01-01

    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...

  8. Brugada-like electrocardiographic patterns induced by hyperkalemia.

    Science.gov (United States)

    Reingardienė, Dagmara; Vilčinskaitė, Jolita; Bilskienė, Diana

    2013-01-01

    Brugada syndrome was described in 1992 as a new clinical and electrocardiographic syndrome involving susceptibility to ventricular arrhythmias and sudden cardiac death in patients with no obvious structural heart disease. Brugada syndrome is characterized by a hereditary anomaly in the sodium ion channel (mutation of the SCN5A gene) identified by a wide QRS associated with the ST-segment elevation and the T‑wave inversion in the right precordial leads. The Brugada-like electrocardiographic pattern can be caused by sodium channel-blocking drugs and electrolyte disorders. Hyperkalemia may produce multiple ECG abnormalities, including the ST-segment elevation and pseudomyocardial infarction with a resolution of these abnormalities after the correction of hyperkalemia. This article describes 8 cases of pseudoanteroseptal myocardial infarction in acute renal insufficiency with hyperkalemia. The ST-segment elevation related to hyperkalemia is resolved by the reduced serum potassium level. Clinicians should recognize that hyperkalemia is one of the etiologies of the Brugada-like electrocardiographic pattern.

  9. 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

    Institute of Scientific and Technical Information of China (English)

    黄少娜

    2015-01-01

    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

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

    DEFF Research Database (Denmark)

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

    2012-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Belinda Sandler

    2011-11-01

    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.

  12. BRUGADA TYPE ECG PATTERN IN A CASE OF ALUMINIUM PHO SPHIDE POISONING

    Directory of Open Access Journals (Sweden)

    Devinder Singh

    2012-12-01

    Full Text Available ABSTRACT: We are presenting a case which reveals unmasking of Brugada pattern with aluminum phosphide (celphos ingestion that could most probably be due to hypomagnesaemia caused by the chemical, though its direct toxic eff ect on cardiac tissue cannot be ruled out. Earlier low levels of magnesium has been shown to pr ecipitate arrhythmias in susceptible individuals and low magnesium levels have been reco rded in survivors of sudden death with underlying Brugada syndrome, this is the first case in which celphos induced hypomagnesaemia has unmasked the Brugada pattern in ECG that can inc rease susceptibility to life threatening arrhythmias. This case opens scope for further resear ch on role of magnesium in celphos poisoning

  13. 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

    Institute of Scientific and Technical Information of China (English)

    田莉; 祝建芳; 杨钧国; 朱元州; 柯琴梅

    2013-01-01

    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).

  14. Functional characterization of a novel frameshift mutation in the C-terminus of the Nav1.5 channel underlying a Brugada syndrome with variable expression in a Spanish family.

    Directory of Open Access Journals (Sweden)

    Pablo Dolz-Gaitón

    Full Text Available INTRODUCTION: We functionally analyzed a frameshift mutation in the SCN5A gene encoding cardiac Na(+ channels (Nav1.5 found in a proband with repeated episodes of ventricular fibrillation who presented bradycardia and paroxysmal atrial fibrillation. Seven relatives also carry the mutation and showed a Brugada syndrome with an incomplete and variable expression. The mutation (p.D1816VfsX7 resulted in a severe truncation (201 residues of the Nav1.5 C-terminus. METHODS AND RESULTS: Wild-type (WT and mutated Nav1.5 channels together with hNavβ1 were expressed in CHO cells and currents were recorded at room temperature using the whole-cell patch-clamp. Expression of p.D1816VfsX7 alone resulted in a marked reduction (≈90% in peak Na(+ current density compared with WT channels. Peak current density generated by p.D1816VfsX7+WT was ≈50% of that generated by WT channels. p.D1816VfsX7 positively shifted activation and inactivation curves, leading to a significant reduction of the window current. The mutation accelerated current activation and reactivation kinetics and increased the fraction of channels developing slow inactivation with prolonged depolarizations. However, late INa was not modified by the mutation. p.D1816VfsX7 produced a marked reduction of channel trafficking toward the membrane that was not restored by decreasing incubation temperature during cell culture or by incubation with 300 μM mexiletine and 5 mM 4-phenylbutirate. CONCLUSION: Despite a severe truncation of the C-terminus, the resulting mutated channels generate currents, albeit with reduced amplitude and altered biophysical properties, confirming the key role of the C-terminal domain in the expression and function of the cardiac Na(+ channel.

  15. A Novel SCN5A Mutation Associated with Drug Induced Brugada Type ECG

    Science.gov (United States)

    Turker, Isik; Makiyama, Takeru; Vatta, Matteo; Itoh, Hideki; Ueyama, Takeshi; Shimizu, Akihiko

    2016-01-01

    Background Class IC antiarrhythmic agents may induce acquired forms of Brugada Syndrome. We have identified a novel mutation in SCN5A, the gene that encodes the α-subunit of the human cardiac sodium channel (hNav1.5), in a patient who exhibited Brugada- type ECG changes during pharmacotherapy of atrial arrhythmias. Objective To assess whether the novel mutation p.V1328M can cause drug induced Brugada Syndrome. Methods Administration of pilsicainide, a class IC antiarrhythmic agent, caused Brugada- type ST elevation in a 66-year-old Japanese male who presented with paroxysmal atrial fibrillation (PAF), type I atrial flutter and inducible ventricular fibrillation (VF) during electrophysiological study. Genetic screening using direct sequencing identified a novel SCN5A variant, p.V1328M. Electrophysiological parameters of WT and p.V1328M and their effects on drug pharmacokinetics were studied using the patch-clamp method. Results Whole-cell sodium current densities were similar for WT and p.V1328M channels. While p.V1328M mutation did not affect the voltage-dependence of the activation kinetics, it caused a positive shift of voltage-dependent steady-state inactivation by 7 mV. The tonic block in the presence of pilsicainide was similar in WT and p.V1328M, when sodium currents were induced by a low frequency pulse protocol (q15s). On the contrary, p.V1328M mutation enhanced pilsicainide induced use-dependent block at 2 Hz. (Ki: WT, 35.8 μM; V1328M, 19.3 μM). Conclusion Our study suggests that a subclinical SCN5A mutation, p.V1328M, might predispose individuals harboring it to drug-induced Brugada Syndrome. PMID:27560382

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

    Science.gov (United States)

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

    2016-07-28

    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.

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

    Science.gov (United States)

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

    2016-07-28

    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

  18. 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

    Institute of Scientific and Technical Information of China (English)

    丁玉琴

    2008-01-01

    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。

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

    DEFF Research Database (Denmark)

    Svendsen, Jesper Hastrup; Geelen, Peter

    2010-01-01

    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...

  20. Identification of major quantitative trait loci underlying floral pollination syndrome divergence in Penstemon.

    Science.gov (United States)

    Wessinger, Carolyn A; Hileman, Lena C; Rausher, Mark D

    2014-08-01

    Distinct floral pollination syndromes have emerged multiple times during the diversification of flowering plants. For example, in western North America, a hummingbird pollination syndrome has evolved more than 100 times, generally from within insect-pollinated lineages. The hummingbird syndrome is characterized by a suite of floral traits that attracts and facilitates pollen movement by hummingbirds, while at the same time discourages bee visitation. These floral traits generally include large nectar volume, red flower colour, elongated and narrow corolla tubes and reproductive organs that are exerted from the corolla. A handful of studies have examined the genetic architecture of hummingbird pollination syndrome evolution. These studies find that mutations of relatively large effect often explain increased nectar volume and transition to red flower colour. In addition, they suggest that adaptive suites of floral traits may often exhibit a high degree of genetic linkage, which could facilitate their fixation during pollination syndrome evolution. Here, we explore these emerging generalities by investigating the genetic basis of floral pollination syndrome divergence between two related Penstemon species with different pollination syndromes--bee-pollinated P. neomexicanus and closely related hummingbird-pollinated P. barbatus. In an F2 mapping population derived from a cross between these two species, we characterized the effect size of genetic loci underlying floral trait divergence associated with the transition to bird pollination, as well as correlation structure of floral trait variation. We find the effect sizes of quantitative trait loci for adaptive floral traits are in line with patterns observed in previous studies, and find strong evidence that suites of floral traits are genetically linked. This linkage may be due to genetic proximity or pleiotropic effects of single causative loci. Interestingly, our data suggest that the evolution of floral traits

  1. 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

    Institute of Scientific and Technical Information of China (English)

    严霞; 孔伟; 曹华

    2010-01-01

    @@ 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.

  2. EKG-Beispiel: Brugada-Syndrom

    Directory of Open Access Journals (Sweden)

    Rauscha F

    2005-01-01

    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.

  3. Brugada Syndrome%Brugada綜合徵

    Institute of Scientific and Technical Information of China (English)

    鍾桃娟; 金椿; 鄧錫偉

    2004-01-01

    Brugada綜合徵是一種心臟疾患少見病,是東南亞地區年輕男性心臟疾患死亡的原因之一.其確切病因及發病機制目前尚未完全清楚,治療和預防Brugada綜合徵的主要方法是植入埋藏式自動心臟復律除顱器(ICD).臨床醫生應進一步加強對Brugada綜合徵的認識,當Brugada綜合徵圖形發生在"正常"男性青壯年患者時,應加強隨訪觀察.

  4. EP Testing in Asymptomatic Brugada Patients with Recurrent Palpitations. Just do it!

    Directory of Open Access Journals (Sweden)

    Filippo Maria Cauti

    2016-09-01

    Full Text Available Brugada syndrome is a rare heritable arrhythmogenic disease characterized by a coved ST segment elevation in the right precordial leads and by an increased risk of sudden cardiac arrest as a result of polymorphic ventricular tachyarrhythmias or ventricular fibrillation (1. Although implantable cardioverter defibrillators are considered to be the main therapy in patients with a history of ventricular arrhythmias or syncope, risk stratification in cases without these symptoms remains controversial. Patients with confirmed Brugada pattern and a history of palpitations without major events should be scheduled for risk stratification. Even though its value has been questioned, inducibility of VTs/VF at programmed electric stimulation is widely used to select candidates to receive a prophylactic implantable cardiac defibrillator in these categories. Herein, we report a patient with type I Electrocardiogram (ECG pattern induced at the Ajmaline test and a family history of sudden cardiac death who had episodes of palpitations. We describe and discuss our management proving the importance of complete electrophysiological testing in the setting of Brugada asymptomatic patients’ risk stratification.

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

    NARCIS (Netherlands)

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

    2008-01-01

    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

  6. Brugada 综合征1例

    Institute of Scientific and Technical Information of China (English)

    孙春荣

    2003-01-01

    @@ 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.

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Science.gov (United States)

    Bókony, Veronika; Kulcsár, Anna; Tóth, Zoltán; Liker, András

    2012-01-01

    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.

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

    Institute of Scientific and Technical Information of China (English)

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

    2015-01-01

    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。

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

    DEFF Research Database (Denmark)

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

    2011-01-01

    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....

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

    Directory of Open Access Journals (Sweden)

    Omar Mousa

    2013-11-01

    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.

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

    Science.gov (United States)

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

    2015-01-01

    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.

  13. Heritability and Genetic Correlations Explained by Common SNPs for Metabolic Syndrome Traits

    Science.gov (United States)

    Vattikuti, Shashaank; Guo, Juen; Chow, Carson C.

    2012-01-01

    We used a bivariate (multivariate) linear mixed-effects model to estimate the narrow-sense heritability (h2) and heritability explained by the common SNPs (hg2) for several metabolic syndrome (MetS) traits and the genetic correlation between pairs of traits for the Atherosclerosis Risk in Communities (ARIC) genome-wide association study (GWAS) population. MetS traits included body-mass index (BMI), waist-to-hip ratio (WHR), systolic blood pressure (SBP), fasting glucose (GLU), fasting insulin (INS), fasting trigylcerides (TG), and fasting high-density lipoprotein (HDL). We found the percentage of h2 accounted for by common SNPs to be 58% of h2 for height, 41% for BMI, 46% for WHR, 30% for GLU, 39% for INS, 34% for TG, 25% for HDL, and 80% for SBP. We confirmed prior reports for height and BMI using the ARIC population and independently in the Framingham Heart Study (FHS) population. We demonstrated that the multivariate model supported large genetic correlations between BMI and WHR and between TG and HDL. We also showed that the genetic correlations between the MetS traits are directly proportional to the phenotypic correlations. PMID:22479213

  14. Heritability and genetic correlations explained by common SNPs for metabolic syndrome traits.

    Directory of Open Access Journals (Sweden)

    Shashaank Vattikuti

    Full Text Available We used a bivariate (multivariate linear mixed-effects model to estimate the narrow-sense heritability (h(2 and heritability explained by the common SNPs (h(g(2 for several metabolic syndrome (MetS traits and the genetic correlation between pairs of traits for the Atherosclerosis Risk in Communities (ARIC genome-wide association study (GWAS population. MetS traits included body-mass index (BMI, waist-to-hip ratio (WHR, systolic blood pressure (SBP, fasting glucose (GLU, fasting insulin (INS, fasting trigylcerides (TG, and fasting high-density lipoprotein (HDL. We found the percentage of h(2 accounted for by common SNPs to be 58% of h(2 for height, 41% for BMI, 46% for WHR, 30% for GLU, 39% for INS, 34% for TG, 25% for HDL, and 80% for SBP. We confirmed prior reports for height and BMI using the ARIC population and independently in the Framingham Heart Study (FHS population. We demonstrated that the multivariate model supported large genetic correlations between BMI and WHR and between TG and HDL. We also showed that the genetic correlations between the MetS traits are directly proportional to the phenotypic correlations.

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

    Science.gov (United States)

    Wuerz, Yvonne; Krüger, Oliver

    2015-01-01

    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

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

    Institute of Scientific and Technical Information of China (English)

    俞建华

    2014-01-01

    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

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

    Directory of Open Access Journals (Sweden)

    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.

  18. Brugada syndrome unmasked by accidental inhalation of gasoline vapors

    DEFF Research Database (Denmark)

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

    2007-01-01

    vapors. His electrocardiogram (ECG) showed a typical type-1 BrS pattern that persisted after the acute event. Genetic investigations allowed the identification of a novel SCN5A mutation leading to a frame-shift and early termination of the channel protein. Biochemical and cellular electrophysiology...

  19. Brugada 综合征的药物和非药物治疗

    Institute of Scientific and Technical Information of China (English)

    松尾清隆

    2003-01-01

    @@ 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.

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

    Directory of Open Access Journals (Sweden)

    Shwetal Goraksha

    2010-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Hugo Alberto Abrego

    2006-05-01

    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

  2. Autism traits in children and adolescents with Cornelia de Lange syndrome.

    Science.gov (United States)

    Srivastava, Siddharth; Landy-Schmitt, Colleen; Clark, Bennett; Kline, Antonie D; Specht, Matt; Grados, Marco A

    2014-06-01

    Cornelia de Lange syndrome (CdLS) is a cohesinopathy causing delayed growth and limb deficits. Individuals with CdLS have mild to profound intellectual disability and autistic features. This study characterizes the behavioral phenotype of children with CdLS, focusing on autistic features, maladaptive behaviors, and impact of age. Children with CdLS (5-18 years) were administered normed instruments to characterize autism features (Childhood Autism Rating Scale, CARS), maladaptive behaviors (Aberrant Behavior Checklist), and adaptive skills (Vineland Adaptive Behaviors Scales). CdLS features and severity were rated with Diagnostic Criteria for CdLS. Forty-one children with CdLS (23 females, 18 males) were classified as having "no autism" (n = 7; 17.1%), "mild autism" (n = 17; 41.4%), and "severe autism" (n = 17; 41.4%), using CARS scores. Characteristic items were abnormal emotional response, stereotypies, odd object use, rigidity, lack of verbal communication, and low intellectual functioning. Verbal communication deficits and repetitive behaviors were higher compared to sensory, social cognition, and behavior abnormalities (P ≤ 0.0001). Maladaptive behaviors associated with autism traits were stereotypies (P = 0.003), hyperactivity (P = 0.01), and lethargy (P = 0.03). Activities of daily living were significantly affected; socialization adaptive skills were a relative strength. However, with advancing age, both socialization (P socialization adaptive skills are less affected. Advancing age can worsen communication and socialization deficits relative to neurotypical peers.

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

    DEFF Research Database (Denmark)

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

    2010-01-01

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

  4. The Evolutionary Logic of the Obsessive Trait Complex: Obsessive Compulsive Personality Disorder as a Complementary Behavioral Syndrome

    Directory of Open Access Journals (Sweden)

    Steven Charles Hertler

    2015-04-01

    Full Text Available Freud noted that the obsessive traits of orderliness, parsimony, and obstinacy incontestably belonged together. This observation has been unfailingly justified, but unsatisfactorily explained. Being a highly heritable pattern essentially unaffected by parental influence, it is counterfactual to continue to explain the obsessive trait constellation as a pathological signature of harsh, authoritarian parenting. Alternatively, the present paper, building upon a previously promulgated evolutionary etiological model, describes how obsessive traits work in unison to enable survival within harsh northerly climates. What appears to be a loosely federated inventory of pathology, after the application of evolutionary reasoning, becomes a coherent behavioral package, adaptive suite, or behavioral syndrome. All three of these terms, taken from behavioral biology, suggest that traits strategically covary, such that the adaptive value of each trait is enhanced by the presence of the others. In this vein, the union of anxious tension and conscientiousness drives the obsessive personality to labor incessantly. The fruits of obsessive labor are then conserved through parsimoniousness, hoarding, vigilance, and niggardliness. And so, obsessive personality is a coherent behavioral package in that the drive to work towards the acquisition of necessities is paired with the drive to conserve and defend them.

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

    NARCIS (Netherlands)

    A.A.M. Wilde; Y.M. Pinto

    2009-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Ouali S

    2011-04-01

    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

  7. 伪差性 Brugada 波3例

    Institute of Scientific and Technical Information of China (English)

    陈静; 丁颖; 龚辉; 徐泽芹

    2013-01-01

    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。

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

    OpenAIRE

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

    2009-01-01

    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...

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

    Science.gov (United States)

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

    2016-01-01

    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.

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

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    Murata Kazuya

    2011-11-01

    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.

  11. Síndrome de Brugada: identificación de un nuevo caso

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    Amarilys Valero Hernández

    2016-03-01

    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.

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

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    Jonathan R. Skinner

    2014-01-01

    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.

  13. 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

    Directory of Open Access Journals (Sweden)

    Gustavo Padrón Peña

    2012-07-01

    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

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

    Science.gov (United States)

    Bernard, Arthur Ellis

    2011-01-01

    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…

  15. A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men.

    Directory of Open Access Journals (Sweden)

    Melanie Lacaria

    Full Text Available The functional contribution of CNV to human biology and disease pathophysiology has undergone limited exploration. Recent observations in humans indicate a tentative link between CNV and weight regulation. Smith-Magenis syndrome (SMS, manifesting obesity and hypercholesterolemia, results from a deletion CNV at 17p11.2, but is sometimes due to haploinsufficiency of a single gene, RAI1. The reciprocal duplication in 17p11.2 causes Potocki-Lupski syndrome (PTLS. We previously constructed mouse strains with a deletion, Df(1117, or duplication, Dp(1117, of the mouse genomic interval syntenic to the SMS/PTLS region. We demonstrate that Dp(1117 is obesity-opposing; it conveys a highly penetrant, strain-independent phenotype of reduced weight, leaner body composition, lower TC/LDL, and increased insulin sensitivity that is not due to alteration in food intake or activity level. When fed with a high-fat diet, Dp(1117/+ mice display much less weight gain and metabolic change than WT mice, demonstrating that the Dp(1117 CNV protects against metabolic syndrome. Reciprocally, Df(1117/+ mice with the deletion CNV have increased weight, higher fat content, decreased HDL, and reduced insulin sensitivity, manifesting a bona fide metabolic syndrome. These observations in the deficiency animal model are supported by human data from 76 SMS subjects. Further, studies on knockout/transgenic mice showed that the metabolic consequences of Dp(1117 and Df(1117 CNVs are not only due to dosage alterations of Rai1, the predominant dosage-sensitive gene for SMS and likely also PTLS. Our experiments in chromosome-engineered mouse CNV models for human genomic disorders demonstrate that a CNV can be causative for weight/metabolic phenotypes. Furthermore, we explored the biology underlying the contribution of CNV to the physiology of weight control and energy metabolism. The high penetrance, strain independence, and resistance to dietary influences associated with the CNVs in

  16. Flutter Atrial Fetal en Madre Portadora de Síndrome de Brugada: Caso Clínico

    Directory of Open Access Journals (Sweden)

    Gustavo Kiekebusch Hurel

    2011-01-01

    Full Text Available Se presenta el caso de mujer portadora de Síndrome de Brugada que cursa embarazo de 35 semanas, en cuyo control ecográfico prenatal se observa flutter atrial fetal. Se realizó interrupción del embarazo vía cesárea de urgencia, obteniéndose recién nacido de pretérmino sexo masculino, vivo, con taquiarritmia persistente, la cual requirió manejo con Adenosina. Este caso representa un gran desafío en cuanto a la asociación entre la patología materna y la fetal, además de su utilidad como orientación en el manejo de otros casos similares. Palabras Clave: Síndrome de Brugada, flutter atrial fetal, recién nacido de pretérmino, embarazo.

  17. Sudden cardiac arrest as a presentation of Brugada syndrome unmasked by thyroid storm

    NARCIS (Netherlands)

    Korte, Anna K M; Derde, Lennie; van Wijk, Jeroen; Tjan, David H

    2015-01-01

    An 18-year-old man suffered a sudden cardiac arrest with ventricular fibrillation and was successfully resuscitated. He had neither a medical nor family history of cardiac disease/sudden death, but was known to have Graves' disease, for which he was treated with radioactive iodine. Recently, block-a

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

    Institute of Scientific and Technical Information of China (English)

    鲁端; 王劲

    2005-01-01

    @@ 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.

  19. Massive splenic infarction and splenic venous thrombosis observed in a patient with acute splenic syndrome of sickle cell traits on contrast-enhanced thin-slice computed tomography.

    Science.gov (United States)

    Hayashi, Takana Yamakawa; Matsuda, Izuru; Hagiwara, Kazuchika; Takayanagi, Tomoko; Hagiwara, Akifumi

    2016-09-01

    We report a case of splenic infarction in a patient with sickle cell traits (SCT), focusing on the computed tomography (CT) findings. The patient was an African-American man in his twenties with no past medical history who experienced sudden left upper quadrant pain while climbing a mountain (over 3000 m above sea level). Dynamic contrast-enhanced CT revealed massive non-segmental splenic infarction accompanied with nodule-like preserved splenic tissue. The region of splenic infarction did not coincide with the arterial vascular territory and differed from the features of infarction caused by large arterial embolism. In addition, thrombotic occlusion of the distal splenic vein was depicted on plain and contrast-enhanced thin-slice CT images. Early-phase contrast-enhanced images also showed inhomogeneous enhancement of the hepatic parenchyma. The patient's symptoms improved with conservative therapy. A hemoglobin electrophoresis test confirmed the diagnosis of SCT. SCT is usually asymptomatic, but hypoxic environments may induce acute splenic syndrome, which is commonly manifested as splenic infarction. We observed splenic venous thrombosis and inhomogeneous hepatic parenchymal enhancement in addition to a huge splenic infarction in our patient. To the best of our knowledge, this is the first report describing the specific imaging findings, particularly splenic venous thrombosis and inhomogeneous hepatic parenchymal enhancement, of acute splenic syndrome in a patient with previously undiagnosed SCT. These findings demonstrate the pathophysiology of SCT, and may help with the diagnosis of this disease.

  20. Self-reported health and cortisol awakening response in parents of people with asperger syndrome: the role of trait anger and anxiety, coping and burden.

    Science.gov (United States)

    Ruiz-Robledillo, N; Moya-Albiol, L

    2013-11-01

    Caring for offspring with autism spectrum disorders entails high levels of stress for a long period of time and is associated with several types of health complaints. Few studies have focused on specific effects of particular disorders in the spectrum. This study was carried out with the aim of evaluating the global health of parents of people with Asperger syndrome (N = 53) compared to those of typically developing children (N = 54) through self-reported measures (medication consumption and somatic symptoms) and biological markers (cortisol awakening response [CAR]). Additionally, we analysed various psychological variables as potential predictors of caregiver health. We found that caregivers take more medication and have worse self-reported health than controls, but there were no significant differences in CAR between the groups. However, after controlling for negative affect, differences between groups in CAR reached significance. With regards to predictor variables, anxiety trait, cognitive-coping style, burden and anger temperament were significantly associated with caregiver's self-reported health. These findings underline the need to develop interventions that foster improvements in the health of caregivers, reduce their burden and enhance their quality of life.

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

    Science.gov (United States)

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

    2012-04-01

    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

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

    Science.gov (United States)

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

    1988-01-01

    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

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

    Directory of Open Access Journals (Sweden)

    Pepene Carmen E

    2013-01-01

    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

  4. Genetic association study with metabolic syndrome and metabolic-related traits in a cross-sectional sample and a 10-year longitudinal sample of chinese elderly population.

    Directory of Open Access Journals (Sweden)

    Jinghui Yang

    Full Text Available BACKGROUND: The metabolic syndrome (MetS has been known as partly heritable, while the number of genetic studies on MetS and metabolic-related traits among Chinese elderly was limited. METHODS: A cross-sectional analysis was performed among 2 014 aged participants from September 2009 to June 2010 in Beijing, China. An additional longitudinal study was carried out among the same study population from 2001 to 2010. Biochemical profile and anthropometric parameters of all the participants were measured. The associations of 23 SNPs located within 17 candidate genes (MTHFR, PPARγ, LPL, INSIG, TCF7L2, FTO, KCNJ11, JAZF1, CDKN2A/B, ADIPOQ, WFS1, CDKAL1, IGF2BP2, KCNQ1, MTNR1B, IRS1, ACE with overweight and obesity, diabetes, metabolic phenotypes, and MetS were examined in both studies. RESULTS: In this Chinese elderly population, prevalence of overweight, central obesity, diabetes, dyslipidemia, hypertension, and MetS were 48.3%, 71.0%, 32.4%, 75.7%, 68.3% and 54.5%, respectively. In the cross-sectional analyses, no SNP was found to be associated with MetS. Genotype TT of SNP rs4402960 within the gene IGF2BP2 was associated with overweight (odds ratio (OR  = 0.479, 95% confidence interval (CI: 0.316-0.724, p = 0.001 and genotype CA of SNP rs1801131 within the gene MTHFR was associated with hypertension (OR = 1.560, 95% CI: 1.194-2.240, p = 0.001. However, these associations were not observed in the longitudinal analyses. CONCLUSIONS: The associations of SNP rs4402960 with overweight as well as the association of SNP rs1801131 with hypertension were found to be statistically significant. No SNP was identified to be associated with MetS in our study with statistical significance.

  5. Effects of an energy-restricted diet rich in plant-derived α-linolenic acid on systemic inflammation and endothelial function in overweight-to-obese patients with metabolic syndrome traits.

    Science.gov (United States)

    Egert, Sarah; Baxheinrich, Andrea; Lee-Barkey, Young Hee; Tschoepe, Diethelm; Wahrburg, Ursel; Stratmann, Bernd

    2014-10-28

    Plant-derived α-linolenic acid (ALA) may reduce the risk of CVD, possibly by decreasing systemic inflammation and improving endothelial function. In the present study, the effects of a hypoenergetic diet rich in ALA (3·4 g/d) on the biomarkers of systemic inflammation and vascular function were investigated in eighty-one overweight-to-obese patients with metabolic syndrome traits in comparison with a hypoenergetic diet low in ALA (0·9 g/d, control). After a 6-month dietary intervention, there were significant decreases in the serum concentrations of C-reactive protein (CRP), TNF-α, IL-6, soluble intercellular adhesion molecule-1 (sICAM-1), soluble endothelial selectin (sE-selectin) and asymmetric dimethylarginine in both dietary groups. However, no inter-group differences were observed for all these changes. The serum concentration of YKL-40 (human cartilage glycoprotein 39 or chitinase-3-like protein 1) decreased after the ALA diet when compared with the control diet (Pmetabolic syndrome traits, both vascular function and inflammation are improved during body-weight loss. The high ALA intake led to a more pronounced reduction in the serum concentration of YKL-40 compared with the intake of the low-ALA control diet, indicating the existence of independent favourable physiological effects of ALA during weight loss.

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

    Institute of Scientific and Technical Information of China (English)

    王军; 杨钧国

    2003-01-01

    @@ 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.

  7. Brugada综合征1例的护理%NURSING OF ONE CASE OF BRUGADA SYNDROME

    Institute of Scientific and Technical Information of China (English)

    徐小文

    2003-01-01

    @@ 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:

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

    Directory of Open Access Journals (Sweden)

    Charles Antzelevitch

    2013-06-01

    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.

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

    NARCIS (Netherlands)

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

    2007-01-01

    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

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

    NARCIS (Netherlands)

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

    2007-01-01

    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

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

    Science.gov (United States)

    ... 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 ...

  12. J Wave Syndromes: A Decade of Progress

    Directory of Open Access Journals (Sweden)

    Guo-Liang Li

    2015-01-01

    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.

  13. J Wave Syndromes: A Decade of Progress

    Institute of Scientific and Technical Information of China (English)

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

    2015-01-01

    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 (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.

  14. Large-scale studies of the Leu72Met polymorphism of the ghrelin gene in relation to the metabolic syndrome and associated quantitative traits

    DEFF Research Database (Denmark)

    Bing, C; Ambye, L; Fenger, M;

    2005-01-01

    Recently, low-frequency polymorphisms in the coding region of the ghrelin gene were suggested to be involved in the aetiology of obesity and to modulate glucose-induced insulin secretion in different ethnic study groups. The objective of the present large study was to investigate whether the Leu72......Met polymorphism of the ghrelin gene associates with features of the metabolic syndrome (MS) in the Danish population....

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

    OpenAIRE

    Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

    2014-01-01

    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.

  16. 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

    Institute of Scientific and Technical Information of China (English)

    华宙佳; 丁彩飞

    2013-01-01

    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

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

    Institute of Scientific and Technical Information of China (English)

    华宙佳; 丁彩飞

    2013-01-01

      [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,其状态焦虑程度与不孕时间和年龄具有相关性。%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

  18. Prevalence of type 1 brugada electrocardiographic pattern evaluated by twelve-lead twenty-four-hour holter monitoring.

    Science.gov (United States)

    Cerrato, Natascia; Giustetto, Carla; Gribaudo, Elena; Richiardi, Elena; Barbonaglia, Lorella; Scrocco, Chiara; Zema, Domenica; Gaita, Fiorenzo

    2015-01-01

    Patients with drug-induced type 1 Brugada electrocardiograms (BrECGs) are considered to have good prognosis. Spontaneous type 1 is, instead, considered a risk factor; however, it is probably underestimated because of the BrECG fluctuations. The aim of this study was to analyze, in a large population of patients with Br, the real prevalence of type 1 BrECG using 12-lead 24-hour Holter monitoring (12L-Holter) and its correlation with the time of the day. We recorded 303 12L-Holter in 251 patients. Seventy-five (30%) patients exhibited spontaneous type 1 BrECG at 12-lead ECG (group 1) and 176 (70%) had only drug-induced type 1 (group 2). Type 1 BrECG was defined as "persistent" (>85% of the recording), "intermittent" (Holter, 57% intermittent type 1%, and 31% never had type 1; in group 2, none had persistent type 1, 20% had intermittent type 1%, and 80% never showed type 1. To evaluate the circadian fluctuations of BrECG, 4 periods in the day were considered. Type 1 BrECG was more frequent between 12-noon and 6 p.m. (52%, p Holter than with conventional follow-up with periodic ECGs and this has important implications in the risk stratification. 12L-Holter recording might avoid 20% of the pharmacological challenges with sodium channel blockers, which are not without risks, and should thus be considered as the first screening test, particularly in children or in presence of borderline diagnostic basal ECG.

  19. Sickle Cell Trait

    Science.gov (United States)

    ... 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, ...

  20. Predicting species' maximum dispersal distances from simple plant traits.

    Science.gov (United States)

    Tamme, Riin; Götzenberger, Lars; Zobel, Martin; Bullock, James M; Hooftman, Danny A P; Kaasik, Ants; Pärtel, Meelis

    2014-02-01

    Many studies have shown plant species' dispersal distances to be strongly related to life-history traits, but how well different traits can predict dispersal distances is not yet known. We used cross-validation techniques and a global data set (576 plant species) to measure the predictive power of simple plant traits to estimate species' maximum dispersal distances. Including dispersal syndrome (wind, animal, ant, ballistic, and no special syndrome), growth form (tree, shrub, herb), seed mass, seed release height, and terminal velocity in different combinations as explanatory variables we constructed models to explain variation in measured maximum dispersal distances and evaluated their power to predict maximum dispersal distances. Predictions are more accurate, but also limited to a particular set of species, if data on more specific traits, such as terminal velocity, are available. The best model (R2 = 0.60) included dispersal syndrome, growth form, and terminal velocity as fixed effects. Reasonable predictions of maximum dispersal distance (R2 = 0.53) are also possible when using only the simplest and most commonly measured traits; dispersal syndrome and growth form together with species taxonomy data. We provide a function (dispeRsal) to be run in the software package R. This enables researchers to estimate maximum dispersal distances with confidence intervals for plant species using measured traits as predictors. Easily obtainable trait data, such as dispersal syndrome (inferred from seed morphology) and growth form, enable predictions to be made for a large number of species.

  1. Evolved developmental homeostasis disturbed in LB1 from Flores, Indonesia, denotes Down syndrome and not diagnostic traits of the invalid species Homo floresiensis

    Science.gov (United States)

    Henneberg, Maciej; Eckhardt, Robert B.; Chavanaves, Sakdapong; Hsü, Kenneth J.

    2014-08-01

    Human skeletons from Liang Bua Cave, Flores, Indonesia, are coeval with only Homo sapiens populations worldwide and no other previously known hominins. We report here for the first time to our knowledge the occipitofrontal circumference of specimen LB1. This datum makes it possible to link the 430-mL endocranial volume of LB1 reported by us previously, later confirmed independently by other investigators, not only with other human skeletal samples past and present but also with a large body of clinical data routinely collected on patients with developmental disorders. Our analyses show that the brain size of LB1 is in the range predicted for an individual with Down syndrome (DS) in a normal small-bodied population from the geographic region that includes Flores. Among additional diagnostic signs of DS and other skeletal dysplasiae are abnormally short femora combined with disproportionate flat feet. Liang Bua Cave femora, known only for LB1, match interlimb proportions for DS. Predictions based on corrected LB1 femur lengths show a stature normal for other H. sapiens populations in the region.

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

    DEFF Research Database (Denmark)

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

    2014-01-01

    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...

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

    OpenAIRE

    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

    2010-01-01

    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...

  4. Traits in Java

    OpenAIRE

    2007-01-01

    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....

  5. Short QT syndrome

    Directory of Open Access Journals (Sweden)

    Fiorenzo Gaita

    2011-12-01

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

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

    Science.gov (United States)

    Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

    2014-01-01

    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

  7. Traits traded off

    NARCIS (Netherlands)

    Rueffler, Claus

    2006-01-01

    The course of evolution is restricted by constraints. A special type of constraint is a trade-off where different traits are negatively correlated. In this situation a mutant type that shows an improvement in one trait suffers from a decreased performance through another trait. In a fixed fitness la

  8. FishTraits Database

    Science.gov (United States)

    Angermeier, Paul L.; Frimpong, Emmanuel A.

    2009-01-01

    The need for integrated and widely accessible sources of species traits data to facilitate studies of ecology, conservation, and management has motivated development of traits databases for various taxa. In spite of the increasing number of traits-based analyses of freshwater fishes in the United States, no consolidated database of traits of this group exists publicly, and much useful information on these species is documented only in obscure sources. The largely inaccessible and unconsolidated traits information makes large-scale analysis involving many fishes and/or traits particularly challenging. FishTraits is a database of >100 traits for 809 (731 native and 78 exotic) fish species found in freshwaters of the conterminous United States, including 37 native families and 145 native genera. The database contains information on four major categories of traits: (1) trophic ecology, (2) body size and reproductive ecology (life history), (3) habitat associations, and (4) salinity and temperature tolerances. Information on geographic distribution and conservation status is also included. Together, we refer to the traits, distribution, and conservation status information as attributes. Descriptions of attributes are available here. Many sources were consulted to compile attributes, including state and regional species accounts and other databases.

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

    OpenAIRE

    Hajek, Peter; Hertel, Dietrich; Leuschner, Christoph

    2013-01-01

    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...

  10. Nevoid basal cell carcinoma syndrome

    Directory of Open Access Journals (Sweden)

    Kannan Karthiga

    2006-01-01

    Full Text Available Binkley and Johnson first reported this syndrome in 1951. But it was in 1960, Gorlin-Goltz established the association of basal cell epithelioma, jaw cyst and bifid ribs, a combination which is now frequently known as Gorlin-Goltz syndrome as well as Nevoid Basal Cell Carcinoma Syndrome (NBCCS. NBCCS is inherited as an autosomal dominant trait with high penetrance and variable expressivity. NBCCS is characterized by variety of cutaneous, dental, osseous, opthalmic, neurologic and sexual abnormalities. One such case of Gorlin-Goltz syndrome is reported here with good illustrations.

  11. Beals Syndrome

    Science.gov (United States)

    ... 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 ...

  12. Power and Autistic Traits.

    Science.gov (United States)

    Overskeid, Geir

    2016-01-01

    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 common - which can

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

    Institute of Scientific and Technical Information of China (English)

    龚镇

    2013-01-01

    目的:探讨Brugada综合征及其鉴别诊断.方法:分析1998年以来Brugada综合征文献报道病例的临床特征、诊断、处理、预后及鉴别诊断.结论:重视Brugada波及其综合征的鉴别诊断,对积极防治Brugada综合征突发晕厥与猝死起到非常重要的作用.

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

    Institute of Scientific and Technical Information of China (English)

    刘红云

    2008-01-01

    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.

  15. [Traits of personality in hypochondriacal subjects].

    Science.gov (United States)

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

    1995-06-01

    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.

  16. [Traits of personality in hypochondriacal subjects].

    Science.gov (United States)

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

    1995-06-01

    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

  17. Auriculotemporal Syndrome (Frey Syndrome).

    Science.gov (United States)

    Motz, Kevin M; Kim, Young J

    2016-04-01

    Frey syndrome is a common sequela of parotidectomy, and although it is not frequently manifested clinically, it can cause significant morbidity for those affected. Frey syndrome results from synkinetic autonomic reinnervation by transected postganglionic parasympathetic nerve fiber within the parotid gland to the overlying sweat glands of the skin. Many surgical techniques have been proposed to prevent the development of Frey syndrome. For those who develop clinical symptoms of Frey syndrome, objective testing can be performed with a Minor starch-iodine test. Some of the current methods to prevent and treat symptomatic Frey syndrome are reviewed. PMID:26902982

  18. Beta-thalassaemia trait: haematological parameters

    International Nuclear Information System (INIS)

    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)

  19. Power and Autistic Traits

    Science.gov (United States)

    Overskeid, Geir

    2016-01-01

    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

  20. Metabolic syndrome and polycystic ovary syndrome: an intriguing overlapping.

    Science.gov (United States)

    Caserta, Donatella; Adducchio, Gloria; Picchia, Simona; Ralli, Eleonora; Matteucci, Eleonora; Moscarini, Massimo

    2014-06-01

    Metabolic syndrome is an increasing pathology in adults and in children, due to a parallel rise of obesity. Sedentary lifestyle, food habits, cultural influences and also a genetic predisposition can cause dyslipidemia, hypertension, abdominal obesity and insulin resistance which are the two main features of metabolic syndrome. Polycystic ovary syndrome (PCOS) is a condition directly associated with obesity, insulin resistance (HOMA index) and metabolic syndrome, and it is very interesting for its relationship and overlap with the metabolic syndrome. The relationship between the two syndromes is mutual: PCOS women have a higher prevalence of metabolic syndrome and also women with metabolic syndrome commonly present the reproductive/endocrine trait of PCOS. Prevention and treatment of metabolic syndrome and PCOS are similar for various aspects. It is necessary to treat excess adiposity and insulin resistance, with the overall goals of preventing cardiovascular disease and type 2 diabetes and improving reproductive failure in young women with PCOS. First of all, lifestyle changes, then pharmacological therapy, bariatric surgery and laparoscopic ovarian surgery represent the pillars for PCOS treatment.

  1. Noonan syndrome

    Directory of Open Access Journals (Sweden)

    van der Burgt Ineke

    2007-01-01

    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.

  2. Bi Syndrome (Arthralgia Syndrome)

    Institute of Scientific and Technical Information of China (English)

    ZHANG En-qin

    2010-01-01

    @@ The word 'Bi' (痹) in Chinese means an obstruction.Bi Syndrome refers the syndrome characterized by the obstruction of qi and blood in the meridians due to the invasion of external pathogenic wind, cold and dampness, manifested as soreness, pain, numbness,heavy sensation, swelling of joints and limbs, limitation of movements and so on.

  3. The Self-Rating Scale of Illness Conception and Health Seeking Behavior (ICHSB) Traits in Patients with Irritable Bowel Syndrome(IBS)%肠易激综合征患者的疾病观念与求医行为特征调查

    Institute of Scientific and Technical Information of China (English)

    刘小彦; 王嫱; 王敏; 李培凯; 苏萍; 杨建中

    2012-01-01

    目的 调查肠易激综合征患者疾病观念与求医行为特征对发病的影响.方法 2010年4月至2011年4月对云南省第二人民医院消化科门诊的126名肠易激综合征患者和126名健康人群进行"疾病观念与求医行为问卷"调查.结果 肠易激综合征患者存在一定的疾病观念与求医行为障碍:男性倾向于采取积极的求医行为(F=4.463,P=0.037);患者腹部症状与因子Ⅱ成年时期对疾病与健康的观念、态度上呈正相关(R=0.178,P<0.05).结论 肠易激综合征患者在求医行为方面采取积极求医的态度,可能对发病有一定的影响.%Objective To investigate the self-rating scale of illness conception and health seeking behavior traits in patients with Irritable Bowel Syndrome. Methods 126 patients with Irritable Bowel Syndrome were assessed by self-rating scale of illness conception and health seeking behavior at outpatient service of Gastroenterology Department in the Second People's Hospital of Yunnan Province during the year of 2010-2011. Results The patients with irritable bowel syndrome had certain disorders in health seeking behavior and the male patients were more serious than women in health seeking behavior. The symptoms of IBS patients were positively correlated to the severity in ICHSB (R =0.178; P <0.05). Conclusion The patients with irritable bowel syndrome have positive health seeking behavior , the social psychological factors have certain effect on the disease.

  4. Trait Emotional Intelligence and Personality

    OpenAIRE

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

    2015-01-01

    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...

  5. Marfan Syndrome

    Science.gov (United States)

    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, ...

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

    OpenAIRE

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

    2013-01-01

    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...

  7. Personality Traits and Administrators

    OpenAIRE

    Anitha V

    2008-01-01

    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...

  8. Thalassaemia trait and pregnancy.

    OpenAIRE

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

    1985-01-01

    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...

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

    OpenAIRE

    Jiang, C.; Zeng, Z B

    1995-01-01

    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 ...

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

    OpenAIRE

    Cyriac M; Lashpa E

    2006-01-01

    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.

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

    Directory of Open Access Journals (Sweden)

    Cyriac M

    2006-01-01

    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.

  12. Marfan syndrome: current perspectives

    Science.gov (United States)

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

    2016-01-01

    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

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

    OpenAIRE

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

    2013-01-01

    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...

  14. Turner Syndrome

    Science.gov (United States)

    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 ...

  15. Cushing's Syndrome

    Science.gov (United States)

    Cushing's syndrome is a hormonal disorder. The cause is long-term exposure to too much cortisol, a hormone ... cause your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are Upper body obesity ...

  16. Cushing's Syndrome

    Science.gov (United States)

    ... 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 ...

  17. Turner Syndrome

    Science.gov (United States)

    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 ...

  18. Genetics Home Reference: isolated Duane retraction syndrome

    Science.gov (United States)

    ... 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 ...

  19. National Down Syndrome Society

    Science.gov (United States)

    ... info@ndss.org Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ... More » Follow us Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ...

  20. Learning about Marfan Syndrome

    Science.gov (United States)

    ... 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 ...

  1. Quantitative trait loci underlying udder morphology traits in dairy sheep.

    Science.gov (United States)

    Gutiérrez-Gil, B; El-Zarei, M F; Alvarez, L; Bayón, Y; de la Fuente, L F; San Primitivo, F; Arranz, J J

    2008-09-01

    A genome scan was conducted on the basis of the daughter design to detect quantitative trait loci (QTL) influencing udder morphology traits in Spanish Churra dairy sheep. A total of 739 ewes belonging to 11 half-sib families were genotyped for 182 microsatellite markers covering 3,248.2 cM (Kosambi) of the ovine autosomal genome. Phenotypic traits included scores for 5 linear udder traits: udder depth, udder attachment, teat placement, teat size, and udder shape. Quantitative measurements for the QTL analysis were calculated for each trait from evaluation scores using within-family yield deviations corrected for fixed environmental effects. Joint analysis of all families using Haley-Knott regression identified 5 regions that exceeded the 5% chromosome-wise significance threshold on chromosomes 7, 14, 15, 20, and 26. Based on the across-family results, a within-family analysis was carried out to identify families segregated according to the QTL and to estimate the QTL effect. The allelic substitution effect for individual families ranged from 0.47 to 1.7 phenotypic standard deviation units for udder shape on chromosome 15 and udder depth on chromosome 14, respectively. These QTL regions provide a starting point for further research aimed at the characterization of genetic variability involved in udder traits in Churra sheep. This paper presents the first report of a sheep genome scan for udder-related traits in a dairy sheep outbred population.

  2. Quantitative trait loci underlying milk production traits in sheep.

    Science.gov (United States)

    Gutiérrez-Gil, B; El-Zarei, M F; Alvarez, L; Bayón, Y; de la Fuente, L F; San Primitivo, F; Arranz, J-J

    2009-08-01

    Improvement of milk production traits in dairy sheep is required to increase the competitiveness of the industry and to maintain the production of high quality cheese in regions of Mediterranean countries with less favourable conditions. Additional improvement over classical selection could be reached if genes with significant effects on the relevant traits were specifically targeted by selection. However, so far, few studies have been undertaken to detect quantitative trait loci (QTL) in dairy sheep. In this study, we present a complete genome scan performed in a commercial population of Spanish Churra sheep to identify chromosomal regions associated with phenotypic variation observed in milk production traits. Eleven half-sib families, including a total of 1213 ewes, were analysed following a daughter design. Genome-wise multi-marker regression analysis revealed a genome-wise significant QTL for milk protein percentage on chromosome 3. Eight other regions, localized on chromosomes 1, 2, 20, 23 and 25, showed suggestive significant linkage associations with some of the analysed traits. To our knowledge, this study represents the first complete genome scan for milk production traits reported in dairy sheep. The experiment described here shows that analysis of commercial dairy sheep populations has the potential to increase our understanding of the genetic determinants of complex production-related traits.

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

    Institute of Scientific and Technical Information of China (English)

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

    2002-01-01

    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.

  4. Dumping Syndrome

    Science.gov (United States)

    ... 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, ...

  5. Quantitative Trait Loci in Inbred Lines

    NARCIS (Netherlands)

    Jansen, R.C.

    2001-01-01

    Quantitative traits result from the influence of multiple genes (quantitative trait loci) and environmental factors. Detecting and mapping the individual genes underlying such 'complex' traits is a difficult task. Fortunately, populations obtained from crosses between inbred lines are relatively ide

  6. Marfan syndrome: current perspectives

    Directory of Open Access Journals (Sweden)

    Pepe G

    2016-05-01

    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

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

    DEFF Research Database (Denmark)

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

    2008-01-01

    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...... combinations, which were observed significant in the regression method. Twenty-two chromosome-wise significant QTL were detected. Several of the detected QTL areas were overlapping with milk production QTL previously identified in the same population. Multi-trait QTL analyses were carried out to test...

  8. Refeeding syndrome.

    Science.gov (United States)

    Fernández López, M T; López Otero, M J; Alvarez Vázquez, P; Arias Delgado, J; Varela Correa, J J

    2009-01-01

    Refeeding syndrome is a complex syndrome that occurs as a result of reintroducing nutrition (oral, enteral or parenteral) to patients who are starved or malnourished. Patients can develop fluid-balance abnormalities, electrolyte disorders (hypophosphataemia, hypokalaemia and hypomagnesaemia), abnormal glucose metabolism and certain vitamin deficiencies. Refeeding syndrome encompasses abnormalities affecting multiple organ systems, including neurological, pulmonary, cardiac, neuromuscular and haematological functions. Pathogenic mechanisms involved in the refeeding syndrome and clinical manifestations have been reviewed. We provide suggestions for the prevention and treatment of refeeding syndrome. The most important steps are to identify patients at risk, reintroduce nutrition cautiously and correct electrolyte and vitamin deficiencies properly.

  9. Treacher Collins syndrome: a case review.

    Science.gov (United States)

    Jensen-Steed, Ginger

    2011-12-01

    Treacher Collins syndrome is named after the English surgeon Edward Treacher Collins, who initially described the syndrome's traits in 1900. This rare autosomal dominant disorder affects approximately 1:50 000 live births. It primarily affects the development of facial structures through a mutation in the TCOF1 gene found at the 5q32-33.1 loci. While common facies and phenotype can be described with this syndrome, the gene has a wide variation of expressivity, thus making the diagnosis of mild cases challenging. This study involves a term female diagnosed with Treacher Collins syndrome, who was also diagnosed with Tracheal Esophageal Fistula. She is expected to be of normal intelligence but, as is typical for Treacher Collins syndrome, has conductive hearing loss and therefore is at risk for developmental delay. This article describes her hospital course and outcomes thus far and is intended to guide the bedside practitioner in recognition and guidance of families in the future.

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

    Science.gov (United States)

    Hajek, Peter; Hertel, Dietrich; Leuschner, Christoph

    2013-01-01

    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 improve the match between planted varieties and their growth conditions. We examined the between-deme (genetic) and within-deme (mostly environmental) variation in important fine root traits [mean root diameter, specific root area (SRA) and specific root length (SRL), root tissue density (RTD), root tip abundance, root N concentration] and their co-variation with leaf traits [specific leaf area (SLA), leaf size, leaf N concentration] in eight genetically distinct P. tremula and P. tremuloides demes. Five of the six root traits varied significantly between the demes with largest genotypic variation in root tip abundance and lowest in mean root diameter and RTD (no significant difference). Within-deme variation in root morphology was as large as between-deme variation suggesting a relatively low genetic control. Significant relationships existed neither between SLA and SRA nor between leaf N and root N concentration in a plant. Contrary to expectation, high aboveground relative growth rates (RGR) were associated with large, and not small, fine root diameters with low SRA and SRL. Compared to leaf traits, the influence of root traits on RGR was generally low. We conclude that aspen exhibits large intraspecific variation in leaf and also in root morphological traits which is only partly explained by genetic distances. A root order-related analysis might give deeper insights into intraspecific root trait variation.

  11. A genetic basis for mechanosensory traits in humans.

    Directory of Open Access Journals (Sweden)

    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.

  12. Autism traits in the RASopathies

    OpenAIRE

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

    2013-01-01

    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...

  13. Forming impressions from incongruent traits.

    Science.gov (United States)

    Casselden, P A; Hampson, S E

    1990-08-01

    The factors that affect the ease with which impressions are formed from incongruent trait pairs are investigated. In Experiments 1 and 2, trait pairs that were both descriptively and evaluatively congruent, as well as ones that were only evaluatively congruent, were found to be more imaginable and to be perceived as more frequently co-occurring than incongruent trait pairs. In Experiment 3, response latency provided a converging measure of ease of imaginability. Experiment 4 examined written descriptions of targets described by these trait pairs, and found more attempts to integrate the congruent than the incongruent pairs. These findings are discussed in terms of the relation between laypersons' impressions of personality and formal personality assessment.

  14. Authoritarian Personality Traits Among Students

    Science.gov (United States)

    Dunham, J.

    1973-01-01

    The results are reported of an investigation into the social attitudes of the total population (800) of one English university using Adorno's F scale to measure authoritarian personality traits. (Author)

  15. Forming impressions from incongruent traits.

    Science.gov (United States)

    Casselden, P A; Hampson, S E

    1990-08-01

    The factors that affect the ease with which impressions are formed from incongruent trait pairs are investigated. In Experiments 1 and 2, trait pairs that were both descriptively and evaluatively congruent, as well as ones that were only evaluatively congruent, were found to be more imaginable and to be perceived as more frequently co-occurring than incongruent trait pairs. In Experiment 3, response latency provided a converging measure of ease of imaginability. Experiment 4 examined written descriptions of targets described by these trait pairs, and found more attempts to integrate the congruent than the incongruent pairs. These findings are discussed in terms of the relation between laypersons' impressions of personality and formal personality assessment. PMID:2213498

  16. Nevoid basal cell carcinoma syndrome (Gorlin syndrome

    Directory of Open Access Journals (Sweden)

    Lo Muzio Lorenzo

    2008-11-01

    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

  17. Waardenburg syndrome.

    OpenAIRE

    Read, A P; Newton, V E

    1997-01-01

    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...

  18. Metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Gogia Atul

    2006-02-01

    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

  19. Revesz syndrome

    Directory of Open Access Journals (Sweden)

    Dayane Cristine Issaho

    2015-04-01

    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.

  20. Sweet Syndrome

    OpenAIRE

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

    1996-01-01

    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...

  1. Marfan Syndrome (For Teens)

    Science.gov (United States)

    ... 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, ...

  2. What Is Down Syndrome?

    Science.gov (United States)

    ... 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 ...

  3. Williams syndrome

    Science.gov (United States)

    ... 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 ...

  4. Quantitative Trait Loci Affecting Calving Traits in Danish Holstein Cattle

    DEFF Research Database (Denmark)

    Thomasen, J R; Guldbrandtsen, B; Sørensen, P;

    2008-01-01

    QTL affecting stillbirth and calving difficulties but not calf size that could be used in selection to improve calving performance. Progeny-tested sons (2,297) were genotyped for 356 microsatellites in 34 grandsire families on all 29 autosomes. A total of 27 significant QTL on 17 chromosomes were...... detected using a between-families linear regression model. For the direct calving traits, 4 QTL significantly affected calving difficulty, 5 QTL affected stillbirth, and 7 QTL affected calf size subjectively assessed by the farmer as a categorical trait. When the maternal components of the same traits were...... tested, there were significant effects of 3 QTL on calving difficulty, 6 QTL on stillbirth, and 2 QTL on calf size. The variance component mapping approach was used to estimate the relative posterior probability of linkage and pleiotropic models. The most probable model indicated a pleiotropic QTL...

  5. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ravinder K. Gupta, Ritu Gupta, Sunil Dutt Sharma

    2006-10-01

    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.

  6. Antiphospholipid syndrome

    DEFF Research Database (Denmark)

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

    2002-01-01

    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....

  7. Myelodysplastic Syndromes

    Science.gov (United States)

    ... your body, the white blood cells that fight infections, and the platelets that help with blood clotting. If you have a myelodysplastic syndrome, the stem cells do not mature into healthy blood cells. ... anemia, or easy bleeding. Myelodysplastic syndromes often do ...

  8. Bloom's Syndrome

    Science.gov (United States)

    ... 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 ...

  9. Poland syndrome

    Directory of Open Access Journals (Sweden)

    Chandra Madhur Sharma

    2014-01-01

    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.

  10. Franceschetti syndrome

    Directory of Open Access Journals (Sweden)

    Vikrant Kasat

    2011-01-01

    Full Text Available Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It is commonly known as Treacher Collins syndrome (TCS. It is named after E. Treacher Collins who described the essential components of the condition. It affects both genders equally. This article reports a case of TCS in an 18-year-old female.

  11. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Akcan AB.

    2013-06-01

    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.

  12. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    George Renu

    1993-01-01

    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.

  13. Burnout Syndrome

    OpenAIRE

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

    2013-01-01

    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...

  14. Noonan Syndrome

    Directory of Open Access Journals (Sweden)

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

    2004-10-01

    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.

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

    Science.gov (United States)

    Mahdavi, P.; Bergmeier, E.

    2016-07-01

    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.

  16. Personal traits, cohabitation, and marriage.

    Science.gov (United States)

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

    2014-05-01

    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.

  17. Personal traits, cohabitation, and marriage.

    Science.gov (United States)

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

    2014-05-01

    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

  18. Genetics of reproductive traits: Antagonisms with production traits

    Science.gov (United States)

    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...

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

    Science.gov (United States)

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

    2004-12-01

    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

  20. Kounis syndrome.

    Science.gov (United States)

    Ntuli, P M; Makambwa, E

    2015-10-01

    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

  1. HYDROLETHALUS SYNDROME

    Directory of Open Access Journals (Sweden)

    Aradhana

    2013-06-01

    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.

  2. Neuroacanthocytosis Syndromes

    Directory of Open Access Journals (Sweden)

    Walker Ruth H

    2011-10-01

    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

  3. Hubris syndrome.

    Science.gov (United States)

    Owen, David

    2008-08-01

    Hubris syndrome is associated with power, more likely to manifest itself the longer the person exercises power and the greater the power they exercise. A syndrome not to be applied to anyone with existing mental illness or brain damage. Usually symptoms abate when the person no longer exercises power. It is less likely to develop in people who retain a personal modesty, remain open to criticism, have a degree of cynicism or well developed sense of humour. Four heads of government in the last 100 years are singled out as having developed hubris syndrome: David Lloyd George, Margaret Thatcher, George W Bush and Tony Blair.

  4. Personality traits and personality disorders.

    Science.gov (United States)

    Deary, I J; Peter, A; Austin, E; Gibson, G

    1998-11-01

    The structure of personality disorder traits was examined in a sample of 400 undergraduates who completed the personality disorder questionnaire from the Structured Clinical Interview for DSM-III-R (SCID-II). The relations between personality disorder and normal personality traits indexed by the Eysenck Personality Questionnaire-Revised (EPQ-R) were examined. The three-cluster model of personality traits--as described in the DSM scheme--found equivocal support. Exploratory principal components analysis and confirmatory factor analysis found four broad factors of personality disorder that overlapped with normal personality traits: an asthenic factor related to neuroticism; an antisocial factor associated with psychoticism; an asocial factor linked to introversion-extraversion; and an anankastic (obsessive-compulsive) factor. There is growing agreement about the number and type of broad personality disorder dimensions; similar dimensions may be found in clinical and non-clinical samples, suggesting that those people with personality disorders differ quantitatively rather than qualitatively from others; and there is substantial overlap between normal and abnormal personality dimensions.

  5. Plant traits determine forest flammability

    Science.gov (United States)

    Zylstra, Philip; Bradstock, Ross

    2016-04-01

    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

  6. [Mobius syndrome].

    Science.gov (United States)

    Vladuţiu, Cristina; Duma, Ionela

    2012-01-01

    Mobius syndrom, an anomaly in cranial nerve developement, presents with a remarkable clinical polymorphism. The rare occurence of this pathology and the questions raised by the diagnosis and treatment determined us to make this presentation.

  7. Gardner Syndrome

    Science.gov (United States)

    ... 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 ...

  8. [Heptopulmonary syndrome].

    Science.gov (United States)

    Cuadrado, Antonio; Díaz, Ainhoa; Iruzubieta, Paula; Salcines, José Ramón; Crespo, Javier

    2015-01-01

    Hepatopulmonary syndrome is characterized by the presence of liver disease, pulmonary vascular dilatations, and arterial hypoxemia. It is usually associated with cirrhosis of any origin, but has been described in other liver diseases, both acute and chronic, and not always associated with portal hypertension. The gold standard method to detect pulmonary vascular dilations is contrast enhancement echocardiography with saline and is essential for the diagnosis of hepatopulmonary syndrome. These dilatations reflect changes in the pulmonary microvasculature (vasodilatation, intravascular monocyte accumulation, and angiogenesis) and induce a ventilation/perfusion mismatch, or even true intrapulmonary shunts, which eventually trigger hypoxemia. This syndrome worsens patients' prognosis and impairs their quality of life and may lead to the need for liver transplantation, which is the only effective and definitive treatment. In this article, we review the etiological, pathophysiological, clinical and therapeutic features of this syndrome. PMID:25840463

  9. Piriformis syndrome

    Science.gov (United States)

    ... 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 ...

  10. Potter syndrome

    Science.gov (United States)

    Potter phenotype ... In Potter syndrome, the primary problem is kidney failure. The kidneys fail to develop properly as the baby is ... kidneys normally produce the amniotic fluid (as urine). Potter phenotype refers to a typical facial appearance that ...

  11. Pendred Syndrome

    Science.gov (United States)

    ... Health & Human Services National Institutes of Health Search Search form Search A–Z Index Español Menu Home ... children, the thyroid is important for normal growth and development. Children with Pendred syndrome, however, rarely have problems ...

  12. [Refeeding syndrome].

    Science.gov (United States)

    Ševela, Stanislav; Novák, František; Kazda, Antonín; Brodská, Helena

    2016-01-01

    Despite being known more than 60 years, refeeding syndrome (RS) still bears many uncertainties. For example, its definition is not clear and definite, and the attitude to it varies from the complete neglect to over-prevention.The term "refeeding syndrome" refers to electrolyte and metabolic changes occurring in malnourished patients after the readministration of nutrition. These changes concern especially to phosphates and ions. Potassium, magnesium, naturism and fluids balance are involved. The changes lead to cell energetic metabolism and electric potential disturbances, with related clinical symptoms.Fully developed refeeding syndrome is quite rare; nevertheless it can be fatal for the patient. However, even its development can lead to many complications increasing the patient's morbidity and the length of stay in the hospital. Yet the refeeding syndrome is more or less predictable and if kept in mind also preventable.The aim of this article is to get the reader to know more about this metabolic phenomenon and possible attitudes towards it.

  13. Turner Syndrome

    OpenAIRE

    Ramachandran Sudarshan; G Sree Vijayabala; KS Prem Kumar

    2012-01-01

    Turner syndrome is a genetic disorder that affects mostly females. Affected females have characteristic features such as short stature, premature ovarian failure, and several other features. Oral manifestations of this condition are not much discussed in the literature. But reported literature includes teeth, palate, periodontal and salivary changes. So the aim of this review is to illustrate the general manifestations, and especially the oral manifestations of Turner syndrome and evaluate th...

  14. Pendred's syndrome

    International Nuclear Information System (INIS)

    This report describes Pendred's syndrome in three siblings of a consanguineous marriage, belonging to Rahimyar Khan. The children presented with deafmutism and goiters. The investigations included scintigram, perchlorate discharge test and audiometery. The perchlorate discharge was positive in index case. Bilateral sensorineural hearing defect was detected on Pure Tone Average (PTA) audiometry. Meticulous clinical and laboratory evaluation is mandatory for the detection of rare disorders like Pendred's syndrome. (author)

  15. Fear Inhibition in High Trait Anxiety

    OpenAIRE

    Merel Kindt; Marieke Soeter

    2014-01-01

    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 =...

  16. Heritability of cardiovascular and personality traits in 6,148 Sardinians.

    Directory of Open Access Journals (Sweden)

    Giuseppe Pilia

    2006-08-01

    Full Text Available In family studies, phenotypic similarities between relatives yield information on the overall contribution of genes to trait variation. Large samples are important for these family studies, especially when comparing heritability between subgroups such as young and old, or males and females. We recruited a cohort of 6,148 participants, aged 14-102 y, from four clustered towns in Sardinia. The cohort includes 34,469 relative pairs. To extract genetic information, we implemented software for variance components heritability analysis, designed to handle large pedigrees, analyze multiple traits simultaneously, and model heterogeneity. Here, we report heritability analyses for 98 quantitative traits, focusing on facets of personality and cardiovascular function. We also summarize results of bivariate analyses for all pairs of traits and of heterogeneity analyses for each trait. We found a significant genetic component for every trait. On average, genetic effects explained 40% of the variance for 38 blood tests, 51% for five anthropometric measures, 25% for 20 measures of cardiovascular function, and 19% for 35 personality traits. Four traits showed significant evidence for an X-linked component. Bivariate analyses suggested overlapping genetic determinants for many traits, including multiple personality facets and several traits related to the metabolic syndrome; but we found no evidence for shared genetic determinants that might underlie the reported association of some personality traits and cardiovascular risk factors. Models allowing for heterogeneity suggested that, in this cohort, the genetic variance was typically larger in females and in younger individuals, but interesting exceptions were observed. For example, narrow heritability of blood pressure was approximately 26% in individuals more than 42 y old, but only approximately 8% in younger individuals. Despite the heterogeneity in effect sizes, the same loci appear to contribute to variance

  17. Nonhuman primate models of polycystic ovary syndrome

    OpenAIRE

    David H Abbott; Nicol, Lindsey E.; Levine, Jon E; Xu, Ning; Goodarzi, Mark O.; Dumesic, Daniel A.

    2013-01-01

    With close genomic and phenotypic similarity to humans, nonhuman primate models provide comprehensive epigenetic mimics of polycystic ovary syndrome (PCOS), suggesting early life targeting for prevention. Fetal exposure to testosterone (T), of all nonhuman primate emulations, provides the closest PCOS-like phenotypes, with early-to-mid gestation T-exposed female rhesus monkeys exhibiting adult reproductive, endocrinological and metabolic dysfunctional traits that are co-pathologies of PCOS. L...

  18. Traits Programming with AspectJ

    OpenAIRE

    Denier, Simon

    2005-01-01

    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.

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

    OpenAIRE

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

    2012-01-01

    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...

  20. Combined Bentall and modified Ravitch procedures in a patient with Marfan syndrome

    Directory of Open Access Journals (Sweden)

    Bhuvnesh Kansara

    2013-01-01

    Full Text Available Marfan syndrome is an inherited, connective-tissue disorder transmitted as an autosomal dominant trait. Cardinal features of the disorder include tall stature, ectopia lentis, mitral valve prolapse, aortic root dilatation, and aortic dissection. Pectus excavatum may exist as an isolated lesion or in association with a genetic syndrome such as Marfan syndrome. We report the successful management of a simultaneous correction of pectus excavatum and the underlying cardiovascular diseases.

  1. Using novel control groups to dissect the amygdala’s role in Williams Syndrome

    OpenAIRE

    Thornton-Wells, Tricia A.; Avery, Suzanne N; Blackford, Jennifer Urbano

    2011-01-01

    Williams syndrome is a neurodevelopmental disorder with an intriguing behavioral phenotype—hypersociability combined with significant non-social fears. Previous studies have demonstrated abnormalities in amygdala function in individuals with Williams syndrome compared to typically-developing controls. However, it remains unclear whether the findings are related to the atypical neurodevelopment of Williams syndrome, or are also associated with behavioral traits at the extreme end of a normal c...

  2. Complex pleiotropy characterizes the pollen hoarding syndrome in honey bees (Apis mellifera L.)

    OpenAIRE

    Page, Robert E.; Fondrk, M. Kim; Rueppell, Olav

    2012-01-01

    The pollen hoarding syndrome consists of a large suite of correlated traits in honey bees that may have played an important role in colony organization and consequently the social evolution of honey bees. The syndrome was first discovered in two strains that have been artificially selected for high and low pollen hoarding. These selected strains are used here to further investigate the phenotypic and genetic links between two central aspects of the pollen hoarding syndrome, sucrose responsive...

  3. Burning Mouth Syndrome

    Science.gov (United States)

    ... OralHealth > Topics > Burning Mouth Syndrome > Burning Mouth Syndrome Burning Mouth Syndrome Main Content Key Points Symptoms Diagnosis Primary and Secondary BMS Treatment Helpful Tips Key Points Burning mouth syndrome is burning pain in the mouth that may ...

  4. Learning about Down Syndrome

    Science.gov (United States)

    ... for the genetic terms used on this page Learning About Down Syndrome What is Down syndrome? What ... Down syndrome? People who have Down syndrome have learning difficulties, mental retardation, a characteristic facial appearance, and ...

  5. Exogenous Cushing syndrome

    Science.gov (United States)

    Cushing syndrome - corticosteroid induced; Corticosteroid-induced Cushing syndrome; Iatrogenic Cushing syndrome ... Cushing syndrome is a disorder that occurs when your body has a higher than normal level of the ...

  6. Turner Syndrome: Other FAQs

    Science.gov (United States)

    ... NICHD Research Information Clinical Trials Resources and Publications Turner Syndrome: Other FAQs Skip sharing on social media links ... been diagnosed with Turner syndrome. Now what? Is Turner syndrome inherited? Turner syndrome is usually not inherited, but ...

  7. The Investigation of Sudden Arrhythmic Death Syndrome (SADS – the current approach to family screening and the future role of genomics & stem cell technology

    Directory of Open Access Journals (Sweden)

    Vishal eVyas

    2013-09-01

    Full Text Available SADS is defined as sudden death under the age of 40 years old in the absence of structural heart disease. Family screening studies are able to identify a cause in up to 50% of cases-most commonly long QT syndrome, Brugada and early repolarisation syndrome, and catecholaminergic polymorphic ventricular tachycardia using standard clinical screening investigations including pharmacological challenge testing. These diagnoses may be supported by genetic testing which can aid cascade screening and may help guide management. In the current era it is possible to undertake molecular autopsy provided suitable samples of DNA can be obtained from the proband. With the evolution of rapid sequencing techniques it is possible to sequence the whole exome for candidate genes. This major advance offers the opportunity to identify novel causes of lethal arrhythmia but also poses the challenge of managing the volume of data generated and evaluating variants of unknown significance. The emergence of induced pluripotent stem cell technology could enable evaluation of the electrophysiological relevance of specific ion channel mutations in the proband or their relatives and will potentially enable screening of idiopathic ventricular fibrillation survivors combining genetic and electrophysiological studies in derived myocytes. This also could facilitate the assessment of personalised preventative pharmacological therapies. This review will evaluate the current screening strategies in SADS families, the role of molecular autopsy and genetic testing and the potential applications of molecular and cellular diagnostic strategies on the horizon.

  8. Functional trait responses to grazing are mediated by soil moisture and plant functional group identity.

    Science.gov (United States)

    Zheng, Shuxia; Li, Wenhuai; Lan, Zhichun; Ren, Haiyan; Wang, Kaibo

    2015-12-11

    Abundant evidence has shown that grazing alters plant functional traits, community structure and ecosystem functioning of grasslands. Few studies, however, have tested how plant responses to grazing are mediated by resource availability and plant functional group identity. We examined the effects of grazing on functional traits across a broad range of species along a soil moisture gradient in Inner Mongolia grassland. Our results showed that trait syndromes of plant size (individual biomass) and shoot growth (leaf N content and leaf density) distinguished plant species responses to grazing. The effects of grazing on functional traits were mediated by soil moisture and dependent on functional group identity. For most species, grazing decreased plant height but increased leaf N and specific leaf area (SLA) along the moisture gradient. Grazing enhanced the community-weighted attributes (leaf NCWM and SLACWM), which were triggered mainly by the positive trait responses of annuals and biennials and perennial grasses, and increased relative abundance of perennial forbs. Our results suggest that grazing-induced species turnover and increased intraspecific trait variability are two drivers for the observed changes in community weighted attributes. The dominant perennial bunchgrasses exhibited mixed tolerance-resistance strategies to grazing and mixed acquisitive-conservative strategies in resource utilization.

  9. Functional trait responses to grazing are mediated by soil moisture and plant functional group identity.

    Science.gov (United States)

    Zheng, Shuxia; Li, Wenhuai; Lan, Zhichun; Ren, Haiyan; Wang, Kaibo

    2015-01-01

    Abundant evidence has shown that grazing alters plant functional traits, community structure and ecosystem functioning of grasslands. Few studies, however, have tested how plant responses to grazing are mediated by resource availability and plant functional group identity. We examined the effects of grazing on functional traits across a broad range of species along a soil moisture gradient in Inner Mongolia grassland. Our results showed that trait syndromes of plant size (individual biomass) and shoot growth (leaf N content and leaf density) distinguished plant species responses to grazing. The effects of grazing on functional traits were mediated by soil moisture and dependent on functional group identity. For most species, grazing decreased plant height but increased leaf N and specific leaf area (SLA) along the moisture gradient. Grazing enhanced the community-weighted attributes (leaf NCWM and SLACWM), which were triggered mainly by the positive trait responses of annuals and biennials and perennial grasses, and increased relative abundance of perennial forbs. Our results suggest that grazing-induced species turnover and increased intraspecific trait variability are two drivers for the observed changes in community weighted attributes. The dominant perennial bunchgrasses exhibited mixed tolerance-resistance strategies to grazing and mixed acquisitive-conservative strategies in resource utilization. PMID:26655858

  10. Bacteriocin Production: a Probiotic Trait?

    OpenAIRE

    Dobson, Alleson; Cotter, Paul D.; Ross, R. Paul; Hill, Colin

    2012-01-01

    Bacteriocins are an abundant and diverse group of ribosomally synthesized antimicrobial peptides produced by bacteria and archaea. Traditionally, bacteriocin production has been considered an important trait in the selection of probiotic strains, but until recently, few studies have definitively demonstrated the impact of bacteriocin production on the ability of a strain to compete within complex microbial communities and/or positively influence the health of the host. Although research in th...

  11. Pfeiffer syndrome

    Directory of Open Access Journals (Sweden)

    Fryns Jean-Pierre

    2006-06-01

    Full Text Available Abstract Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three clinical subtypes. Type 1 "classic" Pfeiffer syndrome involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities; it is associated with normal intelligence and generally good outcome. Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Clinical overlap between the three types may occur. Pfeiffer syndrome affects about 1 in 100,000 individuals. The disorder can be caused by mutations in the fibroblast growth factor receptor genes FGFR-1 or FGFR-2. Pfeiffer syndrome can be diagnosed prenatally by sonography showing craniosynostosis, hypertelorism with proptosis, and broad thumb, or molecularly if it concerns a recurrence and the causative mutation was found. Molecular genetic testing is important to confirm the diagnosis. Management includes multiple-staged surgery of craniosynostosis. Midfacial surgery is performed to reduce the exophthalmos and the midfacial hypoplasia.

  12. Antiphospholipid syndrome.

    Science.gov (United States)

    Ruiz-Irastorza, Guillermo; Crowther, Mark; Branch, Ware; Khamashta, Munther A

    2010-10-30

    The antiphospholipid syndrome causes venous, arterial, and small-vessel thrombosis; pregnancy loss; and preterm delivery for patients with severe pre-eclampsia or placental insufficiency. Other clinical manifestations are cardiac valvular disease, renal thrombotic microangiopathy, thrombocytopenia, haemolytic anaemia, and cognitive impairment. Antiphospholipid antibodies promote activation of endothelial cells, monocytes, and platelets; and overproduction of tissue factor and thromboxane A2. Complement activation might have a central pathogenetic role. Of the different antiphospholipid antibodies, lupus anticoagulant is the strongest predictor of features related to antiphospholipid syndrome. Therapy of thrombosis is based on long-term oral anticoagulation and patients with arterial events should be treated aggressively. Primary thromboprophylaxis is recommended in patients with systemic lupus erythematosus and probably in purely obstetric antiphospholipid syndrome. Obstetric care is based on combined medical-obstetric high-risk management and treatment with aspirin and heparin. Hydroxychloroquine is a potential additional treatment for this syndrome. Possible future therapies for non-pregnant patients with antiphospholipid syndrome are statins, rituximab, and new anticoagulant drugs. PMID:20822807

  13. Megalocornea-mental retardation syndrome: report of a new case.

    OpenAIRE

    Barisić, I; Ligutić, I; Zergollern, L

    1996-01-01

    Megalocornea-mental retardation syndrome (MMR) is a rare autosomal recessive disorder presenting with megalocornea, mental and motor retardation, hypotonia, seizures, short stature, and characteristic dysmorphic traits (MIM 249310). We present a new case in order to delineate with more accuracy the typical phenotype.

  14. Osteoprotegerin in Turner syndrome - relationship to aortic diameter

    DEFF Research Database (Denmark)

    Trolle, Christian; Mortensen, Kristian Havmand; Bjerre, Mette;

    2015-01-01

    BACKGROUND: Cardiovascular disease is a cardinal trait of Turner syndrome (TS), causing half of the 3-fold excess mortality. Since osteoprotegerin (OPG) is as a potential biomarker of cardiovascular disease, this cross-sectional and prospective study aimed at elucidating OPG levels in TS and its...

  15. Analysis of the electrocardiographic and clinical characteristics of patients with Brugada syndrome%Brugada综合征患者的心电图及临床特点分析

    Institute of Scientific and Technical Information of China (English)

    江茜; 周勇; 柯琰

    2008-01-01

    目的 分析BrugMa综合征患者的心电图及临床特点.方法 对我院近5年诊断的8例Brugada综合征住院患者的心电图及临床情况进行长期随访观察.结果 8例Brugada综合征患者均为男性,年龄平均(40±13)岁.心电图Ⅰ型Brugada波者3例,Ⅱ型4例,Ⅲ型1例;Brugada波具有多变性,提高肋间描记右胸导联心电图可显现Brugada波或使其更明显.8例中4例有猝死家族史,5例有晕厥史,3例在住院期间发生室速/室颤,随访期间2例猝死.结论 心电图Brugada波(尤其Ⅰ型)是诊断Brugada综合征的必要条件,明确诊断Brugada综合征尚需联合其他几项临床指标;Brugada综合征患者猝死的风险高,消除晕厥或室速/室颤的诱因是预防的关键.

  16. Heredity and genetic mapping of domestication-related traits in a temperate Japonica weedy rice

    OpenAIRE

    Bres-Patry, C.; Lorieux, Mathias; Clément, G; Bangratz, M.; Ghesquière, Alain

    2001-01-01

    Rice is often found as various weedy forms in temperate or newly cultivated rice growing regions throughout the world. The emergence of these forms in the absence of true wild rice remains unclear. A genetic analysis of domestication-related traits (weed syndrome) has been conducted to better understand the appearance of these plants in rice fields. A doubled haploid (DH) population was derived from a cross between a #japonica$ variety and a weedy plant collected in Camarque (France) to set u...

  17. Compartment syndromes

    Science.gov (United States)

    Mubarak, S. J.; Pedowitz, R. A.; Hargens, A. R.

    1989-01-01

    The compartment syndrome is defined as a condition in which high pressure within a closed fascial space (muscle compartment) reduces capillary blood perfusion below the level necessary for tissue viability'. This condition occurs in acute and chronic (exertional) forms, and may be secondary to a variety of causes. The end-result of an extended period of elevated intramuscular pressure may be the development of irreversible tissue injury and Volkmann's contracture. The goal of treatment of the compartment syndrome is the reduction of intracompartmental pressure thus facilitating reperfusion of ischaemic tissue and this goal may be achieved by decompressive fasciotomy. Controversy exists regarding the critical pressure-time thresholds for surgical decompression and the optimal diagnostic methods of measuring intracompartmental pressures. This paper will update and review some current knowledge regarding the pathophysiology, aetiology, diagnosis, and treatment of the acute compartment syndrome.

  18. Microcephaly syndromes.

    Science.gov (United States)

    Abuelo, Dianne

    2007-09-01

    The objective of this article is to review microcephaly from a genetics point of view, especially with regard to the process of identification of syndromes in which small head circumference occurs. Microcephaly can be due to either genetic or environmental causes. It can be the only positive finding or may be part of a syndrome of congenital anomalies. The genetic etiology can be caused by autosomal dominant, autosomal recessive, or X-linked genes or various types of chromosome anomalies. Some of the gene mutations have been identified recently. Syndromic microcephaly is associated with a large number of conditions. Some can be diagnosed, or at least suspected, based on their characteristic facial dysmorphism, and others can be searched for using databases of genetic disorders.

  19. Refeeding syndrome

    Directory of Open Access Journals (Sweden)

    Tripathy Swagata

    2008-01-01

    Full Text Available We report a case of a fifty-year-old male who was admitted with a three month history of increasing weakness, prostration, decreasing appetite and inability to swallow. The patient was a chronic alcoholic, unemployed, and of very poor socioeconomic background. The patient was initially investigated for upper GI malignancy, Addisons disease, bulbar palsy and other endocrinopathies. Concurrent management was started for severe electrolyte abnormalities and enteral nutritional supplementation was begun. By the fourth day of feeding patient developed severe hypophosphatemia and other life-threatening features suggesting refeeding syndrome. The patient was managed for the manifestations of refeeding syndrome. A final diagnosis of chronic alcoholic malnutrition with refeeding syndrome was made. Refeeding of previously starving patients may lead to a variety of complications including sudden death.

  20. Multiple trait genetic evaluation of ewe traits in Icelandic sheep.

    Science.gov (United States)

    Arnason, T; Jónmundsson, J V

    2008-12-01

    The prolificacy of the ewes was measured as the number of lambs born per ewe mated (NLB) when the ewes were 1-4 years of age. The ewe productivity related to the same age interval was measured by special ewe production indices (EPI). The genetic parameters for these traits were estimated by a series of bivariate REML analyses using animal models. The material used for the genetic analysis contained records on 193,213 ewes. The heritability estimates for NLB were h(2) = 0.17, 0.13, 0.11, 0.10 for the four respective age classes. Corresponding estimates for EPI were h(2) = 0.16, 0.17, 0.17, 0.15. The genetic correlations among NLB at different ages ranged from 0.63 to 0.98 and among EPI from 0.82 to 0.99. The genetic correlations between NLB and EPI were generally low. The material used for estimating the breeding values by the MT-BLUP Animal Model consisted of 1.5 million individuals in the pedigree file. In total 815,782 ewes had records for the NLB and 763,491 ewes had production index (at least 1 year). The records were registered in the years 1990-2006. All possible missing patterns were present in the data. In the iteration process expected values for missing traits were generated and solutions were obtained on canonical transformed scale. The genetic evaluations were run independently for NLB and EPI for computational convenience given the correlations between these traits were negligible.

  1. Eisenmengers syndrom

    DEFF Research Database (Denmark)

    Jensen, Annette Schophuus; Iversen, Kasper; Vejlstrup, Niels G;

    2009-01-01

    -to-left shunt and cyanosis. Patients with Eisenmenger syndrome suffer a high risk of complications in connection with acute medical conditions, extra-cardiac surgery and pregnancy. This article describes the precautions that should be taken to reduce morbidity and mortality in these patients. Udgivelsesdato......Congenital heart disease with left-to-right shunt can induce proliferation, vasoconstriction and thrombosis in the pulmonary vascular bed. Eventually, the patient may develop Eisenmenger syndrome defined as pulmonary arterial hypertension caused by high pulmonary vascular resistance with right...

  2. Morbihan syndrome

    Directory of Open Access Journals (Sweden)

    Stefano Veraldi

    2013-01-01

    Full Text Available We report a case of severe Morbihan syndrome (chronic erythematous edema of the upper portion of the face in a 60-year-old man. The syndrome was characterized clinically by erythematous edema involving the forehead, glabella, and both eyelids, because of which the patient was not able to open completely his eyes. Furthermore, erythema and telangiectasiae were visible on the nose and cheeks. Laboratory and instrumental examinations were within normal ranges or negative. Histopathological examination showed dermal edema, perivascular and periadnexal lympho-histiocytic infiltrate, and sebaceous gland hyperplasia. Oral isotretinoin was ineffective despite the relatively long duration of the therapy (26 weeks.

  3. Rapunzel syndrome

    International Nuclear Information System (INIS)

    An 18-year-old single female patient, presented with non specific gastrointestinal symptoms of anorexia, abdominal pain, and change in bowel habit. Clinically she was anemic, cachectic, and depressed. Abdominal examination revealed mobile epigastric mass. The scalp alopecia and endoscopy coupled by computed tomography scan, confirmed the diagnoses of trichobezoar, but it was not diagnosed as Rapunzel syndrome except after laparotomy, gastrotomy, and enterotomy. There are less than 16 cases of Rapunzel syndrome described worldwide, and this is the first case to be described in the middle east. (author)

  4. Waardenburg syndrome

    Directory of Open Access Journals (Sweden)

    Tagra Sunita

    2006-01-01

    Full Text Available Waardenburg syndrome is a rare inherited and genetically heterogenous disorder of neural crest cell development. Four distinct subtypes showing marked interfamilial and intrafamilial variability have been described. We report a girl showing constellation of congenital hearing impairment with 110 dB and 105 dB loss in right and left ear respectively, hypoplastic blue iridis, white forelock, dystopia canthorum and broad nasal root. Other affected relatives of the family, with variable features of the syndrome, have been depicted in the pedigree.

  5. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ramachandran Sudarshan

    2012-08-01

    Full Text Available Turner syndrome is a genetic disorder that affects mostly females. Affected females have characteristic features such as short stature, premature ovarian failure, and several other features. Oral manifestations of this condition are not much discussed in the literature. But reported literature includes teeth, palate, periodontal and salivary changes. So the aim of this review is to illustrate the general manifestations, and especially the oral manifestations of Turner syndrome and evaluate their possible management. [Archives Medical Review Journal 2012; 21(4.000: 246-252

  6. Olmsted syndrome

    Directory of Open Access Journals (Sweden)

    Kumar Pramod

    2008-01-01

    Full Text Available Olmsted syndrome is a rare disorder characterized by the combination of periorificial, keratotic plaques and bilateral palmoplantar keratoderma. New associated features are being reported. Olmsted syndrome is particularly rare in a female patient, and we report such a case in a six year-old Indian girl, who presented with keratoderma of her soles since birth and on her palms since the age of two years along with perioral and perinasal hyperkeratosis. She had sparse, light brown, thin hair. Although the psychomotor development of the child was normal until 18 months of age, the keratoderma plaques had restricted the child′s mobility after that stage.

  7. Eagle syndrome

    International Nuclear Information System (INIS)

    Eagle syndrome occurs due to elongation of the styloid process or calcification of the stylohyoid ligament, which then may produce a pain sensation due the pressure exerted on various structures in the head and neck. When suspected, imaging helps in identifying the abnormally elongated styloid process or the calcified ligament. In recent years, three-dimensional CT (3DCT) has proved to be valuable in these cases. We report the case of a 62-year-old man with this syndrome in whom imaging with 3DCT conclusively established the diagnosis

  8. Lemierre's syndrome.

    LENUS (Irish Health Repository)

    O'Dwyer, D N

    2012-02-01

    Lemierre\\'s syndrome is a rare disease that results in an oropharyngeal infection, which precipitates an internal jugular vein thrombosis and metastatic infection. Fusobacterium necrophorum is an anaerobic Gram-negative bacillus and has been identified as the causative agent. We describe the case of a young girl whose presentation and diagnosis were confounded by a history of valvular heart disease. Infection of heart valves can produce many of the signs and symptoms associated with Lemierre\\'s syndrome. We describe the diagnosis, investigation and optimal management of this rare disorder.

  9. Morbihan syndrome.

    Science.gov (United States)

    Veraldi, Stefano; Persico, Maria Chiara; Francia, Claudia

    2013-04-01

    We report a case of severe Morbihan syndrome (chronic erythematous edema of the upper portion of the face) in a 60-year-old man. The syndrome was characterized clinically by erythematous edema involving the forehead, glabella, and both eyelids, because of which the patient was not able to open completely his eyes. Furthermore, erythema and telangiectasiae were visible on the nose and cheeks. Laboratory and instrumental examinations were within normal ranges or negative. Histopathological examination showed dermal edema, perivascular and periadnexal lympho-histiocytic infiltrate, and sebaceous gland hyperplasia. Oral isotretinoin was ineffective despite the relatively long duration of the therapy (26 weeks).

  10. Gorlin Syndrome

    Directory of Open Access Journals (Sweden)

    Siroos Risbaf

    2013-01-01

    Full Text Available Gorlin syndrome is a dominant autosomal familial disorder. The manifestations begin at an early age and a combination of phenotypic abnormalities such special facial appearance, jaw cysts and skeletal anomalies are seen in this disease. A 22-year-old woman referred to Zahedan Dental School complaining of pain on the left cheek. During the examination, several cutaneous lesions in the neck, pits in palm and sole and multiple jaw cysts were observed. According to the clinical symptoms, lesion biopsy and reports of Gorlin syndrome radiography were presented.

  11. Burnout syndrome

    OpenAIRE

    Bábská, Simona

    2014-01-01

    This bachelor thesis deals with the so-called burnout syndrome, which, as I believe, is getting to be a serious problem in today´s busy world. This issue deserves a full attention especially from those concerned – workers in assisting professions. What usually precedes the burnout syndrome is a big enthusiasm and motivation for work in which a potential patient can help other people and get them out of their troubles, sometimes he /she feels even like having a mission. However, without kno...

  12. Ellis-Van Creveld syndrome

    Directory of Open Access Journals (Sweden)

    Le Merrer Martine

    2007-06-01

    Full Text Available Abstract Ellis-van Creveld syndrome (EVC is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects. It is a rare disease with approximately 150 cases reported worldwide. The exact prevalence is unknown, but the syndrome seems more common among the Amish community. Prenatal abnormalities (that may be detected by ultrasound examination include narrow thorax, shortening of long bones, hexadactyly and cardiac defects. After birth, cardinal features are short stature, short ribs, polydactyly, and dysplastic fingernails and teeth. Heart defects, especially abnormalities of atrial septation, occur in about 60% of cases. Cognitive and motor development is normal. This rare condition is inherited as an autosomal recessive trait with variable expression. Mutations of the EVC1 and EVC2 genes, located in a head to head configuration on chromosome 4p16, have been identified as causative. EVC belongs to the short rib-polydactyly group (SRP and these SRPs, especially type III (Verma-Naumoff syndrome, are discussed in the prenatal differential diagnosis. Postnatally, the essential differential diagnoses include Jeune dystrophy, McKusick-Kaufman syndrome and Weyers syndrome. The management of EVC is multidisciplinary. Management during the neonatal period is mostly symptomatic, involving treatment of the respiratory distress due to narrow chest and heart failure. Orthopedic follow-up is required to manage the bones deformities. Professional dental care should be considered for management of the oral manifestations. Prognosis is linked to the respiratory difficulties in the first months of life due to thoracic narrowness and possible heart defects. Prognosis of the final body height is difficult to predict.

  13. The metabolic vascular syndrome - guide to an individualized treatment.

    Science.gov (United States)

    Hanefeld, Markolf; Pistrosch, Frank; Bornstein, Stefan R; Birkenfeld, Andreas L

    2016-03-01

    In ancient Greek medicine the concept of a distinct syndrome (going together) was used to label 'a group of signs and symptoms' that occur together and 'characterize a particular abnormality and condition'. The (dys)metabolic syndrome is a common cluster of five pre-morbid metabolic-vascular risk factors or diseases associated with increased cardiovascular morbidity, fatty liver disease and risk of cancer. The risk for major complications such as cardiovascular diseases, NASH and some cancers develops along a continuum of risk factors into clinical diseases. Therefore we still include hyperglycemia, visceral obesity, dyslipidemia and hypertension as diagnostic traits in the definition according to the term 'deadly quartet'. From the beginning elevated blood pressure and hyperglycemia were core traits of the metabolic syndrome associated with endothelial dysfunction and increased risk of cardiovascular disease. Thus metabolic and vascular abnormalities are in extricable linked. Therefore it seems reasonable to extend the term to metabolic-vascular syndrome (MVS) to signal the clinical relevance and related risk of multimorbidity. This has important implications for integrated diagnostics and therapeutic approach. According to the definition of a syndrome the rapid global rise in the prevalence of all traits and comorbidities of the MVS is mainly caused by rapid changes in life-style and sociocultural transition resp. with over- and malnutrition, low physical activity and social stress as a common soil. PMID:26956847

  14. Trait-based tests of coexistence mechanisms.

    Science.gov (United States)

    Adler, Peter B; Fajardo, Alex; Kleinhesselink, Andrew R; Kraft, Nathan J B

    2013-10-01

    Recent functional trait studies have shown that trait differences may favour certain species (environmental filtering) while simultaneously preventing competitive exclusion (niche partitioning). However, phenomenological trait-dispersion analyses do not identify the mechanisms that generate niche partitioning, preventing trait-based prediction of future changes in biodiversity. We argue that such predictions require linking functional traits with recognised coexistence mechanisms involving spatial or temporal environmental heterogeneity, resource partitioning and natural enemies. We first demonstrate the limitations of phenomenological approaches using simulations, and then (1) propose trait-based tests of coexistence, (2) generate hypotheses about which plant functional traits are likely to interact with particular mechanisms and (3) review the literature for evidence for these hypotheses. Theory and data suggest that all four classes of coexistence mechanisms could act on functional trait variation, but some mechanisms will be stronger and more widespread than others. The highest priority for future research is studies of interactions between environmental heterogeneity and trait variation that measure environmental variables at within-community scales and quantify species' responses to the environment in the absence of competition. Evidence that similar trait-based coexistence mechanisms operate in many ecosystems would simplify biodiversity forecasting and represent a rare victory for generality over contingency in community ecology. PMID:23910482

  15. Marfan syndrome masked by Down syndrome?

    NARCIS (Netherlands)

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

    2009-01-01

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

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

    Science.gov (United States)

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

    2013-01-01

    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 solids (degrees Brix; °Bx) in tomato fruit. The purpose of the present work was to pyramid into cultivated varieties the selected QTL for enhanced antioxidant and °Bx content. To better understand the genetic architecture of each QTL, the two ILs were crossed to the recurrent parent M82 (ILH7-3 and ILH12-4) and between them (ILH7-3+12-4). F1 hybrids (ILH7-3+12-4) were then selfed up to obtain F3 progenies in order to stabilize the favourable traits at the homozygous condition. Species-specific molecular markers were identified for each introgressed region and allowed us to select four F2 genotypes carrying both introgressions at the homozygous condition. The F3 double homozygous plants displayed AsA, total phenols and °Bx content significantly higher than M82. Therefore, they may represent suitable genetic material for breeding schemes aiming to increase antioxidant content in tomato fruit. PMID:23316114

  17. Marfan syndrome masked by Down syndrome?

    OpenAIRE

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

    2009-01-01

    Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome. Although variable expression is known to be present in Marfan syndrome, phenotypic expression of Marfan syndrome in our patient might be masked by the co-occurrence of Down syndrome. (Neth Heart J 2009;1...

  18. Metabolic Syndrome

    Science.gov (United States)

    ... If you already have metabolic syndrome, making these healthy lifestyle choices can help reduce your risk of heart disease and other health problems. If lifestyle changes alone can’t control your ... to help. Maintain a healthy weight Your doctor can measure your body mass ...

  19. Rett Syndrome.

    Science.gov (United States)

    Culbert, Linda A.

    This pamphlet reviews the historical process involved in initially recognizing Rett Syndrome as a specific disorder in girls. Its etiology is unknown, but studies have considered factors as hyperammonemia, a two-step mutation, a fragile X chromosome, metabolic disorder, environmental causation, dopamine deficiency, and an inactive X chromosome.…

  20. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    Debi Basanti

    2005-01-01

    Full Text Available Proteus syndrome is a variable and complex disorder characterized by multifocal overgrowths affecting any tissue or structure of the body. We present a girl aged 3 years and 8 months with an epidermal nevus, port-wine stain, macrodactyly with gigantism of the feet, lymphohemagiomas and multiple lipomas.

  1. Nodding Syndrome

    Centers for Disease Control (CDC) Podcasts

    2013-12-19

    Dr. Scott Dowell, a CDC director, discusses the rare illness, nodding syndrome, in children in Africa.  Created: 12/19/2013 by National Center for Emerging and Zoonotic Infectious Diseases (NCEZID).   Date Released: 1/27/2014.

  2. Tourette Syndrome

    Science.gov (United States)

    ... writing, painting, or making music help focus the mind on other things. There's speculation that the composer Mozart had TS. Find support. The Tourette Syndrome Association sponsors support groups with others who understand the challenges of TS. Take control. People with TS can feel more in control ...

  3. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine; Bødtger, Uffe; Heltberg, Ole

    2014-01-01

    a variety of infectious complications. Rapid diagnosis and treatment is necessary to avoid severe complications or death. Close collaboration with local microbiologist is pivotal. Treatment consists of longterm treatment with penicillin and metronidazole. This is a case report of Lemierre's syndrome....

  4. Usher Syndrome

    Science.gov (United States)

    ... of their hearing within the first year of life. Progressive vision loss caused by retinitis pigmentosa becomes occurs in childhood. ... type III have progressive hearing loss and vision loss beginning in the first few decades of life. Unlike the other forms of Usher syndrome, infants ...

  5. Robinow Syndrome

    Directory of Open Access Journals (Sweden)

    Gökhan Gökalp

    2010-05-01

    Full Text Available Introduction: Robinow syndrome is characterized by dwarfism demonstrating short-limbed extremities, vertebral malsegmentation/malformation (hemivertebra, costal dysplasia, genital hypoplasia, and fetal facial appearance (wide and prominent forehead, hypertelorism, small and wide nose, molar hypoplasia, and retrognathia. It is a rare genetic disease which may present with either mild autosomal dominant form or severe recessive form. Vertebral and costal abnormalities are common diagnostic signs that may be severe. The disease presents with kyphoscoliosis and chest abnormalities along with thoracic vertebral fusion and hemivertebral appearance. Ribs may demonstrate fusion. Based on those involvements, the disease can be categorized as spondylothoracic, spondylocostal, ischiovertebral dysplasia, and cervicofaciothoracic syndrome.Diagnosis is established by the help of clinical characteristics. Radiography might contribute to the diagnosis by revealing changes in the skeletal system. Case Report: A three-year-old male patient presented with operated left undescendent testis and buried penis. On physical examination, he also had a dysmorphic face characterized by macrocephaly, hypertelorism, prominent eyes, a flattened nasal bridge, triangular-fish mouth, gingival hypertrophy and left hand clinodactyly. Radiographic examination documented mesomelic shortening of the radius-ulna, malsegmentation of the thoracal spine and the ribs fusion.Conclusion: Robinow syndrome is a rare syndrome which can be diagnosed by typical facial appearance and radiologic findings. (Journal of Current Pediatrics 2010; 8: 44-7

  6. Metabolic syndrome

    Institute of Scientific and Technical Information of China (English)

    Charles Shaeffer

    2004-01-01

    @@ The emergence of cardiac disease as the number one world-wide cause of death justifies efforts to identify individuals at higher risk for preventive therapy. The metabolic syndrome, originally described by Reaven, 1 has been associated with higher cardiovascular disease risk. 2 Type Ⅱ diabetes is also a frequent sequela. 3

  7. Metabolic Syndrome

    Science.gov (United States)

    Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These conditions are High blood pressure High blood glucose, or blood sugar, levels High levels of triglycerides, a type of fat, in your blood Low ...

  8. [Refeeding syndrome].

    Science.gov (United States)

    Ševela, Stanislav; Novák, František; Kazda, Antonín; Brodská, Helena

    2016-01-01

    Despite being known more than 60 years, refeeding syndrome (RS) still bears many uncertainties. For example, its definition is not clear and definite, and the attitude to it varies from the complete neglect to over-prevention.The term "refeeding syndrome" refers to electrolyte and metabolic changes occurring in malnourished patients after the readministration of nutrition. These changes concern especially to phosphates and ions. Potassium, magnesium, naturism and fluids balance are involved. The changes lead to cell energetic metabolism and electric potential disturbances, with related clinical symptoms.Fully developed refeeding syndrome is quite rare; nevertheless it can be fatal for the patient. However, even its development can lead to many complications increasing the patient's morbidity and the length of stay in the hospital. Yet the refeeding syndrome is more or less predictable and if kept in mind also preventable.The aim of this article is to get the reader to know more about this metabolic phenomenon and possible attitudes towards it. PMID:27088791

  9. Gitelman syndrome.

    NARCIS (Netherlands)

    Knoers, N.V.A.M.; Levtchenko, E.N.

    2008-01-01

    Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The prevalence is estimated at approximately 1:40,000 and accordingly, the prevalence

  10. Noonan syndrome.

    NARCIS (Netherlands)

    Burgt, I. van der

    2007-01-01

    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

  11. Biological and ecological traits of marine species

    OpenAIRE

    Costello, M.J.; Claus, S.; Dekeyzer, S; Vandepitte, L.; Ó Tuama, É.; Lear, D.; Tyler-Walters, H.

    2015-01-01

    This paper reviews the utility and availability of biological and ecological traits for marine species so as to prioritise the development of a world database on marine species traits. In addition, the ‘status’ of species for conservation, that is, whether they are introduced or invasive, of fishery or aquaculture interest, harmful, or used as an ecological indicator, were reviewed because these attributes are of particular interest to society. Whereas traits are an enduring characteristic of...

  12. Quantitative Trait Loci in Inbred Lines

    OpenAIRE

    Jansen, R. C.

    2001-01-01

    Quantitative traits result from the influence of multiple genes (quantitative trait loci) and environmental factors. Detecting and mapping the individual genes underlying such 'complex' traits is a difficult task. Fortunately, populations obtained from crosses between inbred lines are relatively ideal for this - at least far more ideal than livestock and human populations - and true multigenic models are now available and have been applied successfully. In this chapter we will introduce the r...

  13. Plants with useful traits and related methods

    Energy Technology Data Exchange (ETDEWEB)

    Mackenzie, Sally Ann; De la Rosa Santamaria, Roberto

    2016-10-25

    The present invention provides methods for obtaining plants that exhibit useful traits by transient suppression of the MSH1 gene of the plants. Methods for identifying genetic loci that provide for useful traits in plants and plants produced with those loci are also provided. In addition, plants that exhibit the useful traits, parts of the plants including seeds, and products of the plants are provided as well as methods of using the plants.

  14. The Source for Syndromes.

    Science.gov (United States)

    Richard, Gail J.; Hoge, Debra Reichert

    Designed for practicing speech-language pathologists, this book discusses different syndrome disabilities, pertinent speech-language characteristics, and goals and strategies to begin intervention efforts at a preschool level. Chapters address: (1) Angelman syndrome; (2) Asperger syndrome; (3) Down syndrome; (4) fetal alcohol syndrome; (5) fetal…

  15. Sex and the syndrome: individual and population consistency in behaviour in rock pool prawn Palaemon elegans.

    Directory of Open Access Journals (Sweden)

    Ben B Chapman

    Full Text Available 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 that prawns are temporally consistent in a range of behaviours, including activity, exploration and boldness, and also that a behavioural syndrome is evident in this population. We find correlations between many behavioural traits (activity, boldness, shoaling and exploration. In addition, behavioural syndrome structure was consistent over time. Finally, few studies have explicitly studied the role of sex differences in personality traits, behavioural consistency and syndrome structure. We report behavioural differences between male and female prawns but no differences in patterns of consistency. Our study adds to the growing literature on animal personality, and provides evidence showing that syndromes themselves can exhibit temporal consistency.

  16. Understanding rice adaptation to varying agro-ecosystems: trait interactions and quantitative trait loci

    OpenAIRE

    Dixit, Shalabh; Grondin, Alexandre; Lee, Cheng-Ruei; Henry, Amelia; Olds, Thomas-Mitchell; Kumar, Arvind

    2015-01-01

    Background Interaction and genetic control for traits influencing the adaptation of the rice crop to varying environments was studied in a mapping population derived from parents (Moroberekan and Swarna) contrasting for drought tolerance, yield potential, lodging resistance, and adaptation to dry direct seeding. A BC2F3-derived mapping population for traits related to these four trait groups was phenotyped to understand the interactions among traits and to map and align QTLs using composite i...

  17. Beware the angry leader: Trait anger and trait anxiety as predictors of petty tyranny

    OpenAIRE

    Kant, Leo; SKOGSTAD, Anders; Torsheim, Torbjørn; Einarsen, Ståle

    2013-01-01

    Drawing on the general aggression model and theories of victimization and temperamental goodness-of-fit, we investigated trait anger and trait anxiety as antecedents of petty tyranny: employing a multilevel design with data from 84 sea captains and 177 crew members. Leader trait anger predicted subordinate-reported petty tyranny. Subordinate trait anxiety was associated with subordinate-reported petty tyranny. Theassociation between leader traitanger and subordinate-reported pe...

  18. Components of Young Children's Trait Understanding: Behavior-to-Trait Inferences and Trait-to-Behavior Predictions

    Science.gov (United States)

    Liu, David; Gelman, Susan A.; Wellman, Henry M.

    2007-01-01

    Trait attribution is central to people's naive theories of people and their actions. Previous developmental research indicates that young children are poor at predicting behaviors from past trait-relevant behaviors. We propose that the cognitive process of behavior-to-behavior predictions consists of two component processes: (1) behavior-to-trait…

  19. Plant functional traits in relation to fire in crown-fire ecosystems

    Science.gov (United States)

    Pausas, Juli G.; Bradstock, Ross A.; Keith, David A.; Keeley, Jon E.

    2004-01-01

    Disturbance is a dominant factor in many ecosystems, and the disturbance regime is likely to change over the next decades in response to land-use changes and global warming. We assume that predictions of vegetation dynamics can be made on the basis of a set of life-history traits that characterize the response of a species to disturbance. For crown-fire ecosystems, the main plant traits related to postfire persistence are the ability to resprout (persistence of individuals) and the ability to retain a persistent seed bank (persistence of populations). In this context, we asked (1) to what extent do different life-history traits co-occur with the ability to resprout and/or the ability to retain a persistent seed bank among differing ecosystems and (2) to what extent do combinations of fire-related traits (fire syndromes) change in a fire regime gradient? We explored these questions by reviewing the literature and analyzing databases compiled from different crown-fire ecosystems (mainly eastern Australia, California, and the Mediterranean basin). The review suggests that the pattern of correlation between the two basic postfire persistent traits and other plant traits varies between continents and ecosystems. From these results we predict, for instance, that not all resprouters respond in a similar way everywhere because the associated plant traits of resprouter species vary in different places. Thus, attempts to generalize predictions on the basis of the resprouting capacity may have limited power at a global scale. An example is presented for Australian heathlands. Considering the combination of persistence at individual (resprouting) and at population (seed bank) level, the predictive power at local scale was significantly increased.

  20. Genetics of personalities: no simple answers for complex traits.

    Science.gov (United States)

    Tschirren, Barbara; Bensch, Staffan

    2010-02-01

    Identifying the genes that underlie phenotypic variation in natural populations, and assessing the consequences of polymorphisms at these loci for individual fitness are major objectives in evolutionary biology. Yet, with the exception of a few success stories, little progress has been made, and our understanding of the link between genotype and phenotype is still in its infancy. For example, although body length in humans is largely genetically determined, with heritability estimates greater than 0.8, massive genome-wide association studies (GWAS) have only been able to account for a very small proportion of this variation (Gudbjartsson et al. 2008). If it is so difficult to explain the genetics behind relatively 'simple' traits, can we envision that it will at all be possible to find genes underlying complex behavioural traits in wild non-model organisms? Some notable examples suggest that this can indeed be a worthwhile endeavour. Recently, the circadian rhythm gene Clock has been associated with timing of breeding in a wild blue tit population (Johnsen et al. 2007; Liedvogel et al. 2009) and the Pgi gene to variation in dispersal and flight endurance in Glanville fritillary butterflies (Niitepold et al. 2009). A promising candidate gene for influencing complex animal personality traits, also known as behavioural syndromes (Sih et al. 2004), is the dopamine receptor D4 (DRD4) gene. Within the last decade, polymorphisms in this gene have been associated with variation in novelty seeking and exploration behaviour in a range of species, from humans to great tits (Schinka et al. 2002; Fidler et al. 2007). In this issue, Korsten et al. (2010) attempt to replicate this previously observed association in wild-living birds, and test for the generality of the association between DRD4 and personality across a number of European great tit populations.

  1. Paraneoplastic syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Weller, R.E.

    1994-03-01

    Paraneoplastic syndromes (PNS) comprise a diverse group of disorders that are associated with cancer but unrelated to the size, location, metastases, or physiologic activities of the mature tissue of origin. They are remote effects of tumors that may appear as signs, symptoms, or syndromes which can mimic other disease conditions encountered in veterinary medicine. Recognition of PNS is valuable for several reasons: the observed abnormalities may represent tumor cell markers and facilitate early diagnosis of the tumor; they may allow assessment of premalignant states; they may aid in the search metastases; they may help quantify and monitor response to therapy; and, they may provide insight into the study of malignant transformation and oncogene expression. This review will concentrate on the pathophysiology, diagnosis, and treatment of some of the common PNS encountered in veterinary medicine.

  2. Fluency Disorders in Genetic Syndromes

    Science.gov (United States)

    Van Borsel, John; Tetnowski, John A.

    2007-01-01

    The characteristics of various genetic syndromes have included "stuttering" as a primary symptom associated with that syndrome. Specifically, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Tourette syndrome, Neurofibromatosis type I, and Turner syndrome all list "stuttering" as a characteristic of that syndrome. An extensive review of…

  3. Hepatorenal syndrome

    Institute of Scientific and Technical Information of China (English)

    Sharon Turban; Paul J Thuluvath; Mohamed G Atta

    2007-01-01

    Hepatorenal syndrome (HRS) is a "functional" and reversible form of renal failure that occurs in patients with advanced chronic liver disease. The distinctive hallmark feature of HRS is the intense renal vasoconstriction caused by interactions between systemic and portal hemodynamics. This results in activation of vasoconstrictors and suppression of vasodilators in the renal circulation. Epidemiology, pathophysiology, as well as current and emerging therapies of HRS are discussed in this review.

  4. Marfan syndrome.

    OpenAIRE

    Jain, Eesha; Pandey, Ramesh Kumar

    1997-01-01

    Marfan syndrome is a rare autosomal dominant disorder of the connective tissue, with skeletal, ligamentous, orooculofacial, pulmonary, abdominal, neurological and the most fatal, cardiovascular manifestations. It has no cure but early diagnosis, regular monitoring and preventive lifestyle regimen ensure a good prognosis. However, the diagnosis can be difficult as it is essentially a clinical one, relying on family history, meticulous physical examination and investigation of involved organ sy...

  5. Waardenburg syndrome

    OpenAIRE

    Mehta, Manish; Kavadu, Paresh; Chougule, Sachin

    2004-01-01

    We report a case of Waardenburg syndrome in a female child aged 2yrs. Petrus Johannes Waardenburg(1) , a Dutch Ophthalmologist in 1951 described individuals with retinal pigmentary differences who had varying degrees of hearing loss and dystopia canthorum (i.e., latral displacement of inner canthi of eyes). The disease runs in families with a dominant inheritance pattern with varying degree of clinical presentation. Patient usually present with heterochromic iris, pigmentary abnormalities of ...

  6. Waardenburg syndrome

    OpenAIRE

    Tagra Sunita; Talwar Amrita; Walia Rattan Lal; Sidhu Puneet

    2006-01-01

    Waardenburg syndrome is a rare inherited and genetically heterogenous disorder of neural crest cell development. Four distinct subtypes showing marked interfamilial and intrafamilial variability have been described. We report a girl showing constellation of congenital hearing impairment with 110 dB and 105 dB loss in right and left ear respectively, hypoplastic blue iridis, white forelock, dystopia canthorum and broad nasal root. Other affected relatives of the family, with variable features ...

  7. Turner Syndrome

    OpenAIRE

    Akcan AB.

    2007-01-01

    Turner syndrome (TS) is a neurogenetic disorder characterized by partial or complete monosomy-X. TS is associated with certain physical and medical features including estrogen deficiency, short stature and increased risk for several diseases with cardiac conditions being among the most serious. Girls with TS are typically treated with growth hormone and estrogen replacement therapies to address short stature and estrogen deficiency. The cognitive-behavioral phenotype associated with TS includ...

  8. Robinow Syndrome

    OpenAIRE

    Gökhan Gökalp; Erdal Eren; Zeynep Yazıcı; Halil Sağlam

    2010-01-01

    Introduction: Robinow syndrome is characterized by dwarfism demonstrating short-limbed extremities, vertebral malsegmentation/malformation (hemivertebra), costal dysplasia, genital hypoplasia, and fetal facial appearance (wide and prominent forehead, hypertelorism, small and wide nose, molar hypoplasia, and retrognathia). It is a rare genetic disease which may present with either mild autosomal dominant form or severe recessive form. Vertebral and costal abnormalities are common diagnostic si...

  9. Apert's Syndrome

    OpenAIRE

    Kumar, Gudipaneni Ravi; Jyothsna, Mandapati; Ahmed, Syed Basheer; Sree Lakshmi, Ketham Reddy

    2014-01-01

    ABSTRACT Apert's syndrome (acrocephalosyndactyly) is a rare congenital disorder characterized by craniosynostosis, midfacial malforma­tion and symmetrical syndactyly of hands and feet. Craniofacial deformities include cone-shaped calvarium, fat forehead, prop-tosis, hypertelorism and short nose with a bulbous tip. Intraoral findings include high arched palate with pseudocleft, maxillary transverse and sagittal hypoplasia with concomitant dental crowding, skeletal and dental anterior open bite...

  10. Griscelli syndrome

    Directory of Open Access Journals (Sweden)

    Kumar T

    2006-01-01

    Full Text Available Partial albinism with immunodeficiency is a rare and fatal immunologic disorder characterized by pigmentary dilution and variable cellular immunodeficiency. It was initially described in 1978. Primary abnormalities included silvery grayish sheen to the hair, large pigment agglomerations in hair shafts and an abundance of mature melanosomes in melanocytes, with reduced pigmentation of adjacent keratinocytes. We describe a child with Griscelli syndrome who presented with hepatitis, pancytopenia and silvery hair. The diagnosis was confirmed by microscopic skin and hair examination.

  11. Asperger syndrome

    OpenAIRE

    Woodbury-Smith, Marc R.; Volkmar, Fred R.

    2008-01-01

    Abstract Asperger syndrome (AS) is a chronic neurodevelopmental disorder of social interaction, communication, and a restricted range of behaviors or interests. Although not generally associated with intellectual disability, the severe social disability and, in many cases, associated mental health and other medical problems, result in disability throughout life. The diagnosis is often delayed, sometimes into adulthood, which is unfortunate because there are now a range...

  12. [Fibromyalgia syndrome].

    Science.gov (United States)

    Naranjo Hernández, A; Rodríguez Lozano, C; Ojeda Bruno, S

    1992-02-01

    The Fibromialgia Syndrome (FS) is a common clinical entity which may produce symtoms and signs related to multiple fields of Medicine. Typical clinical characteristics of FS include extensive pain, presence of sensitive points during exploration, morning stiffness, asthenia and non-refresing sleep. Frequently, associated rheumatologic diseases are observed, as rheumatoid arthritis, osteoarthrosis and vertebral disorders. In FS, complementary tests are usually normal. The most widely accepted hypothesis suggests that this is a disorder affecting modulation of pain sensitivity.

  13. Reye syndrome - resources

    Science.gov (United States)

    Resources - Reye syndrome ... The following organizations are good resources for information on Reye Syndrome : National Reye's Syndrome Foundation, Inc. -- www.reyessyndrome.org National Institute of Neurologic Disorders and Stroke -- www. ...

  14. Narcotic Bowel Syndrome

    Science.gov (United States)

    ... Intolerance Malabsorption Narcotic Bowel Syndrome Radiation Therapy Injury Short Bowel Syndrome Symptoms & Causes Treatments Nutrition and Diet Managing Secondary Effects Medications Surgery Daily Living with SBS Resources SMA Syndrome Volvulus ...

  15. Iliotibial band syndrome - aftercare

    Science.gov (United States)

    IT band syndrome - aftercare; Iliotibial band friction syndrome - aftercare ... If you have iliotibial band syndrome you may notice: Mild pain on the outside of your knee when you begin to exercise, which goes ...

  16. Sexuality and Down Syndrome

    Science.gov (United States)

    ... NDSS Home » Resources » Wellness » Sexuality » Sexuality & Down Syndrome Sexuality & Down Syndrome Human sexuality encompasses an individual's self- ... community standards for adult behavior. How Can Healthy Sexuality be Encouraged for Individuals with Down Syndrome? Creating ...

  17. Central Pain Syndrome

    Science.gov (United States)

    ... Enhancing Diversity Find People About NINDS NINDS Central Pain Syndrome Information Page Table of Contents (click to ... being done? Clinical Trials Organizations What is Central Pain Syndrome? Central pain syndrome is a neurological condition ...

  18. Antiphospholipid syndrome

    Directory of Open Access Journals (Sweden)

    Pavlović Dragan M.

    2010-01-01

    Full Text Available Antiphospholipid syndrome (APS is an autoimmune disease with recurrent thromboses and pregnancy complications (90% are female patients that can be primary and secondary (with concomitant autoimmune disease. Antiphospholipid antibodies are prothrombotic but also act directly with brain tissue. One clinical and one laboratory criterion is necessary for the diagnosis of APS. Positive serological tests have to be confirmed after at least 12 weeks. Clinical picture consists of thromboses in many organs and spontaneous miscarriages, sometimes thrombocytopaenia and haemolytic anaemia, but neurological cases are the most frequent: headaches, stroke, encephalopathy, seizures, visual disturbances, Sneddon syndrome, dementia, vertigo, chorea, balism, transitory global amnesia, psychosis, transversal myelopathy and Guillain-Barre syndrome. About 50% of strokes below 50 years of age are caused by APS. The first line of therapy in stroke is anticoagulation: intravenous heparin or low-weight heparins. In chronic treatment, oral anticoagulation and antiplatelet therapy are used, warfarin and aspirin, mostly for life. In resistant cases, corticosteroids, intravenous immunoglobulins and plasmapheresis are necessary. Prognosis is good in most patients but some are treatment-resistant with recurrent thrombotic events and eventually death.

  19. CREST Syndrome

    Directory of Open Access Journals (Sweden)

    Tuğçe Köksüz

    2014-06-01

    Full Text Available We report a case of CREST syndrome (calsinosis cutis, Raynaud’s phenomenon, oesophageal dysmotility, sclerodactyly and telangiectasia with all of the five major symptoms. A 46-year-old woman was admitted to our clinic with the complaint of erythema, rigidity and pain on the plantar surface of the feet. She had had Raynaud’s phenomenon for 20 years and oesophageal reflux for five years. Her face had become masklike and there was prominent telangiectasies on her face and hands. Sclerosis were confined to the fingers (sclerodactyly. Direct X-ray graphy demonstrated calcinosis cutis on the left hand and suprapatellar region. She was treated with nifedipine 30 mg/day, acetylsalicylic acid 100 mg/day for Raynaud’s phenomenon and famotidine 40 mg/day, metoclopramide HCL 30 mg/day for oesophageal dysmotility. Her complaints were partially relieved after the treatment. This case had all of the five major symptoms of CREST syndrome, and we aimed to emphasize the major symptoms and complications of CREST syndrome. (Turk J Dermatol 2012; 6: 48-50

  20. TRY – a global database of plant traits

    DEFF Research Database (Denmark)

    Kattge, J.; Diaz, S.; Lavorel, S.;

    2011-01-01

    trait research community worldwide and gained an unprecedented buy‐in of trait data: so far 93 trait databases have been contributed. The data repository currently contains almost three million trait entries for 69 000 out of the world's 300 000 plant species, with a focus on 52 groups of traits...

  1. Patients with Gilles de la Tourette syndrome have widespread personality differences.

    Science.gov (United States)

    Trillini, Morounke O; Müller-Vahl, Kirsten R

    2015-08-30

    Only little is known about pathological personality traits in patients with Gilles de la Tourette syndrome (GTS). The aim of this study was to further investigate the prevalence of personality traits in adults with GTS. We used a variety of rating scales to assess not only personality traits, but also severity of tics, quality of life, and comorbidities (obsessive-compulsive disorder (OCD), attention deficit hyperactivity disorder (ADHD), depression), in a large group (n=50) of patients. Our major finding was that pathological personality traits are very common in patients with GTS encompassing a wide range of different personality traits, but most typically personality traits related to cluster C. Demand-anxious was the most common personality trait, while histrionic personality trait was absent. Patients' quality of life was more impaired by personality traits than comorbidities. Personality traits were more common in patients with comorbid OCD and depression, while comorbid ADHD had no influence. Our findings, therefore, corroborate the hypothesis that GTS plus OCD represents a more severe subtype of GTS, and support the assumption that OCD and depression, but not ADHD, are part of the GTS spectrum.

  2. Personality traits and energy conservation

    International Nuclear Information System (INIS)

    As a cost-effective solution to energy conservation, behavior based method focuses on changing people's behavior through normative feedback for energy efficiency. While the application of behavior-based method is promising, the challenge exists to achieve efficiently sustainable behavioral change. Based on multi-period observation of energy behavior at the Joint Base Andrews in Maryland, this paper presents a model-based approach aimed to improve the nationally popular and deep-seated benchmark setting strategy for normative feedback used in home energy reports. The improved approach has its merits of countering the undesirable boomerang effect and enhancing the effectiveness of normative feedback targeting different personalities. By introducing a modified opinion dynamics model, this paper simulates the process of energy behavior change and therefore identifies the driver and elementary rules of behavioral change. In particular, the paper defines various behavioral zones in accordance with people's personality and proposes a new customized energy reporting mechanism that maps normative benchmark to personality trait. The new energy reporting policy has strong industrial implication for promoting behavior-based method towards a sustained energy conservation movement. -- Highlights: •We explore the personality driving resident behavior change under peer pressure. •We map the distribution of behavior clusters driven by personality and benchmarks. •The model is tested using data from an experiment conducted in Maryland, U.S. •The population exposed to normative feedback can be divided into six categories. •A personality trait-based home energy reporting mechanism is proposed

  3. PHENOTYPIC TRAITS IN ZAGORJE TURKEY

    Directory of Open Access Journals (Sweden)

    Z. Janječić

    2007-06-01

    Full Text Available Production of turkeys in the region of Hrvatsko zagorje began in second half of 16th century, when there was a little influence of other turkey breeds from other region. Recently, interest for protection and preservation of autochthonous poultry breeds in Croatia is growing and in that sense this investigation was set to determine the phenotypic traits of Zagorje turkey. One hundred 10-month old turkeys (5 males and 20 females of four strains (bronze, black, grey and pale were measured, while egg production data were collected by a poll among the breeders. Average body weight of bronze, black, grey and pale strain males were 7.08, 6.88, 6.10 and 6.09 kg, respectively, while in females the average values were 4.02, 4.07, 3.63, and 3.68 kg. Generally, according to body measures of male birds, other than body weight, of all of the strains of Zagorje turkey, the black one is the biggest, as it had the highest values for body length, length of sternum, length of drumstick, length of shank, depth of chest and head measures. At the same time, the bronze strain had the highest value for carcass width. Body measures mentioned previously were not so different in females. Number of reared chicks was lowest in the pale strain. From the body measures assessed it is possible to conclude that Zagorje turkeys are rather uniform within the strain but differences in most of the breed traits are present between the strains, especially in males of bronze and black strain, when compared to gray and pale strain.

  4. Sickle Cell Trait and the Athlete

    Institute of Scientific and Technical Information of China (English)

    E.Randy Eichner

    2007-01-01

    @@ KEY POINTS ·Sickle cell trait is an inherited condition of the oxygencarrying protein,hemoglobin,in red blood cells.This genetic trait is generally benign,but during maximal exercise,the oxygen levels in muscles can decrease sufficiently to cause some of the red cells to change from the normal disk shape to a crescent or sickle shape.

  5. Personal traits as predictor of job satisfaction

    OpenAIRE

    Petrushikhina Elena Borisovna

    2013-01-01

    The article is devoted to problem of association between job satisfaction and personal traits. The Five-Factor model is well-founded for predicting job satisfaction. Correlation analysis indicates high influence of Neuroticism, Extraversion, Agreeableness, Conscientiousness on job satisfaction. NEO-PI-R is recommended for measuring of personal traits in human resource management.

  6. Personal traits as predictor of job satisfaction

    Directory of Open Access Journals (Sweden)

    Petrushikhina Elena Borisovna

    2013-09-01

    Full Text Available The article is devoted to problem of association between job satisfaction and personal traits. The Five-Factor model is well-founded for predicting job satisfaction. Correlation analysis indicates high influence of Neuroticism, Extraversion, Agreeableness, Conscientiousness on job satisfaction. NEO-PI-R is recommended for measuring of personal traits in human resource management.

  7. Inherited ichthyosis: Syndromic forms.

    Science.gov (United States)

    Yoneda, Kozo

    2016-03-01

    Among diseases that cause ichthyosis as one of the symptoms, there are some diseases that induce abnormalities in organs other than the skin. Of these, diseases with characteristic signs are regarded as syndromes. Although these syndromes are very rare, Netherton syndrome, Sjögren-Larsson syndrome, Conradi-Hünermann-Happle syndrome, Dorfman-Chanarin syndrome, ichthyosis follicularis, atrichia and photophobia (IFAP) syndrome, and Refsum syndrome have been described in texts as representative ones. It is important to know the molecular genetics and pathomechanisms in order to establish an effective therapy and beneficial genetic counseling including a prenatal diagnosis.

  8. Trait-based approaches to zooplankton communities

    DEFF Research Database (Denmark)

    Lichtman, E.; Ohman, M.D.; Kiørboe, Thomas

    2013-01-01

    Zooplankton are major primary consumers and predators in most aquatic ecosystems. They exhibit tremendous diversity of traits, ecological strategies and, consequently, impacts on other trophic levels and the cycling of materials and energy. An adequate representation of this diversity in community...... and ecosystem models is necessary to generate realistic predictions on the functioning of aquatic ecosystems but remains extremely challenging. We propose that the use of trait-based approaches is a promising way to reduce complexity while retaining realism in developing novel descriptions of zooplankton...... traits, such as body size and motility, transcend several functions and are major determinants of zooplankton ecological strategies. Future developments of trait-based approaches to zooplankton should assemble a comprehensive matrix of key traits for diverse groups and explore it for general patterns...

  9. Cultural traits as units of analysis.

    Science.gov (United States)

    O'Brien, Michael J; Lyman, R Lee; Mesoudi, Alex; VanPool, Todd L

    2010-12-12

    Cultural traits have long been used in anthropology as units of transmission that ostensibly reflect behavioural characteristics of the individuals or groups exhibiting the traits. After they are transmitted, cultural traits serve as units of replication in that they can be modified as part of an individual's cultural repertoire through processes such as recombination, loss or partial alteration within an individual's mind. Cultural traits are analogous to genes in that organisms replicate them, but they are also replicators in their own right. No one has ever seen a unit of transmission, either behavioural or genetic, although we can observe the effects of transmission. Fortunately, such units are manifest in artefacts, features and other components of the archaeological record, and they serve as proxies for studying the transmission (and modification) of cultural traits, provided there is analytical clarity over how to define and measure the units that underlie this inheritance process.

  10. Towards an evolutionary ecology of sexual traits.

    Science.gov (United States)

    Cornwallis, Charlie K; Uller, Tobias

    2010-03-01

    Empirical studies of sexual traits continue to generate conflicting results, leading to a growing awareness that the current understanding of this topic is limited. Here we argue that this is because studies of sexual traits fail to encompass three important features of evolution. First, sexual traits evolve via natural selection of which sexual selection is just one part. Second, selection on sexual traits fluctuates in strength, direction and form due to spatial and temporal environmental heterogeneity. Third, phenotypic plasticity is ubiquitous and generates selection and responses to selection within and across generations. A move from purely gene-focused theories of sexual selection towards research that explicitly integrates development, ecology and evolution is necessary to break the stasis in research on sexual traits.

  11. Dynamic genetic architecture of metabolic syndrome attributes in the rat.

    Science.gov (United States)

    Seda, Ondrej; Liska, Frantisek; Krenova, Drahomira; Kazdova, Ludmila; Sedova, Lucie; Zima, Tomas; Peng, Junzheng; Pelinkova, Kveta; Tremblay, Johanne; Hamet, Pavel; Kren, Vladimir

    2005-04-14

    The polydactylous rat strain (PD/Cub) is a highly inbred (F > 90) genetic model of metabolic syndrome. The aim of this study was to analyze the genetic architecture of the metabolic derangements found in the PD/Cub strain and to assess its dynamics in time and in response to diet and medication. We derived a PD/Cub x BN/Cub (Brown Norway) F2 intercross population of 149 male rats and performed metabolic profiling and genotyping and multiple levels of genetic linkage and statistical analyses at five different stages of ontogenesis and after high-sucrose diet feeding and dexamethasone administration challenges. The interval mapping analysis of 83 metabolic and morphometric traits revealed over 50 regions genomewide with significant or suggestive linkage to one or more of the traits in the segregating PD/Cub x BN/Cub population. The multiple interval mapping showed that, in addition to "single" quantitative train loci, there are more than 30 pairs of loci across the whole genome significantly influencing the variation of particular traits in an epistatic fashion. This study represents the first whole genome analysis of metabolic syndrome in the PD/Cub model and reveals several new loci previously not connected to the genetics of insulin resistance and dyslipidemia. In addition, it attempts to present the concept of "dynamic genetic architecture" of metabolic syndrome attributes, evidenced by shifts in the genetic determination of syndrome features during ontogenesis and during adaptation to the dietary and pharmacological influences.

  12. Genetic architecture of pollination syndrome transition between hummingbird-specialist and generalist species in the genus Rhytidophyllum (Gesneriaceae

    Directory of Open Access Journals (Sweden)

    Hermine Alexandre

    2015-06-01

    Full Text Available Adaptation to pollinators is a key factor of diversification in angiosperms. The Caribbean sister genera Rhytidophyllum and Gesneria present an important diversification of floral characters. Most of their species can be divided in two major pollination syndromes. Large-open flowers with pale colours and great amount of nectar represent the generalist syndrome, while the hummingbird-specialist syndrome corresponds to red tubular flowers with a less important nectar volume. Repeated convergent evolution toward the generalist syndrome in this group suggests that such transitions rely on few genes of moderate to large effect. To test this hypothesis, we built a linkage map and performed a QTL detection for divergent pollination syndrome traits by crossing one specimen of the generalist species Rhytidophyllum auriculatum with one specimen of the hummingbird pollinated R. rupincola. Using geometric morphometrics and univariate traits measurements, we found that floral shape among the second-generation hybrids is correlated with morphological variation observed between generalist and hummingbird-specialist species at the genus level. The QTL analysis showed that colour and nectar volume variation between syndromes involve each one major QTL while floral shape has a more complex genetic basis and rely on few genes of moderate effect. Finally, we did not detect any genetic linkage between the QTLs underlying those traits. This genetic independence of traits could have facilitated evolution toward optimal syndromes.

  13. Association of anxiety with intracortical inhibition and descending pain modulation in chronic myofascial pain syndrome

    OpenAIRE

    Vidor, Liliane Pinto; Torres, Iraci LS; Medeiros, Liciane Fernandes; Dussán-Sarria, Jairo Alberto; Dall’Agnol, Letizzia; Deitos, Alicia; Brietzke, Aline; Laste, Gabriela; Joanna R Rozisky; Fregni, Felipe; Caumo, Wolnei

    2014-01-01

    Background: This study aimed to answer three questions related to chronic myofascial pain syndrome (MPS): 1) Is the motor cortex excitability, as assessed by transcranial magnetic stimulation parameters (TMS), related to state-trait anxiety? 2) Does anxiety modulate corticospinal excitability changes after evoked pain by Quantitative Sensory Testing (QST)? 3) Does the state-trait anxiety predict the response to pain evoked by QST if simultaneously receiving a heterotopic stimulus [Conditional...

  14. Morvan Syndrome

    Science.gov (United States)

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

    2016-01-01

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

  15. Hepatorenal syndrome

    Institute of Scientific and Technical Information of China (English)

    Jan Lata

    2012-01-01

    Hepatorenal syndrome (HRS) is defined as a functional renal failure in patients with liver disease with portal hypertension and it constitutes the climax of systemic circulatory changes associated with portal hypertension.This term refers to a precisely specified syndrome featuring in particular morphologically intact kidneys,where regulatory mechanisms have minimised glomerular filtration and maximised tubular resorption and urine concentration,which ultimately results in uraemia.The syndrome occurs almost exclusively in patients with ascites.Type 1 HRS develops as a consequence of a severe reduction of effective circulating volume due to both an extreme splanchnic arterial vasodilatation and a reduction of cardiac output.Type 2 HRS is characterised by a stable or slowly progressive renal failure so that its main clinical consequence is not acute renal failure,but refractory ascites,and its impact on prognosis is less negative.Liver transplantation is the most appropriate therapeutic method,nevertheless,only a few patients can receive it.The most suitable "bridge treatments" or treatment for patients ineligible for a liver transplant include terlipressin plus albumin.Terlipressin is at an initial dose of 0.5-1 mg every 4 h by intravenous bolus to 3 mg every 4 h in cases when there is no response.Renal function recovery can be achieved in less than 50% of patients and a considerable decrease in renal function may reoccur even in patients who have been responding to therapy over the short term.Transjugular intrahepatic portosystemic shunt plays only a marginal role in the treatment of HRS.

  16. Predictors of leadership: The usual suspects and the suspect traits

    OpenAIRE

    Antonakis J.; Bryman A. (ed.); Collinson D. (ed.); Grint K. (ed.); Jackson B. (ed.); Uhl-Bien M. (ed.)

    2011-01-01

    In this chapter, I review literature on traits (i.e., individual differences) and their links to leader outcomes. I present an integrated model, the ascription-actuality trait theory, to explain two routes to leader outcomes that stem from traits: the route that objectively matters and the route that appears to matter but objectively may not. I discuss the history of trait research and provide criteria by which we should judge the validity of trait models. Finally, I review trait models that ...

  17. Rett Syndrome

    OpenAIRE

    Sitholey, Prabhat; Agarwal, Vivek; Srivastava, Rohit

    2012-01-01

    Rett syndrome is one of the most common causes of complex disability in girls. It is characterized by early neurological regression that severely affects motor, cognitive and communication skills, by autonomic dysfunction and often a seizure disorder. It is a monogenic X-linked dominant neurodevelopmental disorder related to mutation in MECP2, which encodes the methyl-CpG-binding protein MeCP2. There are several mouse models either based on conditional knocking out of the Mecp2 gene or on a t...

  18. [Ascher's syndrome].

    Science.gov (United States)

    Halling, F; Sandrock, D; Merten, H A; Hönig, J F

    1991-01-01

    Ascher's syndrome is composed of the triad blepharochalasis, double lip and goitre. In many of the cases reported in the literature this typical constellation of symptoms is not complete; particularly the struma is not mandatorily involved. A 58-year-old patient with this rare disease who exhibited blepharochalasis and double upper and lower lip is presented. Additionally, subclinical hypothyroidism and alopecia areata totalis were found. In differential diagnosis other causes of double lips or enlargement of the lips must be considered. PMID:1817784

  19. [Piriformis syndrome].

    Science.gov (United States)

    Erauso, Thomas; Pégorie, Anne; Gaveau, Yves-Marie; Tardy, Dominique

    2010-09-20

    Sciatic pain is often misleading and establishing the link with a local muscular cause can be difficult and lead to errors, especially when faced with a young sportsman, with typical discogenic pain. Simple, specific and reproducible tests enable a better identification and treatment of a muscular cause or canal syndrome. Physiotherapy, or local infiltrations are generally very efficient, and sufficient. Surgery may be considered only in a very limited number of cases, lack of response to the first line treatment and then only if it is the absolute diagnosis, diagnosis which must remain a diagnosis of exception, more so of exclusion. PMID:21033479

  20. Griscelli syndrome.

    Science.gov (United States)

    Ariffin, H; Geikowski, A; Chin, T F; Chau, D; Arshad, A; Abu Bakar, K; Krishnan, S

    2014-08-01

    We report a case of Griscelli Syndrome (GS). Our patient initially presented with a diagnosis of haemophagocytic lymphistiocytosis (HLH). Subsequent microscopic analysis of the patient's hair follicle revealed abnormal distribution of melanosomes in the shaft, which is a hallmark for GS. Analysis of RAB27A gene in this patient revealed a homozygous mutation in exon 6, c.550C>T, p.R184X . This nonsense mutation causes premature truncation of the protein resulting in a dysfunctional RAB27A. Recognition of GS allows appropriate institution of therapy namely chemotherapy for HLH and curative haemotopoeitic stem cell transplantation. PMID:25500851

  1. Olmsted Syndrome

    Directory of Open Access Journals (Sweden)

    Sirka C

    1999-01-01

    Full Text Available A 20-year-old Sikh man had palmoplantar keratoderma, flexion deformity of digits, universal alopecia, keratotic plaques at the angles of mouth, gluteal cleft, knees and dorsal aspects of the metacarpophalangeal joints of the hand; features of Olmsted syndrome. He had normal nails, teeth, oral mucosa and normal joint movements. Treatment with acitretin, 25mg/day for three and a half months, followed by 25mg once daily alternating with 50mg once daily for 3 months resulted in significant improvement.

  2. Jacobsen syndrome

    Directory of Open Access Journals (Sweden)

    Grossfeld Paul

    2009-03-01

    Full Text Available Abstract Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears. Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from ~7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be

  3. CREST Syndrome

    OpenAIRE

    Tuğçe Köksüz; Zeynep Nurhan Saraçoğlu; Ayşe Esra Koku-Aksu; İlham Sabuncu; Cengiz Korkmaz

    2014-01-01

    We report a case of CREST syndrome (calsinosis cutis, Raynaud’s phenomenon, oesophageal dysmotility, sclerodactyly and telangiectasia) with all of the five major symptoms. A 46-year-old woman was admitted to our clinic with the complaint of erythema, rigidity and pain on the plantar surface of the feet. She had had Raynaud’s phenomenon for 20 years and oesophageal reflux for five years. Her face had become masklike and there was prominent telangiectasies on her face and hands. Sclerosis were ...

  4. Refeeding syndrome.

    Science.gov (United States)

    Fuentebella, Judy; Kerner, John A

    2009-10-01

    Refeeding syndrome (RFS) is the result of aggressive enteral or parenteral feeding in a malnourished patient, with hypophosphatemia being the hallmark of this phenomenon. Other metabolic abnormalities, such as hypokalemia and hypomagnesemia, may also occur, along with sodium and fluid retention. The metabolic changes that occur in RFS can be severe enough to cause cardiorespiratory failure and death. This article reviews the pathophysiology, the clinical manifestations, and the management of RFS. The key to prevention is identifying patients at risk and being aware of the potential complications involved in rapidly reintroducing feeds to a malnourished patient.

  5. Myofascial syndrome

    Directory of Open Access Journals (Sweden)

    Giancarlo Carli

    2008-12-01

    Full Text Available Myofascial pain syndrome is common cause one of musculoskeletal pain and it is characterized by trigger points (TP, limited range of motion in joints and local twitch response (LTR during mechanical stimulation of the TP. Trigger point is a hyperirritable spot in skeletal muscle that is associated with a hypersensitive palpable nodule in a taut band. The spot is tender when pressed and can give rise to characteristic referred pain, motor dysfunction and autonomic phenomena. Palpation is reliable diagnostic criterion for locating TP in patients. Treatment is based on anesthetise TP, stretch and spray, local pression and physical activity.

  6. OCULO-CEREBRO-RENAL SYNDROME (LOWE'S SYNDROME)

    Institute of Scientific and Technical Information of China (English)

    1991-01-01

    Oculo-cerebro-renal syndrome (Lowe's syndrome) is characterized by mental and motor retardation, cataract, glaucoma and renal abnormalities. It is an X-linked recessive metabolic disease. Two brothers suffering from Lowe's syndrome are reported. Their mother with lenticular opacities and peculiar facial appearance is in concordance with the obligate carrier. The ocular changes and heridity are discussed.

  7. REPRODUCTIVE TRAITS SELECTION IN NELORE BEEF CATTLE

    Directory of Open Access Journals (Sweden)

    Heverton Luis Moreira

    2015-08-01

    Full Text Available Genetic breeding programs of beef cattle in Brazil are including new features, mainly related to reproductive efficiency.Thus, it is necessary to study the effectiveness of selection and quantify genetic gain for these traits in herds. This study estimated genetic and phenotypic parameters and genetic trends for reproductive traits used in breeding programs for Nelore beef cattle. The traits studied were the scrotal circumference (SC at 365 and 450 days of age (SC365 and SC450, age at first calving (AFC and gestation length, as a cow trait (GLcow and a calf trait (GLcalf. The (covariance components were obtained with the Restricted Maximum Likelihood Methodology in a single and double-trait analysis of the animal model. For scrotal circumference (SC365 and SC450, positive and favorable genetic gains were observed. For AFC, GLcow and GLcalf, the trends were favorable for selection, but without significant genetic gain. Selection for large SC may reduce AFC and improve female reproductive efficiency. The selection for reproductive traits (SC365, SC450, AFC and GL may improve reproductive and productive efficiency of Nelore cattle, if used as a selection criterion.

  8. Assessing the Utility of Compound Trait Estimates of Narrow Personality Traits.

    Science.gov (United States)

    Credé, Marcus; Harms, Peter D; Blacksmith, Nikki; Wood, Dustin

    2016-01-01

    It has been argued that approximations of narrow traits can be made through linear combinations of broad traits such as the Big Five personality traits. Indeed, Hough and Ones ( 2001 ) used a qualitative analysis of scale content to arrive at a taxonomy of how Big Five traits might be combined to approximate various narrow traits. However, the utility of such compound trait approximations has yet to be established beyond specific cases such as integrity and customer service orientation. Using data from the Eugene-Springfield Community Sample (Goldberg, 2008 ), we explore the ability of linear composites of scores on Big Five traits to approximate scores on 127 narrow trait measures from 5 well-known non-Big-Five omnibus measures of personality. Our findings indicate that individuals' standing on more than 30 narrow traits can be well estimated from 3 different types of linear composites of scores on Big Five traits without a substantial sacrifice in criterion validity. We discuss theoretical accounts for why such relationships exist as well as the theoretical and practical implications of these findings for researchers and practitioners. PMID:27153207

  9. KBG syndrome

    Directory of Open Access Journals (Sweden)

    Brancati Francesco

    2006-12-01

    Full Text Available Abstract KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral anomalies and developmental delay. To date, KBG syndrome has been reported in 45 patients. Clinical features observed in more than half of patients that may support the diagnosis are short stature, electroencephalogram (EEG anomalies (with or without seizures and abnormal hair implantation. Cutaneous syndactyly, webbed short neck, cryptorchidism, hearing loss, palatal defects, strabismus and congenital heart defects are less common findings. Autosomal dominant transmission has been observed in some families, and it is predominantly the mother, often showing a milder clinical picture, that transmits the disease. The diagnosis is currently based solely on clinical findings as the aetiology is unknown. The final diagnosis is generally achieved after the eruption of upper permanent central incisors at 7–8 years of age when the management of possible congenital anomalies should have been already planned. A full developmental assessment should be done at diagnosis and, if delays are noted, an infant stimulation program should be initiated. Subsequent management and follow-up should include an EEG, complete orthodontic evaluation, skeletal investigation with particular regard to spine curvatures and limb asymmetry, hearing testing and ophthalmologic assessment.

  10. Myasthenic syndromes.

    Science.gov (United States)

    Farrugia, M E

    2011-03-01

    The neuromuscular junction is vulnerable to autoimmune attack both at the pre-synaptic nerve terminal and at the post-synaptic muscle membrane. Antibodies directed to the nicotinic acetylcholine receptor at the muscle surface are the cause of myasthenia gravis in the majority of cases. Myasthenia gravis is an acquired condition, characterised by weakness and fatigability of the skeletal muscles. The ocular muscles are commonly affected first, but the disease often generalises. Treatment includes symptom control and immunosuppression. The thymus gland plays an important role in the pathogenesis of myasthenia gravis and thymectomy is indicated in certain subgroups. Lambert-Eaton myasthenic syndrome is associated with antibodies directed to the voltage-gated calcium channel antibodies at the pre-synaptic nerve terminal. It is an acquired condition and, in some cases, may be paraneoplastic, often secondary to underlying small cell lung carcinoma. Clinical presentation is distinct from myasthenia gravis, with patients often first presenting with lower limb muscle fatigability and autonomic symptoms. Congenital myasthenic syndromes are inherited neuromuscular disorders due to mutations in proteins at the neuromuscular junction. Various phenotypes exist depending on the protein mutation. Treatment is directed towards symptom control and immunosuppression is not indicated. PMID:21365067

  11. Sotos syndrome

    Directory of Open Access Journals (Sweden)

    Cormier-Daire Valérie

    2007-09-01

    Full Text Available Abstract Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported. The diagnosis is usually suspected after birth because of excessive height and occipitofrontal circumference (OFC, advanced bone age, neonatal complications including hypotonia and feeding difficulties, and facial gestalt. Other inconstant clinical abnormalities include scoliosis, cardiac and genitourinary anomalies, seizures and brisk deep tendon reflexes. Variable delays in cognitive and motor development are also observed. The syndrome may also be associated with an increased risk of tumors. Mutations and deletions of the NSD1 gene (located at chromosome 5q35 and coding for a histone methyltransferase implicated in transcriptional regulation are responsible for more than 75% of cases. FISH analysis, MLPA or multiplex quantitative PCR allow the detection of total/partial NSD1 deletions, and direct sequencing allows detection of NSD1 mutations. The large majority of NSD1 abnormalities occur de novo and there are very few familial cases. Although most cases are sporadic, several reports of autosomal dominant inheritance have been described. Germline mosaicism has never been reported and the recurrence risk for normal parents is very low (

  12. Marfan Syndrome (For Parents)

    Science.gov (United States)

    ... Tropical Delight: Melon Smoothie Pregnant? Your Baby's Growth Marfan Syndrome KidsHealth > For Parents > Marfan Syndrome Print A ... the Doctor en español Síndrome de Marfan About Marfan Syndrome Marfan syndrome is a progressive genetic disorder ...

  13. Beyond traits: personality as intersubjective themes.

    Science.gov (United States)

    McWilliams, Nancy

    2012-01-01

    The author argues that research in the idiographic tradition is more conducive to effective clinical work than the uncritical adoption of specific "evidence-based therapies" for discrete symptomatic disorders. She views pressures on therapists to adopt evidence-based therapies without consideration of individual differences and personal subjectivity as the misapplication of a research paradigm to the clinical situation. Reviewing some recent empirical work on individuality and therapeutic process, she critiques efforts to formulate personality diagnosis on the basis of externally observable traits without attention to internal experience, and she contends that intrapsychic themes account for personality differences more powerfully than traits, even when traits are construed dimensionally.

  14. Hamartomatous polyposis syndromes

    DEFF Research Database (Denmark)

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

    2014-01-01

    -intestinal symptoms and types of cancers differs.Clinical awareness and early diagnosis of HPS is important, as affected patients and at-risk family members should be offered genetic counselling and surveillance. Surveillance in children with HPS might prevent or detect intestinal or extra-intestinal complications......Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as......-intestinal cancer. The syndromes are rare and inherited in an autosomal dominant manner.The diagnosis of HPS has traditionally been based on clinical criteria, but can sometimes be difficult as the severity of symptoms range considerably from only a few symptoms to very severe cases - even within the same family...

  15. The Molecular Genetics of Restless Legs Syndrome.

    Science.gov (United States)

    Rye, David B

    2015-09-01

    Restless legs syndrome (RLS) is a common sensorimotor trait defined by symptoms that interfere with sleep onset and maintenance in a clinically meaningful way. Nonvolitional myoclonus while awake and asleep is a sign of the disorder and an informative endophenotype. The genetic contributions to RLS/periodic leg movements are substantial, are among the most robust defined to date for a common disease, and account for much of the variance in disease expressivity. The disorder is polygenic, as revealed by recent genome-wide association studies. Experimental studies are revealing mechanistic details of how these common variants might influence RLS expressivity.

  16. Familial skin cancer syndromes: Increased melanoma risk.

    Science.gov (United States)

    Ransohoff, Katherine J; Jaju, Prajakta D; Jaju, Prajaka D; Tang, Jean Y; Carbone, Michele; Leachman, Sancy; Sarin, Kavita Y

    2016-03-01

    Phenotypic traits, such as red hair and freckling, increase melanoma risk by 2- to 3-fold. In addition, approximately 10% of melanomas are caused by inherited germline mutations that increase melanoma risk from 4- to >1000-fold. This review highlights the key genes responsible for inherited melanoma, with an emphasis on when a patient should undergo genetic testing. Many genetic syndromes associated with increased melanoma risk are also associated with an increased risk of other cancers. Identification of these high-risk patients is essential for preventive behavior reinforcement, genetic counseling, and ensuring other required cancer screenings.

  17. Leopard syndrome

    Directory of Open Access Journals (Sweden)

    Dallapiccola Bruno

    2008-05-01

    Full Text Available Abstract LEOPARD syndrome (LS, OMIM 151100 is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. LEOPARD is an acronym for the major features of this disorder, including multiple Lentigines, ECG conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, and sensorineural Deafness. About 200 patients have been reported worldwide but the real incidence of LS has not been assessed. Facial dysmorphism includes ocular hypertelorism, palpebral ptosis and low-set ears. Stature is usually below the 25th centile. Cardiac defects, in particular hypertrophic cardiomyopathy mostly involving the left ventricle, and ECG anomalies are common. The lentigines may be congenital, although more frequently manifest by the age of 4–5 years and increase throughout puberty. Additional common features are café-au-lait spots (CLS, chest anomalies, cryptorchidism, delayed puberty, hypotonia, mild developmental delay, sensorineural deafness and learning difficulties. In about 85% of the cases, a heterozygous missense mutation is detected in exons 7, 12 or 13 of the PTPN11 gene. Recently, missense mutations in the RAF1 gene have been found in two out of six PTPN11-negative LS patients. Mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. LS is largely overlapping Noonan syndrome and, during childhood, Neurofibromatosis type 1-Noonan syndrome. Diagnostic clues of LS are multiple lentigines and CLS, hypertrophic cardiomyopathy and deafness. Mutation-based differential diagnosis in patients with borderline clinical manifestations is warranted. LS is an autosomal dominant condition, with full penetrance and variable expressivity. If one parent is affected, a 50% recurrence risk is appropriate. LS should be suspected in foetuses with severe cardiac hypertrophy and prenatal DNA test may be performed. Clinical management should

  18. [Vascular Ehlers-Danlos syndrome].

    Science.gov (United States)

    Frank, Michael

    2009-04-20

    Vascular type Ehlers-Danlos syndrome (EDS) is a rare inherited disease with an autosomal dominant trait. The mutation of the COL3A1 gene which encodes type III collagen, is responsible of early vascular (spontaneous arterial rupture or dissection), digestive (perforation) and obstetrical events (uterine and arterial rupture). Diagnosis of the disease is primarily clinical, especially in case of characteristic morphologic features. Diagnostic certainty is obtained by evidencing the mutation of the COL3A1 gene. Some arterial lesions are suggestive of the disease, as dissecting aneurysms of the internal carotid, of the iliac arteries, and of the anterior visceral aortic branches, fusiform aneurisms of the splenic artery, and the occurrence of a non traumatic direct carotid-cavernous fistula. The occurrence of a spontaneous peritonitis or of an extensive perineal tear after delivery should also draw physician's attention. Because of the unpredictability of arterial or organ rupture, any patient diagnosed with vascular type EDS presenting with an acute pain syndrome should be considered as a trauma situation and be investigated straightaway by CT-scan or MRI testing, in order to eliminate a life threatening complication. PMID:19462862

  19. Skin Biopsy for the diagnosis of Alport Syndrome

    OpenAIRE

    Lagona, E; Tsartsali, L; Kostaridou, S; Skiathitou, A; Georgaki, E; Sotsiou, F

    2008-01-01

    Alport syndrome (AS) is the most common hereditary nephritis often associated with extrarenal manifestations. It was first described by Alport on 1927. There is a primary disorder in collagen type IV which is the main component of the basement membranes. Alport syndrome is more frequently inherited as an X-linked and less commonly as an autosomal dominant or autosomal recessive trait. We describe the case of a 3-year-old boy with the X-linked variant of AS. The diagnosis was at first speculat...

  20. Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome

    DEFF Research Database (Denmark)

    Husu, E; Hove, Hd; Farholt, Stense;

    2013-01-01

    ) syndrome is a rare genetic, multiple-malformation syndrome. About 80% of patients with a clinical diagnose, have a mutation or a deletion in the gene encoding chromodomain helicase DNA-binding protein 7 (CHD7). Genotype-phenotype correlation is only partly known. In this nationwide study, phenotypic...... characteristics of 18 Danish CHD7 mutation positive CHARGE individuals (N = 18) are presented. We studied patient records, clinical photographs, computed tomography, and magnetic resonance imaging (MRI). Information was not available for all traits in all subjects. Therefore, the results are presented as...

  1. Linkage Analysis in Familial Non-Lynch Syndrome Colorectal Cancer Families from Sweden

    OpenAIRE

    Vinaykumar Kontham; Susanna von Holst; Annika Lindblom

    2013-01-01

    Family history is a major risk factor for colorectal cancer and many families segregate the disease as a seemingly monogenic trait. A minority of familial colorectal cancer could be explained by known monogenic genes and genetic loci. Familial polyposis and Lynch syndrome are two syndromes where the predisposing genes are known but numerous families have been tested without finding the predisposing gene. We performed a genome wide linkage analysis in 121 colorectal families with an increased ...

  2. A Genome-Wide Association Study of the Metabolic Syndrome in Indian Asian Men

    OpenAIRE

    Zabaneh, Delilah; Balding, David J.

    2010-01-01

    We conducted a two-stage genome-wide association study to identify common genetic variation altering risk of the metabolic syndrome and related phenotypes in Indian Asian men, who have a high prevalence of these conditions. In Stage 1, approximately 317,000 single nucleotide polymorphisms were genotyped in 2700 individuals, from which 1500 SNPs were selected to be genotyped in a further 2300 individuals. Selection for inclusion in Stage 1 was based on four metabolic syndrome component traits:...

  3. Phenotypic, genetic, and genome-wide structure in the metabolic syndrome

    OpenAIRE

    Comuzzie Anthony G; Blangero John; Dyer Tom; North Kari E; Martin Lisa J; Williams Jeff

    2003-01-01

    Abstract Background Insulin resistance, obesity, dyslipidemia, and high blood pressure characterize the metabolic syndrome. In an effort to explore the utility of different multivariate methods of data reduction to better understand the genetic influences on the aggregation of metabolic syndrome phenotypes, we calculated phenotypic, genetic, and genome-wide LOD score correlation matrices using five traits (total cholesterol, high density lipoprotein cholesterol, triglycerides, systolic blood ...

  4. Metabolic Syndrome: Polycystic Ovary Syndrome.

    Science.gov (United States)

    Mortada, Rami; Williams, Tracy

    2015-08-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous condition characterized by androgen excess, ovulatory dysfunction, and polycystic ovaries. It is the most common endocrinopathy among women of reproductive age, affecting between 6.5% and 8% of women, and is the most common cause of infertility. Insulin resistance is almost always present in women with PCOS, regardless of weight, and they often develop diabetes and metabolic syndrome. The Rotterdam criteria are widely used for diagnosis. These criteria require that patients have at least two of the following conditions: hyperandrogenism, ovulatory dysfunction, and polycystic ovaries. The diagnosis of PCOS also requires exclusion of other potential etiologies of hyperandrogenism and ovulatory dysfunction. The approach to PCOS management differs according to the presenting symptoms and treatment goals, particularly the patient's desire for pregnancy. Weight loss through dietary modifications and exercise is recommended for patients with PCOS who are overweight. Oral contraceptives are the first-line treatment for regulating menstrual cycles and reducing manifestations of hyperandrogenism, such as acne and hirsutism. Clomiphene is the first-line drug for management of anovulatory infertility. Metformin is recommended for metabolic abnormalities such as prediabetes, and a statin should be prescribed for cardioprotection if the patient meets standard criteria for statin therapy. PMID:26280343

  5. Trait emotional intelligence and inflammatory diseases.

    Science.gov (United States)

    Costa, Sebastiano; Petrides, K V; Tillmann, Taavi

    2014-01-01

    Researchers have become increasingly interested in the psychological aspects of inflammatory disorders. Within this line of research, the present study compares the trait emotional intelligence (trait EI) profiles of 827 individuals with various inflammatory conditions (rheumatoid arthritis [RA], ankylosing spondylitis, multiple sclerosis, and RA plus one comorbidity) against 496 healthy controls. Global trait EI scores did not show significant differences between these groups, although some differences were observed when comparisons were carried out against alternative control groups. Significant differences were found on the trait EI factors of Well-being (where the healthy group scored higher than the RA group) and Sociability (where the healthy group scored higher than both the RA group and the RA plus one comorbidity group). The discussion centers on the multifarious links and interplay between emotions and inflammatory conditions. PMID:23725416

  6. Heteroscedastic Latent Trait Models for Dichotomous Data.

    Science.gov (United States)

    Molenaar, Dylan

    2015-09-01

    Effort has been devoted to account for heteroscedasticity with respect to observed or latent moderator variables in item or test scores. For instance, in the multi-group generalized linear latent trait model, it could be tested whether the observed (polychoric) covariance matrix differs across the levels of an observed moderator variable. In the case that heteroscedasticity arises across the latent trait itself, existing models commonly distinguish between heteroscedastic residuals and a skewed trait distribution. These models have valuable applications in intelligence, personality and psychopathology research. However, existing approaches are only limited to continuous and polytomous data, while dichotomous data are common in intelligence and psychopathology research. Therefore, in present paper, a heteroscedastic latent trait model is presented for dichotomous data. The model is studied in a simulation study, and applied to data pertaining alcohol use and cognitive ability. PMID:25080866

  7. TRY - a global database of plant traits

    NARCIS (Netherlands)

    Kattge, J.; Diaz, S.; Lavorel, S.; Prentices, I.C.; Leadley, P.; Bönisch, G.; Garnier, E.; Westobys, M.; Reich, P.B.; Wrights, I.J.; Cornelissen, C.; Violle, C.; Harisson, S.P.; Bodegom, van P.M.; Reichstein, M.; Enquist, B.J.; Soudzilovskaia, N.A.; Ackerly, D.D.; Anand, M.; Atkin, O.; Bahn, M.; Baker, T.R.; Baldochi, D.; Bekker, R.; Blanco, C.C.; Blonders, B.; Bond, W.J.; Bradstock, R.; Bunker, D.E.; Casanoves, F.; Cavender-Bares, J.; Chambers, J.Q.; Chapin III, F.S.; Chave, J.; Coomes, D.; Cornwell, W.K.; Craine, J.M.; Dobrin, B.H.; Duarte, L.; Durka, W.; Elser, J.; Esser, G.; Estiarte, M.; Fagan, W.F.; Fang, J.; Fernadez-Mendez, F.; Fidelis, A.; Finegan, B.; Flores, O.; Ford, H.; Frank, D.; Freschet, T.; Fyllas, N.M.; Gallagher, R.V.; Green, W.A.; Gutierrez, A.G.; Hickler, T.; Higgins, S.I.; Hodgson, J.G.; Jalili, A.; Jansen, S.; Joly, C.A.; Kerkhoff, A.J.; Kirkup, D.; Kitajima, K.; Kleyer, M.; Klotz, S.; Knops, J.M.H.; Kramer, K.; Kühn, I.; Kurokawa, H.; Laughlin, D.; Lee, T.D.; Leishman, M.; Lens, F.; Lewis, S.L.; Lloyd, J.; Llusia, J.; Louault, F.; Ma, S.; Mahecha, M.D.; Manning, P.; Massad, T.; Medlyn, B.E.; Messier, J.; Moles, A.T.; Müller, S.C.; Nadrowski, K.; Naeem, S.; Niinemets, Ü.; Nöllert, S.; Nüske, A.; Ogaya, R.; Oleksyn, J.; Onipchenko, V.G.; Onoda, Y.; Ordonez Barragan, J.C.; Ozinga, W.A.; Poorter, L.

    2011-01-01

    Plant traits – the morphological, anatomical, physiological, biochemical and phenological characteristics of plants and their organs – determine how primary producers respond to environmental factors, affect other trophic levels, influence ecosystem processes and services and provide a link from spe

  8. TRY - a global database of plant traits

    NARCIS (Netherlands)

    Kattge, J.; Diaz, S.; Lavorel, S.; Prentice, C.; Leadley, P.; Boenisch, G.; Garnier, E.; Westoby, M.; Reich, P. B.; Wright, I. J.; Cornelissen, J. H. C.; Violle, C.; Harrison, S. P.; van Bodegom, P. M.; Reichstein, M.; Enquist, B. J.; Soudzilovskaia, N. A.; Ackerly, D. D.; Anand, M.; Atkin, O.; Bahn, M.; Baker, T. R.; Baldocchi, D.; Bekker, R.; Blanco, C. C.; Blonder, B.; Bond, W. J.; Bradstock, R.; Bunker, D. E.; Casanoves, F.; Cavender-Bares, J.; Chambers, J. Q.; Chapin, F. S.; Chave, J.; Coomes, D.; Cornwell, W. K.; Craine, J. M.; Dobrin, B. H.; Duarte, L.; Durka, W.; Elser, J.; Esser, G.; Estiarte, M.; Fagan, W. F.; Fang, J.; Fernandez-Mendez, F.; Fidelis, A.; Finegan, B.; Flores, O.; Ford, H.; Frank, D.; Freschet, G. T.; Fyllas, N. M.; Gallagher, R. V.; Green, W. A.; Gutierrez, A. G.; Hickler, T.; Higgins, S. I.; Hodgson, J. G.; Jalili, A.; Jansen, S.; Joly, C. A.; Kerkhoff, A. J.; Kirkup, D.; Kitajima, K.; Kleyer, M.; Klotz, S.; Knops, J. M. H.; Kramer, K.; Kuehn, I.; Kurokawa, H.; Laughlin, D.; Lee, T. D.; Leishman, M.; Lens, F.; Lenz, T.; Lewis, S. L.; Lloyd, J.; Llusia, J.; Louault, F.; Ma, S.; Mahecha, M. D.; Manning, P.; Massad, T.; Medlyn, B. E.; Messier, J.; Moles, A. T.; Mueller, S. C.; Nadrowski, K.; Naeem, S.; Niinemets, Ue.; Noellert, S.; Nueske, A.; Ogaya, R.; Oleksyn, J.; Onipchenko, V. G.; Onoda, Y.; Ordonez, J.; Overbeck, G.; Ozinga, W. A.; Patino, S.; Paula, S.; Pausas, J. G.; Penuelas, J.; Phillips, O. L.; Pillar, V.; Poorter, H.; Poorter, L.; Poschlod, P.; Prinzing, A.; Proulx, R.; Rammig, A.; Reinsch, S.; Reu, B.; Sack, L.; Salgado-Negre, B.; Sardans, J.; Shiodera, S.; Shipley, B.; Siefert, A.; Sosinski, E.; Soussana, J. -F.; Swaine, E.; Swenson, N.; Thompson, K.; Thornton, P.; Waldram, M.; Weiher, E.; White, M.; White, S.; Wright, S. J.; Yguel, B.; Zaehle, S.; Zanne, A. E.; Wirth, C.

    2011-01-01

    Plant traits - the morphological, anatomical, physiological, biochemical and phenological characteristics of plants and their organs - determine how primary producers respond to environmental factors, affect other trophic levels, influence ecosystem processes and services and provide a link from spe

  9. Flood adaptive traits and processes : An overview

    NARCIS (Netherlands)

    Voesenek, Laurentius A C J; Bailey-Serres, Julia

    2015-01-01

    Unanticipated flooding challenges plant growth and fitness in natural and agricultural ecosystems. Here we describe mechanisms of developmental plasticity and metabolic modulation that underpin adaptive traits and acclimation responses to waterlogging of root systems and submergence of aerial tissue

  10. Syndromes with supernumerary teeth.

    Science.gov (United States)

    Lubinsky, Mark; Kantaputra, Piranit Nik

    2016-10-01

    While most supernumerary teeth are idiopathic, they can be associated with a number of Mendelian syndromes. However, this can also be a coincidental finding, since supernumerary teeth occur in 6% or more of the normal population. To better define this relationship, we analyzed the evidence for specific associations. We excluded conditions with a single affected patient reported, supernumerary teeth adjacent to clefts or other forms of alveolar disruption (as secondary rather than primary findings), and natal teeth, which can involve premature eruption of a normal tooth. Since, the cause of supernumerary teeth shows considerable heterogeneity, certain findings are less likely to be coincidental, such as five or more supernumerary teeth in a single patient, or locations outside of the premaxilla. We found only eight genetic syndromes with strong evidence for an association: cleidocranial dysplasia; familial adenomatous polyposis; trichorhinophalangeal syndrome, type I; Rubinstein-Taybi syndrome; Nance-Horan syndrome; Opitz BBB/G syndrome; oculofaciocardiodental syndrome; and autosomal dominant Robinow syndrome. There is also suggestive evidence of an association with two uncommon disorders, Kreiborg-Pakistani syndrome (craniosynostosis and dental anomalies), and insulin-resistant diabetes mellitus with acanthosisnigricans. An association of a Mendelian disorder with a low frequency manifestation of supernumerary teeth is difficult to exclude without large numbers, but several commonly cited syndromes lacked evidence for clear association, including Hallermann-Streiff syndrome, Fabry disease, Ehlers-Danlos syndrome, Apert and Crouzon syndromes, Zimmermann-Laband syndrome, and Ellis-van Creveld syndrome. © 2016 Wiley Periodicals, Inc. PMID:27250821

  11. A bivariate quantitative genetic model for a threshold trait and a survival trait

    Directory of Open Access Journals (Sweden)

    Damgaard Lars

    2006-11-01

    Full Text Available Abstract Many of the functional traits considered in animal breeding can be analyzed as threshold traits or survival traits with examples including disease traits, conformation scores, calving difficulty and longevity. In this paper we derive and implement a bivariate quantitative genetic model for a threshold character and a survival trait that are genetically and environmentally correlated. For the survival trait, we considered the Weibull log-normal animal frailty model. A Bayesian approach using Gibbs sampling was adopted in which model parameters were augmented with unobserved liabilities associated with the threshold trait. The fully conditional posterior distributions associated with parameters of the threshold trait reduced to well known distributions. For the survival trait the two baseline Weibull parameters were updated jointly by a Metropolis-Hastings step. The remaining model parameters with non-normalized fully conditional distributions were updated univariately using adaptive rejection sampling. The Gibbs sampler was tested in a simulation study and illustrated in a joint analysis of calving difficulty and longevity of dairy cattle. The simulation study showed that the estimated marginal posterior distributions covered well and placed high density to the true values used in the simulation of data. The data analysis of calving difficulty and longevity showed that genetic variation exists for both traits. The additive genetic correlation was moderately favorable with marginal posterior mean equal to 0.37 and 95% central posterior credibility interval ranging between 0.11 and 0.61. Therefore, this study suggests that selection for improving one of the two traits will be beneficial for the other trait as well.

  12. A bivariate quantitative genetic model for a threshold trait and a survival trait.

    Science.gov (United States)

    Damgaard, Lars Holm; Korsgaard, Inge Riis

    2006-01-01

    Many of the functional traits considered in animal breeding can be analyzed as threshold traits or survival traits with examples including disease traits, conformation scores, calving difficulty and longevity. In this paper we derive and implement a bivariate quantitative genetic model for a threshold character and a survival trait that are genetically and environmentally correlated. For the survival trait, we considered the Weibull log-normal animal frailty model. A Bayesian approach using Gibbs sampling was adopted in which model parameters were augmented with unobserved liabilities associated with the threshold trait. The fully conditional posterior distributions associated with parameters of the threshold trait reduced to well known distributions. For the survival trait the two baseline Weibull parameters were updated jointly by a Metropolis-Hastings step. The remaining model parameters with non-normalized fully conditional distributions were updated univariately using adaptive rejection sampling. The Gibbs sampler was tested in a simulation study and illustrated in a joint analysis of calving difficulty and longevity of dairy cattle. The simulation study showed that the estimated marginal posterior distributions covered well and placed high density to the true values used in the simulation of data. The data analysis of calving difficulty and longevity showed that genetic variation exists for both traits. The additive genetic correlation was moderately favorable with marginal posterior mean equal to 0.37 and 95% central posterior credibility interval ranging between 0.11 and 0.61. Therefore, this study suggests that selection for improving one of the two traits will be beneficial for the other trait as well.

  13. Mapping of quantitative trait loci for flesh colour and growth traits in Atlantic salmon (Salmo salar)

    OpenAIRE

    Moen Thomas; Baranski Matthew; Våge Dag

    2010-01-01

    Abstract Background Flesh colour and growth related traits in salmonids are both commercially important and of great interest from a physiological and evolutionary perspective. The aim of this study was to identify quantitative trait loci (QTL) affecting flesh colour and growth related traits in an F2 population derived from an isolated, landlocked wild population in Norway (Byglands Bleke) and a commercial production population. Methods One hundred and twenty-eight informative microsatellite...

  14. Multiple Quantitative Trait Analysis Using Bayesian Networks

    OpenAIRE

    Scutari, Marco; Howell, Phil; Balding, David J.; Mackay, Ian

    2014-01-01

    Models for genome-wide prediction and association studies usually target a single phenotypic trait. However, in animal and plant genetics it is common to record information on multiple phenotypes for each individual that will be genotyped. Modeling traits individually disregards the fact that they are most likely associated due to pleiotropy and shared biological basis, thus providing only a partial, confounded view of genetic effects and phenotypic interactions. In this article we use data f...

  15. Emotions shape memory suppression in trait anxiety

    OpenAIRE

    Marzi, Tessa; Regina, Antonio; Righi, Stefania

    2014-01-01

    The question that motivated this study was to investigate the relation between trait anxiety, emotions and memory control. To this aim, memory suppression was explored in high and low trait anxiety individuals with the Think/No-think paradigm. After learning associations between neutral words and emotional scenes (negative, positive, and neutral), participants were shown a word and were requested either to think about the associated scene or to block it out from mind. Finally, in a test phase...

  16. Emotions shape memory suppression in trait anxiety

    OpenAIRE

    Tessa eMarzi; Antonio eRegina; Stefania eRighi

    2014-01-01

    The question that motivated this study was to investigate the relation between trait anxiety, emotions and memory control. To this aim, memory suppression was explored in high and low trait anxiety individuals with the Think/No-think paradigm. After learning associations between neutral words and emotional scenes (negative, positive and neutral), participants were shown a word and were requested either to think about the associated scene or to block it out from mind. Finally, in a test phase,...

  17. Stereotypes about sex related personality traits

    Directory of Open Access Journals (Sweden)

    Andreja Avsec

    2002-05-01

    Full Text Available In present research, stereotypes about sex differences in personality traits were examined. They were compared to traits, included in two masculinity and femininity questionnaires and to big five factors. Results indicate the presence of gender stereotypes and their similarity to stereotypes, discovered in other studies. The majority of attributes that comprise stereotypes about average man pertain to assertive and controlling tendency, but in stereotypes about average woman caring and nurturant qualities predominate.

  18. Traits Contributing to the Autistic Spectrum

    OpenAIRE

    Steer, Colin D; Jean Golding; Bolton, Patrick F

    2010-01-01

    BACKGROUND: It is increasingly recognised that traits associated with autism reflect a spectrum with no clear boundary between typical and atypical behaviour. Dimensional traits are needed to investigate the broader autism phenotype. METHODS AND PRINCIPAL FINDINGS: Ninety-three individual measures reflecting components of social, communication and repetitive behaviours characterising autistic spectrum disorder (ASD) were identified between the ages of 6 months and 9 years from the ALSPAC data...

  19. Trait-oriented programming in Java 8

    OpenAIRE

    Bono, Viviana; Mensa, Enrico; Naddeo, Marco

    2014-01-01

    Java 8 was released recently. Along with lambda expressions, a new language construct is introduced: default methods in interfaces. The intent of this feature is to allow interfaces to be extended over time preserving backward compatibility. In this paper, we show a possible, different use of interfaces with default methods: we introduce a trait-oriented programming style based on an interface-as- trait idea, with the aim of improving code modularity. Starting from the most common operators o...

  20. Verified Subtyping with Traits and Mixins

    OpenAIRE

    Sharma, Asankhaya

    2014-01-01

    Traits allow decomposing programs into smaller parts and mixins are a form of composition that resemble multiple inheritance. Unfortunately, in the presence of traits, programming languages like Scala give up on subtyping relation between objects. In this paper, we present a method to check subtyping between objects based on entailment in separation logic. We implement our method as a domain specific language in Scala and apply it on the Scala standard library. We have verified that 67% of mi...

  1. Trait and state authenticity across cultures

    OpenAIRE

    Slabu, L; Lenton, A.; Sedikides, Constantine; Bruder, Martin

    2014-01-01

    We examined the role of culture in both trait and state authenticity, asking whether the search for and experience of the “true self” is a uniquely Western phenomenon or is relevant cross-culturally. We tested participants from the United States, China, India, and Singapore. U.S. participants reported higher average levels of trait authenticity than those from Eastern cultures (i.e., China, India, Singapore), but this effect was partially explained by cultural differences in self-construal an...

  2. [Hepatopulmonary syndrome].

    Science.gov (United States)

    Thévenot, Thierry; Weil, Delphine; Garioud, Armand; Lison, Hortensia; Cadranel, Jean-François; Degano, Bruno

    2016-05-01

    Hepatopulmonary syndrome (HPS) is defined by the association of portal hypertension, increased alveolar-arterial oxygen gradient and intrapulmonary vascular dilations. Pathophysiological mechanisms of hypoxemia are characterized by ventilation-perfusion mismatch, oxygen diffusion limitation between alveolus and the centre of the dilated capillary, and right-to-left shunting. An excess of vasodilator molecules (like nitric monoxide) and proangiogenic factors (like VEGF) play an important role in the occurrence of HPS. Symptoms of HPS are not specific and dominated by a progressive dyspnea in upright position. Pulse oximetry is a simple non-invasive screening test but only detect the most severe forms of HPS. Medical treatment is disappointing and only liver transplantation may lead to resolution of HPS. Survival following liver transplantation is promising when hypoxemia is not severely decreased. PMID:27021476

  3. Antiphospholipid syndrome.

    Science.gov (United States)

    George, Diane; Erkan, Doruk

    2009-01-01

    The antiphospholipid syndrome (APS) is an autoimmune systemic disease that is diagnosed when there is vascular thrombosis and/or pregnancy morbidity occurring with persistently positive antiphospholipid antibodies (aPL) (lupus anticoagulant test, anticardiolipin antibodies, and/or anti-beta(2)-glycoprotein I antibodies). Although International APS Classification Criteria have been formulated to provide a uniform approach to APS research, aPL may cause a spectrum of clinical manifestations, some of which are not included in these criteria. The main aPL-related cardiac manifestations include valve abnormalities (vegetations and/or thickening), myocardial infarction (MI), intracardiac thrombi, and myocardial microthrombosis. In this article, we will review the definition, etiopathogenesis, clinical manifestations, diagnosis, and treatment of aPL-related clinical events with emphasis on cardiac manifestations. PMID:19732604

  4. Job burnout and engagement among teachers – Worklife areas and personality traits as predictors of relationships with work

    OpenAIRE

    Justyna Mojsa-Kaja; Krystyna Golonka; Tadeusz Marek

    2015-01-01

    Introduction The main goal of the present study was to analyze the burnout syndrome due to selected personality traits (based on the Cloninger’s psychobiological personality model and positive and negative affectivity) and the degree of mismatch between teachers and their work environment (described in terms of the Model of Worklife Areas). The 2nd goal was to determine if the participants could be classified into different burnout profile groups (clusters) based on their burnout dimension (e...

  5. Single nucleotide polymorphisms linked to quantitative trait loci for grain quality traits in wheat

    Institute of Scientific and Technical Information of China (English)

    Chunlian Li; Guihua Bai; Shiaoman Chao; Brett Carver; Zhonghua Wang

    2016-01-01

    Wheat (Triticum aestivum L.) grain quality traits that are controlled by quantitative traits loci (QTL) define suitable growing areas and potential end-use products of a wheat cultivar. To dissect QTL for these traits including protein content (GPC);test weight (TW);single kernel characterization system (SKCS)-estimated kernel weight (SKW); kernel diameter (KD);kernel hardness measured by near-infrared reflectance spectroscopy (NIRS) hardness index (NHI); and SKCS-hardness index (SHI), a high-density genetic map with single nucleotide polymorphism (SNP) and simple sequence repeat (SSR) markers was developed using recombinant inbred lines (RILs) derived from Ning7840 × Clark. The RILs were evaluated for these quality traits in seven Oklahoma environments from 2001 to 2003. A total of 41 QTL with additive effects on different traits were mapped on most wheat chromosomes, excluding 1A, 2A, 3D, 4D, 6D, and 7B. Seven chromosome regions showed either tightly linked QTL or QTL with pleiotropic effects on two to four traits. Ten pairs of QTL showed additive × additive effects (AA), four QTL were involved in additive × environment (AE) effects, and one was involved in AAE effects. Two to eleven QTL for each of the six traits and 139 tightly linked markers to these QTL were identified. The findings shed light on the inheritance of wheat grain quality traits and provide DNA markers for manipulating these important traits to improve quality of new wheat cultivars.

  6. Genome Scan Detects Quantitative Trait Loci Affecting Female Fertility Traits in Danish and Swedish Holstein Cattle

    DEFF Research Database (Denmark)

    Höglund, Johanna Karolina; Guldbrandtsen, B; Su, G;

    2009-01-01

    microsatellite markers. Single trait breeding values were used for 12 traits relating to female fertility and female reproductive disorders. Data were analyzed by least squares regression analysis within and across families. Twenty-six QTL were detected on 17 different chromosomes. The best evidence was found......Data from the joint Nordic breeding value prediction for Danish and Swedish Holstein grandsire families were used to locate quantitative trait loci (QTL) for female fertility traits in Danish and Swedish Holstein cattle. Up to 36 Holstein grandsires with over 2,000 sons were genotyped for 416...

  7. Transdiagnostic cognitive processes in high trait anger.

    Science.gov (United States)

    Owen, John M

    2011-03-01

    Trait anger is a personality construct that refers to stable individual differences in the propensity to experience anger as an emotional state. The objective of this paper is to review relevant empirical studies in order to determine whether the transdiagnostic cognitive processes that have been identified across the DSM-IV Axis I disorders (specifically, selective attention, memory biases, reasoning biases and recurrent negative thinking) are also an underlying characteristic of high trait anger. On the basis of the review it is concluded that, whilst the research base is limited, there is good evidence that high trait anger is associated with selective attention to hostile social cues, the tendency to interpret the behaviour of others as indicating potential hostility and the tendency to ruminate over past anger-provoking experiences. The range of cognitive processes identified in high trait anger is consistent with those identified in the Axis I disorders. It is concluded that these findings provide support for (i) the broad applicability of the transdiagnostic approach as a theoretical framework for understanding a range of psychological conditions, not limited to the Axis I disorders, and (ii) the validity of conceptualising high trait anger as an aspect of personality functioning that is maintained, at least in part, by cognitive processes. Cognitive and motivational factors (specifically, beliefs and goals) that may underlie the hostile information-processing biases and recurrent negative thinking associated with high trait anger are discussed, and consideration is given to the clinical relevance of the findings of the review. PMID:21094569

  8. Sticky platelet syndrome: history and future perspectives.

    Science.gov (United States)

    Kubisz, Peter; Ruiz-Argüelles, Guillermo J; Stasko, Jan; Holly, Pavol; Ruiz-Delgado, Guillermo J

    2014-07-01

    The sticky platelet syndrome (SPS) is a thrombophilic qualitative platelet disorder with familial occurrence and autosomal dominant trait, characterized by increased in vitro platelet aggregation after low concentrations of adenosine diphosphate and/or epinephrine. Its clinical manifestation includes arterial thrombosis, pregnancy complications (fetal growth retardation and fetal loss), and less often venous thromboembolism. SPS was considered to be a rare thrombophilic disorder, but it can be found relatively often as a cause of unexplained thrombosis, particularly among patients with arterial thrombosis such as stroke. The syndrome was recognized as a distinct disorder in 1983 by Holiday and further characterized in the 1980s and 1990s, with Mammen and Bick providing the key findings. Although recognized for more than 30 years, significant issues, namely the syndrome's etiology, inheritance, and epidemiology, remain unclear. The aim of the first part of this review is to summarize the previous 35 years of the research into, and to provide a brief historical account of, SPS. The history section is focused particularly on the work of two most prominent investigators: Eberhard F. Mammen and Rodger L. Bick. The second part summarizes the present understanding of the syndrome and outlines unresolved issues and the trends in which the future research is likely to continue. PMID:24911675

  9. Ehlers-Danlos syndrome type IV

    Directory of Open Access Journals (Sweden)

    Germain Dominique P

    2007-07-01

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

  10. Theoretical and experimental studies on behavioral syndromes in aphids

    OpenAIRE

    Simon, Franz Wesley

    2014-01-01

    Individuals’ behaviors can be correlated across time and contexts, in a phenomenon now known as behavioral syndromes. Using an experimental approach, I demonstrate that genetically identical pea aphids are highly repeatable in multiple behavioral traits, however these behaviors are uncorrelated. Then using a state variable model I show that asymmetries in size can maintain a hierarchy between least and most bold individuals in foraging intensity across development. However, individuals tha...

  11. The familial hyperchylomicronemia syndrome: New insights into underlying genetic defects

    Energy Technology Data Exchange (ETDEWEB)

    Santamarina-Fojo, S.; Brewer, H.B. (National Inst. of Health, Bethesda, MD (United States))

    1991-02-20

    This case history reports the diagnosis of familial hyperchylomicronemia, a rare genetic syndrome inherited as an autosomal recessive trait. It is characterized by severe fasting hypertriglyceridemia and massive accumulations of chylomicrons in plasma. The two major molecular defects in the disease are a deficiency of lipoprotein lipase or of apo C-II. The location of the mutations in the human apolipoprotein (apo) C-II gene are identified.

  12. Invasive plants and enemy release: evolution of trait means and trait correlations in Ulex europaeus.

    Directory of Open Access Journals (Sweden)

    Benjamin Hornoy

    Full Text Available Several hypotheses that attempt to explain invasive processes are based on the fact that plants have been introduced without their natural enemies. Among them, the EICA (Evolution of Increased Competitive Ability hypothesis is the most influential. It states that, due to enemy release, exotic plants evolve a shift in resource allocation from defence to reproduction or growth. In the native range of the invasive species Ulex europaeus, traits involved in reproduction and growth have been shown to be highly variable and genetically correlated. Thus, in order to explore the joint evolution of life history traits and susceptibility to seed predation in this species, we investigated changes in both trait means and trait correlations. To do so, we compared plants from native and invaded regions grown in a common garden. According to the expectations of the EICA hypothesis, we observed an increase in seedling height. However, there was little change in other trait means. By contrast, correlations exhibited a clear pattern: the correlations between life history traits and infestation rate by seed predators were always weaker in the invaded range than in the native range. In U. europaeus, the role of enemy release in shaping life history traits thus appeared to imply trait correlations rather than trait means. In the invaded regions studied, the correlations involving infestation rates and key life history traits such as flowering phenology, growth and pod density were reduced, enabling more independent evolution of these key traits and potentially facilitating local adaptation to a wide range of environments. These results led us to hypothesise that a relaxation of genetic correlations may be implied in the expansion of invasive species.

  13. Marfan syndrome is closely linked to a marker on chromosome 15q1. 5 r arrow q2. 1

    Energy Technology Data Exchange (ETDEWEB)

    Tsipouras, P.; Sarfarazi, M.; Devi, A. (Univ. of Connecticut Health Center, Farmington (United States)); Weiffenbach, B. (Collaborative Research, Inc., Waltham, MA (United States)); Boxer, M. (Ninewells Hospital and Medical School, Dundee (Scotland))

    1991-05-15

    Marfan syndrome is a systemic disorder of the connective tissue inherited as an autosomal dominant trait. The disorder imparts significant morbidity and martality. The etiology of the disorder remains elusive. A recent study localized the gene for Marfan syndrome on chromosome 15. The authors present data showing that marker D15S48 is genetically linked to Marfan syndrome. Pairwise linkage analysis gave a maximum lod (logarithm of odds) score of Z = 11.78 at {theta} = 0.02. Furthermore our data suggest that the Marfan syndrome locus is possibly flanked on either side by D15S48 and D15S49.

  14. Genetics Home Reference: Rett syndrome

    Science.gov (United States)

    ... Help Me Understand Genetics Home Health Conditions Rett syndrome Rett syndrome Enable Javascript to view the expand/collapse ... autism-dementia-ataxia-loss of purposeful hand use syndrome Rett disorder Rett's disorder Rett's syndrome RTS RTT Related ...

  15. Prenatal Tests for Down Syndrome

    Science.gov (United States)

    PRENATAL TESTS FOR DOWN SYNDROME S HARE W ITH W OMEN PRENATAL TESTS FOR DOWN SYNDROME What Is Down Syndrome? ... suggests that you consult your health care provider. PRENATAL TESTS FOR DOWN SYNDROME 256 Volume 50, No. ...

  16. Nevoid Basal Cell Carcinoma Syndrome

    Science.gov (United States)

    ... Nevoid Basal Cell Carcinoma Syndrome Request Permissions Nevoid Basal Cell Carcinoma Syndrome Approved by the Cancer.Net Editorial Board , 04/2016 What is Nevoid Basal Cell Carcinoma Syndrome? Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is ...

  17. Trait aggression and trait impulsivity are not related to frontal cortex 5-HT2A receptor binding in healthy individuals

    DEFF Research Database (Denmark)

    da Cunha-Bang, Sophie; Stenbæk, Dea Siggaard; Holst, Klaus;

    2013-01-01

    age 47.0±18.7, range 23-86) to determine if trait aggression and trait impulsivity were related to frontal cortex 5-HT2A receptor binding (5-HT2AR) as measured with [(18)F]-altanserin PET imaging. Trait aggression and trait impulsivity were assessed with the Buss-Perry Aggression Questionnaire (AQ...

  18. The trait emotional intelligence of ballet dancers and musicians

    OpenAIRE

    Petrides, K. V.; Niven, L; Mouskounti, T.

    2006-01-01

    Trait emotional intelligence ('trait EI' or 'trait emotional self-efficacy') is a constellation of emotion-related self-perceptions and dispositions comprising the affective aspects of normal adult personality. The two studies in this paper investigate the construct validity of trait EI, as operationalized by the Trait Emotional Intelligence Questionnaire (TEIQue). In Study 1 (34 ballet students; 5 ballet teachers), we found moderate to high levels of convergence between self and other rating...

  19. Burning Mouth Syndrome and "Burning Mouth Syndrome".

    Science.gov (United States)

    Rifkind, Jacob Bernard

    2016-03-01

    Burning mouth syndrome is distressing to both the patient and practitioner unable to determine the cause of the patient's symptoms. Burning mouth syndrome is a diagnosis of exclusion, which is used only after nutritional deficiencies, mucosal disease, fungal infections, hormonal disturbances and contact stomatitis have been ruled out. This article will explore the many causes and treatment of patients who present with a chief complaint of "my mouth burns," including symptomatic treatment for those with burning mouth syndrome. PMID:27209717

  20. Life-history syndromes: integrating dispersal through space and time.

    Science.gov (United States)

    Buoro, Mathieu; Carlson, Stephanie M

    2014-06-01

    Recent research has highlighted interdependencies between dispersal and other life-history traits, i.e. dispersal syndromes, thereby revealing constraints on the evolution of dispersal and opportunities for improved ability to predict dispersal by considering suites of dispersal-related traits. This review adds to the growing list of life-history traits linked to spatial dispersal by emphasising the interdependence between dispersal through space and time, i.e. life-history diversity that distributes individuals into separate reproductive events. We reviewed the literature that has simultaneously investigated spatial and temporal dispersal to examine the prediction that traits of these two dispersal strategies are negatively correlated. Our results suggest that negative covariation is widely anticipated from theory. Empirical studies often reported evidence of weak negative covariation, although more complicated patterns were also evident, including across levels of biological organisation. Existing literature has largely focused on plants with dormancy capability, one or two phases of the dispersal process (emigration and/or transfer) and a single level of biological organisation (theory: individual; empirical: species). We highlight patterns of covariation across levels of organisation and conclude with a discussion of the consequences of dispersal through space and time and future research areas that should improve our understanding of dispersal-related life-history syndromes.

  1. Sample size for morphological traits of pigeonpea

    Directory of Open Access Journals (Sweden)

    Giovani Facco

    2015-12-01

    Full Text Available The objectives of this study were to determine the sample size (i.e., number of plants required to accurately estimate the average of morphological traits of pigeonpea (Cajanus cajan L. and to check for variability in sample size between evaluation periods and seasons. Two uniformity trials (i.e., experiments without treatment were conducted for two growing seasons. In the first season (2011/2012, the seeds were sown by broadcast seeding, and in the second season (2012/2013, the seeds were sown in rows spaced 0.50 m apart. The ground area in each experiment was 1,848 m2, and 360 plants were marked in the central area, in a 2 m × 2 m grid. Three morphological traits (e.g., number of nodes, plant height and stem diameter were evaluated 13 times during the first season and 22 times in the second season. Measurements for all three morphological traits were normally distributed and confirmed through the Kolmogorov-Smirnov test. Randomness was confirmed using the Run Test, and the descriptive statistics were calculated. For each trait, the sample size (n was calculated for the semiamplitudes of the confidence interval (i.e., estimation error equal to 2, 4, 6, ..., 20% of the estimated mean with a confidence coefficient (1-? of 95%. Subsequently, n was fixed at 360 plants, and the estimation error of the estimated percentage of the average for each trait was calculated. Variability of the sample size for the pigeonpea culture was observed between the morphological traits evaluated, among the evaluation periods and between seasons. Therefore, to assess with an accuracy of 6% of the estimated average, at least 136 plants must be evaluated throughout the pigeonpea crop cycle to determine the sample size for the traits (e.g., number of nodes, plant height and stem diameter in the different evaluation periods and between seasons. 

  2. Mobbing syndrome

    Directory of Open Access Journals (Sweden)

    Sakoula Z.

    2014-07-01

    Full Text Available Introduction: The term mobbing comes from the English word mob, meaning attack, Compass bother. Today is the systematic psychological attack and a strategic marginalization accepted at the workplace from their superiors or colleagues unwanted, for various reasons, employees. The term was used in 1800 by British biology, description of aggressive behavior in flight, certain species of migratory birds. In 1900, ethologist Konrad Lorenz uses it to interpret the hostility of the majority of the herd, compared to lean animals of the same breed. The German psychologist Heinz Leyman, is the first, which is in the 80s, attributes the condition in human society, describing all the negative health effects of mobbing in the workplace as a "syndrome mobbing». Purpose: To work is to illustrate the phenomenon mobbing, which can appear as a problem in the relationship of the perpetrator to the victim, but also implies the presence of such conditions to occur and flourish. Literature Review: searched the literature, internet, Keyword: Work or Employee Abuse, Mistreatment, Emotional Abuse, Bossing, Victimization, Intimidation, Psychological terrorization, Psychological violence. The mobbing syndrome is defined as "repeated abusive behavior, manifested through actions, words, intimidation, acts, gestures, ways of organizing work and have the character or purpose to offend the personality, dignity or physical or mental integrity of the worker in the performance of his work, to jeopardize the employment status or to create a hostile, intimidating, degrading, humiliating or offensive working environment. According to the French psychiatrist Marie France Hirigoyen, the "offender" is a personality that satisfied 'hurting' his fellows and develops self-esteem, conveying to others the "pain" that cannot feel, but also the internal contradictions that refuses edited. Conclusions: the mobbing is the reason for the development of mental and physical diseases as an

  3. Mapping of quantitative trait loci affecting quality and production traits in egg layers

    NARCIS (Netherlands)

    Tuiskula-Haavisto, M.; Honkatukia, M.; Vilkki, J.; Koning, de D.J.; Schulman, N.F.; Maki-Tanila, A.

    2002-01-01

    A mapping population segregating for egg quality traits was created by a line cross between two egg layer lines and screened by a genome scan. The F2 generation consisted of 307 hens, which were scored for egg quality and production traits. The mapping population was genotyped for 99 microsatellite

  4. Towards a reference plant trait ontology for modeling knowledge of plant traits and phenotypes

    Science.gov (United States)

    Ontology engineering and knowledge modeling for the plant sciences is expected to contribute to the understanding of the basis of plant traits that determine phenotypic expression in a given environment. Several crop- or clade-specific plant trait ontologies have been developed to describe plant tr...

  5. Mapping quantitative trait loci for plant adaptation and morphology traits in wheat using single nucleotide polymorphisms

    Science.gov (United States)

    Wheat (Triticum aestivum L.) morphological and adaptation-related traits that are controlled by quantitative traits loci (QTL) define potential growing areas of a wheat cultivar. To dissect the QTL for heading date (HD), lodging resistance (LR), shattering resistance (SR), cold tolerance (CT), plant...

  6. Leigh syndrome

    International Nuclear Information System (INIS)

    A male infant developed hypotonia at 5 months, vomiting, diarrhea, fever, generalized clonic convulsion, tonic spasm and periodical opisthotonus at 8 months, swallowing difficulty at 10 months, pes equinovarus and optic atrophy at 11 months, and then tachypnea, and died at 14 months of age. Parents were consanguinous. Laboratory studies revealed elevated serum LDH, CPK, lactate and Pyruvate. TPP-ATP phosphoryl transferase inhibitor was negative in urine. EEG showed irregular and diffuse slow waves and periodic diffuse spike and waves. CT scan at 9 months of age showed slightly low attenuation areas in the putamen bilaterally. At 11 months, a diffuse cerebral atrophy was found, and the low attenuation of the basal ganglia became more definite. No enhanced lesion was seen at 13 months of age. Thiamine tetra-hydrofurfuryl disulfide and lipoic acid were tried without success. The pathological findings of the brain were astrogliosis and proliferation of capillaries in putamen, thalamus, caudate neucleus, substantia nigra, pontine brachium and cerebral cortex, which were symmetrically involved. The symmetrical cavitation was found in putamen. Optic nerve and mamillary body were spared. CT scan findings corresponded well with the pathology of the necrotic lesions of the brain. It was concluded that these CT scan pictures described above may be diagnostic of Leigh syndrome. (author)

  7. Hepatorenal Syndrome

    Directory of Open Access Journals (Sweden)

    Pınar Zeyneloğlu

    2012-04-01

    Full Text Available Renal failure is a common major complication in patients with advanced cirrhosis and generally indicates a poor prognosis when combined with liver failure. Hepatorenal syndrome (HRS is characterised by a combination of disturbances in circulatory and kidney function. Arterial pressure is decreased in the systemic circulation due to reduced total systemic vascular resistance. Kidney dysfunction is caused by reduction in renal blood flow. The diagnosis of HRS is based on exclusion of other disorders that cause acute kidney injury in cirrhosis as there are no specific tests. There are two types of HRS with different characteristics and prognostics. Liver transplantation is the treatment of choice for all patients without contraindication. The best approach to the pharmacologic management is the administration vasoconstrictor drugs based on the pathogenesis. Many vasoconstrictors including vasopressin analogues (terlipressin, ornipressin and vasopressin, somatostatin analogues (octreotide and alpha-adrenergic analogues (midodrine and norepinephrine have been studied. In most of the studies intravenous albumin therapy was coadministered with vasoconstrictor drugs and suggested that albumin should be considered as the component of pharmacologic intervention in patients with HRS. Renal replacement therapy in the form of hemodialysis or continuous venovenous hemofiltration has been used in the management of HRS patients awaiting transplantation or in those with acute potentially reversible conditions. The artificial hepatic support systems require further investigation. (Journal of the Turkish Society Intensive Care 2012; 10: 37-44

  8. Quantitative trait loci for yield and morphological traits in maize under drought stress

    Directory of Open Access Journals (Sweden)

    Nikolić Ana

    2011-01-01

    Full Text Available Drought is one of the most important factors contributing to crop yield loss. In order to develop maize varieties with drought tolerance, it is necessary to explore the genetic basis. Mapping quantitative trait loci (QTL that control the yield and associate agronomic traits is one way of understanding drought genetics. QTLs associated with grain yield (GY, leaf width (LW3, LW4 plant height (PH, ear height (EH, leaf number (NL, tassel branch number (TBN and tassel length (TL were studied with composite interval mapping. A total of 43 QTLs were detected, distributed on all chromosomes, except chromosome 9. Phenotypic variability determined for the identified QTLs for all the traits was in the range from 20.99 to 87.24%. Mapping analysis identified genomic regions associated with two traits in a manner that was consistent with phenotypic correlation among traits, supporting either pleiotropy or tight linkage among QTLs.

  9. Emotions shape memory suppression in trait anxiety

    Directory of Open Access Journals (Sweden)

    Tessa eMarzi

    2014-01-01

    Full Text Available The question that motivated this study was to investigate the relation between trait anxiety, emotions and memory control. To this aim, memory suppression was explored in high and low trait anxiety individuals with the Think/No-think paradigm. After learning associations between neutral words and emotional scenes (negative, positive and neutral, participants were shown a word and were requested either to think about the associated scene or to block it out from mind. Finally, in a test phase, participants were again shown each word and asked to recall the paired scene. The results show that memory control is influenced by high trait anxiety and emotions. Low trait anxiety individuals showed a memory suppression effect, whereas there was a lack of memory suppression in high trait anxious individuals, especially for emotionally negative scenes. Thus, we suggest that individuals with anxiety may have difficulty exerting cognitive control over memories with a negative valence. These findings provide evidence that memory suppression can be impaired by anxiety thus highlighting the crucial relation between cognitive control, emotions and individual differences in regulating emotions.

  10. Emotions shape memory suppression in trait anxiety.

    Science.gov (United States)

    Marzi, Tessa; Regina, Antonio; Righi, Stefania

    2014-01-01

    The question that motivated this study was to investigate the relation between trait anxiety, emotions and memory control. To this aim, memory suppression was explored in high and low trait anxiety individuals with the Think/No-think paradigm. After learning associations between neutral words and emotional scenes (negative, positive, and neutral), participants were shown a word and were requested either to think about the associated scene or to block it out from mind. Finally, in a test phase, participants were again shown each word and asked to recall the paired scene. The results show that memory control is influenced by high trait anxiety and emotions. Low trait anxiety individuals showed a memory suppression effect, whereas there was a lack of memory suppression in high trait anxious individuals, especially for emotionally negative scenes. Thus, we suggest that individuals with anxiety may have difficulty exerting cognitive control over memories with a negative valence. These findings provide evidence that memory suppression can be impaired by anxiety thus highlighting the crucial relation between cognitive control, emotions, and individual differences in regulating emotions.

  11. Can soft biometric traits assist user recognition?

    Science.gov (United States)

    Jain, Anil K.; Dass, Sarat C.; Nandakumar, Karthik

    2004-08-01

    Biometrics is rapidly gaining acceptance as the technology that can meet the ever increasing need for security in critical applications. Biometric systems automatically recognize individuals based on their physiological and behavioral characteristics. Hence, the fundamental requirement of any biometric recognition system is a human trait having several desirable properties like universality, distinctiveness, permanence, collectability, acceptability, and resistance to circumvention. However, a human characteristic that possesses all these properties has not yet been identified. As a result, none of the existing biometric systems provide perfect recognition and there is a scope for improving the performance of these systems. Although characteristics like gender, ethnicity, age, height, weight and eye color are not unique and reliable, they provide some information about the user. We refer to these characteristics as "soft" biometric traits and argue that these traits can complement the identity information provided by the primary biometric identifiers like fingerprint and face. This paper presents the motivation for utilizing soft biometric information and analyzes how the soft biometric traits can be automatically extracted and incorporated in the decision making process of the primary biometric system. Preliminary experiments were conducted on a fingerprint database of 160 users by synthetically generating soft biometric traits like gender, ethnicity, and height based on known statistics. The results show that the use of additional soft biometric user information significantly improves (approximately 6%) the recognition performance of the fingerprint biometric system.

  12. The biophysical characterization of the first SCN5A mutation R1512W identified in Chinese sudden unexplained nocturnal death syndrome.

    Science.gov (United States)

    Zheng, Jinxiang; Zhou, Feng; Su, Terry; Huang, Lei; Wu, Yeda; Yin, Kun; Wu, Qiuping; Tang, Shuangbo; Makielski, Jonathan C; Cheng, Jianding

    2016-06-01

    Increasing evidence observed in clinical phenotypes show that abrupt breathing disorders during sleep may play an important role in the pathogenesis of sudden unexplained nocturnal death syndrome (SUNDS). The reported Brugada syndrome causing mutation R1512W in cardiac sodium channel α subunit encoded gene SCN5A, without obvious loss of function of cardiac sodium channel in previous in vitro study, was identified as the first genetic cause of Chinese SUNDS by us. The R1512W carrier was a 38-year-old male SUNDS victim who died suddenly after tachypnea in nocturnal sleep without any structural heart disease. To test our hypothesis that slight acidosis conditions may contribute to the significant loss of function of mutant cardiac sodium channels underlying SUNDS, the biophysical characterization of SCN5A mutation R1512W was performed under both extracellular and intracellular slight acidosis at pH 7.0. The cDNA of R1512W was created using site-directed mutagenesis methods in the pcDNA3 plasmid vector. The wild type (WT) or mutant cardiac sodium channel R1512W was transiently transfected into HEK293 cells. Macroscopic voltage-gated sodium current (INa) was measured 24 hours after transfection with the whole-cell patch clamp method at room temperature in the HEK293 cells. Under the baseline conditions at pH 7.4, R1512W (-175 ± 15 pA/pF) showed about 30% of reduction in peak INa compared to WT (-254 ± 23 pA/pF, P  0.05) but decreased peak INa in R1512W (P death of SUNDS cases in the setting of genetic defect. PMID:27281089

  13. Prosthodontic management of a patient with Gardner′s syndrome: A clinical case report

    Directory of Open Access Journals (Sweden)

    Kunwarjeet Singh

    2014-01-01

    Full Text Available Gardner′s syndrome is a genetic condition demonstrating an autosomal dominant trait and characterized by the multiple colonic polyps (familial adenomatous polyposis coli with sebaceous cysts and jaw osteomas. Various dental abnormalities present in patient′s suffering with this syndrome includes multiple impacted or unerupted teeth, supernumerary teeth, hypodontia, compound odontomes and dentigerous cyst. In this case report, a patient with Gardner′s syndrome who suffered from functional and psychological problems owing to multiple impacted, unerupted teeth and hypodontia was presented. Patient was treated with a maxillary conventional overdenture opposing mandibular custom bar supported overdentures.

  14. Milk-alkali syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000332.htm Milk-alkali syndrome To use the sharing features on this page, please enable JavaScript. Milk-alkali syndrome is a condition in which there ...

  15. What Causes Rett Syndrome?

    Science.gov (United States)

    ... Information Clinical Trials Resources and Publications What causes Rett syndrome? Skip sharing on social media links Share this: ... as bad for development as too little. Is Rett syndrome passed from one generation to the next? In ...

  16. Diabetic hyperglycemic hyperosmolar syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000304.htm Diabetic hyperglycemic hyperosmolar syndrome To use the sharing features on this page, please enable JavaScript. Diabetic hyperglycemic hyperosmolar syndrome (HHS) is a complication of ...

  17. International Rett Syndrome Foundation

    Science.gov (United States)

    ... Reality Donate to Research Reality Fund October is Rett Syndrome Awareness Month Rettsyndrome.org is excited to provide ... Website What’s in Your State? For Families: Find Rett syndrome related resources in your state! State Resources Rettsyndrome. ...

  18. Androgen insensitivity syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001180.htm Androgen insensitivity syndrome To use the sharing features on this page, please enable JavaScript. Androgen insensitivity syndrome (AIS) is when a person who ...

  19. Restless Legs Syndrome Foundation

    Science.gov (United States)

    ... Into Relieved Are you experiencing symptoms linked to restless legs syndrome (RLS)? Find tools and support to help get ... I couldn’t sleep. Fortunately, I found the Restless Legs Syndrome Foundation and learned what type of doctor to ...

  20. Learning about Klinefelter Syndrome

    Science.gov (United States)

    ... for the genetic terms used on this page Learning About Klinefelter Syndrome What is Klinefelter syndrome? What ... they are referred to a doctor to evaluate learning disabilities. The diagnosis may also be considered in ...

  1. Munchausen syndrome by proxy

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001555.htm Munchausen syndrome by proxy To use the sharing features on this page, please enable JavaScript. Munchausen syndrome by proxy is a mental illness and a form of ...

  2. Down Syndrome: Education

    Science.gov (United States)

    ... Kit Financials Newsroom Shop NDSS Home » Resources » Education Education This section includes information about inclusion, elementary and ... and postsecondary options for students with Down syndrome. Education & Down Syndrome This section provides an overview and ...

  3. What Is Marfan Syndrome?

    Science.gov (United States)

    ... 11:11 Size: 10.5 MB November 2014 What Is Marfan Syndrome? Fast Facts: An Easy-to- ... Being Done on Marfan Syndrome? For More Information What Is Connective Tissue? Connective tissue supports many parts ...

  4. Treacher Collins syndrome

    Science.gov (United States)

    Mandibulofacial dysostosis; Treacher Collins-Franceschetti syndrome ... genes, TCOF1 , POLR1C , or POLR1D , can lead to Treacher Collins syndrome. The condition can be passed down through families ( ...

  5. Down Syndrome (For Kids)

    Science.gov (United States)

    ... Dictionary of Medical Words En Español What Other Kids Are Reading Movie: Digestive System Winter Sports: Sledding, ... people who have it. What's Life Like for Kids With Down Syndrome? Many kids with Down syndrome ...

  6. Obesity hypoventilation syndrome (OHS)

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000085.htm Obesity hypoventilation syndrome (OHS) To use the sharing features on this page, please enable JavaScript. Obesity hypoventilation syndrome (OHS) is a condition in some ...

  7. Abdominal Pain Syndrome

    Science.gov (United States)

    ... inspection of a drop of urine), and urine culture for bacterial infection. Stools can be analyzed for ... Hepatitis C Inflammatory Bowel Disease Irritable Bowel Syndrome Obesity Digestive Health Topics Abdominal Pain Syndrome Belching, Bloating, ...

  8. Chinese restaurant syndrome

    Science.gov (United States)

    Chinese restaurant syndrome is a set of symptoms that some people have after eating Chinese food. A food additive ... Chinese restaurant syndrome is most often diagnosed based on the symptoms. The health care provider may ask the following ...

  9. Turner Syndrome (For Parents)

    Science.gov (United States)

    ... special blood test that looks at chromosomes — a karyotype — is used to diagnose Turner syndrome. Several physical ... and prompt him or her to order a karyotype. Results that indicate Turner syndrome show 45 chromosomes ...

  10. The obstetric antiphospholipid syndrome

    NARCIS (Netherlands)

    Derksen, R. H. W. M.; de Grootb, Ph. G.

    2008-01-01

    The association of persistent presence of circulating antiphospholipid antibodies and thromboembolic events, (recurrent) pregnancy loss or both is termed antiphospholipid syndrome. Pregnancies in women with the syndrome should be regarded as at high-risk for complications. Optimal management consist

  11. Development and behaviour in Marshall-Smith syndrome : an exploratory study of cognition, phenotype and autism

    NARCIS (Netherlands)

    van Balkom, I. D. C.; Shaw, A.; Vuijk, P. J.; Franssens, M.; Hoek, H. W.; Hennekam, R. C. M.

    2011-01-01

    Background Marshall-Smith syndrome (MSS) is an infrequently described entity characterised by failure to thrive, developmental delay, abnormal bone maturation and a characteristic face. In studying the physical features of a group of patients, we noticed unusual behavioural traits. This urged us to

  12. A Reflective Conversation with Terry Friedrichs on Teaching Academics to Gifted Students with Asperger Syndrome

    Science.gov (United States)

    Friedrichs, Terence Paul; Shaughnessy, Michael F.

    2015-01-01

    In this reflective interview with Terry Friedrichs--a hands-on academic-learning specialist and researcher with gifted students with Asperger Syndrome--he defines these pupils, describes their "straightforward" and confusing traits, and recounts his initial and later instructional experiences with them over several decades. The piece…

  13. Divergence on floral traits and vertebrate pollinators of two endemic Encholirium bromeliads.

    Science.gov (United States)

    Christianini, A V; Forzza, R C; Buzato, S

    2013-03-01

    Shifts in pollen vectors favour diversification of floral traits, and differences in pollination strategies between congeneric sympatric species can contribute to reproductive isolation. Divergence in flowering phenology and selfing could also reduce interspecific crossing between self-compatible species. We investigated floral traits and visitation rates of pollinators of two sympatric Encholirium species on rocky outcrops to evaluate whether prior knowledge of floral characters could indicate actual pollinators. Data on flowering phenology, visitation rates and breeding system were used to evaluate reproductive isolation. Flowering phenology overlapped between species, but there were differences in floral characters, nectar volume and concentration. Several hummingbird species visited flowers of both Encholirium spp., but the endemic bat Lonchophylla bokermanni and an unidentified sphingid only visited E. vogelii. Pollination treatments demonstrated that E. heloisae and E. vogelii were partially self-compatible, with weak pollen limitation to seed set. Herbivores feeding on inflorescences decreased reproductive output of both species, but for E. vogelii the damage was higher. Our results indicate that actual pollinators can be known beforehand through floral traits, in agreement with pollination syndromes stating that a set of floral traits can be associated with the attraction of specific groups of pollinators. Divergence on floral traits and pollinator assemblage indicate that shifts in pollination strategies contribute to reproductive isolation between these Encholirium species, not divergence on flowering phenology or selfing. We suggest that hummingbird pollination might be the ancestral condition in Encholirium and that evolution of bat pollination made a substantial contribution to the diversification of this clade. PMID:22882351

  14. Metabolic Syndrome and Migraine

    OpenAIRE

    Sachdev, Amit; Marmura, Michael J.

    2012-01-01

    Migraine and metabolic syndrome are highly prevalent and costly conditions. The two conditions coexist, but it is unclear what relationship may exist between the two processes. Metabolic syndrome involves a number of findings, including insulin resistance, systemic hypertension, obesity, a proinflammatory state, and a prothrombotic state. Only one study addresses migraine in metabolic syndrome, finding significant differences in the presentation of metabolic syndrome in migraineurs. However, ...

  15. PRES syndrome

    International Nuclear Information System (INIS)

    Posterior reversible encephalopathy syndrome (PRES) is a clinicoradiological entity characterized by headache, confusion, visual disturbances, seizures and posterior transient changes on neuroimaging. PRES has been described in several conditions including hypertensive encephalopathy, preeclampsia, eclampsia, infections, electrolyte imbalance, hypercalcaemia and use of several drugs. It occurs due to elevated blood pressure which exceeds the autoregulatory capacity of brain vasculature. The posterior circulation supplied by vertibro-basilar system has poor sympathetic innervation and, therefore, is frequently involved. The role of neuroimaging is to establish the initial diagnosis and to exclude other causes of neurological symptoms and signs. NCCT is sufficient to make the diagnosis in a proper clinical setting. MRI features are characteristic and has diagnostic and prognostic value. Diffusion weighted imaging (DWI) can differentiate this condition from ischemia/cytotoxic edema. Differential diagnosis of PRES includes PCA territory infarcts, venous thrombosis, demyelinating disorders, vasculitis and encephalitis. The diagnosis has important implications because the reversibility of the clinico-radiological abnormalities is contingent on the prompt control of blood pressure and/or withdrawing of the offending drug. We describe here a case of PRES in a 12 years old girl with acute lymphoblasts leukaemia, treated with cytostatics-vincristine, pharmorubycin and methotrexate. After 39 days from the beginning of the treatment there are good results in the myelogram and the flowcytometric examination, but the patient made two tonic-clonic seizures. CT and MRI were made and signs of leucoencephalopathy were diagnosed. Several control MRI examinations after cessation of the therapy and disappearance of the neurologic symptoms were made. The normal findings and the clinical course were the reasons for the PRES diagnosis

  16. Familial Crouzon syndrome

    Directory of Open Access Journals (Sweden)

    Y Samatha

    2010-01-01

    Full Text Available Crouzon syndrome is an autosomal dominant condition of the craniosynostotic syndromes without syndactyly and with various dentofacial anomalies. Craniosynostosis, maxillary hypoplasia, shallow orbits, ocular proptosis and hypertelorism are the characteristic features of Crouzon syndrome. This report describes the variable clinical features in affected individuals over two generations of a family with dentofacial deformities and review of literature.

  17. Familial Crouzon syndrome

    OpenAIRE

    Y Samatha; T Harsha Vardhan; A Ravi Kiran; A J Sai Sankar; B Ramakrishna

    2010-01-01

    Crouzon syndrome is an autosomal dominant condition of the craniosynostotic syndromes without syndactyly and with various dentofacial anomalies. Craniosynostosis, maxillary hypoplasia, shallow orbits, ocular proptosis and hypertelorism are the characteristic features of Crouzon syndrome. This report describes the variable clinical features in affected individuals over two generations of a family with dentofacial deformities and review of literature.

  18. The acute radiation syndrome

    International Nuclear Information System (INIS)

    Symptoms and signs from medical aspects resulting from whole body exposure, or in the main part, to ionizing radiation are described. The dose-response relationship is studied and the exposure is divided in three parts: central nervous system syndrome, gastrointestinal syndrome and hematopoietic syndrome. Brief comments about the treatment are reported. (M.A.C.)

  19. What Is Usher Syndrome?

    Science.gov (United States)

    ... into electrical impulses that transfer messages to the brain. How is Usher syndrome inherited? Usher syndrome is ... required for the child to be affected. A person with only one copy of the gene is a ... in deafness and deaf-blindness, but are not related to Usher syndrome. ...

  20. Stiff skin syndrome.

    Science.gov (United States)

    Geng, S; Lei, X; Toyohara, J P; Zhan, P; Wang, J; Tan, S

    2006-07-01

    Stiff skin syndrome is a rare disorder characterized by pronounced skin induration, mild hypertrichosis and limited joint mobility, predominantly on the buttocks and thighs. Many heterogeneous cases have been reported under the name of stiff skin syndrome. We present a case of stiff skin syndrome from China, the diagnosis based on the patient's typical clinical and histopathological features. PMID:16836505

  1. Fragile X Syndrome Overview

    Science.gov (United States)

    ... NICHD Research Information Clinical Trials Resources and Publications Fragile X Syndrome: Overview Skip sharing on social media links Share ... menu on the left. ​ Common Name Fragile X syndrome or Fragile X Medical or Scientific Names Martin-Bell syndrome Last ...

  2. Functional Traits for Carbon Access in Macrophytes.

    Science.gov (United States)

    Stepien, Courtney C; Pfister, Catherine A; Wootton, J Timothy

    2016-01-01

    Understanding functional trait distributions among organisms can inform impacts on and responses to environmental change. In marine systems, only 1% of dissolved inorganic carbon in seawater exists as CO2. Thus the majority of marine macrophytes not only passively access CO2 for photosynthesis, but also actively transport CO2 and the more common bicarbonate (HCO3-, 92% of seawater dissolved inorganic carbon) into their cells. Because species with these carbon concentrating mechanisms (CCMs) are non-randomly distributed in ecosystems, we ask whether there is a phylogenetic pattern to the distribution of CCMs among algal species. To determine macrophyte traits that influence carbon uptake, we assessed 40 common macrophyte species from the rocky intertidal community of the Northeast Pacific Ocean to a) query whether macrophytes have a CCM and b) determine the evolutionary history of CCMs, using ancestral state reconstructions and stochastic character mapping based on previously published data. Thirty-two species not only depleted CO2, but also concentrated and depleted HCO3-, indicative of a CCM. While analysis of CCMs as a continuous trait in 30 families within Phylum Rhodophyta showed a significant phylogenetic signal under a Brownian motion model, analysis of CCMs as a discrete trait (presence or absence) indicated that red algal families are more divergent than expected in their CCM presence or absence; CCMs are a labile trait within the Rhodophyta. In contrast, CCMs were present in each of 18 Ochrophyta families surveyed, indicating that CCMs are highly conserved in the brown algae. The trait of CCM presence or absence was largely conserved within Families. Fifteen of 23 species tested also changed the seawater buffering capacity, or Total Alkalinity (TA), shifting DIC composition towards increasing concentrations of HCO3- and CO2 for photosynthesis. Manipulating the external TA of the local environment may influence carbon availability in boundary layers and

  3. Genome Informed Trait-Based Models

    Science.gov (United States)

    Karaoz, U.; Cheng, Y.; Bouskill, N.; Tang, J.; Beller, H. R.; Brodie, E.; Riley, W. J.

    2013-12-01

    Trait-based approaches are powerful tools for representing microbial communities across both spatial and temporal scales within ecosystem models. Trait-based models (TBMs) represent the diversity of microbial taxa as stochastic assemblages with a distribution of traits constrained by trade-offs between these traits. Such representation with its built-in stochasticity allows the elucidation of the interactions between the microbes and their environment by reducing the complexity of microbial community diversity into a limited number of functional ';guilds' and letting them emerge across spatio-temporal scales. From the biogeochemical/ecosystem modeling perspective, the emergent properties of the microbial community could be directly translated into predictions of biogeochemical reaction rates and microbial biomass. The accuracy of TBMs depends on the identification of key traits of the microbial community members and on the parameterization of these traits. Current approaches to inform TBM parameterization are empirical (i.e., based on literature surveys). Advances in omic technologies (such as genomics, metagenomics, metatranscriptomics, and metaproteomics) pave the way to better-initialize models that can be constrained in a generic or site-specific fashion. Here we describe the coupling of metagenomic data to the development of a TBM representing the dynamics of metabolic guilds from an organic carbon stimulated groundwater microbial community. Illumina paired-end metagenomic data were collected from the community as it transitioned successively through electron-accepting conditions (nitrate-, sulfate-, and Fe(III)-reducing), and used to inform estimates of growth rates and the distribution of metabolic pathways (i.e., aerobic and anaerobic oxidation, fermentation) across a spatially resolved TBM. We use this model to evaluate the emergence of different metabolisms and predict rates of biogeochemical processes over time. We compare our results to observational

  4. Sickle Cell Trait Causing Splanchnic Venous Thrombosis

    Directory of Open Access Journals (Sweden)

    Priyanka Saxena

    2015-01-01

    Full Text Available Sickle cell trait is considered as a benign condition as these individuals carry only one defective gene and typically have their life span similar to the normal population without any health problems related to sickle cell. Only under extreme conditions, red cells become sickled and can cause clinical complications including hematuria and splenic infarction. Although twofold increased risk of venous thrombosis has been described in African Americans, there is no data available from Indian population. We here report a case of sickle cell trait from India whose index presentation was thrombosis of unusual vascular territory.

  5. Correlated genetic effects on reproduction define a domestication syndrome in a forest tree.

    Science.gov (United States)

    Santos-Del-Blanco, Luis; Alía, Ricardo; González-Martínez, Santiago C; Sampedro, Luis; Lario, Francisco; Climent, José

    2015-04-01

    Compared to natural selection, domestication implies a dramatic change in traits linked to fitness. A number of traits conferring fitness in the wild might be detrimental under domestication, and domesticated species typically differ from their ancestors in a set of traits known as the domestication syndrome. Specifically, trade-offs between growth and reproduction are well established across the tree of life. According to allocation theory, selection for growth rate is expected to indirectly alter life-history reproductive traits, diverting resources from reproduction to growth. Here we tested this hypothesis by examining the genetic change and correlated responses of reproductive traits as a result of selection for timber yield in the tree Pinus pinaster. Phenotypic selection was carried out in a natural population, and progenies from selected trees were compared with those of control trees in a common garden experiment. According to expectations, we detected a genetic change in important life-history traits due to selection. Specifically, threshold sizes for reproduction were much higher and reproductive investment relative to size significantly lower in the selected progenies just after a single artificial selection event. Our study helps to define the domestication syndrome in exploited forest trees and shows that changes affecting developmental pathways are relevant in domestication processes of long-lived plants.

  6. CANDLE syndrome: a recently described autoinflammatory syndrome.

    Science.gov (United States)

    Tüfekçi, Özlem; Bengoa, ŞebnemYilmaz; Karapinar, Tuba Hilkay; Ataseven, Eda Büke; İrken, Gülersu; Ören, Hale

    2015-05-01

    CANDLE syndrome (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature) is a recently described autoinflammatory syndrome characterized by early onset, recurrent fever, skin lesions, and multisystemic inflammatory manifestations. Most of the patients have been shown to have mutation in PSMB8 gene. Herein, we report a 2-year-old patient with young onset recurrent fever, atypical facies, widespread skin lesions, generalized lymphadenopathy, hepatosplenomegaly, joint contractures, hypertrglyceridemia, lipodystrophy, and autoimmune hemolytic anemia. Clinical features together with the skin biopsy findings were consistent with the CANDLE syndrome. The pathogenesis and treatment of this syndrome have not been fully understood. Increased awareness of this recently described syndrome may lead to recognition of new cases and better understanding of its pathogenesis which in turn may help for development of an effective treatment. PMID:25036278

  7. A bivariate quantitative genetic model for a linear Gaussian trait and a survival trait

    Directory of Open Access Journals (Sweden)

    Damgaard Lars

    2005-12-01

    Full Text Available Abstract With the increasing use of survival models in animal breeding to address the genetic aspects of mainly longevity of livestock but also disease traits, the need for methods to infer genetic correlations and to do multivariate evaluations of survival traits and other types of traits has become increasingly important. In this study we derived and implemented a bivariate quantitative genetic model for a linear Gaussian and a survival trait that are genetically and environmentally correlated. For the survival trait, we considered the Weibull log-normal animal frailty model. A Bayesian approach using Gibbs sampling was adopted. Model parameters were inferred from their marginal posterior distributions. The required fully conditional posterior distributions were derived and issues on implementation are discussed. The twoWeibull baseline parameters were updated jointly using a Metropolis-Hastingstep. The remaining model parameters with non-normalized fully conditional distributions were updated univariately using adaptive rejection sampling. Simulation results showed that the estimated marginal posterior distributions covered well and placed high density to the true parameter values used in the simulation of data. In conclusion, the proposed method allows inferring additive genetic and environmental correlations, and doing multivariate genetic evaluation of a linear Gaussian trait and a survival trait.

  8. A bivariate quantitative genetic model for a linear Gaussian trait and a survival trait.

    Science.gov (United States)

    Damgaard, Lars Holm; Korsgaard, Inge Riis

    2006-01-01

    With the increasing use of survival models in animal breeding to address the genetic aspects of mainly longevity of livestock but also disease traits, the need for methods to infer genetic correlations and to do multivariate evaluations of survival traits and other types of traits has become increasingly important. In this study we derived and implemented a bivariate quantitative genetic model for a linear Gaussian and a survival trait that are genetically and environmentally correlated. For the survival trait, we considered the Weibull log-normal animal frailty model. A Bayesian approach using Gibbs sampling was adopted. Model parameters were inferred from their marginal posterior distributions. The required fully conditional posterior distributions were derived and issues on implementation are discussed. The two Weibull baseline parameters were updated jointly using a Metropolis-Hasting step. The remaining model parameters with non-normalized fully conditional distributions were updated univariately using adaptive rejection sampling. Simulation results showed that the estimated marginal posterior distributions covered well and placed high density to the true parameter values used in the simulation of data. In conclusion, the proposed method allows inferring additive genetic and environmental correlations, and doing multivariate genetic evaluation of a linear Gaussian trait and a survival trait.

  9. Quantitative trait locus analysis of multiple agronomic traits in the model legume Lotus japonicus.

    Science.gov (United States)

    Gondo, Takahiro; Sato, Shusei; Okumura, Kenji; Tabata, Satoshi; Akashi, Ryo; Isobe, Sachiko

    2007-07-01

    The first quantitative trait locus (QTL) analysis of multiple agronomic traits in the model legume Lotus japonicus was performed with a population of recombinant inbred lines derived from Miyakojima MG-20 x Gifu B-129. Thirteen agronomic traits were evaluated in 2004 and 2005: traits of vegetative parts (plant height, stem thickness, leaf length, leaf width, plant regrowth, plant shape, and stem color), flowering traits (flowering time and degree), and pod and seed traits (pod length, pod width, seeds per pod, and seed mass). A total of 40 QTLs were detected that explained 5%-69% of total variation. The QTL that explained the most variation was that for stem color, which was detected in the same region of chromosome 2 in both years. Some QTLs were colocated, especially those for pod and seed traits. Seed mass QTLs were located at 5 locations that mapped to the corresponding genomic positions of equivalent QTLs in soybean, pea, chickpea, and mung bean. This study provides fundamental information for breeding of agronomically important legume crops.

  10. Minor physical anomalies in Tourette syndrome

    Directory of Open Access Journals (Sweden)

    Györgyi Csábi

    2008-09-01

    Full Text Available Background and Objectives: The prevalence of minor physical anomalies (prenatal errors of morphogenesis was evaluated in patients with Tourette syndrome to get indirect data on the possible role of aberrant neurodevelopment in the aetiology of Tourette syndrome. No published study is known on the minor physical anomaly prevalence in this recently intensively investigated disorder, and connecting to current opinions on a possible role of aberrant neurodevelopment in Tourette syndrome it seems important to introduce trait marker research focusing on brain maldevelopment. Methods: A scale developed by Méhes1,2 was used to detect the presence or absence of 57 minor physical anomalies in 24 patients with Tourette syndrome and in 24 matched controls 21 boys and 3 girls were evaluated, the age of onset of illness among the Tourette patients was between the age of 5 and 13. Results: The mean value of all minor physical anomalies was significantly higher among the group of patients compared with controls. (Mann - Whitney U - value: 49, 50, -Z = - 4,92, p = 0,001 In the case of 7 minor physical anomalies we could demonstrate statistically significant differences between the Tourette and the control sample. In the case of 4 minor malformations (supernumary nipples, prominent forehead, tongue with smooth and rough spots, double posterior hair whorl and of 3 phenogenetic variants (antimongoloid slant, inner epicanthic folds, high arched palate a significantly higher frequency was observed compared with control individuals. However after Bonferroni correction for the Fisher’s Exact test, only double posterior hair whorl and high arched palate showed a significantly higher frequency compared to control children (p = 0.001. Conclusions: The overrepresentation of minor physical anomalies in Tourette syndrome can strongly support the view that this disorder is related to pathological factors operating early in development.

  11. Two-trait-locus linkage analysis: A powerful strategy for mapping complex genetic traits

    Energy Technology Data Exchange (ETDEWEB)

    Schork, N.J.; Boehnke, M. (Univ. of Michigan, Ann Arbor, MI (United States)); Terwilliger, J.D.; Ott, J. (Columbia Univ., New York, NY (United States))

    1993-11-01

    Nearly all diseases mapped to date follow clear Mendelian, single-locus segregation patterns. In contrast, many common familial diseases such as diabetes, psoriasis, several forms of cancer, and schizophrenia are familial and appear to have a genetic component but do not exhibit simple Mendelian transmission. More complex models are required to explain the genetics of these important diseases. In this paper, the authors explore two-trait-locus, two-marker-locus linkage analysis in which two trait loci are mapped simultaneously to separate genetic markers. The authors compare the utility of this approach to standard one-trait-locus, one-marker-locus linkage analysis with and without allowance for heterogeneity. The authors also compare the utility of the two-trait-locus, two-marker-locus analysis to two-trait-locus, one-marker-locus linkage analysis. For common diseases, pedigrees are often bilineal, with disease genes entering via two or more unrelated pedigree members. Since such pedigrees often are avoided in linkage studies, the authors also investigate the relative information content of unilineal and bilineal pedigrees. For the dominant-or-recessive and threshold models that the authors consider, the authors find that two-trait-locus, two-marker-locus linkage analysis can provide substantially more linkage information, as measured by expected maximum lod score, than standard one-trait-locus, one-marker-locus methods, even allowing for heterogeneity, while, for a dominant-or-dominant generating model, one-locus models that allow for heterogeneity extract essentially as much information as the two-trait-locus methods. For these three models, the authors also find that bilineal pedigrees provide sufficient linkage information to warrant their inclusion in such studies. The authors discuss strategies for assessing the significance of the two linkages assumed in two-trait-locus, two-marker-locus models. 37 refs., 1 fig., 4 tabs.

  12. A genome-wide association study of the metabolic syndrome in Indian Asian men.

    Directory of Open Access Journals (Sweden)

    Delilah Zabaneh

    Full Text Available We conducted a two-stage genome-wide association study to identify common genetic variation altering risk of the metabolic syndrome and related phenotypes in Indian Asian men, who have a high prevalence of these conditions. In Stage 1, approximately 317,000 single nucleotide polymorphisms were genotyped in 2700 individuals, from which 1500 SNPs were selected to be genotyped in a further 2300 individuals. Selection for inclusion in Stage 1 was based on four metabolic syndrome component traits: HDL-cholesterol, plasma glucose and Type 2 diabetes, abdominal obesity measured by waist to hip ratio, and diastolic blood pressure. Association was tested with these four traits and a composite metabolic syndrome phenotype. Four SNPs reaching significance level p0.8 were found in genes CETP and LPL, associated with HDL-cholesterol. These associations have already been reported in Indian Asians and in Europeans. Five additional loci harboured SNPs significant at p0.5 for HDL-cholesterol, type 2 diabetes or diastolic blood pressure. Our results suggest that the primary genetic determinants of metabolic syndrome are the same in Indian Asians as in other populations, despite the higher prevalence. Further, we found little evidence of a common genetic basis for metabolic syndrome traits in our sample of Indian Asian men.

  13. Down syndrome: An overview

    Directory of Open Access Journals (Sweden)

    Samuel Otabor Wajuihian

    2016-03-01

    Full Text Available Optometrists as primary eye care providers examine patients from diverse populations, including those with special needs such as Down syndrome. Down syndrome is a chromosomal abnormality associated with several health conditions including vision anomalies such as refractive, accommodative and vergence anomalies, as well as ocular pathology. In this article, a narrative review of Down syndrome including the background, historical perspective, aetiology and genetic mechanisms, types, epidemiology, as well as the physical and medical profile of Down syndrome is presented.Keywords: Down syndrome review; Trisomy 21; historical perspective; etiology; types and epidemiology; features; Optometrist

  14. Quantitative trait loci for milk production and functional traits in two Danish Cattle breeds

    DEFF Research Database (Denmark)

    Mai, M D; Rychtarova, J; Zink, V;

    2010-01-01

    Quantitative trait loci (QTL) in Danish Jersey and Danish Red cattle were independently mapped by least squares regression analysis. For Jersey breed, five grandsire families were genotyped for 186 markers on 16 chromosomes (BTAs). Eight traits analysed were milk yield (MY), fat percentage (FP......), protein percentage (PP), clinical mastitis (CM), somatic cell score (SCS), maternal stillbirth, maternal calf size (MCS) and maternal calving difficulty. For Red breed, nine grandsire families were genotyped for 166 markers on 18 BTAs. Six traits analysed were MY, FP, PP, CM, SCS and female fertility...

  15. Barth syndrome

    Directory of Open Access Journals (Sweden)

    Clarke Sarah LN

    2013-02-01

    Full Text Available Abstract First described in 1983, Barth syndrome (BTHS is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM, skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA. Fewer than 200 living males are known worldwide, but evidence is accumulating that the disorder is substantially under-diagnosed. Clinical features include variable combinations of the following wide spectrum: dilated cardiomyopathy (DCM, hypertrophic cardiomyopathy (HCM, endocardial fibroelastosis (EFE, left ventricular non-compaction (LVNC, ventricular arrhythmia, sudden cardiac death, prolonged QTc interval, delayed motor milestones, proximal myopathy, lethargy and fatigue, neutropenia (absent to severe; persistent, intermittent or perfectly cyclical, compensatory monocytosis, recurrent bacterial infection, hypoglycaemia, lactic acidosis, growth and pubertal delay, feeding problems, failure to thrive, episodic diarrhoea, characteristic facies, and X-linked family history. Historically regarded as a cardiac disease, BTHS is now considered a multi-system disorder which may be first seen by many different specialists or generalists. Phenotypic breadth and variability present a major challenge to the diagnostician: some children with BTHS have never been neutropenic, whereas others lack increased 3-MGCA and a minority has occult or absent CM. Furthermore, BTHS was first described in 2010 as an unrecognised cause of fetal death. Disabling mutations or deletions of the tafazzin (TAZ gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane. A definitive biochemical test, based on detecting abnormal ratios of different cardiolipin species, was first described in 2008. Key areas of differential diagnosis include metabolic and viral cardiomyopathies, mitochondrial diseases, and many causes of neutropenia and

  16. Hypereosinophilic syndromes

    Directory of Open Access Journals (Sweden)

    Goldman Michel

    2007-09-01

    Full Text Available Abstract Hypereosinophilic syndromes (HES constitute a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia (> 1.5 × 109/L for more than six consecutive months associated with evidence of eosinophil-induced organ damage, where other causes of hypereosinophilia such as allergic, parasitic, and malignant disorders have been excluded. Prevalence is unknown. HES occur most frequently in young to middle-aged patients, but may concern any age group. Male predominance (4–9:1 ratio has been reported in historic series but this is likely to reflect the quasi-exclusive male distribution of a sporadic hematopoietic stem cell mutation found in a recently characterized disease variant. Target-organ damage mediated by eosinophils is highly variable among patients, with involvement of skin, heart, lungs, and central and peripheral nervous systems in more than 50% of cases. Other frequently observed complications include hepato- and/or splenomegaly, eosinophilic gastroenteritis, and coagulation disorders. Recent advances in underlying pathogenesis have established that hypereosinophilia may be due either to primitive involvement of myeloid cells, essentially due to occurrence of an interstitial chromosomal deletion on 4q12 leading to creation of the FIP1L1-PDGFRA fusion gene (F/P+ variant, or to increased interleukin (IL-5 production by a clonally expanded T cell population (lymphocytic variant, most frequently characterized by a CD3-CD4+ phenotype. Diagnosis of HES relies on observation of persistent and marked hypereosinophilia responsible for target-organ damage, and exclusion of underlying causes of hypereosinophilia, including allergic and parasitic disorders, solid and hematological malignancies, Churg-Strauss disease, and HTLV infection. Once these criteria are fulfilled, further testing for eventual pathogenic classification is warranted using appropriate cytogenetic and functional approaches. Therapeutic

  17. Quantitative candidate gene association studies of metabolic traits in Han Chinese type 2 diabetes patients.

    Science.gov (United States)

    Wei, F J; Cai, C Y; Yu, P; Lv, J; Ling, C; Shi, W T; Jiao, H X; Chang, B C; Yang, F H; Tian, Y; Li, M S; Wang, Y H; Zou, L; Shi, J M; Chen, L M; Li, W D

    2015-01-01

    Recent genome-wide association studies have identified many loci associated with type 2 diabetes mellitus (T2DM), hyperuricemia, and obesity in various ethnic populations. However, quantitative traits have been less well investigated in Han Chinese T2DM populations. We investigated the association between candidate gene single nucleotide polymorphisms (SNPs) and metabolic syndrome-related quantitative traits in Han Chinese T2DM subjects. Unrelated Han Chinese T2DM patients (1975) were recruited. Eighty-six SNPs were genotyped and tested for association with quantitative traits including lipid profiles, blood pressure, body mass index (BMI), serum uric acid (SUA), glycated hemoglobin (HbA1c), plasma glucose [fasting plasma glucose (FPG)], plasma glucose 120 min post-OGTT (P2PG; OGTT = oral glucose tolerance test), and insulin resistance-related traits. We found that CAMTA1, ABI2, VHL, KAT2B, PKHD1, ESR1, TOX, SLC30A8, SFI1, and MYH9 polymorphisms were associated with HbA1c, FPG, and/or P2PG; GCK, HHEX, TCF7L2, KCNQ1, and TBX5 polymorphisms were associated with insulin resistance-related traits; ABCG2, SLC2A9, and PKHD1 polymorphisms were associated with SUA; CAMTA1, VHL, KAT2B, PON1, NUB1, SLITRK5, SMAD3, FTO, FANCA, and PCSK2 polymorphisms were associated with blood lipid traits; CAMTA1, SPAG16, TOX, KCNQ1, ACACB, and MYH9 polymorphisms were associated with blood pressure; and UBE2E3, SPAG16, SLC2A9, CDKAL1, CDKN2A/B, TCF7L2, SMAD3, and PNPLA3 polymorphisms were associated with BMI (all P values <0.05). Some of the candidate genes were associated with metabolic and anthropometric traits in T2DM in Han Chinese. Although none of these associations reached genome-wide significance (P < 5 x 10(-8)), genes and loci identified in this study are worthy of further replication and investigation. PMID:26634513

  18. The role of adiposity in cardiometabolic traits: a Mendelian randomization analysis.

    Directory of Open Access Journals (Sweden)

    Tove Fall

    Full Text Available The association between adiposity and cardiometabolic traits is well known from epidemiological studies. Whilst the causal relationship is clear for some of these traits, for others it is not. We aimed to determine whether adiposity is causally related to various cardiometabolic traits using the Mendelian randomization approach.We used the adiposity-associated variant rs9939609 at the FTO locus as an instrumental variable (IV for body mass index (BMI in a Mendelian randomization design. Thirty-six population-based studies of individuals of European descent contributed to the analyses. Age- and sex-adjusted regression models were fitted to test for association between (i rs9939609 and BMI (n  =  198,502, (ii rs9939609 and 24 traits, and (iii BMI and 24 traits. The causal effect of BMI on the outcome measures was quantified by IV estimators. The estimators were compared to the BMI-trait associations derived from the same individuals. In the IV analysis, we demonstrated novel evidence for a causal relationship between adiposity and incident heart failure (hazard ratio, 1.19 per BMI-unit increase; 95% CI, 1.03-1.39 and replicated earlier reports of a causal association with type 2 diabetes, metabolic syndrome, dyslipidemia, and hypertension (odds ratio for IV estimator, 1.1-1.4; all p < 0.05. For quantitative traits, our results provide novel evidence for a causal effect of adiposity on the liver enzymes alanine aminotransferase and gamma-glutamyl transferase and confirm previous reports of a causal effect of adiposity on systolic and diastolic blood pressure, fasting insulin, 2-h post-load glucose from the oral glucose tolerance test, C-reactive protein, triglycerides, and high-density lipoprotein cholesterol levels (all p < 0.05. The estimated causal effects were in agreement with traditional observational measures in all instances except for type 2 diabetes, where the causal estimate was larger than the observational estimate (p  =  0

  19. Poland-Möbius syndrome.

    OpenAIRE

    Parker, D. L.; Mitchell, P. R.; Holmes, G. L.

    1981-01-01

    A patient with stigmata of both the Möbius syndrome and the Poland syndrome is presented. This is now the twelfth well-documented patient with a combination of the two syndromes. The association of the Poland syndrome and the Möbius syndrome occurs with sufficient frequency that the combination probably represents a formal genesis malformation syndrome of unknown aetiology that should be designated the Poland-Möbius syndrome.

  20. Lifelong eccentricity and social isolation. II: Asperger's syndrome or schizoid personality disorder?

    Science.gov (United States)

    Tantam, D

    1988-12-01

    Several scales are described for measuring aspects of eccentricity and social isolation; in particular, for assessing schizoid and schizotypal personality and for rating abnormal non-verbal expression. The latter is shown to be reliable, and the former to have a measure of validity. There was an association between schizoid personality traits and abnormalities of speech and non-verbal expression. However, abnormal non-verbal expression, but not schizoid personality traits or DSM-III schizotypal personality disorder, was particularly likely to occur in those subjects who had evidence of neurological deficit, and childhood symptoms indicative of developmental disorder. Abnormal non-verbal expression, but not personality disorder, was also associated with other characteristic features of Asperger's syndrome, such as unusual, 'special' interests. It is suggested that Asperger's syndrome is a distinct syndrome from either schizoid or schizotypal personality disorder, but may be a risk factor for the development of schizoid personality disorder.

  1. Complex plant traits : time for polygenic analysis

    NARCIS (Netherlands)

    Jansen, Ritsert C.

    1996-01-01

    Currently, mapping of genes for complex traits is an area of active theoretical research at the interface of genetics and statistics. Much progress has been made over the past few years in handling statistically complex but realistic multilocus models. Here, I describe the state of the art and discu

  2. Perverse political correctness and personality traits.

    Science.gov (United States)

    Neduva, Alexander; Kanevsky, Michael; Lerner, Vladimir

    2012-01-01

    Political correctness (PC) commonly refers to a mutual respect for the views and beliefs of others, including enemies, and while differing in opinions, the willfulness to overcome the existing disagreements, and to prevent animosity. To date however, the term PC is sometimes used in a perverted sense aimed for disintegration of solidarity in a society, thus giving birth to a new powerful conceptual tool, the perverse political correctness (PPC). PPC ideology resides in people with certain psychological types. We assume that there are basic psychological variations of personality traits and the mechanisms of their formation that promote not only insertion, but rapid distribution of modern PPC ideology. Although the dimension of their behavior is very similar, the personality traits of these persons can be divided into three groups: The subjects from the first group are characterized by general traits of one's personality, such as kindness, empathy, and humanism. This is true PC--an expression of proper humanistic personality traits, which are developed in a specific kind of environment. The subjects from second group are usually artistic, theatrical, vain and narcissistic, poseurs who need attention at any cost. Their views on life in general, as well as on questions of PC are characterized by colorfulness, picturesqueness and emotional satiety. The subjects from the third group, conjoined with the previous variety of demonstrative-theatrical PC, use mystical and religious contents as part of their propaganda of PPC activity.

  3. Biotechnological interventions to improve plant developmental traits

    Science.gov (United States)

    Developmental traits are coordinated at various levels in a plant and involve organ to organ communications via long distance signaling processes that integrate transcription, hormonal action and environmental cues. Thus, plant architecture, root-soil-microbe interactions, flowering, fruit (and seed...

  4. Birth Order Positions and Personality Traits.

    Science.gov (United States)

    Tharbe, Ida Hartini Ahmad; Harun, Lily Mastura Hj.

    The growing concern for the development of teenagers has brought up issues regarding the role of the family system in shaping the personality traits of children. Alfred Adler (1870-1937), an Austrian psychiatrist who introduced the psychological/therapeutic model, "Individual Psychology," highlighted the importance of birth order positions in…

  5. Heteroscedastic latent trait models for dichotomous data

    NARCIS (Netherlands)

    D. Molenaar

    2014-01-01

    Effort has been devoted to account for heteroscedasticity with respect to observed or latent moderator variables in item or test scores. For instance, in the multi-group generalized linear latent trait model, it could be tested whether the observed (polychoric) covariance matrix differs across the l

  6. Dependency Traits Among Parents of Drug Abusers

    Science.gov (United States)

    Tennant, Forest S., Jr.

    1976-01-01

    Studies question whether there is a significant association between parents' dependency traits and drug habits in their offspring. Reported here is a survey of 1,091 young males. The reported occurrence of parents' alcohol consumption, smoking, use of stimulants and sedatives, and overeating were compared among abusers and non-users of hashish,…

  7. Animal models of eating disorder traits

    NARCIS (Netherlands)

    Kas, Martien J H; Adan, Roger A H

    2011-01-01

    Eating disorders, such as anorexia and bulimia nervosa, are psychiatric disorders that are likely determined by a complex interaction between genetic variations, developmental processes, and certain life events. Cross-species analysis of traits related to eating disorders may provide a way to functi

  8. Characterizing psychopathy using DSM-5 personality traits.

    Science.gov (United States)

    Strickland, Casey M; Drislane, Laura E; Lucy, Megan; Krueger, Robert F; Patrick, Christopher J

    2013-06-01

    Despite its importance historically and contemporarily, psychopathy is not recognized in the current Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revised (DSM-IV-TR). Its closest counterpart, antisocial personality disorder, includes strong representation of behavioral deviance symptoms but weak representation of affective-interpersonal features considered central to psychopathy. The current study evaluated the extent to which psychopathy and its distinctive facets, indexed by the Triarchic Psychopathy Measure, can be assessed effectively using traits from the dimensional model of personality pathology developed for DSM-5, operationalized by the Personality Inventory for DSM-5 (PID-5). Results indicate that (a) facets of psychopathy entailing impulsive externalization and callous aggression are well-represented by traits from the PID-5 considered relevant to antisocial personality disorder, and (b) the boldness facet of psychopathy can be effectively captured using additional PID-5 traits. These findings provide evidence that the dimensional model of personality pathology embodied in the PID-5 provides effective trait-based coverage of psychopathy and its facets.

  9. Transmission-disequilibrium tests for quantitative traits

    Energy Technology Data Exchange (ETDEWEB)

    Allison, D.B. [Columbia Univ. College of Physicians and Surgeons, New York, NY (United States)

    1997-03-01

    The transmission-disequilibrium test (TDT) of Spielman et al. is a family-based linkage-disequilibrium test that offers a powerful way to test for linkage between alleles and phenotypes that is either causal (i.e., the marker locus is the disease/trait allele) or due to linkage disequilibrium. The TDT is equivalent to a randomized experiment and, therefore, is resistant to confounding. When the marker is extremely close to the disease locus or is the disease locus itself, tests such as the TDT can be far more powerful than conventional linkage tests. To date, the TDT and most other family-based association tests have been applied only to dichotomous traits. This paper develops five TDT-type tests for use with quantitative traits. These tests accommodate either unselected sampling or sampling based on selection of phenotypically extreme offspring. Power calculations are provided and show that, when a candidate gene is available (1) these TDT-type tests are at least an order of magnitude more efficient than two common sib-pair tests of linkage; (2) extreme sampling results in substantial increases in power; and (3) if the most extreme 20% of the phenotypic distribution is selectively sampled, across a wide variety of plausible genetic models, quantitative-trait loci explaining as little as 5% of the phenotypic variation can be detected at the .0001 a level with <300 observations. 57 refs., 2 figs., 5 tabs.

  10. Interval Mapping of Multiple Quantitative Trait Loci

    NARCIS (Netherlands)

    Jansen, Ritsert C.

    1993-01-01

    The interval mapping method is widely used for the mapping of quantitative trait loci (QTLs) in segregating generations derived from crosses between inbred lines. The efficiency of detecting and the accuracy of mapping multiple QTLs by using genetic markers are much increased by employing multiple Q

  11. The Economics and Psychology of Personality Traits

    Science.gov (United States)

    Borghans, Lex; Duckworth, Angela Lee; Heckman, James J.; ter Weel, Bas

    2008-01-01

    This paper explores the interface between personality psychology and economics. We examine the predictive power of personality and the stability of personality traits over the life cycle. We develop simple analytical frameworks for interpreting the evidence in personality psychology and suggest promising avenues for future research. The paper…

  12. The Economics and Psychology of Personality Traits

    OpenAIRE

    Borghans, Lex; Duckworth, Angela Lee; Heckman, James J.; ter Weel, Bas

    2008-01-01

    This paper explores the interface between personality psychology and economics. We examine the predictive power of personality and the stability of personality traits over the life cycle. We develop simple analytical frameworks for interpreting the evidence in personality psychology and suggest promising avenues for future research.

  13. The Economics and Psychology of Personality Traits

    OpenAIRE

    Borghans Lex; Lee Duckworth Angela; Heckman James J.; Weel Bas ter

    2008-01-01

    This paper explores the interface between personality psychology andeconomics. We examine the predictive power of personality and the stability ofpersonality traits over the life cycle. We develop simple analytical frameworksfor interpreting the evidence in personality psychology and suggest promisingavenues for future research.

  14. The economics and psychology of personality traits

    OpenAIRE

    Borghans, L.; Angela Lee Duckworth; Heckman, James J.; Bas Ter Weel

    2008-01-01

    This paper explores the interface between personality psychology and economics. We examine the predictive power of personality and the stability of personality traits over the life cycle. We develop simple analytical frameworks for interpreting the evidence in personality psychology and suggest promising avenues for future research.

  15. The trait-coverage of emotional intelligence

    NARCIS (Netherlands)

    De Raad, B

    2005-01-01

    In this paper it is explored to what extent emotional intelligence can be expressed in terms of a standard trait model. Two studies were performed. In Study 1 a total of 437 items from several emotional intelligence questionnaires were used. The items were classified into the categories comprised by

  16. Multi-ethnic studies in complex traits

    NARCIS (Netherlands)

    Fu, Jingyuan; Festen, Eleonora A. M.; Wijmenga, Cisca

    2011-01-01

    The successes of genome-wide association (GWA) studies have mainly come from studies performed in populations of European descent. Since complex traits are characterized by marked genetic heterogeneity, the findings so far may provide an incomplete picture of the genetic architecture of complex trai

  17. A Genetic Epidemiological Study of Behavioral Traits

    NARCIS (Netherlands)

    N. Amin (Najaf)

    2011-01-01

    textabstractHuman behavioural genetics aims to unravel the genetic and environmental contributions to variations in human behaviour. Behaviour is a complex trait, involving multiple genes that are affected by a variety of other factors. Genetic epidemiological research of behaviour goes back to Sir

  18. Contributions to an animal trait ontology

    NARCIS (Netherlands)

    Hulsegge, B.; Smits, M.A.; Pas, te M.F.W.; Woelders, H.

    2012-01-01

    Improved understanding of the biology of traits of livestock species necessitates the use and combination of information that is stored in a variety of different sources such as databases and literature. The ability to effectively combine information from different sources, however, depends on a hig

  19. Trait diversity promotes stability of community dynamics

    DEFF Research Database (Denmark)

    Zhang, Lai; Thygesen, Uffe Høgsbro; Knudsen, Kim;

    2013-01-01

    The theoretical exploration of how diversity influences stability has traditionally been approached by species-centric methods. Here we offer an alternative approach to the diversity–stability problem by examining the stability and dynamics of size and trait distributions of individuals. The anal...

  20. Body linear traits for identifying prolific goats

    Directory of Open Access Journals (Sweden)

    Avijit Haldar

    2014-12-01

    Full Text Available Aim: The present study was conducted on prolific goat breed to identify body linear type traits that might be associated with prolificacy trait in goats. Materials and Methods: Two-stage stratified random sample survey based data were collected from 1427 non-pregnant goats with the history of single, twin and triplet litter sizes (LZ between January 2008 to February 2011 for 3 years in 68 villages located in East and North East India. Data on sixteen body linear traits were analyzed using logistic regression model to do the step-wise selection for identifying the body linear traits that could determine LZ. An average value for each identified body linear trait was determined for classifying the goats into three categories: Goats having the history of single LZ, goats having the history of twin LZ and goats having the history of triplet LZ. Results: The LZ proportions for single, twin and triplet, were 29.50, 59.14 and 11.36%, respectively, with the prolificacy rate of 181.85% in Indian Black Bengal goats. A total of eight body linear traits that could determine LZ in prolific goats were identified. Heart girth (HG measurement (>60.90 cm, paunch girth (PG (>70.22 cm, wither height (WH (>49.75 cm, neck length (>21.45 cm, ear length (>12.80 cm and distance between trochanter major (DTM bones (>12.28 cm, pelvic triangle area (PTA (>572.25 cm2 and clearance at udder (CU (>23.16 cm showed an increase likelihood of multiple LZ when compared to single LZ. Further, HG measurement (>62.29 cm, WH (>50.54 cm, PG (>71.85 cm and ear length (>13.00 cm, neck length (>22.01 cm, PTA (>589.64 cm2, CU (>23.20 cm and DTM bones (>12.47 cm were associated with increased likelihood of triplet LZ, when compared with that of twin LZ. Conclusion: HG measurement was the best discriminating factor, while PG, neck length, DTM bones, CU, PTA, WH and ear length measurements were other important factors that could be used for identifying prolific goats to achieve economic