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Sample records for brugada syndrome traits

  1. Brugada Syndrome

    Science.gov (United States)

    ... to look at your heart's electrical activity (electrophysiology study), you'll need to fast for eight to 12 hours before your test. Write down any symptoms you're experiencing, including any that may seem unrelated to Brugada syndrome. Write down key personal information, especially any family ...

  2. 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.

  3. Genetics Home Reference: Brugada syndrome

    Science.gov (United States)

    ... rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome. Hum Mol ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  4. Brugada syndrome unmasked by fever.

    Science.gov (United States)

    Grogan, Scott P; Cube, Regino P; Edwards, John A

    2011-08-01

    Brugada syndrome (BS) is a cardiac rhythm disturbance that predisposes patients to sudden cardiac death. Brugada is classically described with specific electrocardiographic (EKG) findings of ST elevation and right bundle branch block in precordial leads and is an often unrecognized contributor to sudden cardiac death. We present a case of BS with cyclic EKG findings in a febrile 20-year-old active duty, Vietnamese male who presented following a witnessed syncopal event. His classic findings of Brugada pattern on EKG demonstrated reversibility with clinical defervescence. In patients with a suggestive history, a normal EKG cannot definitively rule out BS as the Brugada pattern can be unmasked by stress, which in this case was represented by a pneumonia-induced fever.

  5. 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...

  6. 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.

  7. Brugada syndrome masquerading as febrile seizures.

    Science.gov (United States)

    Skinner, Jonathan Robert; Chung, Seo-Kyung; Nel, Carey-Anne; Shelling, Andrew Neil; Crawford, Jackie Robyn; McKenzie, Neil; Pinnock, Ralph; French, John Kerswell; Rees, Mark Ian

    2007-05-01

    Fever can precipitate ventricular tachycardia in adults with Brugada syndrome, but such a link has not been reported in children. A 21-month-old white girl presented repeatedly with decreased conscious level and seizures during fever. During a typical episode, rapid ventricular tachycardia was documented. The resting 12-lead electrocardiogram revealed a Brugada electrocardiogram signature. Resting electrocardiograms of the asymptomatic brother and mother were normal, but fever in the mother and pharmacologic stress with ajmaline in the brother revealed Brugada electrocardiogram features. Genetic testing revealed an SCN5A mutation in the affected family members.

  8. First clinical manifestation of Brugada syndrome during pregnancy.

    Science.gov (United States)

    Prochnau, Dirk; Figulla, Hans R; Surber, Ralf

    2013-09-01

    The role of hormonal changes during pregnancy in Brugada syndrome is unknown. Only rare case reports of Brugada syndrome during pregnancy have been published. In this article, we describe a patient with first clinical manifestation of Brugada syndrome during pregnancy. The definitive diagnosis could only be achieved by drug challenge with ajmaline after childbirth because the spontaneous typical Brugada-like pattern was absent. Elevated hormone levels during pregnancy may increase the risk for arrhythmias in particular cases.

  9. 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

  10. BRUGADA SYNDROME-A CASE REPORT

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    Kuževska-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.

  11. 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.

  12. Brugada Syndrome with atypical characteristics: Case report

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    Hatem Ari

    2013-09-01

    Full Text Available The Brugada Syndrome (BrS is a heterogeneous genetic disease characterized by persistent or transient ST-segment elevation in the right precordial electrocardiography (ECG leads and a high incidence of sudden death and life-threatening ventricular tachyarrhythmias in patients with structurally normal hearts. The syndrome generally manifests in men during adulthood. The ECG manifestations can be overt or concealed. We report a case of BrS whose type 1 ECG pattern during febrile state converted to type 2 ECG after alleviation of fever with atypical characteristics (78-year-old woman with monomorphic ventricular tachycardia on holter monitoring, a history of the sudden infant death of her child, and without inducible ventricular arrhythmia by programed ventricular stimulation [PVS].

  13. 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...

  14. Brugada syndrome in a patient with accessory pathway.

    Science.gov (United States)

    Bodegas, A I; Arana, J I; Vitoria, Y; Arriandiaga, J R; Barrenetxea, J I

    2002-01-01

    Brugada syndrome in a patient with Wolff-Parkinson-White syndrome. We report a 32-year-old man with orthodromic atrioventricular (AV) reciprocating tachycardia using a right posterior accessory pathway. However, his ECG showed ST segment elevation in leads V1 to V3. After successful radiofrequency ablation of his accessory pathway a cardioverter defibrillator was implanted.

  15. Brugada syndrome during physical therapy : a case report

    NARCIS (Netherlands)

    Frolke, J.P.M.; Bruggeman, A.W.A.; Klomp, F.P.; Smeets, J.L.R.M.

    2008-01-01

    ABSTRACT: This case report describes about a young, male patient with persisting syncope during physical therapy for complex regional pain syndrome type 1 after metatarsal fractures. The patient was referred to the Emergency Department, where Brugada syndrome was diagnosed. A cardioverter defibrilla

  16. Large Genomic Imbalances in Brugada Syndrome

    Science.gov (United States)

    Riuró, Helena; Mates, Jesus; Pérez-Serra, Alexandra; Coll, Mònica; Porres, José Manuel; del Olmo, Bernat; Iglesias, Anna; Selga, Elisabet; Picó, Ferran; Pagans, Sara; Ferrer-Costa, Carles; Sarquella-Brugada, Geòrgia; Arbelo, Elena; Cesar, Sergi; Brugada, Josep; Campuzano, Óscar; Brugada, Ramon

    2016-01-01

    Purpose Brugada syndrome (BrS) is a form of cardiac arrhythmia which may lead to sudden cardiac death. The recommended genetic testing (direct sequencing of SCN5A) uncovers disease-causing SNVs and/or indels in ~20% of cases. Limited information exists about the frequency of copy number variants (CNVs) in SCN5A in BrS patients, and the role of CNVs in BrS-minor genes is a completely unexplored field. Methods 220 BrS patients with negative genetic results were studied to detect CNVs in SCN5A. 63 cases were also screened for CNVs in BrS-minor genes. Studies were performed by Multiplex ligation-dependent probe amplification or Next-Generation Sequencing (NGS). Results The detection rate for CNVs in SCN5A was 0.45% (1/220). The detected imbalance consisted of a duplication from exon 15 to exon 28, and could potentially explain the BrS phenotype. No CNVs were found in BrS-minor genes. Conclusion CNVs in current BrS-related genes are uncommon among BrS patients. However, as these rearrangements may underlie a portion of cases and they undergo unnoticed by traditional sequencing, an appealing alternative to conventional studies in these patients could be targeted NGS, including in a single experiment the study of SNVs, indels and CNVs in all the known BrS-related genes. PMID:27684715

  17. 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.

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

    Institute of Scientific and Technical Information of China (English)

    孙振晓; 于相芬

    2015-01-01

    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.%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。

  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...... associated with BrS was lower in AF patients than in patients free of AF, suggesting a protective role of these loci in developing AF.European Journal of Human Genetics advance online publication, 26 March 2014; doi:10.1038/ejhg.2014.46....

  20. Brugada syndrome: a case report of an unusual association with vasospastic angina and coronary myocardial bridging.

    Science.gov (United States)

    Imazio, Massimo; Ghisio, Aldo; Coda, Luisella; Tidu, Massimo; Belli, Riccardo; Trinchero, Rita; Brusca, Antonio

    2002-04-01

    This report describes a case of an unusual association between vasospastic angina, coronary myocardial bridging, and Brugada syndrome. The patient complained of chest pain followed by rhythmic palpitation and syncope. Brugada syndrome ECG markers were documented with transient ST-segment elevation in lateral leads. A coronary angiogram showed a myocardial bridging in the left anterior descending artery and coronary vasospasm was reproduced after intracoronary ergonovine injection in the circumflex coronary artery. Ventricular fibrillation was induced by programmed electrical stimulation. The described association can be important because interaction between ischemia and Brugada syndrome electrophysiological substrate could modulate individual susceptibility to life-threatening ventricular tachyarrhythmias.

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

  2. 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.

  3. 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,

  4. Douleur thoracique aiguë révélant un syndrome de Brugada

    Science.gov (United States)

    Daniella, Rakotoniaina Masinarivo; Anjaramalala, Rasolonjatovo; Ramiandrisoa; Freddie, Raveloson; Solofonirina, Rakotoarimanana; Nirina, Rabearivony

    2016-01-01

    Nous rapportons un cas dans le but d’évaluer le diagnostic électrocardiographique d’un syndrome de Brugada. Il s’agissait d’un homme de 43 ans, d’origine Indienne, qui était venu en consultation pour douleur thoracique aigue. Il était hypertendu grade II non traité et il avait un antécédent de mort subite familial (le père à l’âge de 40 ans). Son ECG montrait un aspect de bloc de branche incomplet droit avec sus décalage descendant du segment ST, avec aspect en dôme au niveau précordial droit et la coronarographie était normale, ce qui nous a permis de poser le diagnostic de syndrome de Brugada de type I. Le patient a pu bénéficier d’une pose de défibrillateur automatique implantable à la Réunion et d’un suivi régulier. PMID:28292058

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

    Directory of Open Access Journals (Sweden)

    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.

  6. Electrical storm in the brain and in the heart: epilepsy and Brugada syndrome.

    Science.gov (United States)

    Sandorfi, Gabor; Clemens, Bela; Csanadi, Zoltan

    2013-10-01

    We describe a patient with the coincidence of 2 ion channel disorders with autosomal dominant inheritance: Brugada syndrome, a potentially fatal cardiac condition, and cryptogenic focal epilepsy, likely due to a neurologic channelopathy. Although Brugada syndrome was discovered incidentally, most of the clinical features of epilepsy in this patient shared the risk factor characteristics of sudden unexplained death in epilepsy syndrome. This case provides additional information on the potential interaction between ion channel abnormalities in the heart and in the brain. Furthermore, it may suggest that patients with epilepsy at increased risk for sudden unexplained death in epilepsy syndrome should undergo a careful cardiac evaluation.

  7. 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.

  8. 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.

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

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    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.

  10. 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.

  11. 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

  12. 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

  13. 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

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

    Directory of Open Access Journals (Sweden)

    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.

  15. Brugada Syndrome ECG Is Highly Prevalent in Schizophrenia

    NARCIS (Netherlands)

    Blom, Marieke T.; Cohen, Dan; Seldenrijk, Adrie; Penninx, Brenda W. J. H.; Nijpels, Giel; Stehouwer, Coen D. A.; Dekker, Jacqueline M.; Tan, Hanno L.

    2014-01-01

    Background The causes of increased risk of sudden cardiac death in schizophrenia are not resolved. We aimed to establish (1) whether ECG markers of sudden cardiac death risk, in particular Brugada-ECG pattern, are more prevalent among patients with schizophrenia, and (2) whether increased prevalence

  16. 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......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 Brugada syndrome. We found novel mutations in SCN5A in 2 different families diagnosed with Brugada syndrome and investigated how those affected Na(V)1.5 channel function....

  17. Brugada syndrome and right ventricle morphofunctional abnormalities on echocardiography in young male with family anamnesis of sudden cardiac death.

    Science.gov (United States)

    Steiner, Robert; Makarovic, Sandra; Makarovic, Zorin; Bilic-Curcic, Ines

    2014-03-01

    First presented by Brugada and Brugada in 1992, Brugada Syndrome (BrS) is a primary electrical disease of the heart that causes sudden cardiac death or life-threatening ventricular arrhythmias. This disease is hereditary autosomic dominant transmitted and genetically determined. The syndrome has been linked to mutations in SCN5A, the gene encoding for the a-subunit of the sodium channel. Electrocardiogram (ECG) abnormalities indicating Brugada syndrome, include repolarization and depolarization abnormalities in the absence of identifiable structural cardiac abnormalities or other conditions or agents known to lead to ST-segment elevation in the right precordial leads (V1-V3). Intravenous administration of sodium channel blocking drugs may modify the ECG pattern. Ajmaline, flecainide, procainamide and propafenone exaggerate the ST-segment elevation or unmask it when it is initially absent. An implantable cardioverter-defibrillator (ICD) is the only proven effective device treatment for the disease. Although BrS is primary electrical disease, some authors have suggested the presence of morphological and functional abnormalities mainly located in the right ventricle (RV), notably in the outflow tract (RVOT). In this short report we will present a young male, with predisposition and positive family history of sudden cardiac death, with complete diagnostic procedure including propafenon testing unmasking Brugada syndrome. An echosonography revealed dilated apical right ventricle, suggesting BrS is not only electrical disorder, but may include morphofunctional abnormalities, described in previous reports. In addition, we reviewed the possible connection between Brugada syndrome and morphological abnormalities in RV.

  18. Brugada综合征研究进展%Research progress of Brugada syndrome

    Institute of Scientific and Technical Information of China (English)

    李俊强; 王国林; 宁金民

    2016-01-01

    Brugada综合征是一种有遗传倾向的以恶性心律失常为主要表现的综合征,由于编码心脏Na离子通道的基因(SCN5A)突变而发病。1992年Brugada兄弟描述其特征性心电图表现,之后发现该疾病又有夜间猝死这一凶险的预后,因此一直是心血管疾病基础和临床研究领域内的一大前沿和焦点。本文就BS的流行病学、遗传基础及细胞学机制和心电图特征等方面最新研究进展作一综述。%Brugada syndrome is a syndrome characterized by a genetic predisposition to malignant arrhythmia , which is due to mutations in the gene (SCN5A) of the cardiac Na ion channel. 1992 Brugada brothers describe the characteristics of electrocardiogram (ECG) and found that the disease has a danger of sudden death at night. So it has been a major focus of frontier and basic clinical research within the field of cardiovascular disease. This paper reviewed the latest research progress of the epidemiology, genetic basis, and the characteristics of ECG of Brugada syndrome.

  19. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Science.gov (United States)

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

    2014-09-01

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

  3. 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...

  4. The importance of class-I antiarrhythmic drug test in the evaluation of patients with syncope: unmasking Brugada syndrome.

    NARCIS (Netherlands)

    Roos, M.; Sarkozy, A.; Brodbeck, J.; Henkens, S.; Chierchia, G.B.; Asmundis, C. de; Capulzini, L.; Muller-Burri, S.A.; Yakazi, Y.; Brugada, P.

    2012-01-01

    INTRODUCTION: The Brugada syndrome (BrS) can first present with syncope. Class-I antiarrhythmic drug (AAD) test is used to unmask the diagnostic coved-type ECG pattern in case it is not spontaneously present. The aim of the study was to analyze patients with BrS presenting with syncope as first mani

  5. Molecular biology and cellular mechanisms of Brugada and long QT syndromes in infants and young children.

    Science.gov (United States)

    Antzelevitch, C

    2001-01-01

    Sudden cardiac death accounts for 19% of sudden deaths in children between 1 and 13 years of age and 30% of sudden deaths that occur between 14 and 21 years of age. The incidence of sudden cardiac death displays 2 peaks: one between 45 and 75 years of age, as a result of coronary artery disease, and the other between birth and 6 months of age, caused by sudden infant death syndrome. The role of cardiac arrhythmias in sudden infant death syndrome has long been a matter of debate and the role of cardiac arrhythmias in children in general is not well defined. Recent findings point to a contribution of primary electrical diseases of the heart including the Brugada and long QT syndromes to sudden death in infants and children. Mutations in SCN5A and HERG and KvLQT1 have been shown to be associated with life-threatening arrhythmias and long QT intervals in young infants. These mutations cause changes in sodium and potassium currents that amplify intrinsic electrical heterogeneities within the heart, thus providing a substrate as well as a trigger for the development of reentrant arrhythmias, including Torsade de Pointes (TdP), commonly associated with the long QT syndrome (LQTS). Mutations in SCN5A have also been shown to cause the sodium channel to turn off prematurely and thus to set the stage for the development of a rapid polymorphic ventricular tachycardia/ventricular fibrillation in patients with the Brugada Syndrome. In LQTS, ion channel mutations cause a preferential prolongation of the M cell action potential that contributes to the development of long QT intervals, wide-based or notched T waves, and a large transmural dispersion of repolarization, which provides the substrate for the development of TdP. An early afterdepolarization-induced triggered beat is thought to provide the extrasystole that precipitates TdP. In the Brugada syndrome, mutations in SCN5A reduce sodium current density, causing premature repolarization of the epicardial action potential due

  6. 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

  7. 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

    and fibrillation. Case Report A 49-year-old previously healthy man was admitted with electrical storm. The patient received direct current (DC) cardioversion shocks and only after intravenous lidocaine did the electrical storm slowly subside with a total of 255 DC shocks administered during the first 24 h after......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...... admission. He fully recovered and received an implantable cardioverter-defibrillator. Subsequent drug challenge with flecainide revealed type 1 BrS. Conclusions Massive electrical storm can be the first symptom of BrS and the diagnostic ECG changes may be concealed at presentation. Although hundreds of DC...

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

    Directory of Open Access Journals (Sweden)

    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

  9. 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.

  10. The Brugada syndrome mutation A39V does not affect surface expression of neuronal rat Cav1.2 channels

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    Simms Brett A

    2012-03-01

    Full Text Available Abstract Background A loss of function of the L-type calcium channel, Cav1.2, results in a cardiac specific disease known as Brugada syndrome. Although many Brugada syndrome channelopathies reduce channel function, one point mutation in the N-terminus of Cav1.2 (A39V has been shown to elicit disease a phenotype because of a loss of surface trafficking of the channel. This lack of cell membrane expression could not be rescued by the trafficking chaperone Cavβ. Findings We report that despite the striking loss of trafficking described previously in the cardiac Cav1.2 channel, the A39V mutation while in the background of the brain isoform traffics and functions normally. We detected no differences in biophysical properties between wild type Cav1.2 and A39V-Cav1.2 in the presence of either a cardiac (Cavβ2b, or a neuronal beta subunit (Cavβ1b. In addition, the A39V-Cav1.2 mutant showed a normal Cavβ2b mediated increase in surface expression in tsA-201 cells. Conclusions The Brugada syndrome mutation A39V when introduced into rat brain Cav1.2 does not trigger the loss-of-trafficking phenotype seen in a previous study on the human heart isoform of the channel.

  11. 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

    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...... 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...... that the faster current decay results in a loss-of-function responsible for the Brugada phenotype...

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

    DEFF Research Database (Denmark)

    Risgaard, Bjarke; Bundgaard, Henning; Jabbari, Reza

    2013-01-01

    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......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...

  13. 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.

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

    OpenAIRE

    2013-01-01

    Brugada syndrome is a rare cardiac arrhythmia disorder, causally related to SCN5A mutations in around 20% of cases1–3. 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 SC...

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

    Directory of Open Access Journals (Sweden)

    Yoshiyasu Aizawa

    2010-08-01

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

  16. Electrophysiological mechanisms of Brugada syndrome: insights from pre-clinical and clinical studies

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    Gary Tse

    2016-10-01

    Full Text Available Brugada syndrome (BrS, is a primary electrical disorder predisposing affected individuals to sudden cardiac death via the development of ventricular tachycardia and fibrillation (VT/VF. Originally, BrS was linked to mutations in the SCN5A, which encodes for the cardiac Na+ channel. To date, variants in 19 genes have been implicated in this condition, with 11, 5, 3 and 1 genes affecting the Na+, K+, Ca2+ and funny currents, respectively. Diagnosis of BrS is based on ECG criteria of coved- or saddle-shaped ST segment elevation and/or T-wave inversion with or without drug challenge. Three hypotheses based on abnormal depolarization, abnormal repolarization and current-load-mismatch have been put forward to explain the electrophysiological mechanisms responsible for BrS. Evidence from computational modelling, pre-clinical and clinical studies illustrates that molecular abnormalities found in BrS lead to alterations in excitation wavelength (λ, which ultimately elevates arrhythmic risk. A major challenge for clinicians in managing this condition is the difficulty in predicting the subset of patients who will suffer from life-threatening VT/VF. Several repolarization risk markers have been used thus far, but these neglect the contributions of conduction abnormalities in the form of slowing and dispersion. Indices incorporating both repolarization and conduction and based on the concept of λ have recently been proposed. These may have better predictive values than the existing markers. Current treatment options are pharmacotherapy to reduce the occurrence of VT/VF or to abort these episodes, and interventions include implantable cardioverter-defibrillator insertion or radiofrequency ablation of abnormal arrhythmic substrate.

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

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    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.

  18. 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...

  19. 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.

  20. 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.

  1. De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome

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    Lumin Wang

    2015-07-01

    Full Text Available Background: Brugada syndrome (BrS is a genetically determined cardiac electrical disorder, characterized by typical electrocardiography (ECG alterations, and it is an arrhythmogenic syndrome that may lead to sudden cardiac death. The most common genotype found among BrS patients is caused by mutations in the SCN5A gene, which lead to a loss of function of the cardiac sodium (Na+ channel (Nav1.5 by different mechanisms. Methods: The assay of confocal laser microscopy and western blot were used to identify the expression and location of L812Q at the cell surface. Characterization of Nav1.5 L812Q mutant Na+ channels was text by patch-clamp recordings, and the PHYRE2 server was used to build a model for human Nav1.5 channel. Results: Here, we report that a novel missense SCN5A mutation, L812Q, localized in the DII-S4 transmembrane region of the Nav1.5 channel protein, was identified in an index patient who showed a typical BrS type-1 ECG phenotype. The mutation was absent in the patient's parents and brother. Heterologous expression of the wild-type (WT and L812Q mutant Nav1.5 channels in human embryonic kidney cells (HEK293 cells reveals that the mutation results in a reduction of Na+ current density as well as ∼20 mV hyperpolarizing shift of the voltage dependence of inactivation. The voltage dependence of activation and the time course for recovery from inactivation are not affected by the mutation. The hyperpolarizing shift of the voltage dependence of inactivation caused a reduction of the Na+ window current as well. In addition, western blot and confocal laser microscopy imaging experiments showed that the mutation causes fewer channel to be expressed at the membrane than WT channel. A large proportion of the mutant channels are retained in the cytoplasm, probably in the endoplasmic reticulum. Conclusion: The decrease of channel expression, hyperpolarizing shift of voltage dependence of inactivation, and a decline of Na+ window current

  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

    BACKGROUND: Mutations in SCN5A can result in both long QT type 3 (LQT3) and Brugada syndrome (BrS), and a few mutations have been found to have an overlapping phenotype. Long QT syndrome is characterized by prolonged QT interval, and a prerequisite for a BrS diagnosis is ST elevation in the right......: The L1786Q mutation is associated with a combined LQT3 and concealed BrS phenotype explained by gating characteristics of the mutated ion channel protein. Hence, sodium channel blockade should be considered in clinical evaluation of apparent LQT3 patients....

  3. 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

  4. Brugada综合征致病关联基因突变研究进展%Research progression on genetic mutations associated with Brugada syndrome

    Institute of Scientific and Technical Information of China (English)

    高娟; 白亚娜; 程宁; 胡晓斌

    2011-01-01

    Brugada syndrome is a hereditary disease. 10 genes have been associated with Brugada syndrome, which respectively encodes sodium ion channel, calcium ion channel and potassium ion channel proteins. SCN5A, GPD1L, SCN1B and SCN3B are genes of the sodium ion channel. These genes of CACNA1C, CACNB2, CACNA2D1 encode the protein of calcium ion channel. These genes of HCN4, KCNE3 and KCNH2 encode the protein of potassium ion channel. The research progression on genetic mutations of Brugada syndrome are reviewed.%Brugada综合征是一种遗传性心脏病,目前已发现10种导致Brugada综合征的致病基因,分为编码钠离子通道、钙离子通道和钾离子通道蛋白的基因.编码钠离子通道的基因有SCN5A基因、GPD1L基因、SCN1B基因、SCN3B基因;编码钙离子通道的基因有CACNA1C基因、CACNB2基因、CACNA2D1基因;编码钾离子通道的基因有HCN4基因、KCNE3基因和KCNH2基因.

  5. Single nucleotide polymorphisms of the SCN5A gene in Han Chinese and their relation with Brugada syndrome

    Institute of Scientific and Technical Information of China (English)

    陈君柱; 谢旭东; 王兴祥; 陶明; 尚云鹏; 郭晓钢

    2004-01-01

    Background Mutations in the cardiac sodium channel gene (SCN5A) may lead to a broad spectrum of familial arrhythmias, including long QT syndrome (LQTS), idiopathic ventricular fibrillation (IVF), and isolated cardiac conduction diseases. Recent studies have shown that polymorphisms in the SCN5A gene also play an important role in the manifestation of disorders involving cardiac excitability. In this study, we investigated the polymorphisms of the SCN5A gene in Han Chinese and its relation to Brugada syndrome (BS).Methods Genomic DNA was isolated from 120 unrelated healthy volunteers and 48 unrelated Brugada syndrome patients by means of standard procedures. All exons including the putative splicing sites of the SCN5A gene were amplified by PCR and sequenced directly or after subcloning using an ABI Prism 377 DNA sequencer. Results A total of 5 single nucleotide polymorphisms (SNPs) were identified in the Han Chinese population, including 3 novel ones: G87A(A29A), 4245+82A>G, and G6174A. The allele frequencies of each SNP in the Han Chinese population were as follows: G87A (A29A) 27.5%, A1673G (H558R) 10.4%, 4245+82A>G 32.8%, C5457T (D1819D) 41.3%, and G6174A 44.9%. S1102Y and 10 other SNPs identified in other ethnic populations were not detected in this study. There was no significant difference in the allele frequency of A1673G (H558R) between different ethnic populations (all P>0.5). On the other hand, the allele frequency of C5457T (D1819D) among Han Chinese was similar to its frequency among Japanese (P>0.5), but higher than that among Americans (P<0.005). The allele G1673 (R558) was over-represented in BS patients compared to controls (P<0.005), but there was no significant difference in genotype frequencies at this locus. There were also no differences in either the allele or genotype frequencies of the 4 other identified SNPs when comparing BS patients with healthy controls. Conclusions The distribution of SCN5A SNPs may vary between different ethnicities

  6. Novel Nucleotide Changes in Mitochondrial COXII, Cytochrome B and tRNAGlu Genes in Patients with Brugada Syndrome

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    M Khatami

    2014-04-01

    Full Text Available Introduction: The Brugada syndrome (BrS belongs to cardiac arrhythmia disorders that is seen on the echocardiogram bands and is a significant cause of sudden death in young adults. At the molecular level, mechanisms that contribute to BrS are mutations in genes that encode for ion channels. It has been reported that the activity of ion channels in cardiomyocytes is sensitive to ATP level. This study aimed to clarify the relationship between variations in mtDNA and the development of BrS. Methods: single strand conformation polymorphism (SSCP was used for rapid screening of mtDNA mutations in CoxII, Cytb and tRNAGlu genes in a family with 5 patients and 15 sporadic patients. DNA fragments showing abnormal banding patterns were sequenced for identification of exact mutations. Results: One new mutation (T8258C was found in Cox II gene in family members that caused to change phenylalanine amino acid to leucine. In sporadic patients, three different new mutations were also found including a homoplasmic mutation (T14687C in tRNAGlu gene, a heteroplasmic mutation (G14838A and a homoplasmic C14766T mutation. Conclusions: Since the mitochondrion's ATP synthesis is important in heart and this mutation was not identified in control samples, it is possible that these mutations could constitute a predisposing factor that in combination with environmental factors may trigger in patients with BrS.

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

    DEFF Research Database (Denmark)

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

    2016-01-01

    PURPOSE: We investigated whether Brugada syndrome (BrS)-associated variants identified in the general population have an effect on J-point elevation as well as whether carriers of BrS variants were more prone to experience syncope and malignant ventricular arrhythmia and had increased mortality....../620; noncarriers 9/5,524; P = 0.24), or overall mortality (hazard ratio 0.93, 95% CI 0.63-1.4). CONCLUSIONS: Our data indicate that a significant number of BrS-associated variants are not the monogenic cause of BrS.Genet Med advance online publication 06 October 2016Genetics in Medicine (2016); doi:10.1038/gim...

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

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    Yoshiyasu Aizawa

    2016-06-01

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

  9. 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

    (to)) is thought to play a prominent role in the expression of the syndrome, mutations in I(to)-related genes have not been identified as yet. METHODS AND RESULTS: One hundred and five probands with BrS were screened for ion channel gene mutations using single strand conformation polymorphism (SSCP...

  10. Local Left Ventricular Epicardial J Waves and Late Potentials in Brugada Syndrome Patients with Inferolateral Early Repolarization Pattern.

    Science.gov (United States)

    Nagase, Satoshi; Tanaka, Masamichi; Morita, Hiroshi; Nakagawa, Koji; Wada, Tadashi; Murakami, Masato; Nishii, Nobuhiro; Nakamura, Kazufumi; Ito, Hiroshi; Ohe, Tohru; Kusano, Kengo F

    2017-01-01

    Background: Brugada syndrome (BrS) is characterized by J-point or ST-segment elevation on electrocardiograms (ECGs) and increased risk of ventricular fibrillation (VF). In BrS, epicardial depolarization abnormality with delayed potential on the right ventricular outflow tract is reportedly the predominant mechanism underlying VF. Yet VF occurrence is also associated with early repolarization (ER) pattern in the inferolateral ECG leads, which may represent the inferior and/or left lateral ventricular myocardium. The aim of this study was to examine epicardial electrograms recorded directly at the left ventricle (LV) in BrS patients after VF episodes. Methods: In 12 BrS patients who had experienced VF episodes and 17 control subjects, a multipolar catheter was introduced into the left lateral coronary vein for unipolar and bipolar electrogram recordings at the LV epicardium. Both inferior and lateral ER patterns on ECG were observed in three BrS patients and six control subjects. Results: In the epicardium, prominent J waves were detected using unipolar recording, and potentials after the QRS complex were detected using bipolar recording in three of the 12 BrS patients. These three patients also showed both inferior and lateral ER patterns on ECG. Neither prominent J waves nor potentials after the QRS complex were recorded at the endocardium of the LV in any of these three patients; nor were they seen at the epicardium in any of the control subjects. These features were accentuated on pilsicainide administration (n = 2) but diminished on constant atrial pacing (n = 3) and isoproterenol administration (n = 1). The J waves observed through unipolar recording coincided with the potentials after QRS complex observed through bipolar recording and with the inferolateral ER patterns on ECG. Conclusions: We recorded prominent J waves in unipolar electrogram and potentials after QRS complex in bipolar electrogram at the LV epicardium in BrS patients with global ER pattern

  11. Local Left Ventricular Epicardial J Waves and Late Potentials in Brugada Syndrome Patients with Inferolateral Early Repolarization Pattern

    Science.gov (United States)

    Nagase, Satoshi; Tanaka, Masamichi; Morita, Hiroshi; Nakagawa, Koji; Wada, Tadashi; Murakami, Masato; Nishii, Nobuhiro; Nakamura, Kazufumi; Ito, Hiroshi; Ohe, Tohru; Kusano, Kengo F.

    2017-01-01

    Background: Brugada syndrome (BrS) is characterized by J-point or ST-segment elevation on electrocardiograms (ECGs) and increased risk of ventricular fibrillation (VF). In BrS, epicardial depolarization abnormality with delayed potential on the right ventricular outflow tract is reportedly the predominant mechanism underlying VF. Yet VF occurrence is also associated with early repolarization (ER) pattern in the inferolateral ECG leads, which may represent the inferior and/or left lateral ventricular myocardium. The aim of this study was to examine epicardial electrograms recorded directly at the left ventricle (LV) in BrS patients after VF episodes. Methods: In 12 BrS patients who had experienced VF episodes and 17 control subjects, a multipolar catheter was introduced into the left lateral coronary vein for unipolar and bipolar electrogram recordings at the LV epicardium. Both inferior and lateral ER patterns on ECG were observed in three BrS patients and six control subjects. Results: In the epicardium, prominent J waves were detected using unipolar recording, and potentials after the QRS complex were detected using bipolar recording in three of the 12 BrS patients. These three patients also showed both inferior and lateral ER patterns on ECG. Neither prominent J waves nor potentials after the QRS complex were recorded at the endocardium of the LV in any of these three patients; nor were they seen at the epicardium in any of the control subjects. These features were accentuated on pilsicainide administration (n = 2) but diminished on constant atrial pacing (n = 3) and isoproterenol administration (n = 1). The J waves observed through unipolar recording coincided with the potentials after QRS complex observed through bipolar recording and with the inferolateral ER patterns on ECG. Conclusions: We recorded prominent J waves in unipolar electrogram and potentials after QRS complex in bipolar electrogram at the LV epicardium in BrS patients with global ER pattern

  12. Patient-specific and genome-edited induced pluripotent stem cell-derived cardiomyocytes elucidate single cell phenotype of Brugada Syndrome

    Science.gov (United States)

    Liang, Ping; Sallam, Karim; Wu, Haodi; Li, Yingxin; Itzhaki, Ilanit; Garg, Priyanka; Zhang, Ying; Vermglinchan, Vittavat; Lan, Feng; Gu, Mingxia; Gong, Tingyu; Zhuge, Yan; He, Chunjiang; Ebert, Antje D.; Sanchez-Freire, Veronica; Churko, Jared; Hu, Shijun; Sharma, Arun; Lam, Chi Keung; Scheinman, Melvin M.; Bers, Donald M.; Wu, Joseph C.

    2017-01-01

    Background Brugada Syndrome is a disorder associated with characteristic ECG precordial ST elevation and predisposes afflicted patients to ventricular fibrillation and sudden cardiac death. Despite marked achievements in outlining the organ level pathophysiology of the disorder, the understanding of human cellular phenotype has lagged due to lack of adequate human cellular models of the disorder. Methods and Results We recruited two patients with Type 1 Brugada Syndrome (BrS) carrying two different SCN5A variants and two healthy controls. We generated induced pluripotent stem cells (iPSCs) from their skin fibroblasts by using integration-free Sendai virus. We utilized directed differentiation to create purified populations of iPSC-derived cardiomyocytes (iPSC-CMs). BrS iPSC-CMs showed reductions in inward Na+ current density and reduced maximal upstroke velocity of action potential compared to healthy control iPSC-CMs. Furthermore, BrS iPSC-CMs showed increased burden of triggered activity, abnormal Ca2+ transients, and beating interval variation. Correction of the causative variant by genome editing was performed and resultant iPSC-CMs showed resolution of triggered activity and abnormal Ca2+ transients. Gene expression profiling of iPSC-CMs showed clustering of BrS compared to controls. Furthermore, BrS iPSC-CM gene expression correlated with gene expression from BrS human cardiac tissue gene expression. Conclusions Patient-specific iPSC-CMs are able to recapitulate single cell phenotype features of BrS, including blunted inward sodium current, increased triggered activity and abnormal Ca2+ handling. This novel human cellular model creates future opportunities to further elucidate cellular disease mechanism and identify novel therapeutic targets. PMID:27810048

  13. Sectio og Brugadas syndrom

    DEFF Research Database (Denmark)

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

    2016-01-01

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

  14. Síndrome de Brugada durante el embarazo

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    Eduardo Reyna Villasmil

    2013-09-01

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

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

    OpenAIRE

    Isik, Turker; Takeru, Makiyama; Matteo, Vatta; Hideki, Itoh; Takeshi, Ueyama; Akihiko, Shimizu; Tomohiko, Ai; Minoru, Horie

    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 ...

  16. All that looks like “Brugada” is not “Brugada”: Case series of Brugada phenocopy caused by hyponatremia

    Directory of Open Access Journals (Sweden)

    Yashwant Agrawal

    2016-10-01

    Full Text Available Brugada syndrome (BS, a life-threatening channelopathy associated with reduced inward sodium current due to dysfunctional sodium channels, is characterized by ST-segment elevation with downsloping “coved type” (type 1 or “saddle back” (type 2 pattern in V1–V3 precordial chest leads (1, 2. Brugada phenocopy, a term describing conditions inducing Brugada-like pattern of electrocardiogram (EKG manifestations in patients without true BS, is an emerging condition (3. We describe a case series of Brugada phenocopy with hyponatremia.

  17. p.D1690N sodium voltage-gated channel α subunit 5 mutation reduced sodium current density and is associated with Brugada syndrome.

    Science.gov (United States)

    Zeng, Zhipeng; Xie, Qiang; Huang, Yuan; Zhao, Yuanyuan; Li, Weihua; Huang, Zhengrong

    2016-06-01

    Brugada syndrome (BrS) is an inherited primary arrhythmia disorder, leading to sudden cardiac death due to ventricular tachyarrhythmia, but does not exhibit clinical cardiac abnormalities. The sodium voltage-gated channel α subunit 5 (SCN5A) gene, which encodes the α subunit of the cardiac sodium channel, Nav1.5, is the most common pathogenic gene, although ≥22 BrS‑susceptibility genes have previously been identified. In the present study, a novel genetic variant (p.D1690N) localized in the S5‑S6 linker of domain IV of the Nav1.5 channels was identified in a Chinese Han family. Wild‑type (WT) and p.D1690N Nav1.5 channels were transiently over‑expressed in HEK293 cells and analyzed via the whole-cell patch clamp technique. The p.D1690N mutation significantly reduced the peak sodium current density to 23% of WT (at ‑20 mV; P<0.01), shifted steady‑state activation by 7 mV to increasingly positive potentials (P<0.01). Furthermore, prolonging of the recovery from inactivation was observed in the p.D1690N mutant. No significant change was identified in steady‑state inactivation. Thus, the mutant‑induced changes contributed to the loss of function of Nav1.5 channels, which indicates that the p.D1690N variant may have a pathogenic role in BrS.

  18. Study of the Extent of the Information of Cardiologists from São Paulo City, Brazil, Regarding a Low-Prevalence Entity: Brugada Syndrome

    Science.gov (United States)

    Riera, Andrés Ricardo Pérez; Filho, Celso F.; Uchida, Augusto H.; Zhang, Li; Antzelevitch, Charles; Schapachnik, Edgardo; Dubner, Sergio; Ferreira, Celso

    2008-01-01

    Objective To determine the degree of knowledge that cardiologists from São Paulo, Brazil, have regarding a low-prevalent entity associated with a high rate of sudden death—Brugada syndrome. Methods Two hundred forty-four cardiologists were interviewed by an instrument divided in two parts: in the first, we recorded gender, age, and data related to academic profile. The second—answered only by the professionals that manifested having some degree of knowledge on the syndrome—had 28 questions that evaluated their knowledge. The answers were spontaneous and they did not have a chance to consult. We used uni- and multivariate analysis on the average percentage of right and wrong answers, and the influence of the academic profile. Results The predominant gender was the male gender (61.1%), the average age was 44.32 ± 10.83 years, 40% with more than 20 years after obtaining their degree, 44% were educated in public institutions, 69% had a residency in cardiology, 20% had overseas practice, 12% had postdegree, 41% were linked to an educational institution, 24% with publication(s) in an indexed journal, 17.2% were authors of chapters in books, 2.5% had edited books, and 10% were linked to the Brazilian Society of Cardiac Arrhythmias. The average percentage of right answers was 45.7%. Conclusion The sample studied revealed a little knowledge on the entity. A residency in cardiology was the factor of greater significance in the percentage of right answers. Other significant factors were the link of the interviewed person to an educational institution, or the Brazilian Society of Cardiac Arrhythmias, and having a specialist degree. PMID:18973492

  19. The value of a family history of sudden death in patients with diagnostic type I Brugada ECG pattern

    NARCIS (Netherlands)

    Sarkozy, A.; Sorgente, A.; Boussy, T.; Casado, R.; Paparella, G.; Capulzini, L.; Chierchia, G.B.; Yazaki, Y.; Asmundis, C. de; Coomans, D.; Brugada, J.; Brugada, P.

    2011-01-01

    AIMS: We sought to investigate the value of a family history of sudden death (SD) in Brugada syndrome (BS). METHODS AND RESULTS: Two hundred and eighty consecutive patients (mean age: 41 +/- 18 years, 168 males) with diagnostic type I Brugada ECG pattern were included. Sudden death occurred in 69 (4

  20. Hyperkalemia Induced Brugada Phenocopy: A Rare ECG Manifestation

    Directory of Open Access Journals (Sweden)

    Muhammad Ameen

    2017-01-01

    Full Text Available Brugada syndrome (BrS is an inherited disorder of cardiac ion channels characterized by peculiar ECG findings predisposing individuals to ventricular arrhythmias, syncope, and sudden cardiac death (SCD. Various electrolyte disturbances and ion channels blocking drugs could also provoke BrS ECG findings without genetic BrS. Clinical differentiation and recognition are essential for guiding the legitimate action. Hyperkalemia is well known to cause a wide variety of ECG manifestations. Severe hyperkalemia can even cause life threatening ventricular arrhythmias and cardiac conduction abnormalities. Most common ECG findings include peaked tall T waves with short PR interval and wide QRS complex. Since it is very commonly encountered disorder, physicians need to be aware of even its rare ECG manifestations, which include ST segment elevation and Brugada pattern ECG (BrP. We are adding a case to the limited literature about hyperkalemia induced reversible Brugada pattern ECG changes.

  1. 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.

  2. Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome

    NARCIS (Netherlands)

    Rook, Martin B.; Alshinawi, CB; Groenewegen, WA; van Gelder, IC; van Ginneken, ACG; Jongsma, Habo J.; Mannens, MMAM; Wilde, AAM

    1999-01-01

    Background: Primary dysrhythmias other than those associated with the long QT syndrome, are increasingly recognized. One of these are represented by patients with a history of resuscitation from cardiac arrest but without any structural heart disease. These patients exhibit a distinct electrocardiog

  3. [Personality traits, psychological adjustment, and burnout syndrome in nursing staff].

    Science.gov (United States)

    Bencomo, Juan; Paz, Cristina; Liebster, Elena

    2004-06-01

    The nursing staff is prone to develop Burnout because of the work environment and the stressful situations that develop among patients and their families. Burnout syndrome it's a persistent negative mental state, work related and present in non pathologic populations. Burnout has been associated to personality traits but the findings are too heterogeneous and do not allow plausible generalizations. To identify the relation between Burnout, Personality Traits and Psychological Adjustment, questionnaires were applied to 117 subjects, all members of the nursing staff from a University Hospital in Maracaibo, Venezuela. Traits in Burnout subjects were: sensibility to criticism, lack of confidence, poor social capacity and low Psychological Adjustment. The non-Burnout subjects presented traits of optimism, reality in the way they viewed events, proper social abilities and high Psychological Adjustment. Burnout Syndrome is not a personality type and the traits associated with this syndrome seems to be associated with Psychological Adjustment.

  4. 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....

  5. Genetics of metabolic syndrome and related traits

    OpenAIRE

    Henneman, Peter

    2010-01-01

    In this thesis several aspects of metabolic syndrome are addressed. The focus involves questions concerning the genetics of obesity, TG and cholesterol and hyperglycemia. Since we hypothesized that obesity is the most important trigger of metabolic impairment, the MetS definition in this thesis was chosen to include the obesity measure waist circumference as an essential component. In the study described in chapter 2, the heritability of the metabolic syndrome was addressed and compared to th...

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

    Directory of Open Access Journals (Sweden)

    Gema García García

    2013-03-01

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

  7. [Personality traits of men with Klinefelter syndrome and their partners].

    Science.gov (United States)

    Otonicar, B; Velikonja, V; Zorn, B

    2001-02-01

    The aim of the study was to find whether personality traits of men with Klinefelter syndrome and their partners (group 1-n = 17) differ from those of couples affected by idiopathic infertility (group 2; n = 16) and from those of fertile couples (group 3 n = 17). We further investigated the attitudes of the three groups towards pregnancy, labour and sexuality to find potential différences among the three groups. Besides, we verified the hypotheses of below average or low average intelligence of men with Klinefelter syndrome, and of inferior quality of social life in these men. The data were collected using the interview on medical history, the questionnaire on attitudes towards pregnancy, labour and sexuality (S-S-G), the personality questionnaire MMPI-2. The Raven progressive matrices were used only in group 1. The results show that men with Klinefelter syndrome and their partners do not differ significantly from the couples with idiopathic infertility (group 2), having some shizoide traits in their personality structure and mostly negative attitudes towards pregnancy, labour and sexuality. However, a significant difference has been found between the Klinefelter syndrome group and the fertile couples group. The hypothesis of below average intelligence has not been confirmed, but the quality of social life of men with Klinefelter syndrome has been found inférior. We may thus conclude that in the management of infertile couples in whom the man has been affected by Klinefelter syndrome, the personality structure, importantly affecting the outcome of treatment, should be taken into consideration.

  8. Relationship of the metabolic syndrome to carotid ultrasound traits

    Directory of Open Access Journals (Sweden)

    Zinman Bernard

    2006-07-01

    Full Text Available Abstract Background The metabolic syndrome is associated with increased vascular disease risk. We evaluated two carotid ultrasound measurements, namely intima media thickness and total plaque volume, in a Canadian Oji-Cree population with a high metabolic syndrome prevalence rate. Methods As part of the Sandy Lake Complications Prevalence and Risk Factor Study, 166 Oji-Cree subjects (baseline metabolic syndrome prevalence, 44.0%, according to the National Cholesterol Education Program Adult Treatment Panel III guidelines were examined using a high-resolution duplex ultrasound scanner. Results Image analysis showed that mean intima media thickness was elevated in subjects with the metabolic syndrome (818 ± 18 vs 746 ± 20 μm, as was total plaque volume (125 ± 26 vs 77.3 ± 17.0 mm3. However, after adjustment for age and sex, the differences were significant only for intima media thickness (P = 0.039. Furthermore, a significant trend towards increased intima media thickness was observed with increasing numbers of metabolic syndrome components: mean intima media thickness was highest among individuals with all five metabolic syndrome components compared to those with none (866 ± 55 vs 619 ± 23 μm, P = 0.0014. A similar, but non-significant trend was observed for total plaque volume. Conclusion This is the first study of the relationship between the metabolic syndrome and two distinct carotid ultrasound traits measured in the same individuals. The results suggest that standard intima media thickness measurement shows a more consistent and stronger association with the metabolic syndrome than does total plaque volume.

  9. 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.

  10. Right Ventricular Compression Mimicking Brugada-Like Electrocardiogram in a Patient with Recurrent Pectus Excavatum

    Science.gov (United States)

    Ahn, Jinhee; Shim, Jaemin; Lee, Sung Ho; Kim, Young-Hoon

    2017-01-01

    Pectus excavatum (PE), the most common skeletal anomaly of chest wall, sometimes requires a surgical correction but recurrent PE is not uncommon. PE usually has a benign course; however, this chest deformity may be associated with symptomatic tachyarrhythmias due to mechanical compression. We report a case of a patient with recurrent PE after surgical correction presenting with palpitation and electrocardiogram (ECG) showing ST-segment elevation on the right precordial leads, which could be mistaken for a Brugada syndrome (BrS).

  11. 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...

  12. 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

    2014-08-05

    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

  13. 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.

  14. Consistent behavioural traits and behavioural syndromes in pairs of the false clown anemonefish Amphiprion ocellaris.

    Science.gov (United States)

    Wong, M Y L; Medina, A; Uppaluri, C; Arnold, S; Seymour, J R; Buston, P M

    2013-07-01

    Using the social clown anemonefish Amphiprion ocellaris, whether individuals exhibited consistency in activity levels, boldness and sociability in a paired context, and whether these three behavioural traits were positively correlated within a single behavioural syndrome, was investigated. The results highlight that consistent individual differences in behaviour are expressed in a social fish and suggest that consistent behavioural traits and behavioural syndromes could influence the structure and functioning of their societies.

  15. Social Behavior and Autism Traits in a Sex Chromosomal Disorder: Klinefelter (47XXY) Syndrome

    Science.gov (United States)

    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 Autism Spectrum Questionnaire were compared to 24…

  16. 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

  17. Brugada phenocopy in a patient with pectus excavatum: systematic review of the ECG manifestations associated with pectus excavatum.

    Science.gov (United States)

    Awad, Sara F M; Barbosa-Barros, Raimundo; Belem, Lucia de Sousa; Cavalcante, Camila Pinto; Riera, Andrés Ricardo Pérez; Garcia-Niebla, Javier; Anselm, Daniel D; Baranchuk, Adrian

    2013-09-01

    Brugada phenocopies (BrP) have emerged as new clinical entities that are etiologically distinct from true Brugada syndrome (BrS). BrP are characterized by an ECG pattern that is phenotypically identical to true BrS (type 1 or type 2); however, BrP are caused by various other factors such as mechanical mediastinal compression, myocardial ischemia, pericarditis, myocarditis, pulmonary embolism, and metabolic disturbances. We report a case of an electrocardiographic BrP in a patient with pectus excavatum deformity in the absence of true BrS using currently defined BrP diagnostic criteria. A systematic review of ECG manifestations associated with pectus excavatum is also discussed.

  18. 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.

  19. 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.

  20. 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 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。%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.

  1. A quantitative review of pollination syndromes: do floral traits predict effective pollinators?

    Science.gov (United States)

    Rosas-Guerrero, Víctor; Aguilar, Ramiro; Martén-Rodríguez, Silvana; Ashworth, Lorena; Lopezaraiza-Mikel, Martha; Bastida, Jesús M; Quesada, Mauricio

    2014-03-01

    The idea of pollination syndromes has been largely discussed but no formal quantitative evaluation has yet been conducted across angiosperms. We present the first systematic review of pollination syndromes that quantitatively tests whether the most effective pollinators for a species can be inferred from suites of floral traits for 417 plant species. Our results support the syndrome concept, indicating that convergent floral evolution is driven by adaptation to the most effective pollinator group. The predictability of pollination syndromes is greater in pollinator-dependent species and in plants from tropical regions. Many plant species also have secondary pollinators that generally correspond to the ancestral pollinators documented in evolutionary studies. We discuss the utility and limitations of pollination syndromes and the role of secondary pollinators to understand floral ecology and evolution.

  2. Electrophysiological mechanism of CACNA1C(R1950K) causing L type calcium channel dysfunction in Brugada syndrome%L型钙离子通道α亚基R1950 K突变致Brugada综合征心电图的电生理机制

    Institute of Scientific and Technical Information of China (English)

    冯莉; 马克娟; 李新; 刘彤; 董建增; 马长生

    2016-01-01

    目的:通过对1例Brugada综合征患者疑似致病突变CACNA1C( R1950K)细胞电生理学研究,探究其细胞电生理学发病机制。方法采用目标区域捕获高深度测序技术进行候选基因突变筛查;以脂质体转染技术通过HEK293细胞表达可疑致病突变。应用全细胞膜片钳技术记录L型钙离子通道( LCa )电流。结果候选基因测序发现CACNA1C基因第5849核苷酸位点G>A杂合子错义突变,导致第1950位密码子由精氨酸利用变为赖氨酸R1950K,进一步细胞膜片钳研究发现R1950K突变型LCa电流密度显著减小,峰值电流约为野生型的0.37。两者稳态激活曲线差异无统计学意[( V1/2:WT (-12.22±0.41) mV;R1950K(-12.23±0.28) mV;k:WT(6.11±0.38);R1950K(6.82±0.26),P>0.05)。结论本例国人CACNA1C突变致Brugada综合征,通过细胞电生理学研究证实其发生机制为CACNA1C ( P1950K)导致LCa功能减弱。%Objective The purpose of this study was to identify the electrophysiological mechanisms of a mutation fund inα1 subunit of L type calcium channel ( LTCC,Cav 1.2) of a proband with Brugada syndrome. Methods Candidate genes were screened by direct sequencing. Whole cell patch clamp analysis of the HEK293 cell with express the mutant channel was used to investigate the molecular and electrophysiological mechanism.Results Sequence analysis of the coding region of the CACNA1C gene,identified a G to A hetero-zygous missense mutation at nucleotide site 5 849 that resulted in an amino acid substitution of arginine to ly-sine at amino acid site 1 950 (R1950K).Patch clamp analysis showed that the R1950K significantly reduced the current of LTCC in transfected HEK293 cell,the reduction rate was almost 37%.The activation curve analy-sis between CACNA1C ( R1950K) and wile type CACNA1C showed no difference in both the half-maximal acti-vation (V1/2)and the slope value[V1/2:WT:(-12.22±0.41) mV;R1950K:(-12.23±0.28) mV;k:WT:6.11± 0.38;R1950K:6.82±0.26;P

  3. Autistic Traits in Women with Polycystic Ovary Syndrome

    Science.gov (United States)

    Herguner, Sabri; Harmanci, Hatice; Hergner, Arzu; Toy, Harun

    2012-01-01

    Several studies suggested that prenatal androgen exposure might contribute to development of polycystic ovary syndrome (PCOS). The androgen theory of autism proposes that autism spectrum conditions (ASC) are in part due to elevated fetal testosterone levels. Furthermore, higher rates of androgen-related conditions including PCOS are reported in…

  4. Genotype by energy expenditure interaction with metabolic syndrome traits: the Portuguese healthy family study.

    Science.gov (United States)

    Santos, Daniel M V; Katzmarzyk, Peter T; Diego, Vincent P; Souza, Michele C; Chaves, Raquel N; Blangero, John; Maia, José A R

    2013-01-01

    Moderate-to-high levels of physical activity are established as preventive factors in metabolic syndrome development. However, there is variability in the phenotypic expression of metabolic syndrome under distinct physical activity conditions. In the present study we applied a Genotype X Environment interaction method to examine the presence of GxEE interaction in the phenotypic expression of metabolic syndrome. A total of 958 subjects, from 294 families of The Portuguese Healthy Family study, were included in the analysis. Total daily energy expenditure was assessed using a 3 day physical activity diary. Six metabolic syndrome related traits, including waist circumference, systolic blood pressure, glucose, HDL cholesterol, total cholesterol and triglycerides, were measured and adjusted for age and sex. GxEE examination was performed on SOLAR 4.3.1. All metabolic syndrome indicators were significantly heritable. The GxEE interaction model fitted the data better than the polygenic model (pwaist circumference, systolic blood pressure, glucose, total cholesterol and triglycerides. For waist circumference, glucose, total cholesterol and triglycerides, the significant GxEE interaction was due to rejection of the variance homogeneity hypothesis. For waist circumference and glucose, GxEE was also significant by the rejection of the genetic correlation hypothesis. The results showed that metabolic syndrome traits expression is significantly influenced by the interaction established between total daily energy expenditure and genotypes. Physical activity may be considered an environmental variable that promotes metabolic differences between individuals that are distinctively active.

  5. 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....

  6. Genetic influences on type 2 diabetes and metabolic syndrome related quantitative traits in Mauritius.

    Science.gov (United States)

    Jowett, Jeremy B; Diego, Vincent P; Kotea, Navaratnam; Kowlessur, Sudhir; Chitson, Pierrot; Dyer, Thomas D; Zimmet, Paul; Blangero, John

    2009-02-01

    Epidemiological studies report a high prevalence of type 2 diabetes and metabolic syndrome in the island nation of Mauritius. The Mauritius Family Study was initiated to examine heritable factors that contribute to these high rates of prevalence and consists of 400 individuals in 24 large extended multigenerational pedigrees. Anthropometric and biochemical measurements relating to the metabolic syndrome were undertaken in addition to family and lifestyle based information for each individual. Variance components methods were used to determine the heritability of the type 2 diabetes and metabolic syndrome related quantitative traits. The cohort was made up of 218 females (55%) and 182 males with 22% diagnosed with type 2 diabetes and a further 30% having impaired glucose tolerance or impaired fasting glucose. Notably BMI was not significantly increased in those with type 2 diabetes (P= .12), however a significant increase in waist circumference was observed in these groups (P= .02). The heritable proportion of trait variance was substantial and greater than values previously published for hip circumference, LDL and total cholesterol, diastolic and systolic blood pressure and serum creatinine. Height, weight and BMI heritabilities were all in the upper range of those previously reported. The phenotypic characteristics of the Mauritius family cohort are similar to those previously reported in the Mauritian population with a high observed prevalence rate of type 2 diabetes. A high heritability for key type 2 diabetes and metabolic syndrome related phenotypes (range 0.23 to 0.68), suggest the cohort will have utility in identifying genes that influence these quantitative traits.

  7. 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.

  8. 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

  9. Personality traits associated with perception of noxious stimuli in women with vulvar vestibulitis syndrome.

    Science.gov (United States)

    Granot, Michal

    2005-03-01

    Vulvar vestibulitis syndrome (VVS) is associated with enhanced pain sensitivity. The present study explores the role of personality on the perception of noxious stimuli among women with VVS. More specifically, the aim of the study was to explore whether the personality traits assessed by Cloninger's Tridimensional Personality Questionnaire (TPQ) (harm avoidance [HA], novelty seeking [NS], and reward dependence [RD]) are associated with the augmented pain perception in women with VVS. Quantitative sensory tests were applied to the forearm of 98 women with VVS and 135 control subjects, all of whom completed the TPQ. The women with VVS scored higher than the control subjects on HA and RD with no significant differences in NS. Linear regression analyses revealed that in the VVS group, lower pain thresholds and higher magnitude estimations of suprathreshold pain stimuli were associated with higher HA and RD scores. The enhanced pain perception among women with VVS might reflect their tendency to respond intensely to signals of reward and to elevate the perceived risk. This might lead them to avoid hazards by overestimating the level of potential harm, as represented by greater pain sensitivity. The association between personality traits assessed by Cloninger's Tridimensional Personality Questionnaire, ie, harm avoidance, novelty seeking, and reward dependence, and the enhanced perception of noxious stimuli in vulvar vestibulitis syndrome might suggest neurochemical mechanisms of pain experience affected by personality, with possible application for future treatment approaches toward pain disorders.

  10. Multivariate linkage scan for metabolic syndrome traits in families with type 2 diabetes.

    Science.gov (United States)

    Edwards, Karen L; Wan, Jia Y; Hutter, Carolyn M; Fong, Pui Yee; Santorico, Stephanie A

    2011-06-01

    The purpose of this study was to evaluate evidence for linkage to interrelated quantitative features of the metabolic syndrome (MetS). Data on eight quantitative MetS traits (body weight, waist circumference, systolic and diastolic blood pressure, high-density lipoprotein (HDL) cholesterol, triglycerides (TGs), and fasting glucose and insulin measurements) and a 10 cM genome scan were available for 78 white families (n = 532 subjects). These data were used to conduct multipoint, multivariate linkage analyses, including tests for coincident linkage and complete pleiotropy. The strongest evidence for linkage from the bivariate analyses was observed on chromosome 1 (1p22.2) (HDL-TG; univariate lod score equivalent (lod(eq) = 3.99)) with stronger results from the trivariate analysis at the same location (HDL-TG-Insulin; lod(eq) = 4.32). Seven additional susceptibility regions (lod(eq) scores >1.9) were observed (1p36, 1q23, 2q21.2, 8q23.3, 14q23.2, 14q32.11, and 20p11.21). The results from this study indicate that several correlated traits of the MetS are influenced by the same gene(s) that account for some of the clustering of the MetS features.

  11. 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...

  12. 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.

  13. 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

  14. 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....

  15. 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.

  16. 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

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

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    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.

  18. (Re-)conceptualisation in Asperger's syndrome and typical individuals with varying degrees of autistic-like traits.

    Science.gov (United States)

    Burnett, Hollie G; Jellema, Tjeerd

    2013-01-01

    The abilities to form new concepts from scratch (conceptualisation), and to flexibly switch from one concept to another (re-conceptualisation), were investigated in adults with Asperger's Syndrome and in typically-developed adults with low and high autism spectrum quotients. In consecutively presented morphs, containing increasing percentages of animate or inanimate objects, the emerging objects had to be identified. The abilities to conceptualise and reconceptualise became increasingly impaired with increasing autistic(-like) traits. Across both tasks, all groups recognised animate objects quicker than inanimate objects. However, this 'animate advantage' was differently affected by the two tasks. In the Reconceptualisation task, the 'animate advantage' gradually disappeared with increasing autistic(-like) traits, whereas in the Conceptualisation task it remained present.

  19. Emergence of Epidemic Zika Virus Transmission and Congenital Zika Syndrome: Are Recently Evolved Traits to Blame?

    Science.gov (United States)

    2017-01-01

    ABSTRACT The mechanisms responsible for the dramatic emergence of Zika virus (ZIKV), accompanied by congenital Zika syndrome and Guillain-Barré syndrome (GBS), remain unclear. However, two hypotheses are prominent: (i) evolution for enhanced urban transmission via adaptation to mosquito vectors, or for enhanced human infection to increase amplification, or (ii) the stochastic introduction of ZIKV into large, naive human populations in regions with abundant Aedes aegypti populations, leading to enough rare, severe infection outcomes for their first recognition. Advances in animal models for human infection combined with improvements in serodiagnostics, better surveillance, and reverse genetic approaches should provide more conclusive evidence of whether mosquito transmission or human pathogenesis changed coincidentally with emergence in the South Pacific and the Americas. Ultimately, understanding the mechanisms of epidemic ZIKV emergence, and its associated syndromes, is critical to predict future risks as well as to target surveillance and control measures in key locations. PMID:28074023

  20. Investigation of psychological traits in patients with chronic abdominal pain syndrome

    Directory of Open Access Journals (Sweden)

    A. A. Tokareva

    2012-01-01

    Full Text Available Subjects of the study were 100 chronic abdominal pain syndrome inpatients assigned to subgroups of different level of significance of psychological factors for the development of pain syndrome, different self-assessed pain level (utilizing visual analog scale, and different type of attitude towards disease (by the Bekhterev Institute Personality Inventory. Character and psychodynamic specialties were assessed in the aforementioned subgroups following to assignment. Proved by clinical and psychometric methods diagnosis of somatoform pain disorder was used as an indicator of high importance of psychological determinants. Differences between subgroups were assessed by the kit of questionnaires (Beck Depression Inventory, Spielberger Anxiety Scales, Wasserman Social Frustration Inventory, TAS, MCMI-III and projective tests (Luscher and Szondi tests. Interference between psychosomatic and demographic characteristics within the sample, and accuracy of assigning subjects to subgroups were discussed. Interpretation of the acquired data with implications for psychotherapists was offered.

  1. 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...

  2. 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.

  3. 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.

  4. 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.

  5. 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.

  6. Effects of personality traits on the manifestations of irritable bowel syndrome

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    Tayama Jun

    2012-10-01

    Full Text Available Abstract Objective Previous studies have reported that patients with irritable bowel syndrome (IBS show high neuroticism. However, the precise association between the IBS subtypes and the degree of neuroticism in younger populations is largely unknown. We tested our hypothesis that subjects with diarrhea-predominant IBS may have a higher degree of neuroticism than subjects without IBS or those with other subtypes of IBS. We also verified the additional hypothesis that the severity of neuroticism might be correlated with the severity of IBS in younger populations. Methods We conducted a cross-sectional survey of 557 university students, ranging in age from 18 to 21 years. Presence/ absence of IBS and determination of the IBS subtype was by the Rome II Modular Questionnaire, while the severity of IBS was determined by the IBS severity index (IBS-SI. The degree of neuroticism was evaluated using the Maudsely Personality Inventory (MPI. The presence/absence of psychological distress was measured with the K6 scale. Results Neuroticism scores in the subjects with diarrhea-predominant IBS were significantly higher than those in the non-IBS subjects or subjects with constipation-predominant IBS. The neuroticism scores were significantly correlated with the IBS-SI scores in all subjects with IBS. Conclusion These results suggest that neuroticism is involved in the pathophysiology of IBS in young subjects, especially in that of the diarrhea-predominant subtype.

  7. Obsessive-compulsive traits in children and adolescents with Asperger syndrome.

    Science.gov (United States)

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

    2010-01-01

    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 criteria. The Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule were used to assist in the AS diagnosis; the WISC-R was administered to assess IQ. Obsessive and compulsive symptoms were evaluated by using the Children's Yale-Brown Obsessive-Compulsive Scale (CY-BOCS). None of the AS children received a formal diagnosis of OCD. The AS group presented significantly higher frequencies of Hoarding obsessions and Repeating, Ordering and Hoarding compulsions compared to CG. The OCD group, in turn, reported significantly higher frequencies of Contamination and Aggressive obsessions and Checking compulsions compared to both the AS group and CG. As expected, the OCD group displayed a higher severity of symptoms (Moderate level of severity) than did the AS group (Mild level of severity). Finally, in our sample, neither the OCD group nor the AS group demonstrated a completely full awareness of the intrusive, unreasonable and distressing nature of symptoms, and the level of insight did not differ between the OCD group and CG, although an absence of insight was observed in the AS group. Children with AS showed higher frequencies of obsessive and compulsive symptoms than did typically developing children, and these features seem to cluster around Hoarding behaviours. Additionally, different patterns of symptoms emerged between the OCD and AS groups. Finally, in our sample, the level of insight was poor in both the OCD and the AS children. Further research should be conducted to better

  8. 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

  9. Combined Right Ventricular Outflow Tract Epicardial and Endocardial Late Potential Ablation for Treatment of Brugada Storm: A Case Report and Review of the Literature.

    Science.gov (United States)

    Saha, Sandeep A; Krishnan, Kousik; Madias, Christopher; Trohman, Richard G

    2016-12-01

    A 34-year-old man with Brugada syndrome (BrS) presented with electrical storm, manifested as multiple appropriate shocks from his implantable cardioverter-defibrillator over a period of 7 hours. He had not tolerated prior treatment with quinidine, and had self-discontinued cilostazol citing persistent palpitations. After stabilization with intravenous isoproterenol, an electrophysiology study was performed but no spontaneous or induced ventricular ectopic beats were identified. A three-dimensional (3D) endocardial electro-anatomic map of the right ventricular outflow tract (RVOT), pulmonic valve, and pulmonary artery, as well as a 3D epicardial map of the RVOT, were created. Low voltage, complex, fractionated electrograms and late potentials were targeted for irrigated radiofrequency ablation both endocardially and epicardially. Post-procedure, he was maintained on cilostazol (referring clinician preference), and has had no further ventricular tachyarrhythmia episodes over the past forty-one months. We propose that this novel ablation strategy may be useful for acute management of selected patients with BrS.

  10. 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…

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

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    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.

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

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    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

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

    Science.gov (United States)

    Lacaria, Melanie; Saha, Pradip; Potocki, Lorraine; Bi, Weimin; Yan, Jiong; Girirajan, Santhosh; Burns, Brooke; Elsea, Sarah; Walz, Katherina; Chan, Lawrence; Lupski, James R; Gu, Wenli

    2012-01-01

    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(11)17, or duplication, Dp(11)17, of the mouse genomic interval syntenic to the SMS/PTLS region. We demonstrate that Dp(11)17 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(11)17/+ mice display much less weight gain and metabolic change than WT mice, demonstrating that the Dp(11)17 CNV protects against metabolic syndrome. Reciprocally, Df(11)17/+ 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(11)17 and Df(11)17 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 this study

  14. 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

    , when exome data from the NHLI GO Exome Sequencing Project (ESP) was published. In this study, we aimed to report the prevalence of previously BrS-associated variants in the ESP population. We performed a search in ESP for variants previously associated with BrS. In addition, four variants in ESP were...... genotyped in a second Danish control population (n = 536) with available electrocardiograms. In ESP, we identified 38 of 355 (10%) variants, distributed on 272 heterozygote carriers and two homozygote carriers. The genes investigated were on average screened in 6258 individuals. This corresponds...... to a surprisingly high genotype prevalence of 1:23 (274:6258). Genotyping the four common ESP-derived variants CACNA2D1 S709N, SCN5A F2004L, CACNB2 S143F, and CACNB2 T450I in the Danish controls, we found a genotype prevalence comparable with that found in ESP. We suggest that exome data are used in research...

  15. 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

    , NS5806. METHODS AND RESULTS: Isolated canine ventricular myocytes and coronary-perfused wedge preparations were used. Whole-cell patch-clamp studies showed that NS5806 (10 microM) increased peak I(to) at +40 mV by 79 +/- 4% (24.5 +/- 2.2 to 43.6 +/- 3.4 pA/pF, n = 7) and slowed the time constant......, but not in the 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 phenotype in wedges from both ventricles. NS5806 induced BrS in 4/6 right and 2/10 left ventricular wedge preparations. CONCLUSION: The I(to) activator NS5806 recapitulates the electrographic and arrhythmic manifestation of BrS, providing evidence in support of its pivotal role in the genesis of the disease...

  16. 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

    of 1.1 definite BrS cases per 100 000 inhabitants. Most definite BrS patients were men (86%) and the median age at diagnosis was 48 years. A total of 35 definite BrS patients (81%) had an implantable cardioverter defibrillator (ICD) implanted and of these 9 (26%) experienced appropriate shocks and 3 (8......%) experienced inappropriate shocks during a median follow-up of 47 months. No patient died or experienced aborted sudden cardiac death during follow-up.ConclusionsWe report the first nationwide study of BrS patients. We found a low incidence of diagnosed definite BrS compared with estimates from ECG surveys....... Follow-up data show a lower rate of inappropriate therapies in ICD carriers than that reported in previous studies....

  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. 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

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

  19. Relationship between the Porcine Stress Syndrome gene and carcass and performance traits in F2 pigs resulting from divergent crosses

    Directory of Open Access Journals (Sweden)

    Guilherme de Oliveira Band

    2005-03-01

    Full Text Available The PSS genotypes of 596 F2 pigs produced by initial mating of Brazilian native boars commercial sows and were characterized by PCR-RFLP and their carcass and performance traits were evaluated. Among the 596 animals analyzed, 493 (82.72% were characterized as NN and 103 (17.28% as Nn. With respect to carcass traits, Nn animals presented higher (p < 0.05 right half carcass weight, left half carcass weight, loin depth and loin eye area, and lower shoulder backfat thickness, backfat thickness between last and next to last but one lumbar vertebrae and backfat thickness after last rib at 6.5 cm from the midline compared to NN animals. Nn animals also showed (p < 0.05 higher values for most of the cut yields, indicating higher cutting yields for animals carrying the n allele and lower values for bacon depth, confirming lower fat deposition in carcass. In addition, Nn animals presented (p < 0.05 lower values for the performance trait weight at 105 days of age. These results indicate that animals carrying the PSS gene generate leaner carcasses, higher cut yields, and that the effects of the gene can be observed even in divergent crosses.

  20. 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.

  1. Siblings of Individuals with Smith-Magenis Syndrome: An Investigation of the Correlates of Positive and Negative Behavioural Traits

    Science.gov (United States)

    Moshier, M. S.; York, T. P.; Silberg, J. L.; Elsea, S. H.

    2012-01-01

    Background: Smith-Magenis syndrome (SMS) is a neurodevelopmental disorder that affects approximately one out of 25 000 births worldwide. To date, no research has been conducted to investigate how having an individual with SMS in a family is a positive or negative influence on siblings. Methods: To investigate this question we conducted a study…

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

    Science.gov (United States)

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

  3. Mouse models of genomic syndromes as tools for understanding the basis of complex traits: an example with the smith-magenis and the potocki-lupski syndromes.

    Science.gov (United States)

    Carmona-Mora, P; Molina, J; Encina, C A; Walz, K

    2009-06-01

    Each human's genome is distinguished by extra and missing DNA that can be "benign" or powerfully impact everything from development to disease. In the case of genomic disorders DNA rearrangements, such as deletions or duplications, correlate with a clinical specific phenotype. The clinical presentations of genomic disorders were thought to result from altered gene copy number of physically linked dosage sensitive genes. Genomic disorders are frequent diseases (~1 per 1,000 births). Smith-Magenis syndrome (SMS) and Potocki-Lupski syndrome (PTLS) are genomic disorders, associated with a deletion and a duplication, of 3.7 Mb respectively, within chromosome 17 band p11.2. This region includes 23 genes. Both syndromes have complex and distinctive phenotypes including multiple congenital and neurobehavioral abnormalities. Human chromosome 17p11.2 is syntenic to the 32-34 cM region of murine chromosome 11. The number and order of the genes are highly conserved. In this review, we will exemplify how genomic disorders can be modeled in mice and the advantages that such models can give in the study of genomic disorders in particular and gene copy number variation (CNV) in general. The contributions of the SMS and PTLS animal models in several aspects ranging from more specific ones, as the definition of the clinical aspects of the human clinical spectrum, the identification of dosage sensitive genes related to the human syndromes, to the more general contributions as the definition of genetic locus impacting obesity and behavior and the elucidation of general mechanisms related to the pathogenesis of gene CNV are discussed.

  4. Quantitative trait loci associated with blood pressure of metabolic syndrome in the progeny of NZO/HILtJxC3H/HeJ intercrosses.

    Science.gov (United States)

    Nishihara, Eri; Tsaih, Shirng-Wern; Tsukahara, Chieko; Langley, Sarah; Sheehan, Susan; DiPetrillo, Keith; Kunita, Satoshi; Yagami, Ken-ichi; Churchill, Gary A; Paigen, Beverly; Sugiyama, Fumihiro

    2007-08-01

    In a previous study in 15 inbred mouse strains, we found highest and lowest systolic blood pressures in NZO/HILtJ mice (metabolic syndrome) and C3H/HeJ mice (common lean strain), respectively. To identify the loci involved in hypertension in metabolic syndrome, we performed quantitative trait locus (QTL) analysis for blood pressure with direction of cross as a covariate in segregating F2 males derived from NZO/HILtJ and C3H/HeJ mice. We detected three suggestive main-effect QTLs affecting systolic and diastolic blood pressures (SBP and DBP). We analyzed the first principle component (PC1) generated from SBP and DBP to investigate blood pressure. In addition to all the suggestive QTLs (Chrs 1, 3, and 8) in SBP and DBP, one suggestive QTL on Chr 4 was found in PC1 in the main scan. Simultaneous search identified two significant epistatic locus pairs (Chrs 1 and 4, Chrs 4 and 8) for PC1. Multiple regression analysis revealed three blood pressure QTLs (Bpq10, 100 cM on Chr 1; Bpq11, 6 cM on Chr 4; Bpq12, 29 cM on Chr 8) accounting for 29.4% of blood pressure variance. These were epistatic interaction QTLs constructing a small network centered on Chr 4, suggesting the importance of genetic interaction for development of hypertension. The blood pressure QTLs on Chrs 1, 4, and 8 were detected repeatedly in multiple studies using common inbred nonobese mouse strains, implying substantial QTL independent of development of obesity and insulin resistance. These results enhance our understanding of complicated genetic factors of hypertension in metabolic diseases.

  5. 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.

  6. Relationship between the Porcine Stress Syndrome gene and pork quality traits of F2 pigs resulting from divergent crosses

    Directory of Open Access Journals (Sweden)

    Guilherme de Oliveira Band

    2005-03-01

    Full Text Available The PSS genotypes of 596 F2 pigs produced by initial mating of Brazilian commercial sows and native boars were characterized by PCR-RFLP and the pork quality traits were evaluated. Among the 596 pigs studied, 493 (82.7% were NN and 103 (17.3% were Nn. There were no differences between NN and Nn pigs in the following pork qualities: pHu (5.71 ± 0.16 vs 5.70 ± 0.11, intramuscular fat (1.55 ± 0.64% vs 1.65 ± 0.67%, shear force (5552 ± 878 g/1.2 cm vs 5507 ± 826 g/1.2 cm, lightness (44.96 ± 2.05 vs 45.01 ± 1.92, redness (0.64 ± 0.60 vs 0.79 ± 0.55, yellowness (6.62 ± 0.56 vs 6.65 ± 0.48, hue (84.28 ± 5.53 vs 83.41 ± 4.85, or chroma (6.68 ± 0.52 vs 6.73 ± 0.52. However, pork from Nn pigs had a significantly (p < 0.05 lower pH45 (6.41 ± 0.27 vs 6.51 ± 0.26 and greater drip (3.92 ± 1.90% vs 3.06 ± 1.60%, cooking (33.29 ± 2.26% vs 32.50 ± 2.54% and total (35.67 ± 2.48% vs 34.01 ± 2.58% loss compared to that of NN pigs. These results indicate that, even in divergent crosses, PSS gene carriers produce pork of poorer quality.

  7. Freshwater Biological Traits Database (Traits)

    Science.gov (United States)

    The traits database was compiled for a project on climate change effects on river and stream ecosystems. The traits data, gathered from multiple sources, focused on information published or otherwise well-documented by trustworthy sources.

  8. Clustering of metabolic syndrome traits is associated with maladaptive carotid remodeling and stiffening: a 6-year longitudinal study.

    Science.gov (United States)

    Ferreira, Isabel; Beijers, Hanneke J; Schouten, Fleur; Smulders, Yvo M; Twisk, Jos W; Stehouwer, Coen D

    2012-08-01

    Maladaptive arterial remodeling may constitute a mechanism underlying the risk of stroke in individuals with the metabolic syndrome (MetS), but evidence supporting this contention derives from cross-sectional studies only. We, therefore, investigated, in apparently healthy adults, whether changes in MetS status between the ages of 36 and 42 years (never [n=207, reference group], incident [n=31], recovery [n=23], and persistent [n=32]) were associated with changes in carotid interadventitial diameter, lumen diameter, intima-media thickness, circumferential wall tension and stress, and Young's elastic modulus. All data analyses were adjusted for sex, height, and (changes in) age, lifestyle variables, low-density lipoprotein cholesterol, and use of antihypertensive medication. At baseline and as compared with the reference group, individuals with persistent MetS had significantly higher interadventitial diameter, circumferential wall tension, circumferential wall stress, and Young's elastic modulus but not intima-media thickness. In the course of follow-up, these individuals (versus reference group) displayed significantly steeper increases in intima-media thickness (0.011 versus 0.005 mm/y), which were accompanied by significantly steeper increases in interadventitial diameter (0.077 versus 0.032 mm/y) and lumen diameter (0.055 versus 0.023 mm/y) but not circumferential wall stress, which decreased (-0.34 versus 0.12 kPa/y). These findings suggest that increases in intima-media thickness in young adults with the MetS may primarily reflect an adaptive mechanism that attempts to restore local hemodynamic conditions to an equilibrium rather than atherosclerosis, per se. However, carotid adaptations did not restore circumferential wall stress to levels comparable with those of the reference group, and, therefore, outward remodeling was maladaptive. Importantly, individuals who recovered from the MetS restored carotid properties to levels comparable to the reference group

  9. 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

  10. Why species tell more about traits than traits about species: predictive analysis.

    Science.gov (United States)

    Clark, James S

    2016-08-01

    Trait analysis aims to understand relationships between traits, species diversity, and the environment. Current methods could benefit from a model-based probabilistic framework that accommodates covariance between traits and quantifies contributions from inherent trait syndromes, species interactions, and responses to the environment. I develop a model-based approach that separates these effects on trait diversity. Application to USDA Forest Inventory and Analysis (FIA) data in the eastern United States demonstrates an apparent paradox, that the analysis of species better explains and predicts traits than does direct analysis of the traits themselves; trait data contain less, not more, information than species on environmental responses. Whereas variation in some traits is dominated by inherent syndromes (tendency for certain traits to be associated with others within an individual and species), others are strongly controlled by variation in species diversity. There is substantial variation in environmental control on trait patterns, between traits and regionally. In terms of environmental response traits do not aggregate into defined plant functional types, as would be desirable for models.

  11. 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.

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

    DEFF Research Database (Denmark)

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

    2008-01-01

    S SCN5A mutation. METHODS AND RESULTS: SCN5A was screened for mutations in a male patient with type-1 BrS pattern ECG. Wild-type (WT) and mutant Na(v)1.5 channels were expressed in HEK293 cells. Sodium currents (I(Na)) were analysed using the whole-cell patch-clamp technique at 37 degrees C...

  13. 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

  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. 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.

  16. 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.

  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. Sickle Cell Trait

    Science.gov (United States)

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

  19. 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.

  20. 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.

  1. Heart Rhythm UK position statement on clinical indications for implantable cardioverter defibrillators in adult patients with familial sudden cardiac death syndromes.

    Science.gov (United States)

    Garratt, Clifford J; Elliott, Perry; Behr, Elijah; Camm, A John; Cowan, Campbell; Cruickshank, Stephanie; Grace, Andrew; Griffith, Michael J; Jolly, Anne; Lambiase, Pier; McKeown, Pascal; O'Callagan, Peter; Stuart, Graham; Watkins, Hugh

    2010-08-01

    Whilst the decision regarding defibrillator implantation in a patient with a familial sudden cardiac death syndrome is likely to be most significant for any particular individual, the clinical decision-making process itself is complex and requires interpretation and extrapolation of information from a number of different sources. This document provides recommendations for adult patients with the congenital Long QT syndromes, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, hypertrophic cardiomyopathy, and arrhythmogenic right ventricular cardiomyopathy. Although these specific conditions differ in terms of clinical features and prognosis, it is possible and logical to take an approach to determining a threshold for implantable cardioveter-defibrillator implantation that is common to all of the familial sudden cardiac death syndromes based on estimates of absolute risk of sudden death.

  2. 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

  3. 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.

  4. 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.

  5. Quantitative Trait Locus Analysis of the Early Domestication of Sunflower

    OpenAIRE

    David M Wills; Burke, John M.

    2007-01-01

    Genetic analyses of the domestication syndrome have revealed that domestication-related traits typically have a very similar genetic architecture across most crops, being conditioned by a small number of quantitative trait loci (QTL), each with a relatively large effect on the phenotype. To date, the domestication of sunflower (Helianthus annuus L.) stands as the only counterexample to this pattern. In previous work involving a cross between wild sunflower (also H. annuus) and a highly improv...

  6. 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.

  7. 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

    that these electrophysiological changes resulted in a reduction in both action potential amplitude and maximum upstroke velocity. The experimental data thereby indicate that Navβ1b/H162P results in reduced sodium channel activity functionally affecting the ventricular action potential. This result is an important replication...

  8. 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

    susceptibility was unexpectedly large (Ptrend = 6.1 × 10(-81)). The association signals at SCN5A-SCN10A demonstrate that genetic polymorphisms modulating cardiac conduction can also influence susceptibility to cardiac arrhythmia. The implication of association with HEY2, supported by new evidence that Hey2...

  9. [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.

  10. Same Traits, Different Variance

    Directory of Open Access Journals (Sweden)

    Jamie S. Churchyard

    2014-02-01

    Full Text Available Personality trait questionnaires are regularly used in individual differences research to examine personality scores between participants, although trait researchers tend to place little value on intra-individual variation in item ratings within a measured trait. The few studies that examine variability indices have not considered how they are related to a selection of psychological outcomes, so we recruited 160 participants (age M = 24.16, SD = 9.54 who completed the IPIP-HEXACO personality questionnaire and several outcome measures. Heterogenous within-subject differences in item ratings were found for every trait/facet measured, with measurement error that remained stable across the questionnaire. Within-subject standard deviations, calculated as measures of individual variation in specific item ratings within a trait/facet, were related to outcomes including life satisfaction and depression. This suggests these indices represent valid constructs of variability, and that researchers administering behavior statement trait questionnaires with outcome measures should also apply item-level variability indices.

  11. 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

  12. Power and Autistic Traits

    Directory of Open Access Journals (Sweden)

    Geir Overskeid

    2016-08-01

    Full Text Available 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

  13. Dumping Syndrome

    Science.gov (United States)

    ... System & How it Works Digestive Diseases A-Z Dumping Syndrome What is dumping syndrome? Dumping syndrome occurs when food, especially sugar, ... the colon and rectum—and anus. What causes dumping syndrome? Dumping syndrome is caused by problems with ...

  14. Cerebellum and personality traits.

    Science.gov (United States)

    Petrosini, Laura; Cutuli, Debora; Picerni, Eleonora; Laricchiuta, Daniela

    2015-02-01

    Personality traits are multidimensional traits comprising cognitive, emotional, and behavioral characteristics, and a wide array of cerebral structures mediate individual variability. Differences in personality traits covary with brain morphometry in specific brain regions. A cerebellar role in emotional and affective processing and on personality characteristics has been suggested. In a large sample of healthy subjects of both sexes and differently aged, the macro- and micro-structural variations of the cerebellum were correlated with the scores obtained in the Temperament and Character Inventory (TCI) by Cloninger. Cerebellar volumes were associated positively with Novelty Seeking scores and negatively with Harm Avoidance scores. Given the cerebellar contribution in personality traits and emotional processing, we investigated the cerebellar involvement even in alexithymia, construct of personality characterized by impairment in cognitive, emotional, and affective processing. Interestingly, the subjects with high alexithymic traits had larger volumes in the bilateral Crus 1. The cerebellar substrate for some personality dimensions extends the relationship between personality and brain areas to a structure up to now thought to be involved mainly in motor and cognitive functions, much less in emotional processes and even less in personality individual differences. The enlarged volumes of Crus 1 in novelty seekers and alexithymics support the tendency to action featuring both personality constructs. In fact, Novelty Seeking and alexithymia are rooted in behavior and inescapably have a strong action component, resulting in stronger responses in the structures more focused on action and embodiment, as the cerebellum is.

  15. Gorlin's Syndrome-A case report

    OpenAIRE

    Arun Gupta ,Vijay Suri,Yudhvir Gupta

    2000-01-01

    Gorlin's syndrome is a rare disorder transmitted as an autosomal dominant trait. Most commonphenotypic expression of this syndrome is a basal cell carcinoma (BCC). It is characterized bymultiple skin lesions on head and neck region. We present a case of49 year old male who presentedwith basal cell carcinoma at multiple sites simultaneously.

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

    Science.gov (United States)

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

  17. Serotonin syndrome

    Science.gov (United States)

    Hyperserotonemia; Serotonergic syndrome; Serotonin toxicity; SSRI - serotonin syndrome; MAO - serotonin syndrome ... two medicines that affect the body's level of serotonin are taken together at the same time. The ...

  18. 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.

  19. 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...

  20. Thalassaemia trait and pregnancy.

    OpenAIRE

    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...

  1. 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.

  2. Personality Traits and Social Inequality

    OpenAIRE

    2015-01-01

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

  3. 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, ...

  4. Metabolic Syndrome

    Science.gov (United States)

    ... hypertension, hypertriglyceridemia, insulin resistance syndrome, low HDL cholesterol, Metabolic Syndrome, overweight, syndrome x, type 2 diabetes Family Health, Kids and Teens, Men, Women January 2005 Copyright © American Academy of Family PhysiciansThis ...

  5. Williams syndrome

    Science.gov (United States)

    Williams-Beuren syndrome ... Williams syndrome is caused by not having a copy of several genes. Parents may not have any family history of the condition. However, people with Williams syndrome have a 50% chance of passing the ...

  6. 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.

  7. 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.

  8. 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.

  9. Freshwater Biological Traits Database (Final Report)

    Science.gov (United States)

    EPA announced the release of the final report, Freshwater Biological Traits Database. This report discusses the development of a database of freshwater biological traits. The database combines several existing traits databases into an online format. The database is also...

  10. 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...... if these effects were due to a pleiotropic QTL affecting fertility and milk yield traits or to linked QTL causing the effects. This distinction could only be made with confidence on BTA1 where a QTL affecting milk yield is linked to a pleiotropic QTL affecting days open and fertility treatments...

  11. 北京市中学生腰围与体质指数及代谢综合征相关性状分析%Relationship between waist circumference and body mass index and metabolic syndrome related traits among middle school students in Beijing

    Institute of Scientific and Technical Information of China (English)

    陈天娇; 季成叶

    2012-01-01

    目的:分析北京市中学生不同腰围水平与代谢综合征相关性状的关系,为我国学龄儿童青少年腰围标准制定提供依据.方法:选择北京市1427名13~18岁中学生,测量身高、体重、腰围、血压、总胆固醇、甘油三酯、高密度脂蛋白胆固醇、低密度脂蛋白胆固醇和血糖.结合中国儿童青少年腰围正常值P75和P90,将对象分为3组.依据中国肥胖问题工作组体质指数(body mass index,BMI)超重肥胖筛查标准和2005年国际糖尿病联盟发布的代谢综合征标准,分析不同腰围组BMI超重肥胖情况,及其与代谢综合征相关性状关系.结果:高腰围水平组与低腰围水平组相比,代谢综合征各相关性状中高密度脂蛋白胆固醇均值降低,其余各指标均值均增加.除血糖和女生总胆固醇及甘油三酯外,各性状在不同腰围组差异均有统计学意义.高腰围水平组代谢综合征各组分除高血糖和女生高甘油三酯血症外发生率均显著增加,各组分聚集性也显著增加.不同腰围水平组与基于BMI的超重、肥胖筛查标准有较好相关性.结论:P75和P90的腰围分组能较好地指示代谢综合征各组分,提示心血管危险的增加.%Objective: To analyze the relationship between waist circumference ( WC ) and metabolic syndrome ( MS) related traits among middle school students in Beijing and to provide the proof for making WC cut-offs among Chinese children and adolescents. Methods; In the study, 1 427 students aged 13 -18 years were investigated. The indexes included height, weight, WC, blood pressure, total cholesterol, triglycerides, HDL-cholesterol, LDL-cholesterol and fasting blood glucose. The subjects were divided into three WC groups by using P75 and P90 of WC reference norms for Chinese children and adolescents. Obesity and MS components were assessed with the criteria of Working Group on Obesity in China and International Diabetes Federation, respectively. Results

  12. Kindler syndrome

    Directory of Open Access Journals (Sweden)

    Kaviarasan P

    2005-01-01

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

  13. 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.

  14. Mutation analysis of KCNQ1,KCNH2,SCN5A,KCNE1 and KCNE2 genes in Chinese patients with long QT syndrome

    Institute of Scientific and Technical Information of China (English)

    DU Rong; YANG Junguo; TIAN Li; YUAN Guohui; LI Jin; REN Faxin; GUI Le; LI Wei; ZHANG Shouyan; KANG Cailian

    2007-01-01

    Long QT syndrome(LQTS)is the prototype of the cardiac ion channelopathies,which cause syncope and sudden death.Inherited LQTS is represented by the autosomal dominant Romano-ward syndrome(RWS),which is not accompanied by congenital deafness,and the autosomal recessive Jervell and Lange-Nielsen syndrome(JLNS),which is accompanied by congenital deafness.The LQTS-causing mutations have been reported in patients and families from Europe,North America and Japan.Few genetic studies have been carried out in families with JLNS from China.This study investigates the molecular pathology in four families with LQTS(including a family with JLNS) in the Chinese population.Polymerase chain reaction and DNA sequencing were used to screen for KCNQ1,KCNH2,KCNE1,KCNE2 and SCN5A mutation.A missense mutation G314S in an RWS family was identified,and a single nucleotide polymorphism (SNP)G643S was indentified in the KCNQ1 of the JLNS family.In this JLNS family,another heterozygous novel mutation in exon 2a was found in KCNQ1 of the patients.Our data provide useful information for the identitication of polymorohisms and mutations related to LOTS and the Brugada Syndrome (BS)in Chinese populations.

  15. 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

  16. 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)

  17. 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.

  18. A genetic basis for mechanosensory traits in humans.

    Science.gov (United States)

    Frenzel, Henning; Bohlender, Jörg; Pinsker, Katrin; Wohlleben, Bärbel; Tank, Jens; Lechner, Stefan G; Schiska, Daniela; Jaijo, Teresa; Rüschendorf, Franz; Saar, Kathrin; Jordan, Jens; Millán, José M; Gross, Manfred; Lewin, Gary R

    2012-01-01

    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.

  19. 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.

  20. Statistical estimation of correlated genome associations to a quantitative trait network.

    Directory of Open Access Journals (Sweden)

    Seyoung Kim

    2009-08-01

    Full Text Available Many complex disease syndromes, such as asthma, consist of a large number of highly related, rather than independent, clinical or molecular phenotypes. This raises a new technical challenge in identifying genetic variations associated simultaneously with correlated traits. In this study, we propose a new statistical framework called graph-guided fused lasso (GFlasso to directly and effectively incorporate the correlation structure of multiple quantitative traits such as clinical metrics and gene expressions in association analysis. Our approach represents correlation information explicitly among the quantitative traits as a quantitative trait network (QTN and then leverages this network to encode structured regularization functions in a multivariate regression model over the genotypes and traits. The result is that the genetic markers that jointly influence subgroups of highly correlated traits can be detected jointly with high sensitivity and specificity. While most of the traditional methods examined each phenotype independently and combined the results afterwards, our approach analyzes all of the traits jointly in a single statistical framework. This allows our method to borrow information across correlated phenotypes to discover the genetic markers that perturb a subset of the correlated traits synergistically. Using simulated datasets based on the HapMap consortium and an asthma dataset, we compared the performance of our method with other methods based on single-marker analysis and regression-based methods that do not use any of the relational information in the traits. We found that our method showed an increased power in detecting causal variants affecting correlated traits. Our results showed that, when correlation patterns among traits in a QTN are considered explicitly and directly during a structured multivariate genome association analysis using our proposed methods, the power of detecting true causal SNPs with possibly pleiotropic

  1. A RARE FAMILIAL CASE REPORT OF NAIL-PATELLA SYNDROME

    Directory of Open Access Journals (Sweden)

    Rakesh

    2014-10-01

    Full Text Available Nail-patella syndrome is a rare genetic disorder, which is inherited as an autosomal dominant trait. This condition is also known as hereditary osteo-onychodysplasia (HOOD syndrome, Fong’s syndrome, Turner-Kieser syndrome. (1 Posterior iliac horns are commonly found in this syndrome and are considered pathognomonic. In this case report we have described almost all the radiographic features of nail-patella syndrome including the pathognomic iliac horns and other skeletal features including absent or hypoplastic patellae, elbow abnormalities, as seen on radiographs. The magnetic resonance imaging (MRI of the features of this syndrome has been mentioned in only one report, (2 however, no images were actually presented. Considering the hereditary nature (autosomal dominant of the syndrome we wanted to rule out whether any other member in the family are involved and to our surprise we found two other members(mother and elder brother in the family with similar features.

  2. Quantitative trait loci analysis of swine meat quality traits

    DEFF Research Database (Denmark)

    Li, H D; Lund, M S; Christensen, O F

    2010-01-01

    were estimated from a posterior distribution of the QTL position. In total, 31 QTL for the 6 meat quality traits were found to be significant at the 5% chromosome-wide level, among which 11 QTL were significant at the 5% genome-wide level and 5 of these were significant at the 0.1% genome-wide level......A QTL study was performed in large half-sib families to characterize the genetic background of variation in pork quality traits as well as to examine the possibilities of including QTL in a marker-assisted selection scheme. The quality traits included ultimate pH in LM and the semimembranosus, drip...... the same. In addition, a strong correlation of the estimated effects of these QTL was found between the 4 traits, indicating that the same genes control these traits. A similar pattern was seen on SSC15 for the QTL affecting ultimate pH in the 2 muscles and drip loss. The results from this study...

  3. Combined expression trait correlations and expression quantitative trait locus mapping.

    Directory of Open Access Journals (Sweden)

    Hong Lan

    2006-01-01

    Full Text Available Coordinated regulation of gene expression levels across a series of experimental conditions provides valuable information about the functions of correlated transcripts. The consideration of gene expression correlation over a time or tissue dimension has proved valuable in predicting gene function. Here, we consider correlations over a genetic dimension. In addition to identifying coregulated genes, the genetic dimension also supplies us with information about the genomic locations of putative regulatory loci. We calculated correlations among approximately 45,000 expression traits derived from 60 individuals in an F2 sample segregating for obesity and diabetes. By combining the correlation results with linkage mapping information, we were able to identify regulatory networks, make functional predictions for uncharacterized genes, and characterize novel members of known pathways. We found evidence of coordinate regulation of 174 G protein-coupled receptor protein signaling pathway expression traits. Of the 174 traits, 50 had their major LOD peak within 10 cM of a locus on Chromosome 2, and 81 others had a secondary peak in this region. We also characterized a Riken cDNA clone that showed strong correlation with stearoyl-CoA desaturase 1 expression. Experimental validation confirmed that this clone is involved in the regulation of lipid metabolism. We conclude that trait correlation combined with linkage mapping can reveal regulatory networks that would otherwise be missed if we studied only mRNA traits with statistically significant linkages in this small cross. The combined analysis is more sensitive compared with linkage mapping alone.

  4. Seasonal succession in zooplankton feeding traits reveals trophic trait coupling

    DEFF Research Database (Denmark)

    Kenitz, Kasia; Visser, Andre; Mariani, Patrizio

    2017-01-01

    The seasonal forcing of pelagic communities invokes a succession of the dominant phytoplankton and zooplankton species. Here, we characterize the seasonal succession of the plankton traits and their interactions using observations and model simulations of the plankton community in the western...... English Channel. We focus on activity traits that characterize the defensive and feeding abilities of zooplankton and distinguish between low risk, low return ambush feeders and high risk, high return feeding-current feeders. While the phytoplankton succession depends on traits related to nutrient...... non-motile cells flourishing in spring and motile community dominating during summer. The zooplankton community is dominated by active feeding-current feeders with peak biomass in the late spring declining during summer. The model reveals how zooplankton grazing reinforces protist plankton seasonal...

  5. Edwards' syndrome.

    Science.gov (United States)

    Crawford, Doreen; Dearmun, Annette

    2016-12-08

    Edwards' syndrome is a serious genetic condition that affects fetal cellular functions, tissue development and organogenesis. Most infants with the syndrome are female, but there is no race predominance.

  6. Metabolic Syndrome

    Science.gov (United States)

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

  7. Angelman Syndrome

    Science.gov (United States)

    ... this syndrome often display hyperactivity, small head size, sleep disorders, and movement and balance disorders that can cause ... this syndrome often display hyperactivity, small head size, sleep disorders, and movement and balance disorders that can cause ...

  8. Lynch Syndrome

    Science.gov (United States)

    ... colon cancer may include surgery, chemotherapy and radiation therapy. Cancer screening for people with Lynch syndrome If you ... et al. Milestones of Lynch syndrome: 1895-2015. Nature Reviews Cancer. http://www.nature.com/nrc/journal/vaop/ncurrent/ ...

  9. 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 ...

  10. Paraneoplastic Syndromes

    Science.gov (United States)

    ... dementia, seizures, sensory loss in the limbs, and vertigo or dizziness. Paraneoplastic syndromes include Lambert-Eaton myasthenic ... dementia, seizures, sensory loss in the limbs, and vertigo or dizziness. Paraneoplastic syndromes include Lambert-Eaton myasthenic ...

  11. 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 ...

  12. Dravet Syndrome

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  13. Apert Syndrome.

    Science.gov (United States)

    Datta, Saikat; Saha, Sandip; Kar, Arnab; Mondal, Souvonik; Basu, Syamantak

    2014-09-01

    Apert syndrome is one of the craniosynostosis syndromes which, due to its association with other skeletal anomalies, is also known as acrocephalosyndactyly. It is a rare congenital anomaly which stands out from other craniosynostosis due to its characteristic skeletal presentations.

  14. 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

  15. 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.

  16. Velocardiofacial Syndrome

    Science.gov (United States)

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

    2009-01-01

    Velocardiofacial syndrome (VCFS), also known as DiGeorge, conotruncal anomaly face, and Cayler syndromes, is caused by a microdeletion in the long arm of Chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the…

  17. Fraser syndrome

    Directory of Open Access Journals (Sweden)

    Kalpana Kumari M

    2008-04-01

    Full Text Available Fraser syndrome or cryptophthalmos is a rare autosomal recessive disorder characterized by major features such as cryptophthalmos, syndactyly and abnormal genitalia. The diagnosis of this syndrome can be made on clinical examination and perinatal autopsy. We present the autopsy findings of a rare case of Fraser syndrome in a male infant.

  18. Rowell syndrome

    Directory of Open Access Journals (Sweden)

    Ramesh Y Bhat

    2014-01-01

    Full Text Available Rowell syndrome is a rare disease consisting of erythema multiforme-like lesions associated with lupus erythematosus. The syndrome occurs mostly in middle-aged women. The authors describe the syndrome in a 15-year-old boy who responded well to systemic steroids and hydroxychloroquine.

  19. 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.

  20. 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.

  1. 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

  2. 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.

  3. [Metabolic syndrome].

    Science.gov (United States)

    Mitsuishi, Masanori; Miyashita, Kazutoshi; Itoh, Hiroshi

    2009-02-01

    Metabolic syndrome, which is consisted of hypertension, dyslipidemia and impaired glucose tolerance, is one of the most significant lifestyle-related disorders that lead to cardiovascular diseases. Among many upstream factors that are related to metabolic syndrome, obesity, especially visceral obesity, plays an essential role in its pathogenesis. In recent studies, possible mechanisms which connect obesity to metabolic syndrome have been elucidated, such as inflammation, abnormal secretion of adipokines and mitochondrial dysfunction. In this review, we focus on the relationship between obesity and metabolic syndrome; and illustrate how visceral obesity contributes to, and how the treatments for obesity act on metabolic syndrome.

  4. Landscape Variation in Plant Defense Syndromes across a Tropical Rainforest

    Science.gov (United States)

    McManus, K. M.; Asner, G. P.; Martin, R.; Field, C. B.

    2014-12-01

    Plant defenses against herbivores shape tropical rainforest biodiversity, yet community- and landscape-scale patterns of plant defense and the phylogenetic and environmental factors that may shape them are poorly known. We measured foliar defense, growth, and longevity traits for 345 canopy trees across 84 species in a tropical rainforest and examined whether patterns of trait co-variation indicated the existence of plant defense syndromes. Using a DNA-barcode phylogeny and remote sensing and land-use data, we investigated how phylogeny and topo-edaphic properties influenced the distribution of syndromes. We found evidence for three distinct defense syndromes, characterized by rapid growth, growth compensated by defense, or limited palatability/low nutrition. Phylogenetic signal was generally lower for defense traits than traits related to growth or longevity. Individual defense syndromes were organized at different taxonomic levels and responded to different spatial-environmental gradients. The results suggest that a diverse set of tropical canopy trees converge on a limited number of strategies to secure resources and mitigate fitness losses due to herbivory, with patterns of distribution mediated by evolutionary histories and local habitat associations. Plant defense syndromes are multidimensional plant strategies, and thus are a useful means of discerning ecologically-relevant variation in highly diverse tropical rainforest communities. Scaling this approach to the landscape level, if plant defense syndromes can be distinguished in remotely-sensed data, they may yield new insights into the role of plant defense in structuring diverse tropical rainforest communities.

  5. [Autoinflammatory syndrome].

    Science.gov (United States)

    Ida, Hiroaki; Eguchi, Katsumi

    2009-03-01

    The autoinflammatory syndromes include a group of inherited diseases that are characterized by 1) seemingly unprovoked episodes of systemic inflammations, 2) absence of high titer of autoantibody or auto-reactive T cell, and 3) inborn error of innate immunity. In this article, we will focus on the clinical features, the pathogenesis related the genetic defects, and the therapeutic strategies in the representative disorders including familial Mediterranean fever (FMF), TNF receptor associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), hyper-IgD with periodic fever syndrome (HIDS), syndrome of pyogenic arthritis with pyoderma gangrenosum and acne (PAPA), and Blau syndrome. Recent advances in genetics and molecular biology have proceeded our understanding of the pathogenesis of autoinflammatory syndromes.

  6. 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

  7. 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.

  8. Stability of personality traits in adulthood

    OpenAIRE

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

    2013-01-01

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

  9. A trait database for marine copepods

    DEFF Research Database (Denmark)

    Brun, Philipp Georg; Payne, Mark; Kiørboe, Thomas

    2017-01-01

    The trait-based approach is gaining increasing popularity in marine plankton ecology but the field urgently needs more and easier accessible trait data to advance.We compiled trait information on marine pelagic copepods, a major group of zooplankton, from the published literature and from experts...

  10. Personality Traits, Learning and Academic Achievements

    Science.gov (United States)

    Jensen, Mikael

    2015-01-01

    There has been an increased interest in personality traits (especially the five-factor model) in relation to education and learning over the last decade. Previous studies have shown a relation between personality traits and learning, and between personality traits and academic achievement. The latter is typically described in terms of Grade Point…

  11. Wellens' syndrome

    Directory of Open Access Journals (Sweden)

    Franco Lai

    2007-12-01

    Full Text Available We report a case of quite rare cause of thoracic pain suspected by emergency physician as Wellens’ syndrome. Wellens’ syndrome is a pattern of electrocardiographic T-wave changes associated with critical, proximal left anterior descending artery (LAD. This syndrome is about 10-15% of all unstable angina in emergency department (ED. The cardiologic consult was obtained in ED and it was not conclusive for a Wellens’ syndrome, so that the diagnostistic planning was wrong. The authors point out the importance of this syndrome in ED and the necessity of an urgent angiographic study as every acute coronary syndrome presented in ED. We remark the importance in ED to recognize these changes associated with critical LAD obstruction and the high risk for anterior wall myocardial infarction.

  12. [Autoinflammatory syndromes].

    Science.gov (United States)

    Lamprecht, P; Gross, W L

    2009-06-01

    In its strict sense, the term "autoinflammatory syndromes" comprises the hereditary periodic fever syndromes (HPF), which are caused by mutations of pattern-recognition receptors (PRR) and perturbations of the cytokine balance. These include the crypyrinopathies, familial Mediterranean fever, TNF-receptor associated periodic fever syndrome (TRAPS), hyper-IgD and periodic syndrome (HIDS), pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA) syndrome, NALP12-HPF, and the Blau syndrome. The diseases are characterized by spontaneous activation of cells of the innate immunity in the absence of ligands. Autoantibodies are usually not found. HPF clinically present with recurrent fever episodes and inflammation, especially of serosal and synovial interfaces and the skin. Intriguingly, PRR-mediated autoinflammtory mechanisms also play a role in a number of chronic inflammatory and autoimmune diseases.

  13. Quantitative trait loci for flowering time and morphological traits in multiple populations of Brassica rapa

    NARCIS (Netherlands)

    Lou, P.; Jianjun Zhao, Jianjun; Kim, J.S.; Shen, Shuxing; Pino del Carpio, D.; Song, Xiaofei; Jin, M.; Vreugdenhil, D.; Wang, Xiaowu; Koornneef, M.; Bonnema, A.B.

    2007-01-01

    Wide variation for morphological traits exists in Brassica rapa and the genetic basis of this morphological variation is largely unknown. Here is a report on quantitative trait loci (QTL) analysis of flowering time, seed and pod traits, growth-related traits, leaf morphology, and turnip formation in

  14. 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

  15. 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.

  16. Urofacial syndrome

    Directory of Open Access Journals (Sweden)

    Kamal F Akl

    2012-01-01

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

  17. Gorlin syndrome

    Directory of Open Access Journals (Sweden)

    Basanti Devi

    2013-01-01

    Full Text Available Gorlin Syndrome, a rare genodermatosis, otherwise known as Nevoid basal cell carcinoma syndrome (NBCCS is a multisystem disease affecting skin, nervous system, eyes, endocrine glands, and bones. It is characterized by multiple basal cell carcinomas, palmoplantar pits, jaw cysts, and bony deformities like kyphoscoliosis and frontal bossing. We would like to report a case of Gorlin syndrome with classical features, as this is a rare genodermatosis.

  18. Gorlin syndrome.

    Science.gov (United States)

    Devi, Basanti; Behera, Binodini; Patro, Sibasish; Pattnaik, Subhransu S; Puhan, Manas R

    2013-05-01

    Gorlin Syndrome, a rare genodermatosis, otherwise known as Nevoid basal cell carcinoma syndrome (NBCCS) is a multisystem disease affecting skin, nervous system, eyes, endocrine glands, and bones. It is characterized by multiple basal cell carcinomas, palmoplantar pits, jaw cysts, and bony deformities like kyphoscoliosis and frontal bossing. We would like to report a case of Gorlin syndrome with classical features, as this is a rare genodermatosis.

  19. Heritability of Cardiovascular and Personality Traits in 6,148 Sardinians

    Science.gov (United States)

    Scuteri, Angelo; Orrú, Marco; Albai, Giuseppe; Dei, Mariano; Lai, Sandra; Usala, Gianluca; Lai, Monica; Loi, Paola; Mameli, Cinzia; Vacca, Loredana; Deiana, Manila; Olla, Nazario; Masala, Marco; Cao, Antonio; Najjar, Samer S; Terracciano, Antonio; Nedorezov, Timur; Sharov, Alexei; Zonderman, Alan B; Abecasis, Gonçalo R; Costa, Paul; Lakatta, Edward; Schlessinger, David

    2006-01-01

    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 in young and old

  20. 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

  1. Down Syndrome: Eye Problems

    Science.gov (United States)

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

  2. Facts about Down Syndrome

    Science.gov (United States)

    ... Down syndrome. View charts » What is Down Syndrome? Down syndrome is a condition in which a person ... in height as children and adults Types of Down Syndrome There are three types of Down syndrome. People ...

  3. Quantitative genetics of disease traits.

    Science.gov (United States)

    Wray, N R; Visscher, P M

    2015-04-01

    John James authored two key papers on the theory of risk to relatives for binary disease traits and the relationship between parameters on the observed binary scale and an unobserved scale of liability (James Annals of Human Genetics, 1971; 35: 47; Reich, James and Morris Annals of Human Genetics, 1972; 36: 163). These two papers are John James' most cited papers (198 and 328 citations, November 2014). They have been influential in human genetics and have recently gained renewed popularity because of their relevance to the estimation of quantitative genetics parameters for disease traits using SNP data. In this review, we summarize the two early papers and put them into context. We show recent extensions of the theory for ascertained case-control data and review recent applications in human genetics.

  4. FRIENDSHIP FUNCTIONS AND PERSONALITY TRAITS

    Directory of Open Access Journals (Sweden)

    Ivana Pedovic

    2009-09-01

    Full Text Available The goal of our study was exploration of the factor structure of the MFQ-FF inventory on a sample from Serbian population, and the relations of measures from this inventory (friendship functions with personality traits, as operationalized by the seven factor model proposed by Tellegen and Waller. For this purpose 154 University of Nis students completed the Serbian version of the MFQ-FF inventory and Lexi-70. The results show that factor structures of certain MFQ-FF scales devia-te somewhat from theoretical expectations. Confirmatory factor analysis produced relatively poor levels of fit, while exploratory factor analysis showed that loadings of five items differ substantially from theoretical expectations. As for correlations with personality traits, evaluative dimensions and negative emotionality were found to correlate with the MFQ-FF general factor, and correlations of specific functions with Openness to experience, Positive emotionality and Consciousness were also found. All obtained correlations were low.

  5. On the reality and relevance of traits.

    Science.gov (United States)

    Stagner, R

    1977-04-01

    A review of published research on traits of personality is focused on the controversy over situationism vs. trait theory. Extreme emphasis on situationism is interpreted as a return to the atomistic psychologies of Wundt, Titchener, Watson, and Weiss. Available data are interpreted to indicate that "trait" can be defined operationally, that existing measures are adequately reliable, and that stability over long periods of time contradicts the situationist thesis. Trait measures predict behavior in the laboratory, in education, and industry. The trait construct should be retained in the vocabulary of scientific psychology.

  6. Phishing, Personality Traits and Facebook

    OpenAIRE

    2013-01-01

    Phishing attacks have become an increasing threat to online users. Recent research has begun to focus on the factors that cause people to respond to them. Our study examines the correlation between the Big Five personality traits and email phishing response. We also examine how these factors affect users behavior on Facebook, including posting personal information and choosing Facebook privacy settings. Our research shows that when using a prize phishing email, we find a strong correlation be...

  7. Current concepts on gingival fibromatosis-related syndromes.

    Science.gov (United States)

    Poulopoulos, Athanasios; Kittas, Dimitrios; Sarigelou, Asimina

    2011-08-01

    Gingival fibromatosis is a rare, benign, slowly-growing fibrous overgrowth of the gingiva, with great genetic and clinical heterogeneity. Gingival fibromatosis/overgrowth can be inherited as an isolated trait (hereditary gingival fibromatosis) and/or as a component of a syndrome, or it can be drug induced. As a clinical manifestation of a syndrome, gingival fibromatosis is usually associated with generalized hypertrichosis, mental retardation, or epilepsy. Gingival fibromatosis and its related syndromes are mainly inherited in an autosomal-dominant manner, but autosomal-recessive inheritance has also been reported. Clinical syndromic presentation includes Zimmermann-Laband syndrome, Ramon syndrome, Rutherford syndrome, Cowden syndrome, Cross syndrome, Göhlich-Ratmann syndrome, Avani syndrome, and I-cell disease. However, a phenotypic overlap has been suggested, as many combinations of their systemic manifestations have been reported. Treatment of choice is usually gingivectomy with gingivoplasty. Before any therapy, clinical practitioners must take into consideration the clinical course of a particular syndrome and every possible functional and esthetic disorder.

  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. Genetics of metabolic syndrome.

    Science.gov (United States)

    Stančáková, Alena; Laakso, Markku

    2014-12-01

    Metabolic syndrome (MetS) is a cluster of metabolic traits associated with an increased risk of cardiovascular disease and type 2 diabetes mellitus. Central obesity and insulin resistance are thought to play key roles in the pathogenesis of the MetS. The MetS has a significant genetic component, and therefore linkage analysis, candidate gene approach, and genome-wide association (GWA) studies have been applied in the search of gene variants for the MetS. A few variants have been identified, located mostly in or near genes regulating lipid metabolism. GWA studies for the individual components of the MetS have reported several loci having pleiotropic effects on multiple MetS-related traits. Genetic studies have provided so far only limited evidence for a common genetic background of the MetS. Epigenetic factors (DNA methylation and histone modification) are likely to play important roles in the pathogenesis of the MetS, and they might mediate the effects of environmental exposures on the risk of the MetS. Further research is needed to clarify the role of genetic variation and epigenetic mechanisms in the development of the MetS.

  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. Poland syndrome

    OpenAIRE

    Chandra Madhur Sharma; Shrawan Kumar; Meghwani, Manoj K.; Agrawal, Ravi P.

    2014-01-01

    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.

  14. 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.

  15. 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 ...

  16. LEOPARD syndrome

    Science.gov (United States)

    ... L, Strano S, Carbone A, Calvieri C, Giustini S. LEOPARD syndrome. Dermatol Online J . 2008;14(3):7. PMID: 18627709 www.ncbi.nlm.nih.gov/pubmed/18627709 . Sarkozy A, Digilio MC, Dallapiccola B. LEOPARD syndrome. Orphanet J Rare Dis . 2008;3:13. PMID: ...

  17. Wallenberg's Syndrome

    Science.gov (United States)

    ... way, which makes it difficult to keep their balance when they walk. Treatment Treatment for Wallenberg's syndrome is symptomatic. A feeding ... way, which makes it difficult to keep their balance when they walk. Treatment Treatment for Wallenberg's syndrome is symptomatic. A feeding ...

  18. 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.

  19. 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....

  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. 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.

  2. 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.

  3. Takotsubo syndrome and brachydactyly: a new heart-hand syndrome?

    Science.gov (United States)

    Danese, C; Bocchini, S; Rubini, G; Nardi, M; Amato, S

    2011-01-01

    The Takotsubo syndrome (TTS) is a transient myocardic hypoadyskinesis so called for its typically aspect like the cages used by Japanese fisherman to trap octopus. Presently, several etiologies were considered for the development of TTS, the most accredited ones suggest that stress, adrenoreceptor hyperactivity and estrogens are the most important causes of transient morphofunctional alterations of left ventricle. We describe the case of 60 year-old woman with a chest pain occurred after a quarrel. Because of this, she went to the Emergency Department (ED) where T wave flat in lead D-I, increase of CK-MB mass and Troponin I were found. Subsequently, a coronary-ventriculography was performed and a diagnosis of Takotsubo syndrome was made. Also a bilateral IV toe brachydactyly was noted. In medical literature, there are many syndromes described about the association between skeletal alteration of the hands and heart abnormalities (heart-hand syndrome). The Authors wonder if this case can belong to this kind of complex malformations as well as if a molecular-genetic trait can link the two clinical aspects.

  4. CHARGE syndrome

    Directory of Open Access Journals (Sweden)

    Prasad Chitra

    2006-09-01

    Full Text Available Abstract CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness. In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1–1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot occur in 75–80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness. Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child

  5. 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...

  6. 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

  7. 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.

  8. 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.

  9. CLOVES syndrome.

    Science.gov (United States)

    Bloom, Jacob; Upton, Joseph

    2013-12-01

    A cohort of patients with overgrowth syndromes has been identified with congenital lipomatous overgrowth, dysregulated fat deposits, and mixed vascular malformations. The acronym CLOVES was given on a heuristic basis to stand for congenital lipomatous overgrowth (CLO), vascular malformation (V), epidermal nevi (E), and scoliosis and spinal deformities (S). These patients have upper limb anomalies with variable phenotypes. Although hand anomalies alone cannot make the diagnosis, the foot, truncal, cutaneous and spinal anomalies are particularly diagnostic. CLOVES syndrome has emerged as a distinct clinical entity diagnosed by clinical and radiographic examinations. The overgrowth pattern is now easily distinguished from other overgrowth syndromes.

  10. 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.

  11. Unusual association of Saethre-Chotzen syndrome and congenital adrenal hyperplasia.

    Science.gov (United States)

    Escobar, V; Brandt, I K; Bixler, D

    1977-05-01

    This report describes and discusses the very rare occurrence of two heritable traits, the Saethre-Chotzen syndrome and congenital adrenal hyperplasia (21 hydroxylase deficiency, salt-losing type) in a female infant whose father presents the clinical manifestations of Saethre-Chotzen syndrome. Family study revealed no other instances of the recessively inherited adrenogenital syndrome. Other literature cases combining acrocephalosyndactyly and urogenital anomalies are discussed and compared.

  12. Spontaneous Trait Inferences on Social Media

    Science.gov (United States)

    Utz, Sonja

    2016-01-01

    The present research investigates whether spontaneous trait inferences occur under conditions characteristic of social media and networking sites: nonextreme, ostensibly self-generated content, simultaneous presentation of multiple cues, and self-paced browsing. We used an established measure of trait inferences (false recognition paradigm) and a direct assessment of impressions. Without being asked to do so, participants spontaneously formed impressions of people whose status updates they saw. Our results suggest that trait inferences occurred from nonextreme self-generated content, which is commonly found in social media updates (Experiment 1) and when nine status updates from different people were presented in parallel (Experiment 2). Although inferences did occur during free browsing, the results suggest that participants did not necessarily associate the traits with the corresponding status update authors (Experiment 3). Overall, the findings suggest that spontaneous trait inferences occur on social media. We discuss implications for online communication and research on spontaneous trait inferences. PMID:28123646

  13. Detection of quantitative trait loci affecting haematological traits in swine via genome scanning

    Directory of Open Access Journals (Sweden)

    Niu Xiao-Yan

    2010-06-01

    Full Text Available Abstract Background Haematological traits, which consist of mainly three components: leukocyte traits, erythrocyte traits and platelet traits, play extremely important role in animal immune function and disease resistance. But knowledge of the genetic background controlling variability of these traits is very limited, especially in swine. Results In the present study, 18 haematological traits (7 leukocyte traits, 7 erythrocyte traits and 4 platelet traits were measured in a pig resource population consisting of 368 purebred piglets of three breeds (Landrace, Large White and Songliao Black Pig, after inoculation with the swine fever vaccine when the pigs were 21 days old. A whole-genome scan of QTL for these traits was performed using 206 microsatellite markers covering all 18 autosomes and the X chromosome. Using variance component analysis based on a linear mixed model and the false discovery rate (FDR test, 35 QTL with FDR FDR FDR Conclusions Very few QTL were previously identified for hematological traits of pigs and never in purebred populations. Most of the QTL detected here, in particular the QTL for the platelet traits, have not been reported before. Our results lay important foundation for identifying the causal genes underlying the hematological trait variations in pigs.

  14. 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.

  15. [Autoinflammatory syndromes/fever syndromes].

    Science.gov (United States)

    Schedel, J; Bach, B; Kümmerle-Deschner, J B; Kötter, I

    2011-05-01

    Hereditary periodic (fever) syndromes, also called autoinflammatory syndromes, are characterized by relapsing fever and additional manifestations such as skin rashes, mucosal manifestations, or joint symptoms. Some of these disorders present with organ involvement and serological signs of inflammation without fever. There is a strong serological inflammatory response with an elevation of serum amyloid A (SAA), resulting in an increased risk of secondary amyloidosis. There are monogenic disorders (familial mediterranean fever (FMF), hyper-IgD-syndrome (HIDS), cryopyrin-associated periodic syndromes (CAPS), "pyogenic arthritis, acne, pyoderma gangrenosum" (PAPA), and "pediatric granulomatous arthritis (PGA) where mutations in genes have been described, which in part by influencing the function of the inflammasome, in part by other means, lead to the induction of the production of IL-1β. In "early-onset of enterocolitis (IBD)", a functional IL-10 receptor is lacking. Therapeutically, above all, the IL-1 receptor antagonist anakinra is used. In case of TRAPS and PGA, TNF-antagonists (etanercept) may also be used; in FMF colchicine is first choice. As additional possible autoinflammatory syndromes, PFAPA syndrome (periodic fever with aphthous stomatitis, pharyngitis and adenitis), Schnitzler syndrome, Still's disease of adult and pediatric onset, Behçet disease, gout, chronic recurrent multifocal osteomyelitis (CRMO) and Crohn's disease also are mentioned.

  16. Social personality trait and fitness.

    Science.gov (United States)

    Cote, J; Dreiss, A; Clobert, J

    2008-12-22

    Several recent studies have explored various aspects of animal personality and their ecological consequences. However, the processes responsible for the maintenance of personality variability within a population are still largely unknown. We have recently demonstrated that social personality traits exist in the common lizard (Lacerta vivipara) and that the variation in sociability provides an explanation for variable dispersal responses within a given species. However, we need to know the fitness consequences of variation in sociability across environmental contexts in order to better understand the maintenance of such variation. In order to achieve this, we investigated the relationship between sociability and survival, body growth and fecundity, in one-year-old individuals in semi-natural populations with varying density. 'Asocial' and 'social' lizards displayed different fitness outcomes in populations of different densities. Asocial lizards survived better in low-density populations, while social females reproduced better. Spatiotemporal variation in environmental conditions might thus be the process underlying the maintenance of these personality traits within a population. Finally, we also discuss the position of sociability in a more general individual behavioural pattern including boldness, exploration and aggressiveness.

  17. Noonan syndrome

    Science.gov (United States)

    ... chest shape (most often a sunken chest called pectus excavatum) Webbed and short-appearing neck Exams and Tests ... to consider genetic counseling before having children. Images Pectus excavatum References Ali O, Donohoue PA. Noonan syndrome. In: ...

  18. Marfan syndrome

    Science.gov (United States)

    ... at least once every year. Alternative Names Aortic aneurysm - ... syndrome. In: Kliegman RM, Stanton BF, St Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics . 20th ed. Philadelphia, PA: Elsevier; 2016:chap 702. ...

  19. Usher Syndrome

    Science.gov (United States)

    ... optic nerve (arrow) looks very pale, the vessels (stars) are very thin and there is characteristic pigment, ... syndrome gene have a child together, with each birth there is a: 1-in-4 chance of ...

  20. Bart syndrome

    Directory of Open Access Journals (Sweden)

    Gaikwad Anil

    1993-01-01

    Full Text Available An infant presenting with extensive aplasia cutis on lower extremities later developed blisters on skin and mucous membrane. Clinical features and histopathological examination of skin favoured the diagnosis of Bart syndrome.

  1. Beals Syndrome

    Science.gov (United States)

    ... arachnoldactyly (CCA), which refers to the joint contractures (shortening) that are key features of the syndrome. How ... remain contracted for long periods of time, the muscles can become tight and short, restricting movement. When ...

  2. Isaac's Syndrome

    Science.gov (United States)

    ... Page NINDS Wernicke-Korsakoff Syndrome Information Page NINDS Whiplash Information Page NINDS Infantile Spasms Information Page NINDS ... Support Library Clinical Research Next Steps Pre-Funding: After Review Terms of Award Pre-Award Start-up ...

  3. Zellweger Syndrome

    Science.gov (United States)

    ... Page NINDS Wernicke-Korsakoff Syndrome Information Page NINDS Whiplash Information Page NINDS Infantile Spasms Information Page NINDS ... Support Library Clinical Research Next Steps Pre-Funding: After Review Terms of Award Pre-Award Start-up ...

  4. Neurocutaneous Syndromes

    Science.gov (United States)

    ... affect kids include: neurofibromatosis, types 1 and 2 (NF1 and NF2) Sturge-Weber syndrome tuberous sclerosis (TS) ... forms of this disorder are neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and Schwannomatosis. NF1 is ...

  5. [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.

  6. Autoinflammatory syndromes.

    Science.gov (United States)

    Galeazzi, M; Gasbarrini, G; Ghirardello, A; Grandemange, S; Hoffman, H M; Manna, R; Podswiadek, M; Punzi, L; Sebastiani, G D; Touitou, I; Doria, A

    2006-01-01

    The autoinflammatory disorders are a new and expanding classification of inflammatory diseases characterized by recurrent episodes of systemic inflammation in the absence of pathogens, autoantibodies or antigen specific T cells. These disorders are caused by primary dysfunction of the innate immune system, without evidence of adaptive immune dysregulation. Innate immune abnormalities include aberrant responses to pathogen associated molecular patterns (PAMPs) like lipopolysaccharide and peptidoglycan, prominent neutrophilia in blood and tissues, and dysregulation of inflammatory cytokines (IL-1beta, TNF-alpha) or their receptors. The autoinflammatory diseases comprise both hereditary (Familial Mediterranean Fever, FMF; Mevalonate Kinase Deficiency, MKD; TNF Receptor Associated Periodic Syndrome, TRAPS; Cryopyrin Associated Periodic Syndrome, CAPS; Blau syndrome; Pyogenic sterile Arthritis, Pyoderma gangrenosum and Acne syndrome, PAPA; Chronic Recurrent Multifocal Osteomyelitis, CRMO) and multifactorial (Crohn's and Behçet's diseases) disorders. Mutations responsible for FMF, TRAPS, CAPS, PAPA are in proteins involved in modulation of inflammation and apoptosis.

  7. [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.

  8. Barth Syndrome

    DEFF Research Database (Denmark)

    Saric, Ana; Andreau, Karine; Armand, Anne-Sophie

    2016-01-01

    Mutations in the gene encoding the enzyme tafazzin, TAZ, cause Barth syndrome (BTHS). Individuals with this X-linked multisystem disorder present cardiomyopathy (CM) (often dilated), skeletal muscle weakness, neutropenia, growth retardation, and 3-methylglutaconic aciduria. Biopsies of the heart,...

  9. Cockayne syndrome

    DEFF Research Database (Denmark)

    Karikkineth, Ajoy C; Scheibye-Knudsen, Morten; Fivenson, Elayne;

    2017-01-01

    Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties...

  10. Gardner Syndrome

    Science.gov (United States)

    ... or central nervous system tumor less than 1% Stomach cancer 0.5% Bile duct cancer small, but increased Adrenal gland cancer small, but increased What are the screening options for Gardner syndrome? The screening options for ...

  11. Metabolic syndrome

    Science.gov (United States)

    ... obesity ). This body type may be described as "apple-shaped." Insulin resistance. Insulin is a hormone produced ... Syndrome Browse the Encyclopedia A.D.A.M., Inc. is accredited by URAC, also known as the ...

  12. Down Syndrome

    Science.gov (United States)

    ... Diagnostic tests that can identify Down syndrome include: Amniocentesis. A sample of the amniotic fluid surrounding the ... somewhat higher risk of miscarriage than second trimester amniocentesis. Cordocentesis. In this test, also known as percutaneous ...

  13. Turner Syndrome

    Science.gov (United States)

    ... in the inner layer of the aorta (aortic dissection). A defect in the valve between the heart ... Turner syndrome are at increased risk of aortic dissection during pregnancy, they should be evaluated by a ...

  14. A trait database for marine copepods

    Science.gov (United States)

    Brun, Philipp; Payne, Mark R.; Kiørboe, Thomas

    2017-02-01

    The trait-based approach is gaining increasing popularity in marine plankton ecology but the field urgently needs more and easier accessible trait data to advance. We compiled trait information on marine pelagic copepods, a major group of zooplankton, from the published literature and from experts and organized the data into a structured database. We collected 9306 records for 14 functional traits. Particular attention was given to body size, feeding mode, egg size, spawning strategy, respiration rate, and myelination (presence of nerve sheathing). Most records were reported at the species level, but some phylogenetically conserved traits, such as myelination, were reported at higher taxonomic levels, allowing the entire diversity of around 10 800 recognized marine copepod species to be covered with a few records. Aside from myelination, data coverage was highest for spawning strategy and body size, while information was more limited for quantitative traits related to reproduction and physiology. The database may be used to investigate relationships between traits, to produce trait biogeographies, or to inform and validate trait-based marine ecosystem models. The data can be downloaded from PANGAEA, http://dx.doi.org/10.1594/PANGAEA.862968" target="_blank">doi:10.1594/PANGAEA.862968.

  15. Eagle's Syndrome

    OpenAIRE

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

    2013-01-01

    Summary Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is diffic...

  16. SAPHO syndrome.

    Science.gov (United States)

    Carneiro, Sueli; Sampaio-Barros, Percival D

    2013-05-01

    SAPHO syndrome is a disorder characterized by Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis. As the osteoarticular and skin manifestations often do not occur simultaneously and there are no validated diagnostic criteria, the diagnosis can be difficult. Clinical and imaging investigation is necessary to establish the many differential diagnoses of SAPHO syndrome. The etiopathogenesis involves infectious (probably Propionibacterium acnes), immunologic, and genetic factors. Treatment is based on information gathered from case reports and small series, and is related to specific skin or articular symptoms.

  17. Carpenter syndrome.

    Science.gov (United States)

    Hidestrand, Pip; Vasconez, Henry; Cottrill, Carol

    2009-01-01

    Carpenter syndrome is a rare autosomal recessive disorder that belongs to a group of rare craniosynostosis syndromes (Bull Soc Med Paris 1906;23:1310). Carpenter syndrome is the rarest, with only occasional patients seen. There are 3 common features in all of these syndromes: craniosynostosis (skull base abnormalities, with early fusion in different sutures), midface hypoplasia, and musculoskeletal abnormalities. Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue syndactyly, obesity, hypogenitalism, congenital heart disease, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106). The brachycephaly is caused by early fusion in the coronal, sagittal, and lambdoidal sutures (Proc R Soc Med Sect Study Dis Child 1909). Most of the affected patients have a surgical procedure between 3 to 9 months of age to open the cranial vault to make space for the brain to grow (Plast Reconstr Surg 1978;62:335). We present a patient with Carpenter syndrome who is unusual in that she is an adult who has never had surgical intervention.

  18. 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...

  19. 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...

  20. Gorlin-Goltz Syndrome: Case report and literature review.

    Science.gov (United States)

    Ramesh, Maya; Krishnan, Ramesh; Chalakkal, Paul; Paul, George

    2015-01-01

    Gorlin-Goltz syndrome (GGS) is an infrequent multisystemic disease with an autosomal dominant trait, with complete penetrance and variable expressivity, though sporadic cases have been described. This article includes a case report and an extensive review of the GGS with regard to its history, incidence, etiology, features, investigations, diagnostic criteria, keratocystic odontogenic tumor and treatment modalities.

  1. Goltz-Gorlin Syndrome: Case report and literature review

    Directory of Open Access Journals (Sweden)

    Maya Ramesh

    2015-01-01

    Full Text Available Goltz-Gorlin syndrome (GGS is an infrequent multisystemic disease with an autosomal dominant trait, with complete penetrance and variable expressivity, though sporadic cases have been described. This article includes a case report and an extensive review of the GGS with regard to its history, incidence, etiology, features, investigations, diagnostic criteria, keratocystic odontogenic tumor and treatment modalities.

  2. Juvenile Polyposis Syndrome

    Science.gov (United States)

    ... Types of Cancer > Juvenile Polyposis Syndrome Request Permissions Juvenile Polyposis Syndrome Approved by the Cancer.Net Editorial Board , 12/2015 What is juvenile polyposis syndrome? Juvenile polyposis syndrome (JPS) is a ...

  3. Cardiac Syndrome X

    Science.gov (United States)

    ... Kawasaki Disease Long Q-T Syndrome Marfan Syndrome Metabolic Syndrome Mitral Valve Prolapse Myocardial Bridge Myocarditis Obstructive Sleep Apnea Pericarditis Peripheral Vascular Disease Rheumatic Fever Sick Sinus Syndrome Silent Ischemia Stroke Sudden ...

  4. What is Metabolic Syndrome?

    Science.gov (United States)

    ... from the NHLBI on Twitter. What Is Metabolic Syndrome? Metabolic syndrome is the name for a group of ... that may play a role in causing metabolic syndrome. Outlook Metabolic syndrome is becoming more common due to a ...

  5. Down Syndrome (For Kids)

    Science.gov (United States)

    ... continue Do a Lot of People Have Down Syndrome? Down syndrome is not contagious , so you can't ... have it. What's Life Like for Kids With Down Syndrome? Many kids with Down syndrome go to regular ...

  6. Metabolic Syndrome (For Parents)

    Science.gov (United States)

    ... Old Feeding Your 1- to 2-Year-Old Metabolic Syndrome KidsHealth > For Parents > Metabolic Syndrome A A A ... this is a condition called metabolic syndrome . About Metabolic Syndrome Not to be confused with metabolic disease (which ...

  7. Metabolic Syndrome (For Parents)

    Science.gov (United States)

    ... Old Feeding Your 1- to 2-Year-Old Metabolic Syndrome KidsHealth > For Parents > Metabolic Syndrome Print A A ... this is a condition called metabolic syndrome . About Metabolic Syndrome Not to be confused with metabolic disease (which ...

  8. Gorlin syndrome with bilateral polydactyly: a rare case report.

    Science.gov (United States)

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

    2013-09-01

    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 Rare Case Report. Int J Clin Pediatr Dent 2013;6(3):208-212.

  9. Quantitative trait loci analysis of osteocondrosis traits in the elbow joint of pigs

    DEFF Research Database (Denmark)

    Christensen, O F; Busch, M E; Gregersen, V R;

    2010-01-01

    Osteochondrosis is a growth disorder in the cartilage of young animals and is characterised by lesions found in the cartilage and bone. This study identified quantitative trait loci (QTLs) associated with six osteochondrosis lesion traits in the elbow joint of finishing pigs. The traits were...

  10. 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.

  11. 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.

  12. Fear inhibition in high trait anxiety

    NARCIS (Netherlands)

    Kindt, M.; Soeter, M.

    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 f

  13. Morbidity associated with sickle cell trait carriers

    Directory of Open Access Journals (Sweden)

    Moussa Seck

    2016-12-01

    Conclusions: This work has allowed us to find that the symptoms presented by sickle cell trait patients are dominated by painful events. This morbidity associated with porting sickle cell trait was not secondary to inflammatory or metabolic disorders or physical activity.

  14. A Simple Analysis of an Inherited Trait

    Science.gov (United States)

    Aagaard, Stanley; Keller, Elhannan

    1977-01-01

    Described is a classroom activity for analyzing an inherited human trait, the ability to tast phenylthiocarbamide (PTC). Formulas for analyzing gene frequency are given for classroom and neighborhood samples. Additional tables include statistics on the ability to taste PTC and other easily sampled human traits. (MA)

  15. A Multicomponent Latent Trait Model for Diagnosis

    Science.gov (United States)

    Embretson, Susan E.; Yang, Xiangdong

    2013-01-01

    This paper presents a noncompensatory latent trait model, the multicomponent latent trait model for diagnosis (MLTM-D), for cognitive diagnosis. In MLTM-D, a hierarchical relationship between components and attributes is specified to be applicable to permit diagnosis at two levels. MLTM-D is a generalization of the multicomponent latent trait…

  16. 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.

  17. 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.

  18. 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.

  19. 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...

  20. 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.

  1. Multiple Hamartoma Syndrome with Characteristic Oral and Cutaneous Manifestations

    Directory of Open Access Journals (Sweden)

    Prashanthi Chippagiri

    2013-01-01

    Full Text Available Aim. To present a case of Cowden's syndrome and emphasize the importance of continued cancer surveillance in these patients. Cowden syndrome is an inherited autosomal dominant trait with incomplete penetrance and a range of expressivity. It is characterized by multiple hamartomas and neoplasms. Mucocutaneous features include trichilemmomas, oral mucosal papillomatosis, acral keratosis, and palmoplantar keratosis. Here, we report a case of Cowdens syndrome of a 30-year-old female patient who came with a complaint of multiple growths in the oral cavity of a three-month duration. On examination, multiple skin-colored, flat-topped papules over her forehead and right malar bone and multiple papillomatous papules involving all the mucosal surfaces intraorally were observed. This syndrome is associated with the development of several types of malignancies, especially breast carcinoma and thyroid carcinoma, which is why early recognition and regular and vigilant surveillance of individuals with the syndrome are important.

  2. A Shared Molecular and Genetic Basis for Food and Drug Addiction: Overcoming Hypodopaminergic Trait/State by Incorporating Dopamine Agonistic Therapy in Psychiatry.

    Science.gov (United States)

    Gold, Mark S; Badgaiyan, Rajendra D; Blum, Kenneth

    2015-09-01

    This article focuses on the shared molecular and neurogenetics of food and drug addiction tied to the understanding of reward deficiency syndrome. Reward deficiency syndrome describes a hypodopaminergic trait/state that provides a rationale for commonality in approaches for treating long-term reduced dopamine function across the reward brain regions. The identification of the role of DNA polymorphic associations with reward circuitry has resulted in new understanding of all addictive behaviors.

  3. 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.

  4. [Serotonin syndrome].

    Science.gov (United States)

    Lheureux, P; Penaloza, A; De Cottenier, V; Ullmann, U; Gris, M

    2002-10-01

    The serotonin syndrome is a hyperserotoninergic state resulting from an excess of intrasynaptic 5-hydroxytryptamine, induced by multiple psychotropic agents, but also non psychiatric drugs. It is a potentially dangerous and sometimes lethal condition. The clinical manifestations usually include cognitive, neuromuscular and autonomic features and are mediated by the action of serotonin on various subtypes of receptors. The main differential diagnosis is the neuroleptic malignant syndrome. Treatment is mainly supportive. No pharmacological agent has been definitely demonstrated really effective. However, reports of cases treated with the 5-HT2 blockers, including cyproheptadine or chlorpromazine have suggested that these agents could have some efficacy. Serotonin syndrome is a toxic condition which requires heightened clinical awareness among physicians in order to prevent, recognize, and treat the condition promptly.

  5. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine M; Bodtger, Uffe

    2016-01-01

    necrophorum. We found a total of 137 cases of LS, of which 47 were infected with F. necrophorum and others with Staphylococcus and Streptococcus. Complications of this rare but severe disease included osteomyelitis, meningitis, and acute respiratory distress syndrome. Mortality was extremely high in the pre....../or swelling in the throat or neck, as well as respiratory symptoms. Laboratory findings show elevated infectious parameters and radiological findings show thrombosis of the internal jugular vein and emboli in the lungs or other organs. The syndrome is often associated with an infection with Fusobacterium......This is a systematic review of cases with Lemierre's syndrome (LS) in the past 5 years. LS is characterized by sepsis often evolving after a sore throat or tonsillitis and then complicated by various septic emboli and thrombosis of the internal jugular vein. Symptoms include sepsis, pain, and...

  6. 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.

  7. Postconcussional Syndrome

    Directory of Open Access Journals (Sweden)

    Necla Keskin

    2013-02-01

    Full Text Available Postconcussional syndrome is characterized by somatic, cognitive and psychiatric (emotional, behavioral symptoms that occurs after mild traumatic brain injury. It has been known that these symptoms recover fully within 3-6 months almost in 90% of patients. Although its etiology is still controversial, biological, psychological and social factors may account for the development and continuation of the symptoms. Diagnosis is based on the subjective complaints. To find out an objective method for definite diagnosis, trials searching for both neuroimaging and specific serum biomarkers stil continue. The treatment of the syndrome is mainly of palliative nature. Information, education, reassurance and multifaceted rehabilitation programmes can be beneficial. There are promising trials reporting the effectiveness of cognitive behavioral therapy in the treatment of postconcussional syndrome. [Archives Medical Review Journal 2013; 22(1.000: 96-109

  8. 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.

  9. 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.

  10. Fraser syndrome

    DEFF Research Database (Denmark)

    Barisic, Ingeborg; Odak, Ljubica; Loane, Maria

    2013-01-01

    Fraser syndrome is a rare autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, laryngeal, and urogenital malformations. We present a population-based epidemiological study using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network...... of birth defect registries. Between January 1990 and December 2008, we identified 26 cases of Fraser syndrome in the monitored population of 12,886,464 births (minimal estimated prevalence of 0.20 per 100,000 or 1:495,633 births). Most cases (18/26; 69%) were registered in the western part of Europe, where...... was particularly high (42%). Most cases of Fraser syndrome (85%) are suspected prenatally, often due to the presence of the association of renal agenesis and cryptophthalmos. In the European population, a high proportion (82%) of pregnancies is terminated, thus reducing the live birth prevalence to a third...

  11. Metabolic Syndrome

    Directory of Open Access Journals (Sweden)

    Sevil Ikinci

    2010-10-01

    Full Text Available Metabolic Syndrome is a combination of risk factors including common etiopathogenesis. These risk factors play different roles in occurence of atherosclerotic diseases, type 2 diabetes, and cancers. Although a compromise can not be achieved on differential diagnosis for MS, the existence of any three criterias enable to diagnose MS. These are abdominal obesity, dislipidemia (hypertrigliceridemia, hypercholesterolemia, and reduced high density lipoprotein hypertension, and elevated fasting blood glucose. According to the results of Metabolic Syndrome Research (METSAR, the overall prevalence of MS in Turkey is 34%; in females 40%, and in males it is 28%. As a result of “Western” diet, and increased frequency of obesity, MS is observed in children and in adolescents both in the world and in Turkey. Resulting in chronic diseases, it is thought that the syndrome can be prevented by healthy lifestyle behaviours. [TAF Prev Med Bull 2010; 9(5.000: 535-540

  12. Eagle's Syndrome

    Directory of Open Access Journals (Sweden)

    Pinheiro, Thaís Gonçalves

    2014-01-01

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

  13. [PFAPA syndrome].

    Science.gov (United States)

    André, Suzete Costa Anjos; Vales, Fernando; Cardoso, Eduardo; Santos, Margarida

    2009-01-01

    PFAPA syndrome is characterized by periodic fever, pharyngitis, cervical adenitis and aphthous stomatitis. The bouts of fever can last for days or even weeks. Between crises, patients remain asymptomatic for variable periods. It appears before the age of five and has limited duration (4-8 years). Its aetiopathogeny is unknown. Corticoids are the treatment of choice. Tonsillectomy has been proposed as a solution but remains controversial. We present the case of a 4-year-old girl with PFAPA syndrome who underwent tonsillectomy in January, 2008, and we review the literature.

  14. 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.

  15. 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.

  16. Eisenmengers syndrom

    DEFF Research Database (Denmark)

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

    2009-01-01

    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......-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...

  17. 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.

  18. [Wilkie's syndrome].

    Science.gov (United States)

    Bognár, Gábor; Ledniczky, György; Palik, Eva; Zubek, László; Sugár, István; Ondrejka, Pál

    2008-10-01

    Loss of retroperitoneal fatty tissue as a result of a variety of debilitating conditions and noxa is believed to be the etiologic factor of superior mesenteric artery syndrome. A case of a 35 years old female patient with severe malnutrition and weight loss is presented, who developed superior mesenteric artery syndrome. Various theories of etiology, clinical course and treatment options of this uncommon disease are discussed. In our case, conservative management was inefficient, while surgical treatment aiming to bypass the obstruction by an anastomosis between the jejunum and the proximal duodenum (duodenojejunostomy) was successful. An interdisciplinary teamwork provides the most beneficial diagnostic and therapeutic result in this often underestimated disease.

  19. 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

  20. 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.

  1. 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).

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

    OpenAIRE

    Antonakis, J.

    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 ...

  4. Complex-disease networks of trait-associated single-nucleotide polymorphisms (SNPs) unveiled by information theory

    Science.gov (United States)

    Li, Haiquan; Lee, Younghee; Chen, James L; Rebman, Ellen; Li, Jianrong

    2012-01-01

    Objective Thousands of complex-disease single-nucleotide polymorphisms (SNPs) have been discovered in genome-wide association studies (GWAS). However, these intragenic SNPs have not been collectively mined to unveil the genetic architecture between complex clinical traits. The authors hypothesize that biological annotations of host genes of trait-associated SNPs may reveal the biomolecular modularity across complex-disease traits and offer insights for drug repositioning. Methods Trait-to-polymorphism (SNPs) associations confirmed in GWAS were used. A novel method to quantify trait–trait similarity anchored in Gene Ontology annotations of human proteins and information theory was developed. The results were then validated with the shortest paths of physical protein interactions between biologically similar traits. Results A network was constructed consisting of 280 significant intertrait similarities among 177 disease traits, which covered 1438 well-validated disease-associated SNPs. Thirty-nine percent of intertrait connections were confirmed by curators, and the following additional studies demonstrated the validity of a proportion of the remainder. On a phenotypic trait level, higher Gene Ontology similarity between proteins correlated with smaller ‘shortest distance’ in protein interaction networks of complexly inherited diseases (Spearman p<2.2×10−16). Further, ‘cancer traits’ were similar to one another, as were ‘metabolic syndrome traits’ (Fisher's exact test p=0.001 and 3.5×10−7, respectively). Conclusion An imputed disease network by information-anchored functional similarity from GWAS trait-associated SNPs is reported. It is also demonstrated that small shortest paths of protein interactions correlate with complex-disease function. Taken together, these findings provide the framework for investigating drug targets with unbiased functional biomolecular networks rather than worn-out single-gene and subjective canonical pathway approaches

  5. 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.

  6. Marfan syndrome masked by Down syndrome?

    NARCIS (Netherlands)

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

    2009-01-01

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

  7. 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.

  8. 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.

  9. Dumping Syndrome

    Science.gov (United States)

    ... stomach move to your small intestine in an uncontrolled, abnormally fast manner. This is most often related to changes in your stomach associated with surgery. Dumping syndrome can occur after any stomach operation or removal of the esophagus (esophagectomy). Gastric bypass surgery for ...

  10. Sotos Syndrome

    Science.gov (United States)

    ... 663-4637) Sotos Syndrome Support Association P.O. Box 4626 Wheaton IL Wheaton, IL 60189 info@sotossyndrome.org http://www.sotossyndrome.org/ Tel: 888-246-7772 The Arc of the United States 1825 K Street, NW ...

  11. Reifenstein syndrome

    Science.gov (United States)

    Androgens are most important during early development in the womb. People with Reifenstein syndrome can have a normal lifespan and be totally healthy, but they may have difficulty conceiving a child. In the most severe cases, boys with outer female genitals ...

  12. 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.

  13. 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....

  14. [Waardenburg's syndrome].

    Science.gov (United States)

    Gimñenez, F; Carbonell, R; Pérez, F; Lozano, I

    1994-01-01

    Reporting one case of this condition type-2 with heterochromia iridis and cochlear deafness. The AA. review the syndrome's components and it nomenclature as well. They discuss about the convenience of including this deviation in the chapter of "diseases of the embryonic neural crest". The specific place of the gene responsibly in the chromosome-2 and the possibilities of genetic counselling are considered.

  15. Waardenburg's syndrome.

    Science.gov (United States)

    Yesudian, D P; Jayaraman, M; Janaki, V R; Yesudian, P

    1995-01-01

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

  16. Klinefelter Syndrome

    Directory of Open Access Journals (Sweden)

    Hande Peynirci

    2013-09-01

    Full Text Available Klinefelter syndrome is the most common sex chromosome disorder in males. Variation in clinical presentation and insufficient awareness of this syndrome among clinicians lead to fifty percent of patients remain undetected. Typical clinical features of Klinefelter syndrome are various degrees of hypogonadal symptoms, atrophic testes and gynaecomastia. However, these typical clinical symptoms may not be present in all patients. Even if serum testosterone levels are not markedly low, elevated serum follicle-stimulating hormone is a considerable laboratory finding. Definitive diagnosis is made by karyotype analysis of peripheral blood lymphocytes. It must be kept in mind that this analysis may be normal in rare conditions. Early recognition of patients during puberty and handling them as soon as possible is important. Testosterone replacement therapy results in increased muscle mass, bone mineral density and libido. The patient’s mood and self-esteem improve significantly. In general, patients with Klinefelter syndrome are accepted as infertile, however, assisted reproductive techniques may provide fertilization. Turk Jem 2013; 17: 63-7

  17. Aicardi Syndrome

    Science.gov (United States)

    ... such as lower tone around the head and trunk, microcephaly (small head circumference), and spasticity in the limbs. Typical findings in the brain of girls with Aicardi syndrome include heterotopias , which are groups of brain cells that, during development, migrated to the wrong area ...

  18. 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

  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. Chylomicronemia syndrome

    Science.gov (United States)

    ... the blood. The disorder is passed down through families. Causes Chylomicronemia syndrome can occur due to a rare genetic disorder in which a protein (enzyme) called lipoprotein lipase (LpL) is broken or missing. LpL is normally found in fat and muscle. ...

  1. 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.

  2. 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

  3. Troyer Syndrome

    Science.gov (United States)

    ... atrophy of the hand muscles, developmental delays, fluctuating emotions, and short stature. Onset is typically in early childhood, and symptoms gradually worsen over time. Troyer syndrome is an autosomal recessive disorder (meaning that both parents must carry and pass on the defective gene ...

  4. Caplan syndrome

    Science.gov (United States)

    ... CT scan of the chest Joint x-rays Pulmonary function tests Rheumatoid factor test and other blood tests Treatment There is no specific treatment for Caplan syndrome, other than treating any lung and joint disease. ... MD, MHS, Associate Professor of Medicine, Pulmonary, Allergy, and Critical Care, Perelman School of Medicine, ...

  5. [SAPHO syndrome].

    Science.gov (United States)

    Heldmann, F; Kiltz, U; Baraliakos, X; Braun, J

    2014-10-01

    The SAPHO syndrome, an acronym for synovitis, acne, pustulosis, hyperostosis and osteitis, is a rare disease which affects bones, joints and the skin. The main osteoarticular features are hyperostosis and osteitis. Osteoarticular symptoms predominantly occur on the anterior chest wall but the spine and the peripheral skeleton can also be involved. The most important skin affections are palmoplantar pustulosis and severe acne. The etiology of this syndrome remains unclear but infectious, immunological and genetic factors are involved. The diagnostic features of SAPHO syndrome are clinical and radiological. The most important diagnostic procedure is Tc-99 m bone scintigraphy but conventional x-rays as well as computed tomography (CT) and magnetic resonance imaging (MRI) can also contribute to the final diagnosis. Bone histology and positron emission tomography CT (PET-CT) may help to differentiate SAPHO syndrome from malignancies and infectious osteomyelitis. Nonsteroidal anti-inflammatory drugs (NSAIDs) are the cornerstone of treatment. The results obtained using antibiotics and disease-modifying antirheumatic drugs (DMARDs), such as sulfasalazine and methotrexate are inconsistent. Bisphosphonates and anti-tumor necrosis factor (anti-TNF) drugs have shown promising results in small studies but further research is still necessary.

  6. Bloom syndrome.

    Science.gov (United States)

    Arora, Harleen; Chacon, Anna H; Choudhary, Sonal; McLeod, Michael P; Meshkov, Lauren; Nouri, Keyvan; Izakovic, Jan

    2014-07-01

    Bloom Syndrome (BS, MIM #210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the DNA repair enzyme RecQL3 helicase. Without proper DNA repair mechanisms, abnormal DNA exchange takes place between sister chromatids and results in genetic instability that may lead to cancer, especially lymphoma and acute myelogenous leukemia, lower and upper gastrointestinal tract neoplasias, cutaneous tumors, and neoplasias in the genitalia and urinary tract. BS patients are usually of Ashkenazi Jewish descent and exhibit narrow facial features, elongated limbs, and several dermatologic complications including photosensitivity, poikiloderma, and telangiectatic erythema. The most concerning manifestation of BS is multiple malignancies, which require frequent screenings and strict vigilance by the physician. Therefore, distinguishing between BS and other dermatologic syndromes of similar presentation such as Rothmund-Thomson Syndrome, Erythropoietic Protoporphyria, and Cockayne Syndrome is paramount to disease management and to prolonging life. BS can be diagnosed through a variety of DNA sequencing methods, and genetic testing is available for high-risk populations. This review consolidates several sources on BS sequelae and aims to suggest the importance of differentiating BS from other dermatologic conditions. This paper also elucidates the recently discovered BRAFT and FANCM protein complexes that link BS and Fanconi anemia.

  7. 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.

  8. Compartment syndromes

    Institute of Scientific and Technical Information of China (English)

    Aly Saber

    2014-01-01

    Body compartments bound by fascia and limited by bony backgrounds are found in the extremities, buttocks, abdomen and thoracic cavity; conditions that cause intracompartmental swelling and hypertension can lead to ischemia and limb loss.Although compartment syndromes are described in all body regions from head to toe, the etiology, diagnosis, treatment, and prevention are best characterized for three key body regions: the first is extremity, the second is abdominal, and the third is thoracic compartment syndromes.Thoracic compartment syndrome usually occurs as a result of pathological accumulation of air, fluid or blood in the mediastinum and has traditionally been described in trauma.As the intracranial contents are confined within a rigid bony cage, any increase in volume within thiscompartment as a result of brain oedema or an expanding traumatic intracranial haematoma, leads to a reciprocal decrease in the volume of cerebrospinal fluid and intracranial venous blood volume.Limb compartment syndromes may present either in acute or chronic clinical forms.Intra-abdominal pressure can be measured by direct or indirect methods.While the direct methods are quite accurate, theyare impractical and not feasible for routine practice.Indirect measurement is done through inferior vena cava, gastric, rectal and urinary bladder.Indirect measurement through urinary bladder is the simplest and is considered the method of choice for intra-abdominal pressure measurement.The management of patients with intra-abdominal hypertension is based on four important principles: the first is related to the specific procedures aiming at lowering intra-abdominal pressure and the consequences of intra-abdominal hypertension and abdominal compartment syndrome; the second is for general support and medical management of the critically ill patient; while the third is surgical decompression and the fourth is optimization after surgical decompression.

  9. Gorlin-Goltz Syndrome: A Rare Case Report of a 11-Year-Old Child.

    Science.gov (United States)

    Tandon, Sandeep; Chauhan, Yashwant; Sharma, Meenakshi; Jain, Manish

    2016-01-01

    Gorlin-Goltz Syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an autosomal dominant trait caused due to mutations in the patched tumor suppressor gene (PTCH) gene found on the long arm of chromosome 9. The syndrome is characterized by the presence of odontogenic keratocysts (OKCs), basal cell carcinomas, and skeletal malformations. Early diagnosis of the syndrome can be done by pedodontist as OKC is one of the early manifestations of the syndrome. Early diagnosis and treatment is important for long-term prognosis of the syndrome by reducing the severity of cutaneous carcinomas and deformities due to jaw cyst. The present case describes an 11-year-old patient with some typical features of NBCCS, which were diagnosed through its oral and maxillofacial manifestations. This case emphasizes the importance of pedodontist in early recognition of the syndrome.

  10. Short Bowel Syndrome

    Science.gov (United States)

    ... System & How it Works Digestive Diseases A-Z Short Bowel Syndrome What is Short Bowel Syndrome Short bowel syndrome is a group of problems ... between the stomach and large intestine. What causes Short Bowel Syndrome? The main cause of short bowel syndrome is ...

  11. 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

  12. 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.

  13. 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.

  14. 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.

  15. Consumer preferences for apple quality traits

    OpenAIRE

    2013-01-01

    This study investigates the marginal values consumers place on apple quality traits as part of a larger SCRI project whose goal is to increase the long-term economic sustainability of Rosacea crops by increasing the U.S. per-capita consumption of fruits. Information on consumers’ preferences and the value they place on fruit quality is important and may help breeders better establish trait priorities and make the breeding process more efficient. We conducted sensory tasting tests and experime...

  16. Fear inhibition in high trait anxiety.

    Science.gov (United States)

    Kindt, Merel; Soeter, Marieke

    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. Sixty undergraduate students participated in the study--High Trait Anxious: n = 28 and Low Trait Anxious: n = 32. We replicated earlier findings that a transfer of conditioned inhibition for startle responses requires contingency awareness. However, contrary to the fear inhibition hypothesis, our data suggest that high trait anxious individuals show a normal fear inhibition of conditioned startle responding. Only at the cognitive level the high trait anxious individuals showed evidence for impaired inhibitory learning of the threat cue. Together with other findings where impaired fear inhibition was only observed in those PTSD patients who were either high on hyperarousal symptoms or with current anxiety symptoms, we question whether impaired fear inhibition is a biomarker for the development of anxiety disorders.

  17. 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.

  18. 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…

  19. 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.

  20. Otodental syndrome

    Directory of Open Access Journals (Sweden)

    Bloch-Zupan Agnès

    2006-03-01

    Full Text Available Abstract The otodental syndrome also named otodental dysplasia, is characterised by a striking dental phenotype known as globodontia, associated with sensorineural high frequency hearing loss and eye coloboma. Globodontia occurs in both primary and permanent dentition, affecting canine and molar teeth (i.e. enlarged bulbous malformed posterior teeth with almost no discernable cusps or grooves. The condition appears to be inherited in an autosomal dominant mode, although sporadic cases have been reported. It is a rare disease, a few families have been described in the literature. In the British family, the locus for oculo-oto-dental syndrome was mapped to 20q13.1 within a 12-cM critical chromosomal region. Dental management is complex, interdisciplinary and will include regular follow up, scheduled teeth extraction and orthodontic treatment. Hearing checks and, if necessary, hearing aids are mandatory, as well as eye examination and ad hoc treatment if necessary.

  1. Dravet syndrome

    Directory of Open Access Journals (Sweden)

    Incorpora Gemma

    2009-09-01

    Full Text Available Abstract "Dravet syndrome" (DS previously named severe myoclonic epilepsy of infancy (SMEI, or epilepsy with polymorphic seizures, is a rare disorder characterized by an early, severe, generalized, epileptic encephalopathy. DS is characterized by febrile and afebrile seizures beginning in the 1st year of life followed by different types of seizures (either focal or generalized, which are typically resistant to antiepileptic drugs. A developmental delay from the 2nd to 3rd year of life becomes evident, together with motor disturbances and personality disorders. Beside the classic syndrome, there are milder cases which have been called severe myoclonic epilepsy borderline (SMEB. DS is caused by a mutation in the neuronal sodium channel gene, SCN1A , that is also mutated in generalized epilepsy with FS+ (GEFS+.

  2. Parinaud's syndrome.

    Science.gov (United States)

    Moffie, D; Ongerboer de Visser, B W; Stefanko, S Z

    1983-02-01

    Five cases of a tumour in the quadrigeminal area have been described, 4 of which could be verified by autopsy. In 2 cases with a metastasis in the tegmentum of the mesencephalon, a Parinaud syndrome was present. In 2 other cases, however, with extensive destruction of the quadrigeminal plate and of the posterior commissure this syndrome was not present. In the 5th case, with a big vascular tumour of the pineal area, disturbances of eye movements and pupils were also lacking. From these observations we may conclude that (1) destruction of the quadrigeminal plate has no influence upon vertical eye movements. (2) destruction of the posterior commissure, in combination with the quadrigeminal plate, is not always followed by disturbances of vertical eye movements. In man it is still not clear which structures are responsible for the performance of vertical eye movements.

  3. 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.

  4. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine M; Bodtger, Uffe

    2016-01-01

    This is a systematic review of cases with Lemierre's syndrome (LS) in the past 5 years. LS is characterized by sepsis often evolving after a sore throat or tonsillitis and then complicated by various septic emboli and thrombosis of the internal jugular vein. Symptoms include sepsis, pain, and...... necrophorum. We found a total of 137 cases of LS, of which 47 were infected with F. necrophorum and others with Staphylococcus and Streptococcus. Complications of this rare but severe disease included osteomyelitis, meningitis, and acute respiratory distress syndrome. Mortality was extremely high in the pre......-antibiotic era but has diminished with the advent of antibiotics. This review showed a mortality rate of only 2% of which none of the cases involved fusobacteria. Duration of treatment varied; a 4-6-week course of carbapenem or piperacillin/tazobactam in combination with metronidazole was optimum. Other...

  5. Using IRT Trait Estimates versus Summated Scores in Predicting Outcomes

    Science.gov (United States)

    Xu, Ting; Stone, Clement A.

    2012-01-01

    It has been argued that item response theory trait estimates should be used in analyses rather than number right (NR) or summated scale (SS) scores. Thissen and Orlando postulated that IRT scaling tends to produce trait estimates that are linearly related to the underlying trait being measured. Therefore, IRT trait estimates can be more useful…

  6. 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.

  7. 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.

  8. Postconcussional Syndrome

    OpenAIRE

    Necla Keskin; Lut Tamam

    2013-01-01

    Postconcussional syndrome is characterized by somatic, cognitive and psychiatric (emotional, behavioral) symptoms that occurs after mild traumatic brain injury. It has been known that these symptoms recover fully within 3-6 months almost in 90% of patients. Although its etiology is still controversial, biological, psychological and social factors may account for the development and continuation of the symptoms. Diagnosis is based on the subjective complaints. To find out an objective method f...

  9. Fraser syndrome.

    Directory of Open Access Journals (Sweden)

    Chattopadhyay A

    1993-10-01

    Full Text Available Fraser Syndrome is a rare disorder with only a few cases having been described in Indian literature. We report here a case of a patient aged 16 yr present with primary amenorrhea which is a very unusual mode of presentation. Multiple associated anomalies were present including those of eyelids, eyebrow, face, fingers and genitalia. Chromosome analysis revealed a normal female karyotype. Pituitary gonadotropins were within normal range.

  10. [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.

  11. Gerstmann's syndrome.

    OpenAIRE

    Sukumar, S.; Ferguson, G C

    1996-01-01

    Although Gerstmann's syndrome has been well documented since it was characterised in the latter half of last century, there has not been much literature on it in the last few years. We present a classical case in a patient who was admitted into hospital for an unrelated problem. We conclude that clinical examination still has a valuable role in neurology, despite the availability of excellent imaging techniques.

  12. Neonatal respiratory distress syndrome

    Science.gov (United States)

    Hyaline membrane disease (HMD); Infant respiratory distress syndrome; Respiratory distress syndrome in infants; RDS - infants ... improves slowly after that. Some infants with severe respiratory distress syndrome will die. This most often occurs between days ...

  13. What Causes Down Syndrome?

    Science.gov (United States)

    ... Information Clinical Trials Resources and Publications What causes Down syndrome? Skip sharing on social media links Share this: ... Down Syndrome Registry​ . Chromosomal Changes That Can Cause Down Syndrome Research shows that three types of chromosomal changes ...

  14. Genetic obesity syndromes.

    Science.gov (United States)

    Goldstone, Anthony P; Beales, Philip L

    2008-01-01

    There are numerous reports of multi-system genetic disorders with obesity. Many have a characteristic presentation and several, an overlapping phenotype indicating the likelihood of a shared common underlying mechanism or pathway. By understanding the genetic causes and functional perturbations of such syndromes we stand to gain tremendous insight into obesogenic pathways. In this review we focus particularly on Bardet-Biedl syndrome, whose molecular genetics and cell biology has been elucidated recently, and Prader-Willi syndrome, the commonest obesity syndrome due to loss of imprinted genes on 15q11-13. We also discuss highlights of other genetic obesity syndromes including Alstrom syndrome, Cohen syndrome, Albright's hereditary osteodystrophy (pseudohypoparathyroidism), Carpenter syndrome, MOMO syndrome, Rubinstein-Taybi syndrome, cases with deletions of 6q16, 1p36, 2q37 and 9q34, maternal uniparental disomy of chromosome 14, fragile X syndrome and Börjeson-Forssman-Lehman syndrome.

  15. Blind Loop Syndrome

    Science.gov (United States)

    ... more commonly result from other conditions such as short bowel syndrome or chronic pancreatitis. Small intestine aspirate and fluid ... people with severe blind loop syndrome resulting in short bowel syndrome. References Townsend CM Jr, et al. Sabiston Textbook ...

  16. Asperger Syndrome (For Parents)

    Science.gov (United States)

    ... Old Feeding Your 1- to 2-Year-Old Asperger Syndrome KidsHealth > For Parents > Asperger Syndrome Print A A ... the medical community still use the term. About Asperger Syndrome The disorder is named after Hans Asperger, a ...

  17. 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.

  18. Kartagener syndrome

    Directory of Open Access Journals (Sweden)

    Nedaa Skeik

    2011-01-01

    Full Text Available Nedaa Skeik1–3, Fadi I Jabr41Mayo Clinic, Rochester, MN, USA; 2Dartmouth Medical School, Hannover, NH, USA; 3New York Medical College, New York, NY, USA; 4Horizon Medical Center, Hospital Medicine, Dickson, TN, USAAbstract: Kartagener syndrome is a rare, ciliopathic, autosomal recessive genetic disorder that causes a defect in the action of the cilia lining the respiratory tract and fallopian tube. Patients usually present with chronic recurrent rhinosinusitis, otitis media, pneumonia, and bronchiectasis caused by pseudomonal infection. Situs inversus can be seen in about 50% of cases. Diagnosis can be made by tests to prove impaired cilia function, biopsy, and genetic studies. Treatment is supportive. In severe cases, the prognosis can be fatal if bilateral lung transplantation is delayed. We present a case of a 66-year-old woman with chronic recurrent upper respiratory infections, pseudomonal pneumonia, and chronic bronchiectasis who presented with acute respiratory failure. She was diagnosed with Kartagener syndrome based on her clinical presentation and genetic studies. She expired on ventilator with refractory respiratory and multiorgan failure.Keywords: chronic obstructive pulmonary disease, bronchiectasis, immotile cilia syndrome, situs inversus

  19. Crush syndrome

    Directory of Open Access Journals (Sweden)

    Emily Lovallo

    2012-09-01

    Full Text Available The first detailed cases of crush syndrome were described in 1941 in London after victims trapped beneath bombed buildings presented with swollen limbs, hypovolemic shock, dark urine, renal failure, and ultimately perished. The majority of the data and studies on this topic still draw from large databases of earthquake victims. However, in Africa, a continent with little seismic activity, the majority of crush syndrome cases are instead victims of severe beatings rather than earthquake casualties, and clinical suspicion by emergency personnel must be high in this patient group presenting with oliguria or pigmenturia. Damaged skeletal muscle fibres and cell membranes lead to an inflammatory cascade resulting in fluid sequestration in the injured extremity, hypotension, hyperkalemia and hypocalcemia and their complications, and renal injury from multiple sources. Elevations in the serum creatinine, creatine kinase (CK, and potassium levels are frequent findings in these patients, and can help guide critical steps in management. Fluid resuscitation should begin prior to extrication of trapped victims or as early as possible, as this basic intervention has been shown to in large part prevent progression of renal injury to requiring haemodialysis. Alkalinization of the urine and use of mannitol for forced diuresis are recommended therapies under specific circumstances and are supported by studies done in animal models, but have not been shown to change clinical outcomes in human crush victims. In the past 70 years the crush syndrome and its management have been studied more thoroughly, however clinical practice guidelines continue to evolve.

  20. Pollination syndromes in a specialised plant-pollinator interaction: does floral morphology predict pollinators in Calceolaria?

    Science.gov (United States)

    Murúa, M; Espíndola, A

    2015-03-01

    Pollination syndromes are defined as suites of floral traits evolved in response to selection imposed by a particular group of pollinators (e.g., butterflies, hummingbirds, bats). Although numerous studies demonstrated their occurrence in plants pollinated by radically different pollinators, it is less known whether it is possible to identify them within species pollinated by one functional pollinator group. In such a framework, we expect floral traits to evolve also in response to pollinator subgroups (e.g., species, genera) within that unique functional group. On this, specialised pollination systems represent appropriate case studies to test such expectations. Calceolaria is a highly diversified plant genus pollinated by oil-collecting bees in genera Centris and Chalepogenus. Variation in floral traits in Calceolaria has recently been suggested to reflect adaptations to pollinator types. However, to date no study has explicitly tested that observation. In this paper, we quantitatively test that hypothesis by evaluating the presence of pollination syndromes within the specialised pollination system formed by several Calceolaria and their insect pollinators. To do so, we use multivariate approaches and explore the structural matching between the morphology of 10 Calceolaria taxa and that of their principal pollinators. Our results identify morphological matching between floral traits related to access to the reward and insect traits involved in oil collection, confirming the presence of pollinator syndromes in Calceolaria. From a general perspective, our findings indicate that the pollination syndrome concept can be also extended to the intra-pollinator group level.

  1. Trait stacking via targeted genome editing.

    Science.gov (United States)

    Ainley, William M; Sastry-Dent, Lakshmi; Welter, Mary E; Murray, Michael G; Zeitler, Bryan; Amora, Rainier; Corbin, David R; Miles, Rebecca R; Arnold, Nicole L; Strange, Tonya L; Simpson, Matthew A; Cao, Zehui; Carroll, Carley; Pawelczak, Katherine S; Blue, Ryan; West, Kim; Rowland, Lynn M; Perkins, Douglas; Samuel, Pon; Dewes, Cristie M; Shen, Liu; Sriram, Shreedharan; Evans, Steven L; Rebar, Edward J; Zhang, Lei; Gregory, Phillip D; Urnov, Fyodor D; Webb, Steven R; Petolino, Joseph F

    2013-12-01

    Modern agriculture demands crops carrying multiple traits. The current paradigm of randomly integrating and sorting independently segregating transgenes creates severe downstream breeding challenges. A versatile, generally applicable solution is hereby provided: the combination of high-efficiency targeted genome editing driven by engineered zinc finger nucleases (ZFNs) with modular 'trait landing pads' (TLPs) that allow 'mix-and-match', on-demand transgene integration and trait stacking in crop plants. We illustrate the utility of nuclease-driven TLP technology by applying it to the stacking of herbicide resistance traits. We first integrated into the maize genome an herbicide resistance gene, pat, flanked with a TLP (ZFN target sites and sequences homologous to incoming DNA) using WHISKERS™-mediated transformation of embryogenic suspension cultures. We established a method for targeted transgene integration based on microparticle bombardment of immature embryos and used it to deliver a second trait precisely into the TLP via cotransformation with a donor DNA containing a second herbicide resistance gene, aad1, flanked by sequences homologous to the integrated TLP along with a corresponding ZFN expression construct. Remarkably, up to 5% of the embryo-derived transgenic events integrated the aad1 transgene precisely at the TLP, that is, directly adjacent to the pat transgene. Importantly and consistent with the juxtaposition achieved via nuclease-driven TLP technology, both herbicide resistance traits cosegregated in subsequent generations, thereby demonstrating linkage of the two independently transformed transgenes. Because ZFN-mediated targeted transgene integration is becoming applicable across an increasing number of crop species, this work exemplifies a simple, facile and rapid approach to trait stacking.

  2. 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. 

  3. Carpal Tunnel Syndrome

    Science.gov (United States)

    ... Pharyngitis, Adenitis Syndrome (Juvenile) Polymyalgia Rheumatica Psoriatic Arthritis Raynaud's Phenomenon Reactive Arthritis Rheumatoid Arthritis Scleroderma Sjogren's Syndrome Spinal Stenosis Spondyloarthritis Systemic Lupus Erythematosus (Juvenile) Takayasu's ...

  4. 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.

  5. Trait valence and the better-than-average effect.

    Science.gov (United States)

    Gold, Ron S; Brown, Mark G

    2011-12-01

    People tend to regard themselves as having superior personality traits compared to their average peer. To test whether this "better-than-average effect" varies with trait valence, participants (N = 154 students) rated both themselves and the average student on traits constituting either positive or negative poles of five trait dimensions. In each case, the better-than-average effect was found, but trait valence had no effect. Results were discussed in terms of Kahneman and Tversky's prospect theory.

  6. 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...

  7. 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...

  8. Whole genome scan to detect quantitative trait loci for conformation and functional traits in dairy cattle

    NARCIS (Netherlands)

    Schrooten, C.; Bovenhuis, H.; Coppieters, W.; Arendonk, van J.A.M.

    2000-01-01

    A granddaughter design was used to locate quantitative trait loci determining conformation and functional traits in dairy cattle. In this granddaughter design, consisting of 20 Holstein Friesian grandsires and 833 sons, genotypes were determined for 277 microsatellite markers covering the whole geno

  9. 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

    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 mic...

  10. 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.

  11. Multiple quantitative trait analysis using bayesian networks.

    Science.gov (United States)

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

    2014-09-01

    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 from a Multiparent Advanced Generation Inter-Cross (MAGIC) winter wheat population to explore Bayesian networks as a convenient and interpretable framework for the simultaneous modeling of multiple quantitative traits. We show that they are equivalent to multivariate genetic best linear unbiased prediction (GBLUP) and that they are competitive with single-trait elastic net and single-trait GBLUP in predictive performance. Finally, we discuss their relationship with other additive-effects models and their advantages in inference and interpretation. MAGIC populations provide an ideal setting for this kind of investigation because the very low population structure and large sample size result in predictive models with good power and limited confounding due to relatedness.

  12. 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.

  13. 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.

  14. Spatial mosaic evolution of snail defensive traits

    Directory of Open Access Journals (Sweden)

    de León Francisco

    2007-03-01

    Full Text Available Abstract Background Recent models suggest that escalating reciprocal selection among antagonistically interacting species is predicted to occur in areas of higher resource productivity. In a putatively coevolved interaction between a freshwater snail (Mexipyrgus churinceanus and a molluscivorous cichlid (Herichthys minckleyi, we examined three components of this interaction: 1 spatial variation in two putative defensive traits, crushing resistance and shell pigmentation; 2 whether abiotic variables or frequency of molariform cichlids are associated with spatial patterns of crushing resistance and shell pigmentation and 3 whether variation in primary productivity accounted for small-scale variation in these defensive traits. Results Using spatial autocorrelation to account for genetic and geographic divergence among populations, we found no autocorrelation among populations at small geographic and genetic distances for the two defensive traits. There was also no correlation between abiotic variables (temperature and conductivity and snail defensive traits. However, crushing resistance and frequency of pigmented shells were negatively correlated with molariform frequency. Crushing resistance and levels of pigmentation were significantly higher in habitats dominated by aquatic macrophytes, and both traits are phenotypically correlated. Conclusion Crushing resistance and pigmentation of M. churinceanus exhibit striking variation at small spatial scales often associated with differences in primary productivity, substrate coloration and the frequency of molariform cichlids. These local geographic differences may result from among-habitat variation in how resource productivity interacts to promote escalation in prey defenses.

  15. Raynaud's syndrome and carpal tunnel syndrome.

    OpenAIRE

    Waller, D G; Dathan, J R

    1985-01-01

    We report three cases of Raynaud's syndrome with digital ischaemic ulceration, in association with carpal tunnel syndrome. In all cases, the aetiology of the Raynaud's syndrome was probably unrelated to the nerve compression. However, symptoms were worse on the side of the median nerve lesion in two patients and worse on the side with the most severe nerve dysfunction in the third; symptoms were relieved by carpal tunnel decompression in two patients. We suggest that carpal tunnel syndrome ma...

  16. 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

  17. 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.

  18. 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.

  19. 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.

  20. 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.

  1. Jacobsen syndrome.

    Science.gov (United States)

    Mattina, Teresa; Perrotta, Concetta Simona; Grossfeld, Paul

    2009-03-07

    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 approximately 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 very severe

  2. HELLP syndrome

    Directory of Open Access Journals (Sweden)

    Dilek Acar

    2014-08-01

    Suggested treatment modality consists, stabilization of blood pressure and magnesium sulfate infusion. Then evaluation of fetal status and planning delivery method and time if maternal status remains unstable. If prognosis seems favorable without urgent delivery and fetus can benefit from it, a course of betamethasone can be given to fetuses between 24 and 34 weeks of gestational age. The only and definite treatment of HELLP syndrome is delivering the baby. Suggested benefits of steroid therapy and other experimental treatments are still to be proven effective by large randomized controlled trials. [Archives Medical Review Journal 2014; 23(4.000: 735-760

  3. Chilaiditi syndrome.

    Science.gov (United States)

    Walsh, S D; Cruikshank, J G

    1977-02-01

    The features of the Chilaiditi Syndrome are described, together with the historial background, and a brief review of the literature on the condition is given. The prevalence in our geriatric population was found to be 1% and the 13 cases seen over 22 months are reported briefly. The prevalence increases with age and may be related to the consumption of drugs by the elderly; although in the majority it is asymptomatic, it may, particularly when associated with gastrointestinal symptoms, lead to unnecessary laparotomy. In the geriatric patient, interposition of the bowel should be considered in the differential diagnosis of air under the right hemidiaphragm.

  4. Trichorhinophalangeal syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Tuzovic, S.; Fiebach, B.J.O.; Magnus, L.; Sauerbrei, H.U.

    1982-11-01

    This article reports on 14 cases of a trichorhinophalangeal syndrome in five successive generations. Besides the well-known characteristics of the TRPS the following symptoms observed in this family are new: Teething was considerably delayed, intelligence was reduced, and there were skin manifestations resembling eczema. Besides, struma colli and colitis ulcerosa were also observed. Subsequent observations have to clarify whether these symptoms are a facultative part of the TRPS pattern. The constant appearance of carriers of these characteristics during five generation points to dominant heredity.

  5. Eagle Syndrome

    Directory of Open Access Journals (Sweden)

    Beytholahi JM

    1998-09-01

    Full Text Available Eagle's syndrome is characterized by an elongated styloid process and (or calcification of"nstylohyoid ligament besides clinical symptoms. The symptoms are those related to pain when"nswallowing or rotating the neck, headacke, earache, dizziness, intermittent glossitis, sensation of"nforeign body in pharynx and transient syncope. The case which is presented can be considered a very"nrare form of the disease in which complete calcification of the ligament and it's thickening has"noccured. Also there is little relationship between the severity of calcification and severity of symptoms."nA careful and thorough evaluation of each panoramic radiography is emphasized.

  6. 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.

  7. 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.

  8. 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

  9. 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.

  10. Novel opportunities for next-generation probiotics targeting metabolic syndrome.

    Science.gov (United States)

    Cani, Patrice D; Van Hul, Matthias

    2015-04-01

    Various studies have described the beneficial effects of specific bacteria on the characteristics of metabolic syndrome. Intestinal microbiota might therefore represent a modifiable trait for translational intervention to improve the metabolic profiles of obese and type 2 diabetic patients. However, identifying potential probiotic strains that can effectively colonize the gastrointestinal tract and significantly affect host metabolism has been challenging. This review aims to summarize the notable advances and contributions in the field that may prove useful for identifying next-generation probiotics that target metabolic syndrome and its related disorders.

  11. 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.

  12. Down Syndrome (For Parents)

    Science.gov (United States)

    ... en español El síndrome de Down About Down Syndrome Down syndrome (DS), also called Trisomy 21, is a ... rises to about 1 in 100. continue How Down Syndrome Affects Kids Kids with Down syndrome tend to ...

  13. Sheehan's syndrome.

    Science.gov (United States)

    Kilicli, Fatih; Dokmetas, Hatice Sebila; Acibucu, Fettah

    2013-04-01

    Sheehan's syndrome (SS) is characterized by various degrees of hypopituitarism, and develops as a result of ischemic pituitary necrosis due to severe postpartum hemorrhage. Increased pituitary volume, small sella size, disseminated intravascular coagulation and autoimmunity are the proposed factors in the pathogenesis of SS. Hormonal insufficiencies, ranging from single pituitary hormone insufficiency to total hypopituitarism, are observed in patients. The first most important issue in the diagnosis is being aware of the syndrome. Lack of lactation and failure of menstrual resumption after delivery that complicated with severe hemorrhage are the most important clues in diagnosing SS. The most frequent endocrine disorders are the deficiencies of growth hormone and prolactin. In patients with typical obstetric history, prolactin response to TRH seems to be the most sensitive screening test in diagnosing SS. Other than typical pituitary deficiency, symptoms such as anemia, pancytopenia, osteoporosis, impairment in cognitive functions and impairment in the quality of life are also present in these patients. Treatment of SS is based on the appropriate replacement of deficient hormones. Growth hormone replacement has been found to have positive effects; however, risk to benefit ratio, side effects and cost of the treatment should be taken into account.

  14. 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 (

  15. 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.

  16. Klinefelter syndrome.

    Science.gov (United States)

    Smyth, C M; Bremner, W J

    1998-06-22

    Klinefelter syndrome is the most common sex chromosome disorder. Affected males carry an additional X chromosome, which results in male hypogonadism, androgen deficiency, and impaired spermatogenesis. Some patients may exhibit all of the classic signs of this disorder, including gynecomastia, small testes, sparse body hair, tallness, and infertility, whereas others, because of the wide variability in clinical expression, lack many of these features. Treatment consists of testosterone replacement therapy to correct the androgen deficiency and to provide patients with appropriate virilization. This therapy also has positive effects on mood and self-esteem and has been shown to protect against osteoporosis, although it will not reverse infertility. Although the diagnosis of Klinefelter syndrome is now made definitively using chromosomal karyotyping, revealing in most instances a 47,XXY genotype, the diagnosis also can be made using a careful history and results of a physical examination, with the hallmark being small, firm testes. As it affects 1 in 500 male patients and presents with a variety of clinical features, primary care physicians should be familiar with this condition.

  17. Ecological implications of behavioural syndromes.

    Science.gov (United States)

    Sih, Andrew; Cote, Julien; Evans, Mara; Fogarty, Sean; Pruitt, Jonathan

    2012-03-01

    Interspecific trait variation has long served as a conceptual foundation for our understanding of ecological patterns and dynamics. In particular, ecologists recognise the important role that animal behaviour plays in shaping ecological processes. An emerging area of interest in animal behaviour, the study of behavioural syndromes (animal personalities) considers how limited behavioural plasticity, as well as behavioural correlations affects an individual's fitness in diverse ecological contexts. In this article we explore how insights from the concept and study of behavioural syndromes provide fresh understanding of major issues in population ecology. We identify several general mechanisms for how population ecology phenomena can be influenced by a species or population's average behavioural type, by within-species variation in behavioural type, or by behavioural correlations across time or across ecological contexts. We note, in particular, the importance of behavioural type-dependent dispersal in spatial ecology. We then review recent literature and provide new syntheses for how these general mechanisms produce novel insights on five major issues in population ecology: (1) limits to species' distribution and abundance; (2) species interactions; (3) population dynamics; (4) relative responses to human-induced rapid environmental change; and (5) ecological invasions.

  18. 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.

  19. 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.

  20. 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.

  1. Children with Asperger syndrome: specific aspects of their drawings.

    Science.gov (United States)

    Lesinskiene, Sigita

    2002-01-01

    Free drawings of children with AS, aged 7-16 years, were analysed in relation to the clinical picture comprising their difficulties in communication, social behaviour and cognition. All children showed good abilities in drawing. Pictures had some common traits and were distinctly original, reflecting peculiarities of the syndrome features. Analysis of free drawings was found to be a helpful tool in understanding the inner world and the dynamic changes during the therapy process of these children.

  2. Children with Asperger syndrome: specific aspects of their drawings

    OpenAIRE

    Lesinskiene, Sigita

    2002-01-01

    Free drawings of children with AS, aged 7-16 years, were analysed in relation to the clinical picture comprising their difficulties in communication, social behaviour and cognition. All children showed good abilities in drawing. Pictures had some common traits and were distinctly original, reflecting peculiarities of the syndrome features. Analysis of free drawings was found to be a helpful tool in understanding the inner world and the dynamic changes during the therapy process of these child...

  3. 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

  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.

  5. Autoimmune liver disease in Noonan Syndrome.

    Science.gov (United States)

    Loddo, Italia; Romano, Claudio; Cutrupi, Maria Concetta; Sciveres, Marco; Riva, Silvia; Salpietro, Annamaria; Ferraù, Valeria; Gallizzi, Romina; Briuglia, Silvana

    2015-03-01

    Noonan Syndrome (NS) is characterized 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 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. Autoimmune Hepatitis (AIH) is a cryptogenic, chronic and progressive necroinflammatory liver disease. Common features of AIH are hypergammaglobulinemia (IgG), presence of circulating autoantibodies, histological picture of interface hepatitis and response to immunosuppressant drugs. Conventional treatment with Prednisone and Azathioprine is effective in most patients. We describe the case of a 6 years-old girl with Noonan Syndrome and Autoimmune Hepatitis type 1. Molecular analysis of PTPN11 gene showed heterozygous mutation c.923A>G (Asn308Ser) in exon 8. Though association between NS and autoimmune disorders is known, this is the second case of association between Noonan Syndrome and Autoimmune Hepatitis type 1 described in literature. In the management of NS, an accurate clinical evaluation would be recommended. When there is a clinical suspicion of autoimmune phenomena, appropriate laboratory tests should be performed with the aim of clarifying whether the immune system is involved in NS. We think that autoimmunity represents a characteristic of NS, even if the etiopathogenesis is still unknown.

  6. Rethinking Trait Conceptions of Social Desirability Scales

    DEFF Research Database (Denmark)

    de Vries, Reinout E.; Zettler, Ingo; Hilbig, Benjamin E.

    2014-01-01

    found for both IM (r = .45) and Self-Deceptive Enhancement (SDE; r = .34), supporting a trait conception of IM and SDE. In both self- and other ratings, the most important predictors of SDE were (low) Emotionality, Extraversion, and Conscientiousness. IM was associated with Conscientiousness...

  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. 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…

  9. Trait Characteristics of Diffusion Model Parameters

    Directory of Open Access Journals (Sweden)

    Anna-Lena Schubert

    2016-07-01

    Full Text Available Cognitive modeling of response time distributions has seen a huge rise in popularity in individual differences research. In particular, several studies have shown that individual differences in the drift rate parameter of the diffusion model, which reflects the speed of information uptake, are substantially related to individual differences in intelligence. However, if diffusion model parameters are to reflect trait-like properties of cognitive processes, they have to qualify as trait-like variables themselves, i.e., they have to be stable across time and consistent over different situations. To assess their trait characteristics, we conducted a latent state-trait analysis of diffusion model parameters estimated from three response time tasks that 114 participants completed at two laboratory sessions eight months apart. Drift rate, boundary separation, and non-decision time parameters showed a great temporal stability over a period of eight months. However, the coefficients of consistency and reliability were only low to moderate and highest for drift rate parameters. These results show that the consistent variance of diffusion model parameters across tasks can be regarded as temporally stable ability parameters. Moreover, they illustrate the need for using broader batteries of response time tasks in future studies on the relationship between diffusion model parameters and intelligence.

  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. 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

  12. 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

  13. Phylogenetics Exercise Using Inherited Human Traits

    Science.gov (United States)

    Tuimala, Jarno

    2006-01-01

    A bioinformatics laboratory exercise based on inherited human morphological traits is presented. It teaches how morphological characters can be used to study the evolutionary history of humans using parsimony. The exercise can easily be used in a pen-and-paper laboratory, but if computers are available, a more versatile analysis can be carried…

  14. The Trait Structure of Cloze Test Scores.

    Science.gov (United States)

    Bachman, Lyle F.

    1982-01-01

    Presents study designed to examine trait structure of a cloze test using confirmatory factor analysis. Results suggest that a modified cloze passage, using rational deletions, is capable of measuring syntactic- and discourse-level relationships in a text, and this advantage may outweigh considerations of reduced redundancy which underlie random…

  15. 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.

  16. 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…

  17. Contributions to an animal trait ontology.

    Science.gov (United States)

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

    2012-06-01

    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 high level of standardization within and between various resources, at least with respect to the used terminology. Ontologies represent a set of concepts that facilitate standardization of terminology within specific domains of interest. The biological mechanisms underlying quantitative traits of farm animal species related to reproduction and host pathogen interactions are complex and not well understood. This knowledge could be improved through the availability of domain-specific ontologies that provide enhanced possibilities for data annotation, data retrieval, data integration, data exchange, data analysis, and ontology-based searches. Here we describe a framework for domain-specific ontologies and the development of 2 first-generation ontologies: Reproductive Trait and Phenotype Ontology (REPO) and Host Pathogen Interactions Ontology . In these first-generation ontologies, we focused on "female fertility in cattle" and "interactions between pigs and Salmonella". Through this, we contribute to the global initiative toward the development of an Animal Trait Ontology for livestock species. To demonstrate its usefulness, we show how REPO can be used to select candidate genes for fertility.

  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. 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

  20. 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

  1. Trait Affect and Job Search Outcomes

    Science.gov (United States)

    Cote, Stephane; Saks, Alan M.; Zikic, Jelena

    2006-01-01

    The present study examines the role of trait affect in job search. One hundred and twenty-three university students completed measures of positive and negative affectivity, conscientiousness, job search self-efficacy, job search clarity, and job search intensity during their last year of school while on the job market. At the end of the school…

  2. Latent Trait Estimation: Theory vs. Practice.

    Science.gov (United States)

    Kolakowski, Donald

    Empirical results are presented as regards the implementation of a latent-trait psychometric model by means of conditional maximum likelihood estimation. Items are scored polychotomously into varying numbers of nominal categories and the test and item characteristic curves and information functions are examined. It is concluded that scoring items…

  3. 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.

  4. State and Trait Emotions in Delinquent Adolescents

    Science.gov (United States)

    Plattner, Belinda; Karnik, Niranjan; Jo, Booil; Hall, Rebecca E.; Schallauer, Astrid; Carrion, Victor; Feucht, Martha; Steiner, Hans

    2007-01-01

    Objective: To examine the structure of emotions and affective dysregulation in juvenile delinquents. Method: Fifty-six juvenile delinquents from a local juvenile hall and 169 subjects from a local high school were recruited for this study. All participants completed psychometric testing for trait emotions followed by measurements of state emotions…

  5. Statistical methods for analysing complex genetic traits

    NARCIS (Netherlands)

    El Galta, Rachid

    2006-01-01

    Complex traits are caused by multiple genetic and environmental factors, and are therefore difficult to study compared with simple Mendelian diseases. The modes of inheritance of Mendelian diseases are often known. Methods to dissect such diseases are well described in literature. For complex geneti

  6. Stereotype Traits can be Processed Automatically.

    Science.gov (United States)

    1984-12-01

    functional, providing the individual with a psychological justification for prejudice ( Adorno , Frenkel-Brunswik, Levinson, & Sanford, 1950; Katz, 1960...stereotypes outlined by Deaux and iLewmis (1983). 1% Stereotype traits page 26 References - Adorno , T. V., Frenkel-Brunawik, E., Levinson, D. J., & Sanford, R

  7. 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.

  8. 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...

  9. 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

  10. 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.

  11. 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

  12. Hypereosinophilic syndromes

    Directory of Open Access Journals (Sweden)

    Giuseppe Civardi

    2013-04-01

    Full Text Available Background: The last few years have seen a complete change in the etiopathogenetic features, classification and therapeutic approach of the hypereosinophilic syndrome (HES, a multiorgan targeted blood disease. The discovery of a genetic mutation and the occurrence of a new fusion gene, named FIP1L1-PDGFRA (FIP gene, in some patients allowed the identification of a new myeloproliferative disorder, M-HES: thereafter, the pivotal therapeutic role of the tyrosine kinase inhibitors, particularly, imatinib mesylate, was clearly detected. In the same period a new pathogenetic mechanism has been detected: some authors described the presence of a CD3-CD4 +Tcell clone correlating with the overproduction of IL5, a potent eosinophilic cell line stimulating cytokine. As a consequence an international consensus committee proposed a new classification for these syndromes, in accordance with these new pathogenetic features. The disease is characterized by an extensive tissue and organ damage due to an eosinophilic cell infiltration and leading to the release of toxic cytokines and subsequent organ dysfunction. The heart, lungs, gastrointestinal apparatus, skin and central nervous system are affected. Moreover the released cytokines can induce a thrombophilic status and thromboembolic events can occur throughout the body. Aim of the study: We describe the diagnostic procedures that are necessary in order to obtain a correct diagnosis and classification of the disease and to evaluate the presence of an organ and tissue damage. In particular, bone marrow biopsy and cytogenetic examination of blood and marrow are necessary for detecting M-HES cases that are positive for the FIP gene. In these patients, imatinib mesylate has a leading role for obtaining complete remission of the disease in a high percentage of cases. We also examine the therapeutic options for the other forms of the disease: prednisone, interferon, hydroxiurea are effective therapeutic tools in

  13. Personality traits and ego-network dynamics.

    Science.gov (United States)

    Centellegher, Simone; López, Eduardo; Saramäki, Jari; Lepri, Bruno

    2017-01-01

    Strong and supportive social relationships are fundamental to our well-being. However, there are costs to their maintenance, resulting in a trade-off between quality and quantity, a typical strategy being to put a lot of effort on a few high-intensity relationships while maintaining larger numbers of less close relationships. It has also been shown that there are persistent individual differences in this pattern; some individuals allocate their efforts more uniformly across their networks, while others strongly focus on their closest relationships. Furthermore, some individuals maintain more stable networks than others. Here, we focus on how personality traits of individuals affect this picture, using mobile phone calls records and survey data from the Mobile Territorial Lab (MTL) study. In particular, we look at the relationship between personality traits and the (i) persistence of social signatures, namely the similarity of the social signature shape of an individual measured in different time intervals; (ii) the turnover in egocentric networks, that is, differences in the set of alters present at two consecutive temporal intervals; and (iii) the rank dynamics defined as the variation of alter rankings in egocentric networks in consecutive intervals. We observe that some traits have effects on the stability of the social signatures as well as network turnover and rank dynamics. As an example, individuals who score highly in the Openness to Experience trait tend to have higher levels of network turnover and larger alter rank variations. On broader terms, our study shows that personality traits clearly affect the ways in which individuals maintain their personal networks.

  14. Political attitudes develop independently of personality traits.

    Directory of Open Access Journals (Sweden)

    Peter K Hatemi

    Full Text Available The primary assumption within the recent personality and political orientations literature is that personality traits cause people to develop political attitudes. In contrast, research relying on traditional psychological and developmental theories suggests the relationship between most personality dimensions and political orientations are either not significant or weak. Research from behavioral genetics suggests the covariance between personality and political preferences is not causal, but due to a common, latent genetic factor that mutually influences both. The contradictory assumptions and findings from these research streams have yet to be resolved. This is in part due to the reliance on cross-sectional data and the lack of longitudinal genetically informative data. Here, using two independent longitudinal genetically informative samples, we examine the joint development of personality traits and attitude dimensions to explore the underlying causal mechanisms that drive the relationship between these features and provide a first step in resolving the causal question. We find change in personality over a ten-year period does not predict change in political attitudes, which does not support a causal relationship between personality traits and political attitudes as is frequently assumed. Rather, political attitudes are often more stable than the key personality traits assumed to be predicting them. Finally, the results from our genetic models find that no additional variance is accounted for by the causal pathway from personality traits to political attitudes. Our findings remain consistent with the original construction of the five-factor model of personality and developmental theories on attitude formation, but challenge recent work in this area.

  15. Personality traits and ego-network dynamics

    Science.gov (United States)

    Centellegher, Simone; López, Eduardo; Saramäki, Jari; Lepri, Bruno

    2017-01-01

    Strong and supportive social relationships are fundamental to our well-being. However, there are costs to their maintenance, resulting in a trade-off between quality and quantity, a typical strategy being to put a lot of effort on a few high-intensity relationships while maintaining larger numbers of less close relationships. It has also been shown that there are persistent individual differences in this pattern; some individuals allocate their efforts more uniformly across their networks, while others strongly focus on their closest relationships. Furthermore, some individuals maintain more stable networks than others. Here, we focus on how personality traits of individuals affect this picture, using mobile phone calls records and survey data from the Mobile Territorial Lab (MTL) study. In particular, we look at the relationship between personality traits and the (i) persistence of social signatures, namely the similarity of the social signature shape of an individual measured in different time intervals; (ii) the turnover in egocentric networks, that is, differences in the set of alters present at two consecutive temporal intervals; and (iii) the rank dynamics defined as the variation of alter rankings in egocentric networks in consecutive intervals. We observe that some traits have effects on the stability of the social signatures as well as network turnover and rank dynamics. As an example, individuals who score highly in the Openness to Experience trait tend to have higher levels of network turnover and larger alter rank variations. On broader terms, our study shows that personality traits clearly affect the ways in which individuals maintain their personal networks. PMID:28253333

  16. Political attitudes develop independently of personality traits.

    Science.gov (United States)

    Hatemi, Peter K; Verhulst, Brad

    2015-01-01

    The primary assumption within the recent personality and political orientations literature is that personality traits cause people to develop political attitudes. In contrast, research relying on traditional psychological and developmental theories suggests the relationship between most personality dimensions and political orientations are either not significant or weak. Research from behavioral genetics suggests the covariance between personality and political preferences is not causal, but due to a common, latent genetic factor that mutually influences both. The contradictory assumptions and findings from these research streams have yet to be resolved. This is in part due to the reliance on cross-sectional data and the lack of longitudinal genetically informative data. Here, using two independent longitudinal genetically informative samples, we examine the joint development of personality traits and attitude dimensions to explore the underlying causal mechanisms that drive the relationship between these features and provide a first step in resolving the causal question. We find change in personality over a ten-year period does not predict change in political attitudes, which does not support a causal relationship between personality traits and political attitudes as is frequently assumed. Rather, political attitudes are often more stable than the key personality traits assumed to be predicting them. Finally, the results from our genetic models find that no additional variance is accounted for by the causal pathway from personality traits to political attitudes. Our findings remain consistent with the original construction of the five-factor model of personality and developmental theories on attitude formation, but challenge recent work in this area.

  17. Overlapping chromosomal regions for fertility traits and production traits in the Danish Holstein population

    DEFF Research Database (Denmark)

    Höglund, Johanna Karolina; Buitenhuis, A J; Guldbrandtsen, B;

    2009-01-01

    , it is of interest to validate which of the subtraits are affected by the QTL. Phenotypic and marker data were collected from 34 grandsire families from the Danish Holstein population. First, the trait data for "fertility treatments" were separated into their underlying subtraits: uterine infections, antibiotics...... placed in the placenta, and abortions. In addition, retained placenta was selected for analysis because it is related to uterine infections. A genome scan was performed using 416 microsatellite markers for the fertility treatment subtraits and retained placenta, and an additional genome scan for milk...... production traits conditional on the QTL regions for the subtraits and retained placenta was conducted. Second, we selected 24 genomic regions harboring QTL for fertility traits from a previous study. A QTL scan for milk production traits conditional on the selected regions was conducted. We found that 16...

  18. Sickle Cell Trait in Blacks Can Skew Diabetes Test Results

    Science.gov (United States)

    ... page: https://medlineplus.gov/news/fullstory_163463.html Sickle Cell Trait in Blacks Can Skew Diabetes Test Results ... less accurate in black people who have the sickle cell anemia trait, a new study says. The test ...

  19. Genetic architecture of domestication-related traits in maize

    Science.gov (United States)

    Strong directional selection occurred during the domestication of maize from its wild ancestor teosinte, reducing its genetic diversity, particularly at genes controlling domestication-related traits. Nevertheless, variability for some domestication-related traits is maintained in maize. The genet...

  20. Deep roots delay flowering and relax the impact of floral traits and associated pollinators in steppe plants.

    Science.gov (United States)

    Berrached, Rachda; Kadik, Leila; Ait Mouheb, Hocine; Prinzing, Andreas

    2017-01-01

    Strong seasonality in abiotic harshness and pollinator availability shape the reproductive success of plants. Plant species can avoid or can tolerate harsh abiotic conditions and can attract different pollinators, but it remains unknown (i) which of these capacities is most important for flowering phenology, (ii) whether tolerance/avoidance of abiotic harshness reinforces or relaxes the phenological differentiation of species attracting different pollinators. We assembled possibly the first functional trait database for a North African steppe covering 104 species. We inferred avoidance of harshness (drought) from dormancy, i.e. annual life-span and seed size. We inferred tolerance or resistance to harshness from small specific leaf area, small stature, deep roots and high dry matter content. We inferred the type of pollinators attracted from floral colour, shape and depth. We found that avoidance traits did not affect flowering phenology, and among tolerance traits only deep roots had an effect by delaying flowering. Flower colour (red or purple), and occasionally flower depth, delayed flowering. Dish, gullet and flag shape accelerated flowering. Interactive effects however were at least as important, inversing the mentioned relationship between floral characters and flowering phenology. Specifically, among drought-tolerant deep-rooted species, flowering phenologies converged among floral types attracting different pollinators, without becoming less variable overall. Direct and interactive effects of root depth and floral traits explained at least 45% of the variance in flowering phenology. Also, conclusions on interactive effects were highly consistent with and without including information on family identity or outliers. Overall, roots and floral syndromes strongly control flowering phenology, while many other traits do not. Surprisingly, floral syndromes and the related pollinators appear to constrain phenology mainly in shallow-rooted, abiotically little

  1. Mapping quantitative trait loci for binary trait in the F2:3 design

    Indian Academy of Sciences (India)

    Chengsong Zhu; Yuan-Ming Zhang; Zhigang Guo

    2008-12-01

    In the analysis of inheritance of quantitative traits with low heritability, an F2:3 design that genotypes plants in F2 and phenotypes plants in F2:3 progeny is often used in plant genetics. Although statistical approaches for mapping quantitative trait loci (QTL) in the F2:3 design have been well developed, those for binary traits of biological interest and economic importance are seldom addressed. In this study, an attempt was made to map binary trait loci (BTL) in the F2:3 design. The fundamental idea was: the F2 plants were genotyped, all phenotypic values of each F2:3 progeny were measured for binary trait, and these binary trait values and the marker genotype informations were used to detect BTL under the penetrance and liability models. The proposed method was verified by a series of Monte–Carlo simulation experiments. These results showed that maximum likelihood approaches under the penetrance and liability models provide accurate estimates for the effects and the locations of BTL with high statistical power, even under of low heritability. Moreover, the penetrance model is as efficient as the liability model, and the F2:3 design is more efficient than classical F2 design, even though only a single progeny is collected from each F2:3 family. With the maximum likelihood approaches under the penetrance and the liability models developed in this study, we can map binary traits as we can do for quantitative trait in the F2:3 design.

  2. Identification of Quantitative Trait Loci Controlling Seed Physical and Nutrient Traits in Cotton

    Institute of Scientific and Technical Information of China (English)

    SONG Xian-liang; ZHANG Tian-zhen

    2008-01-01

    @@ Cotton (Gossypium spp.) is the leading fiber crop,and an important source of the important edible oil and protein meals in the world.Complex genetics and strong environmental effects hinder much progress in seed quality trait breeding in cotton.The use of molecular markers will improve our understanding of the genetic factors conferring seed quality traits,and it is expected to assist in selection of superior genotypes.

  3. ADHD and genetic syndromes.

    Science.gov (United States)

    Lo-Castro, Adriana; D'Agati, Elisa; Curatolo, Paolo

    2011-06-01

    A high rate of Attention Deficit/Hyperactivity Disorder (ADHD)-like characteristics has been reported in a wide variety of disorders including syndromes with known genetic causes. In this article, we review the genetic and the neurobiological links between ADHD symptoms and some genetic syndromes such as: Fragile X Syndrome, Neurofibromatosis 1, DiGeorge Syndrome, Tuberous Sclerosis Complex, Turner Syndrome, Williams Syndrome and Klinefelter Syndrome. Although each syndrome may arise from different genetic abnormalities with multiple molecular functions, the effects of these abnormalities may give rise to common effects downstream in the biological pathways or neural circuits, resulting in the presentation of ADHD symptoms. Early diagnosis of ADHD allows for earlier treatment, and has the potential for a better outcome in children with genetic syndromes.

  4. A primary screen of the bovine genome for quantitative trait loci affecting carcass and growth traits.

    Science.gov (United States)

    Stone, R T; Keele, J W; Shackelford, S D; Kappes, S M; Koohmaraie, M

    1999-06-01

    A primary genomic screen for quantitative trait loci (QTL) affecting carcass and growth traits was performed by genotyping 238 microsatellite markers on 185 out of 300 total progeny from a Bos indicus x Bos taurus sire mated to Bos taurus cows. The following traits were analyzed for QTL effects: birth weight (BWT), weaning weight (WW), yearling weight (YW), hot carcass weight (HCW), dressing percentage (DP), fat thickness (FT), marbling score (MAR), longissimus muscle area (LMA), rib bone (RibB), rib fat (RibF), and rib muscle (RibM), and the predicted whole carcass traits, retail product yield (RPYD), fat trim yield (FATYD), bone yield (BOYD), retail product weight (RPWT), fat weight (FATWT), and bone weight (BOWT). Data were analyzed by generating an F-statistic profile computed at 1-cM intervals for each chromosome by the regression of phenotype on the conditional probability of receiving the Brahman allele from the sire. There was compelling evidence for a QTL allele of Brahman origin affecting an increase in RibB and a decrease in DP on chromosome 5 (BTA5). Putative QTL at or just below the threshold for genome-wide significance were as follows: an increase in RPYD and component traits on BTA2 and BTA13, an increase in LMA on BTA14, and an increase in BWT on BTA1. Results provided represent a portion of our efforts to identify and characterize QTL affecting carcass and growth traits.

  5. Quantitative trait loci linked to PRNP gene controlling health and production traits in INRA 401 sheep

    Directory of Open Access Journals (Sweden)

    Brunel Jean-Claude

    2007-07-01

    Full Text Available Abstract In this study, the potential association of PrP genotypes with health and productive traits was investigated. Data were recorded on animals of the INRA 401 breed from the Bourges-La Sapinière INRA experimental farm. The population consisted of 30 rams and 852 ewes, which produced 1310 lambs. The animals were categorized into three PrP genotype classes: ARR homozygous, ARR heterozygous, and animals without any ARR allele. Two analyses differing in the approach considered were carried out. Firstly, the potential association of the PrP genotype with disease (Salmonella resistance and production (wool and carcass traits was studied. The data used included 1042, 1043 and 1013 genotyped animals for the Salmonella resistance, wool and carcass traits, respectively. The different traits were analyzed using an animal model, where the PrP genotype effect was included as a fixed effect. Association analyses do not indicate any evidence of an effect of PrP genotypes on traits studied in this breed. Secondly, a quantitative trait loci (QTL detection approach using the PRNP gene as a marker was applied on ovine chromosome 13. Interval mapping was used. Evidence for one QTL affecting mean fiber diameter was found at 25 cM from the PRNP gene. However, a linkage between PRNP and this QTL does not imply unfavorable linkage disequilibrium for PRNP selection purposes.

  6. Morphological Traits of Two Seed-Feeding Beetle Species and the Relationship to Resource Traits.

    Science.gov (United States)

    Maia, L F; Tuller, J; Faria, L D B

    2017-02-01

    Morphological traits are useful to investigate insect sex-related differences in body size and to reveal differences in resource use. It has been suggested that as the resource increases, so does the body size of organisms interacting with the resource, highlighting the crucial role of resource quality and quantity in determining the morphological traits of organisms interacting with the resource. Here, we describe morphological traits of two species of Bruchinae, Merobruchus terani (Kingsolver 1980) and Stator maculatopygus (Pic 1930), consuming seeds of Senegalia tenuifolia (Fabaceae: Mimosoideae). We evaluated the influence of monthly sample and sampling sites on tibia and femur length and biomass. In addition, we tested two predictions in which body size related to resource amount and body size related to longevity. Males of M. terani were heavier than females, whereas the two sexes of S. maculatopygus did not differ in biomass. Both species had larger body sizes in the late ripe-fruit stage. With respect to sampling sites, biomass of M. terani did not differ, whereas S. maculatopygus did differ in biomass. Merobruchus terani showed a positive relationship with seed traits, whereas S. maculatopygus showed no relationship. At the same time, fruit traits showed a negative effect on morphological traits for both beetle species. The longevity experiment, performed using only M. terani, showed an equal longevity and seed consumption rate for both sexes. Our study indicates that different species, interacting in the same system and performing similar functional behaviors, respond differently to the same resource.

  7. Neural systems for social cognition in Klinefelter syndrome (47.XXY) : evidence from fMRI

    NARCIS (Netherlands)

    van Rijn, S.; Swaab, H; Baas, D; de Haan, E; Kahn, R.S.; Aleman, A.

    2012-01-01

    Klinefelter syndrome (KS) is a chromosomal condition (47, XXY) that may help us to unravel gene-brain behavior pathways to psychopathology. The phenotype includes social cognitive impairments and increased risk for autism traits. We used functional MRI to study neural mechanisms underlying social in

  8. Anthropometry in Klinefelter syndrome - multifactorial influences due to CAG length, testosterone treatment and possibly intrauterine hypogonadism

    DEFF Research Database (Denmark)

    Chang, Simon; Skakkebæk, Anne; Trolle, Christian;

    2015-01-01

    Context: Klinefelter syndrome, 47, XXY (KS), is underdiagnosed partly due to few clinical signs complicating identification of affected individuals. Certain phenotypic traits are common in KS. However, not all aspects of the KS phenotype are well described. Objective: To describe anthropometry...

  9. 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

  10. 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…

  11. First Trimester Down Syndrome Screen

    Science.gov (United States)

    ... disorder such as Down syndrome (trisomy 21) or Edwards syndrome (trisomy 18) . The first trimester screen is one ... chromosome material that results in Down syndrome or Edwards syndrome , the levels of PAPP-A tend to be ...

  12. Prenatal Tests for Down Syndrome

    Science.gov (United States)

    ... PRENATAL TESTS FOR DOWN SYNDROME What Is Down Syndrome? Down syndrome is a common birth defect that includes mental retardation and— often— heart problems. Children with Down syndrome have round faces and almond-shaped eyes that ...

  13. Genetics Home Reference: Werner syndrome

    Science.gov (United States)

    ... for This Condition Adult premature aging syndrome Adult Progeria Werner's Syndrome Werners Syndrome WS Related Information How ... BK, Monnat RJ Jr. Werner and Hutchinson-Gilford progeria syndromes: mechanistic basis of human progeroid diseases. Nat ...

  14. 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.

  15. Pallister-Killian syndrome in a preterm newborn who died soon after precipitous delivery: cytogenetic analysis.

    Science.gov (United States)

    Moro, M A; Sanna, R; Cambosu, F; Soro, G; Dessole, S; Montella, A; Capobianco, G

    2014-01-01

    The authors report a preterm neonate with dysmorphic traits and cleft palate who was born preterm because of precipitous delivery and died soon after birth notwithstanding neonatal intensive care unit (NICU) support. The cytogenetic analysis on fibroblasts from post-mortem skin biopsy demonstrated a Pallister-Killian syndrome (PKS). PKS is a cytogenetically syndrome characterized by a tissue limited mosaic distribution of one isochromosome 12p (tetrasomy 12p). Clinical manifestations of PKS are variable, and some symptoms may overlap with other malformative syndromes, thus the correct diagnosis mainly depends on the demonstration of the specific cytogenetic abnormality.

  16. Trophic niche-space imaging, using resource and consumer traits

    NARCIS (Netherlands)

    Nagelkerke, L.A.J.; Rossberg, A.G.

    2014-01-01

    The strength of trophic (feeding) links between two species depends on the traits of both the consumer and the resource. But which traits of consumer and resource have to be measured to predict link strengths, and how many? A novel theoretical framework for systematically determining trophic traits

  17. Do Individuals with Autism Spectrum Disorders Infer Traits from Behavior?

    Science.gov (United States)

    Ramachandran, Rajani; Mitchell, Peter; Ropar, Danielle

    2009-01-01

    Background: Traits and mental states are considered to be inter-related parts of theory of mind. Attribution research demonstrates the influential role played by traits in social cognition. However, there has been little investigation into how individuals with autism spectrum disorders (ASD) understand traits. Method: The ability of individuals…

  18. Selection for production and reproduction traits in pigs.

    NARCIS (Netherlands)

    Vries, de A.G.

    1989-01-01

    IntroductionReproduction traits are important for piglet production, whereas production traits are important for fattening. Pig breeding organizations improve both groups of traits by selection in nucleus populations. Optimization of selection in these nucleus populations is important, becaus

  19. TOWARDS A REFINED STRUCTURE OF PERSONALITY-TRAITS

    NARCIS (Netherlands)

    DERAAD, B; HENDRIKS, AAJ; HOFSTEE, WKB

    1992-01-01

    In this article we pursue two goals. The first is a further articulation of the dimensionality of the Dutch trait domain. The second is a detailed mapping of the factorial trait structure, one which includes intelligible and proper niches for various nuances of the trait language and for different i

  20. TRAIT PROCRASTINATION AND THE BIG-5 FACTORS OF PERSONALITY

    NARCIS (Netherlands)

    SCHOUWENBURG, HC; LAY, CH

    1995-01-01

    Trait procrastination is viewed as a summary variable linked to the predisposition to engage in dilatory behaviour. This paper sought to trace the sources of trait procrastination by locating it within the five-factor personality structure. Study 1 concerned self-ratings on trait adjectives (in Dutc