... history of survived sudden cardiac arrest Because of the nature of the heart rhythm abnormality, medications usually aren’t used to treat Brugada syndrome. A medical device called an implantable cardioverter-defibrillator is the ...
Priori Silvia G
Full Text Available Abstract A novel clinical entity characterized by ST segment elevation in right precordial leads (V1 to V3, incomplete or complete right bundle branch block, and susceptibility to ventricular tachyarrhythmia and sudden cardiac death has been described by Brugada et al. in 1992. This disease is now frequently called "Brugada syndrome" (BrS. The prevalence of BrS in the general population is unknown. The suggested prevalence ranges from 5/1,000 (Caucasians to 14/1,000 (Japanese. Syncope, typically occurring at rest or during sleep (in individuals in their third or fourth decades of life is a common presentation of BrS. In some cases, tachycardia does not terminate spontaneously and it may degenerate into ventricular fibrillation and lead to sudden death. Both sporadic and familial cases have been reported and pedigree analysis suggests an autosomal dominant pattern of inheritance. In approximately 20% of the cases BrS is caused by mutations in the SCN5A gene on chromosome 3p21-23, encoding the cardiac sodium channel, a protein involved in the control of myocardial excitability. Since the use of the implantable cardioverter defibrillator (ICD is the only therapeutic option of proven efficacy for primary and secondary prophylaxis of cardiac arrest, the identification of high-risk subjects is one of the major goals in the clinical decision-making process. Quinidine may be regarded as an adjunctive therapy for patients at higher risk and may reduce the number of cases of ICD shock in patients with multiple recurrences.
Full Text Available Introduction. Brugada syndrome is an arrhythmogenic disease characterized by coved ST segment elevation and J point elevation of at least 2 mm in at least two of the right precordial ECG leads (V1-3 and ventricular arrhythmias, syncope, and sudden death. Risk stratifications of patients with Brugada electrocardiogram are being strongly debated. Case Outline. A 23-year-old man was admitted to the Coronary Care Unit of the Clinical Centre “Bežanijska kosa” due to weakness, fatigue and chest discomfort. The patient suffered from fainting and palpitations. There was a family history of paternal sudden death at 36 years. Electrocardiogram showed a coved ST segment elevation of 4 mm in leads V1 and V2, recognised as spontaneous type 1 Brugada pattern. Laboratory investigations revealed normal serum cardiac troponin T and serum potassium, and absence of inflammation signs. Echocardiographic finding was normal, except for a mild enlargement of the right atrium and ventricle. The diagnosis of Brugada syndrome was made by Brugada-type 1 electrocardiogram and the family history of sudden death <45 years. The patient was considered as a high risk, because of pre-syncope and palpitations. He underwent ICD implantation (Medtronic MaximoVR7232Cx using the standard procedure. After implantation, noninvasive electrophysiology study was done and demonstrated inducible VF that was interrupted with the second 35 J DC shock. The patient was discharged in stable condition with beta-blocker therapy. After a year of pacemaker check-ups, there were no either VT/ VF events or ICD therapy. Conclusion. Clinical presentation is the most important parameter in risk stratification of patients with Brugada electrocardiogram and Brugada syndrome.
Ammundsen, Henriette Berg; Ekelund, Kim; Afshari, Arash
Brugada syndrome (BS) is an inherited cardiac disease with increased risk of ventricular tachyarrythmias, cardiac arrest and sudden death. BS is diagnosed on various criteria including specific electrocardiographic abnormalities in a structurally normal heart. Many drugs have been reported to ind...
Monti, Manuel; Olivi, Giulia; Francavilla, Francesca; Borgognoni, Francesco
Brugada syndrome (BrS) is a genetic heart disorder due to alteration of the ion channels function that causes an impaired in the cardiac conduction system. It is characterized by an abnormal electrocardiogram pattern and may be complicated by malignant ventricular arrhythmias. Pericarditis is an inflammation of the pericardium and 90% of isolated cases of acute pericarditis are idiopathic or viral. Acute pericarditis may appears with chest pain, fever, pericardial friction rub, and cardiac tamponade. Moreover, widespread ST segment changes occur due to involvement of the underlying epicardium. A 27-year-old man was admitted to the Emergency Department of the …. Hospital due to fatigue and chest discomfort. Laboratory findings showed that WBC count and C-reactive protein were increased. Echocardiographic finding was normal. The patient was admitted with a diagnosis of pericarditis. Electrocardiogram (ECG) showed a "saddle back"-type ST elevation in leads V2, recognised as type 2 Brugada pattern. The ECG normalized within a few days after the beginning of anti-inflammatory therapy and the follow-up was uneventful. Based on findings in our patient and data from literature, we hypothesize that the patient developed a Brugada ECG pattern due the pericarditis. Our case report shows that the pericarditis may mimic BrS. Moreover, it is important to underline that a Brugada ECG pattern should only be considered as a sign of electrical heart disease but detailed diagnostic tests are anyway needed. Copyright © 2016 Elsevier Inc. All rights reserved.
Berne, Paola; Brugada, Josep
The Brugada syndrome is a genetically determined cardiac disorder, presenting with characteristic electrocardiogram features and high risk of sudden cardiac death from polymorphic ventricular tachycardia/ventricular fibrillation in young individuals with a structurally normal heart. Scientific knowledge about the disease has grown exponentially in recent years. Two consensus reports on the disease were published (in 2002 and 2005) in an effort to state diagnostic criteria, risk stratification, and treatment indications. However, substantial controversies remain, especially considering risk stratification of asymptomatic patients. Given the enormous amount of valuable information collected by many groups since the consensus reports, current diagnostic criteria, recommended prognostic tools, and treatment must be reviewed. This article briefly reviews recent advances in understanding of Brugada syndrome and its genetic and molecular basis, arrhythmogenic mechanisms, and clinical course. An update of tools for risk stratification and treatment of the condition is also included. Copyright © 2010 Elsevier Inc. All rights reserved.
Full Text Available Brugada Syndrome was initially described by Brugada brothers in their seminal paper published in the Journal of American College of Cardiology in 1992. The syndrome was characterized by syncopal episodes and/or sudden cardiac death in association with right bundle branch block pattern with ST segment elevation in right precordial leads. Genetic basis involving mutations in sodium channel (SCN5A was first described in 1998. But SCN5A mutations account for only about a fifth of the clinical cases of Brugada syndrome. Mutations in several other genes have been documented in later studies (at least 16 of them, though SCN5A mutation is the commonest. Life threatening ventricular arrhythmias with a structurally normal heart was the usual pattern in initial reports. But later on it was noted that several persons with similar ECG pattern never had any arrhythmias in their life time. There was significant variation in the severity of presentation between different regions of the world, with more malignant phenotypes noted in South East Asian countries.
Sandhya Manohar MD
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.
... occurs much more frequently in people of Asian ancestry, particularly in Japanese and Southeast Asian populations. Although Brugada syndrome affects both men and women, the condition appears to be 8 to 10 ...
Berne, Paola; Brugada, Josep
Brugada syndrome (BS) is a cardiac disorder characterized by typical ECG alterations, and it is associated with a high risk for sudden cardiac death (SCD), affecting young subjects with structurally normal hearts. The prevalence of this disorder is still uncertain, presenting marked geographical differences. The syndrome has a genetic basis, and several mutations have been identified in genes encoding subunits of cardiac sodium, potassium, and calcium channels, as well as in genes involved in the trafficking or regulation of these channels. Most BS patients are asymptomatic, but those who develop symptoms present with syncope and/or SCD secondary to polymorphic ventricular tachycardia and/or ventricular fibrillation. Risk stratification is still challenging, especially in cases of asymptomatic BS patients. This is a brief review of recent advances in our understanding of the genetic and molecular bases of BS, arrhythmogenic mechanisms and clinical course, as well as an update of the tools for risk stratification and treatment of the condition.
Tomé, Gonçalo; Freitas, João
Brugada syndrome is an inherited cardiac condition with the potential for development of life-threatening arrhythmias in relatively young individuals without significant structural cardiac abnormalities. The condition is characterized by a distinct coved-type ST segment elevation in the right precordial leads (V1-V3). This hallmark pattern (type 1) is often dynamic and sometimes concealed, and may be unmasked in certain conditions or under the effect of certain agents, which include variation of sympathovagal balance, hormones, metabolic factors and drugs. These factors may not only modulate electrocardiographic morphology and induce the characteristic type 1 pattern, but also predispose to ventricular arrhythmias. The risk of malignant arrhythmias in acute events with induced type 1 pattern may be imminent, particularly if the patient in fact has Brugada syndrome. The physician should be aware of the modulating factors that may underlie a Brugada pattern, and be able to recognize, identify and promptly correct them. The mechanisms responsible for the type 1 pattern and possible associated ventricular arrhythmias induced by these modulating factors have attracted growing attention and interest. Furthermore, not all induced Brugada ECG patterns are observed in patients with Brugada syndrome, existing the possibility for acquired Brugada patterns/syndrome and Brugada phenocopies. This paper reviews the modulating factors associated with induced type 1 pattern as possible causes of arrhythmogenesis, particularly in Brugada syndrome patients, describes some of the probable underlying mechanisms, and discusses the concepts of acquired Brugada syndrome and Brugada phenocopies. Copyright © 2017 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.
Full Text Available Brugada syndrome (BrS is an inherited cardiac disorder that is associated with an electrocardiogram pattern of ST segment elevation on right precordial leads and a high incidence of sudden death. Diagnosis requires documentation of a coved-type ST segment that occurs spontaneously or in the presence of a class IA or IC antiarrhythmic agent. A wide variety of other drugs, including antianginals, antidepressants, antipsychotics, and antihistamines, have been reported to unmask or induce the electrocardiographic and arrhythmic manifestations of BrS. This review focuses on drug-induced BrS phenotypes, prevalence, and underlying mechanisms.
Gourraud, Jean-Baptiste; Barc, Julien; Thollet, Aurélie; Le Marec, Hervé; Probst, Vincent
Brugada syndrome is a rare inherited arrhythmia syndrome leading to an increased risk of sudden cardiac death, despite a structurally normal heart. Diagnosis is based on a specific electrocardiogram pattern, observed either spontaneously or during a sodium channel blocker test. Among affected patients, risk stratification remains a challenge, despite recent insights from large population cohorts. As implantable cardiac defibrillators - the main therapy in Brugada syndrome - are associated with a high rate of complications in this population, the main challenge is risk stratification of patients with Brugada syndrome. Aside from the two main predictors of arrhythmia (symptoms and spontaneous electrocardiogram pattern), many risk factors have been recently suggested for stratifying risk of sudden cardiac death in Brugada syndrome. We have reviewed these data and discuss current guidelines in light of recent progress in this complex field. Copyright © 2017 Elsevier Masson SAS. All rights reserved.
Postema, Pieter G.; Vlaar, Alexander P. J.; DeVries, J. Hans; Tan, Hanno L.
We describe a case of diabetic ketoacidosis with concomitant hyperkalaemia that uncovered a typical Brugada syndrome electrocardiogram (ECG). Further provocation testing in the patient and his son confirmed familial Brugada syndrome. Diabetic ketoacidosis with hyperkalaemia may uncover an
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.
Benito, Begoña; Sarkozy, Andrea; Mont, Lluis; Henkens, Stephan; Berruezo, Antonio; Tamborero, David; Arzamendi, Dabit; Berne, Paola; Brugada, Pedro; Brugada, Josep; Brugada, Ramon
.... A male predominance has been reported in the Brugada syndrome. No specific data are available, however, concerning gender differences in the clinical manifestations and their role in prognosis...
Lee, Adam; Kohler, Heidi; Wright, Daniel; Haqqani, Haris M
Patients with Brugada syndrome are at risk of life-threatening ventricular arrhythmias. Epicardial substrate ablation for Brugada syndrome has been described as a means of controlling these arrhythmias and recent reports describe elimination of the Brugada phenotype with ablation. We describe a unique case in which a patient developed inferior J waves with an early repolarization-type electrocardiogram following successful epicardial infundibular substrate ablation (which eliminated the Brugada syndrome electrocardiogram on ajmaline challenge). We discuss the likely underlying pathophysiology responsible for this phenomenon, its relationship to the anatomic obstacles encountered during epicardial ablation, and the implications for long-term arrhythmic risk. © 2017 Wiley Periodicals, Inc.
Full Text Available Background: Brugada syndrome (BS is a disorder characterized by syncope or sudden death associated with one of several electrocardiographic (ECG patterns characterized by incomplete right bundle branch block and ST elevation in the anterior precordial leads. Patients with BS are prone to develop ventricular tachyarrhythmias that may lead to syncope, cardiac arrest, or sudden cardiac death. Case report. A 58-year-old woman is the first described case of Brugada syndrome in Serbia with intermittent typical changes in basic electrocardiography (ECG: ST segment elevation in the precordial chest leads like dome or coved - major form or type I. For the last 27 years the patient had suffered of palpitations and dizziness, without syncopal events. Her sister had died suddenly during the night in sleep. During 24-hour Holter monitoring the patient had ventricular premature beats during the night with R/T phenomenon and during the recovery phase of exercise testing had rare premature ventricular beats as the consequence of parasympatethic stimulation. Late potentials were positive. Echocardiography revealed left ventricular ejection fraction of 60%. We performed coronary angiography and epicardial coronary arteries were without significant stenosis and structural heart disease was excluded. In the bigining of the electrophysiological study ECG was normal, and after administration of Propaphenon i.v. Brugada syndrome unmasked with appearance of type I ECG pattern. A programed ventricular stimulation induced non sustained ventricular tachycardia. One-chamber implantable cardioverter defibrillator was implanted and the patient was treated with a combination od amiodarone and metoprolol per os. After one-year follow-up, there were no episodes of ventricular tachycardia and ventricular fibrillation. Conclusion. Brugada syndrome is a myocardial disorder which prognosis and therapy are related to presence of ventricular fibrillation or ventricular tachycardia
disorders should be performed in children who exhibit extreme tachycardia or signs of cardiac failure. Keywords: Brugada ... Discussion. The prevalence of Brugada-type ECG in Africa is unknown although a few adult-cases of African- ... without acute coronary syndrome, and (e) or type 1 ST pattern in relatives. Our patient's ...
Miklashevich, I M; Kuleshova, E V; Termosesov, S A; Shkolnikova, M A
The Brugada syndrome (BS) belongs to the group of hereditary channelopathies associated with elevated risk of sudden death (SD) in the absence of structural heart diseases. The disorder phenotypically manifests by specific electrocardiographic pattern, associated with ventricular tachycardia (VT). VT can be accompanied by loss of conscience, and after transformation to ventricular fibrillation result in SD. BS is extremely rare among children and adolescents. We present here a clinical case of teenager (age 17 years) with BS manifested by syncopal state at the background of fever.
Konigstein, Maayan; Rosso, Raphael; Topaz, Guy; Postema, Pieter G; Friedensohn, Limor; Heller, Karin; Zeltser, David; Belhassen, Bernard; Adler, Arnon; Viskin, Sami
Cardiac arrest may result from seemingly innocuous medications that do not necessarily have cardiac indications. The best-known example is the drug-induced long QT syndrome. A less known but not necessarily less important form of drug-induced proarrhythmia is the drug-induced Brugada syndrome. The purpose of this study was to identify clinical and ECG risk markers for drug-induced Brugada syndrome. Reports of drug-induced Brugada syndrome recounted by an international database (http://www.brugadadrugs.org) were reviewed to define characteristics that identify patients prone to developing this complication. For each patient with drug-induced Brugada syndrome who had an ECG recorded in the absence of drugs, we included 5 healthy controls matched by gender and age. All ECGs were evaluated for Brugada-like abnormalities. Seventy-four cases of drug-induced Brugada syndrome from noncardiac medications were identified: 77% were male, and drug toxicity was involved in 46%. Drug-induced Brugada syndrome from oral medications generally occurred weeks after the initiation of therapy. Mortality was 13%. By definition, all cases had a type I Brugada pattern during drug therapy. Nevertheless, their ECG in the absence of drugs was more frequently abnormal than the ECG of controls (56% vs 33%, P = .04). Drug-induced Brugada syndrome from noncardiac drugs occurs predominantly in adult males, is frequently due to drug toxicity, and occurs late after the onset of therapy. Minor changes are frequently noticeable on baseline ECG, but screening is impractical because of a prohibitive false-positive rate. Copyright © 2016 Heart Rhythm Society. Published by Elsevier Inc. All rights reserved.
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.
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].
Rodríguez-Mañero, Moisés; Casado-Arroyo, Rubén; Sarkozy, Andrea; Leysen, Eva; Sieira, Juan Antonio; Namdar, Mehdi; Conte, Gulio; Levinstein, Moisés; Chierchia, Gian-Battista; de Asmundis, Carlo; Brugada, Pedro
Little is known about the risks and outcomes of pregnancy in women with Brugada syndrome. We therefore evaluated pregnancy outcomes and the influence of pregnancy in patients with Brugada syndrome. A retrospective analysis was performed in all pregnant women with Brugada syndrome. We included 104 women with a total of 219 deliveries. There were 15 spontaneous abortions. One infant died suddenly during the night 3 months after birth. Six pregnant women reported they had experienced at least 1 syncope during the pregnancy. Of the 3 women who received an implantable cardioverter-defibrillator before the pregnancy, none received arrhythmia episodes. There were no events during the pregnancy in 4 patients with a previously aborted sudden cardiac death. Of 24 patients with syncope when not pregnant, 18 were asymptomatic and 6 experienced a recurrent syncope during the pregnancy. During the follow-up (mean follow-up 298.9 days; 95% confidence interval, 289.6-308.2), 2 women received appropriate shocks. In this retrospective, single-center study, serious events were not more frequent during pregnancy and the peripartum period in women with Brugada syndrome. The occurrence of syncope during pregnancy was not associated with a worst outcome in the peri- and postpartum periods or during follow-up. The reported rate of miscarriage and sudden infant death will require further studies to confirm or rule out its association with Brugada syndrome. Copyright © 2013 Sociedad Española de Cardiología. Published by Elsevier Espana. All rights reserved.
Konigstein, Maayan; Rosso, Raphael; Topaz, Guy; Postema, Pieter G.; Friedensohn, Limor; Heller, Karin; Zeltser, David; Belhassen, Bernard; Adler, Arnon; Viskin, Sami
Cardiac arrest may result from seemingly innocuous medications that do not necessarily have cardiac indications. The best-known example is the drug-induced long QT syndrome. A less known but not necessarily less important form of drug-induced proarrhythmia is the drug-induced Brugada syndrome. The
Frolke, J.P.M.; Bruggeman, A.W.A.; Klomp, F.P.; Smeets, J.L.R.M.
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
Full Text Available 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.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.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.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.
Brugada syndrome is an autosomal-dominant arythmogenic genetic disorder associated with mutation in the SCN5A gene. We report a case of 3-month-old Tanzanian male who was admitted at Muhimbili National Hospital in Dar es Salaam, Tanzania with severe pneumonia, high fever and monomorphic ventricular ...
Sorgente, A.; Sarkozy, A.; Asmundis, C. de; Chierchia, G.B.; Capulzini, L.; Paparella, G.; Henkens, S.; Brugada, P.
BACKGROUND: The clinical characteristics and the results of ajmaline challenge in young individuals with suspected Brugada syndrome (BS) have not been systematically investigated. METHODS: Among a larger series of patients included in the BS database of our Department, 179 patients undergoing
Postema, Pieter G.
This editorial refers to the study of Adler, Viskin and colleagues, in which it appears that a Brugada syndrome ECG is much more prevalent in patients with fever than in afebrile patients. This does not yet warrant a widespread diagnostic effort in patients with fever but may be relevant for certain
Probst, Vincent; Denjoy, Isabelle; Meregalli, Paola G.; Amirault, Jean-Christophe; Sacher, Frederic; Mansourati, Jacques; Babuty, Dominique; Villain, Elisabeth; Victor, Jacques; Schott, Jean-Jacques; Lupoglazoff, Jean-Marc; Mabo, Philippe; Veltmann, Christian; Jesel, Laurence; Chevalier, Philippe; Clur, Sally-Ann B.; Haissaguerre, Michel; Wolpert, Christian; Le Marec, Herve; Wilde, Arthur A. M.
BACKGROUND: Brugada syndrome is an arrhythmogenic disease characterized by an ECG pattern of ST-segment elevation in the right precordial leads and augmented risk of sudden cardiac death. Little is known about the clinical presentation and prognosis of this disease in children. METHODS AND RESULTS:
Probst, V.; Veltmann, C.; Eckardt, L.; Meregalli, P. G.; Gaita, F.; Tan, H. L.; Babuty, D.; Sacher, F.; Giustetto, C.; Schulze-Bahr, E.; Borggrefe, M.; Haissaguerre, M.; Mabo, P.; Le Marec, H.; Wolpert, C.; Wilde, A. A. M.
Background-Brugada syndrome is characterized by ST-segment elevation in the right precordial leads and an increased risk of sudden cardiac death (SCD). Fundamental questions remain on the best strategy for assessing the real disease-associated arrhythmic risk, especially in asymptomatic patients.
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.
Conclusion: Inappropriate shock is common in Brugada syndrome during the early periods after an ICD implantation, and seems to be more likely in asymptomatic patients. This finding may warrant a review of the indications for ICD implantation, especially in the young and apparently healthy population of patients with Brugada syndrome.
Tfelt-Hansen, J; Jespersen, Thomas; Hofman-Bang, J
The aim of the present study was to identify the molecular mechanism behind ventricular tachycardia in a patient with Brugada syndrome. Arrhythmias in patients with Brugada syndrome often occur during sleep. However, a 28-year-old man with no previously documented arrhythmia or syncope who...
Andreasen, Laura; Nielsen, Jonas B; Darkner, Stine
Several studies have shown an overlap between genes involved in the pathophysiological mechanisms of atrial fibrillation (AF) and Brugada Syndrome (BrS). We investigated whether three single-nucleotide polymorphisms (SNPs) (rs11708996; G>C located intronic to SCN5A, rs10428132; T>G located in SCN...... 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....
Oliván, B; Arbeláez, A; de Miguel, M; Pelavski, A
Brugada syndrome is an autosomal dominant genetic disease affecting sodium ion channels. It is characterised by right bundle branch block and ST elevation in the right precordial leads, and with no structural cardiac abnormalities. It is associated with sudden death. This disease may be unmasked by certain drugs and sudden changes in autonomic tone. Local anaesthetics may increase ECG changes due to a blockade of the sodium channels, mainly depending on the dose and the type of anaesthetic. Thus, there have been reported electrocardiographic changes consistent with Brugada syndrome, triggered after epidural or paravertebral infusion of bupivacaine and ropivacaine. The case is described of a 66 years old man, scheduled for inguinal herniorrhaphy as an outpatient. He had no history of syncope or arrhythmias. After spinal anaesthesia with 40mg of prilocaine the ECG showed ST elevation>2mm, and right bundle branch block in V1-V3. Copyright © 2015 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Publicado por Elsevier España, S.L.U. All rights reserved.
Tfelt-Hansen, J; Jespersen, T; Hofman-Bang, J
The aim of the present study was to identify the molecular mechanism behind ventricular tachycardia in a patient with Brugada syndrome. Arrhythmias in patients with Brugada syndrome often occur during sleep. However, a 28-year-old man with no previously documented arrhythmia or syncope who...... experienced shortness of breath and chest pain during agitation is described. An electrocardiogram revealed monomorphic ventricular tachycardia; after he was converted to nodal rhythm, he spontaneously went into sinus rhythm, and showed classic Brugada changes with coved ST elevation in leads V(1) to V(2...
Hoogendijk, Mark G.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Brugada syndrome are distinct clinical entities which diagnostic criteria exclude their coexistence in individual patients. ARVC is a myocardial disorder characterized by fibro-fatty replacement of the myocardium and ventricular arrhythmias.
Daniella, Rakotoniaina Masinarivo; Anjaramalala, Rasolonjatovo; Ramiandrisoa; Freddie, Raveloson; Solofonirina, Rakotoarimanana; Nirina, Rabearivony
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
Turker, Isik; Ai, Tomohiko; Itoh, Hideki; Horie, Minoru
Since the early 1990s, the concept of primary "inherited" arrhythmia syndromes or ion channelopathies has evolved rapidly as a result of revolutionary progresses made in molecular genetics. Alterations in genes coding for membrane proteins such as ion channels or their associated proteins responsible for the generation of cardiac action potentials (AP) have been shown to cause specific malfunctions which eventually lead to cardiac arrhythmias. These arrhythmic disorders include congenital long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, short QT syndrome, progressive cardiac conduction disease, etc. Among these, long QT and Brugada syndromes are the most extensively studied, and drugs cause a phenocopy of these two diseases. To date, more than 10 different genes have been reported to be responsible for each syndrome. More recently, it was recognized that long QT syndrome can be latent, even in the presence of an unequivocally pathogenic mutation (silent mutation carrier). Co-existence of other pathological conditions in these silent mutation carriers may trigger a malignant form of ventricular arrhythmia, the so called torsade de pointes (TdP) that is most commonly brought about by drugs. In analogy to the drug-induced long QT syndrome, Brugada type 1 ECG can also be induced or unmasked by a wide variety of drugs and pathological conditions; so physicians may encounter patients with a latent form of Brugada syndrome. Of particular note, Brugada syndrome is frequently associated with atrial fibrillation whose therapeutic agents such as Vaughan Williams class IC drugs can unmask the dormant and asymptomatic Brugada syndrome. This review describes two types of drug-induced arrhythmias: the long QT and Brugada syndromes. Copyright © 2017. Published by Elsevier Inc.
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.
Jasper J. Chen
Full Text Available Background. Brugada syndrome is rare and has been a clinically diagnosable entity since 1992. Its clinical manifestations are highly variable, and while some patients remain asymptomatic, others endure sudden cardiac death. Initial presenting symptoms may include palpitations, seizures, syncope, and nocturnal agonal respiration. The diagnosis of Brugada syndrome relies on both clinical findings and characteristic ECG patterns that occur spontaneously or are induced by usage of sodium-channel blocking agents. Aims of Case Report. Many psychiatrists may be unaware of the possibility of medical cocontributing etiologies to physical symptoms of anxiety and depression. We present a case of a patient who was treated psychiatrically for anxiety and panic attacks and who was subsequently diagnosed with Brugada syndrome and treated medically with an implantable cardioverter defibrillator (ICD, the only treatment option demonstrated to be effective. Her psychiatric symptoms predated her diagnosis of Brugada syndrome by at least fifteen years. Conclusion. The patient's eventual diagnosis of Brugada syndrome altered the course of her psychopharmacologic medication management and illustrates the utility of a psychosomatic approach to psychiatric symptom management.
Full Text Available For the last ten years, applying new sequencing technologies to thousands of whole exomes has revealed the high variability of the human genome. Extreme caution should thus be taken to avoid misinterpretation when associating rare genetic variants to disease susceptibility. The Brugada syndrome (Brs is a rare inherited arrhythmia disease associated with high risk of sudden cardiac death (SCD in the young adult. Familial inheritance has long been described as Mendelian, with autosomal dominant mode of transmission and incomplete penetrance. However, all except one of the 23 genes previously associated with the disease have been identified through a candidate gene approach. To date, only rare coding variants in the SCN5A gene have been significantly associated with the syndrome. However, the genotype/phenotype studies conducted in families with SCN5A mutations illustrate the complex mode of inheritance of Brs. This genetic complexity has recently been confirmed by the identification of common polymorphic alleles strongly associated with disease risk.The implication of both rare and common variants in Brs susceptibility implies that one should first define a proper genetic model for Brs predisposition prior to applying molecular diagnosis. Although long remains the way to personalized medicine against Brs, the high phenotype variability encountered in familial forms of the disease may partly find an explanation into this specific genetic architecture.
van Hoorn, Frans; Campian, Maria E.; Spijkerboer, Anje; Blom, Marieke T.; Planken, R. Nils; van Rossum, Albert C.; de Bakker, Jacques M. T.; Wilde, Arthur A. M.; Groenink, Maarten; Tan, Hanno L.
Background: The cardiac sodium channel (Na(v)1.5) controls cardiac excitability. Accordingly, SCN5A mutations that result in loss-of-function of Na(v)1.5 are associated with various inherited arrhythmia syndromes that revolve around reduced cardiac excitability, most notably Brugada syndrome (BrS).
Full Text Available Abstract Cardiology has recently witnessed the production of an overwhelming amount of data through the advances made in genetics and molecular biology research. Understanding of genetics has tremendous potential to aid in the prevention, diagnosis and treatment of the majority of diseases. Despite the high level of publicity for research discoveries, clinicians have had difficulty in discriminating between what is still basic research and what can be applied to patients. The fact is that we still lack the technology to perform genetic testing in a time frame that is acceptable to clinicians. Meanwhile, then, the only option is to rely on clinical tests that can help us better stratify the individuals at risk for a disease. For example, Brugada syndrome has benefited tremendously from genetics and molecular biology since its initial description in 1992. Genetics will provide a more definitive diagnosis for the disease in the future. For the time being, though, research has shown that the administration of an intravenous class I antiarrhythmic is very useful in identifying patients with a concealed form of the disease.
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.
Aizawa, Yoshiyasu; Takatsuki, Seiji; Sano, Motoaki; Kimura, Takehiro; Nishiyama, Nobuhiro; Fukumoto, Kotaro; Tanimoto, Yoko; Tanimoto, Kojiro; Murata, Mitsushige; Komatsu, Takashi; Mitamura, Hideo; Ogawa, Satoshi; Funazaki, Toshikazu; Sato, Masahito; Aizawa, Yoshifusa; Fukuda, Keiichi
The characteristic ECG of Brugada syndrome (BS) can be masked by complete right bundle-branch block (CRBBB) and exposed by resolution of the block or pharmacological or pacing maneuvers. The study consisted of 11 patients who had BS and CRBBB. BS was diagnosed before the development of CRBBB, on the resolution of CRBBB, or from new characteristic ST-segment changes that could be attributable to BS. Structural heart diseases were excluded, and coronary spasm was excluded on the basis of a provocation test at catheterization. In 7 patients, BS was diagnosed before the development of CRBBB. BS was diagnosed when CRBBB resolved spontaneously (n=1) or by right ventricular pacing (n=3). The precipitating cause for the spontaneous resolution of CRBBB, however, was not apparent. On repeated ECGs, new additional upward-convex ST-segment elevation was found in V2 or V3 in 3 patients. In 2 patients, new ST-segment elevation was induced by class IC drugs. The QRS duration was more prolonged in patients with BS and CRBBB compared with age- and sex-matched controls: 170±13 versus 145±15 milliseconds in V1 and 144±19 versus 128±7 milliseconds in V5 (both Pmask BS. BS might be demonstrated by relief of CRBBB or by spontaneous or drug-induced ST-segment elevation. The prevalence, mechanism, and clinical significance of a combination of CRBBB and BS are yet to be determined.
Antzelevitch, Charles; Patocskai, Bence
The Brugada syndrome (BrS) is an inherited cardiac arrhythmia syndrome first described as a new clinical entity in 1992. Electrocardiographically characterized by distinct coved type ST segment elevation in the right precordial leads, the syndrome is associated with a high risk for sudden cardiac death in young adults, and less frequently in infants and children. The ECG manifestations of the BrS are often concealed and may be unmasked or aggravated by sodium channel blockers, a febrile state, vagotonic agents, as well as by tricyclic and tetracyclic antidepressants. An implantable cardioverter defibrillator (ICD) is the most widely accepted approach to therapy. Pharmacological therapy is designed to produce an inward shift in the balance of currents active during the early phases of the right ventricular action potential and can be used to abort electrical storms or as an adjunct or alternative to device therapy when use of an ICD is not possible. Isoproterenol, cilostazol and milrinone boost calcium channel current and drugs like quinidine, bepridil and the Chinese herb extract Wenxin Keli inhibit the transient outward current, acting to diminish the action potential (AP) notch and thus to suppress the substrate and trigger for VT/VF. Radiofrequency ablation of the right ventricular outflow tract epicardium of BrS patients has recently been shown to reduce arrhythmia-vulnerability and the ECG-manifestation of the disease, presumably by destroying the cells with more prominent AP notch. This review provides an overview of the clinical, genetic, molecular and cellular aspects of the BrS as well as the approach to therapy. PMID:26671757
Barajas-Martínez, Héctor; Hu, Dan; Antzelevitch, Charles
Brugada syndrome is a genetic disease that is characterized by abnormal electrocardiogram findings and an increased risk of sudden cardiac death. This syndrome is linked to mutations in the SCN5A gene in approximately 20% of Brugada syndrome probands. SCN5A encodes the α subunit of the cardiac sodium channel. Studies conducted over the past decade have identified 11 other Brugada syndrome susceptibility genes besides to SCN5A, pointing to genetic heterogeneity of the syndrome. Transmission of the disease shows an autosomal dominant inheritance pattern. This brief review focuses on a reported case of sodium channel-mediated Brugada syndrome, guiding the reader through the process of identification of the genetic variants responsible for the clinically-diagnosed syndrome, mutagenesis to clone SCN5A with and without the 2 variants identified and transfection of the 2 variants into TSA201 cells to determine the functional consequence of these genetic variants on sodium channel expression and function. Copyright © 2013 Instituto Nacional de Cardiología Ignacio Chávez. Published by Masson Doyma México S.A. All rights reserved.
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.
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.
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
Probst, Vincent; Wilde, Arthur A. M.; Barc, Julien; Sacher, Frederic; Babuty, Dominique; Mabo, Philippe; Mansourati, Jacques; Le Scouarnec, Solena; Kyndt, Florence; Le Caignec, Cedric; Guicheney, Pascale; Gouas, Laetitia; Albuisson, Juliette; Meregalli, Paola G.; Le Marec, Hervé; Tan, Hanno L.; Schott, Jean-Jacques
Mutations in SCN5A are identified in approximately 20% to 30% of probands affected by Brugada syndrome (BrS). However, in familial studies, the relationship between SCN5A mutations and BrS remains poorly understood. The aim of this study was to investigate the association of SCN5A mutations and BrS
Raimundo Carmona Puerta
Full Text Available The increasing number of ion channelopathies discovered in the heart, with fatal consequences, implies that the specialists involved in the management of these patients must strive to reach a better understanding of basic cardiac electrophysiology. In the Brugada syndrome, up to six genotypes have already been described with affectations in the sodium, calcium and potassium (Ito type channels. In all cases there is a typical electrocardiogram which shows right precordial leads due to the transmural dispersion of repolarization, more pronounced in the region of the outflow tract of the right ventricle. The disease may be asymptomatic or have sudden death as its first manifestation. The implantable defibrillator is considered the most effective treatment, but it can be combined with quinidine to space the shocks and abort electrical storms.
Blom, M.T.; Cohen, D.; Seldenrijk, A.; Penninx, B.W.J.H.; Nijpels, G.; Stehouwer, C.D.A.; Dekker, J.M.; Tan, H.L.
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
Behar, Nathalie; Petit, Bertrand; Probst, Vincent; Sacher, Frederic; Kervio, Gaelle; Mansourati, Jacques; Bru, Paul; Hernandez, Alfredo; Mabo, Philippe
Modulation of ST-segment elevation (STE) and tachyarrhythmic events by the autonomic nervous system (ANS) has been reported in patients with Brugada syndrome (BS). This study examined and compared the autonomic characteristics and STE in symptomatic vs. asymptomatic patients with BS. We studied 40 symptomatic and 78 asymptomatic patients (mean age = 46.1 ± 13.7 years; 88 men) who underwent 24 h, 12-lead electrocardiograms, and exercise and a head-up tilt tests. Heart rate variability was examined and STE was measured at 5 points between 100 and 140 ms after the onset of 1 min averaged QRS complexes, and the type 1 Brugada pattern was automatically identified. 'Type 1 Brugada burden' was the percentage of averaged type 1 complexes. All measurements were made over 24 h, and during day and night times. During daytime, the variation coefficients of standard deviation of normal-to-normal intervals were 39.0 ± 12.3 vs. 34.1 ± 14.5 ms (P< 0.05) and high frequency normalized units were 39.9 ± 16.9 vs. 33.9 ± 16.2% (P< 0.05) in symptomatic vs. asymptomatic patients, respectively. ST-segment elevation was similar in symptomatic and asymptomatic patients at all time points. The type 1 Brugada burden in V2 was 38.7 ± 33.6% in the symptomatic vs. 24.3 ± 35.2% in the asymptomatic sample, a statistically non-significant difference. This analysis of ANS did not identify sensitive predictors of arrhythmic events in patients with BS. We observed, however, greater fluctuations in sinus node response to ANS in symptomatic patients. The type 1 Brugada electrocardiographic pattern was not as reliable a predictor of arrhythmic risk as previously reported.
Full Text Available Electrical storm occurring in a patient with the Brugada syndrome is an exceptional but malignant and potentially lethal event. Efficient therapeutic solutions should be known and urgently applied because of the inability of usual antiarrhythmic means in preventing multiple recurrences of ventricular arrhythmias. Isoproterenol should be immediately infused while oral quinidine should be further administrated when isoproterenol is not effective. inefficient. In case of failure of these therapeutic options, ablation of the triggering ventricular ectopies should be attempted
Holst, Anders Gaarsdal; Jensen, Henrik Kjærulf; Eschen, Ole
Brugada syndrome (BrS) is an inherited channelopathy that predisposes to malignant ventricular arrhythmias and thereby syncope and sudden cardiac death. Prior studies characterizing BrS patients have used highly selected referral populations from tertiary centres and prevalence estimates have bee...... carried out using electrocardiogram (ECG) surveys only. We aimed to identify and characterize all diagnosed BrS patients in Denmark (population 5.4 million)....
Full Text Available Introduction Brugada syndrome (BrS is an autosomal-dominant inherited cardiac arrhythmia that occurs due to sodium channelopathy and increases sudden cardiac death due to episodes of polymorphic ventricular tachyarrhythmia. It is characterized by ST-segment elevation in the right precordial leads and right bundle branch block (RBBB pattern. We herewith present a case of Brugada syndrome with an unusual presentation. Case Presentation A 2.5-year-old girl with a history of quadriplegic cerebral palsy was admitted due to aspiration pneumonia. Cardiovascular examination and echocardiography was normal. She had a history of surgery for gastro esophageal reflux disease and was under treatment with pantoprazole. Electrocardiogram revealed ST-segment elevation in the right precordial leads (V1 - V3. The patient died during hospitalization due to cardiac arrest before any intervention. Conclusions The most important feature of Brugada syndrome is clinically suspicion. Therefore it should be considered in cases with uncontrolled seizures, stroke, refractory seizures, recurrent syncope, repeated attacks VT and conduct disorders like RBBB in the absence of structural cardiac and metabolic disorders.
Kostopoulou, Anna; Koutelou, Maria; Theodorakis, Georgios; Theodorakos, Athanasios; Livanis, Efthimios; Maounis, Themistoklis; Chaidaroglou, Antigoni; Degiannis, Dimitrios; Voudris, Vassilis; Kremastinos, Dimitrios; Cokkinos, Dennis
The aim of this study was to examine autonomic disorders in patients with Brugada syndrome by performing a cardiac sympathetic innervation evaluation, a head-up tilt-test (HUT) and heart rate variability (HRV) analysis. We enrolled 20 patients with Brugada syndrome (mean age 42.5 +/- 8.8 years), 9 with spontaneous and 11 with an induced type 1 electrocardiogram (ECG) in the setting of symptoms and 20 age-matched controls. All subjects underwent a HUT with parallel measurements of plasma catecholamines and cortisol, a (123)I-metaiodobenzylguanidine single photon emission tomography, and HRV evaluation. Ten control subjects participated in the innervation portion of the study. The tilt-test with clomipramine challenge was positive in 15 of 20 (75%) patients (7 spontaneous, 8 induced) and in 1 in controls (P vasovagal syncope was observed in patients with Brugada syndrome, which could be disease-related symptoms. Conversely, sympathetic innervation was observed to follow a physiological, heterogenic pattern; however, these factors did not have prognostic value for life-threatening arrhythmias.
Full Text Available Idiopathic ventricular fibrillation can be caused by subclinical channelopathies such as Brugada syndrome. Our objective is to study the clinical behaviour of a new SCN5A mutation found in a woman with idiopathic ventricular fibrillation. A 53-year-old woman presented with multiple episodes of ventricular fibrillation, a structurally normal heart and normal baseline electrocardiogram. Genetic testing included KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2 and KCNJ2 and identified a mutation in SCN5A (D1816fs/g98747-98748insT. We studied 15 immediate family members by means of electrocardiogram, echocardiogram, flecainide challenge test and genetic study. Eight subjects had the mutation. The flecainide challenge test was positive for Brugada syndrome in two subjects in the case group and none in the control group. The PR and QRS intervals on the baseline electrocardiogram were longer in the case group. The left atrial volume indexed to body surface was higher in the case group, likely due to the fact that two patients with the mutation had atrial fibrillation and none had it in the control group. The D1816fs/g98747-98748insT mutation in SCN5A may be associated with idiopathic ventricular fibrillation and Brugada syndrome with a broad phenotypic spectrum and incomplete penetrance. Genetic testing may be useful to identify the etiology of idiopathic ventricular fibrillation in patients with a negative thorough clinical evaluation.
Postema, Pieter G.; Wolpert, Christian; Amin, Ahmad S.; Probst, Vincent; Borggrefe, Martin; Roden, Dan M.; Priori, Silvia G.; Tan, Hanno L.; Hiraoka, Masayasu; Brugada, Josep; Wilde, Arthur A. M.
BACKGROUND Worldwide, the Brugada syndrome has been recognized as an important cause of sudden cardiac death in individuals at a relatively young age. Importantly, many drugs have been reported to induce the characteristic Brugada syndrome-linked ECG abnormalities and/or (fatal) ventricular
Kim, Sung-Hwan; Nam, Gi-Byoung; Yun, Sung-Cheol; Choi, Hyung Oh; Choi, Kee-Joon; Joung, Boyoung; Pak, Hui-Nam; Lee, Moon-Hyoung; Kim, Sung Soon; Park, Seung-Jung; On, Young Keun; Kim, June Soo; Oh, Il-Young; Choi, Eue-Keun; Oh, Seil; Choi, Yun-Shik; Choi, Jong Il; Park, Sang Weon; Kim, Young-Hoon; Oh, Yong-Seog; Lee, Man Young; Lim, Hong Euy; Lee, Young-Soo; Cho, Yongkeun; Kim, Jun; Rhee, Kyoung-Suk; Lee, Dong-Il; Cho, Dae Kyoung; Kim, You-Ho
The role of J-waves in the pathogenesis of ventricular fibrillation (VF) occurring in structurally normal hearts is important. We evaluated 127 patients who received an implantable cardioverter-defibrillator (ICD) for Brugada syndrome (BS, n = 53), early repolarization syndrome (ERS, n = 24), and patients with unknown or deferred diagnosis (n = 50). Electrocardiography (ECG), clinical characteristics, and ICD data were analyzed. J-waves were found in 27/50 patients with VF of unknown/deferred diagnosis. The J-waves were reminiscent of those seen in BS or ERS, and this subgroup of patients was termed variants of ERS and BS (VEB). In 12 VEB patients, the J/ST/T-wave morphology was coved, although amplitudes were J/ST/T-waves were present in the right precordial leads. In the remaining 23 patients, no J-waves were identified. VEB patients exhibited clinical characteristics similar to those of BS and ERS patients. Phenotypic transition and overlap were observed among patients with BS, ERS, and VEB. Twelve patients with BS had background inferolateral ER, while five ERS patients showed prominent right precordial J-waves. Patients with this transient phenotype overlap showed a significantly lower shock-free survival than the rest of the study patients. VEB patients demonstrate ECG phenotype similar to but distinct from those of BS and ERS. The spectral nature of J-wave morphology/distribution and phenotypic transition/overlap suggest a common pathophysiologic background in patients with VEB, BS, and ERS. Prognostic implication of these ECG variations requires further investigation. © 2016 Wiley Periodicals, Inc.
Risgaard, Bjarke; Bundgaard, Henning; Jabbari, Reza
Brugada syndrome (BrS) is a rare and inherited primary arrhythmic syndrome characterized by ST-segment elevations in the right precordial leads (V1-V3) with an increased risk of sudden cardiac death (SCD). Arrhythmias in BrS are often nocturne, and brady-arrhythmias are often seen in patients...... 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...
María Isabel Ruiz
Full Text Available El síndrome de Brugada es una cardiopatía genética y no estructural debida a una alteración primaria de los canales iónicos del miocardio y que se asocia a un riesgo de muerte súbita. Hay tres patrones electrocadiográficos diagnósticos o sugerentes de síndrome de Brugada, que pueden ser identificados en un reconocimiento médico rutinario y que, de confirmarse el diagnóstico, pueden llevar a la necesidad de implantar un desfibrilador automático que puede salvar la vida del paciente. Se presente un caso asintomático diagnosticado en un reconocimiento laboral y se revisa la conducta a seguir ante un síndrome de Brugada.Brugada syndrome is a genetic, non-structural heart disease caused by a primary alteration of the myocardial ion channels and it is associated with increased risk of sudden death. There are three electrocardiographic patterns diagnostic or suggestive of Brugada syndrome which can be identified in routine medical examinations. If the diagnosis is confirmed, implantation of an automatic defibrillator may be life-saving. We report an asymptomatic case of Brugada syndrome diagnosed during an occupational health check and review the steps to be followed after diagnosis of this syndrome.
Providência, Rui; Carmo, Pedro; Moscoso Costa, Francisco; Cavaco, Diogo; Morgado, Francisco; Scanavacca, Mauricio; Adragão, Pedro
The authors report the first catheter ablation of Brugada syndrome in the literature using the Rhythmia™ mapping system. Learning points include: (1) low voltage areas can be documented while mapping in some individuals, suggesting that Brugada syndrome may not be a pure ion channel disorder; (2) typical long fractionated potentials can also be identified in the endocardium, supporting the need to map the endocardium in all Brugada patients requiring ablation; (3) disappearance of the typical coved pattern following ablation does not necessarily predict cure, as the patient we present experienced ventricular fibrillation recurrence a few months later. Copyright © 2017 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.
Pietro Paolo Martorano
Full Text Available Brugada syndrome (BrS is one of the most common causes of sudden death in young people. It usually presents with life-threatening arrhythmias in subjects without remarkable medical history. The need for surgical treatment may unmask BrS in otherwise asymptomatic patients. The best anaesthesiological treatment in such cases is matter of debate. We report a case of neurosurgical treatment of cerebello pontine angle (CPA tumor in a BrS patient, performed under total intravenous anesthesia (TIVA with target controlled infusion (TCI modalities, using midazolam plus remifentanil and rocuronium, without recordings of intraoperative ECG alterations in the intraoperative period and postoperative complications.
Battineni, Anusha; Gummi, Rohit; Mullaguri, Naresh; Govindarajan, Raghav
Amyotrophic lateral sclerosis is a fatal neuromuscular disorder characterized by progressive death of the upper and lower motor neurons in the central nervous system. Patients with this disease die mostly as a result of respiratory failure; however, owing to prolonged survival through assisted ventilation, cardiovascular causes are increasingly responsible for mortality. We report what is to the best of our knowledge the first case of type 2 Brugada syndrome causing ventricular tachyarrhythmia and cardiac arrest in a patient with upper limb onset amyotrophic lateral sclerosis. A 48-year-old Caucasian woman with a significant past medical history of papillary thyroid carcinoma status postresection, pulmonary embolism on anticoagulation, and a recent diagnosis of right upper limb-onset amyotrophic lateral sclerosis presented to the emergency department of our hospital with acute on chronic shortness of breath. On further evaluation, she was found to have hypoxic and hypercapnic respiratory failure and was placed on bilevel positive airway pressure ventilation. Her 12-lead electrocardiogram showed sinus rhythm with J-point elevation, saddle-shaped ST segment elevation, predominantly in V1 and V2 with no significant QTc prolongation. No troponin elevation was noted in her laboratory workup. Because she was unable to protect her airway, a decision was made to intubate her. After 1 minute of induction with etomidate and succinylcholine, she went into pulseless ventricular tachycardia and fibrillation requiring three cycles of cardiopulmonary resuscitation with high-quality chest compressions, three doses of epinephrine, and a loading dose of amiodarone prior to return of spontaneous circulation. She was further evaluated by cardiology services and was diagnosed with type 2 Brugada syndrome, for which she was started on quinidine. Her respiratory failure and the drugs she received for intubation likely caused her ventricular tachycardia to occur in conjunction with an
Hong, Kui; Berruezo-Sanchez, Antonio; Poungvarin, Naravat; Oliva, Antonio; Vatta, Matteo; Brugada, Josep; Brugada, Pedro; Towbin, Jeffrey A; Dumaine, Robert; Piñero-Galvez, Carlos; Antzelevitch, Charles; Brugada, Ramon
Brugada syndrome is characterized by sudden death secondary to malignant arrhythmias and the presence of ST segment elevation in leads V(1) to V(3) of patients with structurally normal hearts. This ECG pattern often is concealed but can be unmasked using potent sodium channel blockers. Like congenital long QT syndrome type 3 (LQT3) and sudden unexpected death syndrome, Brugada syndrome has been linked to mutations in SCN5A. We screened a large European family with Brugada syndrome. Three members (two female) had suffered malignant ventricular arrhythmias. Ten members showed an ECG pattern characteristic of Brugada syndrome at baseline, and eight showed the pattern only after administration of ajmaline (total 12 female). Haplotype analysis revealed that all individuals with positive ECG at baseline shared the SCN5A locus. Sequencing of SCN5A identified a missense mutation, R367H, previously associated with sudden unexpected death syndrome. Two of the eight individuals who displayed a positive ECG after the administration of ajmaline, but not before, did not have the R367H mutation, and sequencing analysis failed to identify any other mutation in SCN5A. The R367H mutation failed to generate any current when heterologously expressed in HEK cells. Our results support the hypothesis that (1) sudden unexpected death syndrome and Brugada syndrome are the same disease; (2) male predominance of the phenotype observed in sudden unexpected death syndrome does not apply to this family, suggesting that factors other than the specific mutation determine the gender distinction; and (3) ajmaline may provide false-positive results. These findings have broad implications relative to the diagnosis and risk stratification of family members of patients with the Brugada syndrome.
Petitprez, Séverine; Jespersen, Thomas; Pruvot, Etienne
AIMS: Brugada syndrome (BrS) is characterized by arrhythmias leading to sudden cardiac death. BrS is caused, in part, by mutations in the SCN5A gene, which encodes the sodium channel alpha-subunit Na(v)1.5. Here, we aimed to characterize the biophysical properties and consequences of a novel BrS ...
Beaufort-Krol, GCM; van den Berg, MP; Wilde, AAM; van Tintelen, JP; Viersma, JW; Bezzina, CR; Bink-Boelkens, MTE
OBJECTIVES The aim was to investigate at what age electrocardiographic characteristics of long QT syndrome type 3 (LQT3) and Brugada syndrome (BS), based on a single SNC5A mutation, appear. BACKGROUND The QT interval (QT) in LQT3 is prolonged during bradycardia. It is not clear yet if this is
Márquez, Manlio F; Rivera, Jaime; Hermosillo, Antonio G; Iturralde, Pedro; Colín, Luis; Moragrega, José Luis; Cárdenas, Manuel
A 37-year-old man with Brugada syndrome (BrS) and arrhythmic storm is described. One month after implantation of a cardioverter-defibrillator he presented with recurrent appropriate shocks for spontaneous ventricular fibrillation (VF). Because of this arrhythmic storm, quinidine therapy was initiated with total suppression of all spontaneous arrhythmias. He had remained free of arrhythmias for 22 months since quinidine initiation. Two episodes of VF occurred after the patient stopped taking the medication. The patient resumed quinidine and has been free of VF for the last 3 months. This response to quinidine in a patient with symptomatic BrS supports its role in the prophylaxis of arrhythmic events in BrS.
Rhodes, Troy; Weiss, Raul
Vasovagal syncope is the most common cause of the neurally mediated reflex syncopes. A higher susceptibility to vasovagal syncope has been reported in patients with Brugada syndrome (BrS) and may be caused by associated autonomic dysfunction. It is unclear what risk vasovagal syncope confers to patients with BrS. This article reviews the pathophysiology of vasovagal syncope and autonomic dysfunction in patients with BrS and its association with BrS, treatment options for patients with BrS with vasovagal syncope, specific therapies and those that may be harmful in patients with BrS, and potential therapies and monitoring for patients with BrS with vasovagal syncope. Copyright © 2012 Elsevier Inc. All rights reserved.
Fallah Tafti, Mahsasadat; Khatami, Mehri; Rezaei, Shiva; Heidari, Mohammad Mehdi; Hadadzadeh, Mehdi
Brugada syndrome (BrS) is a rare cardiac arrhythmia characterized by sudden death associated with electrocardiogram patterns characterized by incomplete right bundle-branch block and ST-segment elevations in the anterior precordial leads. This syndrome predominantly is seen in younger males with structurally normal hearts. Mitochondrial variants particularly mt-tRNA mutations, are hot spots that lead to cardiological disorders. Previous studies have shown that mutations in mitochondrial tRNA genes play an important causal or modifying role in BrS. The present study aims to evaluate the involvement of mitochondrial tRNA genes in arrhythmogenic BrS. In this study, 40 Iranian patients were investigated for the presence of the mutations in 6 mitochondrial tRNA genes (tRNA Ile, Met, Gln, Asn, Ala and Trp) by PCR-SSCP analysis. There were 4 mutations in tRNA genes, that for first time, were found in Brugada patients and these mutations were not in controls. Three of them were heteroplasmic and located in tRNAGln (T4377A) and tRNAMet (G4407A and C4456T) which were assessed as pathogenic mutations. A homoplasmic variant (5580T > C) in tRNATrp gene was located within the junction region between tRNATrp and tRNAAla genes. This mutation may disturb the processing of mt-tRNATrp. The results of this study suggest that mutations in mitochondrial tRNA genes might lead to deficiencies in translational process of critical proteins of the respiratory chain and potentially lead to BrS in Iranian subjects.
Selga, Elisabet; Sendfeld, Franziska; Martinez-Moreno, Rebecca; Medine, Claire N; Tura-Ceide, Olga; Wilmut, Sir Ian; Pérez, Guillermo J; Scornik, Fabiana S; Brugada, Ramon; Mills, Nicholas L
Brugada syndrome predisposes to sudden death due to disruption of normal cardiac ion channel function, yet our understanding of the underlying cellular mechanisms is incomplete. Commonly used heterologous expression models lack many characteristics of native cardiomyocytes and, in particular, the individual genetic background of a patient. Patient-specific induced pluripotent stem (iPS) cell-derived cardiomyocytes (iPS-CM) may uncover cellular phenotypical characteristics not observed in heterologous models. Our objective was to determine the properties of the sodium current in iPS-CM with a mutation in SCN5A associated with Brugada syndrome. Dermal fibroblasts from a Brugada syndrome patient with a mutation in SCN5A (c.1100G>A, leading to Nav1.5_p.R367H) were reprogrammed to iPS cells. Clones were characterized and differentiated to form beating clusters and sheets. Patient and control iPS-CM were structurally indistinguishable. Sodium current properties of patient and control iPS-CM were compared. These results were contrasted with those obtained in tsA201 cells heterologously expressing sodium channels with the same mutation. Patient-derived iPS-CM showed a 33.1-45.5% reduction in INa density, a shift in both activation and inactivation voltage-dependence curves, and faster recovery from inactivation. Co-expression of wild-type and mutant channels in tsA201 cells did not compromise channel trafficking to the membrane, but resulted in a reduction of 49.8% in sodium current density without affecting any other parameters. Cardiomyocytes derived from iPS cells from a Brugada syndrome patient with a mutation in SCN5A recapitulate the loss of function of sodium channel current associated with this syndrome; including pro-arrhythmic changes in channel function not detected using conventional heterologous expression systems. Copyright © 2017. Published by Elsevier Ltd.
Batchvarov V. N.
Full Text Available In order to compare the value of different leads and lead combinations to detect the signature Brugada type ECG pattern, we analysed digital 10-second, 15-lead ECGs (12 standard leads + leads V1 to V3 from 3rd intercostal (i.c. space, V1h to V3h acquired during diagnostic Ajmaline testing in 128 patients (80 men, age 37±15 years with suspected Brugada syndrome (BS (patient group, 15-lead resting ECGs of 108 healthy subjects (53 men, age 31.9±10.5 years (control group A and standard 12-lead resting ECGs of 229 healthy subjects (111 men, age 33±4 years (control group B. Bipolar leads between V2 (positive pole and V4 or V5 (leads V2-4V2-5 were derived by subtracting leads V4 and V5 from V2 (custom-made program. The 6 peripheral, 6 right precordial leads (V1 to V3, V1h to V3h and leads V2-4 and V2-5 of the patients group, leads V1h to V3h of control group A, and leads V2-4 and V2-5 of control group B were analysed for the presence of type 1 Brugada pattern. There were 21 (16.4% positive and 107 (83.6% negative Ajmaline tests. In 7 positive tests (33%, type 1 pattern appeared only in leads V1h to V3h, whereas in 14 tests 67% it appeared in both V1 to V3 and V1h to V3h. Lead V2 displayed type 1 pattern during 10 positive tests; in all of them, plus 10 other positive tests type 1 was also noted in lead V2h (n=20, 95.2%. In all 10 cases, in which lead V2 exhibited type 1 pattern (n=10, lead V2-4 and/or V2-5 also exhibited type 1-like pattern. During 7 positive tests, in which lead V2h but not V2 exhibited type 1 pattern, lead V2-4 and/or V2-5 also demonstrated type 1 pattern. Type 1 pattern was observed in leads V3 and V3h during 1 (5% and 5 (24% positive tests, in 0 ECGs (0% in control group A and in 1 ECG (0.4% in control group B. In conclusion, the "high" V1 and V2 leads (3rd i.c. space detect more sensitively Brugada type 1 pattern than the standard V1 and V2 leads (4th i.c. space; leads V3 and V3h are not essential for the diagnosis of BS
Frans van Hoorn
Full Text Available BACKGROUND: The cardiac sodium channel (Na(v1.5 controls cardiac excitability. Accordingly, SCN5A mutations that result in loss-of-function of Na(v1.5 are associated with various inherited arrhythmia syndromes that revolve around reduced cardiac excitability, most notably Brugada syndrome (BrS. Experimental studies have indicated that Na(v1.5 interacts with the cytoskeleton and may also be involved in maintaining structural integrity of the heart. We aimed to determine whether clinical evidence may be obtained that Na(v1.5 is involved in maintaining cardiac structural integrity. METHODS: Using cardiac magnetic resonance (CMR imaging, we compared right ventricular (RV and left ventricular (LV dimensions and ejection fractions between 40 BrS patients with SCN5A mutations (SCN5a-mut-positive and 98 BrS patients without SCN5A mutations (SCN5a-mut-negative. We also studied 18 age/sex-matched healthy volunteers. RESULTS: SCN5a-mut-positive patients had significantly larger end-diastolic and end-systolic RV and LV volumes, and lower LV ejection fractions, than SCN5a-mut-negative patients or volunteers. CONCLUSIONS: Loss-of-function SCN5A mutations are associated with dilatation and impairment in contractile function of both ventricles that can be detected by CMR analysis.
van Hoorn, Frans; Campian, Maria E; Spijkerboer, Anje; Blom, Marieke T; Planken, R Nils; van Rossum, Albert C; de Bakker, Jacques M T; Wilde, Arthur A M; Groenink, Maarten; Tan, Hanno L
The cardiac sodium channel (Na(v)1.5) controls cardiac excitability. Accordingly, SCN5A mutations that result in loss-of-function of Na(v)1.5 are associated with various inherited arrhythmia syndromes that revolve around reduced cardiac excitability, most notably Brugada syndrome (BrS). Experimental studies have indicated that Na(v)1.5 interacts with the cytoskeleton and may also be involved in maintaining structural integrity of the heart. We aimed to determine whether clinical evidence may be obtained that Na(v)1.5 is involved in maintaining cardiac structural integrity. Using cardiac magnetic resonance (CMR) imaging, we compared right ventricular (RV) and left ventricular (LV) dimensions and ejection fractions between 40 BrS patients with SCN5A mutations (SCN5a-mut-positive) and 98 BrS patients without SCN5A mutations (SCN5a-mut-negative). We also studied 18 age/sex-matched healthy volunteers. SCN5a-mut-positive patients had significantly larger end-diastolic and end-systolic RV and LV volumes, and lower LV ejection fractions, than SCN5a-mut-negative patients or volunteers. Loss-of-function SCN5A mutations are associated with dilatation and impairment in contractile function of both ventricles that can be detected by CMR analysis.
Wada, Tadashi; Nagase, Satoshi; Morita, Hiroshi; Nakagawa, Koji; Nishii, Nobuhiro; Nakamura, Kazufumi; Kohno, Kunihisa; Ito, Hiroshi; Kusano, Kengo F; Ohe, Tohru
Brugada syndrome (BrS)-type electrocardiogram (ECG) is concealed by complete right bundle-branch block (CRBBB) in some cases of BrS. Clinical significance of BrS masked by CRBBB is not well known. We reviewed an ECG database of 326 BrS patients who had type 1 ECG with or without pilsicainide. "BrS masked by CRBBB" was defined on ECG as elevation of the J point at the time of CRBBB in the right precordial leads, and BrS-type J-point elevation ≥2 mm at the time of normalized QRS complex on relieved CRBBB. We identified 25 BrS patients (7.7%) with persistent (n=12) or intermittent CRBBB (n=13). Relief of CRBBB by pacing was performed in patients with persistent CRBBB. The prevalence of BrS masked by CRBBB was 3.1% (10/326 patients). Three patients had type 1 ECG, and 7 patients had type 2 or 3 ECG on relief of CRBBB. Two of these 10 patients had lethal arrhythmic events during the follow-up period (mean, 86.4±57.2 months). There was no prognostic difference between BrS masked by CRBBB and other BrS. In a small BrS population, CRBBB can completely mask typical BrS-type ECG. BrS masked by CRBBB is associated with the same risk of fatal ventricular tachyarrhythmia as other BrS.
Shohei Kataoka, MD
Full Text Available Overlapping characteristics of Brugada syndrome (BrS and arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D have been reported in recent studies, but little is known about the overlapping disease state of BrS and ARVC/D. A 36-year-old man, hospitalized at our institution for syncope, presented with this overlapping disease state. The electrocardiogram showed spontaneous coved-type ST-segment elevation, and ventricular fibrillation was induced by right ventricular outflow tract stimulation in an electrophysiological study. BrS was subsequently diagnosed; additionally, the presence of epsilon-like waves and right ventricular structural abnormalities met with the 2010 revised task force criteria for ARVC/D. After careful investigation for both BrS and ARVC/D, an implantable cardioverter defibrillator was inserted in the patient. This case revealed 2 important clinical findings: (1 BrS and ARVC/D clinical features can coexist in a single patient, and EPS might be useful for determining the phenotype of overlapping disease (e.g., BrS-like or ARVC/D-like. (2 An overlapping disease state of BrS and ARVC/D can change phenotypically during its clinical course. Therefore, careful examination and attentive follow-up are required for patients with BrS or ARVC/D.
Mascia, Giuseppe; Arbelo, Elena; Ojeda, Jaime Hernández; Solimene, Francesco; Brugada, Ramon; Brugada, Josep
Since its recognition as a clinical entity in 1992, the Brugada Syndrome (BrS), a hereditary disease characterized by a typical electrocardiogram (ECG) pattern potentially predisposing to sudden cardiac death (SCD), has attracted the attention of many physicians for its circadian pattern of ventricular arrhythmias (VA), mostly occurring at rest. Exercise may potentially worsen the ECG abnormalities in BrS patients, resulting in higher peak J-point amplitudes during the vasovagal reaction of the recovery period, possibly leading to an increased risk of cardiac events. Moreover, the enhanced vagal tone in athletes could be both a BrS risk factor and an exercise effect. Therefore, the true risk of a BrS patient during exercise is still unclear. This review summarizes current knowledge, shortcomings and open questions on BrS and exercise. The paper, in particular, underlines specific considerations including BrS diagnostic criteria and differential diagnosis in athletes, the genetic basis, the autonomic imbalance during exercise practice and the recommendations for athletic participation in this patient group. © Georg Thieme Verlag KG Stuttgart · New York.
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.
Belhassen, Bernard; Rahkovich, Michael; Michowitz, Yoav; Glick, Aharon; Viskin, Sami
Information on long-term clinical outcome of patients with Brugada syndrome treated with electrophysiologically guided class 1A antiarrhythmic drugs (AAD) is limited. An aggressive protocol of programmed ventricular stimulation was performed in 96 patients with Brugada syndrome (88% males; mean age, 39.8±15.9 years). Ten patients were cardiac arrest survivors, 27 had presented with syncope, and 59 were asymptomatic. Ventricular fibrillation was induced in 66 patients, including 100%, 74%, and 61% of patients with cardiac arrest, syncope, and no symptoms, respectively. All but 6 of the 66 patients with inducible ventricular fibrillation underwent electrophysiological testing on quinidine (n=54), disopyramide (n=2), or both (n=4). Fifty-four (90%) patients were electrophysiological responders to >1 AAD with similar efficacy rates (≈90%) in all patients groups. Patients with no inducible ventricular fibrillation at baseline were left on no therapy. After a mean follow-up of 113.3±71.5 months, 92 patients were alive, whereas 4 died from noncardiac causes. No arrhythmic event occurred during class 1A AAD therapy in any of electrophysiological drug responders and in patients with no baseline inducible ventricular fibrillation. Arrhythmic events occurred in only 2 cardiac arrest survivors treated with implantable cardioverter-defibrillator alone but did not recur on quinidine. All cases of recurrent syncope (n=12) were attributed to a vasovagal (n=10) or nonarrhythmic mechanism (n=2). Class 1A AAD therapy resulted in 38% incidence of side effects that resolved after drug discontinuation. Our data suggest that electrophysiologically guided class 1A AAD treatment has a place in our therapeutic armamentarium for all types of patients with Brugada syndrome. © 2015 American Heart Association, Inc.
Probst, Vincent; Plassard-Kerdoncuf, Delphine; Mansourati, Jacques; Mabo, Philippe; Sacher, Frédéric; Fruchet, Christine; Babuty, Dominique; Lande, Gilles; Guyomarc'h, Béatrice; Le Marec, Hervé
Brugada syndrome (BrS) is a hereditary arrhythmic disease, responsible for sudden death in patients without known heart disease. An implantable cardioverter defibrillator (ICD) is recommended in patients at high risk of sudden death, but the resulting psychological impact has never been studied. The aim of our study was to assess the impact on quality of life of BrS and ICD implantation. Patients were selected from the reference centre for hereditary arrhythmic disease database in Nantes. This population was divided into three groups: Group 1 (G1), symptomatic implanted patients; Group 2 (G2), asymptomatic implanted patients; and Group 3 (G3), asymptomatic patients without ICD. One hundred and ninety questionnaires [36-item short-form health survey (SF-36) and subsidiary questions] were analysed (60 in G1, 78 in G2, and 52 in G3). We failed to identify any difference in the evaluation of the SF-36 between the three groups and the SF-36 score was similar to the French population score. However, specific questions regarding tolerance of the ICD showed that ICD implantation resulted in significant negative impact, especially for professional careers and purchasing insurance, even though the patient considered ICD implantation as reassuring. Whatever the group, BrS patients have a good quality of life with no difference between implanted and non-implanted patients. However, ICD implantation is accompanied by difficulties in their social and professional life. This work emphasizes the need to propose specific recommendations applicable to insurance to reduce the complications experienced by these patients.
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.
Kubala, Maciej; Aïssou, Linda; Traullé, Sarah; Gugenheim, Anne-Lise; Hermida, Jean-Sylvain
Implantable cardioverter defibrillator (ICD) therapy is recommended in patients with Brugada syndrome (BS) who experienced aborted sudden cardiac death (SCD) or syncope while the risk stratification of ventricular arrhythmias is a difficult step in patients with atypical symptoms. Implantable loop recorder (ILR) use has been proposed to study patients with unexplained recurrent syncopal events, but its usefulness remains to be defined in patients with BS. In this retrospective study we aimed to investigate the effectiveness of ILR as a diagnostic tool in BS patients suspected of low or moderate risk of SCD. We gathered data from 11 ILR recipients with supposed risk of ventricular arrhythmia, issue of Amiens registry of 204 patients with BS. We reported clinical events before and after implant, electrocardiogram (ECG) characteristics, ILR findings, and its limitations as well as tried to specify ILR utility in diagnosis approach and its consequent contribution to guide the optimal therapy. Within the 11 patients (8 men, 3 women), 9 were symptomatic, and 5 had a spontaneous Type 1 ECG pattern. During mean follow-up period of 33 months, 8 patients had a recurrence of symptoms with a mean delay of 9 months after implant. Bradycardia (two atrioventricular blocks and two sinus bradycardia) was detected in four out of eight patients (50%), and there was no ventricular arrhythmia in any patient during symptomatic events which included six vasovagal syncopes and two epileptic seizures. Two initially asymptomatic patients did not experience any symptoms after ILR implant and their ILR recordings did not reveal any arrhythmias. The ILR contributed to the exclusion of a ventricular arrhythmia as a mechanism of an atypical syncope in patients with electrocardiographic BS and the suspension of the ICD implant. Episodes of transient symptomatic bradycardia were the most common findings suggesting the vagal mechanism of symptoms. The use of ILR should be considered in selected
Therasse, Dylan; Sacher, Frederic; Babuty, Dominique; Mabo, Philippe; Mansourati, Jacques; Kyndt, Florence; Redon, Richard; Schott, Jean Jacques; Barc, Julien; Probst, Vincent; Gourraud, Jean-Baptiste
Intravenous drug challenge is frequently performed to unmask Brugada syndrome (BrS). However, its true sensitivity has never been assessed. We used the obligate BrS transmitters in families affected by BrS to evaluate the true accuracy of drug challenge. All consecutive patients from 2000 to 2014 who underwent drug challenge during familial screening for BrS were included in the study. Obligate BrS transmitters were defined as the presence of a descendant and non-descendant first-degree relative affected by BrS. Two physicians blinded to the clinical and genetic status reviewed the data. Among 705 drug challenges performed in 149 families, 50 were performed in obligate transmitters from 42 different families. SCN5A mutations were identified in 20 families. Two obligate transmitters were not carrier of the familial mutation. Based on obligate transmitters, sensitivity was 100% for Ajmaline vs 77% for Flecainide (P=0.002). Based on the presence of the familial SCN5A mutation in all family relatives, sensitivity and specificity of sodium channel blocker challenge were respectively 78% (95/122) and 46% (68/148). During a median follow-up of 91 (26-136) months, 2 ventricular fibrillations occurred in obligate transmitters. We demonstrated that Ajmaline challenge presents an excellent sensitivity that may rule out the diagnosis of BrS when negative. Conversely, a negative Flecainide challenge may not prevent from Brs inheritance and risk of SCD. This may lead to suggest systematic use of Ajmaline during drug challenge. Copyright © 2017 Elsevier B.V. All rights reserved.
Ghouse, Jonas; Have, Christian T; Skov, Morten W
PURPOSE: We investigated whether Brugada syndrome (BrS)-associated variants identified in the general population have an effect on J-point elevation as well as whether carriers of BrS variants were more prone to experience syncope and malignant ventricular arrhythmia and had increased mortality c...
Callø, Kirstine; Refaat, Marwan M.; Grubb, Søren
Brugada syndrome is a heterogeneous heart rhythm disorder characterized by an atypical right bundle block pattern with ST-segment elevation and T-wave inversion in the right precordial leads. Loss-of-function mutations in SCN5A encoding the cardiac sodium channel Na(V)1.5 are associated with Brug...
Verkerk, Arie O.; Wilders, Ronald; Schulze-Bahr, Eric; Beekman, Leander; Bhuiyan, Zahurul A.; Bertrand, Jessica; Eckardt, Lars; Lin, Dongxin; Borggrefe, Martin; Breithardt, Günter; Mannens, Marcel M. A. M.; Tan, Hanno L.; Wilde, Arthur A. M.; Bezzina, Connie R.
Background: Brugada syndrome (BrS) is an inherited electrical disorder associated with a high incidence of sudden death. In a minority of patients, it has been linked to mutations in SCN5A, the gene encoding the pore-forming alpha-subunit of the cardiac Na+ channel. Other causally related genes
Yuan, Lei; Koivumaki, Jussi; Liang, Bo
Brugada Syndrome (BrS) is a rare inherited disease which can give rise to ventricular arrhythmia and ultimately sudden cardiac death. Numerous loss-of-function mutations in the cardiac sodium channel Nav1.5 have been associated with BrS. However, few mutations in the auxiliary Navβ1-4 subunits ha...
Bajaj, Sharad; Costeas, Constantinos; Shamoon, Fayez
Brugada syndrome predisposes individuals to ventricular arrhythmias and sudden cardiac death, in the absence of structural heart disease. The typical Brugada electrocardiogram (ECG) phenotype is often concealed in affected population, and the existing genetic testing is capable of detecting just about 20% of cases. Therefore, the diagnosis largely requires various pharmacological provocative agents like class I antiarrhythmic drugs to unmask the unique features of Brugada ECG phenotype. We report an unusual case of "unmasking" of Brugada ECG pattern with ventricular tachycardia brought out by amiodarone infusion.
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
Ozyilmaz, Isa; Akyol, Bedir; Ergul, Yakup
Patients who are diagnosed with Brugada syndrome (BS) usually experience sudden cardiac arrest (SCA) and arrhythmia when they have a high fever, consume alcohol, and, more frequently, during their night sleep. In some rare cases, an SCA can be seen depending on a possible vagal stimulus, such as eating a large bite of food. We describe a 9-year-old patient who had a sudden cardiac attack while he was eating a large hot dog. After successful resuscitation, a suspicious ST elevation in V2 was seen in his electrocardiographic evaluation. He was diagnosed with BS after the ajmaline test and an implantable cardioverter defibrillator was implanted. Vagal stimulus-dependent SCA after eating a large bite of food may be the first symptom of BS. For this reason, the electrocardiographic results of the children who had a cardiac arrest after eating a large meal with big bites should be evaluated in detail. Copyright © 2017 by the American Academy of Pediatrics.
Carlos J Jaramillo
Full Text Available El síndrome de Brugada es una enfermedad autosómica dominante esporádica que afecta los canales de sodio de los miocardiocitos. Clínicamente se caracteriza por síncopes recurrentes y/o muerte súbita, que en el electrocardiograma simula un bloqueo de rama derecha, acompañado de elevación peculiar del segmento ST en las derivaciones precordiales derechas (V1, V2 y V3 sin alteración cardiaca estructural. Afecta principalmente a hombres en la cuarta década de la vida y tiene mayor prevalencia en el suroeste asiático. El caso que se describe corresponde a un paciente con antecedentes personales de síncopes, a quien se le encuentra un patrón electrocardiográfico tipo-2 de Brugada y quien además tiene un hermano con historia de síncopes. Con una prueba de mesa basculantes positivo para síncope mediado neuralmente se deja este diagnóstico, pero no se descarta la sospecha inicial de síndrome de Brugada.Brugada syndrome is a sporadic autosomal dominant genetic disease that affects cardiac sodium channels. It is clinically characterized by recurrent syncope and/or sudden death with electrocardiographic manifestations that simulate a right bundle branch block accompanied by ST-segment elevation in the right precordial leads (V1, V2 and V3 without structural cardiac changes. It mainly affects men in their fourth decade and is most prevalent in southwestern Asia. We present the case of a patient with history of syncope, type-2 Brugada electrocardiographic pattern and who has a brother also with history of syncope. The patient had a positive tilt test for neurocardiogenic syncope. He was diagnosed as neurocardiogenic syndrome, without discarding the initial suspicion of Brugada syndrome.
Huang, Lei; Wu, Kuo-Ho; Zhang, Liyong; Wang, Qinchuan; Tang, Shuangbo; Wu, Qiuping; Jiang, Pei-Hsiu; Lin, Jim Jung-Ching; Guo, Jian; Wang, Lin; Loh, Shih-Hurng; Cheng, Jianding
Sudden unexplained nocturnal death syndrome (SUNDS) remains an autopsy negative entity with unclear etiology. Arrhythmia has been implicated in SUNDS. Mutations/deficiencies in intercalated disc components have been shown to cause arrhythmias. Human cardiomyopathy-associated 1 (XIRP1) and 3 (XIRP2) are intercalated disc-associated, Xin repeats-containing proteins. Mouse Xirp1 is necessary for the integrity of intercalated disc and for the surface expression of transient outward and delayed rectifier K+ channels, whereas mouse Xirp2 is required for Xirp1 intercalated disc localization. Thus, XIRP1 and XIRP2 may be potentially causal genes for SUNDS. We genetically screened XIRP genes in 134 sporadic SUNDS victims and 22 Brugada syndrome (BrS) cases in a Chinese Han population. We identified 16 rare variants (6 were in silico predicted as deleterious) in SUNDS victims, including a novel variant, XIRP2-E215K. There were also four rare variants (2 were in silico predicted as deleterious) detected in BrS cases, including a novel variant, XIRP2-L2718P. Interestingly, among these 20 variants, we detected 2 likely pathogenic variants: a nonsense variant (XIRP2-Q2875*) and a frameshift variant (XIRP2-T2238QfsX7). Analyzing available Xirp2 knockout mice, we further found that mouse hearts without Xirp2 exhibited prolonged PR and QT intervals, slow conduction velocity, atrioventricular conduction block, and an abnormal infranodal ventricular conduction system. Whole-cell patch-clamp detected altered ionic currents in Xirp2-/- cardiomyocytes, consistent with the observed association between Xirp2 and Nav1.5/Kv1.5 in co-immunoprecipitation. This is the first report identifying likely pathogenic XIRP rare variants in arrhythmogenic disorders such as SUNDS and Brugada syndrome, and showing critical roles of Xirp2 in cardiac conduction. © 2018 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley.
Olesen, Morten S; Holst, Anders G; Haunsø, Stig
BACKGROUND: SCN1Bb encodes the ß-subunit of the sodium channel. A mutation in SCN1Bb R214Q has recently been shown both to increase the Kv4.3 current and to decrease the sodium current. The variant was suggested to increase the susceptibility to Brugada syndrome (BrS). OBJECTIVE: To sequence...... a population of BrS and early-onset lone atrial fibrillation (AF) patients for the R214Q mutation in the SCN1Bb gene. METHODS: The coding sequence and splice junctions of SCN1Bb were bidirectionally sequenced by using Big Dye chemistry in 192 early-onset lone AF patients and 22 BrS patients. RESULTS: Three......) and has not previously been reported in conjunction to AF. CONCLUSION: Three patients of 192 young lone AF and 22 BrS patients carried the nonsynonymous R214Q mutations in SCN1Bb, thereby indicating that this variant increases the susceptibility to both BrS and AF....
Ahmed Karim Talib, MD, PhD
Full Text Available Placement of an implantable cardioverter–defibrillator (ICD is the only powerful treatment modality for Brugada syndrome in patients presenting with ventricular fibrillation (VF. For those whose first presentation is an electrical storm, pharmacologic therapy is typically used to control VF followed by ICD implantation. We report an alternative approach whereby, before ICD implantation, emergency catheter ablation of the VF-triggering premature ventricular contraction (PVC resulted in long-term VF-free survival. The results suggest that, because VF triggers appear in a narrow time window, ablation of the culprit PVCs that initiate VF before the index PVCs subside is a reasonable alternative approach.
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.
Monteban-Kooistra, W; van den Berg, M; Tulleken, J; Ligtenberg, J; Zijlstra, J; Meertens, J.
Objective:The Brugada syndrome is a clinical and electrocardiographic familial entity, which may lead to sudden cardiac death. A Brugada pattern ECG may occasionally be caused by conditions such as an overdose of tricyclic antidepressants (TCA). Toxicity of TCA frequently results in the need for
Shahrzad, Shahab; Khoramshahi, Maryam; Aslani, Amir; Fazelifar, Amir Farjam; Haghjoo, Majid
Sodium channel blockers are used to unmask the diagnostic ECG pattern of the Brugada syndrome (BrS) in case of a non-diagnostic baseline ECG. The aim of the study was to determine clinical and ECG predictors of a positive challenge test in patients suspected to the BrS. A total of 106 consecutive patients (91 men; mean age, 35 ± 12 years) suspected of the BrS underwent the intravenous sodium channel blocker challenge test with procainamide or flecainide. Of the 106 patients, positive tests were detected in 20 (19%) patients. During test, a transient episode of a second-degree atrioventricular block and isolated ventricular ectopies were observed in 1 (0.9%) and 2 (1.9%) patients, respectively. A QRS prolongation ≥ 30% was observed in 4 (3.8%) patients. Baseline QRS duration in V1 ≥ 110 ms had a sensitivity of 70% and a specificity of 80% for a positive response. An ST-segment elevation ≥ 0.17 mV in V2 had a sensitivity of 60% and a specificity of 82% for a positive response. Of the multiple clinical and ECG variables entered into a binary logistic regression analysis, a history of syncope (P=0.001), previous cardiac arrest (P=0.001), baseline QRS duration in V1 ≥ 110 ms (P=0.001), and baseline ST-segment elevation in V2 ≥ 0.17 mV (P=0.012) emerged as the independent predictors of a positive response to the intravenous challenge with sodium channel blockers. The results of the sodium channel blocker challenge test can be predicted by clinical presentation and baseline ECG features. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.
Kawabata, Mihoko; Goya, Masahiko; Sasaki, Takeshi; Maeda, Shingo; Yagishita, Atsuhiko; Shirai, Yasuhiro; Kaneko, Masakazu; Shiohira, Shinya; Isobe, Mitsuaki; Hirao, Kenzo
Subcutaneous implantable cardioverter-defibrillators (S-ICD) could eliminate lead-associated complications. We assessed the prevalence of S-ICD ineligibility in conventional ICD recipients and compared it in patients with and without Brugada syndrome (BrS).Methods and Results:Consecutive patients with a transvenous ICD without an indication for antibradycardia pacing were assessed. A patient was considered eligible for S-ICD if the ECG satisfied the screening template, both supine and standing, in ≥1 lead. Among 130 patients (103 men, age 57±15 years), a total of 18 (13.8%) patients were ineligible. The BrS group (n=33) had a significantly higher prevalence of S-ICD screening failure as compared with the non-BrS group (P=0.003; 30% vs. 8.2%). In the BrS group, the body mass index (BMI) was significantly lower, and T/QRS amplitude in lead I was significantly higher in those who were ineligible than that in the patients who were eligible. Of the 10 BrS patients failing the screening, 4 became eligible in the right parasternal electrode position. Among current ICD patients, there was a high incidence of patients with BrS who were unsuitable for S-ICD based on the left parasternal screening test. Suitability screening of patients for S-ICDs should be conducted carefully in patients with BrS, particularly if the BMI is low. Right parasternal electrode positioning should also be tested in such BrS patients.
Letsas, Konstantinos P; Efremidis, Michael; Vlachos, Konstantinos; Georgopoulos, Stamatis; Karamichalakis, Nikolaos; Asvestas, Dimitrios; Valkanas, Kosmas; Korantzopoulos, Panagiotis; Liu, Tong; Sideris, Antonios
Epicardial structural abnormalities at the right ventricular outflow tract (RVOT) may provide the arrhythmia substrate in Brugada syndrome (BrS). Electroanatomical endocardial unipolar voltage mapping is an emerging tool that accurately identifies epicardial abnormalities in different clinical settings. This study investigated whether endocardial unipolar voltage mapping of the RVOT detects electroanatomical abnormalities in patients with BrS. Ten asymptomatic patients (8 males, 34.5 ± 11.2 years) with spontaneous type 1 ECG pattern of BrS and negative late gadolinium enhancement-cardiac magnetic resonance imaging (LGE-c-MRI) underwent high-density endocardial electroanatomical mapping (>800 points). Using a cut-off of 1 mV and 4 mV for normal bipolar and unipolar voltage, respectively, derived from 20 control patients without structural heart disease established by LGE-c-MRI, the extend of low-voltage areas within the RVOT was estimated using a specific calculation software. The mean RVOT area presenting low-voltage bipolar signals in BrS patients was 3.4 ± 1.7 cm2 (range 1.5-7 cm2). A significantly greater area of abnormal unipolar signals was identified (12.6 ± 4.6 cm2 [range 7-22 cm2], P: 0.001). Both bipolar and unipolar electroanatomical abnormalities were mainly located at the free wall of the RVOT. The mean RVOT activation time was significantly prolonged in BrS patients compared to control population (86.4 ± 16.5 vs. 63.4 ± 9.7 ms, P voltage abnormalities that possibly reflect epicardial structural abnormalities are identified at the RVOT of BrS patients.
Full Text Available Coved-type ST-segment elevation in the right precordial leads are the characteristics of Brugada syndrome, an inherited arrhythmogenic ion channel disease, which could lead to ventricular arrhythmia and sudden death. Hypokalemia alone may induce Type 1 Brugada pattern electrocardiogram (EKG, and the association has rarely been reported. We describe a patient with hypokalemia 2.9 mmol/L and the appearance of new right bundle branch block pattern with coved ST-segment elevations with inverted T wave in leads V1-V2. Serum potassium was corrected and repeated EKG 6 h later revealed disappearance of Type 1 Brugada pattern. Although there is no definite value of serum potassium level that can induce Brugada pattern EKG, hypokalemia may unmask Type 1 Brugada EKG pattern. Awareness of its appearance should be made by all physicians since patients with a family history of arrhythmia or sudden cardiac death (SCD are at the high risk of developing SCD.
Ragab, Ahmed A Y; Houck, Charlotte A; van der Does, Lisette J M E; Lanters, Eva A H; Burghouwt, Danielle E; Muskens, Agnes J Q M; de Groot, Natasja M S
Brugada syndrome (BrS) is an autosomal dominant channelopathy which is responsible for a large number of sudden cardiac deaths in young subjects without structural abnormalities. The most challenging step in management of patients with BrS is identifying who is at risk for developing malignant ventricular tachyarrhythmia (VTA). In patients with BrS, conduction delay in the right ventricular outflow tract (RVOT) causes a prominent R wave in lead aVR. This electrocardiographic parameter can be useful to detect these high-risk patients. The goal of this study was to test the significance of R-wave elevation in lead aVR as a predictor for VTA in patients with BrS. In this retrospective study, we included 132 patients with BrS (47 ± 15 years, 65% men) who visited the outpatient clinic for cardiogenetic screening. Patients' medical records were examined for the presence of a positive R-wave sign in lead aVR and VTA. A positive R-wave sign in lead aVR was observed in 41 patients (31%). This sign was more frequently observed in patients who experienced VTA (n = 24) before the initial diagnosis, during electrophysiological studies, or during follow-up (p sign occurred more frequently in symptomatic patients with a history of an out of hospital cardiac arrest, VTA, or syncope than asymptomatic patients (60% vs 26%; p = 0.002). During the follow-up period, this sign was more frequently detected in patients who developed either de novo (50%) or recurrent VTA (80%) (p = 0.017). Multivariable regression analysis showed that R-wave sign is an independent predictor for VTA development (odds ratio 4.8, 95% confidence interval 1.79 to 13.27). The presence of a positive R-wave sign in lead aVR is associated with the development of VTA. In conclusion, positive R-wave sign in lead aVR can be used to identify patients with BrS at risk for malignant VTA. Copyright © 2017 Elsevier Inc. All rights reserved.
Nagase, Satoshi; Tanaka, Masamichi; Morita, Hiroshi; Nakagawa, Koji; Wada, Tadashi; Murakami, Masato; Nishii, Nobuhiro; Nakamura, Kazufumi; Ito, Hiroshi; Ohe, Tohru; Kusano, Kengo F
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
Rollin, A; Sacher, F; Gourraud, J B; Pasquié, J L; Raczka, F; Duparc, A; Mondoly, P; Cardin, C; Delay, M; Chatel, S; Derval, N; Denis, A; Sadron, M; Davy, J M; Hocini, M; Jaïs, P; Jesel, L; Haïssaguerre, M; Probst, V; Maury, P
Despite isolated reports of Brugada syndrome (BrS) in the inferior or lateral leads, the prevalence and prognostic value of ST elevation in the peripheral electrocardiographic (ECG) leads in patients with BrS remain poorly known. To study the prevalence, characteristics, and prognostic value of type 1 ST elevation and ST depression in the peripheral ECG leads in a large cohort of patients with BrS. ECGs from 323 patients with BrS (age 47 ± 13 years; 257 men) with spontaneous (n = 141) or drug-induced (n = 182) type 1 ECG were retrospectively reviewed. Two hundred twenty-five (70%) patients were asymptomatic, 72 (22%) patients presented with unexplained syncope, and 26 (8%) patients presented with sudden death (12 patients) or appropriated implantable cardioverter-defibrillator therapies (14 patients) at diagnosis or over a mean follow-up of 48 ± 34 months. Thirty (9%) patients presented with type 1 ST elevation in at least 1 peripheral lead (22 patients in the aVR leads, 2 in the inferior leads, 5 in both aVR and inferior leads, and 1 in the aVR and VL leads). Patients with type 1 ST elevation in the peripheral leads more often had mutations in the SCN5A gene, were more often inducible, had slower heart rate, and higher J-wave amplitude in the right precordial leads. Twenty-seven percent (8 of 30) of the patients with type 1 ST elevation in the peripheral leads experimented sudden death/appropriate implantable cardioverter-defibrillator therapy, whereas it occurred in only 6% (18 of 293) of other patients (P leads was independently associated with malignant arrhythmic events (odds ratio 4.58; 95% confidence interval 1.7-12.32; P = .0025). Type 1 ST elevation in the peripheral ECG leads can be seen in 10% of the patients with BrS and is an independent predictor for a malignant arrhythmic event. Copyright © 2013 Heart Rhythm Society. Published by Elsevier Inc. All rights reserved.
Full Text Available ST-segment elevation in Brugada syndrome is caused by a shift in the ionic current balance and the creation of a voltage gradient between the epicardium and the endocardium. This ionic mechanism have been shown to be temperature dependent. We describe a 33-year-old man who presented with fever with the dynamic electrocardiographic changes similar to the Brugada syndrome. These electrocardiographic anomalies disappeared when the temperature returned to normal.
Ammundsen, Henriette Berg; Ekelund, Kim; Afshari, Arash
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...
Behr, Elijah R; Savio-Galimberti, Eleonora; Barc, Julien; Holst, Anders G; Petropoulou, Evmorfia; Prins, Bram P; Jabbari, Javad; Torchio, Margherita; Berthet, Myriam; Mizusawa, Yuka; Yang, Tao; Nannenberg, Eline A; Dagradi, Federica; Weeke, Peter; Bastiaenan, Rachel; Ackerman, Michael J; Haunso, Stig; Leenhardt, Antoine; Kääb, Stefan; Probst, Vincent; Redon, Richard; Sharma, Sanjay; Wilde, Arthur; Tfelt-Hansen, Jacob; Schwartz, Peter; Roden, Dan M; Bezzina, Connie R; Olesen, Morten; Darbar, Dawood; Guicheney, Pascale; Crotti, Lia; Jamshidi, Yalda
Brugada syndrome (BrS) remains genetically heterogeneous and is associated with slowed cardiac conduction. We aimed to identify genetic variation in BrS cases at loci associated with QRS duration. A multi-centre study sequenced seven candidate genes (SCN10A, HAND1, PLN, CASQ2, TKT, TBX3, and TBX5) in 156 Caucasian SCN5A mutation-negative BrS patients (80% male; mean age 48) with symptoms (64%) and/or a family history of sudden death (47%) or BrS (18%). Forty-nine variants were identified: 18 were rare (MAF segregation analysis was possible for four of seven probands carrying a novel pathogenic variant. Only one pedigree (I671V/G1299A in SCN10A) showed co-segregation. The SCN10A SNP V1073 was, however, associated strongly with BrS [66.9 vs. 40.1% (UK10K) OR (95% CI) = 3.02 (2.35-3.87), P = 8.07 × 10-19]. Voltage-clamp experiments for NaV1.8 were performed for SCN10A common variants V1073, A1073, and rare variants of interest: A200V and I671V. V1073, A200V and I671V, demonstrated significant reductions in peak INa compared with ancestral allele A1073 (rs6795970). Rare variants in the screened QRS-associated genes (including SCN10A) are not responsible for a significant proportion of SCN5A mutation negative BrS. The common SNP SCN10A V1073 was strongly associated with BrS and demonstrated loss of NaV1.8 function, as did rare variants in isolated patients. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2015. For permissions please email: email@example.com.
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.
Asil, Serkan; Canpolat, Uğur; Kaya, Ergün Barış; Aytemir, Kudret; Kabakçı, Giray
Brugada syndrome is an inherited cardiac arrhythmia condition characterized by coved-type ST elevation and J point elevation of at least 2 mm in at least 2 of the right precordial electrocardiogram (ECG) leads (V1-3). An increasing number of noncardiac agents, including psychotropic and anesthetic drugs, have been shown to induce a characteristic Brugada ECG pattern, predisposing the patient to fatal ventricular arrhythmias. However, there are scarce data regarding the clinical significance. In this case series, a typical Brugada pattern was unmasked by lithium, valproic acid, and thiocolchicoside; however, the clinical scenario was different in all 3 cases, ranging from an asymptomatic patient to sudden cardiac arrest.
Matsumura, Hiroya; Nakano, Yukiko; Ochi, Hidenori; Onohara, Yuko; Sairaku, Akinori; Tokuyama, Takehito; Tomomori, Shunsuke; Motoda, Chikaaki; Amioka, Michitaka; Hironobe, Naoya; Toshishige, Masaaki; Takahashi, Shinya; Imai, Katsuhiko; Sueda, Taijiro; Chayama, Kazuaki; Kihara, Yasuki
A common SCN5A polymorphism H558R (c.1673 A > G, rs1805124) improves sodium channel activity in mutated channels and known to be a genetic modifier of Brugada syndrome patients (BrS). We investigated clinical manifestations and underlying mechanisms of H558R in BrS. We genotyped H558R in 100 BrS (mean age 45 ± 14 years; 91 men) and 1875 controls (mean age 54 ± 18 years; 1546 men). We compared clinical parameters in BrS with and without H558R (H558R+ vs. H558R- group, N = 9 vs. 91). We also obtained right atrial sections from 30 patients during aortic aneurysm operations and compared SCN5A expression and methylation with or without H558R. H558R was less frequent in BrS than controls (9.0% vs. 19.2%, P = 0.028). The VF occurrence ratio was significantly lower (0% vs. 29.7%, P = 0.03) and spontaneous type 1 ECG was less observed in H558R+ than H558R- group (33.3% vs. 74.7%, P = 0.01). The SCN5A expression level was significantly higher and the methylation rate was significantly lower in sections with H558R (N = 10) than those without (0.98 ± 0.14 vs. 0.83 ± 0.19, P = 0.04; 0.7 ± 0.2% vs. 1.6 ± 0.1%, P = 0.004, respectively). In BrS with heterozygous H558R, the A allele mRNA expression was 1.38 fold higher than G allele expression. The SCN5A polymorphism H558R may be a modifier that protects against VF occurrence in BrS. The H558R decreased the SCN5A promoter methylation and increased the expression level in cardiac tissue. An allelic expression imbalance in BrS with a heterozygous H558R may also contribute to the protective effects in heterozygous mutations.
Conclusion: The ST elevation score in VP-ECG objectively documented the degree of ST elevation in surface ECG in Brugada-type ECG patterns. The ST-elevation score might be useful for risk stratification in patients with asymptomatic Brugada syndrome.
Andrés Ricardo Pérez Riera
Full Text Available The Brugada disease, the last clinico-cardiologic entity described in the 20th century, initially called right bundle branch block syndrome with ST segment elevation from V1 to V2 or V3 and sudden cardiac death, is genetically determined in a dominant autosomal mode, and it affects the alpha subunit of the Na+ channel by alteration of chromosome 3 and mutation in the SCN5A gene. In clinical diagnosis the mentioned electrocardiographic pattern in a patient without structural heart disease and positivity in pharmacological tests are considered major criteria. As minor criteria, the following are considered: positive family history, presence of syncope with unknown origin, documented episode of VT/VF, inducibility in electrophysiologic study and positivity of genetic study. The long-standing technology of ECG, with more than a century of existence, remains as the supplementary method with highest value in diagnosis, and currently new electrocardiographic criteria are suggested, which indicate high risk of VF. Natural history indicates a somber diagnosis in symptomatic patients with a high index of arrhythmic SCD secondary to very fast polymorphic ventricular tachycardia bursts, which degenerate into VF. Asymptomatic individuals with only a Brugada-type electrocardiographic pattern have a low risk. The prognosis seems to depend more on clinical facts, since a positive electrophysiologic study has an accuracy of just around 50%. We propose that this entity should be promoted to the category of disease, since it has a characteristic set of signs and symptoms, and an identified genetic defect.
Holst, Anders G; Tangø, Mogens; Batchvarov, Velislav
Right precordial (V1-3) elevated electrode placement ECG (EEP-ECG) is often used in the diagnosis of Brugada syndrome (BrS). However, the specificity of this has only been studied in smaller studies in Asian populations. We aimed to study this in a larger European population.......Right precordial (V1-3) elevated electrode placement ECG (EEP-ECG) is often used in the diagnosis of Brugada syndrome (BrS). However, the specificity of this has only been studied in smaller studies in Asian populations. We aimed to study this in a larger European population....
Objectives: Metabolic syndrome (MetS) is associated with increased risk for type 2 diabetes mellitus, cardiovascular diseases (CVDs) and all-cause mortality. This cross-sectional study examined the prevalence of MetS and its component traits among students in a Nigerian university in whom there are limited data.
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
Komur, Mustafa; Unal, Selma; Okuyaz, Cetin; Ozgur, Anil
Moyamoya syndrome is a chronic, progressive occlusion of cerebrovascular arteries that leads to the development of characteristic collateral vessels. It is usually accompanied with sickle cell disease and other hemoglobinopathies. We report a 7-year-old boy, who admitted to our clinic with headache, diagnosed as moyamoya syndrome associated with sickle cell trait. To date, two such cases have been reported in the literature. As far as we know, this patient is the first child reported. Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
Gema García García
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.
Muscatello, Maria Rosaria A; Bruno, Antonio; Mento, Carmela; Pandolfo, Gianluca; Zoccali, Rocco A
The review focuses on those personality traits (neuroticism, extraversion, openness to experience, agreeableness, and conscientiousness), constructs (alexithymia and distressed - Type D personality) and emotional patterns (negative and positive) that are of particular concern in health psychology, with the aim to highlight their potential role on the pathogenesis, onset, symptom clusters, clinical course, and outcome of irritable bowel syndrome (IBS). Personality traits and emotional patterns play key roles in affecting autonomic, immune, inflammatory, and endocrine functions, thus contributing not only to IBS clinical expression and symptomatic burden, but also to disease physiopathology. In this sense, psychological treatments should address those personality traits and emotional features that are constitutive of, and integral to IBS. The biopsychosocial model of illness applied to IBS acknowledges the interaction between biological, psychological, environmental, and social factors in relation to pain and functional disability. A holistic approach to IBS should take into account the heterogeneous nature of the disorder, and differentiate treatments for different types of IBS, also considering the marked individual differences in prevalent personality traits and emotional patterns. Beyond medications, and lifestyle/dietary interventions, psychological and educational treatments may provide the optimal chance of addressing clinical symptoms, comorbid conditions, and quality of life in IBS patients.
The author was struck by the similarities and commonality of complaints, aside from mood swings, made by Bipolar II patients and started registrating these complaints. This registrational work eventually led to the development of The Bipolar II Syndome Checklist. The aim of this work was to understand how widely the Bipolar II disorder affects the personality, and what disturbing personality traits are the most common? Deliberately, no attempt was made to diagnose psychiatric comorbidities, in the hope that one would get a clearer view of what symptoms, if any, could be considered a natural part of the Bipolar II Disorder. As far as the author knows this is a novel approach. 105 Bipolar II patients completed the Bipolar II Syndrome Checklist. The answers to the 44 questions on the list are presented in tables. Symptoms like anxiety, low self esteem, paranoia, extreme hurtfulness, migraine, Post Partum Depression, obsessive traits, alcoholism in the family are amongst the findings which will be presented in greater detail. No control group. Bipolar I patients excluded. The Bipolar II Syndrome Checklist has not been systematically validated. The results show that Bipolar II Disorder causes multiple symptoms so commonly that it may be justified to describe it as a syndrome, The Bipolar II Syndrome. Also these disturbances commonly lie in families of Bipolar II patients and are in all likelihood, greatly underdiagnosed. The clinical relevance of this study lies in increasing our knowledge and understanding of the nature of the Bipolar II Disorder, which in all probability will increase the diagnostic and treatment accuracy, since clinicians are more likely to scan for other symptoms needing treatment. Copyright © 2015 Elsevier B.V. All rights reserved.
Full Text Available Several causes are known to induce the right precordial ST elevation mimicking Brugada syndrome. Right ventricular outflow area is assumed to be responsible for such ECG changes. We experienced a case of anterior mediastinal infective mass lesion with a Brugada-like ECG. A 52-year-old female, who has pulmonary stenosis and recurrent episodes of right ventricular heart failure, complained of high fever, abdominal discomfort, and edema. On physical examination, jugular vein dilation, hepatomegaly, and facial and leg edema were noted. Leucocytosis was also noted on blood examination. An ECG showed right ventricular hypertrophy, incomplete right bundle branch block pattern and marked ST elevation on precordial leads mimicking Brugada syndrome. Magnetic resonance imaging revealed an abnormal mass shadow located on the anterior mediastinum and compressing the right ventricle (Figure 1A. Trans-thoracic echocardiography also showed the high echogenic mass lesion at the anterior side of right ventricle and the vicinity of pulmonary valve. After treatment with antibiotics, the mass lesion gradually shrunk. Concomitantly, the ST elevation disappeared with improvement of inflammatory markers (Figure 1B. The symptoms suggesting right ventricular failure were also ameliorated. The mechanism of Brugada-like ST elevation in this patient was considered to be compression, by the abnormal infective mass, of the right ventricular outflow tract with/without focal pericardial inflammation.
Wessinger, Carolyn A.; Hileman, Lena C.; Rausher, Mark D.
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 larg...
Baños, Josep Eladi; Elena GUARDIOLA
Síndrome dels Brugada*. Síndrome electrocardiogràfica i clínica descrita l’any 1992 pels germans Brugada, genèticament determinada i causada per una mutació en el canal del sodi, caracteritzada per la mort sobtada en persones sense cardiopatia demostrable i que presenten un electrocardiograma amb blocatge de branca dreta i elevació del segment ST a V1-V3.
Wessinger, Carolyn A; Hileman, Lena C; Rausher, Mark D
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
de Almeida Fernandes, Diogo; António, Natália; Madeira, Marta; Sousa, Pedro; Ventura, Miguel; Cristóvão, João; Nascimento, José; Elvas, Luís; Gonçalves, Lino; Pego, Guilherme Mariano
Brugada syndrome is a hereditary disease linked with an increased risk of sudden death that may require an implantable cardioverter-defibrillator (ICD) in order to halt the arrhythmic events. The aim of this study was to identify possible triggers for appropriate ICD therapies in patients with Brugada syndrome, focusing on their past and current therapeutic profiles. Thirty patients with high-risk Brugada syndrome, with ICD implanted at the Coimbra Hospital and University Center, were enrolled. Patients were questioned about their Brugada syndrome history, previous cardiac events, comorbidities, present and past medications, and physical activity. Patients were followed up during 5.8 ± 5.3 years. The ICD was interrogated, and arrhythmic events and device therapies were recorded. The cohort who received appropriate ICD therapies was compared with the remaining patients to determine the potential link between clinical variables and potentially fatal arrhythmic events. More than half of the patients (53.3%) took at least one non-recommended drug, and 16.7% received appropriate ICD therapies, with a long-term rate of 4.0%/year. There was a tendency for more appropriate ICD therapies in patients who took unsafe drugs (85.7 versus 45.5%, p = 0.062), and the mean time between unsafe drug intake and appropriate ICD therapies was 3.8 ± 7.5 days. This study revealed that the medical community is still unaware of the pharmacological restrictions imposed by Brugada syndrome. Patients who took non-recommended drugs seem to have a higher risk of ventricular arrhythmic events.
van Rijn, Sophie; Swaab, Hanna; Aleman, Andre; Kahn, Rene S.
Although Klinefelter syndrome (47,XXY) has been associated with psychosocial difficulties, knowledge of the social behavioral phenotype is limited. We examined specific social abilities and autism traits in Klinefelter syndrome. Scores of 31 XXY men on the Scale for Interpersonal Behavior and the
Nielsen, Morten; Holst, Anders G; Olesen, Søren Peter
. The prevalence varies with ethnicity ranging from 1:2,000 to 1:100,000 in different parts of the world. Today, hundreds of variants in 17 genes have been associated with BrS of which mutations in SCN5A, coding for the cardiac voltage-gated sodium channel, accounts for the vast majority. Despite this......, approximately 70% of BrS cases cannot be explained genetically with the current knowledge. Moreover, the monogenic role of some of the variants previously described as being associated with BrS has been questioned by their occurrence in about 4% (1:23) of the general population as found in NHLBI GO Exome......-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....
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.
Bókony, Veronika; Kulcsár, Anna; Tóth, Zoltán; Liker, András
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.
Brunetti, Natale D; Ieva, Riccardo; Correale, Michele; Cuculo, Andrea; Santoro, Francesco; Guaricci, Andrea I; De Gennaro, Luisa; Gaglione, Antonio; Di Biase, Matteo
The Brugada electrocardiogram pattern is characterized by coved-type ST-elevation (>2 mm) in the right precordial leads. We report the case of a 62-year-old man, with bipolar disorder, admitted to the emergency department because of dyspnea and chest discomfort. The patient was on treatment with pregabalin and quetiapine. Unexpectedly, electrocardiogram at admission showed diffuse ST-elevation, more evident in inferior leads, where a Brugada-like pattern was present. The patient underwent coronary angiography with a diagnosis of suspected acute coronary syndrome. Coronary angiography, however, showed mild coronary artery disease not requiring coronary angioplasty. Echocardiography did not reveal left ventricular dysfunction or pericardial effusion. Troponin levels remained normal over serial controls. Eventually, chest radiography showed lung opacities and consolidation suggestive for pneumonia. To the best of our knowledge, this is one of the first cases showing a transient Brugada-like electrocardiogram pattern in inferior leads, probably amplified by the administration of pregabalin and quetiapine.
Makarawate, Pattarapong; Chaosuwannakit, Narumol; Ruamcharoen, Yossavadee; Panthongviriyakul, Aunejit; Pongchaiyakul, Choowong; Tharaksa, Prapapan; Sripo, Temsiri; Sawanyawisuth, Kittisak
Background Early repolarization pattern (ERP) is characterized by J-point elevation with QRS notching or slurring in the terminal portion of the QRS complex. It may be associated with sudden death. Brugada syndrome (BS) is a genetic and fatal disease commonly found in northeastern Thai men. Data on the rate and predictors of ERP in Asian populations are limited. In addition, the correlation between ERP and BS has never been studied in an endemic area of BS. This study aimed to evaluate the prevalence of ERP and its associated factors in young, healthy male Asian subjects. Methods Between June 2011 and May 2012, 282 young, healthy men aged 20–45 years were enrolled at check-up clinics in Khon Kaen, Thailand. Subjects were divided into the ERP and non-ERP groups. Results There were 29 subjects with ERP (10.3%). The Sokolow–Lyon index was an independent factor for ERP with an adjusted odds ratio of 1.090 (95% CI: 1.027, 1.159). The Brugada ECG pattern was found in 11 (37.9%) subjects in the ERP group. The Brugada ECG pattern (non-type 1) was commonly found in lateral ERP patients. After the placement of high intercostal leads, the Brugada ECG pattern was dramatically increased compared with results obtained during standard ECG lead placement. Conclusions The ERP rate in young, healthy men from northeastern Thailand was 10.3%. A higher Sokolow–Lyon index was the only independent factor associated with ERP. Subjects with ERP should be examined with high intercostal leads to uncover Brugada ECG. PMID:26336562
Goodman, Jessica; Hassell, Kathryn; Irwin, David; Witkowski, Ewa H; Nuss, Rachelle
The medical records of 25 individuals with sickle cell trait and altitude-associated splenic infarct, reported to two Colorado physicians, were reviewed. Electrospray mass spectroscopy was performed on blood samples from a cohort of 10 of the individuals to rapidly confirm beta hemoglobin phenotype. Only males were identified with a 1.4:1 ratio of non-African Americans to African Americans, and 44% of African Americans and 85% of non-African Americans were unaware they had sickle cell trait. Left upper quadrant pain and an elevated bilirubin were nearly uniformly present. Either abdominal CT or ultrasound was confirmatory. Conservative treatment at a lower altitude generally resulted in a favorable outcome.
Rosas-Guerrero, Víctor; Aguilar, Ramiro; Martén-Rodríguez, Silvana; Ashworth, Lorena; Lopezaraiza-Mikel, Martha; Bastida, Jesús M; Quesada, Mauricio
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. © 2014 John Wiley & Sons Ltd/CNRS.
Herguner, Sabri; Harmanci, Hatice; Hergner, Arzu; Toy, Harun
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…
Santos, Daniel M V; Katzmarzyk, Peter T; Diego, Vincent P; Souza, Michele C; Chaves, Raquel N; Blangero, John; Maia, José A R
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 (pmetabolic 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.
Daniel M V Santos
Full Text Available 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 (p<0.001 for waist 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.
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
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. ©2013 Wiley Periodicals, Inc.
Abbott, D.H.; Levine, J.E.; Dumesic, D.A.
Genetics-based studies of women with polycystic ovary syndrome (PCOS) implicate >20 PCOS risk genes that collectively account for 90% of PCOS cases. Animal models convincingly demonstrate excess fetal testosterone exposure in females as a reliable, epigenetic, developmental origin for PCOS-like traits. In particular, nonhuman primates (NHPs) provide the most faithful emulation of PCOS-like pathophysiology, likely because of close similarities to humans in genomic, developmental, reproductive ...
Calloe, Kirstine; Schmitt, Nicole; Grubb, Søren
Mutations in the SCN5A gene have been linked to Brugada syndrome (BrS), conduction disease, Long QT syndrome (LQT3), atrial fibrillation (AF), and to pre- and neonatal ventricular arrhythmias.......Mutations in the SCN5A gene have been linked to Brugada syndrome (BrS), conduction disease, Long QT syndrome (LQT3), atrial fibrillation (AF), and to pre- and neonatal ventricular arrhythmias....
Bader, Patrick L; Faizi, Mehrdad; Kim, Leo H; Owen, Scott F; Tadross, Michael R; Alfa, Ronald W; Bett, Glenna C L; Tsien, Richard W; Rasmusson, Randall L; Shamloo, Mehrdad
Autism and autism spectrum disorder (ASD) typically arise from a mixture of environmental influences and multiple genetic alterations. In some rare cases, such as Timothy syndrome (TS), a specific mutation in a single gene can be sufficient to generate autism or ASD in most patients, potentially offering insights into the etiology of autism in general. Both variants of TS (the milder TS1 and the more severe TS2) arise from missense mutations in alternatively spliced exons that cause the same G406R replacement in the Ca(V)1.2 L-type calcium channel. We generated a TS2-like mouse but found that heterozygous (and homozygous) animals were not viable. However, heterozygous TS2 mice that were allowed to keep an inverted neomycin cassette (TS2-neo) survived through adulthood. We attribute the survival to lowering of expression of the G406R L-type channel via transcriptional interference, blunting deleterious effects of mutant L-type channel overactivity, and addressed potential effects of altered gene dosage by studying Ca(V)1.2 knockout heterozygotes. Here we present a thorough behavioral phenotyping of the TS2-neo mouse, capitalizing on this unique opportunity to use the TS mutation to model ASD in mice. Along with normal general health, activity, and anxiety level, TS2-neo mice showed markedly restricted, repetitive, and perseverative behavior, altered social behavior, altered ultrasonic vocalization, and enhanced tone-cued and contextual memory following fear conditioning. Our results suggest that when TS mutant channels are expressed at levels low enough to avoid fatality, they are sufficient to cause multiple, distinct behavioral abnormalities, in line with the core aspects of ASD.
Antonini-Canterin, Francesco; Mateescu, Anca D; Vriz, Olga; La Carrubba, Salvatore; Di Bello, Vitantonio; Carerj, Scipione; Zito, Concetta; Sparacino, Lina; Uşurelu, Cătălin; Ticulescu, Răzvan; Ginghină, Carmen; Nicolosi, Gian L; Popescu, Bogdan A
The aims of the study were to evaluate whether a further classification of metabolic syndrome according to the number of traits (based on the Adult Treatment Panel III definition) could better explain the impact on cardiovascular remodeling and function, and to assess the role of single metabolic syndrome components in this regard. We studied by echocardiography and carotid ultrasound 435 asymptomatic patients with metabolic syndrome. Patients with coronary artery disease or more than mild valvular heart disease were excluded. Carotid stiffness index (β) was measured using a high-resolution echo-tracking system. Patients with metabolic syndrome were divided into two groups: metabolic syndrome with three traits (Gr.1) and metabolic syndrome with four or five traits (Gr. 2). Patients in Gr. 2 had higher left ventricular mass index (P < 0.001), left ventricular end-diastolic volume index (P = 0.029), left atrial volume index (P = 0.002), E/e' ratio (P = 0.002), intima-media thickness (P = 0.031), and prevalence of plaques (P = 0.01) than patients in Gr. 1. Left ventricular ejection fraction was similar in both groups. The mean carotid β index tended to be higher in Gr. 2. Considering metabolic syndrome traits separately, in an age-corrected multivariate analysis, abdominal obesity was found to have the strongest association with cardiac structure and carotid artery atherosclerosis and stiffness. An increasing number of metabolic syndrome traits had a significantly worse impact on cardiac remodeling and function and carotid artery atherosclerosis. Abdominal obesity showed the strongest association with cardiac structure, carotid artery stiffness, and intima-media thickness. Prospective studies are needed to evaluate whether a new classification of metabolic syndrome using the number of traits could add prognostic information.
Chockalingam, Priya; Wilde, Arthur A.
Inherited primary arrhythmias, namely congenital long QT syndrome, Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia, account for a significant proportion of sudden cardiac deaths in young and apparently healthy individuals. Genetic testing plays an integral role in the
Dewundara, Samantha; Nassiri, Nariman; Kim, Johnstone M; Kadikoy, Huseyin; Amde, Wendewessen; Tannir, Justin; Hughes, Bret A; Abrams, Gary W
To report a patient with retinal and choroidal vascular occlusion as a presenting sign of sickle cell trait following the development of aqueous misdirection syndrome. Retrospective chart review. A patient treated for bilateral chronic angle-closure glaucoma with sequential EX-PRESS glaucoma filtration device surgery developed sequential bilateral aqueous misdirection syndrome. The left eye developed retinal arterial and localized choroidal vascular occlusions subsequent to an acute elevation in intraocular pressure and possibly the use of oral acetazolamide. The patient was subsequently found to have sickle cell trait. The right eye developed aqueous misdirection with acute elevation of intraocular pressure as well, but the patient was not treated with oral acetazolamide and did not develop vascular occlusion. Retinal and choroidal vascular occlusions can be the presenting sign of a patient with sickle cell trait. Sickle cell screening may be beneficial in African American or Middle Eastern patients after an acute rise in intraocular pressure, particularly before initiation of treatment with oral carbonic anhydrase inhibitors.
Song, Dae Kwang; Sawada, Masayuki; Yokota, Shingo; Kuroda, Kenji; Uenishi, Hiroyuki; Kanazawa, Tetsufumi; Ogata, Hiroyuki; Ihara, Hiroshi; Nagai, Toshiro; Shimoda, Kazutaka
Prader-Willi syndrome (PWS) is a neuro-genetic disorder caused by the absence/loss of expression of one or more paternally expressed genes on chromosome 15 (q11-13). In this study, a comparative analysis of intelligence level and autistic traits was conducted between children with PWS (n = 30; 18 males, 12 females; age = 10.6 ± 2.8 years) and those with Asperger disorder (AD; n = 31; 24 males, 7 females; age = 10.5 ± 3.1 years). The children were compared by age group: lower elementary school age (6-8 years), upper elementary school age (9-12 years), and middle school age (13-15 years). As results, the intelligence levels of children with PWS were significantly lower than those with AD across all age groups. Autistic traits, assessed using the Pervasive Developmental Disorders Autism Society Japan Rating Scale (PARS), revealed that among elementary school age children, those with PWS had less prominent autistic traits than those with AD, however, among middle school age children, those with PWS and AD showed similar prominence. An analysis of the PARS subscale scores by age group showed that while the profiles of autistic traits for children with PWS differed from those of children with AD at elementary school age, the profiles showed no significant differences between the groups at middle school age. The findings suggest that autistic traits in PWS become gradually more prominent with increasing of age and that these autistic traits differ in their fundamental nature from those observed in AD. © 2014 Wiley Periodicals, Inc.
Jaspers, M T; Witkop, C J
A review of the literature on teeth with enlarged pulp chambers and apical displacement of the bifurcation or trifurcation of roots (taurodontism) and investigation of the association of this trait with X-chromosomal aneuploidy shows that: (1) Taurodontism is not a rare trait in modern man, as indicated by the majority of recent reports, but occurs in approximately 2.5% of adult Caucasians. (2) Taurodontism occurs in syndromes, particularly in those having an ectodermal defect. (3) Among 12 patients showing taurodontic teeth radiographically, all had normal karyotypes. (4) Among 12 patients showing various combinations of X-chromosomal aneuploidy, 11 had taurodontic molars. (5) Patients with a female habitus and X-chromosomal aneuploidy as well as patients with a male habitus and X-chromosomal states have taurodontic teeth. (6) There is no simple association of the degree of taurodontism and the number of X chromosomes, but, in general, patients with the more severe forms of the trait--meso- or hypertaurodontism--are more likely to have X-chromosomal aneuploidy. While taurodontism may be viewed as an extension of a continuous trait of pulp chamber size, the extreme shape may arise when conditions disturbing the epithelial-derived root sheath produce a generalized amplified instability of development, as has been suggested from tissue culture studies of X-chromosomal aneuploid cells.
A crucial assumption of animal personality research is that behaviour is consistent over time, showing a high repeatability within individuals. This assumption is often made, sometimes tested using short time intervals between behavioural tests, but rarely thoroughly investigated across long time intervals crossing different stages of ontogeny. We performed such a longitudinal test across three life stages in zebra finches (Taeniopygia guttata), representing about 15-20% of their life span in captivity, and found repeatabilities ranging from 0.03 to 0.67. Fearlessness and exploration were the most repeatable traits both within and across life stages. Activity and aggression were repeatable across, but not or only partly within life stages. Boldness was not repeatable. Furthermore, we found no evidence for a consistent behavioural syndrome structure across ontogeny. Our results indicate that the consistency of behavioural traits and their correlations might be overestimated and suggest that life-long stability of animal personality should not simply be assumed. PMID:26813709
Schuster, Andrea C; Zimmermann, Uwe; Hauer, Carina; Foerster, Katharina
Animals show consistent individual behavioural differences in many species. Further, behavioural traits (personality traits) form behavioural syndromes, characterised by correlations between different behaviours. Mechanisms maintaining these correlations could be constrained due to underlying relationships with cognitive traits. There is growing evidence for the non-independence of animal personality and general cognitive abilities in animals, but so far, studies on the direction of the relationship between them revealed contradictory results. Still, it is hypothesised that individuals may exhibit consistent learning and decision styles. Fast behavioural types (consistently bolder and more active individuals) are expected to show faster learning styles. Slow behavioural types in contrast are assumed to learn slower but more accurately. This can be caused by a speed-accuracy trade-off that individuals face during decision making. We measured the repeatability of three personality and four spatial cognitive traits in adult Eurasian harvest mice (Micromys minutus). We analysed correlations among personality traits (behavioural syndrome). We further investigated the relationships between personality and spatial cognitive traits as a first step exploring the potential connection between personality and cognition in this species. Our results showed that exploration, activity and boldness were repeatable in adult mice. Spatial recognition measured in a Y Maze was also significantly repeatable, as well as spatial learning performance and decision speed. We found no repeatability of decision accuracy. Harvest mice showed a behavioural syndrome as we observed strong positive correlations between personality traits. The speed-accuracy trade-off was not apparent within, nor between individuals. Nevertheless, we found weak evidence for a relationship between personality and spatial cognitive traits as fast behavioural types learned a spatial orientation task faster than slow
Full Text Available Background: Management of patients with the brugada ECG sign who have no previous history of syncope is still negotiable. We present a case of a 57 year-old Caucasian lady who presented to the emergency department with substernal chest pain. Results: Her past medical history showed that she had two previous episodes of lightheadedness, but no syncope. She had a family history of sudden death secondary to unknown cause in her aunt at the age of 61. Physical exam was unremarkable except for diaphoresis. Electrocardiography (ECG showed ST elevation in the right precordial leads (V1-V2 with T inversion, mimicking a STEMI. Emergent cardiac catheterization revealed normal coronary arteries. Echocardiogram was normal. Again, interpretation of ECG revealed a Brugada type 1 pattern, characterized by coved-type, gradually descending ST-T segment, elevated J point of more than 2 mm and T wave inversion. Electrophysiological (EPS testing with a Sodium channel blocker challenge showed a persistent Brugada type 1 pattern with non inducible ventricular tachycardia. This patient had Brugada type 1 ECG pattern with no previous history of syncope (asymptomatic. Thus she was considered at low risk of developing a serious arrhythmogenic event in the future. Conclusion: A history of syncope remains the best available predictor for arrhythmogenic events. EPS testing in such patients, to stratify the risk and predict for any future events, is still controversial. It is still unjustified to place an implantable cardioverter-defibrillator in asymptomatic non-inducible individuals with the Brugada pattern. These patients should follow up closely with a cardiologist and be aware of the risk of possible triggers of ventricular arrhythmias.
Abbott, D.H.; Levine, J.E.; Dumesic, D.A.
Genetics-based studies of women with polycystic ovary syndrome (PCOS) implicate >20 PCOS risk genes that collectively account for PCOS. Clinicians now consider that either rare alleles or non-genetic, potentially epigenetic, developmental origins may contribute key pathogenic components to >90% of PCOS cases. Animal models convincingly demonstrate excess fetal testosterone exposure in females as a reliable, epigenetic, developmental origin for PCOS-like traits. In particular, nonhuman primates (NHPs) provide the most faithful emulation of PCOS-like pathophysiology, likely because of close similarities to humans in genomic, developmental, reproductive and metabolic characteristics, as well as aging. Recent appreciation of potential molecular mechanisms contributing to enhanced LH action in both PCOS women (GWAS-based) and PCOS-like monkeys (DNA methylation-based) suggest commonality in pathogenic origins. This review examines the translational relevance of NHP studies to PCOS, identifying characteristics of newborn females at risk for PCOS-like traits and potential prepubertal treatment interventions to ameliorate PCOS onset. PMID:27426126
Lange; Scobell; Scott
Red-flowered, tubular Penstemon barbatus and Penstemon pinifolius, which have probably adapted independently to hummingbird pollinators, coflower on recently burned high-elevation slopes in the Chiricahua Mountains in Arizona. Hummingbirds visit both species but visit P. barbatus at a higher rate. We compared several traits and asked whether the species differed in specialization for hummingbird pollination. The corollas of P. pinifolius were 30% narrower than those of P. barbatus, but they were similar in tube length. Although a narrower corolla appeared to decrease access by large insects, small halictid bees were the only common insect visitors, and they gathered nectar from both species. Species differences in nectar production rate and concentration were minor, being smaller than within-species differences between dry and rainy periods. Taller inflorescences and a wider corolla tube may contribute to greater hummingbird use of P. barbatus. Penstemon pinifolius was fully self-compatible and weakly autogamous, whereas P. barbatus was strongly self-incompatible and had a longer flower life. Exclusion of hummingbirds reduced seed set fourfold in both species, supporting the inference from morphology and rewards that hummingbirds are the primary pollinators. In the absence of hummingbirds, halictids increased the seed set of P. barbatus relative to exclusion of all visitors, but they did not increase the seed set of P. pinifolius. Despite sharing the basic set of hummingbird-syndrome traits, the two species differed in degree of investment in individual flowers and in adaptations for outcrossing.
Abbott, David H; Levine, Jon E; Dumesic, Daniel A
Genetics-based studies of women with polycystic ovary syndrome (PCOS) implicate >20 PCOS risk genes that collectively account for <10% of PCOS. Clinicians now consider that either rare alleles or non-genetic, potentially epigenetic, developmental origins may contribute key pathogenic components to >90% of PCOS cases. Animal models convincingly demonstrate excess fetal testosterone exposure in females as a reliable, epigenetic, developmental origin for PCOS-like traits. In particular, nonhuman primates (NHPs) provide the most faithful emulation of PCOS-like pathophysiology, likely because of close similarities to humans in genomic, developmental, reproductive and metabolic characteristics, as well as aging. Recent appreciation of potential molecular mechanisms contributing to enhanced LH action in both PCOS women (GWAS-based) and PCOS-like monkeys (DNA methylation-based) suggest commonality in pathogenic origins. This review examines the translational relevance of NHP studies to PCOS, identifying characteristics of newborn females at risk for PCOS-like traits and potential prepubertal treatment interventions to ameliorate PCOS onset.
Daccarett, Marcos; Freih, Mouhanad; Machado, Christian
A 19 years old male presented with a syncopeal episode after heavy marihuana use. A 12 lead ECG demonstrated Brugada-like ST segment elevation in leads V1 and V2. Urine and blood toxicological studies upon admission demonstrated markedly elevated levels of Tetrahydrocannabinol (THC). A 2D echocardiogram demonstrated normal left ventricular function without the presence of any structural or valvular abnormalities. The ST segments normalized once the acute intoxication resolved. A Procainamide induction test was performed without recurrence of the Brugada-like ST segment abnormalities. Our case exemplifies an otherwise healthy male with a negative work-up for a vasovagal mediated syncope and isolated ST segment changes due to THC. The arrhythmic properties of THC have been related to its effect on action potential shortening and vagal tone hyper-stimulation. The ST segment abnormalities are believed to be related to partial sodium channel agonist activity.
Maturana, Victor Gonçalves; de Pace, Fernanda; Carlos, Camila; Mistretta Pires, Mathias; Amabile de Campos, Tatiana; Nakazato, Gerson; Guedes Stheling, Eliana; Logue, Catherine M; Nolan, Lisa K; Dias da Silveira, Wanderley
Avian pathogenic Escherichia coli (APEC) strains cause different types of systemic extraintestinal infections in poultry, collectively termed colibacillosis, which can cause significant economic losses in the poultry industry. To date, there have been no descriptions of genes or characteristics that allow for the classification of avian strains pathotypes responsible for causing specific diseases in their hosts. In this study we aimed to characterize avian E. coli strains representing 4 groups, including one of commensal strains (AFEC - Avian Fecal Escherichia coli) and 3 groups of APEC strains, where each group is responsible for causing a different disease syndrome in their respective hosts (septicemia, omphalitis and swollen head syndrome). We chose to examine several biological characteristics of these strains including: adhesion to eukaryotic cells, pathogenicity levels according to the lethal dose (50%) assay, phylogenetic group and virulence gene profiles. The comparison of strains based on these genotypic and phenotypic traits, using multivariate statisticals tools and complex networks, allowed us to infer information about the population structure of the studied groups. Our results indicate that APEC strains do not constitute a unique homogeneous group, but rather a structured set of subgroups, where each one is associated with a specific infectious syndrome which can possibly be used to define pathotypes or subpathotypes within APEC strains. These results offer new possibilities with which to study the genes responsible for various pathogenetic processes within APEC strains, and for vaccine development. It may be important to consider these subgroups when developing a vaccine in an effort for obtain cross protection, which has not yet been successfully accomplished when working with APEC strains.
Org, Elin; Blum, Yuna; Kasela, Silva; Mehrabian, Margarete; Kuusisto, Johanna; Kangas, Antti J; Soininen, Pasi; Wang, Zeneng; Ala-Korpela, Mika; Hazen, Stanley L; Laakso, Markku; Lusis, Aldons J
The gut microbiome is a complex and metabolically active community that directly influences host phenotypes. In this study, we profile gut microbiota using 16S rRNA gene sequencing in 531 well-phenotyped Finnish men from the Metabolic Syndrome In Men (METSIM) study. We investigate gut microbiota relationships with a variety of factors that have an impact on the development of metabolic and cardiovascular traits. We identify novel associations between gut microbiota and fasting serum levels of a number of metabolites, including fatty acids, amino acids, lipids, and glucose. In particular, we detect associations with fasting plasma trimethylamine N-oxide (TMAO) levels, a gut microbiota-dependent metabolite associated with coronary artery disease and stroke. We further investigate the gut microbiota composition and microbiota-metabolite relationships in subjects with different body mass index and individuals with normal or altered oral glucose tolerance. Finally, we perform microbiota co-occurrence network analysis, which shows that certain metabolites strongly correlate with microbial community structure and that some of these correlations are specific for the pre-diabetic state. Our study identifies novel relationships between the composition of the gut microbiota and circulating metabolites and provides a resource for future studies to understand host-gut microbiota relationships.
Ducasse, Déborah; Jaussent, Isabelle; Olié, Emilie; Guillaume, Sébastien; Lopez-Castroman, Jorge; Courtet, Philippe
Both Premenstrual Syndrome (PMS) and Premenstrual Dysphoric Disorder (PMDD) might increase the risk of suicidal behavior. The aim of this study was to assess the relationship between personality dimensions specifically involved in suicidal vulnerability and PMS/PMDD. We collected data from 232 women consecutively hospitalized after a suicide attempt. We examined the relationship between impulsivity, aggressiveness/hostility, hopelessness, trait anger, affect intensity, emotional lability, and PMS/PMDD. Notably, we created an algorithm from the shortened Premenstrual Assessment form in order to assess PMDD status. The proportions of PMS and PMDD among female suicide attempters were 50% and 23% respectively. Women with PMS or PMDD were more likely to endorse most of these personality traits to than those without even after controlling for potential confounders. We found an impulsive-aggressive pattern of personality in women with PMS or PMDD, independently from the time of the menstrual cycle. Interestingly, trait anger remained associated with both PMS and PMDD independently of every other personality traits. The higher the anger level, the higher the risk was to suffer from both PMS and PMDD. This study demonstrates a strong, independent association between PMS/PMDD and trait anger among a representative sample of female suicide attempters. It is of major interest for clinicians in view of addressing a substantial public health problem among women of reproductive age.
Steven Charles Hertler
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.
Full Text Available Both Premenstrual Syndrome (PMS and Premenstrual Dysphoric Disorder (PMDD might increase the risk of suicidal behavior. The aim of this study was to assess the relationship between personality dimensions specifically involved in suicidal vulnerability and PMS/PMDD.We collected data from 232 women consecutively hospitalized after a suicide attempt. We examined the relationship between impulsivity, aggressiveness/hostility, hopelessness, trait anger, affect intensity, emotional lability, and PMS/PMDD. Notably, we created an algorithm from the shortened Premenstrual Assessment form in order to assess PMDD status.The proportions of PMS and PMDD among female suicide attempters were 50% and 23% respectively. Women with PMS or PMDD were more likely to endorse most of these personality traits to than those without even after controlling for potential confounders. We found an impulsive-aggressive pattern of personality in women with PMS or PMDD, independently from the time of the menstrual cycle. Interestingly, trait anger remained associated with both PMS and PMDD independently of every other personality traits. The higher the anger level, the higher the risk was to suffer from both PMS and PMDD.This study demonstrates a strong, independent association between PMS/PMDD and trait anger among a representative sample of female suicide attempters. It is of major interest for clinicians in view of addressing a substantial public health problem among women of reproductive age.
Serra, Guillem; Baranchuk, Adrián; Bayés-De-Luna, Antoni; Brugada, Josep; Goldwasser, Diego; Capulzini, Lucio; Arazo, David; Boraita, Araceli; Heras, Maria-Eugenia; Garcia-Niebla, Javier; Elosua, Roberto; Brugada, Ramón; Brugada, Pedro
Diagnosis of Type-2 Brugada pattern remains challenging and it could be confused with other electrocardiogram (ECG) patterns presenting an r'-wave in leads V1-V2 like in healthy athletes. This could impact their ability to perform competitive sports. The aim of the study was to evaluate, as a proof of concept, the new ECG criteria to differentiate the Type-2 Brugada pattern from the ECG pattern of healthy athletes depicting an r'-wave in leads V1-V2. Surface ECGs from 50 patients with Brugada syndrome and type-2 Brugada pattern and 58 healthy athletes with an r'-wave in leads V1-V2 were analysed. Different criteria based on the characteristics of the triangle formed by the ascendant and descendant arms of the r'-wave in leads V1-V2 were compared. The duration of the base of the triangle at 0.5 mV (5 mm) from high take-off ≥160 ms (4 mm) has a specificity (SP) of 95.6%, sensitivity (SE) 85%, positive predictive value (PPV) 94.4%, and negative predictive value (NPV) 87.9%. The duration of the base of the triangle at the isoelectric line ≥60 ms (1.5 mm) in leads V1-V2 has an SP of 78%, SE 94.8%, PPV 79.3%, and NPV 93.5%. The ratio of the base at isoelectric line/height from the baseline to peak of r'-wave in leads V1-V2 has an SP of 92.1%, SE 82%, PPV 90.1%, and NPV 83.3%. The three new ECG criteria were accurate to distinguish the Type-2 Brugada pattern from the ECG pattern with an r'-wave in healthy athletes. The duration of the base of the triangle at 0.5 mV from the high take-off is the easiest to measure and may be used in clinical practice. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2014. For permissions please email: firstname.lastname@example.org.
Hedley, Paula L; Jørgensen, Poul; Schlamowitz, Sarah
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...
Kranjcec, Darko; Bergovec, Mijo; Rougier, Jean-Sébastien
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...
Aldaz, C Marcelo; Ferguson, Brent W; Abba, Martin C
WWOX was cloned as a putative tumor suppressor gene mapping to chromosomal fragile site FRA16D. Deletions affecting WWOX accompanied by loss of expression are frequent in various epithelial cancers. Translocations and deletions affecting WWOX are also common in multiple myeloma and are associated with worse prognosis. Metanalysis of gene expression datasets demonstrates that low WWOX expression is significantly associated with shorter relapse-free survival in ovarian and breast cancer patients. Although somatic mutations affecting WWOX are not frequent, analysis of TCGA tumor datasets led to identifying 44 novel mutations in various tumor types. The highest frequencies of mutations were found in head and neck cancers and uterine and gastric adenocarcinomas. Mouse models of gene ablation led us to conclude that Wwox does not behave as a highly penetrant, classical tumor suppressor gene since its deletion is not tumorigenic in most models and its role is more likely to be of relevance in tumor progression rather than in initiation. Analysis of signaling pathways associated with WWOX expression confirmed previous in vivo and in vitro observations linking WWOX function with the TGFβ/SMAD and WNT signaling pathways and with specific metabolic processes. Supporting these conclusions recently we demonstrated that indeed WWOX behaves as a modulator of TGFβ/SMAD signaling by binding and sequestering SMAD3 in the cytoplasmic compartment. As a consequence progressive loss of WWOX expression in advanced breast cancer would contribute to the pro-metastatic effects resulting from TGFβ/SMAD3 hyperactive signaling in breast cancer. Recently, GWAS and resequencing studies have linked the WWOX locus with familial dyslipidemias and metabolic syndrome related traits. Indeed, gene expression studies in liver conditional KO mice confirmed an association between WWOX expression and lipid metabolism. Finally, very recently the first human pedigrees with probands carrying homozygous
Srivastava, Siddharth; Landy-Schmitt, Colleen; Clark, Bennett; Kline, Antonie D; Specht, Matt; Grados, Marco A
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 < 0.0001) and communication (P = 0.001) domains declined significantly. CdLS is characterized by autistic features, notably excessive repetitive behaviors and expressive language deficits. While other adaptive skills are impacted, socialization adaptive skills are less affected. Advancing age can worsen communication and socialization deficits relative to neurotypical peers. © 2014 Wiley Periodicals, Inc.
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.
Miranda-Lora, América L; Vilchis-Gil, Jenny; Molina-Díaz, Mario; Flores-Huerta, Samuel; Klünder-Klünder, Miguel
To estimate the heritability, parental transmission and environmental contributions to the phenotypic variation in type 2 diabetes mellitus and metabolic syndrome-related traits in families of Mexican children and adolescents. We performed a cross-sectional study of 184 tri-generational pedigrees with a total of 1160 individuals (99 families with a type 2 diabetes mellitus proband before age 19). The family history of type 2 diabetes mellitus in three generations was obtained by interview. Demographic, anthropometric, biochemical and lifestyle information was corroborated in parents and offspring. We obtained correlations for metabolic traits between relative pairs, and variance component methods were used to determine the heritability and environmental components. The heritability of early-onset of type 2 diabetes mellitus was 0.50 (p0.50) for blood pressure, HbA1c and HDL-cholesterol after multivariate adjustment (pdiabetes mellitus and insulin resistance, were significantly correlated only through the mother and others, such as hypertriglyceridemia, were significantly correlated only through the father. This study demonstrates that type 2 diabetes mellitus and metabolic syndrome-related traits are highly heritable among Mexican children and adolescents. Furthermore, several cardiometabolic factors have strong heritability and/or high environmental contributions that highlight the complex architecture of these alterations. Copyright © 2017 Elsevier B.V. All rights reserved.
Vassy, Jason L; Shrader, Peter; Yang, Quanhe; Liu, Tiebin; Yesupriya, Ajay; Chang, Man-Huei; Dowling, Nicole F; Ned, Renée M; Dupuis, Josée; Florez, Jose C; Khoury, Muin J; Meigs, James B
Elevated insulin resistance (IR), triglycerides (TG), body mass index (BMI), and waist circumference (WC) are features of the metabolic syndrome. Although several single-nucleotide polymorphisms (SNPs) associated with these traits have been reported, no study has reported their risk allele frequencies and effect sizes among the major U.S. race/ethnic groups in a nationally representative sample. We compared the risk allele frequencies of eight SNPs previously associated with IR, TG, BMI, or WC by race/ethnicity (non-Hispanic white, non-Hispanic black, Mexican American) in 3,030 participants of the National Health and Nutrition Examination Study III (NHANES III). In regression models predicting IR, TG, BMI, WC, and metabolic syndrome, we tested whether the SNP effect sizes on these traits varied by race/ethnicity. Risk allele frequencies varied by race/ethnicity for all eight loci (Prace/ethnicity (P>0.001), although our study had low power for this test. No SNP predicted metabolic syndrome in any of the three groups (P>0.05). The significance of racial/ethnic differences in risk allele frequencies merits consideration if genetic discoveries are to have clinical and public health applicability.
Rumawas, Marcella E; Meigs, James B; Dwyer, Johanna T; McKeown, Nicola M; Jacques, Paul F
The benefit of the Mediterranean-style dietary pattern in mitigating metabolic risk factors for type 2 diabetes and cardiovascular disease has not been well investigated among nondiabetic Americans. The aim of this study was to examine the prospective association between the Mediterranean-style dietary pattern and metabolic syndrome. The Mediterranean-style dietary pattern score (MSDPS) was used to characterize a Mediterranean-style dietary pattern in the Framingham Heart Study Offspring Cohort. We examined the longitudinal association between MSDPS and metabolic syndrome traits (including homeostasis model assessment-insulin resistance, fasting glucose, waist circumference, triglyceride, HDL cholesterol, and systolic and diastolic blood pressure) among 2730 participants of the Framingham Heart Study Offspring Cohort without type 2 diabetes (baseline median age: 54 y; 55% women), who were followed from the fifth (baseline) to the seventh study examinations (mean follow-up time: 7 y), and metabolic syndrome incidence (according to the National Cholesterol Education Program Adult Treatment Panel III definition) in 1918 participants free of the condition at baseline. A higher MSDPS was associated with lower homeostasis model assessment-insulin resistance (P = 0.02), waist circumference (P metabolic syndrome than those in the lowest quintile category (38.5% compared with 30.1%; P = 0.01). Our study suggests that the consumption of a diet consistent with the principles of the Mediterranean-style diet may protect against metabolic syndrome in Americans.
Andrew R. Gavin, MBChB
Full Text Available A 45-year old man presents with stable monomorphic ventricular tachycardia. He had previously been diagnosed with idiopathic fascicular ventricular tachycardia. Intravenous flecainide results in termination of his tachycardia but unmasks a latent type 1 Brugada ECG pattern not seen on his resting ECG. We discuss his subsequent management and the need to consider an alternative diagnosis in individuals with a Brugada type ECG pattern who present with stable monomorphic ventricular tachycardia.
Conclusions: IC/BPS patients frequently exhibit several mental health disorders and negative personality traits. Therefore, in addition to targeting the bladder pathological condition, psychological intervention focusing on personality traits and anxiety mood status should be provided to improve quality of life of IC/BPS patients.
Pecini, Redi; Cedergreen, Pernille Kallerup; Theilade, Simone
The prevalence of the Brugada-type electrocardiogram (ECG) in the Danish population is not known.......The prevalence of the Brugada-type electrocardiogram (ECG) in the Danish population is not known....
In analogy to the thesis of "pain-proneness", conceptualised by G. Engel more than 50 years ago, the idea of a unique structure in personality emerged, which was given a causal meaning in the development of Sudeck's Disease (now known as complex regional pain syndrome - CRPS), of which the pathogenesis is particularly unknown until today. It was supposed that certain psychological traits predispose one to develop CRPS. Predisposition in this context was apprehended as a personal susceptibility to produce and maintain an excessive reaction to nociceptive stimulations. This model has been maintained for a long time and was the subject of scientific examination just in the last two decades. Some publications reporting sporadic correlations between CRPS and certain personality traits, for example anxiety, neuroticism and depressive mood, are presented as are also 15 current empirical studies and five reviews, which deal in a more differentiated manner with the formulated question and lead to sobering results. The relevant state of research as well as the fundamental and methodical difficulties in regard to verifying a CRPS personality or pain-prone personality are discussed critically. In general, there is a lack of high-quality relevant studies. Some retrospective/cross-sectional studies yield contradictory results regarding psychological problems in patients with CRPS but the majority shows no association, and studies with higher methodological quality tend to the conclusion of no relationship between psychological factors like depression, anxiety, neuroticism, or anger and CRPS. Especially, the few prospective studies do not report such a relationship, psychological factors are not associated with CRPS onset. Compared to other patients with chronic pain there is no unique disturbed psychological profile and no higher degree of psychosocial disturbance in CRPS patients. In all, the results of research cannot confirm the hypothesis of correlations between
Remme, Carol Ann; Wilde, Arthur A. M.; Bezzina, Connie R.
Cardiac sodium channel dysfunction caused by mutations in the SCN5A gene is associated with a number of relatively uncommon arrhythmia syndromes, including long-QT syndrome type 3 (LQT3), Brugada syndrome, conduction disease, sinus node dysfunction, and atrial standstill, which potentially lead to
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
Santos, Daniel M. V.; Katzmarzyk, Peter T.; Diego, Vincent P.; Souza, Michele C.; Chaves, Raquel N.; Blangero, John; Maia, Jos? A. R.
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...
Cubeddu, Luigi X; Hoffmann, Irene S
Metabolic syndrome, impaired fasting glucose (IFG), and impaired glucose tolerance (IGT) predict risk for type 2 diabetes mellitus (T2DM). To determine if increased risk preceded development of these abnormalities, β-cell function and insulin resistance were assessed in euglycemic subjects with and without traits of metabolic syndrome. A total of 562 apparently healthy Latin-American subjects were screened for metabolic syndrome [National Education Cholesterol Program Adult Treatment Panel III (NECP ATP III)]. Early pancreatic insulin response ΔInsulin(0-30)/ΔGlucose(0-30), Matsuda index, disposition index (DI), and homeostasis model assessment of insulin resistance (HOMA-IR) ratio were obtained from oral glucose tolerance testing (0-180 min). ΔI(0-30)/ΔG(0-30), Matsuda index, DI, and HOMA-IR deteriorated in direct proportion with number of traits of metabolic syndrome, and with increases in glucose levels within the euglycemic range. DI was the most sensitive index. In subjects with 1, 2, 3, and 4-5 traits, DI was 21.4%, 40%, 57%, and 76% lower, respectively, than in subjects with no traits. As a single trait, abdominal obesity was associated with insulin resistance, whereas, low high-density lipoprotein cholesterol (HDL-C), alone or combined with high triglycerides, was not associated with insulin resistance or β-cell dysfunction. Combined impairments in β-cell function and insulin sensitivity were responsible for the increases in fasting and 2-h plasma glucose concentrations within the euglycemic range. Impaired β-cell function and increased insulin resistance are present much before development of metabolic syndrome, IFG, or IGT. β-Cell function and insulin sensitivity worsen in direct proportion with number of traits of metabolic syndrome and increases in glucose levels. Compared to abdominal obesity, low HDL-C±high triglycerides may bear a lesser weight in predicting risk of T2DM.
Lee, Hyejin; Oh, Jee-Young; Sung, Yeon-Ah; Chung, Hye Won
Is a genetic risk score (GRS) associated with polycystic ovary syndrome (PCOS) and its related clinical features? The GRS calculated by genome-wide association studies (GWASs) was significantly associated with PCOS status and its related clinical features. PCOS is a heterogeneous disorder and is characterized by oligomenorrhea, hyperandrogenism and polycystic ovary morphology. Although recent GWASs have identified multiple genes associated with PCOS, a comprehensive genetic risk study of these loci with PCOS and related traits (e.g. free testosterone, menstruation number/year and ovarian morphology) has not been performed. This study was designed as a cross-sectional case-control study. We recruited 862 women with PCOS and 860 controls. Women with PCOS were divided into four subgroups: (1) oligomenorrhea + hyperandrogenism + polycystic ovary, (2) oligomenorrhea + hyperandrogenism, (3) oligomenorrhea + polycystic ovary and (4) hyperandrogenism + polycystic ovary. Genomic DNA was genotyped for the PCOS susceptibility loci using the HumanOmni1-Quad v1 array. Venous blood was drawn in the early follicular phase to measure baseline metabolic and hormonal parameters. A GRS was calculated by summing the number of risk alleles from 11 single-nucleotide polymorphisms (SNPs) that were identified in previous GWASs on PCOS. A weighted GRS (wGRS) was calculated by multiplying the number of risk alleles for each SNP by its estimated effect (beta) obtained from the association analysis. The GRS was higher in women with PCOS than in controls (8.8 versus 8.2, P < 0.01) and was significantly associated with PCOS after adjusting for age and BMI. An analysis of GRS quartiles (Q1 = 3-5, Q2 = 6-8, Q3 = 9-11, Q4 = 12-15) revealed that the subjects in the highest quartile showed a remarkable increased risk of PCOS compared with those in the lowest quartile (odds ratio = 6.28, P < 0.001). Free testosterone level, menstruation number per year, ovarian volume and ovarian follicle numbers
Carbonneau, Élise; Royer, Marie-Michelle; Richard, Caroline; Couture, Patrick; Desroches, Sophie; Lemieux, Simone; Lamarche, Benoît
The objective of this study was to investigate the impact of the Mediterranean diet (MedDiet) consumed before and after weight loss on eating behavioral traits as measured by the Three-Factor Eating Questionnaire (TFEQ) in men with metabolic syndrome (MetS). In this fixed sequence study, 19 men with MetS (National Cholesterol Education Program-Adult Treatment Panel III (NCEP-ATPIII) criteria), aged between 24 and 62 years, first consumed a five-week standardized North American control diet followed by a five-week MedDiet, both under weight-maintaining controlled-feeding conditions. This was followed by a 20-week caloric restriction weight loss period in free-living conditions, without specific recommendations towards adhering to the principles of the MedDiet. Participants were finally subjected to a final five-week MedDiet phase under isoenergetic controlled-feeding conditions. The MedDiet before weight loss had no impact on eating behavioral traits. Body weight reduction by caloric restriction (-10.2% of initial weight) was associated with increased cognitive restraint (p < 0.0001) and with reduced disinhibition (p = 0.02) and susceptibility to hunger (p = 0.01). Feeding the MedDiet for five weeks under isoenergetic conditions after the weight loss phase had no further impact on eating behavioral traits. Results of this controlled-feeding study suggest that consumption of the MedDiet per se has no effect on eating behavioral traits as measured by TFEQ, unless it is combined with significant weight loss.
Full Text Available The objective of this study was to investigate the impact of the Mediterranean diet (MedDiet consumed before and after weight loss on eating behavioral traits as measured by the Three-Factor Eating Questionnaire (TFEQ in men with metabolic syndrome (MetS. In this fixed sequence study, 19 men with MetS (National Cholesterol Education Program-Adult Treatment Panel III (NCEP-ATPIII criteria, aged between 24 and 62 years, first consumed a five-week standardized North American control diet followed by a five-week MedDiet, both under weight-maintaining controlled-feeding conditions. This was followed by a 20-week caloric restriction weight loss period in free-living conditions, without specific recommendations towards adhering to the principles of the MedDiet. Participants were finally subjected to a final five-week MedDiet phase under isoenergetic controlled-feeding conditions. The MedDiet before weight loss had no impact on eating behavioral traits. Body weight reduction by caloric restriction (−10.2% of initial weight was associated with increased cognitive restraint (p < 0.0001 and with reduced disinhibition (p = 0.02 and susceptibility to hunger (p = 0.01. Feeding the MedDiet for five weeks under isoenergetic conditions after the weight loss phase had no further impact on eating behavioral traits. Results of this controlled-feeding study suggest that consumption of the MedDiet per se has no effect on eating behavioral traits as measured by TFEQ, unless it is combined with significant weight loss.
Tokareva, A. A.; M. Ye. Melnikov; O. S. Shubina; I. A. Nesina; Ye. I. Miguskina
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 ps...
Hofman, Nynke; Tan, Hanno L.; Alders, Marielle; van Langen, Irene M.; Wilde, Arthur A.M.
Objectives: The purpose of this study was to investigate the follow-up and treatment of the mutation-carrying relatives of a proband with an inherited arrhythmia syndrome. Background: The congenital long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and Brugada
A. A. Tokareva
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.
Morlino, Silvia; Dordoni, Chiara; Sperduti, Isabella; Venturini, Marina; Celletti, Claudia; Camerota, Filippo; Colombi, Marina; Castori, Marco
Joint hypermobility syndrome (JHS) and Ehlers-Danlos syndrome, hypermobility type (EDS-HT) are two overlapping heritable disorders (JHS/EDS-HT) recognized by separated sets of diagnostic criteria and still lack a confirmatory test. This descriptive research was aimed at better characterizing the clinical phenotype of JHS/EDS-HT with focus on available diagnostic criteria, and in order to propose novel features and assessment strategies. One hundred and eighty-nine (163 females, 26 males; age: 2-73 years) patients from two Italian reference centers were investigated for Beighton score, range of motion in 21 additional joints, rate and sites of dislocations and sprains, recurrent soft-tissue injuries, tendon and muscle ruptures, body mass index, arm span/height ratio, wrist and thumb signs, and 12 additional orthopedic features. Rough rates were compared by age, sex, and handedness with a series of parametric and non-parametric tools. Multiple correspondence analysis was carried out for possible co-segregations of features. Beighton score and hypermobility at other joints were influenced by age at diagnosis. Rate and sites of joint instability complications did not vary according to age at diagnosis except for soft-tissue injuries. No major difference was registered by sex and dominant versus non-dominant body side. At multiple correspondence analysis, selected features tend to co-segregate in a dichotomous distribution. Dolichostenomelia and arachnodactyly segregated independently. This study pointed out a more protean musculoskeletal phenotype than previously considered according to available diagnostic criteria for JHS/EDS-HT. Our findings corroborated the need for a re-thinking of JHS/EDS-HT on clinical grounds in order to find better therapeutic and research strategies. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.
Lugnegård, Tove; Hallerbäck, Maria Unenge; Gillberg, Christopher
In clinical practice, the differential diagnosis of Asperger syndrome (AS) versus schizophrenia can be a challenge. Some self-report instruments-such as the Autism-spectrum Quotient (AQ)-have been portrayed as proxies for the diagnosis of AS. However, it has not been demonstrated to what extent autistic traits-as measured by the AQ-separate AS from schizophrenia. To examine the AS-schizophrenia discriminating ability of the AQ. The AQ is a 50-item self-administered questionnaire (with score range 0-50) for measuring "autistic traits" in adults. Here, it was completed by 136 individuals: 36 with schizophrenic psychosis, 51 with AS and 49 non-clinical comparison cases. A receiver operating characteristic (ROC) analysis for the total AQ score was performed to examine the discriminating power of the instrument. Both individuals with schizophrenia and individuals with AS scored significantly higher on AQ than the non-clinical group. The mean total AQ score (± standard deviation) of the AS group (26.7 ± 8.9; range 9-44) was significantly higher than that of the schizophrenia group (22.7 ± 6.2; range 10-35) (P = 0.041). However, when using the full Likert scale for scoring, the difference did not reach significance. In the ROC analysis of total AQ scores for AS versus schizophrenia, the area under the curve (AUC) was 0.65 (P = 0.02). Although mean AQ scores separated AS and schizophrenia at a group comparison level, significant overlap of AQ scores across the two diagnostic groups clearly reduces the discriminating power of the AQ in the separation of schizophrenia from AS.
Chang, B J; Park, S U; Jang, Y S; Ko, S H; Joo, N M; Kim, S I; Kim, C-H; Chang, D K
This study was aimed to assess the beneficial effects on metabolic syndrome of functional yogurt NY-YP901 (Namyang Dairy Product Co. Ltd and Nutra R&BT Inc., Seoul, Korea) supplemented with mixture of Streptococcus thermophilus, Lactobacillus acidophilus, Bifidobacterium infantis and extra-ingredients containing Bifidobacterium breve (CBG-C2), Enterococcus faecalis FK-23, fibersol-2 and so on. This study was designed as an 8-week randomized, double-blind, placebo-controlled, parallel study. Treatment and control groups consumed a functional yogurt NY-YP901 (150 ml) and a placebo yogurt twice a day, respectively, for 8 weeks. Body weight and body mass index (BMI), blood pressure, lipid profiles, fasting glucose with HbA1C and waist circumference were measured before and after treatment. Inclusion criteria were healthy individuals between the ages 20-65 years old who submitted an informed consent. During the period August 2009 to December 2009, 101 healthy participants (31 males and 70 females) finished the study. Treatment group were 53 individuals, and the control group were 48 individuals. In the treatment group consuming NY-YP901, statistically significant beneficial changes were observed in body weight (treatment group vs control group=-0.24±1.50 vs +0.64±1.39 kg, Pcholesterol (-7.71±14.14 vs -0.43±15.32 mg/dl, Pyogurt NY-YP901 reduced LDL-cholesterol, body weight and BMI in the subjects at a 300-ml consumption daily for 8 weeks. From these findings, regular intake of functional yogurt NY-YP901 may be consequently related to improve metabolic syndrome.
Hurtado-Roca, Yamilee; Bueno, Hector; Fernandez-Ortiz, Antonio; Ordovas, Jose Maria; Ibañez, Borja; Fuster, Valentin; Rodriguez-Artalejo, Fernando; Laclaustra, Martin
This study assesses whether oxidative stress, using oxidized LDL (ox-LDL) as a proxy, is associated with metabolic syndrome (MS), whether ox-LDL mediates the association between central obesity and MS, and whether insulin resistance mediates the association between ox-LDL and MS. We examined baseline data from 3,987 subjects without diabetes in the Progression of Early Subclinical Atherosclerosis (PESA) Study. For the second, third, and fourth ox-LDL quartiles versus the first, the odds ratios (95% CI) for MS were 0.84 (0.52, 1.36), 1.47 (0.95, 2.32), and 2.57 (1.66, 4.04) (P insulin resistance (HOMA-IR). Results showing the same trend were found for all MS components except glucose concentration. Ox-LDL mediated 13.9% of the association of waist circumference with triglycerides and only 1-3% of the association with HDL-cholesterol, blood pressure, and insulin concentration. HOMA-IR did not mediate the association between ox-LDL and MS components. This study found higher ox-LDL concentrations were associated with MS and its components independently of central obesity and insulin resistance. Ox-LDL may reflect core mechanisms through which MS components develop and progress in parallel with insulin resistance and could be a clinically relevant predictor of MS development. © 2017 by the American Diabetes Association.
Skodova, Zuzana; Lajciakova, Petra
The aims of this paper were to explore the influence of personality factors on student burnout syndrome and to explore the effect of psychosocial training on burnout and personality predictors among university students in health care professions. A quasi-experimental pre-test/post-test design was used to evaluate the effect of psychosocial training. A sample of 111 university students were divided into experimental and control groups (average age 20.7 years, SD=2.8 years; 86.1% females). The School Burnout Inventory (SBI), Sense of Coherence (SOC) questionnaire, and Rosenberg's Self-esteem scale were employed. Linear regression and analysis of variance were applied for statistical analysis. The results show that socio-psychological training had a positive impact on the level of burnout and on personality factors that are related to burnout. After completing the training, the level of burnout in the experimental group significantly decreased (95% confidence interval: 0.93, 9.25), and no significant change was observed in the control group. Furthermore, respondents' sense of coherence increased in the experimental group (95% confidence interval: -9.11, 2.64), but there were no significant changes in respondents' self-esteem levels in either group. Psychosocial training positively influenced burnout among students in health care professions. Because the coping strategies that were used during the study are similar to effective work coping strategies, psychosocial training can be considered to be an effective tool to prevent burnout in the helping professions. Copyright © 2013. Published by Elsevier Ltd.
David Miranda Noé
Full Text Available Desde su primera descripción el Sindrome de Brugada ha despertado gran interés científico como causa de muerte súbita. Presentamos el caso de un varón de 45 años quien ingresó al hospital en arresto cardiaco y en su evolución se le diagnosticó Sindrome de Brugada lográndose el implante de un cardiodesfibrilador como opción terapéutica definitiva. Resaltamos la importancia de reconocer el patrón electrocardiográfico característico y de considerar esta canalopatía en el diagnóstico diferencial de muerte súbita. (Rev Med Hered 2009;20:225-229.
Jonathan R. Skinner
Full Text Available Sudden unexpected nocturnal death among patients with diabetes occurs approximately ten times more commonly than in the general population. Malignant ventricular arrhythmia due to Brugada syndrome has been postulated as a cause, since a glucose-insulin bolus can unmask the Brugada electrocardiographic signature in genetically predisposed individuals. In this report we present a 16-year-old male with insulin-dependent diabetes who died suddenly at night. His diabetes had been well controlled, without significant hypoglycaemia. At autopsy, he had a full stomach and a glucose level of 7 mmol/L in vitreous humor, excluding hypoglycaemia. Genetic analysis of autopsy DNA revealed a missense mutation, c.370A>G (p.Ile124Val, in the GPD1L gene. A parent carried the same mutation and has QT prolongation. Mutations in this gene have been linked to Brugada syndrome and sudden infant death. The patient may have died from a ventricular arrhythmia, secondary to occult Brugada syndrome, triggered by a full stomach and insulin. The data suggest that molecular autopsies are warranted to investigate other cases of the diabetic dead-in-bed syndrome.
Amarilys Valero Hernández
Full Text Available El síndrome de Brugada es un trastorno eléctrico primario, en ausencia de cardiopatía estructural, asociado a un significativo aumento del riesgo de muerte súbita en individuos jóvenes. A 25 años de su descubrimiento aumentan las controversias, se han descrito más de 300 mutaciones y varios genes involucrados. Se presenta el caso de un hombre de 44 años de edad, sin antecedentes personales o familiares de enfermedad cardiovascular, que manifiesta varios episodios sincopales y que en el electrocardiograma basal muestra un patrón tipo Brugada. Se realizó una prueba de provocación farmacológica que expresó típicamente los criterios para plantear el síndrome arritmogénico. Tras el diagnóstico se le implantó un cardiodesfibrilador automático con lo cual ha tenido una evolución clínica favorable. El síndrome de Brugada se puede diagnosticar a través del electrocardiograma de superficie, lo cual permite prevenir una de las principales causas de muerte súbita cardíaca a través del empleo de un cardiodesfibrilador.
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.
Aizawa, Yoshiyasu; Sato, Masahito; Ohno, Seiko; Horie, Minoru; Takatsuki, Seiji; Fukuda, Keiichi; Chinushi, Masaomi; Usui, Tatsuya; Aonuma, Kazutaka; Hosaka, Yukio; Haissaguerre, Michel; Aizawa, Yoshifusa
The circadian pattern of ventricular fibrillation (VF) episodes in patients with idiopathic ventricular fibrillation (IVF) is poorly understood. The purpose of this study was to assess the circadian pattern of VF occurrence in patients with IVF. Excluding Brugada syndrome and other primary electrical diseases, the circadian pattern of VF occurrence was determined in 64 patients with IVF. The clinical and electrocardiographic characteristics were compared among patients with nocturnal (midnight to 6:00 AM) VF and nonnocturnal VF in relation to J waves. A J wave was defined as either notching or a slur at the QRS terminal >0.1 mV above the isoelectric line in contiguous leads. The overall distribution pattern of VF occurrence showed 2 peaks at approximately 6:00 AM and around 8:00 PM. Nocturnal VF was observed in 20 patients (31.3%), and J waves were present in 14 of these 20 individuals (70.0%), whereas J waves were less frequent in the 44 nonnocturnal patients with VF: 16 (36.4%) (P = .0117). Among patients with J waves, nocturnal VF was observed in 46.7% with a peak at approximately 4:00 AM. Nocturnal VF was less common in patients without J waves, occurring in only 17.6% (P = .0124). Both the type and location of J waves and the pattern of the ST segment were similar between the nocturnal and nonnocturnal VF groups. J waves were associated with a VF storm and long-term arrhythmia recurrence. In IVF, the presence of J waves may characterize a higher nocturnal incidence of VF and a higher acute and chronic risk of recurrence. Copyright © 2014 Heart Rhythm Society. Published by Elsevier Inc. All rights reserved.
Barajas-Martínez,Héctor; Hu, Dan; Antzelevitch, Charles
El síndrome de Brugada es una enfermedad hereditaria caracterizada por una anormalidad electrocardiográfica y un aumento del riesgo de muerte súbita cardiaca. El síndrome de Brugada puede ser causado por la presencia de mutaciones en el gen SCN5A en aproximadamente el 20% de los casos familiares. El gen SCN5A codifica la subunidad a del canal iónico de sodio en las células cardiacas. Estudios realizados durante la última década en genética molecular han permitido identificar 11 nuevos genes c...
Bernard, Arthur Ellis
Most students with Asperger's syndrome are taught in general education classes by teachers who do not have special education training and it is the usually the administrator's responsibility to determine which general education teacher will teach a child with Asperger's syndrome. It is likely that most such decisions rely heavily on the…
Duthoit, Guillaume; Fressart, Véronique; Hidden-Lucet, Françoise; Simon, Françoise; Kattygnarath, Darouna; Charron, Philippe; Himbert, Caroline; Aouate, Philip; Guicheney, Pascale; Lecarpentier, Yves; Frank, Robert; Hébert, Jean-Louis
Brugada syndrome (BrS) is considered a primary electrical disease. However, morphological abnormalities have been reported and localized arrhythmogenic right ventricular (RV) dysplasia/cardiomyopathy (ARVD/C) may mimic its phenotype, raising the question of an overlap between these two conditions and making difficult the therapeutic management of patients with borderline forms. The main objective of this study was to assess prospectively the prevalence of BrS and ARVD/C on the basis of international criteria, in patients with BrS-ECG and normal echocardiography, looking for a potential overlap between the two pathologies. The secondary objectives were to describe and quantify angiographic structural alterations, hemodynamics, electrophysiology, and genetics in the setting of BrS-ECG. Hundred and fourteen consecutive patients matched in age underwent prospectively cardiac catheterization and quantitative biventricular contrast angiography to rule out a structural heart disease. Fifty-one patients with a BrS-ECG (BrS group, 7 F, 44 M, 43 ± 11 y) had a spontaneous or ajmaline-induced BrS coved type ECG. For angiographic comparison, 49 patients with localized ARVD/C but without ST segment elevation in the right precordial leads (14 F, 35 M, 39 ± 13 y) were also studied. They fulfilled international ESC/WHF 2000 criteria and presented angiographic localized forms, mainly confined to hypokinetic anteroapical zone (characterized by trabecular dysarray and hypertrophy), and/or diaphragmatic wall, thus resulting in RV normal volumes and preserved systolic function. These two populations were also compared with 14 control patients (7 F, 7 M, 38 ± 16 y). Among BrS group, we identified three main angiographic phenotypes: BrS group I = patients with normal RV (n = 15, 29%); BrS group II = patients with segmental RV wall motion abnormalities but no structural arguments for ARVD/C (n = 26, 51%); BrS group III = patients with localized abnormalities suggestive of focal ARVD
Popovski, Z T; Tanaskovska, B; Miskoska-Milevska, E; Andonov, S; Domazetovska, S
Stress syndrome is usually caused by a mutation in the ryanodine receptor gene (ryr1) and it is widely studied in humans and swine populations. The protein product of this gene plays a crucial role in the regulation of calcium transport in muscle cells. A G>T mutation in the human ryr1 gene, which results in the replacement of a conserved arginine at position 614 where a leucine occurs at the same position as the previously identified Arg→Cys mutation reported in all cases of porcine stress syndrome (PSS). Porcine stress syndrome affects biochemical pathways in stress-susceptible individuals during a stress episode and some biochemical parameters that were used as markers for diagnostic purposes. Also, PSS has remarkable influence on the maternal characteristics of sows. This study dealt with different genotypes for PSS and its association with possible biochemical changes and maternal traits of sows. Seventy-three reproductive sows genotyped for PSS by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) were included in this survey. Sixty of them were stress-free (NN), 11 were heterozygous carriers (Nn) and two animals were homozygous (nn) for the 1843 (C>T) mutation. Significant differences in non stress induced animals with different PSS genotypes were found in the values of creatine phoshokinase (CPK), lactate dehydrogenase (LDH), alkaline phosphatase (AP) and aspartate aminotransferase (AST). Regarding the maternal traits, our study showed that stress susceptible animals (nn) have an increased number of stillborn piglets and a reduced number of newborn piglets compared with heterozygous and normal animals.
Full Text Available Stress syndrome is usually caused by a mutation in the ryanodine receptor gene (ryr1 and it is widely studied in humans and swine populations. The protein product of this gene plays a crucial role in the regulation of calcium transport in muscle cells. A G>T mutation in the human ryr1 gene, which results in the replacement of a conserved arginine at position 614 where a leucine occurs at the same position as the previously identified Arg→Cys mutation reported in all cases of porcine stress syndrome (PSS. Porcine stress syndrome affects biochemical pathways in stress-susceptible individuals during a stress episode and some biochemical parameters that were used as markers for diagnostic purposes. Also, PSS has remarkable influence on the maternal characteristics of sows. This study dealt with different genotypes for PSS and its association with possible biochemical changes and maternal traits of sows. Seventy-three reproductive sows genotyped for PSS by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP were included in this survey. Sixty of them were stress-free (NN, 11 were heterozygous carriers (Nn and two animals were homozygous (nn for the 1843 (C>T mutation. Significant differences in non stress induced animals with different PSS genotypes were found in the values of creatine phoshokinase (CPK, lactate dehydrogenase (LDH, alkaline phosphatase (AP and aspartate aminotransferase (AST. Regarding the maternal traits, our study showed that stress susceptible animals (nn have an increased number of stillborn piglets and a reduced number of newborn piglets compared with heterozygous and normal animals.
Luzza, Francesco; Crea, Pasquale; Nicotera, Angela; Picciolo, Giuseppe; Pugliatti, Pietro; Oreto, Giuseppe
Since the first report in 1992, Brugada pattern (BP) diagnosis is mainly based on analysis of the precordial leads. In cases with no clear BP evidence in the conventional right precordial leads (4th intercostal space), limb leads analysis resulted helpful in suspecting BP. Fluctuations within right precordial leads between the diagnostic ECG pattern and nondiagnostic ECGs are well known. For the first time, in the patient herewith reported, the transformation of BP phenotype involves both precordial and peripheral leads, confirming that the analysis of all the 12 leads has a key role in BP diagnosis. © 2015 Wiley Periodicals, Inc.
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
Kim, Seon-Young; Stewart, Robert; Bae, Kyung-Yeol; Kim, Sung-Wan; Shin, Il-Seon; Hong, Young Joon; Ahn, Youngkeun; Jeong, Myung Ho; Yoon, Jin-Sang; Kim, Jae-Min
Influences of the Big Five personality traits on the treatment response and longitudinal course of depression in patients with acute coronary syndrome: A randomised controlled trial. This naturalistic observational study initially recruited 1152 ACS patients; 685 patients completed personality assessments at baseline, of whom 630 were followed-up one year later. Of the 294 patients with depression, 207 participated in a 24-week double blind trial of escitalopram or placebo. The remaining 87 patients who received medical treatment only and the 391 who had not depression were also followed in a one year naturalistic observational study. The Big five personality traits were assessed using the Big Five Inventory. The influences of personality on the Hamilton Depression Rating Scale score changes were analysed using a mixed-model repeated-measures analysis of covariance. A Cluster analysis identified two personality types: resilient and vulnerable. The vulnerable personality type was characterized by lower extraversion, agreeableness, and conscientiousness - but higher neuroticism - than the resilient type. This personality type was independently associated with a poorer outcome of depression in ACS patients during the 24-week treatment period and the one year longitudinal follow-up period compared to the resilient personality type, irrespective of treatment allocation. Recruitment from a single institution may limit generalisability. Personality traits were investigated 12-weeks after ACS; thus, the responses may have been influenced by the prior receipt of escitalopram. Personality types influences the treatment outcome and longitudinal course of depression in ACS patients independent of antidepressant treatment. Copyright © 2016 Elsevier B.V. All rights reserved.
Guilherme de Oliveira Band
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.
Dusatkova, L.; Zamrazilova, H.; Sedlackova, B.; Vcelak, J.; Hlavaty, P.; Hainerova, I.A.; Korenková, Vlasta; Bradnova, O.; Bendlova, B.; Kunesova, M.; Hainer, V.
Roč. 59, č. 3 (2013), s. 123-133 ISSN 0015-5500 Institutional research plan: CEZ:AV0Z50520701 Keywords : Genome-wide association studies * obesity * metabolic syndrome Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 0.778, year: 2013
Moshier, M. S.; York, T. P.; Silberg, J. L.; Elsea, S. H.
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…
This study assesses whether oxidative stress, using oxidized LDL (ox-LDL) as a proxy, is associated with metabolic syndrome (MS), whether ox-LDL mediates the association between central obesity and MS, and whether insulin resistance mediates the association between ox-LDL and MS. We examined baselin...
Raoyrin Chanavirut, MSc
Conclusion: Thai BrS patients had a more rapid rate of restoration of the parasympathetic and smaller level of sympathetic activation after exercise. They had mild hyperkalemia which is reduced according to the exercise. Furthermore, they exhibited impaired cardio-respiratory fitness.
Holst, Anders G; Saber, Siamak; Houshmand, Massoud
-frequency genetic variants and true monogenetic disease-causing variants. We aimed to screen the genes SCN1B through SCN4B, MOG1, CAV3, and KCND3 for variations in a population of SCN5A negative Danish and Iranian BrS patients, as well as research prior associations using newly released exome data....
Pallisgaard, Jannik L; Gang, Uffe; Kanters, Jørgen K.
and fibrillation. Case Report A 49-year-old previously healthy man was admitted with electrical storm. The patient received direct current (DC) cardioversion shocks and only after intravenous lidocaine did the electrical storm slowly subside with a total of 255 DC shocks administered during the first 24 h after...... admission. He fully recovered and received an implantable cardioverter-defibrillator. Subsequent drug challenge with flecainide revealed type 1 BrS. Conclusions Massive electrical storm can be the first symptom of BrS and the diagnostic ECG changes may be concealed at presentation. Although hundreds of DC...... shocks may be required during initial treatment, full recovery can be achieved....
Calloe, Kirstine; Cordeiro, Jonathan M; Di Diego, José M
of inactivation from 12.6 +/- 3.2 to 20.3 +/- 2.9 ms (n = 7). The total charge carried by I(to) increased by 186% (from 363.9 +/- 40.0 to 1042.0 +/- 103.5 pA x ms/pF, n = 7). In ventricular wedge preparations, NS5806 increased phase 1 and notch amplitude of the action potential in the epicardium......, 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...
Korte, Anna K M; Derde, Lennie; van Wijk, Jeroen; Tjan, David H
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,
Delpón, Eva; Cordeiro, Jonathan M; Núñez, Lucía
KCND3 or KCNQ1. Whole-cell patch clamp studies were performed after 48 hours. Interactions between Kv4.3 and KCNE3 were analyzed in co-immunoprecipitation experiments in human atrial samples. Co-transfection of R99H-KCNE3 with KCNQ1 produced no alteration in current magnitude or kinetics. However, co...
Anderson, J; Akond, M; Kassem, M A; Meksem, K; Kantartzi, S K
The best way to protect yield loss of soybean [Glycine max (L.) Merr.] due to sudden death syndrome (SDS), caused by Fusarium virguliforme (Aoki, O'Donnel, Homma & Lattanzi), is the development and use of resistant lines. Mapping quantitative trait loci (QTL) linked to SDS help developing resistant soybean germplasm through molecular marker-assisted selection strategy. QTL for SDS presented herein are from a high-density SNP-based genetic linkage map of MD 96-5722 (a.k.a 'Monocacy') by 'Spencer' recombinant inbred line using SoySNP6K Illumina Infinium BeadChip genotyping array. Ninety-four F 5:7 lines were evaluated for 2 years (2010 and 2011) at two locations (Carbondale and Valmeyer) in southern Illinois, USA to identify QTL controlling SDS resistance using disease index (DX). Composite interval mapping identified 19 SDS controlling QTL which were mapped on 11 separate linkage group (LG) or chromosomes (Chr) out of 20 LG or Chr of soybean genome. Many of these significant QTL identified in one environment/year were confirmed in another year or environment, which suggests a common genetic effects and modes of the pathogen. These new QTL are useful sources for SDS resistance studies in soybean breeding, complementing previously reported loci.
Ruiz-Robledillo, N; Moya-Albiol, L
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.
Guilherme de Oliveira Band
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.
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.
Jääskeläinen, A; Schwab, U; Kolehmainen, M; Pirkola, J; Järvelin, M-R; Laitinen, J
Breakfast consumption and meal frequencies have been linked to the risk of obesity in youth but their associations with metabolic syndrome (MetS) in young populations are yet to be studied. We examined associations of three meal patterns on weekdays--five meals including breakfast, ≤four meals including breakfast and ≤four meals without breakfast--with overweight/obesity and MetS components in Finnish adolescents. A population-based sample of 16-year-old boys and girls (n = 6247) from the Northern Finland Birth Cohort 1986 was used. Adolescents were clinically examined and dietary data were collected using self-administered questionnaires. Overweight/obesity and MetS features were defined according to the International Obesity Task Force cut-offs and the International Diabetes Federation MetS paediatric criteria and their associations with meal patterns assessed using logistic regression, adjusted separately for early life factors (birth size, maternal health) and later childhood factors (health behaviours, weight status, parental education). After adjustment for early life factors, the adolescents who ate five meals/day were at lower risk for overweight/obesity (OR [95% CI] for boys: 0.47 [0.34, 0.65]; girls: 0.57 [0.41, 0.79]), abdominal obesity (OR [95% CI] for boys: 0.32 [0.22, 0.48]; girls: 0.54 [0.39, 0.75]) and hypertriglyceridaemia (boys only). Adjusting for later childhood factors, the five-meal-a-day pattern was associated with decreased odds of overweight/obesity (OR [95% CI] for boys: 0.41 [0.29, 0.58]; girls: 0.63 [0.45, 0.89]) and abdominal obesity in boys (OR 0.32, 95% CI 0.16, 0.63). Among 16-year-olds, the five-meal-a-day pattern was robustly associated with reduced risks of overweight/obesity in both genders and abdominal obesity in boys. Copyright © 2012 Elsevier B.V. All rights reserved.
Pepene Carmen E
Full Text Available Abstract Background Under-carboxylated osteocalcin (ucOC, the precursor substrate of bone biomarker OC is a potent regulator of energy metabolism by promoting insulin production and adiponectin synthesis and decreasing fat stores. The aim of the present study was to point out the potential role of ucOC in the physiopathology of polycystic ovary syndrome (PCOS, a common disorder defined by the constellation of anovulation, insulinresistance, hyperinsulinemia, obesity and androgen excess. Methods In this prospective case–control investigation, 78 young premenopausal women, i.e. 52 PCOS patients and 26 age- and body mass index (BMI-matched healthy controls, were successively enrolled. Recruitment of PCOS patients was performed according to Androgen Excess-Polycystic Ovary Syndrome (AE-PCOS Society 2006 criteria. All study participants were subjected to clinical examination, whole-body composition assessment and measurements of serum ucOC, OC (1-49, glucose and lipids, insulin, total testosterone (TT, estradiol, sex-hormone binding globulin (SHBG, high-sensitivity C-reactive protein (Hs-CRP and β-CrossLaps. Results BMI-stratified multivariate analysis revealed significantly higher ucOC levels in PCOS vs. controls in lean (p = 0.001 but not overweight and obese study participants (p = 0.456. Notably, a positive correlation between ucOC and TT (p = 0.018, calculated free testosterone (cFT, p = 0.028 and serum insulin (p = 0.036, respectively, was found to be confined to the lean analysis subgroup. Furthermore, in stepwise multiple regression models, β-CrossLaps and cFT were able to predict 46.71% of serum ucOC variability. (1-43/49OC failed to be significantly associated to any PCOS trait. Conclusions Circulating ucOC concentration is related to key endocrine PCOS characteristics in a weight-dependent manner. Within the bone-pancreas loop, high ucOC may favor insulin release in lean hyperandrogenic women to compensate for
Full Text Available Ascher syndrome is a rare, benign skin disorder characterized by a double upper lip, blepharochalasis, and nontoxic enlargement of the thyroid gland. The exact cause is unknown, but it is considered to be a hereditary disease with an autosomal dominant trait. We report here a case of forme fruste Ascher syndrome in a 29-year-old man.
Full Text Available BACKGROUND: The metabolic syndrome (MetS has been known as partly heritable, while the number of genetic studies on MetS and metabolic-related traits among Chinese elderly was limited. METHODS: A cross-sectional analysis was performed among 2 014 aged participants from September 2009 to June 2010 in Beijing, China. An additional longitudinal study was carried out among the same study population from 2001 to 2010. Biochemical profile and anthropometric parameters of all the participants were measured. The associations of 23 SNPs located within 17 candidate genes (MTHFR, PPARγ, LPL, INSIG, TCF7L2, FTO, KCNJ11, JAZF1, CDKN2A/B, ADIPOQ, WFS1, CDKAL1, IGF2BP2, KCNQ1, MTNR1B, IRS1, ACE with overweight and obesity, diabetes, metabolic phenotypes, and MetS were examined in both studies. RESULTS: In this Chinese elderly population, prevalence of overweight, central obesity, diabetes, dyslipidemia, hypertension, and MetS were 48.3%, 71.0%, 32.4%, 75.7%, 68.3% and 54.5%, respectively. In the cross-sectional analyses, no SNP was found to be associated with MetS. Genotype TT of SNP rs4402960 within the gene IGF2BP2 was associated with overweight (odds ratio (OR = 0.479, 95% confidence interval (CI: 0.316-0.724, p = 0.001 and genotype CA of SNP rs1801131 within the gene MTHFR was associated with hypertension (OR = 1.560, 95% CI: 1.194-2.240, p = 0.001. However, these associations were not observed in the longitudinal analyses. CONCLUSIONS: The associations of SNP rs4402960 with overweight as well as the association of SNP rs1801131 with hypertension were found to be statistically significant. No SNP was identified to be associated with MetS in our study with statistical significance.
Gunia, M; David, I; Hurtaud, J; Maupin, M; Gilbert, H; Garreau, H
Selection for disease resistance is a powerful way to improve the health status of herds and to reduce the use of antibiotics. The objectives of this study were to estimate 1) the genetic parameters for simple visually assessed disease syndromes and for a composite trait of resistance to infectious disease including all syndromes and 2) their genetic correlations with production traits in a rabbit population. Disease symptoms were recorded in the selection herds of 2 commercial paternal rabbit lines during weighing at the end of the test (63 and 70 d of age, respectively). Causes of mortality occurring before these dates were also recorded. Seven disease traits were analyzed: 3 elementary traits visually assessed by technicians on farm (diarrhea, various digestive syndromes, and respiratory syndromes), 2 composite traits (all digestive syndromes and all infectious syndromes), and 2 mortality traits (digestive mortality and infectious mortality). Each animal was assigned only 1 disease trait, corresponding to the main syndrome ( = 153,400). Four production traits were also recorded: live weight the day before the end of test on most animals ( = 137,860) and cold carcass weight, carcass yield, and perirenal fat percentage of the carcass on a subset of slaughtered animals ( = 13,765). Records on both lines were analyzed simultaneously using bivariate linear animal models after validation of consistency with threshold models applied to logit-transformed traits. The heritabilities were low for disease traits, from 0.01 ± 0.002 for various digestive syndromes to 0.04 ± 0.004 for infectious mortality, and moderate to high for production traits. The genetic correlations between digestive syndromes were high and positive, whereas digestive and respiratory syndromes were slightly negatively correlated. The genetic correlations between the composite infectious disease trait and digestive or respiratory syndromes were moderate. Genetic correlations between disease and
Adviento, Brigid; Corbin, Iris L; Widjaja, Felicia; Desachy, Guillaume; Enrique, Nicole; Rosser, Tena; Risi, Susan; Marco, Elysa J; Hendren, Robert L; Bearden, Carrie E; Rauen, Katherine A; Weiss, Lauren A
Mutations in Ras/mitogen-activated protein kinase (Ras/MAPK) pathway genes lead to a class of disorders known as RASopathies, including neurofibromatosis type 1 (NF1), Noonan syndrome (NS), Costello syndrome (CS), and cardio-facio-cutaneous syndrome (CFC). Previous work has suggested potential genetic and phenotypic overlap between dysregulation of Ras/MAPK signalling and autism spectrum disorders (ASD). Although the literature offers conflicting evidence for association of NF1 and autism, there has been no systematic evaluation of autism traits in the RASopathies as a class to support a role for germline Ras/MAPK activation in ASDs. We examined the association of autism traits with NF1, NS, CS and CFC, comparing affected probands with unaffected sibling controls and subjects with idiopathic ASDs using the qualitative Social Communication Questionnaire (SCQ) and the quantitative Social Responsiveness Scale (SRS). Each of the four major RASopathies showed evidence for increased qualitative and quantitative autism traits compared with sibling controls. Further, each RASopathy exhibited a distinct distribution of quantitative social impairment. Levels of social responsiveness show some evidence of correlation between sibling pairs, and autism-like impairment showed a male bias similar to idiopathic ASDs. Higher prevalence and severity of autism traits in RASopathies compared to unaffected siblings suggests that dysregulation of Ras/MAPK signalling during development may be implicated in ASD risk. Evidence for sex bias and potential sibling correlation suggests that autism traits in the RASopathies share characteristics with autism traits in the general population and clinical ASD population and can shed light on idiopathic ASDs.
Vega,Julián; Enríquez,Andrés; Vergara,Ismael; Frangini,Patricia; Baeza,Mariana; Millapán,Islandia; González,Rolando
We report a 22-year-old male who experienced several episodes of syncope within a timeframe of few hours. In the emergency room, multiple ventricular fibrillation episodes where documented along with a type 1 Brugada ECG pattern. Isoproterenol in continuous infusion was started, normalizing the ECG and avoiding further arrhythmia recurrences. The patient was implanted with an automated defibrillator and discharged 3 days after admission.
Ross, Samantha Barratt; Fraser, Stuart T; Semsarian, Christopher
Inherited arrhythmia syndromes, including familial long QT syndrome, catecholaminergic polymorphic ventricular tachycardia, and Brugada syndrome, can cause life-threatening arrhythmias and are responsible for a significant proportion of sudden deaths in the young. Identification of genetic mutations and pathophysiological changes that underlie disease development can inform clinical practice and guide novel drug development. However, disease mechanisms in a large number of patients remain elusive and pharmacologic treatment is suboptimal, so many patients rely on implantable cardioverter-defibrillator therapy. Induced pluripotent stem cell models of disease facilitate analysis of disease mechanisms in patient-specific cardiomyocytes, overcoming limitations of animal models and human tissue restrictions. This review outlines how studies using induced pluripotent stem cell-derived cardiomyocytes are contributing to our understanding of the mechanisms that underpin disease pathogenesis and their potential to facilitate new pharmacologic therapies and personalized medicine. Copyright © 2017 Heart Rhythm Society. Published by Elsevier Inc. All rights reserved.
Bing, C; Ambye, L; Fenger, M
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....
Cordeiro, Jonathan M; Marieb, Mark; Pfeiffer, Ryan
S in which loss of function is caused by accelerated inactivation of I(Ca). The proband, a 32 year old male, displayed a Type I ST segment elevation in two right precordial ECG leads following a procainamide challenge. EP study was positive with induction of polymorphic VT/VF. Interrogation of implanted ICD...... significantly faster in mutant channels between 0 and + 20 mV. Action potential voltage clamp experiments showed that total charge was reduced by almost half compared to WT. We report the first BrS mutation in CaCNB2b resulting in accelerated inactivation of L-type calcium channel current. Our results suggest...
Carnicer, Jofre; Barbeta, Adrià; Sperlich, Dominik; Coll, Marta; Peñuelas, Josep
Recent large-scale studies of tree growth in the Iberian Peninsula reported contrasting positive and negative effects of temperature in Mediterranean angiosperms and conifers. Here we review the different hypotheses that may explain these trends and propose that the observed contrasting responses of tree growth to temperature in this region could be associated with a continuum of trait differences between angiosperms and conifers. Angiosperm and conifer trees differ in the effects of phenology in their productivity, in their growth allometry, and in their sensitivity to competition. Moreover, angiosperms and conifers significantly differ in hydraulic safety margins, sensitivity of stomatal conductance to vapor-pressure deficit (VPD), xylem recovery capacity or the rate of carbon transfer. These differences could be explained by key features of the xylem such as non-structural carbohydrate content (NSC), wood parenchymal fraction or wood capacitance. We suggest that the reviewed trait differences define two contrasting ecophysiological strategies that may determine qualitatively different growth responses to increased temperature and drought. Improved reciprocal common garden experiments along altitudinal or latitudinal gradients would be key to quantify the relative importance of the different hypotheses reviewed. Finally, we show that warming impacts in this area occur in an ecological context characterized by the advance of forest succession and increased dominance of angiosperm trees over extensive areas. In this context, we examined the empirical relationships between the responses of tree growth to temperature and hydraulic safety margins in angiosperm and coniferous trees. Our findings suggest a future scenario in Mediterranean forests characterized by contrasting demographic responses in conifer and angiosperm trees to both temperature and forest succession, with increased dominance of angiosperm trees, and particularly negative impacts in pines.
Carnicer, Jofre; Barbeta, Adrià; Sperlich, Dominik; Coll, Marta; Peñuelas, Josep
Recent large-scale studies of tree growth in the Iberian Peninsula reported contrasting positive and negative effects of temperature in Mediterranean angiosperms and conifers. Here we review the different hypotheses that may explain these trends and propose that the observed contrasting responses of tree growth to temperature in this region could be associated with a continuum of trait differences between angiosperms and conifers. Angiosperm and conifer trees differ in the effects of phenology in their productivity, in their growth allometry, and in their sensitivity to competition. Moreover, angiosperms and conifers significantly differ in hydraulic safety margins, sensitivity of stomatal conductance to vapor-pressure deficit (VPD), xylem recovery capacity or the rate of carbon transfer. These differences could be explained by key features of the xylem such as non-structural carbohydrate content (NSC), wood parenchymal fraction or wood capacitance. We suggest that the reviewed trait differences define two contrasting ecophysiological strategies that may determine qualitatively different growth responses to increased temperature and drought. Improved reciprocal common garden experiments along altitudinal or latitudinal gradients would be key to quantify the relative importance of the different hypotheses reviewed. Finally, we show that warming impacts in this area occur in an ecological context characterized by the advance of forest succession and increased dominance of angiosperm trees over extensive areas. In this context, we examined the empirical relationships between the responses of tree growth to temperature and hydraulic safety margins in angiosperm and coniferous trees. Our findings suggest a future scenario in Mediterranean forests characterized by contrasting demographic responses in conifer and angiosperm trees to both temperature and forest succession, with increased dominance of angiosperm trees, and particularly negative impacts in pines. PMID
Popovski, ZT; Tanaskovska, B; Miskoska-Milevska, E; Andonov, S; Domazetovska, S
Abstract Stress syndrome is usually caused by a mutation in the ryanodine receptor gene (ryr1) and it is widely studied in humans and swine populations. The protein product of this gene plays a crucial role in the regulation of calcium transport in muscle cells. A G>T mutation in the human ryr1 gene, which results in the replacement of a conserved arginine at position 614 where a leucine occurs at the same position as the previously identified Arg?Cys mutation reported in all cases of porcine...
... Educational Resources (7 links) American Heart Association: Common Types of Heart Defects Disease InfoSearch: Holt-Oram syndrome MalaCards: holt-oram syndrome March of Dimes: Congenital Heart Defects My46 Trait Profile Nemours Foundation: Congenital ...
Full Text Available Objective: The objective was to provide a brief history of J wave syndromes and to summarize our current understanding of their molecular, ionic, cellular mechanisms, and clinical features. We will also discuss the existing debates and further direction in basic and clinical research for J wave syndromes. Data Sources: The publications on key words of "J wave syndromes", "early repolarization syndrome (ERS", "Brugada syndrome (BrS" and "ST-segment elevation myocardial infarction (STEMI" were comprehensively reviewed through search of the PubMed literatures without restriction on the publication date. Study Selection: Original articles, reviews and other literatures concerning J wave syndromes, ERS, BrS and STEMI were selected. Results: J wave syndromes were firstly defined by Yan et al. in a Chinese journal a decade ago, which represent a spectrum of variable phenotypes characterized by appearance of prominent electrocardiographic J wave including ERS, BrS and ventricular fibrillation (VF associated with hypothermia and acute STEMI. J wave syndromes can be inherited or acquired and are mechanistically linked to amplification of the transient outward current (I to -mediated J waves that can lead to phase 2 reentry capable of initiating VF. Conclusions: J wave syndromes are a group of newly highlighted clinical entities that share similar molecular, ionic and cellular mechanism and marked by amplified J wave on the electrocardiogram and a risk of VF. The clinical challenge ahead is to identify the patients with J wave syndromes who are at risk for sudden cardiac death and determine the alternative therapeutic strategies to reduce mortality.
Losh, Molly; Klusek, Jessica; Martin, Gary E; Sideris, John; Parlier, Morgan; Piven, Joseph
Substantial phenotypic overlap exists between fragile X syndrome (FXS) and autism, suggesting that FMR1 (the gene causing FXS) poses a significant risk for autism. Cross-population comparisons of FXS and autism therefore offer a potentially valuable method for refining the range of phenotypes associated with variation in FMR1. This study adopted a broader phenotype approach, focusing on parents who are at increased genetic liability for autism or FXS. Women who were carriers of FMR1 in its premutation state were compared with mothers of individuals with autism, and controls in an attempt to determine whether subtle features of the broad autism phenotype may express at elevated rates among FMR1 premutation carriers. The principal personality and language features comprising the broad autism phenotype (i.e., rigid and aloof personality, and particular patterns of pragmatic language use) were assessed among 49 premutation carriers who were mothers of individuals with FXS, 89 mothers of individuals with autism, and 23 mothers of typically developing individuals. Relative to controls, the autism and premutation parent groups showed elevated rates of certain personality and language characteristics of the broad autism phenotype. Findings suggest partially overlapping personality and language profiles among autism and premutation parent groups, with rigid personality style and patterns of pragmatic language use emerging as features most clearly shared between groups. These results provide further evidence for the overlap of autism and FXS, and may implicate FMR1 in some of the subtle features comprising the broad autism phenotype. Copyright © 2012 Wiley Periodicals, Inc.
Wang, H.; Harrison, S. P.; Prentice, I. C.; Peng, C.; Yang, Y.
A widely accepted core set of leaf traits describes key aspects of plant function including the coupling among carbon, nitrogen and water cycles at the leaf, plant and ecosystem scales. Our current research focuses on two questions: (1) what dimensions of correlated variation among traits apply across all vascular plants irrespective of environment; (2) how, and to what extent, can variations in community mean values of leaf traits be predicted along environmental gradients? Based on a large quantitative trait data set covering the major environmental gradients across China, we are tackling these questions via two complementary approaches: multivariate analysis of trait-trait, trait-site, and trait-environment relationships, and the development of conceptual models and testable hypotheses for the dependencies of each trait on other traits and/or specific environmental predictors. Preliminary multivariate analyses suggest the existence of at least two independent axes of variation in leaf traits, and show robust relationships between trait syndromes and growing-season climate variables. A minimal conceptual model then considers nitrogen per unit leaf area (Narea) as a function of leaf mass per unit area (LMA) and carboxylation capacity (Vcmax); LMA as a function of irradiance, temperature and water and/or nutrient stress; Vcmax as a function of irradiance, temperature and the long-term ci:ca ratio (indexed by δ13C); and the ci:ca ratio as a function of vapour pressure deficit, temperature and atmospheric pressure. Each of these dependencies has support from observations, pointing the way towards a comprehensive set of equations to predict community-mean values of core traits in next-generation terrestrial ecosystem models.
Fleeson, William; Jayawickreme, Eranda
Personality researchers should modify models of traits to include mechanisms of differential reaction to situations. Whole Trait Theory does so via five main points. First, the descriptive side of traits should be conceptualized as density distributions of states. Second, it is important to provide an explanatory account of the Big 5 traits. Third, adding an explanatory account to the Big 5 creates two parts to traits, an explanatory part and a descriptive part, and these two parts should be ...
Fleeson, William; Jayawickreme, Eranda
Personality researchers should modify models of traits to include mechanisms of differential reaction to situations. Whole Trait Theory does so via five main points. First, the descriptive side of traits should be conceptualized as density distributions of states. Second, it is important to provide an explanatory account of the Big 5 traits. Third, adding an explanatory account to the Big 5 creates two parts to traits, an explanatory part and a descriptive part, and these two parts should be recognized as separate entities that are joined into whole traits. Fourth, Whole Trait Theory proposes that the explanatory side of traits consists of social-cognitive mechanisms. Fifth, social-cognitive mechanisms that produce Big-5 states should be identified.
Fleeson, William; Jayawickreme, Eranda
Personality researchers should modify models of traits to include mechanisms of differential reaction to situations. Whole Trait Theory does so via five main points. First, the descriptive side of traits should be conceptualized as density distributions of states. Second, it is important to provide an explanatory account of the Big 5 traits. Third, adding an explanatory account to the Big 5 creates two parts to traits, an explanatory part and a descriptive part, and these two parts should be recognized as separate entities that are joined into whole traits. Fourth, Whole Trait Theory proposes that the explanatory side of traits consists of social-cognitive mechanisms. Fifth, social-cognitive mechanisms that produce Big-5 states should be identified. PMID:26097268
The sudden infant death syndrome (SIDS) causes the sudden death of an apparently healthy infant, which remains unexplained despite a thorough investigation, including the performance of a complete autopsy. The triple risk model for the pathogenesis of SIDS points to the coincidence of a vulnerable infant, a critical developmental period, and an exogenous stressor. Primary electrical diseases of the heart, which may cause lethal arrhythmias as a result of dysfunctioning cardiac ion channels (“cardiac ion channelopathies”) and are not detectable during a standard postmortem examination, may create the vulnerable infant and thus contribute to SIDS. Evidence comes from clinical correlations between the long QT syndrome and SIDS as well as genetic analyses in cohorts of SIDS victims (“molecular autopsy”), which have revealed a large number of mutations in ion channel-related genes linked to inheritable arrhythmogenic syndromes, in particular the long QT syndrome, the short QT syndrome, the Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia. Combining data from population-based cohort studies, it can be concluded that at least one out of five SIDS victims carries a mutation in a cardiac ion channel-related gene and that the majority of these mutations are of a known malignant phenotype. PMID:23304551
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
Thomas, Howard; Ougham, Helen
Stay-green (sometimes staygreen) refers to the heritable delayed foliar senescence character in model and crop plant species. In a cosmetic stay-green, a lesion interferes with an early step in chlorophyll catabolism. The possible contribution of synthesis to chlorophyll turnover in cosmetic stay-greens is considered. In functional stay-greens, the transition from the carbon capture period to the nitrogen mobilization (senescence) phase of canopy development is delayed, and/or the senescence syndrome proceeds slowly. Yield and composition in high-carbon (C) crops such as cereals, and in high-nitrogen (N) species such as legumes, reflect the source-sink relationship with canopy C capture and N remobilization. Quantitative trait loci studies show that functional stay-green is a valuable trait for improving crop stress tolerance, and is associated with the domestication syndrome in cereals. Stay-green variants reveal how autumnal senescence and dormancy are coordinated in trees. The stay-green phenotype can be the result of alterations in hormone metabolism and signalling, particularly affecting networks involving cytokinins and ethylene. Members of the WRKY and NAC families, and an ever-expanding cast of additional senescence-associated transcription factors, are identifiable by mutations that result in stay-green. Empirical selection for functional stay-green has contributed to increasing crop yields, particularly where it is part of a strategy that also targets other traits such as sink capacity and environmental sensitivity and is associated with appropriate crop management methodology. The onset and progress of senescence are phenological metrics that show climate change sensitivity, indicating that understanding stay-green can contribute to the design of appropriate crop types for future environments. © The Author 2014. Published by Oxford University Press on behalf of the Society for Experimental Biology. All rights reserved. For permissions, please email
Sutin, Angelina R; Costa, Paul T; Uda, Manuela; Ferrucci, Luigi; Schlessinger, David; Terracciano, Antonio
The prevalence of metabolic syndrome has paralleled the sharp increase in obesity. Given its tremendous physical, emotional, and financial burden, it is of critical importance to identify who is most at risk and the potential points of intervention. Psychological traits, in addition to physiological and social risk factors, may contribute to metabolic syndrome. The objective of the present research is to test whether personality traits are associated with metabolic syndrome in a large community sample. Participants (N = 5,662) from Sardinia, Italy, completed a comprehensive personality questionnaire, the NEO-PI-R, and were assessed on all components of metabolic syndrome (waist circumference, triglycerides, high-density lipoprotein cholesterol, blood pressure, and fasting glucose). Logistic regressions were used to predict metabolic syndrome from personality traits, controlling for age, sex, education, and current smoking status. Among adults over age 45 (n = 2,419), Neuroticism and low Agreeableness were associated with metabolic syndrome, whereas high Conscientiousness was protective. Individuals who scored in the top 10% on Conscientiousness were approximately 40% less likely to have metabolic syndrome (OR = 0.61, 95% CI = 0.41-0.92), whereas those who scored in the lowest 10% on Agreeableness were 50% more likely to have it (OR = 1.53, 95% CI = 1.09-2.16). At the facet level, traits related to impulsivity and hostility were the most strongly associated with metabolic syndrome. The present research indicates that those with fewer psychological resources are more vulnerable to metabolic syndrome and suggests a psychological component to other established risk factors.
Kanters, Jørgen K.; Yuan, Lei; Hedley, Paula L
interval. The proband presented with an aborted cardiac arrest, and his mother died suddenly and unexpectedly at the age of 65. Flecainide treatment revealed coved ST elevation in all mutation carriers. Electrophysiological investigations of the mutant in HEK293 cells indicated a reduced peak current...
Full Text Available The short QT syndrome (SQTS is a recently described genetic arrhythmogenic disorder, characterized by abnormally short QT intervals on surface electrocardiogram (ECG and a high incidence of sudden death (SD during life, including the first months of life. The inheritance of SQTS is autosomal dominant, with genetic heterogeneity. Gain-of-function mutations in 3 genes encoding potassium channels have been associated to the disease: KCNH2 encoding IKr (SQT1, KCNQ1 encoding IKs (SQT2, and KCNJ2 encoding IK1 (SQT3. Loss-of-function mutations in 3 genes encoding the cardiac L-type calcium channel, CACNA1C, CACNB2b and CACNA2D1 may underlie a mixed phenotype of Brugada pattern ECG (or non-specific repolarization changes in case of CACNA2D1 and shorter than normal QT intervals. Clinical presentation is often severe, as cardiac arrest represents the first clinical presentation in most subjects. Moreover, often a noticeable family history of cardiac SD is present. Atrial fibrillation may be observed, also in young individuals. At electrophysiological study, short atrial and ventricular refractory periods are found, and atrial and ventricular fibrillation are easily induced by programmed electrical stimulation. The outcome of patients with SQTS becomes relatively safe when they are identified and treated. Currently, the suggested therapeutic strategy is an implantable cardioverter- defibrillator (ICD in patients with personal history of aborted SD or syncope. In asymptomatic adult patients from highly symptomatic families and in newborn children pharmacological treatment with hydroquinidine, which has been shown to prolong the QT interval and reduce the inducibility of ventricular arrhythmias, may be proposed.
The paper consists of three parts. Part 1: Definition of Syndromes. Focus is given to craniofacial syndromes in which abnormal traits in the dentition are associated symptoms. In the last decade, research has concentrated on phenotype, genotype, growth, development, function, and treatment. Part ...
Angermeier, Paul L.; Frimpong, Emmanuel A.
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.
... Disease InfoSearch: Cornelia de Lange Syndrome (CdLS) Genetics Education Materials for School Success (GEMSS) MalaCards: cornelia de lange syndrome 1 My46 Trait Profile Orphanet: Cornelia de Lange syndrome UC Davis Children's Hospital Patient Support and Advocacy Resources (5 links) CdLS ...
... Websites About Us Information For… Media Policy Makers Sickle Cell Trait Language: English (US) Español (Spanish) Recommend on Facebook Tweet Share Compartir Get Screened for Sickle Cell Trait Did you know there’s more than one way ...
Wickett, Amanda; Essman, William; Beck-Jennings, Josephine; Davis, Louanne; McIlvried, John; Lysaker, Paul H
Unusually high levels of Cluster B and C personality traits have been observed in schizophrenia. While these have been linked to poorer function, less clear is the association of these personality traits with symptoms and service utilization. To examine this issue, 46 participants with schizophrenia or schizoaffective disorder were administered the Millon Clinical Multiaxial Inventory, Third Edition, and the Positive and Negative Syndrome Scale, and an inventory was taken of medical and psychiatric service utilization. Two sets of multiple regression analyses using Cluster B and C traits to predict treatment utilization and symptoms revealed that emotional discomfort symptoms were significantly related to level of borderline traits. Higher levels of positive symptoms were linked with more avoidant traits and fewer dependent traits. Higher levels of negative symptoms were linked with greater avoidant traits. Service utilization was predicted by borderline, antisocial, and avoidant traits. Implications for rehabilitation and treatment are discussed.
Hyperserotonemia; Serotonergic syndrome; Serotonin toxicity; SSRI - serotonin syndrome; MAO - serotonin syndrome ... brain area. For example, you can develop this syndrome if you take migraine medicines called triptans together ...
El-Bizri, Nesrine; Xie, Cheng; Liu, Lynda; Limberis, James; Krause, Michael; Hirakawa, Ryoko; Nguyen, Steven; Tabuena, Dennis R; Belardinelli, Luiz; Kahlig, Kristopher M
Eleclazine (GS-6615) is a sodium channel blocker designed to improve the selectivity for cardiac late Na(+) current (INa) over peak INa. The goals of this study were to investigate the inhibition of late INa by eleclazine using a sample of long QT syndrome type 3 (LQT3) and overlap LQT3/Brugada syndrome mutant channels; to compare the apparent binding rates for eleclazine with those for other class 1 antiarrhythmic agents; and to investigate the binding site. Wild-type human cardiac voltage-gated sodium channel (hNaV1.5) and 21 previously reported variants were studied using patch clamp recordings from a heterologous expression system. Eleclazine inhibited anemone toxin II-enhanced late INa from wild-type hNaV1.5 with a drug concentration that causes 50% block of 0.62 ± 0.12 μM (84-fold selectivity over peak INa). The drug concentration that causes 50% block of eleclazine to inhibit the enhanced late INa from LQT3 mutant channels ranged from 0.33 to 1.7 μM. At predicted therapeutic concentrations, eleclazine and ranolazine inhibited peak INa to a similar degree as assessed with 4 overlap LQT3/Brugada syndrome mutations. Eleclazine was found to interact with hNaV1.5 significantly faster than ranolazine and 6 other class 1 antiarrhythmic agents. Engineered mutations (F1760A/Y1767A) located within the local anesthetic binding site decreased the inhibition of late INa and peak INa by eleclazine. At predicted therapeutic concentrations, eleclazine elicits potent inhibition of late INa across a cohort of NaV1.5 mutant channels. These properties are consistent with a class 1b antiarrhythmic agent that associates with unusually rapid binding/unbinding rates. Copyright © 2017 Heart Rhythm Society. Published by Elsevier Inc. All rights reserved.
Sutin, Angelina R; Zonderman, Alan B; Uda, Manuela; Deiana, Barbara; Taub, Dennis D; Longo, Dan L; Ferrucci, Luigi; Schlessinger, David; Cucca, Francesco; Terracciano, Antonio
Personality traits related to high neuroticism and low conscientiousness are consistently associated with obesity. Hormones implicated in appetite and metabolism, such as leptin, may also be related to personality and may contribute to the association between these traits and obesity. The present research examined the association between leptin and Five Factor Model personality traits. A total of 5214 participants (58% women; mean [standard deviation] age = 44.42 [15.93] years; range, 18-94 years) from the SardiNIA project completed the Revised NEO Personality Inventory, a comprehensive measure of personality traits, and their blood samples were assayed for leptin. As expected, lower conscientiousness was associated with higher circulating levels of leptin (r = -0.05, p obesity, whereas the relation between a proneness to anxiety and depression (high neuroticism) and obesity may be mediated through other physiological and/or behavioral pathways.
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.
Jamie S. Churchyard
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.
Li, Xuefei; Pei, Kequan; Kéry, Marc; Niklaus, Pascal A; Schmid, Bernhard
Functional traits, properties of organisms correlated with ecological performance, play a central role in plant community assembly and functioning. To some extents, functional traits vary in concert, reflecting fundamental ecological strategies. While "trait syndromes" characteristic of e.g. fast-growing, early-successional vs. competitive, late-successional species are recognized in principle, less is known about the environmental and genetic factors at the source of trait variation and covariation within plant communities. We studied the three leaf traits leaf half-life (LHL), leaf mass per area (LMA) and nitrogen concentration in green leaves (Ngreen) and the wood trait wood density (WD) in 294 individuals belonging to 45 tree or shrub species in a Chinese subtropical forest from September 2006 to January 2009. Using multilevel ANOVA and decomposition of sums of products, we estimated the amount of trait variation and covariation among species (mainly genetic causes), i.e. plant functional type (deciduous vs. evergreen species), growth form (tree vs. shrub species), family/genus/species differences, and within species (mainly environmental causes), i.e. individual and season. For single traits, the variation between functional types and among species within functional types was large, but only LMA and Ngreen varied significantly among families and thus showed phylogenetic signal. Trait variation among individuals within species was small, but large temporal variation due to seasonal effects was found within individuals. We did not find any trait variation related to soil conditions underneath the measured individuals. For pairs of traits, variation between functional types and among species within functional types was large, reflecting a strong evolutionary coordination of the traits, with LMA, LHL and WD being positively correlated among each other and negatively with Ngreen. This integration of traits was consistent with a putative stem-leaf economics spectrum
Horbelt, Carlton V
The general population expects dentists to be well-versed in the typical and atypical orofacial characteristics of all potential patients. As a result, dentists must possess a reasonable amount of knowledge concerning the physical and intraoral traits associated with developmental disorders such as those associated with Robinow syndrome, Cockayne syndrome, and Pfeiffer syndrome. None of the physical, neurological, or oral anomalies discussed in this column present insurmountable barriers to providing dental care. Dental techniques and procedures performed on patients with any of these syndromes will be identical or very similar to those done on any other patient.
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
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
Juan K. Urrea
Full Text Available El síndrome de Brugada (SB es una enfermedad arritmogénica caracterizada por un patrón electrocardiográfico en el que hay una elevación del segmento ST en las derivaciones V1 a V3, y un patrón de bloqueo de la rama derecha. Es una patología poco frecuente en nuestro medio, con mayor prevalencia en países como: el Japón y en el suroeste de Asia. Su etiología es multifactorial y aún es tema de debate. Los diagnósticos diferenciales abarcan: el síndrome coronario agudo, el bloqueo de rama derecha y la pericarditis. A continuación se describe el caso con un patrón electrocardiográfico típico que se manifiesta con síncope y fibrilación auricular.
Petrosini, Laura; Cutuli, Debora; Picerni, Eleonora; Laricchiuta, Daniela
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.
Cardiac Arrest; Long QT Syndrome; Brugada Syndrome; Catecholaminergi Polymorphic Ventricular Tachycardia; Idiopathic VentricularFibrillation; Early Repolarization Syndrome; Arrhythmogenic Right Ventricular Cardiomyopathy
Sutin, Angelina R.; Zonderman, Alan B.; Uda, Manuela; Deiana, Barbara; Taub, Dennis D.; Longo, Dan L.; Ferrucci, Luigi; Schlessinger, David; Cucca, Francesco; Terracciano, Antonio
Objective Personality traits related to high Neuroticism and low Conscientiousness are consistently associated with obesity. Hormones implicated in appetite and metabolism, such as leptin, may also be related to personality and may contribute to the association between these traits and obesity. The present research examined the association between leptin and Five Factor Model personality traits. Methods A total of 5,214 participants (58% female; Mean age = 44.42 years, SD = 15.93, range 18 to 94) from the SardiNIA project completed the Revised NEO Personality Inventory, a comprehensive measure of personality traits, and their blood samples were assayed for leptin. Results As expected, lower Conscientiousness was associated with higher circulating levels of leptin (r=−.05, p<.001), even after controlling for body mass index, waist circumference, or inflammatory markers (r=−.05, p<.001). Neuroticism, in contrast, was unrelated to leptin (r=.01, p=.31). Conclusions Individuals who are impulsive and lack discipline (low Conscientiousness) may develop leptin resistance, which could be one factor that contributes to obesity, whereas the relation between a proneness to anxiety and depression (high Neuroticism) and obesity may be mediated through other physiological and/or behavioral pathways. PMID:23697464
Hypercortisolism; Cortisol excess; Glucocorticoid excess - Cushing syndrome ... The most common cause of Cushing syndrome is taking too much ... called exogenous Cushing syndrome . Prednisone, dexamethasone, ...
Bezzina, Connie; Barc, Julien; Mizusawa, Yuka
) and near the HEY2 gene (rs9388451). Independent replication confirmed both signals (meta-analyses: rs10428132, P = 1.0 × 10(-68); rs9388451, P = 5.1 × 10(-17)) and identified one additional signal in SCN5A (at 3p21; rs11708996, P = 1.0 × 10(-14)). The cumulative effect of the three loci on disease...
Kenitz, Kasia; Visser, Andre; Mariani, Patrizio
acquisition and photosynthesis, it also depends on grazing which couples feeding and motility traits across trophic guilds. Despite interannual variations in the species dominating the protist plankton community, the seasonal trait distribution reveals robust and repeatable seasonal patterns, changing between...... succession and shows how the physical environment controls the vertical structure of plankton communities, where ambush feeders exhibit a preference for greater depths during summer. We characterize the seasonal succession as trophic trait coupling and conjecture that this coupling leads to a trophic trait...... cascade where successive trophic levels alternate in their expression of activity traits further up in the food chain...
... Frequently Asked Questions Español Condiciones Chinese Conditions Duane Syndrome En Español Read in Chinese What is Duane Syndrome? Duane syndrome, also called Duane retraction syndrome (DRS), ...
De Toni-Fanconi syndrome ... Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown. Common causes of Fanconi syndrome in ...
Rutter, Martin K; Sullivan, Lisa M; Fox, Caroline S; Wilson, Peter W F; Nathan, David M; Vasan, Ramachandran S; D'Agostino, Ralph B; Meigs, James B
Multiple abnormal metabolic traits are found together or "cluster" within individuals more often than is predicted by chance. The individual and combined role of adiposity and insulin resistance (IR) on metabolic trait clustering is uncertain. We tested the hypothesis that change in trait clustering is a function of both baseline level and change in these measures. In 2616 nondiabetic Framingham Offspring Study participants, body mass index (BMI) and fasting insulin were related to a within-person 7-year change in a trait score of 0-4 Adult Treatment Panel III metabolic syndrome traits (hypertension, high triglycerides, low high-density lipoprotein cholesterol, hyperglycemia). At baseline assessment, mean trait score was 1.4 traits, and 7-year mean (SEM) change in trait score was +0.25 (0.02) traits, Pfasting insulin were similarly related to trait score change. In models adjusted for age-sex-baseline cluster score, 7-year change in trait score was significantly related to both a 1-quintile difference in baseline BMI (0.07 traits) and fasting insulin (0.18 traits), and to both a 1-quintile 7-year increase in BMI (0.21 traits) and fasting insulin (0.18 traits). Change in metabolic trait clustering was significantly associated with baseline levels and changes in both BMI and fasting insulin, highlighting the importance of both obesity and IR in the clustering of metabolic traits.
Petrides, K V; Vernon, Philip A; Schermer, Julie Aitken; Veselka, Livia
This study presents the first behavioral genetic investigation of the relationships between trait emotional intelligence (trait EI or trait emotional self-efficacy) and the Dark Triad traits of narcissism, Machiavellianism, and psychopathy. In line with trait EI theory, the construct correlated positively with narcissism, but negatively with the other two traits. Generally, the correlations were consistent across the 4 factors and 15 facets of the construct. Cholesky decomposition analysis revealed that the phenotypic associations were primarily due to correlated genetic factors and secondarily due to correlated nonshared environmental factors, with shared environmental factors being nonsignificant in all cases. Results are discussed from the perspective of trait EI theory with particular reference to the issue of adaptive value.
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...
Andersson, Lisa S.
Assigning function to genes is essential for a better understanding of biological systems. To date, approximately half of the genes in the vertebrate genome have known function. Domestic animals are a rich source for trait mapping and in this thesis we have mapped three distinct equine phenotypes. The result provides increased knowledge regarding gene function and importantly, practical implications for horse welfare. In paper I and IV, we confirm that Equine Multiple Congenita...
Endler, N S; Kocovski, N L
State and trait anxiety theory and assessment are reviewed. The person (trait anxiety) and the situation are important in determining levels of state anxiety. The facet of trait anxiety and the stressful situation must be congruent in order to evoke increases in state anxiety. The multidimensional interaction model is reviewed and empirical research is presented. A discussion of anxiety viewed in a dimensional versus a categorical conceptualization is presented. Misconceptions regarding the multidimensionality of trait anxiety are discussed. Finally, it is concluded that anxiety should be viewed as a dimensional construct and that the multidimensionality of state and trait anxiety should be considered in both theory and assessment.
Jelsig, Anne Marie; Qvist, Niels; Brusgaard, Klaus
Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as ...
Gray, A; Stewart, I; Tenesa, A
The Genome-wide Complex Trait Analysis (GCTA) software package can quantify the contribution of genetic variation to phenotypic variation for complex traits. However, as those datasets of interest continue to increase in size, GCTA becomes increasingly computationally prohibitive. We present an adapted version, Advanced Complex Trait Analysis (ACTA), demonstrating dramatically improved performance. We restructure the genetic relationship matrix (GRM) estimation phase of the code and introduce the highly optimized parallel Basic Linear Algebra Subprograms (BLAS) library combined with manual parallelization and optimization. We introduce the Linear Algebra PACKage (LAPACK) library into the restricted maximum likelihood (REML) analysis stage. For a test case with 8999 individuals and 279,435 single nucleotide polymorphisms (SNPs), we reduce the total runtime, using a compute node with two multi-core Intel Nehalem CPUs, from ∼17 h to ∼11 min. The source code is fully available under the GNU Public License, along with Linux binaries. For more information see http://www.epcc.ed.ac.uk/software-products/acta. email@example.com Supplementary data are available at Bioinformatics online.
Kavamura, Maria Ines; Peres, Clovis de Araujo [UNIFESP; Alchorne,Maurício Mota de Avelar; Brunoni, Decio [UNIFESP
Controversy exists concerning the delineation of cardiofaciocutaneous syndrome (CFC). Many authors have attempted to establish syndrome traits for CFC, but to date none are pathognomonic or obligatory. We have created a clinical and objective method, called the CFC index, for CFC diagnosis. This method also differentiates CFC from Noonan syndrome and Costello syndrome, CFC's main differential diagnosis. We propose the use of the CFC index for the confirmation of CFC diagnosis and to different...
Song, Yun-Mi; Sung, Joohon; Lee, Kayoung
We evaluated the association between changes in adiposity traits including anthropometric and fat mass indicators and changes in metabolic syndrome traits including metabolic syndrome clustering and individual components over time. We also assessed the shared genetic and environmental correlations between the two traits. Participants were 284 South Korean twin individuals and 279 nontwin family members had complete data for changes in adiposity traits and metabolic syndrome traits of the Healthy Twin study. Mixed linear model and bivariate variance-component analysis were applied. Over a period of 3.1 ± 0.6 years of study, changes in adiposity traits [body mass index (BMI), waist circumference, total fat mass, and fat mass to lean mass ratio] had significant associations with changes in metabolic syndrome clustering [high blood pressure, high serum glucose, high triglycerides (TG), and low high-density lipoprotein cholesterol] after adjusting for intra-familial and sibling correlations, age, sex, baseline metabolic syndrome clustering, and socioeconomic factors and health behaviors at follow-up. Change in BMI associated significantly with changes in individual metabolic syndrome components compared to other adiposity traits. Change in metabolic syndrome component TG was a better predictor of changes in adiposity traits compared to changes in other metabolic components. These associations were explained by significant environmental correlations but not by genetic correlations. Changes in anthropometric and fat mass indicators were positively associated with changes in metabolic syndrome clustering and those associations appeared to be regulated by environmental influences.
G Diwakar Naidu
Full Text Available Galloway–Mowat syndrome (GMS, also acknowledged as Microcephaly-Hiatal hernia nephrotic syndrome, is an uncommon genetic disorder inherited as an autosomal recessive trait usually seen before two years of life. It is an exceptional multisystem genetic disorder with a collection of skeletal, neurological, facial, gastrointestinal, growth, and renal abnormalities. This case report describes GMS in a girl, suffering from developmental delay, stunted growth, and various dysmorphic features, in whom nephrotic syndrome became apparent at adolescent age.
Schulman, Nina F; Sahana, Goutam; Lund, Mogens S
combinations, which were observed significant in the regression method. Twenty-two chromosome-wise significant QTL were detected. Several of the detected QTL areas were overlapping with milk production QTL previously identified in the same population. Multi-trait QTL analyses were carried out to test......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...... were used as phenotypic data. In a granddaughter design, 171 markers were typed on all 29 bovine autosomes. Associations between markers and traits were analysed by multiple marker regression. Multi-trait analyses were carried out with a variance component based approach for the chromosomes and trait...
Thomasen, J R; Guldbrandtsen, B; Sørensen, P
The objectives of this study were 1) to detect quantitative trait loci (QTL) affecting direct and maternal calving traits at first calving in the Danish Holstein population, 2) to distinguish between pleiotropic and linked QTL for chromosome regions affecting more than one trait, and 3) to detect...... QTL affecting stillbirth and calving difficulties but not calf size that could be used in selection to improve calving performance. Progeny-tested sons (2,297) were genotyped for 356 microsatellites in 34 grandsire families on all 29 autosomes. A total of 27 significant QTL on 17 chromosomes were...... detected using a between-families linear regression model. For the direct calving traits, 4 QTL significantly affected calving difficulty, 5 QTL affected stillbirth, and 7 QTL affected calf size subjectively assessed by the farmer as a categorical trait. When the maternal components of the same traits were...
van der Burgt Ineke
Full Text Available Abstract Noonan Syndrome (NS is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency and lymphatic dysplasias. The syndrome is transmitted as an autosomal dominant trait. In approximately 50% of cases, the disease is caused by missense mutations in the PTPN11 gene on chromosome 12, resulting in a gain of function of the non-receptor protein tyrosine phosphatase SHP-2 protein. Recently, mutations in the KRAS gene have been identified in a small proportion of patients with NS. A DNA test for mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. NS should be considered in all foetuses with polyhydramnion, pleural effusions, oedema and increased nuchal fluid with a normal karyotype. With special care and counselling, the majority of children with NS will grow up and function normally in the adult world. Management should address feeding problems in early childhood, evaluation of cardiac function and assessment of growth and motor development. Physiotherapy and/or speech therapy should be offered if indicated. A complete eye examination and hearing evaluation should be performed during the first few years of schooling. Preoperative coagulation studies are indicated. Signs and symptoms lessen with age and most adults with NS do not require special medical care.
Shinohara, Tetsuji; Kondo, Hidekazu; Otsubo, Toyokazu; Fukui, Akira; Yufu, Kunio; Nakagawa, Mikiko; Takahashi, Naohiko
Brugada syndrome (BrS) and early repolarization syndrome (ERS) are termed the J-wave syndrome. In most cases of J-wave syndrome, ventricular fibrillation (VF) often occurs around midnight or in the early morning when parasympathetic tone is augmented. The purpose of this study was to clarify the relationship between VF and autonomic nervous activity in patients with J-wave syndrome. We enrolled 28 consecutive patients with J-wave syndrome (20 BrS and 8 ERS) in whom implantable cardioverter defibrillators (ICDs) were implanted between January 2002 and December 2014. Eleven patients (39%) experienced ICD shock delivery due to VF recurrence after ICD implantation (recurrent-VF group). We investigated baroreflex sensitivity (BRS) using the phenylephrine method, heart rate variability (HRV) with Holter electrocardiography, plasma levels of norepinephrine, and cardiac 123 I-metaiodobenzylguanidine (MIBG) scintigraphy to estimate autonomic nervous function. Upon measurement of HRV, plasma levels of norepinephrine, and 123 I-MIBG testing, there was no significant difference between recurrent-VF and nonrecurrent-VF groups. However, BRS was significantly higher in the recurrent-VF group than in the nonrecurrent-VF group (P = 0.03). Kaplan-Meier curves suggested that high-BRS patients had higher VF recurrence than those with nonhigh-BRS (P = 0.04). Cox proportional hazards regression analyses showed that high BRS was associated independently with VF recurrence (P = 0.002). Our results suggest that exaggerated reactivity of parasympathetic nerves, as represented by increased BRS, may underlie VF in patients with J-wave syndrome. © 2016 Wiley Periodicals, Inc.
Ivarsson, Tord; Melin, Karin
- Objective: Assess the prevalence of autistic traits (AST) in pediatric obsessive-compulsive disorder (OCD) and relate them to OCD co-morbidity and compare them with published normative data. Methods: Pediatric patients with obsessive-compulsive disorder (n = 109) according to the DSM-IV were studied using parent ratings of the Autistic Symptom/Syndrome Questionnaire to assess AST symptoms as a continuous rather than categorical trait. The KSADS, a semi-structured psychiat...
Lablab purpureus (L.) sweet is an ancient legume species whose immature pods serve as a vegetable in south and south-east Asia. The objective of this study is to identify quantitative trait loci (QTLs) associated with quantitative traits such as inflorescence length, peduncle length from branch to axil, peduncle length from ...
In this study the associations between animal traits, carcass traits and carcass classification within cattle, sheep and pigs slaughtered in a high throughput abattoir were determined. Classes of carcasses from cattle, sheep and pigs delivered for slaughter at this abattoir were recorded and analysed. Significant associations ...
Aug 1, 2015 ... Abstract. In this study the associations between animal traits, carcass traits and carcass classification within cattle, sheep and pigs slaughtered in a high throughput abattoir were determined. Classes of carcasses from cattle, sheep and pigs delivered for slaughter at this abattoir were recorded and analysed.
Frimpong, Emmanuel; Angermeier, Paul
Species traits are used to study the functional organization of fish communities for a range of reasons, from simply reducing data dimensionality to providing mechanistic explanations for observed variation in communities. Ecological and life history traits have been used to understand the basic ecology of fishes and predict (1) species and community responses to habitat and climate alteration, and (2) species extinction, species invasion, and community homogenization. Many approaches in this arena have been developed during the past three decades, but they often have not been integrated with related ecological concepts or subdisciplines, which has led to confusion in terminology. We review 102 studies of species traits and then summarize patterns in traits being used and questions being addressed with trait-based approaches. Overall, studies of fish–habitat relationships that apply habitat templates and hierarchical filters dominate our sample; the most frequently used traits are related to feeding. We define and show the relationships among key terms such as fundamental and realized niches; functional traits, performance, and fitness; tactic, trait-state, syndromes, and strategies; and guilds and functional groups. We propose accelerating research to (1) quantify trait plasticity, (2) identify traits useful for testing ecological hypotheses, (3) model habitat and biotic interactions in communities while explicitly accounting for phylogenetic relationships, (4) explore how traits control community assembly, and (5) document the importance of traits in fish– community responses to anthropogenic change and in delivering ecosystem services. Further synthesis of these topics is still needed to develop concepts, models, and principles that can unify the disparate approaches taken in trait-based analysis of fish communities, link fish community ecology to general community ecology, and inform sustainable management of ecosystems.
Sevilla-Llewellyn-Jones, Julia; Cano-Domínguez, Pablo; de-Luis-Matilla, Antonia; Peñuelas-Calvo, Inmaculada; Espina-Eizaguirre, Alberto; Moreno-Kustner, Berta; Ochoa, Susana
Personality in patients with psychosis, and particularly its relation to psychotic symptoms in recent onset of psychosis (ROP) patients, is understudied. The aims of this research were to study the relation between dimensional and categorical clinical personality traits and symptoms, as well as the effects that symptoms, sex and age have on clinically significant personality traits. Data for these analyses were obtained from 94 ROP patients. The Millon Clinical Multiaxial Inventory and the Positive and Negative Syndrome Scale were used to assess personality and symptoms. Correlational Analysis, Mann-Whitney test, and, finally, logistic regression were carried out. The negative dimension was higher in patients with schizoid traits. The excited dimension was lower for those with avoidant and depressive traits. The anxiety and depression dimension was higher for patients with dependent traits. The positive dimension was lower for patients with histrionic and higher for patients with compulsive traits. Logistic regression demonstrated that gender and the positive and negative dimensions explained 35.9% of the variance of the schizoid trait. The excited dimension explained 9.1% of the variance of avoidant trait. The anxiety and depression dimension and age explained 31.3% of the dependent trait. Gender explained 11.6% of the histrionic trait, 14.5% of the narcissistic trait and 11.6% of the paranoid trait. Finally gender and positive dimension explained 16.1% of the compulsive trait. The study highlights the importance of studying personality in patients with psychosis as it broadens understating of the patients themselves and the symptoms suffered. Copyright © 2017 Elsevier Inc. All rights reserved.
A support group can be helpful for emotional support and for giving and receiving practical advice. The following organization provides additional information about Williams Syndrome: Williams Syndrome Association -- www.williams-syndrome.org
BILATERAL BENIGN HAEMORRHAGIC ADRENAL CYSTS IN BECKWITH - WIEDEMANN. SYNDROME: CASE REPORT. P. ANOOP and M. A. ANJAY. SUMMARY. Beckwith-Wiedemann syndrome is the most common overgrowth malformation syndrome. The classical features include macrosomia, macroglossia, ...
Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, ... A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, and ...
... extraction) have also been linked to acquired Brown syndrome. Inflammation of the tendon-trochlea complex (from adult and juvenile rheumatoid arthritis, systemic lupus erythematosus and sinusitis) can be ... syndrome hereditary? Hereditary cases of Brown syndrome are rare. ...
... Page You are here Home » Disorders » All Disorders Asperger Syndrome Information Page Asperger Syndrome Information Page What research is being done? ... Definition Treatment Prognosis Clinical Trials Organizations Publications Definition Asperger syndrome (AS) is a developmental disorder. It is ...
Blankstein, Kirk R.
To determine the relationship between Spielberger's measure of trait anxiety and social-interpersonal vs. physical danger trait anxiety, Ss were administered the trait scale of the State-Trait Anxiety Inventory (STAI) and Lykken's Activity Preference Questionnaire (APQ). (Editor)
Madhu, K G; George, Vijo; Binu, T G; Ranjith, R; Kunju, Subair; Baiju, R; Mohanan, K S; Jayaram, R; Radhakrishnan, V V
Early repolarisation (ER) on ECG, which was initially believed to be benign, has of late been considered otherwise. Brugada syndrome has recently been thought to be an extension of the ER spectrum, and the familial tendency of the ER pattern is being highlighted. With attention being drawn to ER's association with idiopathic ventricular fibrillation (VF), the prognosis and lineage of patients with an ER pattern are under scrutiny. To analyse ER patterns on ECG, their presence in first-degree relatives and their association with structural heart disease. To classify different types of ER and estimate the prevalence of the high-risk notch/slur pattern in the population studied. We screened all patients presenting to our department from December 2011 to July 2014 for ER patterns. We excluded patients with other causes of ST elevation that mimicked the ER pattern, those aged study. A complete physical examination, 12-lead ECG and echocardiography were performed on all study patients. Willing first-degree relatives were screened with a 12-lead ECG. Of the 963 patients with ER that we initially screened, 843 completed the study. A total of 4116 relatives were screened. Of the 843 patients who completed the study, 687 (81.5%) were male and 156 (18.5%) were female. The majority were asymptomatic (70.11%), but had been referred for ECG abnormalities. Fifteen patients with chest pain were inadvertently thrombolysed and were later diagnosed to have ER. Their ER pattern was exaggerated during chest pain, which made this error highly likely. Among the 48 patients who had acute coronary syndrome (ACS), ER pattern was noticed in a different lead than those affected by ACS. Of these, 27 (56.25%) had ventricular tachycardia/VF during the acute phase. Six patients had electrical storm without evidence of ACS, and all had a global ER pattern with prominent notching/slurring on baseline ECG. The most common type of ER pattern was type I (lateral leads; 55.87%). Twenty-one patients had
Mohan Makwana; R. K. Vishnoi; Jai Prakash Soni; Kapil Jetha; Suresh Kumar Verma; Pradeep Singh Rathore; Monika Choudhary
...,” in which the arterial changes are seen among patients with various syndromes or other disease processes- Down syndrome, sickle cell anaemia, neurofibromatosis type-1, congenital heart disease...
Yunus İlyas Kibar
Full Text Available Resistance to thyroid hormone syndrome (RTH is a rare disorder, usually inherited as an autosomal dominant trait. Patients with RTH are usually euthyroid but can occasionally present with signs and symptoms of thyrotoxicosis or rarely with hypothyroidism. We present a patient with interesting syndrome as RTH but no family history. Goiter, increased weight gain and normal mental status were observed despite high serum thyroid hormones and normal TSH levels
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.
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)
Larsen, Ida Unmack; Mortensen, Erik Lykke; Vinther-Jensen, Tua
Huntington's disease (HD) is associated with risk for developing psychiatric symptoms. Vulnerability or resilience to psychiatric symptoms may be associated with personality traits. This exploratory study, aimed to investigate personality traits in a large cohort of HD carriers and at risk gene......-expansion negative individuals (HD non-carriers), exploring whether carrying the HD gene or growing up in an HD family influences personality traits. Forty-seven HD carriers, Thirty-nine HD non-carriers, and 121 healthy controls answered the Danish version of the revised NEO personality inventory. Comparisons...... symptoms. Our findings suggest that, there is no direct effect of the HD gene on personality traits, but that personality assessment may be relevant to use when identifying individuals from HD families who are vulnerable to develop psychiatric symptoms....
Pepe, Guglielmina; Giusti, Betti; Sticchi, Elena; Abbate, Rosanna; Gensini, Gian Franco; Nistri, Stefano
Marfan syndrome (MFS) is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, due to mutations in the FBN1 gene encoding fibrillin 1. It is an important protein of the extracellular matrix that contributes to the final structure of a microfibril. Few cases displaying an autosomal recessive transmission are reported in the world. The FBN1 gene, which is made of 66 exons, is located on chromosome 15q21.1. This review, after an introduction on the clinical manifestations that leads to the diagnosis of MFS, focuses on cardiovascular manifestations, pharmacological and surgical therapies of thoracic aortic aneurysm and/or dissection (TAAD), mechanisms underlying the progression of aneurysm or of acute dissection, and biomarkers associated with progression of TAADs. A Dutch group compared treatment with losartan, an angiotensin II receptor-1 blocker, vs no other additional treatment (COMPARE clinical trial). They observed that losartan reduces the aortic dilatation rate in patients with Marfan syndrome. Later on, they also reported that losartan exerts a beneficial effect on patients with Marfan syndrome carrying an FBN1 mutation that causes haploinsufficiency (quantitative mutation), while it has no significant effect on patients displaying dominant negative (qualitative) mutations. Moreover, a French group in a 3-year trial compared the administration of losartan vs placebo in patients with Marfan syndrome under treatment with beta-receptor blockers. They observed that losartan decreases blood pressure but has no effect on aortic diameter progression. Thus, beta-receptor blockers remain the gold standard therapy in patients with Marfan syndrome. Three potential biochemical markers are mentioned in this review: total homocysteine, serum transforming growth factor beta, and lysyl oxidase. Moreover, markers of oxidative stress measured in plasma, previously correlated with clinical features of Marfan syndrome, may be explored as potential
Adviento, B; Corbin, IL; Widjaja, F; Desachy, G; Enrique, N; Rosser, T.; Risi, S.; Marco, EJ; Hendren, RL; Bearden, CE; Rauen, KA; Weiss,LA
Background Mutations in Ras/mitogen-activated protein kinase (Ras/MAPK) pathway genes lead to a class of disorders known as RASopathies, including neurofibromatosis type 1 (NF1), Noonan syndrome (NS), Costello syndrome (CS), and cardio-facio-cutaneous syndrome (CFC). Previous work has suggested potential genetic and phenotypic overlap between dysregulation of Ras/MAPK signalling and autism spectrum disorders (ASD). Although the literature offers conflicting evidence for association of NF1 and...
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.
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
... Intestinal Pseudo-obstruction Irritable Bowel Syndrome (IBS) Definition & Facts Symptoms & Causes Diagnosis Treatment Eating, Diet, & Nutrition Clinical Trials Irritable Bowel Syndrome (IBS) in Children Lactose Intolerance Ménétrier’s Disease Microscopic Colitis Ostomy Surgery of the ...
Pseudosciatica; Wallet sciatica; Hip socket neuropathy; Pelvic outlet syndrome; Low back pain - piriformis ... Sciatica is the main symptom of piriformis syndrome. Other symptoms include: Tenderness or a dull ache in ...
... Liver Tumors Biliary Atresia Cirrhosis of the Liver Galactosemia Gilbert’s Syndrome Diseases of the Liver Glycogen Storage ... Liver Tumors Biliary Atresia Cirrhosis of the Liver Galactosemia Gilbert’s Syndrome Diseases of the Liver Glycogen Storage ...
... Liver Tumors Biliary Atresia Cirrhosis of the Liver Galactosemia Gilbert’s Syndrome Diseases of the Liver Glycogen Storage ... Liver Tumors Biliary Atresia Cirrhosis of the Liver Galactosemia Gilbert’s Syndrome Diseases of the Liver Glycogen Storage ...
... Zellweger syndrome (ZS, the most severe form), neonatal adrenoleukodystrophy (NALD), and Infantile Refsum disease (IRD, the least ... Zellweger syndrome (ZS, the most severe form), neonatal adrenoleukodystrophy (NALD), and Infantile Refsum disease (IRD, the least ...
Full Text Available Proteus syndrome is a hamartomatous disorder characterised by focal overgrowths that can involve any structure of the body. An eleven-year-old girl with Proteus syndrome has been described with clitoromegaly.
Beuers, Ulrich; Rust, Christian
In hepatology, the term overlap syndrome describes variant forms of the major hepatobiliary autoimmune diseases, autoimmune hepatitis (AIH), primary biliary cirrhosis (PBC), and primary sclerosing cholangitis (PSC). Patients with overlap syndromes present with both hepatitic and cholestatic
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 ...
Reye syndrome is a rare illness that can affect the blood, liver, and brain of someone who has recently ... a viral illness, seek medical attention immediately. Reye syndrome can lead to a coma and brain death, ...
Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder that causes ... and vision. There are three types of Usher syndrome: People with type I are deaf from birth ...
Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete X ... work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...
Seropositive rheumatoid arthritis (RA); Felty's syndrome ... The cause of Felty syndrome is unknown. It is more common in people who have had rheumatoid arthritis (RA) for a long time. People with ...
Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. ...
... body. Many people with Alport syndrome also have hearing problems and abnormalities with their eyes. Other signs and ... and inherited type of Alport syndrome. For example, hearing and vision problems tend to be more common in males than ...
... eye sensitivity; motor delays; high or cleft palate; hearing problems and speech difficulties. Children with Moebius syndrome are ... eye sensitivity; motor delays; high or cleft palate; hearing problems and speech difficulties. Children with Moebius syndrome are ...
... 4602 [email protected] Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ... Helpline » Follow us Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ...
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... Our Team Financial Information NDSS History About Down Syndrome Down Syndrome Preferred Language Guide Down Syndrome Facts Down ... Our Team Financial Information NDSS History About Down Syndrome Down Syndrome Down Syndrome Facts Preferred Language Guide Publications ...
... Usher Syndrome > Facts About Usher Syndrome Facts About Usher Syndrome This information was developed by the National Eye ... is the best person to answer specific questions. Usher Syndrome Defined What is Usher syndrome? Usher syndrome is ...
... Newsletters & Reports About Rett Syndrome What is Rett Syndrome? Rett Syndrome Diagnosis Boys with MECP2 Clinics FAQs Glossary ... Newsletters & Reports About Rett Syndrome What is Rett Syndrome? Rett Syndrome Diagnosis Boys with MECP2 Clinics FAQs Glossary ...
Alcoverro Fortuny, O; Sierra Acín, A C
The authors report a case of Capgras' syndrome in a 16-years-old child, who had been hospitalized for psychotic disorder. A review of the literature is performed. Most authors state that Capgras' syndrome would represent a symptom of underlying medical o functional disorders, although the term syndrome is used. The main etiopathogenic hypothesis of this syndrome are put forward (psychodynamic, disconnection, neuropsychological and medical).
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
... much saturated fat, and does not get enough physical activity may develop metabolic syndrome. Other causes include insulin resistance and a family ... you’re overweight. It also includes getting more physical activity and eating a ... syndrome treatment If you already have metabolic syndrome, making ...
... necessary. Eating, Diet, and Nutrition Eating, diet, and nutrition have not been shown to play a role in causing or preventing Goodpasture syndrome. Points to Remember Goodpasture syndrome is a pulmonary-renal syndrome, which is a group of acute illnesses ...
A nationwide survey on Reye's syndrome(RS) was described. And problems between RS and influenza virus such as etiology, pathophysiology, differential diagnosis and epidemiology were reviewed. So-called aspirin issue on RS was re-evaluated according to recent advance of RS research. Finally future aspect of Reye's syndrome was also discussed.
... Page You are here Home » Disorders » All Disorders Reye's Syndrome Information Page Reye's Syndrome Information Page What research is being done? Much ... Information from the National Library of Medicine’s MedlinePlus Reye's Syndrome × What research is being done? Much of the ...
Salleck, D; John, S
Patients in the intensive care unit often suffer from cardiorenal syndrome, which can have an important influence on the patient's outcome. The heart and kidney influence each other via organ crosstalk. We screened and evaluated current publications on cardiorenal syndromes and their therapy. A key role in the management of cardiorenal syndromes is renal decongestion via loop diuretics.
consider the traits under the following categories: leaf traits, stem and root traits, reproductive traits, and traits particularly relevant to water availability. We compile quantitative information on functional traits of dry tropical forest species. We also discuss trait-based grouping of plants into PFTs. We recognize that there is ...
Ghiggia, Ada; Torta, Riccardo; Tesio, Valentina; Di Tella, Marialaura; Romeo, Annunziata; Colonna, Fabrizio; Geminiani, Giuliano Carlo; Fusaro, Enrico; Batticciotto, Alberto; Castelli, Lorys
The aim of this study was to compare the prevalence of psychosomatic symptoms in patients with fibromyalgia (FM) or rheumatoid arthritis (RA). Seventy-six consecutive women with FM and 80 with RA without concomitant FM were assessed using the Diagnostic Criteria for Psychosomatic Research (DCPR) interview to evaluate the presence of psychosomatic syndromes. Beck Depression Inventory - II (BDI-II) and Form Y of the State-Trait Anxiety Inventory (STAI-Y) were administered in order to assess the symptoms of anxiety and depression. Significantly higher levels of anxiety and depression were found in the FM patients (panxiety and depression in the patients with the psychosomatic condition. The findings of this study highlight the greater presence of psychological distress and psychosomatic syndromes in patients with FM than in RA patients. The FM patients with psychosomatic symptoms also showed high levels of psychological distress. A better understanding of the psychosomatic manifestations of FM syndrome could allow clinicians to structure tailored interventions that take more account of the emotional distress associated with the physical complaints.
Full Text Available This chapter focuses on identification of managerial traits (defined in 4E+P principles of the managers in a bakery and confectionery as well as in administration of steelworks. Existence of elements which prove two styles of management used by the managers was observed.
Ellers, Jacintha; Kiers, E Toby; Currie, Cameron R; McDonald, Bradon R; Visser, Bertanne
Loss of traits can dramatically alter the fate of species. Evidence is rapidly accumulating that the prevalence of trait loss is grossly underestimated. New findings demonstrate that traits can be lost without affecting the external phenotype, provided the lost function is compensated for by species interactions. This is important because trait loss can tighten the ecological relationship between partners, affecting the maintenance of species interactions. Here, we develop a new perspective on so-called `compensated trait loss' and how this type of trait loss may affect the evolutionary dynamics between interacting organisms. We argue that: (1) the frequency of compensated trait loss is currently underestimated because it can go unnoticed as long as ecological interactions are maintained; (2) by analysing known cases of trait loss, specific factors promoting compensated trait loss can be identified and (3) genomic sequencing is a key way forwards in detecting compensated trait loss. We present a comprehensive literature survey showing that compensated trait loss is taxonomically widespread, can involve essential traits, and often occurs as replicated evolutionary events. Despite its hidden nature, compensated trait loss is important in directing evolutionary dynamics of ecological relationships and has the potential to change facultative ecological interactions into obligatory ones. © 2012 Blackwell Publishing Ltd/CNRS.
Lo Muzio, Lorenzo
Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies). Intellectual deficit is present in up to 5% of cases. BCCs (varying clinically from flesh-colored papules to ulcerating plaques and in diameter from 1 to 10 mm) are most commonly located on the face, back and chest. The number of BBCs varies from a few to several thousand. Recurrent jaw cysts occur in 90% of patients. Skeletal abnormalities (affecting the shape of the ribs, vertebral column bones, and the skull) are frequent. Ocular, genitourinary and cardiovascular disorders may occur. About 5-10% of NBCCS patients develop the brain malignancy medulloblastoma, which may be a potential cause of early death. NBCCS is caused by mutations in the PTCH1 gene and is transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. Clinical diagnosis relies on specific criteria. Gene mutation analysis confirms the diagnosis. Genetic counseling is mandatory. Antenatal diagnosis is feasible by means of ultrasound scans and analysis of DNA extracted from fetal cells (obtained by amniocentesis or chorionic villus sampling). Main differential diagnoses include Bazex syndrome, trichoepithelioma papulosum multiplex and Torre's syndrome (Muir-Torre's syndrome). Management requires a multidisciplinary approach. Keratocysts are treated by surgical removal. Surgery for BBCs is indicated when the number of lesions is limited; other treatments include laser ablation, photodynamic
Lo Muzio Lorenzo
Full Text Available Abstract Nevoid basal cell carcinoma syndrome (NBCCS, also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs, odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies. Intellectual deficit is present in up to 5% of cases. BCCs (varying clinically from flesh-colored papules to ulcerating plaques and in diameter from 1 to 10 mm are most commonly located on the face, back and chest. The number of BBCs varies from a few to several thousand. Recurrent jaw cysts occur in 90% of patients. Skeletal abnormalities (affecting the shape of the ribs, vertebral column bones, and the skull are frequent. Ocular, genitourinary and cardiovascular disorders may occur. About 5–10% of NBCCS patients develop the brain malignancy medulloblastoma, which may be a potential cause of early death. NBCCS is caused by mutations in the PTCH1 gene and is transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. Clinical diagnosis relies on specific criteria. Gene mutation analysis confirms the diagnosis. Genetic counseling is mandatory. Antenatal diagnosis is feasible by means of ultrasound scans and analysis of DNA extracted from fetal cells (obtained by amniocentesis or chorionic villus sampling. Main differential diagnoses include Bazex syndrome, trichoepithelioma papulosum multiplex and Torre's syndrome (Muir-Torre's syndrome. Management requires a multidisciplinary approach. Keratocysts are treated by surgical removal. Surgery for BBCs is indicated when the number of lesions is limited; other treatments include laser
Full Text Available BACKGROUND Moyamoya disease is a disorder of blood vessels in the brain, specifically the internal carotid arteries and the arteries that branch from them. The primary idiopathic form “moyamoya disease” has been distinguished from an associated form of “moyamoya syndrome,” in which the arterial changes are seen among patients with various syndromes or other disease processes- Down syndrome, sickle cell anaemia, neurofibromatosis type-1, congenital heart disease, fibromuscular dysplasia, activated protein C resistance, or head trauma. There have been only 47 previous cases of moyamoya syndrome in association with Down syndrome reported in the world literature. Recently, we have come across a Case of Downs’ Syndrome with Moyamoya Syndrome. Because of its rarity we want to report our case.
Kavamura, M I; Peres, C A; Alchorne, M M A; Brunoni, D
Controversy exists concerning the delineation of cardiofaciocutaneous syndrome (CFC). Many authors have attempted to establish syndrome traits for CFC, but to date none are pathognomonic or obligatory. We have created a clinical and objective method, called the CFC index, for CFC diagnosis. This method also differentiates CFC from Noonan syndrome and Costello syndrome, CFC's main differential diagnosis. We propose the use of the CFC index for the confirmation of CFC diagnosis and to differentiate CFC from other phenotypically similar genetic conditions, while molecular studies are still in progress. Copyright 2002 Wiley-Liss, Inc.
Schubert, Anna-Lena; Frischkorn, Gidon; Hagemann, Dirk; Voss, Andreas
... 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...
Nierstrasz, Oscar; Ducasse, Stéphane; Reichhart, Stefan; Schärli, Nathanael
Traits offer a fine-grained mechanism for composing classes in object-oriented languages from reusable components, while avoiding the fragility problems introduced by multiple inheritance and mixins. Although traits were developed in the context of dynamically typed languages, they would also offer clear benefits for statically typed languages like Java and C#. This report summarizes the issues raised when integrating traits into such languages. We examine traits in the context of the statica...
Allemand, Mathias; Gruenenfelder-Steiger, Andrea E; Hill, Patrick L.
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...
Li, H D; Lund, M S; Christensen, O F
loss, and the Minolta color measurements L*, a*, and b* representing meat lightness, redness, and yellowness, respectively. The families consist of 3,883 progenies of 12 Duroc boars that were evaluated to identify the QTL. The linkage map consists of 462 SNP markers on 18 porcine autosomes...... 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...... will be helpful for fine mapping and identifying genes affecting meat quality traits, and tightly linked markers may be incorporated into marker-assisted selection programs...
Full Text Available A recombinant inbred lines (RILs population of 90 lines were developed from a subspecies cross between an indica type cultivar, ‘Cheongcheong’, and a japonica rice cultivar, ‘Nagdong’ was evaluated for leaf traits in 2009. A genetic linkage map consisting of 154 simple sequence repeat (SSR markers was constructed, covering 1973.6 cM of 12 chromosomes with an average map distance of 13.9 cM between markers. By composite interval mapping method a total of 19 QTLs were identified for the leaf traits on 5 chromosomes (Chr.1, Chr.3, Chr.6, Chr.8 and Chr.11. The percentage of phenotypic variance explained by each QTL varied from 8.1% to 29.4%. Five pleiotropic effects loci were identified on chromosomes 1,6.
Loney, Bryan R.; Lima, Elizabeth N.; Butler, Melanie A.
This study examined for profiles of positive trait affectivity (PA) and negative trait affectivity (NA) associated with adolescent conduct problems. Prior trait affectivity research has been relatively biased toward the assessment of adults and internalizing symptomatology. Consistent with recent developmental modeling of antisocial behavior, this…
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…
Metabolic syndrome is a cluster of disorders that include hyperlipidemia, inadequate insulin resistance, hypertension, and abdominal type obesity. Patients who suffer from this syndrome have an increased risk for heart disease and blood vessel disease, stroke and type II diabetes. The world's leading healthcare institutions also disagree on the exact definition of this organization poremećaja. NCEP (National Cholesterol Education Program) defines metabolic syndrome as a situation in which the...
Kamal F Akl
Full Text Available The urofacial syndrome is characterized by functional obstructive uropathy asso-ciated with an inverted smile. The importance of the subject is that it sheds light, not only on the muscles of facial expression, but also on the inheritance of voiding disorders and lower urinary tract malformations. We report a 10-year-old-male patient who had the urofacial syndrome. Early diagnosis of the urofacial syndrome is important to avoid upper urinary tract damage and renal failure.
Dayane Cristine Issaho
Full Text Available Revesz syndrome is a rare variant of dyskeratosis congenita and is characterized by bilateral exudative retinopathy, alterations in the anterior ocular segment, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, bone marrow failure, cerebral calcification, cerebellar hypoplasia and psychomotor retardation. Few patients with this syndrome have been reported, and significant clinical variations exist among patients. This report describes the first Brazilian case of Revesz syndrome and its ocular and clinical features.
Li, Ji; Qiu, Zheng-Qing; Wei, Min
Caroli's syndrome is a rare autosomal recessive hereditary disease. Here a case of Caroli's syndrome associated with medullary sponge kidney was reported. The patient was a 2-years and 10 months-old boy. He presented with hepatosplenomegaly. Fever, abdominal pain or jaundice was not found. The imaging examination showed intrahepatic bile duct dilation, splenomegaly, medullary sponge kidney and nephrocalcinosis. After introduction of the case, this paper reviewed the clinical characteristics, diagnosis and treatment of Caroli's syndrome.
... Syndrome Information Page NINDS Whiplash Information Page NINDS Infantile Spasms Information Page NINDS Myotonia Congenita Information Page NINDS Ataxias and Cerebellar or Spinocerebellar Degeneration Information Page Congenital ...
Késöi, István; Sági, Balázs; Vas, Tibor; Pintér, Tünde; Kovács, Tibor; Wittmann, István; Nagy, Judit
Cardiac and kidney diseases are very common, and increasingly coexist. Classification for cardiorenal syndrome and for its specific subtypes has been developed and published recently by a consensus group of the Acute Dialysis Quality Initiative. Cardiorenal syndromes have been classified according to whether the impairment of each organ is primary, secondary or whether heart and kidney dysfunction occurs simultaneously as a systemic disease. The different syndromes were classified into five subtypes. Type-1: acute cardiorenal syndrome: an abrupt worsening of cardiac function leading to acute kidney injury and/or dysfunction. Type-2: chronic cardiorenal syndrome: chronic abnormalities in cardiac function causing kidney injury and/or dysfunction. Type-3: acute renocardiac syndrome: abrupt worsening of kidney function leading to heart injury and/or dysfunction. Type-4: chronic renocardiac syndrome: chronic kidney diseases leading to heart injury, disease and/or dysfunction. Type-5: secondary cardiorenal syndrome: acute or chronic systemic diseases leading to simultaneous injury and/or dysfunction of heart and kidney. The identification of patients and the pathophysiological mechanisms underlying each syndrome subtype will help cardiologists, nephrologists and physicians working on intensive care units to characterize groups of their patients with cardiac and renal impairment and to provide a more accurate treatment for them.
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
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
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
... 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 ...
... Action You are here Home › Retinal Diseases Listen Usher Syndrome What is Usher syndrome? How is Usher syndrome ... available? Are there any related diseases? What is Usher Syndrome? Usher syndrome is an inherited condition characterized by ...
Silver-Russell syndrome; Silver syndrome; RSS; Russell-Silver syndrome ... One in 10 children with this syndrome has a problem involving chromosome 7. In other people with the syndrome, it may affect chromosome 11. Most of the time, it ...
Kornør, Hege; Nordvik, Hilmar
Correlational analyses of the personality traits measured by the Revised NEO Personality Inventory (NEO PI-R; Costa & McCrae, 1992) and three leadership styles, that is, Change, Production, and Employee (CPE) measured by Ekvall and Arvonen's (1991) CPE questionnaire, were performed. The sample was 106 Norwegian leaders. Three common factors comprising leadership styles and personality domains were interpreted as "looking for new possibilities,"hard working," and "dealing with people." Considering personality traits as behavior tendencies in unspecified situational contexts and leadership styles as behavioral tendencies in the leadership context, and due to the self-report nature of the data, it is argued that the factors show consistency in self-perceptions independent of context. The strongest predictors of the CPE total score were Conscientiousness and Extraversion; Openness and Agreeableness were specific predictors of Change and Employee, respectively.
Wray, N R; Visscher, P M
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. © 2015 Blackwell Verlag GmbH.
Skewes, Joshua; Jegindø, Else-Marie Elmholdt; Gebauer, Line
Autistic people are better at perceiving details. Major theories explain this in terms of bottom-up sensory mechanisms, or in terms of top-down cognitive biases. Recently, it has become possible to link these theories within a common framework. This framework assumes that perception is implicit....... In this preliminary study, we compared these models using groups with high and low autistic trait scores (AQ). We found evidence supporting the cognitive bias model, and no evidence for the enhanced sensory precision model....
Gülnur Tekgöl Uzuner; Özge Keleş; Nevzat Uzuner
Balint’s syndrome is a rare disorder affecting the ability to perceive the visual field as a whole, most commonly following damage to the bilateral occipital and parietal regions. This syndrome has three components as simultanagnosia, optic ataxia, and oculomotor apraxia. Simultanagnosia play a key role in this syndrome. Sixty-two years old male patient who applied the blindness symptom has been evaluated in outpatient clinic. We observed that there are some deficits in perceive of visual fie...
Staab, Jeffrey P; Rohe, Daniel E; Eggers, Scott D Z; Shepard, Neil T
Chronic subjective dizziness (CSD) is a neurotologic disorder of persistent non-vertiginous dizziness, unsteadiness, and hypersensitivity to one's own motion or exposure to complex visual stimuli. CSD usually follows acute attacks of vertigo or dizziness and is thought to arise from patients' failure to re-establish normal locomotor control strategies after resolution of acute vestibular symptoms. Pre-existing anxiety or anxiety diathesis may be risk factors for CSD. This study tested the hypothesis that patients with CSD are more likely than individuals with other chronic neurotologic illnesses to possess anxious, introverted personality traits. Data were abstracted retrospectively from medical records of 40 patients who underwent multidisciplinary neurotology evaluations for chronic dizziness. Twenty-four subjects had CSD. Sixteen had chronic medical conditions other than CSD plus co-existing anxiety disorders. Group differences in demographics, Dizziness Handicap Inventory (DHI) scores, Hospital Anxiety and Depression Scale (HADS) scores, DSM-IV diagnoses, personality traits measured with the NEO Personality Inventory - Revised (NEO-PI-R), and temperaments composed of NEO-PI-R facets were examined. There were no differences between groups in demographics, mean DHI or HADS-anxiety scores, or DSM-IV diagnoses. The CSD group had higher mean HADS-depression and NEO-PI-R trait anxiety, but lower NEO-PI-R extraversion, warmth, positive emotions, openness to feelings, and trust (all p<0.05). CSD subjects were significantly more likely than comparison subjects to have a composite temperament of high trait anxiety plus low warmth or excitement seeking. An anxious, introverted temperament is strongly associated with CSD and may be a risk factor for developing this syndrome. Copyright © 2013 Elsevier Inc. All rights reserved.
Psychopathy is a personality disorder characterized by a constellation of interpersonal, affective, and behavioural traits. The growing literature on adolescent psychopathic traits suggests psychopathic traits can be assessed reliably and the traits demonstrate construct validity. Psychopathic traits in adolescents are associated with a variety of negative outcomes, including violence and criminality. However, there is considerable debate about the assessment of psychopathic traits in adolesc...
Levinson, E D; Zimmerman, A W; Grunnet, M L; Lewis, R A; Spackman, T J
The diagnosis of Cockayne syndrome was established with the aid of cranial computed tomography (CT) in a child with growth deficiency, mental retardation, and neurologic findings which are typical for this rare childhood disorder. Calcification of basal ganglia and hydrocephalus ex vacuo are neuropathologic characteristics of Cockayne syndrome which may be present on CT as early as 3 years of age.
Full Text Available Ambras syndrome, a form of congenital hypertrichosis lanuginosa, is extremely rare in neonates. It is characterized by typical pattern of hair distribution, dysmorphic facial features and a familial pattern of inheritance. We report a case of Ambras syndrome in a preterm neonate with history of consanguinity and positive family history.
Cervera, Ricard; Piette, Jean-Charles; Font, Josep
To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression.......To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression....
Kounis syndrome is characterised by a group of symptoms that manifest as unstable vasospastic or nonvasospastic angina secondary ... to coronary arterial involvement, Kounis syndrome comprises other arterial systems with similar physiologies, such as mesenteric and cerebral ... a likely diagnosis and blood was sent for.
Kidney dysfunction in patients with heart failure and cardiovascular disorders in patients with chronic kidney disease are common. A recently proposed consensus definition of cardiorenal syndrome stresses the bidirectional nature of these heart-kidney interactions. The treatment of cardiorenal syndrome is challenging, however, promising new therapeutic options are currently being investigated in recent and ongoing clinical trials.
If you have Tourette syndrome, you make unusual movements or sounds, called tics. You have little or no control over them. Common tics are throat- ... spin, or, rarely, blurt out swear words. Tourette syndrome is a disorder of the nervous system. It ...
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.
Fontenelle, Elisa; de Almeida, Ana Paula Moura; Souza, Gabriela Maria Assis de Almeida
Marshall´s syndrome is a form of acquired cutis laxa without systemic involvement, which is preceded by an inflammatory dermatitis with a neutrophilic component. We report a case of a 6-year-old boy with clinical and histopathological features of this syndrome. The etiology remains unknown and there is no definitive treatment. PMID:23739715
Igawa, Takuro; Sato, Yasuharu
TAFRO syndrome is a newly recognized variant of idiopathic multicentric Castleman disease (iMCD) that involves a constellation of syndromes: thrombocytopenia (T), anasarca (A), fever (F), reticulin fibrosis (R), and organomegaly (O). Thrombocytopenia and severe anasarca accompanied by relatively low serum immunoglobulin levels are characteristic clinical findings of TAFRO syndrome that are not present in iMCD-not otherwise specified (iMCD-NOS). Lymph node biopsy is recommended to exclude other diseases and to diagnose TAFRO syndrome, which reveals characteristic histopathological findings similar to hyaline vascular-type CD. TAFRO syndrome follows a more aggressive course, compared with iMCD-NOS, and there is no standard treatment. Copyright © 2017 Elsevier Inc. All rights reserved.
CREST syndrome has been described as a form of progressive systemic sclerosis in which there is relatively limited involvement of the skin, prominence of calcinosis, Raynaud's phenomenon, esophageal dysfunction and telangiectasia. The acronym CREST was coined in 1964 by Winterbauer in the USA but the very first case report was by French physicians Thibierge and Weissenbach in 1910. Antinuclear antibodies recognizing chromosomal centromere proteins are characteristic of CREST syndrome and are present in more than 50% of the cases. The prognosis of CREST syndrome is relatively good with a long lasting disease duration (>10 years). Two complications are seldom associated with CREST syndrome: digital gangrene with finger losses and pulmonary hypertension (3 to 14% of CREST syndrome). Pulmonary hypertension is a very late event and the prognosis is very severe (mortality rate of 50% after 2 years).
Li, Haiquan; Lee, Younghee; Chen, James L; Rebman, Ellen; Li, Jianrong; Lussier, Yves A
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. 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. 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 ptraits' were similar to one another, as were 'metabolic syndrome traits' (Fisher's exact test p=0.001 and 3.5×10(-7), respectively). 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.
In conclusion, CKD is prevalent in patients with the metabolic syndrome and may be due to a synergistic effect of the various components of the syndrome. Diastolic blood pressure and obesity may predict CKD in MetS patients. Albuminuria may also be prevalent in MetS patients; increasing with increasing number of MetS traits.
Mendez, P. K.; Resh, V. H.
Biological and ecological traits of fauna have the potential to indicate changes in community structure that relate to function as an alternative to using traditional taxonomic descriptors. However, traits may be inherited, and consequently, not all species traits are independent of phylogeny. When used in analyses of community structure, results based on traits may be difficult to interpret; suites of traits may respond together even if only one trait is responding to changes in the habitat. To determine the relationship between traits and phylogeny, we examined life history and behavioral traits for the extant 45 families of Trichoptera. Traits such as larval size, respiratory strategies, case or net materials, locomotion, food and functional feeding group, voltanism, diapause, habitat, and reproduction were collected from published life histories. Traits were then coded and mapped onto the phylogeny of Trichoptera to determine the correlations between traits, as well as correlations directly influenced by the phylogeny. Traits such as functional feeding group, reproductive strategies, and building materials were correlated with phylogeny, while traits such as locomotion and habitat type were less influenced by phylogeny. Consideration of macroinvertebrate phylogenies when selecting biological and ecological traits may be essential for accurate interpretation of community function.
Adler, Peter B; Fajardo, Alex; Kleinhesselink, Andrew R; Kraft, Nathan J B
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. © 2013 John Wiley & Sons Ltd/CNRS.
Rosenthal, Rachel; Schäfer, Juliane; Hoffmann, Henry; Vitz, Martina; Oertli, Daniel; Hahnloser, Dieter
Surgeons' personalities have been described as different from those of the general population, but this was based on small descriptive studies limited by the choice of evaluation instrument. Furthermore, although the importance of the human factor in team performance has been recognized, the effect of personality traits on technical performance is unknown. This study aimed to compare surgical residents' personality traits with those of the general population and to evaluate whether an association exists between their personality traits and technical performance using a virtual reality (VR) laparoscopy simulator. In this study, 95 participants (54 residents with basic, 29 with intermediate laparoscopic experience, and 12 students) underwent personality assessment using the NEO-Five Factor Inventory and performed five VR tasks of the Lap Mentor™ basic tasks module. The residents' personality traits were compared with those of the general population, and the association between VR performance and personality traits was investigated. Surgical residents showed personality traits different from those of the general population, demonstrating lower neuroticism, higher extraversion and conscientiousness, and male residents showed greater openness. In the multivariable analysis, adjusted for gender and surgical experience, none of the personality traits was found to be an independent predictor of technical performance. Surgical residents present distinct personality traits that differ from those of the general population. These traits were not found to be associated with technical performance in a virtual environment. The traits may, however, play an important role in team performance, which in turn is highly relevant for optimal surgical performance.
Barton, Andrew D; Pershing, Andrew J; Litchman, Elena; Record, Nicholas R; Edwards, Kyle F; Finkel, Zoe V; Kiørboe, Thomas; Ward, Ben A
Changes in marine plankton communities driven by environmental variability impact the marine food web and global biogeochemical cycles of carbon and other elements. To predict and assess these community shifts and their consequences, ecologists are increasingly investigating how the functional traits of plankton determine their relative fitness along environmental and biological gradients. Laboratory, field and modelling studies are adopting this trait-based approach to map the biogeography of plankton traits that underlies variations in plankton communities. Here, we review progress towards understanding the regulatory roles of several key plankton functional traits, including cell size, N2 -fixation and mixotrophy among phytoplankton, and body size, ontogeny and feeding behaviour for zooplankton. The trait biogeographical approach sheds light on what structures plankton communities in the current ocean, as well as under climate change scenarios, and also allows for finer resolution of community function because community trait composition determines the rates of significant processes, including carbon export. Although understanding of trait biogeography is growing, uncertainties remain that stem, in part, from the paucity of observations describing plankton functional traits. Thus, in addition to recommending widespread adoption of the trait-based approach, we advocate for enhanced collection, standardisation and dissemination of plankton functional trait data. © 2013 Blackwell Publishing Ltd/CNRS.
Asokan, S; Muthu, M S; Rathna Prabhu, V
Noonan syndrome is a developmental disorder characterized by facial dysmorphia, short stature, cardiac defects and skeletal malformations. It may be sporadic or inherited as an autosomal dominant or recessive trait and occurs, one in 1,000-2,500 children. This is a case report of a 13 year-old girl who was referred by a general dental practitioner to a pediatric dentist for management. Full mouth dental rehabilitation was done and the child was brought to a dental institution for correction of orofacial and occlusal defects. Multidisciplinary treatment is the key to success in managing children with Noonan syndrome and the pediatric dentists play an important position to lead the health team.
Full Text Available Noonan syndrome is a developmental disorder characterized by facial dysmorphia, short stature, cardiac defects and skeletal malformations. It may be sporadic or inherited as an autosomal dominant or recessive trait and occurs, one in 1000-2500 children. This is a case report of a 13 year-old girl who was referred by a general dental practitioner to a pediatric dentist for management. Full mouth dental rehabilitation was done and the child was brought to a dental institution for correction of orofacial and occlusal defects. Multidisciplinary treatment is the key to success in managing children with Noonan syndrome and the pediatric dentists play an important position to lead the health team.
Artigas-Pallarés, J; Gabau-Vila, E; Guitart-Feliubadaló, M
In this study we report on the different genetic syndromes in which autism has been described as one of the possible manifestations. Certain genetic syndromes are providing us with extremely valuable information about the role played by genetics in autism. This is the case of the following syndromes: Angelman syndrome, Prader-Willi syndrome, 15q11-q13 duplication, fragile X syndrome, fragile X premutation, deletion of chromosome 2q, XYY syndrome, Smith-Lemli-Opitz syndrome, Apert syndrome, mutations in the ARX gene, De Lange syndrome, Smith-Magenis syndrome, Williams syndrome, Rett syndrome, Noonan syndrome, Down syndrome, velo-cardio-facial syndrome, myotonic dystrophy, Steinert disease, tuberous sclerosis, Duchenne's disease, Timothy syndrome, 10p terminal deletion, Cowden syndrome, 45,X/46,XY mosaicism, Myhre syndrome, Sotos syndrome, Cohen syndrome, Goldenhar syndrome, Joubert syndrome, Lujan-Fryns syndrome, Moebius syndrome, hypomelanosis of Ito, neurofibromatosis type 1, CHARGE syndrome and HEADD syndrome.
Edmondson, Donald; Shaffer, Jonathan A; Chaplin, William F; Burg, Matthew M; Stone, Arthur A; Schwartz, Joseph E
Ecological momentary assessments (EMA) of anxiety and anger/hostility were obtained every 25-30 minutes over two 24-hour periods, separated by a median of 6 months, from 165 employees at a university in the Northeast. We used a multilevel trait-state-error structural equation model to estimate: (1) the proportion of variance in EMA anxiety and anger/hostility attributable to stable trait-like individual differences; (2) the correspondence between these trait-like components of EMA anxiety and anger/hostility and traditional questionnaire measures of each construct; and (3) the test-retest correlation between two 24-hour averages obtained several months apart. After adjustment for measurement error, more than half the total variance in EMA reports of anxiety and anger/hostility is attributable to stable trait-like individual differences; however, the trait-like component of each construct is only modestly correlated with questionnaire measures of that construct. The 6-month "test-retest" correlations of latent variables representing the true 24-hour EMA average anxiety and average anger are quite high (r ≥ 0.83). This study represents the longest follow-up period over which EMA-based estimates of traits have been examined. The results suggest that although the trait component (individual differences) of EMA momentary ratings of anxiety and anger is larger than the state component, traditional self-report questionnaires of trait anxiety and anger correspond only weakly with EMA-defined traits.
Walker Ruth H
Full Text Available Abstract Neuroacanthocytosis (NA syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome which have a Huntington´s disease-like phenotype consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. In addition, cardiomyopathy may occur in McLeod syndrome. Acanthocytes are also found in a proportion of patients with autosomal dominant Huntington's disease-like 2, autosomal recessive pantothenate kinase-associated neurodegeneration and several inherited disorders of lipoprotein metabolism, namely abetalipoproteinemia (Bassen-Kornzweig syndrome and hypobetalipoproteinemia leading to vitamin E malabsorption. The latter disorders are characterized by a peripheral neuropathy and sensory ataxia due to dorsal column degeneration, but movement disorders and cognitive impairment are not present. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known. The association of the acanthocytic membrane abnormality with selective degeneration of the basal ganglia, however, suggests a common pathogenetic pathway. Laboratory tests include blood smears to detect acanthocytosis and determination of serum creatine kinase. Cerebral magnetic resonance imaging may demonstrate striatal atrophy. Kell and Kx blood group antigens are reduced or absent in McLeod syndrome. Western blot for chorein demonstrates absence of this protein in red blood cells of chorea-acanthocytosis patients. Specific genetic testing is possible in all NA syndromes
Johannesen, Katrine; Bødtger, Uffe; Heltberg, Ole
Lemierre's syndrome is an often un-diagnosed disease seen in previously healthy young subjects, presenting with symptoms of pharyngitis, fever and elevated markers of inflammation. The syndrome is characterised by infectious thrombosis of the jugular vein due to infection with Fusobacteria, causing...... 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....
Full Text Available Goldenhar syndrome is a syndrome of complex structures developing from first and second branchial arches during blastogenesis. The etiology of this rare disease is not fully understood, as it has shown itself variable genetically and of unclear causes. The disorder is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. Here we present a unique case of Goldenhar syndrome with absence of left condyle, hypoplasia of the zygomatic bone, no pneumatization of the mastoid process, underdeveloped mandible, bifid tongue and the skin tags in the preauricular area.
Ivarsson, Tord; Melin, Karin
Assess the prevalence of autistic traits (AST) in pediatric obsessive-compulsive disorder (OCD) and relate them to OCD co-morbidity and compare them with published normative data. Pediatric patients with obsessive-compulsive disorder (n=109) according to the DSM-IV were studied using parent ratings of the Autistic Symptom/Syndrome Questionnaire to assess AST symptoms as a continuous rather than categorical trait. The KSADS, a semi-structured psychiatric interview, was used for the psychiatric diagnostic evaluation. Also, the Children's Yale-Brown Obsessive-Compulsive Scale was used to assess OCD severity and other clinical features. AST was common among our patients. Symptom scores were highest in cases with co-morbid Autistic Spectrum Disorders, but cases with other co-morbidities as tics/Tourette and attention/behavioral disorders also scored higher. All sub-groups, including OCD without these co-morbidities scored higher than the Swedish normative group. Using ANOVA, co-morbid ASD and tics/Tourette (plus a term for gender by tic interaction indicating that girls with tics scored high, otherwise low) and pathological doubt contributed (R2=.41) to the AST-traits, while OCD severity and co-morbid anxiety- and depressive disorders did not. AST traits are prevalent in OCD and seem to be intricately associated with the co-morbidities as well as the OCD syndrome itself. The findings might have implication for our nosological understanding of OCD which currently is discussed.
Levordashka, Ana; Utz, Sonja
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.
Kazemi, Baharan; Gamberale-Stille, Gabriella; Leimar, Olof
Mimicry occurs when one species gains protection from predators by resembling an unprofitable model species. The degree of mimic–model similarity is variable in nature and is closely related to the number of traits that the mimic shares with its model. Here, we experimentally test the hypothesis that the relative salience of traits, as perceived by a predator, is an important determinant of the degree of mimic–model similarity required for successful mimicry. We manipulated the relative salience of the traits of a two-trait artificial model prey, and subsequently tested the survival of mimics of the different traits. The unrewarded model prey had two colour traits, black and blue, and the rewarded prey had two combinations of green, brown and grey shades. Blue tits were used as predators. We found that the birds perceived the black and blue traits to be similarly salient in one treatment, and mimic–model similarity in both traits was then required for high mimic success. In a second treatment, the blue trait was the most salient trait, and mimic–model similarity in this trait alone achieved high success. Our results thus support the idea that similar salience of model traits can explain the occurrence of multi-trait mimicry. PMID:26511051
Van Wijk, Charles H
Panic behavior poses a particular threat to the health and safety of subaquatic occupational specialists. Trait anxiety has previously been identified as a marker of panic behavior under water, and Spielberger's State-Trait Personality Inventory (trait anxiety subscale) has been previously used to measure trait anxiety among subaquatic specialists. Using archived data, the trait anxiety scores of subaquatic specialists were analyzed to meet 3 objectives: 1stly - to develop a trait anxiety profile of subaquatic specialists; 2ndly - to investigate the predictive value of trait anxiety measures upon entering an occupational field; and 3rdly - to establish the reliability of these scores over time. Archival trait-anxiety data from 322 subjects were analyzed statistically. Analysis of the available scores revealed a highly homogenous as well as a very low trait anxiety profile for the investigated occupational group. Additionally, low trait anxiety was somewhat associated with success during specialist training: fewer candidates with high trait anxiety scores completed their qualification. Moreover, measurement of trait anxiety was stable over time, which suggests that when scores for this occupational group are screened, deviations from previous scores could signify a potential need for referral to an intervention from health professionals. Using the trait anxiety subscale as part of occupational health surveillance of subaquatic specialists could support prevention of accidents by identifying high-risk candidates during their annual health assessments, and referral for timeous intervention.
Jridi, Siham; Azzeddine, Rajae; Jamal Eddine BOURKADI
Le syndrome d'hypersensibilit? m?dicamenteuse ou Drug Rash with Eosinophilia and Systemic Symptoms ou DRESS syndrome est une toxidermie grave qui peut mettre en jeu le pronostic vital. Il faut y penser devant toute r?action cutan?e apr?s la prise des m?dicaments. Nous rapportons un cas clinique d'un patient ?g? de 45 ans trait? pour tuberculose pulmonaire TPM+ pr?sentant un DRESS syndrome induit par les anti-bacillaires.
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.
Ilska, Joanna; Haskell, Marie J; Blott, Sarah C; Sánchez-Molano, Enrique; Polgar, Zita; Lofgren, Sarah E; Clements, Dylan N; Wiener, Pamela
The genetic architecture of behavioral traits in dogs is of great interest to owners, breeders, and professionals involved in animal welfare, as well as to scientists studying the genetics of animal (including human) behavior. The genetic component of dog behavior is supported by between-breed differences and some evidence of within-breed variation. However, it is a challenge to gather sufficiently large datasets to dissect the genetic basis of complex traits such as behavior, which are both time-consuming and logistically difficult to measure, and known to be influenced by nongenetic factors. In this study, we exploited the knowledge that owners have of their dogs to generate a large dataset of personality traits in Labrador Retrievers. While accounting for key environmental factors, we demonstrate that genetic variance can be detected for dog personality traits assessed using questionnaire data. We identified substantial genetic variance for several traits, including fetching tendency and fear of loud noises, while other traits revealed negligibly small heritabilities. Genetic correlations were also estimated between traits; however, due to fairly large SEs, only a handful of trait pairs yielded statistically significant estimates. Genomic analyses indicated that these traits are mainly polygenic, such that individual genomic regions have small effects, and suggested chromosomal associations for six of the traits. The polygenic nature of these traits is consistent with previous behavioral genetics studies in other species, for example in mouse, and confirms that large datasets are required to quantify the genetic variance and to identify the individual genes that influence behavioral traits. Copyright © 2017 by the Genetics Society of America.
Mackenzie, Sally Ann; De la Rosa Santamaria, Roberto
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.
Mackenzie, Sally Ann; De la Rosa Santamaria, Roberto
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.
Reyes, M G
At necropsy, two patients with sickle cell trait and progressive motor and visual deficits, lethargy and coma showed infarctions of the deep cerebral white matter and brain stem. The findings in these patients and another reported in the literature suggest that subcortical infarctions may be more common in sickle cell trait than has been recognised and should be suspected in any patient with sickle cell trait who presents with an unusual neurological illness.
Cote, J; Dreiss, A; Clobert, J
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.
Sugiyama, Toshiko; Kameyama, Atsushi; Yamakura, Daiki; Morinaga, Kazuki; Tsunoda, Masatake
Many patients visit oral malodor clinics because of malodors which are brought to their attention by friends and family, or because they note the behavior of people around them, they suspect a problem and develop a fear of having an oral malodor. However, only around 30% of such patients actually have levels of malodor high enough to bother other people. Many patients exhibit halitophobia symptoms, which present as self-perception of malodor, and thus have a strong obsession about their smell which results in distress. Here, we carried out a study on 300 outpatients who visited the Tokyo Dental College Chiba Hospital Odor Clinic. We used the Tokyo University Egogram (TEG) to elucidate character traits of affected outpatients and compared the occurrence of TEG types in these patients with those of normal individuals. We discovered that 10.4% of patients were A-dominant type, which was 10.6% lower than the 21.0% of normal individuals. On the other hand, 18.4% of patients were N-type (NP high, FC low), which was 9.9% higher than the 8.5% of normal individuals. Results revealed that very few of the malodor outpatients exhibited the trait that shows intelligence, calm judgment, and self-affirmation, and as a result enjoy their life. Instead, many of these patients tended to show high levels of kindness and appeared to be holding themselves back and exercising patience.
Givens, Jane L; Frederick, Maureen; Silverman, Leanne; Anderson, Stacy; Senville, Joanna; Silver, Margery; Sebastiani, Paola; Terry, Dellara F; Costa, Paul T.; Perls, Thomas T.
OBJECTIVES To determine whether the offspring of centenarians have personality characteristics that are distinct from the general population. DESIGN Case-control. SETTING Nationwide U.S. sample. PARTICIPANTS Unrelated offspring of centenarians (n = 246, mean age 75) were compared with published norms. MEASUREMENTS Using the NEO-Five-Factor Inventory (NEO-FFI) questionnaire, measures of the personality traits neuroticism, extraversion, openness, agreeableness, and conscientiousness were obtained. T-scores and percentiles were calculated according to sex and used to interpret the results. RESULTS Male and female offspring of centenarians scored in the low range of published norms for neuroticism and in the high range for extraversion. The women also scored comparatively high in agreeableness. Otherwise, both sexes scored within normal range for conscientiousness and openness, and the men scored within normal range for agreeableness. CONCLUSION Specific personality traits may be important to the relative successful aging demonstrated by the offspring of centenarians. Similarities across four of the five domains between male and female offspring is noteworthy and may relate to their successful aging. Measures of personality are an important phenotype to include in studies that assess genetic and environmental influences of longevity and successful aging. PMID:19392961
Turhal, Nazim Serdar; Demirhan, Salih; Satici, Celal; Cinar, Caner; Kinar, Abdullah
This study was planned to investigate the personality traits of cancer patients in different treatment settings, and to correlate the demographics with the personality features. A total of 237 patients referred either to Marmara University School of Medicine (MUSM) Oncology Outpatient Unit or to the private office of the faculty between March 10th and April 22nd, 2010 were enrolled in the study. The Big Five Mini Test was used to evaluate the 40 personality traits of the patients. The study group consisted of 98 males (41.35%) and 139 females (58.65%) with a mean age of 51. Out of the 237, 73.9% had an educational level beyond the junior high school, and 47.3% of all patients reported a positive family history for cancer. A significant difference in terms of reconcilability, extraversion, and responsibility was observed between patients admitting to the university outpatient clinic and the private office (pcancer, age and marital status showed no relevance to their characters. No discordance was observed between the self-analysis of the patient and the patient's relatives. Patients with cancer are typically highly reconcilable and responsible, moderately stable, open and extraverted.
Comte, Lise; Olden, Julian D
Dispersal is a fundamental process defining the distribution of organisms and has long been a topic of inquiry in ecology and evolution. Emerging research points to an interdependency of dispersal with a diverse suite of traits in terrestrial organisms, however the extent to which such dispersal syndromes exist in freshwater species remains uncertain. Here, we test whether dispersal in freshwater fishes (1) is a fixed property of species, and (2) correlates with life-history, morphological, ecological and behavioural traits, using a global dataset of dispersal distances collected from the literature encompassing 116 riverine species and 196 locations. Our meta-analysis revealed a high degree of repeatability and heritability in the dispersal estimates and strong associations with traits related to life-history strategies, energy allocation to reproduction, ecological specialization and swimming skills. Together, these results demonstrate that similar to terrestrial organisms, the multi-dimensional nature of dispersal syndromes in freshwater species offer opportunities for the development of a unifying paradigm of movement ecology that transcend taxonomic and biogeographical realms. The high explanatory power of the models also suggests that trait-based and phylogenetic approaches hold considerable promises to inform conservation efforts in a rapidly changing world. © 2018 The Author(s).
J Gordon Millichap
Brain stem calcification on CT scan, suggesting prenatal brain stem ischemia, is reported in an infant with Moebius syndrome examined in the Department of Pediatrics and Neonatal Medicine, State University of Gent, Gent, Belgium.
... the set located behind your jaw and in front of your ears Skin rashes or dry skin Vaginal dryness Persistent dry cough Prolonged fatigue Causes Sjogren's syndrome is an autoimmune disorder. Your immune system mistakenly ...
... from the National Library of Medicine’s MedlinePlus Genetic Brain Disorders Show More Show Less ... Definition Fahr's Syndrome is a rare, genetically dominant, inherited neurological disorder characterized by abnormal deposits of ...
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.
Cuadrado, Antonio; Díaz, Ainhoa; Iruzubieta, Paula; Salcines, José Ramón; Crespo, Javier
Hepatopulmonary syndrome is characterized by the presence of liver disease, pulmonary vascular dilatations, and arterial hypoxemia. It is usually associated with cirrhosis of any origin, but has been described in other liver diseases, both acute and chronic, and not always associated with portal hypertension. The gold standard method to detect pulmonary vascular dilations is contrast enhancement echocardiography with saline and is essential for the diagnosis of hepatopulmonary syndrome. These dilatations reflect changes in the pulmonary microvasculature (vasodilatation, intravascular monocyte accumulation, and angiogenesis) and induce a ventilation/perfusion mismatch, or even true intrapulmonary shunts, which eventually trigger hypoxemia. This syndrome worsens patients' prognosis and impairs their quality of life and may lead to the need for liver transplantation, which is the only effective and definitive treatment. In this article, we review the etiological, pathophysiological, clinical and therapeutic features of this syndrome. Copyright © 2015 Elsevier España, S.L.U. and AEEH y AEG. All rights reserved.
Cushing's syndrome is a hormonal disorder. The cause is long-term exposure to too much cortisol, a ... medicine to treat an inflammatory disease leads to Cushing's. Some kinds of tumors produce a hormone that ...
... drawings. Frequently, there is also an impairment in reading. Children with a high level of intellectual functioning as well as those with brain damage may be affected with the disorder. × Definition Gerstmann's syndrome is a cognitive impairment that results ...
... Division of Neuroscience Director, NIH BRAIN Initiative® Health Scientist Administrator Channels Synapses Circuits Cluster Scientific Director, Division of Intramural Research Featured Director's Message menu search Enter Search Term Submit Search Paraneoplastic Syndromes Information ...
... Division of Neuroscience Director, NIH BRAIN Initiative® Health Scientist Administrator Channels Synapses Circuits Cluster Scientific Director, Division of Intramural Research Featured Director's Message menu search Enter Search Term Submit Search Antiphospholipid Syndrome Information ...
... hormone. People suffering from depression, alcoholism, malnutrition, or panic disorders also have increased cortisol levels. When the ... five times more often than men. Ectopic ACTH Syndrome Some benign or, more often, cancerous tumors that ...
... vomiting Diarrhea Reye's syndrome Symptoms & causes Diagnosis & treatment Advertisement Mayo Clinic does not endorse companies or products. ... a Job Site Map About This Site Twitter Facebook Google YouTube Pinterest Mayo Clinic is a not- ...
... a focal brain lesion (damage contained to one area of the brain) surgery may be beneficial. Other therapies are ... Wernicke-Korsakoff Syndrome Information Page NINDS Whiplash Information Page ...
... 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: ...
Infertility is the most common symptom of Klinefelter syndrome. Symptoms may include any of the following: Abnormal body proportions (long legs, short trunk, shoulder equal to hip size) Abnormally large breasts ( gynecomastia ) ...
... the gene Other tests may include: Brain MRI EEG Treatment There is no cure for Angelman syndrome. ... nih.gov/pubmed/20301323 . Accessed August 1, 2015. Review Date 8/1/2015 Updated by: Chad Haldeman- ...
Saric, Ana; Andreau, Karine; Armand, Anne-Sophie
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,...
... programs can help improve skills. They may include speech, physical, occupational, and/or educational therapy. With support and treatment, many people with Down syndrome live happy, productive lives. NIH: National Institute of Child Health and Human Development
... whether you have Marfan syndrome. Medical and Family Histories Your doctor will ask about your medical history ... and football. You also may need to avoid sports that involve physical contact with other players or ...
... that may cause problems with chewing Underactive thyroid ( hypothyroidism ) Exams and Tests A doctor can often make ... those with Down syndrome to: Be taught about pregnancy and taking the proper precautions Learn to advocate ...
... have an increased risk of an underactive thyroid (hypothyroidism) due to the autoimmune disorder Hashimoto's thyroiditis. They also have an increased risk of diabetes. Some women with Turner syndrome have gluten intolerance (celiac disease) or inflammatory bowel disease. Skeletal ...
... 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. ...
... whether treatment of the cause is successful. Possible Complications There are no direct complications of Horner syndrome ... Jankovic J, Mazziotta JC, Pomeroy SL, eds. Bradley's Neurology in Clinical Practice . 7th ed. Philadelphia, PA: Elsevier; ...
... NINDS Focus on Research Alzheimer's & Related Dementias Bioengineering Epilepsy Health Disparities Neural Interfaces Parkinson's Disease Spinal Cord ... basic and clinical research on all types of epilepsy, including Dravet syndrome. Study of the genetic defects ...
... Barré Syndrome Information Page Headache Information Page Hemicrania Continua Information Page Hemifacial Spasm Information Page Hereditary Spastic ... the Spotlight Find NINDS Clinical Trials Patient & Caregiver Education Fact Sheets Hope Through Research Know Your Brain ...
Karikkineth, Ajoy C; Scheibye-Knudsen, Morten; Fivenson, Elayne
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...
Conclusion: Goldenhar Syndrome is a congenital abnormally which manly affects face, but another organs involvement should be considered .Cardiac problems are the main causes of death in these patients.
Brun, Philipp; Payne, Mark R.; Kiørboe, Thomas
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, doi:10.1594/PANGAEA.862968.
Tara A Miskovich
Full Text Available Dispositional anxiety is a stable personality trait that is a key risk factor for internalizing disorders, and understanding the neural correlates of trait anxiety may help us better understand the development of these disorders. Abnormal cortical folding is thought to reflect differences in cortical connectivity occurring during brain development. Therefore, assessing gyrification may advance understanding of cortical development and organization associated with trait anxiety. Previous literature has revealed structural abnormalities in trait anxiety and related disorders, but no study to our knowledge has examined gyrification in trait anxiety. We utilized a relatively novel measure, the local gyrification index (LGI, to explore differences in gyrification as a function of trait anxiety. We obtained structural MRI scans using a 3T magnetic resonance scanner on 113 young adults. Results indicated a negative correlation between trait anxiety and LGI in the left superior parietal cortex, specifically the precuneus, reflecting less cortical complexity among those high on trait anxiety. Our findings suggest that aberrations in cortical gyrification in a key region of the default mode network is a correlate of trait anxiety and may reflect disrupted local parietal connectivity.
Bleidorn, Wiebke; Hopwood, Christopher J; Lucas, Richard E
Theory and research have emphasized the impact of life events on personality trait change. In this article, we review prospective research on personality trait change in response to nine major life events in the broader domains of love and work. We expected to find that life events lead to personality trait change to the extent that they have a lasting influence on individuals' thoughts, feelings, and behavior. Moreover, we predicted that love-related life events such as marriage or parenthood would be more strongly related to changes in traits that emphasize affective content, whereas work-related life events would be more likely to lead to change in traits that reflect behavioral or cognitive content. The current state of research provided some evidence that life events can lead to changes in personality traits and that different life events may be differently related to specific trait domains. A more general conclusion emerging from this review is that the evidence for the nature, shape, and timing of personality trait change in response to life events is still preliminary. We discuss the implications of the results for theory and research and provide directions for future studies on life events and personality trait change. © 2016 Wiley Periodicals, Inc.
Lichtman, E.; Ohman, M.D.; Kiørboe, Thomas
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...... 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...
Full Text Available 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.
Sharma Nand Lal
Full Text Available Cockayne syndrome is a rare autosomal recessive disease of complex clinical phenotype that usually presents in early childhood. Characteristically the child presents with delayed milestones, growth and mental retardation associated with typical facies, photosensitivity, retinitis pigmentosa, deafness and ataxia. The various features are attributed to abnormal transcription rather than abnormal repair of photodamaged DNA. Based on clinical criteria a classical case of Cockayne syndrome in a 7 year old girl is described.
The author defines and discusses Reye's syndrome and the hypotheses relating to its causes and associating its incidence with that of chickenpox and influenza A and B. The recent decline in the incidence of Reye's syndrome appears to be related to the reduced use of Aspirin in children and adolescents. Although evidence so far is circumstantial, North American P(a)ediatric Associations have indicated that Aspirin should not be used to control fever in children who have viral infections but es...
Schneider, Kristin L.; Appelhans, Bradley M.; Whited, Matthew C.; Oleski, Jessica; Pagoto, Sherry L.
The present study examined whether trait anxiety and trait anger are associated with vulnerability to emotional eating, particularly among obese individuals. Lean (n=37) and obese (n=24) participants engaged in a laboratory study where they completed measures of trait anxiety and trait anger at screening and then completed 3 counterbalanced experimental sessions involving different mood inductions (neutral, anxiety, anger). Following each mood induction, participants were provided with snack foods in a sham taste test. Models predicting snack intake revealed a significant trait anxiety × body mass index group interaction, such that high trait anxiety was positively associated with food intake for obese individuals, but not their lean counterparts. Contrary to the hypothesis, trait anger was not associated with food intake for obese or lean participants. Results suggest that trait anxiety may be a risk factor for emotional eating among obese individuals. PMID:20959131
Chummun, Shaheel; McLean, N R; Nugent, M; Anderson, P J; David, David J
Patients with chondrodysplasia punctata (CDP) usually present with Binder-type features, and often CDP is misdiagnosed as Binder syndrome. This study reviewed the management and outcome of patients with Binder syndrome and CDP in a multidisciplinary setting. The notes and radiographs of the patients managed at the Australian Craniofacial Unit with a multidisciplinary setting since 1976 were reviewed, and data were collected on patient demographics, associated medical and surgical problems, subsequent management, and complications. Seventy-seven patients were treated over the 30-year period (5 patients were lost to follow-up); of the remaining 72 patients, 60 (83%) had Binder syndrome, and 12 (17%) were patients with CDP. Forty were males, and 32 were females, with an age range of 6 months to 47 years. Thirteen patients (18%) had a strong family history, and 65 patients (90%) have so far undergone surgical correction, and of those, 35 (54%) have completed their treatment, the longest follow-up time being 18 years. The mean number of surgical procedures was 2.4, and 18 patients (28%) had postoperative complications, which included partial necrosis of the maxilla, osteomyelitis of the mandible, facial nerve and inferior alveolar nerve neuropraxia, nasal bone graft exposure, and cellulitis. Because of the phenotypic characteristics shared by both Binder syndrome and CDP, it is most likely that Binder syndrome is not a syndrome, nor is it an entity, but most likely to be an "association." We would advocate that these patients should be managed in a multidisciplinary setting.
Kant, Leo; Skogstad, Anders; Torsheim, Torbjørn; Einarsen, Ståle
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...
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.
Vyas, Vishal; Lambiase, Pier D
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 (LQTS), Brugada and early repolarization syndrome, and catecholaminergic polymorphic ventricular tachycardia (CPVT) 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 (VUS). 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 personalized 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.
... the Likelihood of Having a Child with Down Syndrome? Down syndrome occurs in people of all races and ... care and treatment of babies born with Down syndrome. Does Down Syndrome Run in Families? All 3 types of ...
... Home / Obesity Hypoventilation Syndrome Obesity Hypoventilation Syndrome Also known as Pickwickian Syndrome What ... your neck is larger than normal. Complications of Obesity Hypoventilation Syndrome When left untreated, OHS can cause ...
... Needs a Kidney Transplant Vision Facts and Myths 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 ...
... Research Home / Metabolic Syndrome Metabolic Syndrome What Is Metabolic syndrome is the name for a group of risk ... three metabolic risk factors to be diagnosed with metabolic syndrome. A large waistline. This also is called abdominal ...
Calcium-alkali syndrome; Cope syndrome; Burnett syndrome; Hypercalcemia; Calcium metabolism disorder ... Milk-alkali syndrome is almost always caused by taking too many calcium supplements, usually in the form of calcium carbonate. Calcium ...
... can I get more information? What is Rett syndrome? Rett syndrome is a neurodevelopmenal disorder that affects girls ... as “asymptomatic female carriers.” top Who gets Rett syndrome? Rett syndrome is estimated to affect one in every ...
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Trolle, Christian; Mortensen, Kristian Havmand; Bjerre, Mette
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...
Lopez, Frederick G.; Thurman, Christopher W.
Investigated differences in family environments of high- and low-trait angry college students (n=202). Found that high-trait angry students described their family environments as significantly less cohesive, less emotionally expressive, more conflictual, and more disorganized than did their low-trait angry counterparts. Findings have implications…
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 ...
Gülnur Tekgöl Uzuner
Full Text Available Balint’s syndrome is a rare disorder affecting the ability to perceive the visual field as a whole, most commonly following damage to the bilateral occipital and parietal regions. This syndrome has three components as simultanagnosia, optic ataxia, and oculomotor apraxia. Simultanagnosia play a key role in this syndrome. Sixty-two years old male patient who applied the blindness symptom has been evaluated in outpatient clinic. We observed that there are some deficits in perceive of visual field rather than blindness in neurologic examination of the patient. He had simultanagnosia, optic ataxia and oculomotor apraxia. There are multiple infarcts in bilaterally occipital and parietal regions in the patient’s cerebral MRI. In this case, we have present a rare disorder of the Balint’s syndrome.
Kröber, Wenzel; Plath, Isa; Heklau, Heike; Bruelheide, Helge
Leaf functional traits are important because they reflect physiological functions, such as transpiration and carbon assimilation. In particular, morphological leaf traits have the potential to summarize plants strategies in terms of water use efficiency, growth pattern and nutrient use. The leaf economics spectrum (LES) is a recognized framework in functional plant ecology and reflects a gradient of increasing specific leaf area (SLA), leaf nitrogen, phosphorus and cation content, and decreasing leaf dry matter content (LDMC) and carbon nitrogen ratio (CN). The LES describes different strategies ranging from that of short-lived leaves with high photosynthetic capacity per leaf mass to long-lived leaves with low mass-based carbon assimilation rates. However, traits that are not included in the LES might provide additional information on the species' physiology, such as those related to stomatal control. Protocols are presented for a wide range of leaf functional traits, including traits of the LES, but also traits that are independent of the LES. In particular, a new method is introduced that relates the plants' regulatory behavior in stomatal conductance to vapor pressure deficit. The resulting parameters of stomatal regulation can then be compared to the LES and other plant functional traits. The results show that functional leaf traits of the LES were also valid predictors for the parameters of stomatal regulation. For example, leaf carbon concentration was positively related to the vapor pressure deficit (vpd) at the point of inflection and the maximum of the conductance-vpd curve. However, traits that are not included in the LES added information in explaining parameters of stomatal control: the vpd at the point of inflection of the conductance-vpd curve was lower for species with higher stomatal density and higher stomatal index. Overall, stomata and vein traits were more powerful predictors for explaining stomatal regulation than traits used in the LES.
Drenovsky, Rebecca E.; Grewell, Brenda J.; D'Antonio, Carla M.; Funk, Jennifer L.; James, Jeremy J.; Molinari, Nicole; Parker, Ingrid M.; Richards, Christina L.
Background and Aims Global environmental change will affect non-native plant invasions, with profound potential impacts on native plant populations, communities and ecosystems. In this context, we review plant functional traits, particularly those that drive invader abundance (invasiveness) and impacts, as well as the integration of these traits across multiple ecological scales, and as a basis for restoration and management. Scope We review the concepts and terminology surrounding functional traits and how functional traits influence processes at the individual level. We explore how phenotypic plasticity may lead to rapid evolution of novel traits facilitating invasiveness in changing environments and then ‘scale up’ to evaluate the relative importance of demographic traits and their links to invasion rates. We then suggest a functional trait framework for assessing per capita effects and, ultimately, impacts of invasive plants on plant communities and ecosystems. Lastly, we focus on the role of functional trait-based approaches in invasive species management and restoration in the context of rapid, global environmental change. Conclusions To understand how the abundance and impacts of invasive plants will respond to rapid environmental changes it is essential to link trait-based responses of invaders to changes in community and ecosystem properties. To do so requires a comprehensive effort that considers dynamic environmental controls and a targeted approach to understand key functional traits driving both invader abundance and impacts. If we are to predict future invasions, manage those at hand and use restoration technology to mitigate invasive species impacts, future research must focus on functional traits that promote invasiveness and invader impacts under changing conditions, and integrate major factors driving invasions from individual to ecosystem levels. PMID:22589328
Pierce, Simon; Brusa, Guido; Sartori, Matteo; Cerabolini, Bruno E L
Hydrophytes generally exhibit highly acquisitive leaf economics. However, a range of growth forms is evident, from small, free-floating and rapidly growing Lemniden to large, broad-leaved Nymphaeiden, denoting variability in adaptive strategies. Traits used to classify adaptive strategies in terrestrial species, such as canopy height, are not applicable to hydrophytes. We hypothesize that hydrophyte leaf size traits and economics exhibit sufficient overlap with terrestrial species to allow a common classification of plant functional types, sensu Grime's CSR theory. Leaf morpho-functional traits were measured for 61 species from 47 water bodies in lowland continental, sub-alpine and alpine bioclimatic zones in southern Europe and compared against the full leaf economics spectrum and leaf size range of terrestrial herbs, and between hydrophyte growth forms. Hydrophytes differed in the ranges and mean values of traits compared with herbs, but principal components analysis (PCA) demonstrated that both groups shared axes of trait variability: PCA1 encompassed size variation (area and mass), and PCA2 ranged from relatively dense, carbon-rich leaves to nitrogen-rich leaves of high specific leaf area (SLA). Most growth forms exhibited trait syndromes directly equivalent to herbs classified as R adapted, although Nymphaeiden ranged between C and SR adaptation. Our findings support the hypothesis that hydrophyte adaptive strategy variation reflects fundamental trade-offs in economics and size that govern all plants, and that hydrophyte adaptive strategies can be directly compared with terrestrial species by combining leaf economics and size traits.
Full Text Available The integration of expression profiling with linkage analysis has increasingly been used to identify genes underlying complex phenotypes. The effects of gender on the regulation of many physiological traits are well documented; however, "genetical genomic" analyses have not yet addressed the degree to which their conclusions are affected by sex. We constructed and densely genotyped a large F2 intercross derived from the inbred mouse strains C57BL/6J and C3H/HeJ on an apolipoprotein E null (ApoE-/- background. This BXH.ApoE-/- population recapitulates several "metabolic syndrome" phenotypes. The cross consists of 334 animals of both sexes, allowing us to specifically test for the dependence of linkage on sex. We detected several thousand liver gene expression quantitative trait loci, a significant proportion of which are sex-biased. We used these analyses to dissect the genetics of gonadal fat mass, a complex trait with sex-specific regulation. We present evidence for a remarkably high degree of sex-dependence on both the cis and trans regulation of gene expression. We demonstrate how these analyses can be applied to the study of the genetics underlying gonadal fat mass, a complex trait showing significantly female-biased heritability. These data have implications on the potential effects of sex on the genetic regulation of other complex traits.
Dobson, Alleson; Cotter, Paul D; Ross, R Paul; Hill, Colin
Bacteriocins are an abundant and diverse group of ribosomally synthesized antimicrobial peptides produced by bacteria and archaea. Traditionally, bacteriocin production has been considered an important trait in the selection of probiotic strains, but until recently, few studies have definitively demonstrated the impact of bacteriocin production on the ability of a strain to compete within complex microbial communities and/or positively influence the health of the host. Although research in this area is still in its infancy, there is intriguing evidence to suggest that bacteriocins may function in a number of ways within the gastrointestinal tract. Bacteriocins may facilitate the introduction of a producer into an established niche, directly inhibit the invasion of competing strains or pathogens, or modulate the composition of the microbiota and influence the host immune system. Here we review the role of bacteriocin production in complex microbial communities and their potential to enhance human health.
Moffett, L A; Dreger, R M
Factor analyzed the preference ratings of 70 male and 70 female undergraduates for 36 slides of sculpture. A principal factors solution with orthogonal rotations yielded 6 factors: ambiguous abstraction vs. controlled human realism, mildly distorted representation, emotional detachment, traditional portraiture vs. surrealism, highly distorted representation, and geometric abstraction. Some of these factors were similar to the Apollonian, the Dionysian, and the Pythagorean dimensions previously postualted by Nietzsche and Knapp. Preference scores for each factor were computed and correlated with scores on the 16 PF and with selected educational and physical variables. A few small, significant (p less than .05) correlations were found, supporting the hypothesis that artistic style preferences resemble the personality traits of the spectator.
Skewes, Joshua C; Jegindø, Else-Marie; Gebauer, Line
Autistic people are better at perceiving details. Major theories explain this in terms of bottom-up sensory mechanisms or in terms of top-down cognitive biases. Recently, it has become possible to link these theories within a common framework. This framework assumes that perception is implicit neural inference, combining sensory evidence with prior perceptual knowledge. Within this framework, perceptual differences may occur because of enhanced precision in how sensory evidence is represented or because sensory evidence is weighted much higher than prior perceptual knowledge. In this preliminary study, we compared these models using groups with high and low autistic trait scores (Autism-Spectrum Quotient). We found evidence supporting the cognitive bias model and no evidence for the enhanced sensory precision model. © The Author(s) 2014.
Following a brief overview, we discuss plant FTs that may be particularly relevant to tropical deciduous forests (TDFs). We consider the traits under the following categories: leaf traits, stem and root traits, reproductive traits, and traits particularly relevant to water availability. We compile quantitative information on functional ...
Reid, William H
Persons with borderline personality disorder (BPD) and related traits appear in many forensic psychiatry settings. Their clinical hallmarks affecting judgment, insight, impulsivity, motivations, and regulation of emotions, as well as their frequently chaotic lives (internal and external), inaccurate perceptions, rationalizations, and comorbid syndromes can have a marked effect on many civil, criminal, and institutional (eg, corrections) issues. Individuals with BPD are overrepresented in civil, criminal, and child custody forensic situations. The character psychopathology of these individuals is substantial, but is often not obvious to laypersons, including lawyers, judges, and jurors. The presence of BPD rarely affects basic responsibility for the person's actions, nor does it usually compromise most forms of competency. Function, not diagnosis, is the key arbiter of forensic relevance. BPD is associated with an increase in the likelihood of doctor-patient problems, including patient complaints and lawsuits that may not be deserved. Forensic professionals evaluating persons with BPD and related traits should be aware of personal and professional bias, particularly that associated with true countertransference.
Herrán, Andrés; Sierra-Biddle, Deirdre; Cuesta, Maria Jesús; Sandoya, Marta; Vázquez-Barquero, José Luis
Psychotic features have been considered the main determinant of psychosocial function in schizophrenia. However, other variables are likely to affect dysfunction in these patients. The authors' hypothesis is that personality traits in outpatients with chronic schizophrenia differ from traits found in the healthy population and may be associated with disability in this disorder. A total of 62 patients with schizophrenia were evaluated with the Eysenck Personality Questionnaire (EPQ) and the Tridimensional Personality Questionnaire (TPQ). Psychotic features were measured with the help of the Positive and Negative Syndrome Scale (PANSS). Disability was assessed with the Disability Assessment Schedule (DAS). A total of 43 healthy subjects were used as controls for personality measurements. Normative data for the study population was also used to evaluate results in patients. Patients with schizophrenia had higher levels of neuroticism (median in percentile 65) and lower levels of extraversion (median in percentile 25) than the healthy population. Results of the TPQ showed higher harm avoidance and lower reward dependence levels compared to the healthy population. After multiple regression tests, negative symptoms were the strongest predictor of disability in patients with schizophrenia. Neuroticism contributed independently to the DAS overall behavior and global judgement subscales scores (more negative symptoms and higher neuroticism resulted in worse functioning), but not to the social role subscale. Outpatients with chronic schizophrenia showed high levels of neuroticism, harm avoidance, and introversion. Neuroticism significantly contributes to the long-term deficits found in patients with schizophrenia.
Hegland, Stein Joar; Totland, Ørjan
Knowledge about plant-plant interactions for pollinator service at the plant community level is still scarce, although such interactions may be important to seed production and hence the population dynamics of individual plant species and the species compositions of communities. An important step towards a better understanding of pollination interactions at the community level is to assess if the variation in floral traits among plant species explain the variation in flower visitation frequency among those species. We investigated the relative importance of various floral traits for the visitation frequency of all insects, and bumblebees and flies separately, to plant species by measuring the visitation frequency to all insect-pollinated species in a community during an entire flowering season. Visitation frequency was identified to be strongly positive related to the visual display area and the date of peak flowering of plant species. Categorical variables, such as flower form and symmetry, were important to the visitation frequency of flies only. We constructed floral similarity measures based on the species' floral traits and found that the floral similarity for all species' traits combined and the continuous traits separately were positively related to individual visitation frequency. On the other hand, plant species with similar categorical floral traits did not have similar visitation frequencies. In conclusion, our results show that continuous traits, such as flower size and/or density, are more important for the variation in visitation frequency among plant species than thought earlier. Furthermore, differences in visitation frequency among pollinator groups give a poor support to the expectations derived from the classical pollination syndromes.
Full Text Available This article describes the relationship between empathy and personality traits at preadolescents. The personality profile of preadolescents with high level of empathy are highlighted. As results we established that for preadolescents with mentioned category of empathy are characteristic such traits of personality as: emotional stability, sensitiveness, sincerity, activism, optimism, self-confidence and perceptiveness to others.
Background: The human dermatoglyphic traits present variations within and between populations and could be used for estimating the genetic distances between populations. Aim: This study aims to characterize the dermatoglyphic traits in the Tunisian population and to analyze eventual differences between men and ...
Williams, Trevor F; Simms, Leonard J
Dimensional personality trait models have gained favor as an alternative to categorical personality disorder (PD) diagnosis; however, debate persists regarding whether these traits should be conceptualized as maladaptive at both extremes (i.e., maladaptively bipolar) or just one trait pole (i.e., unipolar). To inform the debate on maladaptive bipolarity, linear and nonlinear relations between personality traits and dysfunction were examined in a large psychiatric patient sample (N = 365). Participants self-reported on normal-range and pathological personality domains, life satisfaction, specific interpersonal problems, and broad psychosocial functioning. In addition, participants were interviewed regarding specific psychiatric symptoms and broad psychosocial functioning. All traits related moderately to strongly with at least one dysfunction variable. All traits were predominantly correlated with dysfunction at one pole; however, several small linear relations provided some evidence for maladaptively high Extraversion and Agreeableness. None of the significant nonlinear effects provided clear evidence for maladaptivity at both ends of any trait. Taken together, these results suggest that broad personality traits are predominantly maladaptive at one extreme; however, in limited cases, the opposite extreme may also be maladaptive. © 2017 Wiley Periodicals, Inc.
While the psychological underpinnings of social ideology are well established, less is known about the psychological underpinnings of economic ideology. In this study I assess whether Big Five personality traits are associated with economic ideology and when personality traits are more strongly or
Abstract – Background: The human dermatoglyphic traits present variations within and between populations and could be used for estimating the genetic distances between populations. Aim: This study aims to characterize the dermatoglyphic traits in the. Tunisian population and to analyze eventual differences between ...
School superintendents and school leaders can be most effective if they understand their personality traits and the traits of those they learn and work with. A school leader can maximize their effectiveness by examining their own behaviors, thinking and habits as well as recognizing the behaviors of others. The DISC Pure Behavioral styles and the…
Zaccaro, Stephen J.
The trait-based perspective of leadership has a long but checkered history. Trait approaches dominated the initial decades of scientific leadership research. Later, they were disdained for their inability to offer clear distinctions between leaders and nonleaders and for their failure to account for situational variance in leadership behavior.…
Petrushikhina Elena Borisovna
Full Text Available The article is devoted to problem of association between job satisfaction and personal traits. The Five-Factor model is well-founded for predicting job satisfaction. Correlation analysis indicates high influence of Neuroticism, Extraversion, Agreeableness, Conscientiousness on job satisfaction. NEO-PI-R is recommended for measuring of personal traits in human resource management.
Embretson, Susan E.; Yang, Xiangdong
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…
Eichner, Edward R.
Sickle cell trait is generally benign and does not shorten life, but it may confer some small risk with extremes of exercise or altitude. Research concerning these risks is presented, and it is concluded sickle cell trait is no barrier to outstanding athletic performance. (Author/MT)
Mark John Costello
Full Text Available This paper reviews the utility and availability of biological and ecological traits for marine species so as to prioritise the development of a world database on marine species traits. In addition, the ‘status’ of species for conservation, that is, whether they are introduced or invasive, of fishery or aquaculture interest, harmful, or used as an ecological indicator, were reviewed because these attributes are of particular interest to society. Whereas traits are an enduring characteristic of a species and/or population, a species status may vary geographically and over time. Criteria for selecting traits were that they could be applied to most taxa, were easily available, and their inclusion would result in new research and/or management applications. Numerical traits were favoured over categorical. Habitat was excluded as it can be derived from a selection of these traits. Ten traits were prioritized for inclusion in the most comprehensive open access database on marine species (World Register of Marine Species, namely taxonomic classification, environment, geography, depth, substratum, mobility, skeleton, diet, body size and reproduction. These traits and statuses are being added to the database and new use cases may further subdivide and expand upon them.
Lo Muzio, Lorenzo
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...
Saltz, Julia B; Hessel, Frances C; Kelly, Morgan W
Thinking about the evolutionary causes and consequences of trait correlations has been dominated by quantitative genetics theory that is focused on hypothetical loci. Since this theory was initially developed, technology has enabled the identification of specific genetic variants that contribute to trait correlations. Here, we review studies of the genetic basis of trait correlations to ask: What has this new information taught us? We find that causal variants can be pleiotropic and/or linked in different ways, indicating that pleiotropy and linkage are not alternative genetic mechanisms. Further, many trait correlations have a polygenic basis, suggesting that both pleiotropy and linkage likely contribute. We discuss implications of these findings for the evolutionary causes and consequences of trait correlations. Copyright © 2017 Elsevier Ltd. All rights reserved.
Roberts, Brent W
In this article, I seek to update the sociogenomic model of personality traits (Roberts & Jackson, 2008). Specifically, I seek to outline a broader and more comprehensive theoretical perspective on personality traits than offered in the original version of the sociogenomic model of personality traits. First, I review the major points of our 2008 article. Second, I update our earlier model mostly with insights derived from a deeper reading of evolutionary theoretical systems, such as those found in life-history theory and ecological-evolutionary-developmental biology. In particular, this revision incorporates two evolutionary-informed systems, labeled pliable and elastic systems, that provide new insights into how personality traits develop. Third, I describe some of the implications of this new understanding of the biological and evolutionary architecture that underlies human phenotypes such as personality traits. © 2017 Wiley Periodicals, Inc.
O'Brien, Michael J.; Lyman, R. Lee; Mesoudi, Alex; VanPool, Todd L.
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. PMID:21041205
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.
NBCC syndrome; Gorlin-Goltz syndrome; Basal cell nevus syndrome; BCNS; Basal cell cancer - nevoid basal cell carcinoma syndrome ... Nevoid basal cell carcinoma nevus syndrome is a rare genetic ... syndrome is known as PTCH ("patched"). The gene is passed down ...
Hanefeld, Markolf; Pistrosch, Frank; Bornstein, Stefan R; Birkenfeld, Andreas L
In ancient Greek medicine the concept of a distinct syndrome (going together) was used to label 'a group of signs and symptoms' that occur together and 'characterize a particular abnormality and condition'. The (dys)metabolic syndrome is a common cluster of five pre-morbid metabolic-vascular risk factors or diseases associated with increased cardiovascular morbidity, fatty liver disease and risk of cancer. The risk for major complications such as cardiovascular diseases, NASH and some cancers develops along a continuum of risk factors into clinical diseases. Therefore we still include hyperglycemia, visceral obesity, dyslipidemia and hypertension as diagnostic traits in the definition according to the term 'deadly quartet'. From the beginning elevated blood pressure and hyperglycemia were core traits of the metabolic syndrome associated with endothelial dysfunction and increased risk of cardiovascular disease. Thus metabolic and vascular abnormalities are in extricable linked. Therefore it seems reasonable to extend the term to metabolic-vascular syndrome (MVS) to signal the clinical relevance and related risk of multimorbidity. This has important implications for integrated diagnostics and therapeutic approach. According to the definition of a syndrome the rapid global rise in the prevalence of all traits and comorbidities of the MVS is mainly caused by rapid changes in life-style and sociocultural transition resp. with over- and malnutrition, low physical activity and social stress as a common soil.
A. Yu. Chernikov
Full Text Available 404 sarcoidosis and 404 tuberculosis patients were examined in order to detect correlations between clinical manifestations, psychological adaptation and accentuation of personality traits and granulomatous lesions of respiratory organs in case of sarcoidosis and tuberculosis. All patients had subjective and objective examinations and answered the following questionnaires: Schmieschek questionnaire to identify accentuation of personality traits, clinical questionnaire to detect and evaluate neurotic disorders, Taylor Manifest Anxiety Scale to detect the level of anxiety. It has been found out that sarcoidosis patients are characterized both by asymptomatic course of the disease as well as diverse clinical manifestations: pain syndrome, nodal fever, intoxication with expressed general fatigue, respiratory insufficiency. It is combined with stuck, pedant, cycloid, exalted, emotive accentuations of personality traits, with psychological maladaptation as per the scores of autonomic imbalance, neurotic depression, asthenia, with average high level of anxiety. The following is typical of tuberculosis patients: syndrome of bronchial tree lesions and respiratory insufficiency; distymny, demonstrative, excitable, exalted, anxiety-hypochondriac accentuations of personality traits, with psychological maladaptation as per the scores of autonomic imbalance, obsessive-phobic disorders and hysteria; average high level of anxiety. The strong correlation has been found between the degree of symptoms expression, level of anxiety and psychological maladaptation and the type of patient's accentuation of personality traits.
Tripathy, Swagata; Mishra, Padmini; Dash, S C
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.
Bloom, Jacob; Upton, Joseph
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. Copyright © 2013 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.
Mubarak, S. J.; Pedowitz, R. A.; Hargens, A. R.
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.
Full Text Available Usher syndrome is an autosomal recessive disease with prevalence of 3–6/100.000 and is the most common syndrome that affects vision and hearing. Three subtypes are distinguished on the basis of different degree of hearing loss. All patients develop retinitis pigmentosa with night vision difficulties and constriction of visual field, and ultimately a decline in visual acuity and color vision. Future holds promise for gene therapy. We present a patient with typical clinical picture of Usher syndrome, who started noticing night vision problems at age 13. At age 25 he was operated on for posterior cortical cataracts. At age 34 he has only 5–10° of visual field remaining with 1.0 visual acuity in both eyes. Fundus autofluorescence imaging revealed a typical hyperautofluorescent ring on the border between normal and affected retina.
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
McCullough, Peter A; Ahmad, Aftab
Cardiorenal syndromes (CRS) have been subclassified as five defined entities which represent clinical circumstances in which both the heart and the kidney are involved in a bidirectional injury and dysfunction via a final common pathway of cell-to-cell death and accelerated apoptosis mediated by oxidative stress. Types 1 and 2 involve acute and chronic cardiovascular disease (CVD) scenarios leading to acute kidney injury or accelerated chronic kidney disease. Types 2 and 3 describe acute and chronic kidney disease leading primarily to heart failure, although it is possible that acute coronary syndromes, stroke, and arrhythmias could be CVD outcomes in these forms of CRS. Finally, CRS type 5 describes a simultaneous insult to both heart and kidneys, such as sepsis, where both organs are injured simultaneously. Both blood and urine biomarkers are reviewed in this paper and offer a considerable opportunity to enhance the understanding of the pathophysiology and known epidemiology of these recently defined syndromes. PMID:21286212
Full Text Available Dressler Syndrome (DS is a febrile illness secondary to an inflammatory reaction involving the pleura and pericardium. It is more common in patients who have undergone surgery that involves opening the pericardium. However, DS has also been described following myocardial infarction and as an unusual complication after percutaneous procedures such as coronary stent implantation, after implantation of epicardial pacemaker leads and transvenous pacemaker leads, and following blunt trauma, stab wounds, and heart puncture. Pericardial effusions often accompany the syndrome and may develop into early or late postoperative cardiac tamponade and even recurrent cardiac tamponade. The syndrome is also characterized by pericardial or pleuritic pain, pleural effusions, pneumonitis, and abnormal ECG and radiography findings.
Le Merrer Martine
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.
Vries, de A.G.
Reproduction 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
Pérez-Harguindeguy, N.; Díaz, S.; Garnier, E.; Jaureguiberry, P.; Poorter, L.; Steege, ter H.; Cornelissen, J.H.C.
Plant functional traits are the features (morphological, physiological, phenological) that represent ecological strategies and determine how plants respond to environmental factors, affect other trophic levels and influence ecosystem properties. Variation in plant functional traits, and trait
Pinheiro, Thaís Gonçalves
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.
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.
Gold, Mark S; Badgaiyan, Rajendra D; Blum, Kenneth
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. Copyright © 2015 Elsevier Inc. All rights reserved.
Wilkins, Adam S; Wrangham, Richard W; Fitch, W Tecumseh
Charles Darwin, while trying to devise a general theory of heredity from the observations of animal and plant breeders, discovered that domesticated mammals possess a distinctive and unusual suite of heritable traits not seen in their wild progenitors. Some of these traits also appear in domesticated birds and fish. The origin of Darwin's "domestication syndrome" has remained a conundrum for more than 140 years. Most explanations focus on particular traits, while neglecting others, or on the possible selective factors involved in domestication rather than the underlying developmental and genetic causes of these traits. Here, we propose that the domestication syndrome results predominantly from mild neural crest cell deficits during embryonic development. Most of the modified traits, both morphological and physiological, can be readily explained as direct consequences of such deficiencies, while other traits are explicable as indirect consequences. We first show how the hypothesis can account for the multiple, apparently unrelated traits of the syndrome and then explore its genetic dimensions and predictions, reviewing the available genetic evidence. The article concludes with a brief discussion of some genetic and developmental questions raised by the idea, along with specific predictions and experimental tests. Copyright © 2014 by the Genetics Society of America.
Mohammed Mahbubul Islam
Full Text Available Larsen syndrome is a rare inherited disorder characterized by congenital dislocation of multiple joints along with other anomalies of heart, face, hands and bones. Larsen syndrome was first described in 1950 by Larsen, Schottstaedt and Bost. In the present report, we describe a 10 year old girl who presented with mid facial hypoplasia with depressed nasal bridge, high arched palate, bilateral talipes equinovarus and high arched feet. On examination, she had short stature (HAZ -3.5 SD with hyperextension of knee joint, fixed flexion of elbow joint. Awareness of this condition and associated complications may help in management and follow up of these patients.
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
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.
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.
Nowosielska, Agnieszka; Czarnecki, Wojciech
The syndrome of intra-vitreous bleeding in association with subarachnoid haemorrhage (SAH) was first describe by French ophthalmologist Albert Terson in 1900. In last 10 years only a few cases were recorded. Early recognition of TS is of high importance, since diminution of visual acuity even to functional blindness, can hamper the rehabilitative process. The treatment methods are various, based on clinical manifestation. The surgical procedure of choice is the pars plana vitrectomy (PPV). The importance of being aware of the syndrome is very crucial, both in order to provide the adequate nursing care and to be able to perform early vitrectomy, to restore the visual function.
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.
O'Dwyer, D N
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.