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Sample records for childhood brugada syndrome

  1. Brugada syndrome

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    Bockeria O.L.

    2015-03-01

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

  2. Brugada syndrome

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    Rachel Bastiaenen

    2011-12-01

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

  3. Brugada syndrome

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    Priori Silvia G

    2006-09-01

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

  4. Understanding Brugada syndrome.

    Science.gov (United States)

    Gehshan, Janine Mary; Rizzolo, Denise

    2015-06-01

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

  5. Approach to Brugada Syndrome

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    Johnson Francis

    2016-01-01

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

  6. Approach to Brugada Syndrome

    Directory of Open Access Journals (Sweden)

    Johnson Francis

    2016-04-01

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

  7. Brugada Syndrome-An Update.

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    Oruganti Sai Satish

    2005-02-01

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

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

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    Laura Giambanco

    2014-01-01

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

  9. Ageing and Brugada syndrome: considerations and recommendations

    Institute of Scientific and Technical Information of China (English)

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

    2013-01-01

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

  10. BRUGADA SYNDROME-A CASE REPORT

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    Kuzevska-Maneva Konstandina

    2016-03-01

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

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

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    T. A. Pavlenko

    2016-01-01

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

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

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

    2016-08-01

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

  13. Characteristics of subjects with Brugada syndrome type electrocardiogram

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    Junttila, J.

    2008-01-01

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

  14. Brugada syndrome: A brand new case

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    Jurčević Ružica

    2009-01-01

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

  15. The Brugada syndrome. Outcome of one case

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    Maia Ivan G.

    2000-01-01

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

  16. Brugada Syndrome and PKP2: Evidences and uncertainties.

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

    2016-07-01

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

  17. The genetic component of Brugada Syndrome

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    Morten Wagner Nielsen

    2013-07-01

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

  18. [Brugada phenocopy].

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    Tomcsányi, János

    2016-03-01

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

  19. Brugada syndrome unmasked by accidental inhalation of gasoline vapors

    DEFF Research Database (Denmark)

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

    2007-01-01

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

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

    DEFF Research Database (Denmark)

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

    2009-01-01

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

  1. Brugada syndrome risk loci seem protective against atrial fibrillation

    DEFF Research Database (Denmark)

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

    2014-01-01

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

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

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

    2005-01-01

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

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

    OpenAIRE

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

    2010-01-01

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

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

    OpenAIRE

    Ivan Comelli; Gianfranco Cervellin; Tiziana Meschi; Loris Borghi

    2010-01-01

    This review summarizes the evidences in the literature on the management of the Brugada syndrome (BS), an arrhythmogenic disease caused by genetic channelopathies, predisposing to syncope and sudden cardiac death in young, apparently healthy, typically male subjects, in the third and fourth decade of their life. Sudden cardiac death (SCD) is defined as natural death from cardiac causes, heralded by abrupt loss of consciousness within one hour of the onset of symptoms. It ranks among the main ...

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

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    Patricia Chavez

    2014-01-01

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

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

    Institute of Scientific and Technical Information of China (English)

    孙振晓; 于相芬

    2015-01-01

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

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

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    Hisamatsu K

    2004-02-01

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

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

    NARCIS (Netherlands)

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

    2013-01-01

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

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

    Institute of Scientific and Technical Information of China (English)

    2002-01-01

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

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

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    Scherr D

    2003-01-01

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

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

    DEFF Research Database (Denmark)

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

    2009-01-01

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

  12. Brugada syndrome and its relevance in the perioperative period

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    Dan Sorajja

    2015-01-01

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

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

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    Juang Jyh-Ming

    2009-02-01

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

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

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    R Soleimanirad

    2013-04-01

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

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

    DEFF Research Database (Denmark)

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

    2013-01-01

    Brugada syndrome (BrS) is a rare and inherited primary arrhythmic syndrome characterized by ST-segment elevations in the right precordial leads (V1-V3) with an increased risk of sudden cardiac death (SCD). Arrhythmias in BrS are often nocturne, and brady-arrhythmias are often seen in patients with...

  16. C-Reactive Protein Levels in the Brugada Syndrome

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    Aimé Bonny

    2011-01-01

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

  17. Use of intravenous antiarrhythmics to identify concealed Brugada syndrome

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    Brugada Ramon

    2000-08-01

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

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

    OpenAIRE

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

    2014-01-01

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

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

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    I. Suliman

    2016-07-01

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

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

    OpenAIRE

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

    2007-01-01

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

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

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    Elisabet Selga

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

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

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    Ivan Comelli

    2010-09-01

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

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

    DEFF Research Database (Denmark)

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

    2012-01-01

    Brugada syndrome (BrS) is an inherited channelopathy that predisposes to malignant ventricular arrhythmias and thereby syncope and sudden cardiac death. Prior studies characterizing BrS patients have used highly selected referral populations from tertiary centres and prevalence estimates have bee...

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

    DEFF Research Database (Denmark)

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

    2014-01-01

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

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

    DEFF Research Database (Denmark)

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

    2013-01-01

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

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

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    Raimundo Carmona Puerta

    2010-06-01

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

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

    DEFF Research Database (Denmark)

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

    2009-01-01

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

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

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    Juan Jiménez-Jáimez

    2011-12-01

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

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

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    Philippon François

    2005-01-01

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

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

    DEFF Research Database (Denmark)

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

    2008-01-01

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

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

    DEFF Research Database (Denmark)

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

    2013-01-01

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

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

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    Jagadeesh K. Kalavakunta

    2010-01-01

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

  13. Atypical Cause of Syncope in Patients with Brugada Syndrome

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    Javier Lacunza-Ruiz

    2013-04-01

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

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

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    María Isabel Ruiz

    2011-09-01

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

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

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    Pietro Paolo Martorano

    2013-01-01

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

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

    DEFF Research Database (Denmark)

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

    2009-01-01

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

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

    DEFF Research Database (Denmark)

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

    2008-01-01

    AIMS: Brugada syndrome (BrS) is characterized by arrhythmias leading to sudden cardiac death. BrS is caused, in part, by mutations in the SCN5A gene, which encodes the sodium channel alpha-subunit Na(v)1.5. Here, we aimed to characterize the biophysical properties and consequences of a novel Br...

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

    DEFF Research Database (Denmark)

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

    2012-01-01

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

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

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    F. Frabetti

    2013-05-01

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

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

    Science.gov (United States)

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

    2015-04-01

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

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

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    Jyothsna

    2015-05-01

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

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

    DEFF Research Database (Denmark)

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

    2008-01-01

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

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

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    Maria Banci

    2011-01-01

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

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

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    Batchvarov V. N.

    2009-12-01

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

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

    Science.gov (United States)

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

    2013-02-01

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

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

    Directory of Open Access Journals (Sweden)

    Melissa Dakkak

    2015-01-01

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

  7. Brugada phenocopy: A new electrocardiogram phenomenon

    OpenAIRE

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

    2014-01-01

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

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

    International Nuclear Information System (INIS)

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

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

    Directory of Open Access Journals (Sweden)

    Elena Sommariva

    2012-09-01

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

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

    Science.gov (United States)

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

    2016-01-01

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

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

    DEFF Research Database (Denmark)

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

    2013-01-01

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

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

    DEFF Research Database (Denmark)

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

    2014-01-01

    Brugada Syndrome (BrS) is a rare inherited disease which can give rise to ventricular arrhythmia and ultimately sudden cardiac death. Numerous loss-of-function mutations in the cardiac sodium channel Nav1.5 have been associated with BrS. However, few mutations in the auxiliary Navβ1-4 subunits have...

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

    Directory of Open Access Journals (Sweden)

    WuQiang Fan

    2015-06-01

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

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

    Directory of Open Access Journals (Sweden)

    Carlos J Jaramillo

    2010-08-01

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

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

    OpenAIRE

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

    2008-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Anders G. Holst

    2009-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Yoshiyasu Aizawa

    2016-06-01

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

  18. Brugada electrocardiographic pattern elicited by cyclic antidepressants overdose

    NARCIS (Netherlands)

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

    2006-01-01

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

  19. [Frey syndrome in childhood].

    Science.gov (United States)

    Clarós, P; González-Enseñat, M A; Arimany, J; Vincente, M A; Clarós, A

    1993-01-01

    Frey's syndrome is distinguished by the appearing of erythema, sensation of hotness, sometimes pain, and transpiration discharge in the preauricular and temporal area when ingestion stars. We present an eleven month old child with this pathology and we review the etiology and clinic manifestations of this syndrome. PMID:8129975

  20. Sweet Syndrome in childhood.

    Science.gov (United States)

    Santos, Talita Batalha Pires dos; Sales, Barbara Cristina Gouveia; Sigres, Marianne; Rosman, Fernando; Cerqueira, Ana Maria Mosca de

    2015-01-01

    Sweet syndrome or acute febrile neutrophilic dermatosis is a recurrent and rare skin disease caused by the release of cytokines, with diverse possible etiologic causes. It presents clinically with polymorphic skin lesions, fever, arthralgia, and peripheral leukocytosis. In general, it is associated with infections, malignancy and drugs. It usually regresses spontaneously and treatment is primarily to control the basic disease. The authors report the case of a child of 1 year and 11 months who developed Sweet syndrome. PMID:26375229

  1. Chronic Fatigue Syndrome (CFS): Childhood Adversity

    Science.gov (United States)

    ... childhood maltreatment. In particular, for women, emotional and sexual abuse during childhood was associated with a greater risk ... risk for chronic fatigue syndrome: results from a population-based study. Arch Gen Psychiatry. 2006 Nov;63( ...

  2. Sweet Syndrome in childhood*

    OpenAIRE

    dos Santos, Talita Batalha Pires; Sales, Barbara Cristina Gouveia; Sigres, Marianne; Rosman, Fernando; de Cerqueira, Ana Maria Mosca

    2015-01-01

    Sweet syndrome or acute febrile neutrophilic dermatosis is a recurrent and rare skin disease caused by the release of cytokines, with diverse possible etiologic causes. It presents clinically with polymorphic skin lesions, fever, arthralgia, and peripheral leukocytosis. In general, it is associated with infections, malignancy and drugs. It usually regresses spontaneously and treatment is primarily to control the basic disease. The authors report the case of a child of 1 year and 11 months who...

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

    OpenAIRE

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

    2013-01-01

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

  4. Síndrome de Brugada durante el embarazo

    Directory of Open Access Journals (Sweden)

    Eduardo Reyna Villasmil

    2013-09-01

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

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

    Science.gov (United States)

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

    2015-06-01

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

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

    Institute of Scientific and Technical Information of China (English)

    潘洁; 姚文亮; 胡康新(综述)

    2015-01-01

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

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

    Institute of Scientific and Technical Information of China (English)

    余剑波; 郭继鸿

    2003-01-01

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

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

    OpenAIRE

    Belinda Sandler; Steve Furniss; Eric McWilliams

    2011-01-01

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

  9. Turner syndrome in childhood and adolescence

    OpenAIRE

    McCarthy, Kateri; Bondy, Carolyn A

    2008-01-01

    This article reviews current patterns of ascertainment, clinical characteristics and quality of care for girls with Turner syndrome, based on a cohort of 100 girls (aged 7–17 years) prospectively evaluated at the National Institute of Child Health since 2001. Approximately 25% were diagnosed prenatally or at birth owing to webbed neck and other features typical of fetal lymphedema, few were diagnosed during early childhood, with the majority undiagnosed until age 9 years or older. Major clini...

  10. IER3 Expression in Childhood Myelodysplastic Syndrome

    DEFF Research Database (Denmark)

    de Vries, Andrica; Zwaan, Christian M.; Danen van Ooschot, Astrid;

    Background: Childhood myelodysplastic syndrome (MDS) is a rare disease accounting for less than 5% of all hematological malignancies. In about 50% of the MDS cases an abnormal karyotype is found by conventional karyotyping, of which chromosome 6 is involved in 10%. The immediate-early-response 3...... aberrations and that low IER3 expression was associated with a worse outcome. Therefore, we investigated the frequency and prognostic impact of IER3 expression in childhood MDS. Methods: IER3 mRNA expression was determined by quantitative real-time PCR in 58 childhood MDS patients of which 17 carried a.......01–73.3% relative to GAPDH expression) and 3.3% in normal bone marrow (range 0.81–85.5% relative to GAPDH expression) (p=0.05). A more than 4-fold decrease in IER3 expression below the mean of healthy controls was found in 74% (43/58) of the childhood MDS patients. There was no difference in IER3 mRNA expression...

  11. The metabolic syndrome and body composition in childhood cancer survivors

    OpenAIRE

    Jae Hoon Chung; Ki Woong Sung; Keon hee Yoo; Soo Hyun Lee; Sung-Yoon Cho; Se-Hwa Kim; Sung Won Park; Su Jin Kim; Young Bae Sohn; Hong Hoe Koo; Dong-Kyu Jin

    2011-01-01

    Purpose : Long-term survivors of childhood cancer appear to have an increased risk for the metabolic syndrome, subsequent type 2 diabetes and cardiovascular disease in adulthood compared to healthy children. The purpose of this study was to investigate the frequency of the metabolic syndrome and associated factors in childhood cancer survivors at a single center in Korea. Methods : We performed a retrospective review of medical records of 98 childhood cancer survivors who were diagnosed and c...

  12. IRRITABLE BOWEL SYNDROME: Relationships with Abuse in Childhood

    OpenAIRE

    Sansone, Randy A.; Sansone, Lori A.

    2015-01-01

    Irritable bowel syndrome is allegedly the most common gastrointestinal diagnosis in the United States. The etiology of this syndrome appears to entail the interaction of both genes and the environment. One potential environmental contributory factor to irritable bowel syndrome is abuse in childhood. Of the various forms of abuses previously examined, sexual abuse in childhood appears to be the most patent contributor. However, both emotional and physical abuses may also contribute to irritabl...

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

    Institute of Scientific and Technical Information of China (English)

    黄少娜

    2015-01-01

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

  14. Genetics Home Reference: Brugada syndrome

    Science.gov (United States)

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

  15. Childhood Sexual Abuse and Psychosomatic Symptoms in Irritable Bowel Syndrome

    Science.gov (United States)

    Ross, Colin A.

    2005-01-01

    Irritable bowel syndrome is characterized by chronic gastrointestinal symptoms without a demonstrable physical cause. In a subgroup of patients, irritable bowel syndrome may be part of a cluster of psychosomatic symptoms related to childhood sexual abuse. To investigate this possibility, the Dissociative Disorders Interview Schedule (DDIS), the…

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

    DEFF Research Database (Denmark)

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

    2012-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Belinda Sandler

    2011-11-01

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

  18. Severe childhood malaria syndromes defined by plasma proteome profiles.

    Directory of Open Access Journals (Sweden)

    Florence Burté

    Full Text Available BACKGROUND: Cerebral malaria (CM and severe malarial anemia (SMA are the most serious life-threatening clinical syndromes of Plasmodium falciparum infection in childhood. Therefore it is important to understand the pathology underlying the development of CM and SMA, as opposed to uncomplicated malaria (UM. Different host responses to infection are likely to be reflected in plasma proteome-patterns that associate with clinical status and therefore provide indicators of the pathogenesis of these syndromes. METHODS AND FINDINGS: Plasma and comprehensive clinical data for discovery and validation cohorts were obtained as part of a prospective case-control study of severe childhood malaria at the main tertiary hospital of the city of Ibadan, an urban and densely populated holoendemic malaria area in Nigeria. A total of 946 children participated in this study. Plasma was subjected to high-throughput proteomic profiling. Statistical pattern-recognition methods were used to find proteome-patterns that defined disease groups. Plasma proteome-patterns accurately distinguished children with CM and with SMA from those with UM, and from healthy or severely ill malaria-negative children. CONCLUSIONS: We report that an accurate definition of the major childhood malaria syndromes can be achieved using plasma proteome-patterns. Our proteomic data can be exploited to understand the pathogenesis of the different childhood severe malaria syndromes.

  19. Glucocorticoid Treatment in Childhood Nephrotic Syndrome : weighting the cornerstone

    NARCIS (Netherlands)

    N. Teeninga (Nynke)

    2013-01-01

    textabstractUnderstanding which factors influence relapse patterns in childhood nephrotic syndrome is clinically very relevant and could aid in developing new treatment strategies. Clinicians are continuously challenged to reduce relapse rates and at the same time to avoid glucocorticoid toxicity. B

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

    Institute of Scientific and Technical Information of China (English)

    田莉; 祝建芳; 杨钧国; 朱元州; 柯琴梅

    2013-01-01

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

  1. Long-term Outcomes of Childhood Onset Nephrotic Syndrome

    Science.gov (United States)

    Hjorten, Rebecca; Anwar, Zohra; Reidy, Kimberly Jean

    2016-01-01

    There are limited studies on long-term outcomes of childhood onset nephrotic syndrome (NS). A majority of children with NS have steroid-sensitive nephrotic syndrome (SSNS). Steroid-resistant nephrotic syndrome (SRNS) is associated with a high risk of developing end-stage renal disease. Biomarkers and analysis of genetic mutations may provide new information for prognosis in SRNS. Frequently relapsing and steroid-dependent NS is associated with long-term complications, including dyslipidemia, cataracts, osteoporosis and fractures, obesity, impaired growth, and infertility. Long-term complications of SSNS are likely to be under-recognized. There remain many gaps in our knowledge of long-term outcomes of childhood NS, and further study is indicated. PMID:27252935

  2. Childhood Nutrition in Predicting Metabolic Syndrome in Adults

    OpenAIRE

    Jääskeläinen, Paula; Magnussen, Costan G.; Pahkala, Katja; Mikkilä, Vera; Kähönen, Mika; Sabin, Matthew A.; Fogelholm, Mikael; Hutri-Kähönen, Nina; Taittonen, Leena; Telama, Risto; Laitinen, Tomi; Jokinen, Eero; Lehtimäki, Terho; Viikari, Jorma S. A.; Raitakari, Olli T.

    2012-01-01

    OBJECTIVE Our aim was to study the associations of childhood lifestyle factors (the frequency of consumption of vegetables, fruit, fish, and meat, butter use on bread, and physical activity) with the metabolic syndrome (MetS) in adulthood. RESEARCH DESIGN AND METHODS The study cohort consisted of 2,128 individuals, 3–18 years of age at the baseline, with a follow-up time of 27 years. We used the average of lifestyle factor measurements taken in 1980, 1983, and 1986 in the analyses. Childhood ...

  3. Underlying molecular and cellular mechanisms in childhood irritable bowel syndrome.

    Science.gov (United States)

    Chumpitazi, Bruno P; Shulman, Robert J

    2016-12-01

    Irritable bowel syndrome (IBS) affects a large number of children throughout the world. The symptom expression of IBS is heterogeneous, and several factors which may be interrelated within the IBS biopsychosocial model play a role. These factors include visceral hyperalgesia, intestinal permeability, gut microbiota, psychosocial distress, gut inflammation, bile acids, food intolerance, colonic bacterial fermentation, and genetics. The molecular and cellular mechanisms of these factors are being actively investigated. In this mini-review, we present updates of these mechanisms and, where possible, relate the findings to childhood IBS. Mechanistic elucidation may lead to the identification of biomarkers as well as personalized childhood IBS therapies. PMID:26883355

  4. The metabolic syndrome and body composition in childhood cancer survivors

    Directory of Open Access Journals (Sweden)

    Jae Hoon Chung

    2011-06-01

    Full Text Available Purpose : Long-term survivors of childhood cancer appear to have an increased risk for the metabolic syndrome, subsequent type 2 diabetes and cardiovascular disease in adulthood compared to healthy children. The purpose of this study was to investigate the frequency of the metabolic syndrome and associated factors in childhood cancer survivors at a single center in Korea. Methods : We performed a retrospective review of medical records of 98 childhood cancer survivors who were diagnosed and completed anticancer treatment at Samsung Medical Center, Seoul, Korea between Jan. 1996 and Dec. 2007. Parameters of metabolic syndrome were evaluated between Jan. 2008 and Dec. 2009. Clinical and biochemical findings including body fat percentage were analyzed. Results : A total of 19 (19.4% patients had the metabolic syndrome. The median body fat percentage was 31.5%. The body mass index and waist circumference were positively correlated with the cranial irradiation dose (r=0.38, P&lt;0.001 and r=0.44, P&lt;0.00, respectively. Sixty-one (62.2% patients had at least one abnormal lipid value. The triglyceride showed significant positive correlation with the body fat percentage (r=0.26, P=0.03. The high density lipoprotein cholesterol showed significant negative correlation with the percent body fat (r=- 0.26, P=0.03. Conclusion : Childhood cancer survivors should have thorough metabolic evaluation including measurement of body fat percentage even if they are not obese. A better understanding of the determinants of the metabolic syndrome during adolescence might provide preventive interventions for improving health outcomes in adulthood.

  5. Unusual Cause of Childhood Anemia: Imerslund Grasbeck Syndrome

    OpenAIRE

    Kishan Prasad Hosapatna Laxminarayana; Sunil Kumar Yeshvanth; Shetty, Jayaprakash K; Harish S Permi; Chandrika Rao

    2011-01-01

    Imerslund Grasbeck syndrome (IGS) is a rare autosomal recessive childhood disorder characterized by selective Vitamin (vit) B 12 malabsorption with asymptomatic proteinuria without any structural renal pathology. The patients stay healthy for decades with life-long parenteral vit B12. We report a case of young female who presented with pancytopenia and proteinuria, evaluated in local hospitals as chronic hemolytic anemia (autoimmune cause), finally diagnosed as IGS on complete evaluation. She...

  6. Childhood obesity and the metabolic syndrome in developing countries.

    Science.gov (United States)

    Gupta, Nidhi; Shah, Priyali; Nayyar, Sugandha; Misra, Anoop

    2013-03-01

    Rapidly changing dietary practices accompanied by an increasingly sedentary lifestyle predispose to nutrition-related non-communicable diseases, including childhood obesity. Over the last 5 y, reports from several developing countries indicate prevalence rates of obesity (inclusive of overweight) >15 % in children and adolescents aged 5-19 y; Mexico 41.8 %, Brazil 22.1 %, India 22.0 % and Argentina 19.3 %. Moreover, secular trends also indicate an alarming increase in obesity in developing countries; in Brazil from 4.1 % to 13.9 % between 1974 and 1997; in China from 6.4 % to 7.7 % between 1991 and 1997; and in India from 4.9 % to 6.6 % between 2003-04 to 2005-06. Other contributory factors to childhood obesity include: high socio-economic status, residence in metropolitan cities and female gender. Childhood obesity tracks into adulthood, thus increasing the risk for conditions like the metabolic syndrome, type 2 diabetes mellitus (T2DM), polycystic ovarian syndrome, hypertension, dyslipidemia and coronary artery disease later in life. Interestingly, prevalence of the metabolic syndrome was 35.2 % among overweight Chinese adolescents. Presence of central obesity (high waist-to-hip circumference ratio) along with hypertriglyceridemia and family history of T2DM increase the odds of T2DM by 112.1 in young Asian Indians (educational programs for children should be immediately initiated in developing countries, following the successful model program in India (project 'MARG'). PMID:23334584

  7. Practitioner Review: Chronic Fatigue Syndrome in Childhood

    Science.gov (United States)

    Garralda, M. Elena; Chalder, Trudie

    2005-01-01

    RBackground: Chronic fatigue syndrome (CFS) is being increasingly recognized in children and adolescents. Yet comparatively little attention has been given in the literature to management. Methods: Description of the main features of the disorder, precipitating and maintaining factors and diagnostic assessment. Outline of different views on the…

  8. Complex karyotype newly defined: The strongest prognostic factor in advanced childhood myelodysplastic syndrome

    NARCIS (Netherlands)

    G. Göhring (Gudrun); K. Michalova (Kyra); H.B. Beverloo (Berna); D. Betts (David); J. Harbott (Jochen); O.A. Haas (Oskar); G. Kerndrup (Gitte); L. Sainati (Laura); E. Bergstraesser (Eva); H. Hasle (Henrik); J. Stary (Jan); M. Trebo (Monica); M.M. van den Heuvel-Eibrink (Marry); M. Zecca (Marco); E.R. van Wering (Elisabeth); A. Fischer (Alexandra); P. Noellke (Peter); B. Strahm (Brigitte); F. Locatelli (Franco); C.M. Niemeyer (Charlotte); B. Schlegelberger (Brigitte)

    2010-01-01

    textabstractTo identify cytogenetic risk factors predicting outcome in children with advanced myelodysplastic syndrome, overall survival of 192 children prospectively enrolled in European Working Group of Myelodysplastic Syndrome in Childhood studies was evaluated with regard to karyotypic complexit

  9. Management of idiopathic nephrotic syndrome in childhood

    Directory of Open Access Journals (Sweden)

    Peco-Antić Amira

    2004-01-01

    Full Text Available The management of idiopathic nephrotic syndrome (INS in children includes immunosuppressive and symptomatic treatment. The response to corticosteroid therapy is the best prognostic marker of the disease. The majority of children with INS (about 85% are steroid-sensitive as they normalize proteinuria within 4 weeks of daily, oral prednisone administration. The most of steroid-sensitive patients (94% has minimal change of nephrotic syndrome, while the majority (80.5%-94.4% of those who are steroid-resistant has focal segmental glomerulosderosis or mesangioproliferative glomerulonephritis. Initial therapy of INS consists of 60 mg/m2/day prednisone daily for 4 weeks followed by 40 mg/m2 on alternate days for 4 weeks, thereafter decreasing alternate day therapy every month by 25% over the next 4 months. Thus, the overall duration of the initial cortico-steroids course is 6 months that may be significantly protective against the future development of frequent relapses. Approximately 30% of patients experience only one attack and are cured after the first course of therapy; 10-20% have only 3 or 4 steroid-responsive episodes before permanent cure; the remaining 40-50% of patients are frequent relapsers, or steroid-dependent. Standard relapse therapy consists of 60 mg/m2/ day prednisone until urine is protein free for at least 3 days, followed by 40 mg/m2 on alternate days for 4 weeks. The treatment of frequent-relapses and steroid-dependent INS includes several different regimens: maintenance (6 months alternate steroid therapy just above steroid threshold (0.1-0.5 mg/kg/ 48h, levamisole, alkylating agents (cyclophosphamide or chlorambucil or cyclosporine. The worse prognosis is expected in steroid-resistant patients who are the most difficult to treat. Renal biopsy should be performed in them. At present, there is no consensus on therapeutic regimen for steroid-resistant patients. The following immunosuppressive drugs have been used with varying

  10. Unusual cause of childhood anemia: Imerslund Grasbeck syndrome.

    Science.gov (United States)

    Laxminarayana, Kishan Prasad Hosapatna; Yeshvanth, Sunil Kumar; Shetty, Jayaprakash K; Permi, Harish S; Rao, Chandrika

    2011-07-01

    Imerslund Grasbeck syndrome (IGS) is a rare autosomal recessive childhood disorder characterized by selective Vitamin (vit) B 12 malabsorption with asymptomatic proteinuria without any structural renal pathology. The patients stay healthy for decades with life-long parenteral vit B12. We report a case of young female who presented with pancytopenia and proteinuria, evaluated in local hospitals as chronic hemolytic anemia (autoimmune cause), finally diagnosed as IGS on complete evaluation. She was treated with injectable vit B12 (1000 μg cyanocobalalmin) and showed drastic recovery. IGS should be considered in patients with megaloblastic anemia not responding to oral vit B12 and associated proteinuria. PMID:22219566

  11. Unusual cause of childhood anemia: Imerslund grasbeck syndrome

    Directory of Open Access Journals (Sweden)

    Kishan Prasad Hosapatna Laxminarayana

    2011-01-01

    Full Text Available Imerslund Grasbeck syndrome (IGS is a rare autosomal recessive childhood disorder characterized by selective Vitamin (vit B 12 malabsorption with asymptomatic proteinuria without any structural renal pathology. The patients stay healthy for decades with life-long parenteral vit B12. We report a case of young female who presented with pancytopenia and proteinuria, evaluated in local hospitals as chronic hemolytic anemia (autoimmune cause, finally diagnosed as IGS on complete evaluation. She was treated with injectable vit B12 (1000 μg cyanocobalalmin and showed drastic recovery. IGS should be considered in patients with megaloblastic anemia not responding to oral vit B12 and associated proteinuria.

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

    Institute of Scientific and Technical Information of China (English)

    丁玉琴

    2008-01-01

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

  13. Childhood opsoclonus-myoclonus syndrome: diagnosis and treatment.

    Science.gov (United States)

    Blaes, Franz; Dharmalingam, Backialakshmi

    2016-06-01

    Opsoclonus-myoclonus syndrome (OMS) is a rare and primarily immune-mediated disease in children and adults. The main symptoms include opsoclonus, myoclonus and ataxia. In children, the symptoms also include irritability, and, over a long-term course, learning and behavioural disturbances. OMS can be idiopathic, parainfectious or occur as a paraneoplastic (tumour-associated) syndrome. Paraneoplastic OMS in children is almost exclusively associated with neuroblastoma, whereas in adults, small cell lung cancer and breast cancer are the main underlying tumours. An autoimmune pathophysiology is suspected because childhood OMS patients have functionally active autoantibodies, proinflammatory changes in the cytokine network and immunotherapy responses. Children appear to respond regularly to immunosuppressive treatment. However, although the neurological symptoms show a good response, most children continue to show neuropsychological disturbances. PMID:27095464

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

    DEFF Research Database (Denmark)

    Svendsen, Jesper Hastrup; Geelen, Peter

    2010-01-01

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

  15. Hyperinsulinemia and waist circumference in childhood metabolic syndrome

    International Nuclear Information System (INIS)

    To determine the characteristics of obese children presenting at a tertiary care hospital and the frequency of metabolic syndrome (MS) in them using two paediatric definitions. A total of 262 obese children aged 4-16 years, with BMI greater than 95 percentile were included. Children having obesity due to syndromes, medications causing weight gain, chronic illness and developmental disability were excluded. Blood pressure, waist circumference, fasting triglycerides, HDL, insulin and glucose levels were obtained. Obesity was defined as BMI > 95 percentile for age and gender according to the UK growth reference charts. The prevalence of metabolic syndrome was estimated using to the De Ferrantis and Lambert definitions. The frequency of MS varied between 16% and 52% depending on whether insulin levels were included in the definition. There was a significant positive correlation(r) when the metabolic parameters were correlated with waist circumference and insulin levels, except HDL which was negatively correlated. All the metabolic parameters like waist circumference, triglycerides, high density lipoprotein cholesterol and systolic blood pressure increased considerably across the insulin quartile (p < 0.05). The most noteworthy anthropometric and metabolic abnormality were the waist circumference (46.5%) and insulin levels (58%) respectively. There was a marked difference in the frequency of metabolic syndrome according to the definition used. The waist circumference and hyperinsulinemia are significant correlates of MS in obese children. There is a need for establishing normal insulin ranges according to age, gender and pubertal status. The clinical examination and investigations ought to include waist circumference and insulin levels together as a part of the definition of MS, for early detection and intervention of childhood obesity. (author)

  16. The genetic component of Brugada syndrome

    DEFF Research Database (Denmark)

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

    2013-01-01

    . 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...

  17. EKG-Beispiel: Brugada-Syndrom

    Directory of Open Access Journals (Sweden)

    Rauscha F

    2005-01-01

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

  18. Brugada Syndrome%Brugada綜合徵

    Institute of Scientific and Technical Information of China (English)

    鍾桃娟; 金椿; 鄧錫偉

    2004-01-01

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

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

    Institute of Scientific and Technical Information of China (English)

    严霞; 孔伟; 曹华

    2010-01-01

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

  20. Epidemiological characteristics of childhood migraine syndrome in Serbia

    Institute of Scientific and Technical Information of China (English)

    Marija Kne(z)evi(c)-Pogan(c)ev; Neboj(s)a Jovi(c); Vesna Iveti(c); Danka Filipovi(c); Dragan Katani(c)

    2011-01-01

    This study investigated childhood migraine, examining the clinical characteristics of different childhood migraine types, predisposing factors, and possible medical treatments in a sample of children in Serbia. This was the first epidemiological study in Serbia using the operational diagnostic criteria of the International Headache Society. The present study examined 30 636 children between 1988 and 2006, including 15 434 (50.38%) males and 15 202 (49.62%) females, in nine towns in Vojvodina, a northern province in Serbia. Migraine was reported in 2 644 (8.63%) children aged 3 to 7 years, consisting of 1 189 (8.0%) males and 1 455 (9.6%) females. Migraine with aura accounted for 25.55%, migraine without aura for 67.21% and other migraine syndromes for 7.23% of reported migraine sufferers. The mean age of first migraine attack across groups was 5 years and 1.8 months. Migraine with aura was associated with an earlier onset than migraine without aura.Migraine was more frequent among younger groups of children who were breastfed for a shorter period of time. Child healthcare in Vojvodina has a high level of specialization, with more than half of the children reporting migraine diagnosed and treated by neuropediatricians. Socioeconomic status,duration of breastfeeding, birth order, and age of entering full-day nursery care were found to be important factors for childhood migraine. These findings suggest that healthcare providers should educate parents about these predisposing factors, so they can be identified and avoided early.

  1. Clinical Research on Treatment of Hyperkinetic Syndrome of Childhood by Electroacupuncture plus Acupoint Application

    Institute of Scientific and Technical Information of China (English)

    WU Yao-chi; KUAI Le

    2003-01-01

    Objective To observe the clinical therapeu tic effect of hyperkinetic syndrome of childhood treated by electroacupuncture plus acupoint application. Method Sixty-five cases with hyperkinetic syndrome of childhood were treated by electroacupuncture plus acupoint application (electroacupuncture group); 53 cases were treated by acupuncture (acupuncture group) and 53 cases were treated by Ritalin (west drug group). The above three groups were compared with each other in therapeutic effect. Results The effective rate of treating hyperkinetic syndrome of childhood by electroacupuncture plus acupoint application was 87.7%; the effective rate in west drug group was 86.8% and in acupuncture group was 77.4%. A comparison among the three groups showed there was no significant difference in clinical ther apeutic effect ( P > 0.05 ). Conclusion Electroacupuncture plus acupoint application was an effective therapy of hyperkinetic syndrome of childhood.

  2. Childhood sexual trauma in women with interstitial cystitis/bladder pain syndrome

    DEFF Research Database (Denmark)

    Nickel, J Curtis; Tripp, Dean A; Pontari, Michel;

    2011-01-01

    The impact of early lifetime trauma on symptom severity and quality of life of patients with interstitial cystitis/bladder pain syndrome (IC/BPS) has not been fully elucidated. We wanted to determine and compare the prevalence and impact of childhood traumatic events, with an emphasis on childhood...

  3. CHILDHOOD GUILLIAN-BARRE SYNDROME IN THE IRAN’S EAST AZERBAIJAN PROVINCE: 2001-2005

    Directory of Open Access Journals (Sweden)

    M. Barzegar

    2009-01-01

    Full Text Available  ObjectiveThis study aims at determining the epidemiologic, presenting symptoms, clinical course and electrophysiologic features of childhood Guillain-Barre Syndrome (GBS in the East Azarbaijan province over a period of five years.Materials & Methods All the patients, agedResultsOne hundred and twelve subjects were enrolled during this period. The average annual incidence rate was 2.21 per 100000 population of children agedConclusion The axonal type of GBS is a relatively common form of childhood GBS occurring in East Azerbaijan.Keywords: Guillian-Barre syndrome , Childhood, Epidemiology, Electrodiagnosis, Clinical features, East Azarbaijan

  4. The non-immunosuppressive management of childhood nephrotic syndrome.

    Science.gov (United States)

    McCaffrey, James; Lennon, Rachel; Webb, Nicholas J A

    2016-09-01

    Idiopathic nephrotic syndrome (INS) is one of the most common renal diseases found in the paediatric population and is associated with significant complications, including infection and thrombosis. A high proportion of children enter sustained remission before adulthood, and therapy must therefore mitigate the childhood complications, while minimising the long-term risk to health. Here we address the main complications of INS and summarise the available evidence and guidance to aid the clinician in determining the appropriate treatment for children with INS under their care. Additionally, we highlight areas where no consensus regarding appropriate management has been reached. In this review, we detail the reasons why routine prophylactic antimicrobial and antithrombotic therapy are not warranted in INS and emphasise the conservative management of oedema. When pharmacological intervention is required for the treatment of oedema, we provide guidance to aid the clinician in determining the appropriate therapy. Additionally, we discuss obesity and growth, fracture risk, dyslipidaemia and thyroid dysfunction associated with INS. Where appropriate, we describe how recent developments in research have identified potential novel therapeutic targets. PMID:26556028

  5. Brugada 综合征1例

    Institute of Scientific and Technical Information of China (English)

    孙春荣

    2003-01-01

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

  6. The Relations between Enuresis in Childhood and Nocturnal Polyuria Syndrome in Adult Life

    OpenAIRE

    Ciftci, Halil; Savas, Murat; Altunkol, Adem; Öncel, Halil; Yeni, Ercan; Verit, Ayhan

    2012-01-01

    Purpose The aim of this study, to investigate whether there is any association between enuresis in childhood and nocturnal polyuria syndrome (NPS) in adult life. Methods The study consisted of thirty five patients with nocturnal polyuria, and thirty five healthy people without nocturnal polyuria in adult life, were asked to assess their enuresis in childhood. Results There was a history of enuresis in childhood in 18 (51.42%) of 35 of men with nocturnal polyuria and in 4 (11.42%) of 35 withou...

  7. Childhood Ataxia with Cerebral Hypomyelination Syndrome: a Variant of Patient with Early Childhood Onset Related to EIF2B3 Mutation. A Case Report.

    Science.gov (United States)

    Perfetto, F; Stoppino, L P; Calì, A; Milillo, P; Grilli, G; Vinci, R; Macarini, L

    2012-03-01

    Childhood ataxia with central nervous system hypomyelination (CACH) syndrome is an autosomal recessive transmitted leukodystrophy characterised by early childhood onset and acute deterioration following febrile illnesses or head trauma. We describe the case of a child with early onset of CACH syndrome. He presented with cerebellar ataxia beginning around two years of age with mild mental retardation. MRI showed diffuse white matter signal changes with thinning of the corpus callosum. PMID:24028880

  8. [Observations of play and verbal behavior of boys with fragile X syndrome in early childhood].

    Science.gov (United States)

    Sarimski, K

    1999-08-01

    Reports on development and behaviour in boys with fragile-X syndrome support the idea of a characteristic behavioural phenotype in this special population. Preliminary results are presented for 10 boys with fragile-X syndrome in early childhood. Severe mental handicaps and communicative abnormalities are observed less frequently than was expected on the basis of results reported for school-age children or adults. Boys with fragile-X syndrome show goal-directed and cooperative play behaviours in a Montessori play session, but less persistence and organisation than children with normal development or a mental handicap of heterogeneous origin. Results confirmed these behavioural differences as characteristic aspects of a "behavioural phenotype" in children who already in early childhood have fragile-X syndrome. PMID:10478436

  9. Childhood Physical Abuse Is Associated with Incident Metabolic Syndrome in Mid-Life Women

    Science.gov (United States)

    Midei, Aimee J.; Matthews, Karen A.; Chang, Yue-Fang; Bromberger, Joyce T.

    2013-01-01

    Objective Previous research has suggested that childhood emotional abuse, physical abuse, and sexual abuse are associated with an increased risk for ischemic heart disease. Our objective was to examine whether childhood abuse predicted incident metabolic syndrome, a precursor to heart disease, in mid-life women. Methods Participants were 342 (114 Black, 228 White) women from the Pittsburgh site of the Study of Women’s Health Across the Nation (SWAN). SWAN included a baseline assessment of premenopausal or early perimenopausal women in midlife (mean age = 45.7), and women were evaluated for presence of the metabolic syndrome over 7 annual follow-up visits. Women were classified as having metabolic syndrome if they met 3 of the following criteria: waist circumference > 88 cm, triglycerides ≥ 150 mg/dl, HDL < 50 mg/dl, SBP ≥ 130 or DBP ≥ 85 mmHg or on blood pressure medication, and fasting glucose ≥ 110 mg/dl or diabetic. The Childhood Trauma Questionnaire is a standardized measure that retrospectively assesses three domains of abuse in childhood and adolescence: emotional, physical, and sexual abuse. Results Approximately 34% of the participants reported a history of abuse. Cox model survival analysis showed that physical abuse was associated with incident metabolic syndrome over the course of seven years (HR = 2.12, p = .02), adjusted for ethnicity, age at baseline, and time-dependent menopausal status. Sexual abuse and emotional abuse were unrelated to the metabolic syndrome. Conclusion This is the first study to show that a history of childhood abuse, specifically physical abuse, is related to the development of metabolic syndrome in mid-life women. PMID:22775234

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

    Institute of Scientific and Technical Information of China (English)

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

    2015-01-01

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

  11. Childhood sexual trauma in women with interstitial cystitis/bladder pain syndrome

    DEFF Research Database (Denmark)

    Nickel, J Curtis; Tripp, Dean A; Pontari, Michel; Moldwin, Robert; Mayer, Robert; Carr, Lesley K; Doggweiler, Ragi; Yang, Claire C; Mishra, Nagendra; Nordling, Jorgen

    2011-01-01

    The impact of early lifetime trauma on symptom severity and quality of life of patients with interstitial cystitis/bladder pain syndrome (IC/BPS) has not been fully elucidated. We wanted to determine and compare the prevalence and impact of childhood traumatic events, with an emphasis on childhoo...... sexual abuse, on patient symptoms, quality of life and other biopsychosocial parameters....

  12. Unique metabolic characteristics of the major syndromes of severe childhood malnutrition

    Science.gov (United States)

    The major clinical syndromes of severe childhood malnutrition (SCM) are marasmus, kwashiorkor and marasmic-kwashiorkor. Whereas treatment of marasmus is straightforward and the associated mortality is low, kwashiorkor and marasmic-kwashiorkor are difficult to treat and have high morbidity and mortal...

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

    DEFF Research Database (Denmark)

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

    2011-01-01

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

  14. Adults with Asperger Syndrome: A Childhood Disorder Grows Up

    Science.gov (United States)

    Wilkinson, Lee A.

    2007-01-01

    Asperger syndrome is a chronic developmental disorder characterized by problems in social relatedness, empathic communication and understanding, and circumscribed interests. The inclusion of Asperger's Disorder (Asperger syndrome) in the "Diagnostic and Statistical Manual of Mental Disorders" (DSM-IV; American Psychiatric Association, 1994), has…

  15. Molecular determinants of juvenile myelomonosytic leukemia and childhood myelodysplastic syndrome

    NARCIS (Netherlands)

    A.C.H. de Vries (Andrica)

    2012-01-01

    textabstractIn the general population the probability of developing cancer before the age of 18 years is around 1 in 400. In the Netherlands, approximately 600 new children each year are diagnosed with cancer (Figure 1). The most common types of childhood cancer are leukemias and the distribution of

  16. The prospective association between childhood cognitive ability and somatic symptoms and syndromes in adulthood : the 1958 British birth cohort

    NARCIS (Netherlands)

    Kingma, Eva M.; Rosmalen, Judith G. M.; White, Peter D.; Stansfeld, Stephen A.; Clark, Charlotte

    2013-01-01

    BACKGROUND: Cognitive ability is negatively associated with functional somatic symptoms (FSS) in childhood. Lower childhood cognitive ability might also predict FSS and functional somatic syndromes in adulthood. However, it is unknown whether this association would be modified by subjective and obje

  17. Childhood Sjögren syndrome presenting as acute brainstem encephalitis.

    Science.gov (United States)

    Matsui, Yoriko; Takenouchi, Toshiki; Narabayashi, Atsushi; Ohara, Kentaro; Nakahara, Tadaki; Takahashi, Takao

    2016-01-01

    Sjögren syndrome is an autoimmune disease characterized by dry mouth and eyes, known as sicca symptoms. The exact spectrum of neurological involvement, especially of the central nervous system, in childhood Sjögren syndrome has not been well defined. We report a girl who presented with acute febrile brainstem encephalitis. In retrospect, she had exhibited a preceding history of recurrent conjunctivitis and strong halitosis that could be considered as sicca symptoms. The histopathology results of a minor salivary biopsy, the presence of anti-SSA/Ro antibody, and keratoconjunctivitis confirmed the diagnosis of Sjögren syndrome. Commonly observed features in previously reported patients with childhood Sjögren syndrome and central nervous system complications have included fever at the time of neurologic presentation, cerebrospinal fluid pleocytosis, abnormal neuroimaging, and positivity for several specific antibodies. In children presenting with unknown acute febrile encephalopathy, Sjögren syndrome should be included in the differential diagnosis, especially when sicca symptoms are present. PMID:26006751

  18. CHILDHOOD GUILLIAN-BARRE SYNDROME IN THE IRAN’S EAST AZERBAIJAN PROVINCE: 2001-2005

    OpenAIRE

    M. Barzegar; S. Davari Farid; Dastgiri, S.; Malekian, A; V. Toopchizadeh

    2008-01-01

     ObjectiveThis study aims at determining the epidemiologic, presenting symptoms, clinical course and electrophysiologic features of childhood Guillain-Barre Syndrome (GBS) in the East Azarbaijan province over a period of five years.Materials & Methods All the patients, aged< 15 years, referred/admitted to Tabriz Children Hospital with GBS between January 2001 and December 2005 were investigated.ResultsOne hundred and twelve subjects were enrolled during this period. The average annual inciden...

  19. Down Syndrome Temperament: The Stereotype at Middle Childhood and Adolescence.

    Science.gov (United States)

    Gunn, Pat; Cuskelly, Monica

    1991-01-01

    Behavioral ratings by mothers and teachers of 94 children with Down's Syndrome (between 8 and 14 years of age) indicated general support for the amiable personality stereotype, but ratings of low persistence were associated with maternal impressions of difficulty. There was little agreement between mothers and teachers regarding individual child…

  20. Childhood allergic bronchopulmonary aspergillosis presenting as a middle lobe syndrome

    OpenAIRE

    Shah, Ashok; Gera, Kamal; Panjabi, Chandramani

    2016-01-01

    Allergic bronchopulmonary aspergillosis (ABPA) is infrequently documented in children with asthma. Although collapse is not uncommon, middle lobe syndrome (MLS) as a presentation of ABPA is rather a rarity. A 9-year-old female child with asthma presented with increase in intensity of symptoms along with a right midzone patchy consolidation on a chest radiograph. In addition, an ill-defined opacity abutting the right cardiac border with loss of cardiac silhouette was noted. A right lateral vie...

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

    Directory of Open Access Journals (Sweden)

    Omar Mousa

    2013-11-01

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

  2. The course of severe chronic fatigue syndrome in childhood.

    OpenAIRE

    Rangel, L.; Garralda, M E; Levin, M; Roberts, H.

    2000-01-01

    Little has been reported on prognostic indicators in children with chronic fatigue syndrome (CFS). We used interviews with children and parents, a mean of 45.5 months after illness onset, to follow up 25 cases of CFS referred to tertiary paediatric psychiatric clinics. At its worst, the illness had been markedly handicapping (prolonged bed-rest and school absence in two-thirds); mean time out of school was one academic year. Two-thirds, however, had recovered and resumed normal activities--me...

  3. Splenic hypofunction in the nephrotic syndrome of childhood

    Energy Technology Data Exchange (ETDEWEB)

    McVicar, M.I.; Chandra, M.; Margouleff, D.; Zanzi, I.

    1986-05-01

    The reticuloendothelial system, including the spleen, subserves important immunologic functions. Loss of splenic function results in an increased incidence of severe bacterial infections and is accompanied by thrombocytosis. Several nephrotic children were noted to have remarkably high platelet counts and predisposition to bacterial infection with encapsulated organisms. We, therefore, investigated the splenic function of nine children with primary nephrotic syndrome and measured the phagocytic function of the spleen by sequestration of Technetium-99-labelled heat-treated autologous RBC, administered intravenously. Four children had decreased splenic function. Repeat studies performed in two of these children after remission of the nephrotic syndrome gave normal results. There were six episodes of bacterial infection (3 peritonitis, 1 septic arthritis, 1 cellulitis, and 1 Escherichia coli urinary tract infection) among the four patients with decreased splenic function. There were no episodes of bacterial infection among the five nephrotic children with normal splenic function. Nephrotic patients with decreased splenic function had significantly increased platelet counts (921,000 +/- 196,000; mean +/- SEM) compared to those with normal function (435,000 +/- 46,000; P less than 0.001). Our findings suggest the possibility that some nephrotic children may have decreased splenic function in association with increased susceptibility to bacterial infections.

  4. [Guillain-Barre's syndrome in childhood (author's transl)].

    Science.gov (United States)

    Mulas, F; Martínez Bermejo, A; Pascual Castroviejo, I

    1976-01-01

    Seventeen cases of Guillain-Barré's syndrome aged between 14 month ans 7 years are studied from clinical, analytical and evolutives aspects. Neither sex nor season predominance occurs. Sixteen of the patients had a previous viral or bacterial infection. Difficulty in walking was the main symptom at the onset of illness. Arreflexia and motot paralysis were always symmetrical and ascending. Albumino-cytological dissociation in the C.S.F. was found in the whole group. An evolutive study was made of the recovery of movement, C.S.F. and tendon reflexes which occurred in this order except in two cases which showed abnormal evolution. We emphasize the extent and frequency of respiratory difficulties at the onset of illness. Some etiopathogenic aspects, the lack of specifity of the syndrome and the differences of the diagnosis with that of poliomyelitis are commented. We point out the lack of effect of the corticosteroids treatment and the positive effects of phisiotherapy after the acute stage. PMID:1267306

  5. The metabolic syndrome in survivors of childhood acute lymphoblastic leukemia in Isfahan, Iran

    Directory of Open Access Journals (Sweden)

    Nahid Reisi

    2009-04-01

    Full Text Available

    • BACKGROUND: To determine the prevalence of metabolic syndrome in survivors of childhood leukemia in Isfahan, Iran.
    • METHODS: During a 4-year period (2003 to 2007, 55 children (33 male and 22 female diagnosed with ALL at Unit of Hematology/ Oncology, Department of Pediatrics, Isfahan University of Medical Science, were enrolled in this crosssectional study. Metabolic syndrome was defined using the modified version of Adult Treatment Panel (ATP III criteria. Insulin resistance was defined based on the homeostasis model assessment index (HOMA-IR.
    • RESULTS: The mean age of participates was 10.4 years (range 6-19 years and the mean interval since completion of chemotherapy was 35 months. Twenty percent (11/55 of survivors (10 male, 1 female met criteria for diagnosis of metabolic syndrome. Obesity was observed in one forth of patients and nearly 3/4 of obese patients had metabolic syndrome. High serum insulin levels were found in 16% of participants and in 63% of obese survivors. The mean insulin levels in survivors with metabolic syndrome was three-times more than those without (28.3 mu/l vs. 9.57 mu/l, p = 0.004. Insulin resistance was detected in 72.7% of survivors with metabolic syndrome and it was  ositively correlated with serum triglycerides (0.543, p < 0.001, systolic and diastolic BP (0.348, p = 0.01 and 0.368, p = 006 respectively, insulin levels (0.914, p < 0.001 and blood sugar (0.398, p = 003.
    • CONCLUSIONS: The prevalence of metabolic syndrome in survivors of childhood leukemia in Iran is higher than developed countries. Nearly all of the obese patients had metabolic syndrome. Weight control and regular physical exercise are recommended to the survivors.
    • KEYWORDS: Acute lymphoblastic leukemia, metabolic syndrome, obesity, children.

  6. Congenital myasthenic syndromes in childhood: diagnostic and management challenges.

    Science.gov (United States)

    Kinali, M; Beeson, D; Pitt, M C; Jungbluth, H; Simonds, A K; Aloysius, A; Cockerill, H; Davis, T; Palace, J; Manzur, A Y; Jimenez-Mallebrera, C; Sewry, C; Muntoni, F; Robb, S A

    2008-09-15

    The Congenital Myasthenic Syndromes (CMS), a group of heterogeneous genetic disorders of neuromuscular transmission, are often misdiagnosed as congenital muscular dystrophy (CMD) or myopathies and present particular management problems. We present our experience of 46 children with CMS, referred to us between 1992-2007 with provisional diagnoses of congenital myopathy (22/46), CMS or limb-girdle myasthenia (9/46), central hypotonia or neurometabolic disease (5/46), myasthenia gravis (4/46), limb-girdle or congenital muscular dystrophy (4/46) and SMA (2/46). Diagnosis was often considerably delayed (up to 18y4 m), despite the early symptoms in most cases. Diagnostic clues in the neonates were feeding difficulties (29/46), hypotonia with or without limb weakness (21/46), ptosis (19/46), respiratory insufficiency (12/46), contractures (4/46) and stridor (6/46). Twenty-five children had delayed motor milestones. Fatigability developed in 43 and a variable degree of ptosis was eventually present in 40. Over the period of the study, the mainstay of EMG diagnosis evolved from repetitive nerve stimulation to stimulation single fibre EMG. The patients were studied by several different operators. 66 EMGs were performed in 40 children, 29 showed a neuromuscular junction abnormality, 7 were myopathic, 2 had possible neurogenic changes and 28 were normal or inconclusive. A repetitive CMAP was detected in only one of seven children with a COLQ mutation and neither of the two children with Slow Channel Syndrome mutations. Mutations have been identified so far in 32/46 children: 10 RAPSN, 7 COLQ, 6 CHRNE, 7 DOK7, 1 CHRNA1 and 1 CHAT. 24 of 25 muscle biopsies showed myopathic changes with fibre size variation; 14 had type-1 fibre predominance. Three cases showed small type-1 fibres resembling fibre type disproportion, and four showed core-like lesions. No specific myopathic features were associated with any of the genes. Twenty children responded to Pyridostigmine treatment alone

  7. Neurologic complications of cerebral angiography in childhood moyamoya syndrome

    International Nuclear Information System (INIS)

    Purpose. To determine the incidence of neurologic complications of cerebral angiography in children with moyamoya syndrome (MMS) as compared to children without MMS. Materials and methods. One-hundred-ninety consecutive cerebral angiograms obtained in 152 children were evaluated. Sixty of these angiograms were obtained in 40 children with MMS. Patients underwent neurologic evaluation prior to and after the procedure. For this study, a neurologic complication was defined as any new focal neurologic deficit or alteration in mental status occurring during the procedure or within the ensuing 24 hours. Results. There were 2 neurologic complications within 24 hours of angiography, one in the MMS group and one in the non-MMS group. One patient with MMS became mute following angiography. The symptom resolved within 12 hours. One patient without MMS being examined postoperatively for residual arteriovenous malformation developed intracranial hemorrhage requiring reexploration 12 hours after the angiogram. Using a two-tail Fisher's exact test, there was no significant statistical difference in the ischemic (P = 0.3) or hemorrhagic (P = 1.0) complication rates between the group of patients with MMS and the non-MMS groups. Conclusion. The risk of a neurologic complication from cerebral angiography in children with MMS is low and not statistically different from the risk in children with other cerebrovascular disorders. (orig.)

  8. Childhood allergic bronchopulmonary aspergillosis presenting as a middle lobe syndrome.

    Science.gov (United States)

    Shah, Ashok; Gera, Kamal; Panjabi, Chandramani

    2016-01-01

    Allergic bronchopulmonary aspergillosis (ABPA) is infrequently documented in children with asthma. Although collapse is not uncommon, middle lobe syndrome (MLS) as a presentation of ABPA is rather a rarity. A 9-year-old female child with asthma presented with increase in intensity of symptoms along with a right midzone patchy consolidation on a chest radiograph. In addition, an ill-defined opacity abutting the right cardiac border with loss of cardiac silhouette was noted. A right lateral view confirmed a MLS, which was further corroborated by high resolution computed tomography. Central bronchiectasis was also observed, which prompted a work-up for ABPA. The child met 7/8 major diagnostic criteria for ABPA. She was then initiated on oral prednisolone that resulted in a marked clinical improvement within a fortnight. Radiological clearance occurred at 3 months with inflation of the middle lobe. ABPA presenting with MLS in a child is yet to be reported. A high index of suspicion is required to establish the diagnosis of ABPA in a child presenting with MLS. This would obviate the invasive investigations usually done to ascertain the cause of MLS. PMID:26844222

  9. The Relationship between Metabolic Syndrome and Childhood Maternal Education Level, Job Status Findings from the Korean National Health and Nutrition Examination, 2007-2009

    OpenAIRE

    Choi, Bo-Yoon; Lee, Duk-Chul; Chun, Eun-Hye; Lee, Jee-Yon

    2014-01-01

    Background Childhood socioeconomic status (SES) is known to affect cardio-metabolic disease risk. However, the relationship between childhood SES and metabolic syndrome (MetS) remains uncertain. Therefore, we investigated the relationship between childhood SES, as measured by maternal education and occupational status and adult-onset MetS in the Korean population. Methods We examined the association between childhood SES, as measured by maternal education level and occupational status during ...

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

    Institute of Scientific and Technical Information of China (English)

    俞建华

    2014-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Hui Liu

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

  12. Gitelman syndrome manifesting in early childhood and leading to delayed puberty: a case report

    Directory of Open Access Journals (Sweden)

    Raza Farhan

    2012-10-01

    Full Text Available Abstract Introduction Gitelman syndrome is an inherited autosomal recessive renal salt-wasting disorder. It presents with variable clinical symptoms including muscle weakness and fatigue, and the diagnosis is based on metabolic alkalosis, hypokalemia, hypomagnesemia and hypocalciuria. It is usually diagnosed incidentally in early adulthood. There are rare cases of Gitelman syndrome presenting in early childhood; however, to the best of our knowledge it has not previously been associated with delayed puberty. Case presentation A 17-year-old South Asian man with recurrent episodes of generalized muscle weakness, fatigue and cramps from the age of two years was admitted for further workup. Before the age of 12 years, the episodes had been mild, but they then got progressively worse. Other symptoms include polyuria, polydipsia, nocturia, paresthesia and occasional watery diarrhea. He also had a history of short stature, poor weight gain and delayed developmental landmarks. His family history was unremarkable except for the consanguineous marriage of his parents. An examination revealed a thin and lean man with blood pressure of 95/60mmHg. His height and weight were below the third percentile and his sexual development was at Tanner Stage II. Laboratory work revealed serum sodium of 124mmol/L, potassium 2.4mmol/L, calcium 6.5mmol/L and magnesium of 1.2mg/dL. His testosterone level was low (0.85ng/mL, normal for his age 2.67 to 10.12ng/mL with normal levels of luteinizing hormone and follicle-stimulating hormone. The sex hormone findings were attributed to delayed puberty. A 24-hour urinary analysis revealed decreased excretion of calcium (25.9mg/24 hours. Based on the findings of hypokalemic metabolic alkalosis without hypertension, severe hypomagnesemia and hypocalciuria, a diagnosis of Gitelman syndrome was made. Treatment was started with oral supplementation of potassium, magnesium and calcium along with spironolactone and liberal salt intake

  13. Metabolic Syndrome in Childhood: Rare Case of Alstrom Syndrome with Blindness.

    Science.gov (United States)

    Ahmad, Afzal; D'Souza, Benedicta; Yadav, Charu; Agarwal, Ashish; Kumar, Anand; Nandini, M; D'Souza, Vivian; Poornima, A M; Kamath, Nutan

    2016-10-01

    Alstrom's syndrome (AS) is a rare autosomal recessive ciliopathic condition affecting 1:10,00,000 children. It's a single gene disorder of ALMS1 on chromosome 2 with multisystem involvement with cone-rod retinal dystrophy causing juvenile blindness, obesity, insulin resistance, type 2 Diabetes mellitus, hypogonadism and sensorineural hearing loss. Till now only 800 patients with this disorder has been identified so far. In this report, we describe the case of a 9-year old male boy from south India. He had been initially referred for polyphagia, polyuria, polydipsia, generalized weakness from 1 weeks. On examination he was demonstrated features suggestive of AS, including blindness, obesity, type 2 diabetes, altered lipid profile, hypogonadism, acanthosis nigricans, seborrheic dermatitis, right ear discharge and episodes of respiratory tract infections. So, diagnosis of AS is critical as it can easily be overlooked because of the many features associated with metabolic syndrome starting at age 7, a relatively early age. PMID:27605748

  14. Reversible posterior leukoencephalopathy syndrome in childhood: report of nine cases and review of the literature.

    Science.gov (United States)

    Gümüş, Hakan; Per, Hüseyin; Kumandaş, Sefer; Yikilmaz, Ali

    2010-04-01

    Reversible posterior leukoencephalopathy syndrome (RPLS) is recently described disorder with typical radiological findings in the posterior regions of the cerebral hemisphere and cerebellum. Its clinical symptoms include headache, decreased alertness, mental abnormalities, such as confusion, diminished spontaneity of speech, and changed behavior ranging from drowsiness to stupor, seizures, vomiting and abnormalities of visual perception like cortical blindness. RPLS is caused by various heterogeneous factors, the commonest being hypertension, followed by non-hypertensive causes such as eclampsia, renal diseases and immunosuppressive therapy. We presented nine patients with RPLS who had primary diagnoses such as acute post-streptococcal glomerulonephritis, idiopathic hypertension, the performing of intravenous immunoglobulin for infection with crescentic glomerulonephritis, erythrocyte transfusion for severe iron deficiency, L: -asparaginase treatment for acute lymphoblastic leukemia and performing of granulocyte-colony stimulating factor for ulcerative colitis due to neutropenia. Early recognition of RPLS as complication during different diseases and therapy in childhood may facilitate precise diagnosis and appropriate treatment. PMID:19809787

  15. [Markers of metabolic syndrome and peptides regulating metabolism in survivors of childhood acute lymphoblastic leukemia].

    Science.gov (United States)

    Skoczeń, Szymon; Tomasik, Przemysław; Balwierz, Walentyna; Surmiak, Marcin; Sztefko, Krystyna; Galicka-Latała, Danuta

    2011-01-01

    Along with the growing epidemic of overweight the risk of atherosclerosis, cardiovascular disease morbidity and mortality are increasing markedly. Metabolic syndrome (MS) is a condition clustering together several risk factors of those complications such as visceral obesity, glucose intolerance, arterial hypertension and dislipidemia. The risk of obesity in acute lymphoblastic leukemia (ALL) survivors is higher than in general population. We aimed to assess (1) the relationships between chosen adipokines and neuropeptides, chemotherapy, CRT, and body fatness and (2) evaluate adipokines and neuropeptides concentrations as a new markers of MS in children. We conducted cross-sectional evaluation of 82 ALL survivors (median age: 13.2 years; range: 4,8-26,2; median time from treatment: 3.2 years), including fasting laboratory testing: peptides (leptin, GLP-1, orexin, PYY, apelin), total cholesterol and its fractions, triglycerides; anthropometric measurements (weight, height), systolic and diastolic blood pressure. We estimated percentiles of body mass index and percentiles of blood pressure. Between 82 survivors overweight and diastolic hypertension was diagnosed in 31% of patients (35% in CRT group) and 15% respectively. At least one abnormality in lipids concentrations was found in 43%. Girls were more affected than boys. Statistically significant increased in leptin and apelin concentrations and decreased in soluble leptin receptor concentrations in the overweight group were observed compared to the non overweight subjects. Significant increase in orexin levels in females who had received CRT compared to those who had not received CRT was found. CRT is the main risk factor of elevated of body mass among survivors of childhood leukemia. Dyslipidemia and hypertension, along with increased adiposity indicate higher risk of MS development. Girls are more affected than boys. Leptin, orexin and apelin seem to be good markers of increased adiposity especially after CRT

  16. Brugada 综合征的药物和非药物治疗

    Institute of Scientific and Technical Information of China (English)

    松尾清隆

    2003-01-01

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

  17. Long-term Impact of Childhood Adiposity on Adult Metabolic Syndrome Is Modified by Insulin Resistance: The Bogalusa Heart Study

    OpenAIRE

    Zhang, Huijie; Zhang,Tao; Li, Shengxu; LI, YING; Hussain, Azad; Fernandez, Camilo; Harville, Emily; Bazzano, Lydia A.; He, Jiang; Chen, Wei

    2015-01-01

    Childhood adiposity and insulin resistance are well-known risk factors for adult metabolic syndrome (MetS). This study aims to examine whether the association between childhood adiposity and adult MetS is modified by insulin resistance. The cohort consisted of 1,593 black and white subjects, aged 19–50 years at follow-up, who were examined 19 years apart on average as children and adults for MetS variables. The prevalence of adult MetS was compared between the insulin-sensitive obesity and in...

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

    Directory of Open Access Journals (Sweden)

    Shwetal Goraksha

    2010-01-01

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

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

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    Hugo Alberto Abrego

    2006-05-01

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

  20. CHILDHOOD GUILLIAN-BARRE SYNDROME IN THE IRAN’S EAST AZERBAIJAN PROVINCE: 2001-2005

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    M. Barzegar

    2008-10-01

    Full Text Available Objective This study aims at determining the epidemiologic, presenting symptoms, clinical course and electrophysiologic features of childhood Guillain-Barre Syndrome(GBS in the East Azarbaijan province over a period of five years. Materials & Methods All the patients, aged< 15 years, referred/admitted to Tabriz Children Hospital with GBS between January 2001 and December 2005 were investigated.Results One hundred and twelve subjects were enrolled during this period. The average annual incidence rate was 2.21 per 100000 population of children aged<15years(CI 95%: 1.8-2.6; the highest proportion of 29% was observed in winter (P=0.10; mean age (SD of subjects was 5.1 (3.3 years, while 61.6% were ≤5years. The male/female ratio was 1.3. Antecedent events were identified in 80(71.4% patients. The most common manifestation was limb weakness; at the peak of the disease course, only 8 (7.1% patients were able to walk without assistance. Cranial nerve involvement was found in 37.5%. Fifteen percent of patients had autonomic dysfunction, and 32.2% complained of neuropathic pain. Artificial ventilation was needed in 10.7% of patients, and three patients (2.7% died due to cardiac arrest. Electrophysiological examination showed the demyelinating type of the disease in 54.5%; axonal type in 35.7% and 9.8% as unclassified or normal pattern. Short time to reach nadir (P=0.008, cranial nerve involvement (P=0.000, autonomic involvement (P=0.001, and axonal pattern on electro diagnosis (P=0.043 were found as risk factors for respiratory failure. In follow-up, at the end of one year, 95% of patients could walk without aid. ConclusionThe axonal type of GBS is a relatively common form of childhood GBS occurring in East Azerbaijan.

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

    DEFF Research Database (Denmark)

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

    2010-01-01

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

  2. IQ in Childhood and the Metabolic Syndrome in Middle Age: Extended Follow-Up of the 1946 British Birth Cohort Study

    Science.gov (United States)

    Richards, Marcus; Black, Stephanie; Mishra, Gita; Gale, Catharine R.; Deary, Ian J.; Batty, David G.

    2009-01-01

    IQ in early adulthood has been inversely associated with risk of the metabolic syndrome in midlife. We tested this association in the British 1946 birth cohort, which assessed IQ at age eight years and ascertained the metabolic syndrome at age 53 years based on modified (non-fasting blood) ATPIII criteria. Childhood IQ was inversely associated…

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

    Directory of Open Access Journals (Sweden)

    Ouali S

    2011-04-01

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

  4. 伪差性 Brugada 波3例

    Institute of Scientific and Technical Information of China (English)

    陈静; 丁颖; 龚辉; 徐泽芹

    2013-01-01

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

  5. Frontotemporal Dementia-Like Syndrome Following Recall of Childhood Sexual Abuse.

    Science.gov (United States)

    Cohen, Lisa J; Brody, David

    2015-06-01

    Numerous psychopathological syndromes have been attributed to posttraumatic stress, both at the time of the trauma and many years later. To date, however, there is little literature on pseudodementia as a delayed traumatic stress response. The authors present a case history of a 50-year-old woman who developed severe cognitive impairment following retrieval of previously forgotten memories of childhood sexual abuse. Her cognitive condition deteriorated rapidly and dramatically. Neuropsychological assessment and clinical presentation led to a diagnosis of frontotemporal dementia (vs. corticobasal degeneration). Detailed neurologic and medical evaluations could not identify any underlying physical cause. Her condition progressively worsened over 9 months, at which point memantine, an N-methyl-D-aspartate receptor antagonist, was begun. The patient regained full functioning over the next year. Although an organic cause could not be ruled out, it was likely that recovery of traumatic memories was contributory to the patient's condition, as ongoing psychotherapy had begun 1 year into the course. If additional cases with similar presentations are reported, such cases would corroborate the notion that persistent, severe, and reversible cognitive impairment constitutes a previously unrecognized and atypical posttraumatic response. PMID:25991053

  6. Childhood apraxia of speech without intellectual deficit in a patient with cri du chat syndrome.

    Science.gov (United States)

    Marignier, Stéphanie; Lesca, Gaetan; Marguin, Jessica; Bussy, Gérald; Sanlaville, Damien; des Portes, Vincent

    2012-06-01

    We report an 11-year-old girl for whom the diagnosis of cri du chat syndrome (CdCS) was made during a genetic investigation of childhood apraxia of speech. The patient presented with the classic chromosome 5 short arm deletion found in CdCS. The microdeletion, characterised using aCGH (array Comparative Genomic Hybridisation), was 12.85 Mb, overlapping the 5p15.2 and 5p15.3 critical regions. CdCS is typically associated with severe mental retardation while this patient had normal intellectual performance, confirmed by normal results from categorisation tasks. This mild phenotype was assessed using a comprehensive cognitive battery. Language evaluation showed normal receptive vocabulary scores, in contrast with obvious oro-facial dyspraxia. Disabled fine motor skills were confirmed as well as weak visuo-spatial reasoning abilities. In conclusion, fine cognitive assessment may be worthwhile for patients with CdCS since good intellectual functioning may be masked by severe speech and gestural dyspraxia, thus requiring specific teaching and rehabilitation strategies. PMID:22510527

  7. Less efficient and costly processes of frontal cortex in childhood chronic fatigue syndrome

    Directory of Open Access Journals (Sweden)

    Kei Mizuno

    2015-01-01

    Full Text Available The ability to divide one's attention deteriorates in patients with childhood chronic fatigue syndrome (CCFS. We conducted a study using a dual verbal task to assess allocation of attentional resources to two simultaneous activities (picking out vowels and reading for story comprehension and functional magnetic resonance imaging. Patients exhibited a much larger area of activation, recruiting additional frontal areas. The right middle frontal gyrus (MFG, which is included in the dorsolateral prefrontal cortex, of CCFS patients was specifically activated in both the single and dual tasks; this activation level was positively correlated with motivation scores for the tasks and accuracy of story comprehension. In addition, in patients, the dorsal anterior cingulate gyrus (dACC and left MFG were activated only in the dual task, and activation levels of the dACC and left MFG were positively associated with the motivation and fatigue scores, respectively. Patients with CCFS exhibited a wider area of activated frontal regions related to attentional resources in order to increase their poorer task performance with massive mental effort. This is likely to be less efficient and costly in terms of energy requirements. It seems to be related to the pathophysiology of patients with CCFS and to cause a vicious cycle of further increases in fatigue.

  8. Altered Microstructure Within Social-Cognitive Brain Networks During Childhood in Williams Syndrome

    Science.gov (United States)

    Haas, Brian W.; Barnea-Goraly, Naama; Sheau, Kristen E.; Yamagata, Bun; Ullas, Shruti; Reiss, Allan L.

    2014-01-01

    Williams syndrome (WS) is a neurodevelopmental condition caused by a hemizygous deletion of ∼26–28 genes on chromosome 7q11.23. WS is associated with a distinctive pattern of social cognition. Accordingly, neuroimaging studies show that WS is associated with structural alterations of key brain regions involved in social cognition during adulthood. However, very little is currently known regarding the neuroanatomical structure of social cognitive brain networks during childhood in WS. This study used diffusion tensor imaging to investigate the structural integrity of a specific set of white matter pathways (inferior fronto-occipital fasciculus [IFOF] and uncinate fasciculus [UF]) and associated brain regions [fusiform gyrus (FG), amygdala, hippocampus, medial orbitofrontal gyrus (MOG)] known to be involved in social cognition in children with WS and a typically developing (TD) control group. Children with WS exhibited higher fractional anisotropy (FA) and axial diffusivity values and lower radial diffusivity and apparent diffusion coefficient (ADC) values within the IFOF and UF, higher FA values within the FG, amygdala, and hippocampus and lower ADC values within the FG and MOG compared to controls. These findings provide evidence that the WS genetic deletion affects the development of key white matter pathways and brain regions important for social cognition. PMID:23709644

  9. Loss of B cells and their precursors is the most constant feature of GATA-2 deficiency in childhood myelodysplastic syndrome.

    Science.gov (United States)

    Nováková, Michaela; Žaliová, Markéta; Suková, Martina; Wlodarski, Marcin; Janda, Aleš; Froňková, Eva; Campr, Vít; Lejhancová, Kateřina; Zapletal, Ondřej; Pospíšilová, Dagmar; Černá, Zdeňka; Kuhn, Tomáš; Švec, Peter; Pelková, Vendula; Zemanová, Zuzana; Kerndrup, Gitte; van den Heuvel-Eibrink, Marry; van der Velden, Vincent; Niemeyer, Charlotte; Kalina, Tomáš; Trka, Jan; Starý, Jan; Hrušák, Ondřej; Mejstříková, Ester

    2016-06-01

    GATA-2 deficiency was recently described as common cause of overlapping syndromes of immunodeficiency, lymphedema, familiar myelodysplastic syndrome or acute myeloid leukemia. The aim of our study was to analyze bone marrow and peripheral blood samples of children with myelodysplastic syndrome or aplastic anemia to define prevalence of the GATA2 mutation and to assess whether mutations in GATA-2 transcription factor exhibit specific immunophenotypic features. The prevalence of a GATA2 mutation in a consecutively diagnosed cohort of children was 14% in advanced forms of myelodysplastic syndrome (refractory anemia with excess blasts, refractory anemia with excess blasts in transformation, and myelodysplasia-related acute myeloid leukemia), 17% in refractory cytopenia of childhood, and 0% in aplastic anemia. In GATA-2-deficient cases, we found the most profound B-cell lymphopenia, including its progenitors in blood and bone marrow, which correlated with significantly diminished intronRSS-Kde recombination excision circles in comparison to other myelodysplastic syndrome/aplastic anemia cases. The other typical features of GATA-2 deficiency (monocytopenia and natural killer cell lymphopenia) were less discriminative. In conclusion, we suggest screening for GATA2 mutations in pediatric myelodysplastic syndrome, preferentially in patients with impaired B-cell homeostasis in bone marrow and peripheral blood (low number of progenitors, intronRSS-Kde recombination excision circles and naïve cells). PMID:27013649

  10. Attention in Williams Syndrome and Down's Syndrome: Performance on the New Early Childhood Attention Battery

    Science.gov (United States)

    Breckenridge, Kate; Braddick, Oliver; Anker, Shirley; Woodhouse, Margaret; Atkinson, Janette

    2013-01-01

    Attentional problems are commonly reported as a feature of the behavioural profile in both Williams syndrome (WS) and Down's syndrome (DS). Recent studies have begun to investigate these impairments empirically, acknowledging the need for an approach that considers cross-syndrome comparisons and developmental changes across the different…

  11. The Clinical and Neurophysiological Features of Epileptic Syndromes Associated with Benign Focal Epileptiform Discharges of Childhood

    Directory of Open Access Journals (Sweden)

    N. A. Ermolaenko

    2014-01-01

    Full Text Available Benign focal epileptiform discharge of childhood (BFEDC is an age-dependent pattern determined in electroencephalograms (EEGs, which is associated with idiopathic benign focal epilepsy (BFE. Studies of BFE revealed symptomatic phenocopies in patients with cerebral struc- tural abnormalities in such conditions as infantile cerebral palsy and malformations. Some arguments against the «benign» nature of BFEDC are presented, since BFEDC may impair various cognitive functions and behavior (e.g., cause epileptic encephalophathies. Objective. To determine the clinical and neurophysiological features of epileptic syndromes associated with prolonged epileptiform activity during sleep in children and adolescents, as well as approaches to rational therapy. Patients and Methods. A total of 1862 children aged 2–18 admitted to the specialized Department of Psychoneurology of the Voronezh Regional Children Clinical Hospital No 1 in 2004–2007, who had epileptic seizures and non-epileptic neurological disorders, were exam- ined. The children underwent assessment of the neurological status, neuropsychological assessment, and video-EEG monitoring. The spike- wave index (SWI was calculated and magnetic resonance imaging (MRI of the brain was performed to register the epileptiform activity during sleep. Results and Discussion. It was demonstrated that when ISW of BFEDC patterns is >30%, evolution into epileptic encephalopathy was observed in 66% of patients (including epilepsy with electrical status epilepticus in sleep in 49% of patients and cognitive epileptiform disinte- gration in 17% of patients. The results prove the justification of prescribing antiepileptic drugs to patients with SWI ≥30% even if they have no epileptic seizures. Duo-therapy with valproate and ethosuximide or levetiracetam is most the effective therapy. Further prospective studies for children with BFEDC will give new insight into this area. 

  12. Thimerosal-Preserved Hepatitis B Vaccine and Hyperkinetic Syndrome of Childhood

    Directory of Open Access Journals (Sweden)

    David A. Geier

    2016-03-01

    Full Text Available (1 Background: Hyperkinetic syndrome of childhood (HKSoC is an International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9 category in which the majority of the children are also diagnosed under the Diagnostic and Statistical Manual of Mental Disorders, 4th Edition, Text Revision (DSM-IV-TR, where the umbrella term is “Attention-Deficit and Disruptive Behavior Disorders”. The diagnostic criteria for HKSoC are developmentally inappropriate inattention, hyperactivity, and impulsivity. Some studies have implicated mercury (Hg exposure as a risk factor. (2 Methods: This hypothesis testing study; using the Vaccine Safety Datalink; assessed the toxicological effects of bolus exposure to organic-Hg from Thimerosal-containing vaccines (TCVs by examining the relationship between Thimerosal-preserved hepatitis B vaccines (TM-HepB given at varying levels and at specific intervals in the first six months after birth and the risk of a child being diagnosed with HKSoC. (3 Results: Children diagnosed with HKSoC were significantly more likely to be exposed to increased organic-Hg from TM-HepB doses given within the first month (odds ratio = 1.45; 95% confidence interval (CI = 1.30–1.62; within the first two months (odds ratio = 1.43; 95% CI = 1.28–1.59; and within the first six months (odds ratio = 4.51; 95% CI = 3.04–6.71 than controls. (4 Conclusion: The results indicate that increasing organic-Hg exposure from TCVs heightens the risk of a HKSoC diagnosis.

  13. Superior oblique tendon (Brown’s syndrome as the presenting finding in childhood onset HLA-B27-related enthesitis and juvenile idiopathic oligoarticular arthritis

    Directory of Open Access Journals (Sweden)

    C. Pham

    2014-11-01

    Full Text Available We report two patients who presented with Brown’s syndrome. The first is a 7-year-old boy who at the time of his diagnosis was also found to have enthesitis and HLA-B27 positivity. The second patient was diagnosed with bilateral Brown’s syndrome at 13 months of age. At age 7 she developed a persistent oligoarticular arthritis and unilateral anterior iritis consistent with the oligoarticular Juvenile Idiopatic Arthritis (JIA phenotype. These cases highlight ophthalmologic findings and diagnostic considerations with respect to Brown’s syndrome and associated childhood onset rheumatologic disease.

  14. Dysaesthesias and dysautonomia: a self-limited syndrome of painful dysaesthesias and autonomic dysfunction in childhood.

    OpenAIRE

    Nass, R.; Chutorian, A

    1982-01-01

    Three children with an acute self-limited syndrome characterised by painful dysaethesias, hypertension, and autonomic dysfunction, in the absence of motor and reflex abnormalities, are presented. They appear to have had a variant of acute polyneuritis involving sensory and autonomic systems. The pathophysiology of hypertension in the Guillain-Barré syndrome and of acute pandysautonomia is discussed. Excessive adrenergic function is considered as a cause of the pain component of the syndrome.

  15. Alström syndrome – an uncommon cause of early childhood retinal dystrophy

    OpenAIRE

    Sheck, Leo; Al-Taie, Rasha; Sharp, Dianne; Vincent, Andrea

    2011-01-01

    Alström syndrome (AS) is a ciliopathy and an uncommon cause of syndromic retinal dystrophy. This case reports findings in a 5-year-old boy with severe early onset retinal dystrophy, and how the recognition of extraocular features with genetic analysis led to the correct diagnosis of AS after 4 years of investigation.

  16. Examination of Work Environment Factors Relating to Burnout Syndrome of Early Childhood Educators in Greece

    Science.gov (United States)

    Rentzou, Konstantina

    2012-01-01

    Early childhood education is a profession which requires the professional staff to spend considerable time in intense involvement with other people. The pressure from the demands this profession has can create a sense of physical and emotional exhaustion that often leads to burnout. Thus, previous research has linked perceptions of the work…

  17. Sudden infant death syndrome, childhood thrombosis, and presence of genetic risk factors for thrombosis

    DEFF Research Database (Denmark)

    Larsen, TB; Nørgaard-Pedersen, B; Lundemose, JB;

    2000-01-01

    Sudden infant death syndrome or "cot death" has until the late eighties been a significant cause of death in children between the ages of 1 month and 1 year. Approximately two per 1000 children born alive dies of sudden infant death syndrome each year in Western Europe, North America, and Australia......,251,027 inhabitants in Denmark, the incidence of venous thromboembolism was 0.9 per 1000 per year in the background population, and less than one-thousandth of these were children. Consequently it is not likely that venous thrombosis is a major cause of sudden infant death syndrome. On the other hand, this does not....... The vulnerability of the infant brain stem to ischemia has been suggested to be a conceivable cause of sudden infant death syndrome. This is compatible with a hypothesis that genetic risk factors for cerebral thrombosis could cause microinfarction in the brain stem during the first month of life...

  18. Sudden infant death syndrome, childhood thrombosis, and presence of genetic risk factors for thrombosis

    DEFF Research Database (Denmark)

    Larsen, T B; Nørgaard-Pedersen, B; Banner, Jytte;

    2000-01-01

    for thrombosis in the child. This prompted us to investigate these genetic markers of thromboembolic disease in 121 cases of sudden infant death syndrome and in relevant controls, in the expectation of a more frequent occurrence of these markers if thrombosis is an etiological factor in sudden infant......Sudden infant death syndrome or "cot death" has until the late eighties been a significant cause of death in children between the ages of 1 month and 1 year. Approximately two per 1000 children born alive dies of sudden infant death syndrome each year in Western Europe, North America, and Australia....... The vulnerability of the infant brain stem to ischemia has been suggested to be a conceivable cause of sudden infant death syndrome. This is compatible with a hypothesis that genetic risk factors for cerebral thrombosis could cause microinfarction in the brain stem during the first month of life...

  19. Epidemiology of childhood Guillan-Barre syndrome in the north west of Iran

    OpenAIRE

    Karegarmaher Mohammad H; Dastgiri Saeed; Barzegar Mohammad; Varshochiani Ali

    2007-01-01

    Abstract Background and aims This study was carried out to investigate the incidence, annual time trend and some epidemiological and clinical features of Guillain-Barre syndrome in children in the north west of Iran. Materials and methods In this population-based cross sectional research, epidemiological and clinical features of 143 cases with Guillain-Barre syndrome between 2001 and 2006 were studied. The setting of the study was Tabriz Children Medical Centre, the major University-Hospital ...

  20. The Clinical and Neurophysiological Features of Epileptic Syndromes Associated with Benign Focal Epileptiform Discharges of Childhood

    OpenAIRE

    N. A. Ermolaenko; I A Buchneva; Zakharova, E. I.

    2014-01-01

    Benign focal epileptiform discharge of childhood (BFEDC) is an age-dependent pattern determined in electroencephalograms (EEGs), which is associated with idiopathic benign focal epilepsy (BFE). Studies of BFE revealed symptomatic phenocopies in patients with cerebral struc- tural abnormalities in such conditions as infantile cerebral palsy and malformations. Some arguments against the «benign» nature of BFEDC are presented, since BFEDC may impair various cognitive functions and behavior (e.g....

  1. Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration.

    OpenAIRE

    Hirvasniemi, A; Lang, H; Lehesjoki, A E; Leisti, J

    1994-01-01

    A new autosomal recessively inherited disease of the central nervous system involving childhood epilepsy and mental deterioration is described. Twenty three patients (11 males and 12 females) belonging to 11 families from northern Finland have been identified. A common ancestor has been found for nine families. The mean age of onset of epilepsy was 6.7 years (range 5-10 years) and the epilepsy was characterised by generalised tonic-clonic seizures increasing in frequency up to puberty. One th...

  2. Therapy-Related Myelodysplastic Syndrome Following Treatment for Childhood Acute Lymphoblastic Leukemia: Outcome of Patients Registered in the EWOG-MDS 98/06 Studies

    DEFF Research Database (Denmark)

    Strahm, Birgitte; Amann, Roland; De Moerloose, Barbara;

    Objective: Therapy-related myelodysplastic syndrome (tMDS) following treatment of childhood acute lymphoblastic leukemia (ALL) is one of the most frequently observed secondary malignancies in survivors of childhood cancer. Allogeneic stem cell transplantation (SCT) is the only curative treatment....... This analysis was performed to asses the outcome of patients with tMDS following treatment for childhood ALL reported to the EWOG-MDS study group. Patients and Transplant Procedure: Forty-three patients (19 male/24 female) were diagnosed with tMDS between August 1989 and August 2009. The median age at diagnosis......, cyclophosphamide and melphalan (Bu/Cy/Mel) (23), an alternative busulfan based regimen (6), a radiation based regimen (5) or others (3). Results: After a median follow up of 4.1 (0.5 – 9.4) years, 14 patients are alive in first complete remission (CR). Seventeen patients developed relapse after a median time...

  3. Epidemiology of childhood Guillan-Barre syndrome in the north west of Iran

    Directory of Open Access Journals (Sweden)

    Karegarmaher Mohammad H

    2007-08-01

    Full Text Available Abstract Background and aims This study was carried out to investigate the incidence, annual time trend and some epidemiological and clinical features of Guillain-Barre syndrome in children in the north west of Iran. Materials and methods In this population-based cross sectional research, epidemiological and clinical features of 143 cases with Guillain-Barre syndrome between 2001 and 2006 were studied. The setting of the study was Tabriz Children Medical Centre, the major University-Hospital located in Tabriz city of the East Azarbaijan province covering whole region. Data collected included age, gender, chronological information, preceding events, functional grade of motor deficit. Results The mean age (standard deviation of subjects was 5.4 (3.6 years. The male/female ratio was 1.3. The average annual incidence rate was 2.27 per 100 000 population of 15 years children (CI95%: 1.9–2.6. The majority of cases occurred in March, July and November and the highest proportion of the syndrome was observed in winter (29 percent, P > 0.10. Conclusion The results indicated that an unexpected high incidence of Guillain-Barre syndrome has occurred in 2003 in the region. We concluded that a monitoring and surveillance system for Guillain-Barre syndrome is essential to set up in this region.

  4. Combination Chemotherapy in Treating Young Patients With Down Syndrome and Acute Myeloid Leukemia or Myelodysplastic Syndromes

    Science.gov (United States)

    2016-03-16

    Childhood Acute Basophilic Leukemia; Childhood Acute Eosinophilic Leukemia; Childhood Acute Erythroleukemia (M6); Childhood Acute Megakaryocytic Leukemia (M7); Childhood Acute Minimally Differentiated Myeloid Leukemia (M0); Childhood Acute Monoblastic Leukemia (M5a); Childhood Acute Monocytic Leukemia (M5b); Childhood Acute Myeloblastic Leukemia With Maturation (M2); Childhood Acute Myeloblastic Leukemia Without Maturation (M1); Childhood Acute Myelomonocytic Leukemia (M4); Childhood Myelodysplastic Syndromes; de Novo Myelodysplastic Syndromes; Secondary Acute Myeloid Leukemia; Secondary Myelodysplastic Syndromes; Untreated Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies

  5. SPASTIC FORM OF CEREBRAL PALSY, EPILEPSY WITH BENIGN EPILEPTIFORM DISCHARGE OF CHILDHOOD ON ELECTROENCEPHALOGRAM, AND IATROGENIC STEVENS–JOHNSON SYNDROME (CASE DESCRIPTION

    Directory of Open Access Journals (Sweden)

    A. S. Kotov

    2016-01-01

    Full Text Available The article describes the phenomenon of dual pathology – a combination of structural changes in the brain and benign epileptiform discharge of childhood on electroencephalogram. The uniqueness lies in the observation that the child, since birth suffering from spastic form of cerebral palsy and severe epilepsy, demonstrated the development of Stevens–Johnson syndrome due to intolerance of one of the antiepileptic drugs. Therapeutic approaches to overcome a whole range of violations are discussed in the article.

  6. Is there an increased risk of metabolic syndrome among childhood acute lymphoblastic leukemia survivors? A developing country experience.

    Science.gov (United States)

    Mohapatra, Sonali; Bansal, Deepak; Bhalla, A K; Verma Attri, Savita; Sachdeva, Naresh; Trehan, Amita; Marwaha, R K

    2016-03-01

    Data on metabolic syndrome (MS) in survivors of childhood acute lymphoblastic leukemia (ALL) from developing countries are lacking. The purpose of this single-center, uncontrolled, observational study was to assess the frequency of MS in our survivors. The survivors of ALL ≤15 years at diagnosis, who had completed therapy ≥2 years earlier, were enrolled. Anthropometric measurements (weight, height, waist circumference), biochemistry (glucose, insulin, triglycerides, high-density lipoprotein [HDL], thyroid function tests, C-reactive protein [CRP], magnesium), measurement of blood pressure, and Tanner staging were performed. MS was defined by International Diabetes Federation (IDF) and the National Cholesterol Education Program Third Adult Treatment Panel guidelines (NCEP ATP III) criteria, modified by Cook et al. (Arch Pediatr Adolesc Med. 2003;157:821-827) and Ford et al. (Diabetes Care. 2005;28:878-881). The median age of 76 survivors was 11.9 years (interquartile range [IQR]: 9.6-13.5). Twenty-four (32%) survivors were obese or overweight. The prevalence of insulin resistance (17%), hypertension (7%), hypertriglyceridemia (20%), and low HDL (37%) was comparable to the prevalence in children/adolescents in historical population-based studies from India. The prevalence of MS ranged from 1.3% to 5.2%, as per different defining criteria. Cranial radiotherapy, age at diagnosis, sex, or socioeconomic status were not risk factors for MS. The prevalence of MS in survivors of childhood ALL, at a median duration of 3 years from completion of chemotherapy, was comparable to the reference population. The prevalence of being obese or overweight was, however, greater than historical controls. PMID:26984439

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

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    Murata Kazuya

    2011-11-01

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

  8. Síndrome de Brugada: identificación de un nuevo caso

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    Amarilys Valero Hernández

    2016-03-01

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

  9. Ontogeny of polycystic ovary syndrome and insulin resistance in utero and early childhood

    Science.gov (United States)

    Polycystic ovary syndrome (PCOS) is a prevalent hyperandrogenic infertility and cardiometabolic disorder that increases a woman's lifetime risk of type 2 diabetes mellitus. It is heritable and intensely familial. Progress toward a cure has been delayed by absence of an etiology. Evidence is mounting...

  10. Family Health and Characteristics in Chronic Fatigue Syndrome, Juvenile Rheumatoid Arthritis, and Emotional Disorders of Childhood.

    Science.gov (United States)

    Rangel, Luiza; Garralda, M. Elena; Jeffs, Jim; Rose, Gillian

    2005-01-01

    Objective: To compare family health and characteristics in children with chronic fatigue syndrome (CFS), in juvenile rheumatoid arthritis (JRA), and emotional disorders. Method: Parents of 28 children and adolescents aged 11 to 18 years with CFS, 30 with JRA, and 27 with emotional disorders (i.e., anxiety and/or depressive disorders) were…

  11. New recurrent deletions in the PPARgamma and TP53 genes are associated with childhood myelodysplastic syndrome

    DEFF Research Database (Denmark)

    Silveira, Cássia G T; Oliveira, Fábio M; Valera, Elvis T; Ikoma, Maura R V; Borgonovo, Tamara; Cavalli, Iglenir J; Tone, Luiz G; Rogatto, Silvia R

    2009-01-01

    Myelodysplastic syndrome (MDS) is a rare hematological malignancy in children. It was performed FISH analysis in 19 pediatric MDS patients to investigate deletions involving the PPARgamma and TP53 genes. Significant losses in the PPARgamma gene and deletions in the tumor suppressor gene TP53 were...

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

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    Jonathan R. Skinner

    2014-01-01

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

  13. Detection of metabolic syndrome features among childhood cancer survivors: A target to prevent disease

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    Adriana Aparecida Siviero-Miachon

    2008-09-01

    Full Text Available Adriana Aparecida Siviero-Miachon1, Angela Maria Spinola-Castro1, Gil Guerra-Junior21Division of Pediatric Endocrinology, Department of Pediatrics, Federal University of Sao Paulo – UNIFESP/EPM, Brazil; 2Division of Pediatric Endocrinology, Department of Pediatrics, State University of Campinas – FCM/UNICAMP, BrazilAbstract: Along with the growing epidemic of obesity, the risk of atherosclerosis, cardiovascular disease morbidity, and mortality are increasing markedly. Several risk factors for cardiovascular disease, such as visceral obesity, glucose intolerance, arterial hypertension, and dyslipidemia commonly cluster together as a condition currently known as metabolic syndrome. Thus far, insulin resistance, and endothelial dysfunction are the primary events of the metabolic syndrome. Several groups have recommended clinical criteria for the diagnosis of metabolic syndrome in adults. Nonetheless, in what concerns children and adolescents, there are no unified definitions, and modified adult criteria have been suggested by many authors, despite major problems. Some pediatric disease states are at risk for premature cardiovascular disease, with clinical coronary events occurring very early in adult life. Survivors of specific pediatric cancer groups, particularly acute lymphocytic leukemia, central nervous system tumors, sarcomas, lymphomas, testicular cancer, and following bone marrow transplantation, may develop metabolic syndrome traits due to: hormonal deficiencies (growth hormone deficiency, thyroid dysfunction, and gonadal failure, drug or radiotherapy damage, endothelial impairment, physical inactivity, adipose tissue dysfunction, and/or drug-induced magnesium deficiency. In conclusion, some primary and secondary prevention remarks are proposed in order to reduce premature cardiovascular disease risk in this particular group of patients.Keywords: metabolic syndrome X, cardiovascular diseases, insulin resistance, obesity, growth hormone

  14. An overlap syndrome involving autoimmune hepatitis and systemic lupus erythematosus in childhood

    Institute of Scientific and Technical Information of China (English)

    Yusuf Usta; Figen Gurakan; Zuhal Akcoren; Seza Ozen

    2007-01-01

    We report a 12 years old female patient with an overlap syndrome involving autoimmune hepatitis (ALM) and systemic lupus erythematosus (SLE). The patient presented with jaundice, hepatosplenomegaly, malAlse, polyarthralgia, arthritis and butterfly rash on the face. Laboratory tests revealed severe liver dysfunction, Coombs positive hemolytic anemia and a positive ANA/ anti-dsDNA test. Renal biopsy showed class IIA kidney disease, while liver biopsy showed chronic hepatitis with severe inflammatory activity. The patient satisfied the international criteria for both SLE and ALM. Clinical symptoms and laboratory findings of SLE improved with high dose treatment with corticosteroids and azathioprine, however, remission of the liver disease could not be achieved. Repeat biopsy of the liver after three years of therapy revealed ongoing chronic hepatitis with high level of inflammatory activity. The present case indicates that children with liver dysfunction and SLE should be investigated for ALM. There is much diagnostic and therapeutic dilemma in patients with ALH-SLE overlap syndrome.

  15. Childhood Onset of Scheie Syndrome, the Attenuated Form of Mucopolysaccharidosis I

    OpenAIRE

    Thomas, Janet A.; Beck, Michael; Clarke, Joe T. R.; Cox, Gerald Frank

    2010-01-01

    Scheie syndrome is the most attenuated and rarest form of mucopolysaccharidosis type I (MPS I), an inherited lysosomal storage disorder. Only small patient series have previously been reported. Using natural history data from the uniquely large population of 78 Scheie patients enrolled in the MPS I Registry, we characterized the onset and prevalence of clinical manifestations and explored reasons for delayed diagnosis of the disease. Median patient age was 17.5 years; 46% of the patients were...

  16. Mouse model implicates GNB3 duplication in a childhood obesity syndrome

    OpenAIRE

    Goldlust, Ian S.; Hermetz, Karen E.; Catalano, Lisa M.; Barfield, Richard T.; Cozad, Rebecca; Wynn, Grace; Ozdemir, Alev Cagla; Conneely, Karen N.; Mulle, Jennifer G.; Dharamrup, Shikha; Hegde, Madhuri R.; Kim, Katherine H.; Angle, Brad; Colley, Alison; Webb, Amy E.

    2013-01-01

    We describe a genomic disorder that causes obesity, intellectual disability, and seizures. Children with this syndrome carry an unbalanced chromosome translocation that results in the duplication of over 100 genes, including G protein β3 (GNB3). Although GNB3 polymorphisms have been associated with obesity, hypertension, and diabetes, the mechanism of GNB3 pathogenesis is unknown. We created a transgenic mouse model that carries a duplication of GNB3, weighs significantly more than wild-type ...

  17. Long-term treatment of childhood refractory and steroid dependent nephrotic syndrome with Cyclosporin A

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    Madani A

    2002-07-01

    Full Text Available Background: Cyclosporin A (CsA is now commonly used in the management of children with steroid-dependent and steroid resistant nephoitic syndrome. It has been reported to be effective in maintaining remission in 70-100 percent of patients with SDNS but somewhat SRNS 0-100 percent. The aim of this study was to evaluate the efficacy of long-term (CsA in children with refractory nephrotic syndrome (RNS and steroid dependent nephrotic syndrome (SDNS. Materials and Methods: The long-term effect of (CsA in 91 Iranian children aged 3 months to 11 years (54 with RNS and 37 with SDNS was assessed between 1984 and 1999. Eighty of 91 children received renal biopsy prior to introduction of (CsA, and the other 11 patients had not consent for kidney biopsy. If the patients did not show remission aftre receiving 3-6 months of (CsA, the medication was discontinued. Results: All patient were treated with (CsA in combination with low dose alternate day prednisolone. In children with RNS and SDNS, therapy with (CsA induced, remission in 25 of 54 (46.2 percent and 27 of 37 (73 percent respectively (P<0.02. Of the 32 patients with minimal change disease (MCD, 23 (72 percent responded to therapy, compared with 4 of 18 (22 percent with focal segmental glomerulosclerosis (FSGS (P<0.005. Twenty-four (48 percent of 50 who entered complete remission, had relapse 1-12 months after cessation of (CsA. The duration between the onset of nephrotic syndrome (NS and administration of (CsA and sexuality of patients had no effect in result of treatment. Side effects occurred in 25 patients (27.4 percent. No patients exhibited raised transaminases, 8 (8.7 percent of the children developed hirsutism, 7 (7.6 percent hypertension, 7 (7.6 percent gingival hyperplasia, (2.2 percent neurological toxicity and 1 (1 percent increase in serum creatinine. Conclusion: Our findings suggest that (CsA can be used to induce a complete remission in a significant proportion of patients with RNS and

  18. Acute Childhood Cardiorenal Syndrome and Impact of Cardiovascular Morbidity on Survival

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    Wasiu A. Olowu

    2011-01-01

    Full Text Available Cardiorenal syndrome (CRS clinical types, prevalence, aetiology, and acute cardiovascular morbidity impact on the outcome of acute kidney function perturbation were determined. Forty-seven of 101 (46.53% patients with perturbed kidney function had CRS. Types 3 and 5 CRS were found in 10 and 37 patients, respectively. Type 3 CRS was due to acute glomerulonephritis (AGN; =7, captopril (=1, frusemide (=1, and hypovolaemia (=1. Malaria-associated haemoglobinuria (=20, septicaemia (=11, lupus nephritis (=3, tumour lysis syndrome (=2, and acute lymphoblastic leukaemia (=1 caused Type 5 CRS. The cumulative mortality in hypertensive CRS was similar to nonhypertensive CRS (51.4% versus 40.9%; =.119. Mortality in CRS and non-CRS was similar (45.7% versus 24.5%; =.053. Type 5 survived better than type 3 CRS (66.7% versus 12.5%; =.001. Risk factors for mortality were Type 3 CRS (=.001, AGN-associated CRS (=.023, dialysis requiring CRS (=.008, and heart failure due to causes other than anaemia (=.003. All-cause-mortality was 34.2%. Preventive measures aimed at the preventable CRS aetiologies might be critical to reducing its prevalence.

  19. Etanercept in Treating Young Patients With Idiopathic Pneumonia Syndrome After Undergoing a Donor Stem Cell Transplant

    Science.gov (United States)

    2016-02-23

    Accelerated Phase Chronic Myelogenous Leukemia; Blastic Phase Chronic Myelogenous Leukemia; Childhood Acute Lymphoblastic Leukemia in Remission; Childhood Acute Myeloid Leukemia in Remission; Childhood Chronic Myelogenous Leukemia; Childhood Myelodysplastic Syndromes; Chronic Phase Chronic Myelogenous Leukemia; de Novo Myelodysplastic Syndromes; Disseminated Neuroblastoma; Juvenile Myelomonocytic Leukemia; Previously Treated Childhood Rhabdomyosarcoma; Previously Treated Myelodysplastic Syndromes; Pulmonary Complications; Recurrent Childhood Acute Lymphoblastic Leukemia; Recurrent Childhood Acute Myeloid Leukemia; Recurrent Childhood Large Cell Lymphoma; Recurrent Childhood Lymphoblastic Lymphoma; Recurrent Childhood Rhabdomyosarcoma; Recurrent Childhood Small Noncleaved Cell Lymphoma; Recurrent Neuroblastoma; Recurrent Wilms Tumor and Other Childhood Kidney Tumors; Recurrent/Refractory Childhood Hodgkin Lymphoma; Relapsing Chronic Myelogenous Leukemia; Secondary Acute Myeloid Leukemia; Secondary Myelodysplastic Syndromes

  20. Visualization of coronary arteries in patients after childhood Kawasaki syndrome: value of multidetector CT and MR imaging in comparison to conventional coronary catheterization

    Energy Technology Data Exchange (ETDEWEB)

    Arnold, Raoul [University Hospital, Department of Paediatric Cardiology, Heidelberg (Germany); University Hospital, Department of Paediatric Cardiology, Freiburg (Germany); Ley, Sebastian [Department of Radiology, German Cancer Research Centre, Heidelberg (Germany); University Hospital, Department of Paediatric Radiology, Heidelberg (Germany); Ley-Zaporozhan, Julia; Kauczor, Hans-Ulrich [Department of Radiology, German Cancer Research Centre, Heidelberg (Germany); Eichhorn, Joachim; Ulmer, Herbert [University Hospital, Department of Paediatric Cardiology, Heidelberg (Germany); Schenk, Jens-Peter [University Hospital, Department of Paediatric Radiology, Heidelberg (Germany)

    2007-10-15

    After childhood Kawasaki syndrome (KS) the coronary arteries undergo a lifelong dynamic pathological change, and follow-up coronary artery imaging is essential. At present, conventional coronary catheterization (CCC) and angiography is still regarded as the gold standard. Less-invasive methods such as multidetector CT angiography (MDCT-A) and MRI have been used sporadically. To compare the diagnostic quality of MDCT-A and MRI with that of CCC for coronary imaging in a group of patients with coronary artery pathology after childhood KS. A total of 16 patients (aged 5-27 years) underwent CCC and 16-row MDCT-A and 14 patients MRI (1.5 T). There was 100% agreement between MDCT-A and CCC in the detection of coronary aneurysms and stenoses. MDCT-A was superior for the visualization of calcified lesions. MRI and CCC showed 93% agreement for the detection of aneurysms. Visualization of coronary artery stenoses was difficult using MRI - one stenosis was missed. MDCT-A has excellent correlation with CCC regarding all changes affecting the coronary arteries in the follow-up of childhood KS. In comparison to MDCT-A and CCC, MRI is less precise in the detection of stenotic lesions. Due to its high image quality and ease of performance MDCT-A should be the primary diagnostic modality in patients following childhood KS. (orig.)

  1. Visualization of coronary arteries in patients after childhood Kawasaki syndrome: value of multidetector CT and MR imaging in comparison to conventional coronary catheterization

    International Nuclear Information System (INIS)

    After childhood Kawasaki syndrome (KS) the coronary arteries undergo a lifelong dynamic pathological change, and follow-up coronary artery imaging is essential. At present, conventional coronary catheterization (CCC) and angiography is still regarded as the gold standard. Less-invasive methods such as multidetector CT angiography (MDCT-A) and MRI have been used sporadically. To compare the diagnostic quality of MDCT-A and MRI with that of CCC for coronary imaging in a group of patients with coronary artery pathology after childhood KS. A total of 16 patients (aged 5-27 years) underwent CCC and 16-row MDCT-A and 14 patients MRI (1.5 T). There was 100% agreement between MDCT-A and CCC in the detection of coronary aneurysms and stenoses. MDCT-A was superior for the visualization of calcified lesions. MRI and CCC showed 93% agreement for the detection of aneurysms. Visualization of coronary artery stenoses was difficult using MRI - one stenosis was missed. MDCT-A has excellent correlation with CCC regarding all changes affecting the coronary arteries in the follow-up of childhood KS. In comparison to MDCT-A and CCC, MRI is less precise in the detection of stenotic lesions. Due to its high image quality and ease of performance MDCT-A should be the primary diagnostic modality in patients following childhood KS. (orig.)

  2. [Electrodiagnostic criteria for childhood Guillain-Barre syndrome. Eight years' experience].

    Science.gov (United States)

    Lopez-Esteban, Pilar; Gallego, Isabel; Gil-Ferrer, Victoria

    2013-03-01

    INTRODUCTION. The Guillan-Barre syndrome is the most frequent case of acute flacid paralysis in children. The diagnostic criteria differ according to the demyelinating or axonal variant and the prevalence by geographical area. The electro-myographic study permits identifying variants, evaluating the prognosis and predicting the evolution, is in addition an objective tool for the monitoring. AIM. To describe the electromyographic characteristics of the Guillain-Barre syndrome evaluated in hospital and its classification by physiopathological pattern. PATIENTS AND METHODS. All the cases diagnosed between 2005 and 2012 are included. Studies of motor and sensitive nervous conduction and F waves in 14 girls and 11 boys between 1 and 13 years of age. RESULTS. 19 cases of acute inflammatory demyelinating polyneuropathy (AIDP) and five of acute motor axonal neuropathy (AMAN) were diagnosed. The electromyogram was performed between 1 and 30 days after the beginning of symptoms. In AIDP cases, multifocal demyelination, four of them with the preserved sural and 13 with alteration and absence of F wave were objectified. In the cases of AMAN, four had low amplitude potential and in one of them they were not evoked. CONCLUSIONS. The demyelinating form of the illness is the most frequent although the high number of AMAN cases stands out, probably related to the population object of study. The evolution was favorable in three cases of motor axonal neuropathy and in 15 accute demyelinating polyneuropathy. In four cases the symptoms became chronic; three of them with persistent demyelination a similar occurrence in other studies with children. PMID:23440755

  3. Expanding the phenotypic profile of Kleefstra syndrome: A female with low-average intelligence and childhood apraxia of speech.

    Science.gov (United States)

    Samango-Sprouse, Carole; Lawson, Patrick; Sprouse, Courtney; Stapleton, Emily; Sadeghin, Teresa; Gropman, Andrea

    2016-05-01

    Kleefstra syndrome (KS) is a rare neurogenetic disorder most commonly caused by deletion in the 9q34.3 chromosomal region and is associated with intellectual disabilities, severe speech delay, and motor planning deficits. To our knowledge, this is the first patient (PQ, a 6-year-old female) with a 9q34.3 deletion who has near normal intelligence, and developmental dyspraxia with childhood apraxia of speech (CAS). At 6, the Wechsler Preschool and Primary Intelligence testing (WPPSI-III) revealed a Verbal IQ of 81 and Performance IQ of 79. The Beery Buktenica Test of Visual Motor Integration, 5th Edition (VMI) indicated severe visual motor deficits: VMI = 51; Visual Perception = 48; Motor Coordination Test-R (ROWPVT-R), she had standard scores of 96 and 99 in contrast to an Expressive One Word Picture Vocabulary-R (EOWPVT-R) standard scores of 73 and 82, revealing a discrepancy in vocabulary domains on both evaluations. Preschool Language Scale-4 (PLS-4) on PQ's first evaluation reveals a significant difference between auditory comprehension and expressive communication with standard scores of 78 and 57, respectively, further supporting the presence of CAS. This patient's near normal intelligence expands the phenotypic profile as well as the prognosis associated with KS. The identification of CAS in this patient provides a novel explanation for the previously reported speech delay and expressive language disorder. Further research is warranted on the impact of CAS on intelligence and behavioral outcome in KS. Therapeutic and prognostic implications are discussed. PMID:26833960

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

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    Gustavo Padrón Peña

    2012-07-01

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

  5. The genetics of childhood obesity and interaction with dietary macronutrients

    OpenAIRE

    Garver, William S.; Newman, Sara B.; Gonzales-Pacheco, Diana M.; Castillo, Joseph J.; Jelinek, David; Heidenreich, Randall A.; Orlando, Robert A.

    2013-01-01

    The genes contributing to childhood obesity are categorized into three different types based on distinct genetic and phenotypic characteristics. These types of childhood obesity are represented by rare monogenic forms of syndromic or non-syndromic childhood obesity, and common polygenic childhood obesity. In some cases, genetic susceptibility to these forms of childhood obesity may result from different variations of the same gene. Although the prevalence for rare monogenic forms of childhood...

  6. Clinical, electrophysiological subtypes and antiganglioside antibodies in childhood Guillain-Barré syndrome

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    Meena A Kannan

    2011-01-01

    Full Text Available Background: Guillain-Barré syndrome (GBS has been the most common cause of flaccid paralysis in children after the decline in the incidence of poliomyelitis. There are not any published data from the Indian subcontinent documenting electrophysiological patterns and antiganglioside antibodies in pediatric GBS. Materials and Methods: The study population included children with GBS referred for electrodiagnostic evaluation and also children with GBS admitted to our institute between August 2006 and July 2007. Nerve conduction studies were done to determine GBS subtypes and serum antiganglioside antibodies were measured using enzyme-linked immunosorbent assay (ELISA. Clinical and electrophysiological features were correlated with antiganglioside antibody results. Results: Of the 43 (male to female ratio = 2.1:1 children studied, 97.6% had motor weakness, 76.7% had cranial nerve palsies, 13.9% had autonomic disturbances and respiratory paralysis was found in 9.3% children. Antecedent illness was recorded in 69.8% children. The GBS subtype distribution was as follows: acute inflammatory demyelinating polyradiculoneuropathy (AIDP in 21 (48.8%, acute motor axonal neuropathy (AMAN in 19 (44.2%, and 3 (6.9% children were unclassified. The severity of illness was similar in both AMAN and AIDP subtypes and the recovery in both the subtypes was complete without any significant difference in the duration of recovery. Preceding diarrheal illness was more common in AMAN subtype as compared to AIDP subtype (57.9% vs. 4.7%, P = 0.007. Sensory symptoms were more common in AIDP subtype than in AMAN subtype (66.6% vs. 21%, P = 0.03}. The commonest ganglioside antibody was IgM GM2. Anti GM3 antibodies were exclusively seen in children with AMAN and IgG GD1b was significantly associated with (36.7 vs. 4%; P = 0.007 AMAN subtype. IgG GT1b was identified in 50% of patients with AIDP as compared to 22.7% in patients with AMAN. Conclusion: In this study, AMAN subtype

  7. Kindler syndrome

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    Kaviarasan P

    2005-01-01

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

  8. Síndrome mielodisplásica na infância Myelodysplastic syndromes in childhood

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    Luiz F. Lopes

    2006-09-01

    ,7%. Quanto à evolução clínica dos pacientes encontramos: óbito em 54,8% dos casos, remissão espontânea em 5,4% e 16,1% encontrava-se em tratamento conservador. Infecções em pacientes com SMD e naqueles que sofreram transformação leucêmica foram as causas mais freqüentes de óbito (58,8%. Propomos também neste artigo uma abordagem de diagnóstico em genética e biologia molecular voltada para os casos infantis assim como uma revisão de literatura sobre transplante de medula óssea para os casos pediátricos, além de outros aspectos que diferem da abordagem feita para pacientes adultos.The Brazilian Cooperative Study Group on Pediatric Myelodysplastic Syndromes (GCB-SMD-PED started in January 1997 with the goal of studying under 18-year-old patients with MDS or suspected MDS from all over the country. Some primary or secondary disorders are incorrectly called MDS. Because of this the GCB-SMD-PED is a referral group in the country to review and also to give diagnostic support (morphology, genetics, etc.. Some groups still use the FAB classification but two new classifications for pediatric cases have been published: one from the Sick Children's Hospital, University of Toronto, Canada the "CCC Classification" (category, cytology and cytogenetic, and the WHO pediatric classification by Hasle et al. Our proposal here is to present data from the 173 pediatric cases which were referred to the GCB-SMD-PED from 15 states (41 centers. From 1983 to 1997, 51 pediatric cases were registered as retrospective cases and from January 1998 to February 2003, 122 prospective cases were registered. From these 173 cases, 93 where confirmed as MDS. In 36.5% of them there was a transformation into acute leukemia with 82.3% as AML and 17.7% as ALL. The follow up showed that 54.8% died, 5.4% had spontaneous remission and 16.1% were in treatment with no chemotherapy (just transfusion or conservative approach. Infections were the primary cause of death (58.8%. Additionally, in this

  9. What Are the Types and Phases of Rett Syndrome?

    Science.gov (United States)

    ... and Publications What are the types & phases of Rett syndrome? Skip sharing on social media links Share this: ... Rett Syndrome (Hanefeld Variant) 6 Late-Childhood Rett Syndrome Forme Fruste Rett Syndrome Preserved-Speech Variant of Rett Syndrome (Zappella ...

  10. Childhood Nephrotic Syndrome

    Science.gov (United States)

    ... Research Training & Career Development Grant programs for students, postdocs, and faculty Research at NIDDK Labs, faculty, and ... diabetes, digestive and liver diseases, kidney diseases, weight control and nutrition, urologic diseases, endocrine and metabolic diseases, ...

  11. Childhood Nephrotic Syndrome

    Science.gov (United States)

    ... specially trained technician performs the procedure in a health care provider’s office, an outpatient center, or a hospital. A radiologist—a doctor who specializes in medical imaging—interprets ...

  12. Methylation of BDNF in women with bulimic eating syndromes: associations with childhood abuse and borderline personality disorder.

    Science.gov (United States)

    Thaler, Lea; Gauvin, Lise; Joober, Ridha; Groleau, Patricia; de Guzman, Rosherrie; Ambalavanan, Amirthagowri; Israel, Mimi; Wilson, Samantha; Steiger, Howard

    2014-10-01

    DNA methylation allows for the environmental regulation of gene expression and is believed to link environmental stressors to such mental-illness phenotypes as eating disorders. Numerous studies have shown an association between bulimia nervosa (BN) and variations in brain-derived neurotrophic factor (BDNF). BDNF has also been linked to borderline personality disorder (BPD) and to such traits as reward dependence. We examined the extent to which BDNF methylation corresponded to bulimic or normal-eater status, and also to the presence of comorbid borderline personality disorder (BPD) and childhood abuse. Our sample consisted of 64 women with BN and 32 normal-eater (NE) control women. Participants were assessed for eating-disorder symptoms, comorbid psychopathology, and childhood trauma, and then they were required to provide blood samples for methylation analyses. We observed a significant site×group (BN vs. NE) interaction indicating that women with BN showed increases in methylation at specific regions of the BDNF promoter. Furthermore, examining effects of childhood abuse and BPD, we observed significant site×group interactions such that groups composed of individuals with childhood abuse or BPD had particularly high levels of methylation at selected CpG sites. Our findings suggest that BN, especially when co-occurring with childhood abuse or BPD, is associated with a propensity towards elevated methylation at specific BDNF promoter region sites. These findings imply that hypermethylation of the BDNF gene may be related to eating disorder status, developmental stress exposure, and comorbid psychopathology. PMID:24801751

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

    DEFF Research Database (Denmark)

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

    2012-01-01

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

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

    Institute of Scientific and Technical Information of China (English)

    鲁端; 王劲

    2005-01-01

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

  15. Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome

    DEFF Research Database (Denmark)

    Boyle, Martine Isabel; Jespersgaard, Cathrine; Nazaryan, Lusine; Ravn, Kirstine; Brøndum-Nielsen, Karen; Bisgaard, Anne-Marie; Tümer, Zeynep

    2015-01-01

    Deletions within 11q12.3-11q13.1 are very rare and to date only two cases have been described in the literature. In this study we describe a 23-year-old male patient with intellectual disability, behavioral problems, dysmorphic features, dysphagia, gastroesophageal reflux and skeletal abnormalities....... Cornelia de Lange syndrome (CdLS, OMIM #122470; #300590; #610759; #300882; #614701) was suggested as a differential diagnosis in childhood although he lacked some of the features typical for this disorder. He does not have a mutation in any of the five known CdLS genes (NIPBL, SMC1A, SMC3, HDAC8, RAD21...... spectrum disorder; and CDCA5, which is part of the cohesin pathway, as are all the five known CdLS genes. It is thereforepossible that deletion of CDCA5 may account for some of the CdLS like features of the present case....

  16. Use of the Childhood Autism Rating Scale (CARS) for Children with High Functioning Autism or Asperger Syndrome

    Science.gov (United States)

    Mayes, Susan Dickerson; Calhoun, Susan L.; Murray, Michael J.; Morrow, Jill D.; Yurich, Kirsten K. L.; Cothren, Shiyoko; Purichia, Heather; Mahr, Fauzia; Bouder, James N.; Petersen, Christopher

    2012-01-01

    The authors of the "Childhood Autism Rating Scale" (CARS) state in the manual that the best cutoff score for distinguishing low functioning autism (LFA) from intellectual disability is 30 for children and 28 for adolescents and adults. This study determined that a cutoff score of 25.5 was most accurate in differentiating between high functioning…

  17. A Case of Childhood Vitrectomy Performed for Dense Vitreous Hemorrhage Secondary to Leukemia Therapy and Tumor Lysis Syndrome

    OpenAIRE

    Kudo, Takashi; Suzuki, Yukihiko; Metoki, Tomomi; Nakazawa, Mitsuru

    2015-01-01

    Purpose To report a case of vitrectomy performed in a child with dense massive vitreous hemorrhage due to secondary acute myelogenous leukemia (AML) and tumor lysis syndrome. Case A 4-year-old boy with clear-cell renal cell carcinoma was successfully treated with chemotherapy in 2011. However, in May 2012, he developed secondary AML. Although he was treated with combined chemotherapy and radiation, tumor lysis syndrome occurred with renal and heart failure complications. After an ultrasound e...

  18. An Extra X or Y Chromosome: Contrasting the Cognitive and Motor Phenotypes in Childhood in Boys with 47,XYY Syndrome or 47,XXY Klinefelter Syndrome

    Science.gov (United States)

    Ross, Judith L.; Zeger, Martha P. D.; Kushner, Harvey; Zinn, Andrew R.; Roeltgen, David P.

    2009-01-01

    Objective: The goal of this study was to contrast the cognitive phenotypes in boys with 47,XYY (XYY) karyotype and boys with 47,XXY karyotype [Klinefelter syndrome, (KS)], who share an extra copy of the X-Y pseudoautosomal region but differ in their dosage of strictly sex-linked genes. Methods: Neuropsychological evaluation of general cognitive…

  19. Fine-Motor Skill Deficits in Childhood Predict Adulthood Tic Severity and Global Psychosocial Functioning in Tourette's Syndrome

    Science.gov (United States)

    Bloch, Michael H.; Sukhodolsky, Denis G.; Leckman, James F.; Schultz, Robert T.

    2006-01-01

    Background: Most children with Tourette's syndrome (TS) experience a significant decline in tic symptoms during adolescence. Currently no clinical measures have been identified that can predict whose tic symptoms will persist into adulthood. Patients with TS have deficits on neuropsychological tests involving fine-motor coordination and…

  20. Use of high-dose prednisolone to overcome rifampicin-induced corticosteroid non-responsiveness in childhood nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    H Barman

    2016-01-01

    Full Text Available Inducing remission in nephrotic children on anti-tubercular therapy is difficult due to the increased metabolism of prednisolone induced by rifampicin. We report a child with nephrotic syndrome treated successfully with an increased dose of steroids without discontinuing anti-tubercular therapy.

  1. Childhood obesity.

    Science.gov (United States)

    Han, Joan C; Lawlor, Debbie A; Kimm, Sue Y S

    2010-05-15

    Worldwide prevalence of childhood obesity has increased greatly during the past three decades. The increasing occurrence in children of disorders such as type 2 diabetes is believed to be a consequence of this obesity epidemic. Much progress has been made in understanding of the genetics and physiology of appetite control and from these advances, elucidation of the causes of some rare obesity syndromes. However, these rare disorders have so far taught us few lessons about prevention or reversal of obesity in most children. Calorie intake and activity recommendations need reassessment and improved quantification at a population level because of sedentary lifestyles of children nowadays. For individual treatment, currently recommended calorie prescriptions might be too conservative in view of evolving insight into the so-called energy gap. Although quality of research into both prevention and treatment has improved, high-quality multicentre trials with long-term follow-up are needed. Meanwhile, prevention and treatment approaches to increase energy expenditure and decrease intake should continue. Recent data suggest that the spiralling increase in childhood obesity prevalence might be abating; increased efforts should be made on all fronts to continue this potentially exciting trend. PMID:20451244

  2. The effect of hypocalcemia in early childhood on autism-related social and communication skills in patients with 22q11 deletion syndrome.

    Science.gov (United States)

    Muldoon, Meghan; Ousley, Opal Y; Kobrynski, Lisa J; Patel, Sheena; Oster, Matthew E; Fernandez-Carriba, Samuel; Cubells, Joseph F; Coleman, Karlene; Pearce, Bradley D

    2015-09-01

    22q11 deletion syndrome (22qDS), also known as DiGeorge syndrome, is a copy number variant disorder that has a diverse clinical presentation including hypocalcaemia, learning disabilities, and psychiatric disorders. Many patients with 22q11DS present with signs that overlap with autism spectrum disorder (ASD) yet the possible physiological mechanisms that link 22q11DS with ASD are unknown. We hypothesized that early childhood hypocalcemia influences the neurobehavioral phenotype of 22q11DS. Drawing on a longitudinal cohort of 22q11DS patients, we abstracted albumin-adjusted serum calcium levels from 151 participants ranging in age from newborn to 19.5 years (mean 2.5 years). We then examined a subset of 20 infants and toddlers from this group for the association between the lowest calcium level on record and scores on the Communication and Symbolic Behavior Scales-Developmental Profile Infant-Toddler Checklist (CSBS-DP ITC). The mean (SD) age at calcium testing was 6.2 (8.5) months, whereas the mean (SD) age at the CSBS-DP ITC assessment was 14.7 (3.8) months. Lower calcium was associated with significantly greater impairment in the CSBS-DP ITC Social (p < 0.05), Speech (p < 0.01), and Symbolic domains (p < 0.05), in regression models adjusted for sex, age at blood draw, and age at the psychological assessment. Nevertheless, these findings are limited by the small sample size of children with combined data on calcium and CSBS-DP ITC, and hence will require replication in a larger cohort with longitudinal assessments. Considering the role of calcium regulation in neurodevelopment and neuroplasticity, low calcium during early brain development could be a risk factor for adverse neurobehavioral outcomes. PMID:25267002

  3. Epstein-Barr virus (EBV) infects T lymphocytes in childhood EBV-associated hemophagocytic syndrome in Taiwan.

    OpenAIRE

    Su, I J; Chen, R. L.; Lin, D.T.; Lin, K S; Chen, C C

    1994-01-01

    We have reported the prevalence of a fulminant hemophagocytic syndrome (HS) in previously healthy young children in Taiwan, most of which probably represent a lethal form of primary or active Epstein-Barr virus (EBV) infection. To further confirm their EBV association, in situ EBV hybridization (ISH) was performed on tissue biopsies from 15 pediatric HS patients (median age, 3 years and 4 months) using digoxigenin-labeled RNA probes EBER1. Double labeling immunostaining and ISH was then perfo...

  4. Neuro-behavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood

    Energy Technology Data Exchange (ETDEWEB)

    Philippe, A.; Malan, V.; De Blois, M.C.; Colleaux, L.; Munnich, A. [Hop Necker Enfants Malad, Assistance Publ Hop Paris, Natl Inst Hlth and Med Res, Paris (France); Philippe, A.; De Blois, M.C.; Colleaux, L.; Munnich, A. [HopNecker Enfants Malad, Assistance Publ Hop Paris, Dept Genet, Paris (France); Boddaert, N. [Natl Inst Hlth and Med Res, Mixed Unit Res 0205, Orsay (France); Vaivre-Douret, L.; Robel, L.; Golse, B. [Hop Necker Enfants Malad, Assistance Publ Hop Paris, Dept Psychiat, Paris (France); Vaivre-Douret, L. [Univ Paris 10, Mixed Unit Res S0669, Univ Paris 05, Univ Paris 11, Paris 10 (France); Vaivre-Douret, L. [Assistance Publ Hop Paris, Dept Obstet et Gynaecol, Paris (France); Danon-Boileau, L. [Natl Ctr Sci Res, Mixed Unit Res 7114, Paris (France); Heron, D. [Hop La Pitie Salpetriere, Assistance Publ HopParis, Dept Genet, Paris (France)

    2008-07-01

    The 22q13.3 deletion syndrome (Online Mendelian Inheritance in Man No. 606232) is a neuro-developmental disorder that includes hypotonia, severely impaired development of speech and language, autistic-like behavior, and minor dysmorphic features. Although the number of reported cases is increasing, the 22q13.3 deletion remains under-diagnosed because of failure in recognizing the clinical phenotype and detecting the 22qter deletion by routine chromosome analyses. Our goal is to contribute to the description of the neuro-behavioral phenotype and brain abnormalities of this micro-deletional syndrome. We assessed neuro-motor, sensory, language, communication, and social development and performed cerebral MRI and study of regional cerebral blood flow measured by positron emission tomography in 8 children carrying the 22q13.3 deletion. Despite variability in expression and severity, the children shared a common developmental profile characterized by hypotonia, sleep disorders, and poor response to their environment in early infancy; expressive language deficit contrasting with emergence of social reciprocity from ages similar to 3 to 5 years; sensory processing dysfunction; and neuro-motor disorders. Brain MRI findings were normal or showed a thin or morphologically atypical corpus callosum. Positron emission tomography study detected a localized dysfunction of the left temporal polar lobe and amygdala hypoperfusion. The developmental course of the 22q13.3 deletion syndrome belongs to pervasive developmental disorders but is distinct from autism. An improved description of the natural history of this syndrome should help in recognizing this largely under-diagnosed condition. (authors)

  5. Cholecystitis in a child with acquired immunodeficiency syndrome: ultrasonographic findings in a case of uncommon presentation during childhood

    International Nuclear Information System (INIS)

    We present the case of a boy with acquired immunodeficiency syndrome (AIDS) in whom ultrasound revealed the presence of a calculous cholecystitis. Abdominal ultrasound was essential in the initial diagnosis and the assessment of the response to treatment. This entity has rarely been reported in the pediatric radiology literature. In our patient, the cholecystitis may have been caused by infection, and the involvement of regional lymphatic obstruction in the pathogenesis is considered. (Author) 14 refs

  6. Neuro-behavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood

    International Nuclear Information System (INIS)

    The 22q13.3 deletion syndrome (Online Mendelian Inheritance in Man No. 606232) is a neuro-developmental disorder that includes hypotonia, severely impaired development of speech and language, autistic-like behavior, and minor dysmorphic features. Although the number of reported cases is increasing, the 22q13.3 deletion remains under-diagnosed because of failure in recognizing the clinical phenotype and detecting the 22qter deletion by routine chromosome analyses. Our goal is to contribute to the description of the neuro-behavioral phenotype and brain abnormalities of this micro-deletional syndrome. We assessed neuro-motor, sensory, language, communication, and social development and performed cerebral MRI and study of regional cerebral blood flow measured by positron emission tomography in 8 children carrying the 22q13.3 deletion. Despite variability in expression and severity, the children shared a common developmental profile characterized by hypotonia, sleep disorders, and poor response to their environment in early infancy; expressive language deficit contrasting with emergence of social reciprocity from ages similar to 3 to 5 years; sensory processing dysfunction; and neuro-motor disorders. Brain MRI findings were normal or showed a thin or morphologically atypical corpus callosum. Positron emission tomography study detected a localized dysfunction of the left temporal polar lobe and amygdala hypoperfusion. The developmental course of the 22q13.3 deletion syndrome belongs to pervasive developmental disorders but is distinct from autism. An improved description of the natural history of this syndrome should help in recognizing this largely under-diagnosed condition. (authors)

  7. 儿童布-力口综合征三例%Childhood Budd-Chiari syndrome in 3 cases

    Institute of Scientific and Technical Information of China (English)

    傅宏娜; 刘风林

    2008-01-01

    @@ 布-加综合征(Budd-Chiari syndrome,BCS)是一种可以危及生命,临床少见的疾病.在远东或亚洲地区(日本、中国和东南亚地区)发病率较高,发病年龄多集中在20~40岁[1].儿童BCS的报道在国内外少见,而2岁以下的BCS更是罕见.

  8. De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain.

    Science.gov (United States)

    Ohba, Chihiro; Nabatame, Shin; Iijima, Yoshitaka; Nishiyama, Kiyomi; Tsurusaki, Yoshinori; Nakashima, Mitsuko; Miyake, Noriko; Tanaka, Fumiaki; Ozono, Keiichi; Saitsu, Hirotomo; Matsumoto, Naomichi

    2014-05-01

    Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by MECP2 mutations. We identified a de novo WDR45 mutation, which caused a subtype of neurodegeneration with brain iron accumulation, in a patient showing clinically typical RTT. The mutation (c.830+1G>A) led to aberrant splicing in lymphoblastoid cells. Sequential brain magnetic resonance imaging demonstrated that iron deposition in the globus pallidus and the substantia nigra was observed as early as at 11 years of age. Because the patient showed four of the main RTT diagnostic criteria, WDR45 should be investigated in patients with RTT without MECP2 mutations. PMID:24621584

  9. [Non-autistic pervasive developmental disorders: Rett syndrome, disintegrative disorder and pervasive developmental disorder not otherwise specified

    NARCIS (Netherlands)

    Mercadante, M.T.; Gaag, R.J. van der; Schwartzman, J.S.

    2006-01-01

    The category "Pervasive Developmental Disorders" includes autistic disorder, Asperger's syndrome, Rett's syndrome, childhood disintegrative disorder, and a residual category, named pervasive developmental disorder not otherwise specified. In this review, Rett's syndrome and childhood disintegrative

  10. Kindler syndrome

    OpenAIRE

    Kaviarasan P; Prasad P; Shradda; Viswanathan P

    2005-01-01

    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 poikiloderm...

  11. 儿童Jeavons综合征4例报告%Four cases report of Jeavons syndrome in childhood

    Institute of Scientific and Technical Information of China (English)

    徐哲峰; 刘占利; 黄先玫; 蒋春明; 陈丽琼

    2014-01-01

    目的:探讨儿童Jeavons综合征的临床、脑电图特征及药物治疗效果。方法回顾性分析4例儿童Jeavons综合征患儿的临床、脑电图特征及治疗效果等临床资料。结果4例患儿中女性3例、男性1例,起病年龄1~6岁。临床表现为反复特征性眼睑肌阵挛,伴或不伴失神发作。视频脑电图(VEEG)监测发作期脑电图,2例为全导对称同步3~6 Hz棘慢波或多棘慢波阵发,以闭眼诱发明显;2例为全导3.0~3.5 Hzδ节律发放。采用丙戊酸治疗2例、左乙拉西坦1例、丙戊酸联合左乙拉西坦1例。结果发作控制1例,发作减轻2例,发作仍频繁1例。结论 Jeavons综合征是一种特发性全面性癫综合征,发作主要为眼睑肌阵挛伴或不伴失神。VEEG对明确诊断有重要价值,丙戊酸钠或左乙拉西坦对控制发作有效。%Objective To explore the clinical manifestations, electroencephalographic characteristics and therapeutic effect of drugs in children with Jeavons syndrome. Methods The clinical and electroencephalographic characteristics and thera-peutic effect of drugs were analyzed in 4 children with Jeavons syndrome. Results Among the four children there were 3 female and 1 male. The age at the onset of the disease was from 1 to 6 years. The typical clinical manifestations of this disease were brief, fast and repeated eyelid myoclonia (EM) with or without absence seizure. The typical electroencephalography (EEG) in two patients showed 3-6 Hz generalized spike and waves and polyspikes burst, and the eye closure and intermittent photic stimu-lation helped to induce discharges and clinical events. The typictal EEG in the other two patients showed 3.0-3.5 Hz generalizedδslow wave rhythm burst. The drugs of choice for treatment was sodium valproate monotherapy in two cases, levetiracetam in one case, sodium valproate combined with levetiracetam in one case. During the follow-up, seizures were controlled in one case

  12. Usher Syndrome

    Science.gov (United States)

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

  13. Vitamin D receptor gene TaqI and Apal polymorphisms and steroid responsiveness in childhood idiopathic nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Al-Eisa AA

    2016-08-01

    Full Text Available Amal A Al-Eisa, Mohammad Z Haider Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait Background: Vitamin D activity is controlled by vitamin D receptors (VDRs, which are affected by different genetic polymorphisms, including TaqI and Apal restriction fragment length polymorphisms (RFLPs, which have been reported to be associated with several diseases. The aim of this study was to determine the frequency and the association of VDR gene polymorphisms with idiopathic nephrotic syndrome (INS and steroid responsiveness in Kuwaiti children. Subjects and methods: Genotypes of the VDR TaqI gene polymorphism and the Apal gene polymorphism were analyzed using polymerase chain reaction-RFLP in 78 INS patients and 56 matched controls. Results: A total of 78 INS (62 steroid sensitive [SS] and 16 steroid resistant [SR] patients with a mean age of 6.5±3.1 years were studied. Male:female ratio was 2:1. The TT genotype of VDR–TaqI polymorphism was detected in 41% of the INS patients compared to 42% of the controls (P=0.816. The heterozygous TC genotype was detected in 33% of INS patients compared to 46% of the controls (P=0.462. The CC genotype was detected in 25.6% of INS patients and 21% of the controls (P=0.719. The C-allele frequency, in its homozygous and heterozygous forms, was 71% in INS patients compared to 63% in the controls (P=0.342. Similarly, no significant difference was detected in terms of VDR–Apal polymorphism in INS patients compared to the controls for all the three genotypes (P=0.76, P=0.207, and P=0.364, respectively, for GG, GT, and TT genotypes. The T-allele frequency, in its homozygous and heterozygous forms, was 89% in INS patients compared to 93% in the controls (P=0.076. No significant difference was found in any of the allele frequencies between SS and SR subgroups when compared with each other or when compared to the controls. Conclusion: Our data do not support the use of VDR–TaqI or

  14. Cranial nerve palsies in childhood

    OpenAIRE

    Lyons, C J; Godoy, F; ALQahtani, E

    2015-01-01

    We review ocular motor cranial nerve palsies in childhood and highlight many of the features that differentiate these from their occurrence in adulthood. The clinical characteristics of cranial nerve palsies in childhood are affected by the child's impressive ability to repair and regenerate after injury. Thus, aberrant regeneration is very common after congenital III palsy; Duane syndrome, the result of early repair after congenital VI palsy, is invariably associated with retraction of the g...

  15. 小儿急性偏瘫综合征%Study on acute hemiplegia syndrome in childhood

    Institute of Scientific and Technical Information of China (English)

    王纪文

    2004-01-01

    小儿急性偏瘫综合征(acute hemiplegia syndrome in childhood.AHS)早在1897年即由Sigmund Freud详细描述,直到1960年以后才有较多报道。小儿急性偏瘫是由多种原因引起的以急性一侧肢体瘫痪为主要表现的临床综合征,目前该诊断名词倾向于只用于未找到特异原闪的急性偏瘫,其他则可用更为明确的诊断如:脑动脉血栓形成等代替,本文仍延用以往文献称谓,泛指上述情况。美国有学者调查15岁以下儿童中,脑卒中引起的急性偏瘫为2.48/万。国内尚缺乏流行病学方面的调查。其发病机制主要是脑血流灌注不足,导致局部脑组织缺血、坏死累及锥体束的功能。

  16. Childhood Leukemia

    Science.gov (United States)

    ... cells. It is the most common type of childhood cancer. Your blood cells form in your bone ... in the bones or joints Risk factors for childhood leukemia include having a brother or sister with ...

  17. Childhood Stress

    Science.gov (United States)

    ... 5 Things to Know About Zika & Pregnancy Childhood Stress KidsHealth > For Parents > Childhood Stress Print A A ... and feel stress to some degree. Sources of Stress Stress is a function of the demands placed ...

  18. Childhood Obesity

    OpenAIRE

    Wilkinson, Justine; Howard, Simon

    2014-01-01

    Childhood obesity has important consequences for health and wellbeing both during childhood and also in later adult life. The rising prevalence of childhood obesity poses a major public health challenge in both developed and developing countries by increasing the burden of chronic non-communicable diseases. Despite the urgent need for effective preventative strategies, there remains disagreement over its definition due to a lack of evidence on the optimal cut-offs linking childhood BMI to dis...

  19. Childhood Cancer

    Science.gov (United States)

    ... Story" 5 Things to Know About Zika & Pregnancy Childhood Cancer KidsHealth > For Parents > Childhood Cancer Print A A A Text Size What's ... in children, but can happen. The most common childhood cancers are leukemia , lymphoma , and brain cancer . As ...

  20. Vitamin D receptor gene TaqI and Apal polymorphisms and steroid responsiveness in childhood idiopathic nephrotic syndrome

    Science.gov (United States)

    Al-Eisa, Amal A; Haider, Mohammad Z

    2016-01-01

    Background Vitamin D activity is controlled by vitamin D receptors (VDRs), which are affected by different genetic polymorphisms, including TaqI and Apal restriction fragment length polymorphisms (RFLPs), which have been reported to be associated with several diseases. The aim of this study was to determine the frequency and the association of VDR gene polymorphisms with idiopathic nephrotic syndrome (INS) and steroid responsiveness in Kuwaiti children. Subjects and methods Genotypes of the VDR TaqI gene polymorphism and the Apal gene polymorphism were analyzed using polymerase chain reaction-RFLP in 78 INS patients and 56 matched controls. Results A total of 78 INS (62 steroid sensitive [SS] and 16 steroid resistant [SR]) patients with a mean age of 6.5±3.1 years were studied. Male:female ratio was 2:1. The TT genotype of VDR–TaqI polymorphism was detected in 41% of the INS patients compared to 42% of the controls (P=0.816). The heterozygous TC genotype was detected in 33% of INS patients compared to 46% of the controls (P=0.462). The CC genotype was detected in 25.6% of INS patients and 21% of the controls (P=0.719). The C-allele frequency, in its homozygous and heterozygous forms, was 71% in INS patients compared to 63% in the controls (P=0.342). Similarly, no significant difference was detected in terms of VDR–Apal polymorphism in INS patients compared to the controls for all the three genotypes (P=0.76, P=0.207, and P=0.364, respectively, for GG, GT, and TT genotypes). The T-allele frequency, in its homozygous and heterozygous forms, was 89% in INS patients compared to 93% in the controls (P=0.076). No significant difference was found in any of the allele frequencies between SS and SR subgroups when compared with each other or when compared to the controls. Conclusion Our data do not support the use of VDR–TaqI or –Apal gene polymorphisms as genetic markers of INS nor do they predict steroid responsiveness in children with the disease.

  1. Combination Chemotherapy With or Without Bone Marrow Transplantation in Treating Children With Acute Myelogenous Leukemia or Myelodysplastic Syndrome

    Science.gov (United States)

    2013-01-15

    Childhood Acute Erythroleukemia (M6); Childhood Acute Megakaryocytic Leukemia (M7); Childhood Acute Monoblastic Leukemia (M5a); Childhood Acute Monocytic Leukemia (M5b); Childhood Acute Myeloblastic Leukemia With Maturation (M2); Childhood Acute Myeloblastic Leukemia Without Maturation (M1); Childhood Acute Myelomonocytic Leukemia (M4); Childhood Myelodysplastic Syndromes; Chronic Myelomonocytic Leukemia; de Novo Myelodysplastic Syndromes; Refractory Anemia; Refractory Anemia With Excess Blasts; Refractory Anemia With Excess Blasts in Transformation; Refractory Anemia With Ringed Sideroblasts; Secondary Myelodysplastic Syndromes; Untreated Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies

  2. Adult onset Leigh syndrome

    Directory of Open Access Journals (Sweden)

    Pandit Lekha

    2007-01-01

    Full Text Available Leigh syndrome is a rare progressive mitochondrial disorder of oxidative metabolism. Though it has been reported in infancy and childhood, it is rarely described in adults. The authors describe a patient who had clinical and magnetic resonance imaging features diagnostic of Leigh syndrome, with supportive biochemical and muscle histochemistry evidence.

  3. Joubert syndrome

    International Nuclear Information System (INIS)

    Joubert syndrome is a rare malformation of the posterior fossa, mainly affecting the cerebellar vermis, which generally appears as a dysplastic lesion. Other structures of the cervico medullary junction may be involved, with accompanying brainstem hypoplasia according to neuroimaging studies. The diagnosis is usually reached during, childhood, based on a constellation of changes in the child's neurological development that are supported by the results of imaging studied. Respiratory problems are the most common signs in newborns,leading to the suspicion of the presence of this syndrome. (Author) 11 refs

  4. Childhood Obesity

    OpenAIRE

    Aydın, Ahmet; Koca, Fahrettin; Fıçıcıoğlu, Can; Çam, Halit; Mıkla, Şerare

    1995-01-01

    Management of childhood obesity and its early and late complications are among the most difficult problems confronted by pediatricians and practitioners The purpose of this review is to provide information for the evaluation and treatment of childhood obesity Key nbsp;words: nbsp;Child Obesity Etiology Management Complications

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

    Institute of Scientific and Technical Information of China (English)

    王军; 杨钧国

    2003-01-01

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

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

    Institute of Scientific and Technical Information of China (English)

    徐小文

    2003-01-01

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

  7. Higher occurrence of childhood cancer in families with germline mutations in BRCA2, MMR and CDKN2A genes

    DEFF Research Database (Denmark)

    Magnusson, S.; Borg, A.; Kristoffersson, U.; Nilbert, M.; Wiebe, T.; Olsson, H.; Magnusson, Susanne; Borg, Ake; Kristoffersson, Ulf; Nilbert, Mef; Wiebe, Thomas; Olsson, Håkan

    2008-01-01

    The contribution of hereditary factors for development of childhood tumors is limited to some few known syndromes associated with predominance of tumors in childhood. Occurrence of childhood tumors in hereditary cancer syndromes such as BRCA1/2 associated breast and ovarian cancer, DNA-mismatch r...

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

    Directory of Open Access Journals (Sweden)

    Charles Antzelevitch

    2013-06-01

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

  9. Clinical Features of Turner Syndrome

    Science.gov (United States)

    ... growth is attenuated in utero, and statural growth lags during childhood and adolescence, resulting in adult heights ... easily treated with thyroid hormone supplements. Cognitive Function/Educational Issues In general, individuals with Turner syndrome have ...

  10. Genetics Home Reference: Menkes syndrome

    Science.gov (United States)

    ... In rare cases, symptoms begin later in childhood. Occipital horn syndrome (sometimes called X-linked cutis laxa ) ... bone at the base of the skull (the occipital bone), coarse hair, and loose skin and joints. ...

  11. J Wave Syndromes: A Decade of Progress

    Institute of Scientific and Technical Information of China (English)

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

    2015-01-01

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

  12. J Wave Syndromes: A Decade of Progress

    Directory of Open Access Journals (Sweden)

    Guo-Liang Li

    2015-01-01

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

  13. Childhood Leukemia

    Science.gov (United States)

    Leukemia is cancer of the white blood cells. It is the most common type of childhood cancer. ... blood cells help your body fight infection. In leukemia, the bone marrow produces abnormal white blood cells. ...

  14. Childhood leukaemia

    International Nuclear Information System (INIS)

    The debate on whether there is any link between leukaemia clusters and nuclear installations has been raging since the early eighties. A Government Inquiry found no link between childhood leukaemia and residence near Seascale, an area near British Nuclear Fuels Sellafield plant. Research in the 1980s linked childhood leukaemia to fathers' occupations prior to conception in the Seascale plant but also to workers in the iron, steel, farming and chemical industries. This article reviews research findings to date. (UK)

  15. Is Socioeconomic Position Related to the Prevalence of Metabolic Syndrome?

    OpenAIRE

    Ramsay, Sheena E.; Whincup, Peter H; Morris, Richard; Lennon, Lucy; Wannamethee, S. G.

    2008-01-01

    OBJECTIVE—To examine whether adult social class and childhood social class are related to metabolic syndrome in later life, independent of adult behavioral factors. RESEARCH DESIGN AND METHODS—This was a population-based cross-sectional study comprising 2,968 men aged 60–79 years. RESULTS—Adult social class and childhood social class were both inversely related to metabolic syndrome. Mutual adjustment attenuated the relation of metabolic syndrome with childhood social class; that with adult s...

  16. Superior oblique tendon (Brown’s) syndrome as the presenting finding in childhood onset HLA-B27-related enthesitis and juvenile idiopathic oligoarticular arthritis

    OpenAIRE

    Pham, C; V. Utz; A. Marcotty; A. Zeft; P. Rychwalski

    2014-01-01

    We report two patients who presented with Brown’s syndrome. The first is a 7-year-old boy who at the time of his diagnosis was also found to have enthesitis and HLA-B27 positivity. The second patient was diagnosed with bilateral Brown’s syndrome at 13 months of age. At age 7 she developed a persistent oligoarticular arthritis and unilateral anterior iritis consistent with the oligoarticular Juvenile Idiopatic Arthritis (JIA) phenotype. These cases highlight ophthalmologic findings and diagnos...

  17. Childhood obesity

    DEFF Research Database (Denmark)

    Heitmann, Berit L; Koplan, Jeffrey; Lissner, Lauren

    2009-01-01

    Despite progress toward assuring the health of today's young population, the 21(st) century began with an epidemic of childhood obesity. There is general agreement that the situation must be addressed by means of primary prevention, but relatively little is known about how to intervene effectively....... The evidence behind the assumption that childhood obesity can be prevented was discussed critically in this roundtable symposium. Overall, there was general agreement that action is needed and that the worldwide epidemic itself is sufficient evidence for action. As the poet, writer, and scholar...

  18. Children with Usher syndrome

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2012-01-01

    , 1 with mild mental retardation, and 2 with conduct disorder). Another 3 children had had a mental or behavioral disorder previously in their childhood. Conclusion: Even though vision impairment first manifests in late childhood, some children with Usher syndrome seem to develop mental and behavioral...... disorders among 26 children, 3-17 years of age, with Usher syndrome. Results: Six of the 26 children were diagnosed with a mental or behavioral disorder (1 with schizophrenia and mild mental retardation, 1 with atypical autism and severe mental retardation, 1 with atypical autism and mild mental retardation......Background: Mental and behavioral disorders among adults with Usher syndrome have been discussed and reported in some case studies but no research has been reported on children with Usher syndrome. Methods: This article investigates the prevalence and characteristics of mental and behavioral...

  19. Antisocial Behavioral Syndromes in Cocaine and Cannabis Dependence

    OpenAIRE

    Mariani, John J.; Horey, Jonathan; Bisaga, Adam; Aharonovich, Efrat; Raby, Wilfrid; Cheng, Wendy Y.; Nunes, Edward; Levin, Frances R.

    2008-01-01

    Antisocial personality disorder (ASPD) is highly associated with substance use disorders (SUD). In addition to the full ASPD syndrome, which requires both childhood conduct disorder and the adult features, other antisocial behavioral syndromes, including conduct disorder (CD) alone without the adult syndrome, and the adult antisocial behavioral syndrome without childhood CD (AABS) are also frequently diagnosed in patients with SUD. The aim of this study was to compare the rates of these vario...

  20. Childhood Obesity

    Science.gov (United States)

    Yuca, Sevil Ari, Ed.

    2012-01-01

    This book aims to provide readers with a general as well as an advanced overview of the key trends in childhood obesity. Obesity is an illness that occurs due to a combination of genetic, environmental, psychosocial, metabolic and hormonal factors. The prevalence of obesity has shown a great rise both in adults and children in the last 30 years.…

  1. Childhood Obesity

    Centers for Disease Control (CDC) Podcasts

    2013-08-06

    In this podcast, Dr. Tom Frieden, CDC Director, discusses the decrease in childhood obesity rates and what strategies have been proven to work to help our children grow up and thrive.  Created: 8/6/2013 by National Center for Injury Prevention and Control.   Date Released: 3/6/2014.

  2. Gorlin syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Patil K

    2005-01-01

    Full Text Available Gorlin syndrome is an autosomal dominant inherited condition that exhibits high penetrance and variable expressivity. It is characterized mainly by Basal cell carcinomas, Odontogenic keratocysts and skeletal anomalies. However, medical literature documents both common and lesser known manifestations of the disorder involving the skin, central nervous system, skeletal system etc. Diagnosis of the syndrome in childhood is basically through oral abnormalities. A case of Gorlin syndrome has been reported here, with review of literature.

  3. Polycystic Ovary Syndrome in Adolescence

    OpenAIRE

    Buggs, Colleen; Rosenfield, Robert L.

    2005-01-01

    Polycystic ovary syndrome (PCOS) is a syndrome of variable combinations of menstrual irregularity, hirsutism or acne, and obesity. It can be diagnosed in adolescence and has early childhood antecedents. PCOS is the single most common endocrine cause of anovulatory infertility and a major risk factor for the metabolic syndrome and, in turn, development of type 2 diabetes mellitus (T2DM) in women. Thus, it appears that PCOS increases a woman’s risk of developing cardiovascular disease. Therefor...

  4. Childhood Obesity and Risk of Pediatric MS

    Directory of Open Access Journals (Sweden)

    J. Gordon Millichap

    2013-03-01

    Full Text Available Researchers at Kaiser Permanente of Southern California studied a possible relation between childhood obesity and pediatric-onset multiple sclerosis (MS or its potential precursor, clinically isolated syndrome (CIS, which encompasses optic neuritis (ON and transverse myelitis (TM.

  5. Adiponectin in childhood.

    Science.gov (United States)

    Jeffery, Alison N; Murphy, Michael J; Metcalf, Brad S; Hosking, Joanne; Voss, Linda D; English, Patrick; Sattar, Naveed; Wilkin, Terence J

    2008-01-01

    Adiponectin, a hormone produced and secreted by adipocytes, is present in circulation in high circulating concentrations, suggesting an important physiological role. An indirect regulator of glucose metabolism, adiponectin increases insulin sensitivity, improves glucose tolerance and inhibits inflammation. Plasma adiponectin relates inversely to adiposity and, importantly, reflects the sequelae of accumulation of excess adiposity. The role of adiponectin in adults has been explored in detail. Studies in children are now available and, given the increasing rates of childhood obesity, it is important to establish the role of adiponectin in mediating insulin resistance and cardiovascular disease in this age group. This paper reviews the regulation of adiponectin, its effect on body mass, glucose metabolism and cardiovascular risk in infants, children and adolescents. It demonstrates clear links between adiponectin and features of the metabolic syndrome in obese children and adolescents. However, adiponectin's role as a predictor of metabolic dysfunction in healthy, normal-weight youngsters is less clear. PMID:19086185

  6. Childhood vitiligo

    Directory of Open Access Journals (Sweden)

    Aparna Palit

    2012-01-01

    Full Text Available Childhood vitiligo is often encountered in dermatological practice. When present in infancy or early childhood, various nevoid and hereditary disorders are to be differentiated. In many cases, familial aggregation of the disease is seen and other autoimmune disorders may be associated. Segmental presentation is more common, and limited body surface area involvement is usual in this age group. Children with vitiligo often suffer from anxiety and depression because of their unusual appearance. Management of vitiligo in children is difficult as therapeutic options are restricted when compared to that in adult patients. Selection of treatment should be careful in these patients with the aim to achieve best results with minimal side effects as well as relieving patients′ and parents′ anxiety.

  7. Childhood psoriasis

    OpenAIRE

    Dogra Sunil; Kaur Inderjeet

    2010-01-01

    Psoriasis is a common dermatosis in children with about one third of all patients having onset of disease in the first or second decade of life. A chronic disfiguring skin disease, such as psoriasis, in childhood is likely to have profound emotional and psychological effects, and hence requires special attention. Psoriasis in children has been reported to differ from that among adults being more frequently pruritic; plaque lesions are relatively thinner, softer, and less scaly; face and flexu...

  8. Combined dyslipidemia in childhood.

    Science.gov (United States)

    Kavey, Rae-Ellen W

    2015-01-01

    Combined dyslipidemia (CD) is now the predominant dyslipidemic pattern in childhood, characterized by moderate-to-severe elevation in triglycerides and non-high-density lipoprotein cholesterol (non-HDL-C), minimal elevation in low-density lipoprotein cholesterol (LDL-C), and reduced HDL-C. Nuclear magnetic resonance spectroscopy shows that the CD pattern is represented at the lipid subpopulation level as an increase in small, dense LDL and in overall LDL particle number plus a reduction in total HDL-C and large HDL particles, a highly atherogenic pattern. In youth, CD occurs almost exclusively with obesity and is highly prevalent, seen in more than 40% of obese adolescents. CD in childhood predicts pathologic evidence of atherosclerosis and vascular dysfunction in adolescence and young adulthood, and early clinical cardiovascular events in adult life. There is a tight connection between CD, visceral adiposity, insulin resistance, nonalcoholic fatty liver disease, and the metabolic syndrome, suggesting an integrated pathophysiological response to excessive weight gain. Weight loss, changes in dietary composition, and increases in physical activity have all been shown to improve CD significantly in children and adolescents in short-term studies. Most importantly, even small amounts of weight loss are associated with significant decreases in triglyceride levels and increases in HDL-C levels with improvement in lipid subpopulations. Diet change focused on limitation of simple carbohydrate intake with specific elimination of all sugar-sweetened beverages is very effective. Evidence-based recommendations for initiating diet and activity change are provided. Rarely, drug therapy is needed, and the evidence for drug treatment of CD in childhood is reviewed. PMID:26343211

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

    DEFF Research Database (Denmark)

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

    2014-01-01

    interval. The proband presented with an aborted cardiac arrest, and his mother died suddenly and unexpectedly at the age of 65. Flecainide treatment revealed coved ST elevation in all mutation carriers. Electrophysiological investigations of the mutant in HEK293 cells indicated a reduced peak current, a...

  10. Childhood Traumatic Grief

    Science.gov (United States)

    ... Educators Resources for Kids and Teens Childhood Traumatic Grief What is Childhood Traumatic Grief? Children grieve in their own way following the ... child may have a condition called Childhood Traumatic Grief (CTG). Thinking about the person who died—even ...

  11. Childhood Cancer Statistics

    Science.gov (United States)

    ... Shop With CureSearch Blog Donate Now Select Page Childhood Cancer Statistics Home > Understanding Children’s Cancer > Childhood Cancer Statistics Childhood Cancer Statistics – Graphs and Infographics Number of Diagnoses ...

  12. Cranial nerve palsies in childhood.

    Science.gov (United States)

    Lyons, C J; Godoy, F; ALQahtani, E

    2015-02-01

    We review ocular motor cranial nerve palsies in childhood and highlight many of the features that differentiate these from their occurrence in adulthood. The clinical characteristics of cranial nerve palsies in childhood are affected by the child's impressive ability to repair and regenerate after injury. Thus, aberrant regeneration is very common after congenital III palsy; Duane syndrome, the result of early repair after congenital VI palsy, is invariably associated with retraction of the globe in adduction related to the innervation of the lateral rectus by the III nerve causing co-contraction in adduction. Clinical features that may be of concern in adulthood may not be relevant in childhood; whereas the presence of mydriasis in III palsy suggests a compressive aetiology in adults, this is not the case in children. However, the frequency of associated CNS abnormalities in III palsy and the risk of tumour in VI palsy can be indications for early neuroimaging depending on presenting features elicited through a careful history and clinical examination. The latter should include the neighbouring cranial nerves. We discuss the impact of our evolving knowledge of congenital cranial dysinnervation syndromes on this field. PMID:25572578

  13. Short QT syndrome

    Directory of Open Access Journals (Sweden)

    Fiorenzo Gaita

    2011-12-01

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

  14. [A woman with beta-propeller protein-associated neurodegeneration identified by the WDR45 mutation presenting as Rett-like syndrome in childhood].

    Science.gov (United States)

    Morisada, Naoya; Tsuneishi, Syuichi; Taguchi, Kazuhiro; Yagi, Ryuzaburo; Nishiyama, Masahiro; Toyoshima, Daisaku; Nakagawa, Taku; Takeshima, Yasuhiro; Takada, Satoshi; Iijima, Kazumoto

    2016-05-01

    Beta-propeller protein-associated neurodegeneration (BPAN) is one of the neurodegenerative disorders characterized by iron deposition in the brain and is the only known disease in humans to be caused by an aberration in autophagocytosis. Here, we present the case of a 42-year-old woman with BPAN identified by the WDR45 mutation. From early childhood, she was recognized as having global developmental delay, and she frequently sucked her hand, which was considered to be a stereotypical movement. She had a febrile convulsion at 6 months of age but there was no history of epilepsy. The delay in language development was more severe than the delay in motor development; she was able to dress herself, walk unaided, and follow simple instructions until adolescence. After the age of 20, her movement ability rapidly declined. By the time she was 42 years old, she was bedridden and unable to communicate. Brain magnetic resonance imaging (MRI) at 21 years revealed no abnormality except non-specific cerebral atrophy. However, MRI at 39 years revealed abnormalities in the globus pallidus and substantia nigra, with neurodegeneration and iron accumulation in the brain. Genetic analysis for WDR45 revealed that she had a splice site mutation (NM_007075.3: c.830 + 2 T > C) which was previously reported, and a diagnosis of BPAN was confirmed. For specific therapies to be developed for BPAN in the future, it is necessary to establish early diagnosis, including genetic analysis. PMID:27349085

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

    OpenAIRE

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

    2010-01-01

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

  16. Beckwith-Wiedemann syndrome: dental management.

    LENUS (Irish Health Repository)

    Garvey, M T

    1997-06-01

    Beckwith-Wiedemann syndrome (BWS) comprises multiple congenital anomalies with a risk of childhood tumours. Macroglossia is the most common manifestation. Two cases are presented to illustrate the importance of early referral and the role of preventive dentistry.

  17. Childhood psoriasis

    Directory of Open Access Journals (Sweden)

    Dogra Sunil

    2010-01-01

    Full Text Available Psoriasis is a common dermatosis in children with about one third of all patients having onset of disease in the first or second decade of life. A chronic disfiguring skin disease, such as psoriasis, in childhood is likely to have profound emotional and psychological effects, and hence requires special attention. Psoriasis in children has been reported to differ from that among adults being more frequently pruritic; plaque lesions are relatively thinner, softer, and less scaly; face and flexural involvement is common and guttate type is the characteristic presentation. Whether onset in childhood predicts a more severe form of psoriasis is a matter of controversy, it may cause significant morbidity particularly if it keeps relapsing. Most children have mild form of psoriasis which can be generally treated effectively with topical agents such as emollients, coal tar, corticosteroids, dithranol, calcipotriol etc. according to age and the sites affected. Narrow band UVB is the preferred form of phototherapy in children for moderate to severe disease or in patients not responding to topical therapy alone. Systemic therapies are reserved for more severe and extensive cases that cannot be controlled with topical treatment and/or phototherapy such as severe plaque type, unstable forms like erythrodermic and generalized pustular psoriasis and psoriatic arthritis. There are no controlled trials of systemic therapies in this age group, most experience being with retinoids and methotrexate with favorable results. Cyclosporine can be used as a short-term intermittent crisis management drug. There is an early promising experience with the use of biologics (etanercept and infliximab in childhood psoriasis. Systemic treatments as well as phototherapy have limited use in children due to cumulative dose effects of drugs, low acceptance, and risk of gonadal toxicity. More evidence-based data is needed about the effectiveness and long-term safety of topical

  18. Perinatal Risk Factors for Childhood Leukemia

    OpenAIRE

    Naumburg, Estelle

    2002-01-01

    The aim of the studies described in this thesis was to assess the association between certain perinatal factors and the risk of childhood lymphatic and myeloid leukemia and infant leukemia. The five studies presented were all conducted in Sweden as population-based case-control studies. All cases were born and diagnosed between 1973-89 with leukemia up to the age of 16 years. A control was individually matched to each case. As Down’s syndrome entails a major risk for childhood leukemia, chil...

  19. Acute acquired comitant esotropia of childhood

    DEFF Research Database (Denmark)

    Hesgaard, Helena; Vinding, Troels

    2015-01-01

    : In all, 48 cases were recorded. The mean age at onset was 4.7 years, being significantly higher among children with intracranial disease. Seven cause-specific types of AACE in childhood were identified: The acute accommodative (n = 15, 31%), decompensated monofixation syndrome or esophoria (n = 13...... AACE and by review of literature, we identified seven cause-specific types of AACE. Intracranial disease was present in 6%, and four risk factors were identified to guide clinicians when to perform brain imaging. Findings suggest AACE of childhood to be differentiated from AACE of adulthood....

  20. An Evaluation of Acylated Ghrelin and Obestatin Levels in Childhood Obesity and Their Association with Insulin Resistance, Metabolic Syndrome, and Oxidative Stress

    Science.gov (United States)

    Razzaghy-Azar, Maryam; Nourbakhsh, Mitra; Pourmoteabed, Abdolreza; Nourbakhsh, Mona; Ilbeigi, Davod; Khosravi, Mohsen

    2016-01-01

    Background: Ghrelin is a 28-amino acid peptide with an orexigenic property, which is predominantly produced by the stomach. Acylated ghrelin is the active form of this hormone. Obestatin is a 23-amino acid peptide which is produced by post-translational modification of a protein precursor that also produces ghrelin. Obestatin has the opposite effect of ghrelin on food intake. The aim of this study was to evaluate acylated ghrelin and obestatin levels and their ratio in obese and normal-weight children and adolescents, and their association with metabolic syndrome (MetS) parameters. Methods: Serum acyl-ghrelin, obestatin, leptin, insulin, fasting plasma glucose (FPG), lipid profile, and malondialdehyde (MDA) were evaluated in 73 children and adolescents (42 obese and 31 control). Insulin resistance was calculated by a homeostasis model assessment of insulin resistance (HOMA-IR). MetS was determined according to IDF criteria. Results: Acyl-ghrelin levels were significantly lower in obese subjects compared to the control group and lower in obese children with MetS compared to obese subjects without MetS. Obestatin was significantly higher in obese subjects compared to that of the control, but it did not differ significantly among those with or without MetS. Acyl-ghrelin to obestatin ratio was significantly lower in obese subjects compared to that in normal subjects. Acyl-ghrelin showed significant negative and obestatin showed significant positive correlations with body mass index (BMI), BMI Z-score, leptin, insulin, and HOMA-IR. Acyl-ghrelin had a significant negative correlation with MDA as an index of oxidative stress. Conclusion: Ghrelin is decreased and obestatin is elevated in obesity. Both of these hormones are associated with insulin resistance, and ghrelin is associated with oxidative stress. The balance between ghrelin and obestatin seems to be disturbed in obesity. PMID:27348010

  1. Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome

    OpenAIRE

    Kratz, Christian P; Holter, Spring; Etzler, Julia; Lauten, Melchior; Pollett, Aaron; Charlotte M. Niemeyer; Gallinger, Steven; Wimmer, Katharina

    2009-01-01

    Abstract Background: Biallelic germline mutations in the mismatch repair genes MLH1, MSH2, MSH6 or PMS2 cause a recessive childhood cancer syndrome characterized by early-onset malignancies and signs reminiscent of neurofibromatosis type 1 (NF1). Alluding to the underlying genetic defect we refer to this syndrome as constitutional mismatch repair-deficiency (CMMR-D) syndrome. The tumor spectrum of CMMR-D syndrome includes hematological neoplasias, brain tumors and Lynch syndrome as...

  2. How Are Childhood Cancers Found?

    Science.gov (United States)

    ... Topic How are childhood cancers treated? How are childhood cancers found? Screening for childhood cancers Screening is testing for a disease such ... in people who don’t have any symptoms. Childhood cancers are rare, and there are no widely ...

  3. Application of nuclear medicine to heart diseases in childhood

    International Nuclear Information System (INIS)

    Various procedures to obtain radioisotopic images of the cardiovascular system were described, and representative cases in childhood were presented. Apparatuses, radiopharmaceuticals such as sup(99m)Tc pertechnatate, 201Thallium, and 133Xenon gas, and their dosage in childhood were briefly reviewed. Several cases of persistent fetal circulation, common A-V valve, tetralogy of Fallot, pulmonary atresia, etc. were presented with figures with special emphasis on acute febrile mucocutaneous lymph node syndrome and 201Thallium myocardial imaging. (Kondo, M.)

  4. Application of nuclear medicine to heart diseases in childhood

    Energy Technology Data Exchange (ETDEWEB)

    Tsuji, A. (Yamanashi Medical Coll., Tamaho, Kofu (Japan)); Osano, M.

    1981-06-01

    Various procedures to obtain radioisotopic images of the cardiovascular system were described, and representative cases in childhood were presented. Apparatuses, radiopharmaceuticals such as sup(99m)Tc pertechnatate, /sup 201/Thallium, and /sup 133/Xenon gas, and their dosage in childhood were briefly reviewed. Several cases of persistent fetal circulation, common A-V valve, tetralogy of Fallot, pulmonary atresia, etc. were presented with figures with special emphasis on acute febrile mucocutaneous lymph node syndrome and /sup 201/Thallium myocardial imaging.

  5. Mitral valve disease in Marfan's syndrome.

    OpenAIRE

    Marlow, N; Gregg, J. E.; Qureshi, S A

    1987-01-01

    Cardiovascular disease in Marfan's syndrome presenting in childhood affects the mitral valve more often than the aortic valve or the aorta, as in adults. Early evaluation of the cardiovascular system is necessary for any child in whom Marfan's syndrome is suspected.

  6. 儿童阻塞性睡眠呼吸暂停低通气综合征麻醉方式的选择%Choose the method of anesthetization for childhood obstructive sleep apnea hypopnea syndrome

    Institute of Scientific and Technical Information of China (English)

    段宗瑾; 朱明

    2010-01-01

    目的 探讨手术治疗儿童阻塞性睡眠呼吸暂停低通气综合征(OSAHS)的麻醉方式.方法 选择98例扁桃体伴腺样体肥大患儿,随机分为局部浸润麻醉组(局麻组)和全身静脉麻醉组(全麻组).局麻组行扁桃体挤切、腺样体刮除;全麻组行扁桃体剥离术,小儿鼻内镜直视下腺样体刮除.对两组出血量、手术时间、进食时间、术后残体、住院费用及手术疗效进行比较.结果 全麻组术中出血多,手术时间长,住院费用高;而局麻组术后残体多,个别患儿不配合需改用全麻.但两种麻醉方式下,术后睡眠打鼾、张口呼吸、憋气等症状明显改善,手术疗效几乎相同.结论 两种麻醉方式各有优缺点,但局麻下手术治疗儿童OSAHS与全麻一样安全有效,应针对不同情况选择.%Objective To discuss how to choose the method of anesthetization for childhood obstructive sleep apnea hypopnea syndrome(OSAHS).Methods 98 children with tonsillar and adenoidal hypertrophy were seleted,and were randomly divided into two groups.Tonsillectomy and adenoidectomy were performed for the group with local infiltration anesthesia,while Tonsil dissection and endoscopic-assisted adenoidectomy through nose were for the group with intravenous general anesthesia.Then blood loss,operation time,intake time,operation damage,psychological trau-ma,hospitalization fares and operative efficacy were compared.Results The group with general anesthesia lost more blood,underwent longer operations with higher cost;the group with local anesthesia had more operation damage,grea-ter psyhologieal trauma and sometimes general anesthesia was necessary for the children who didn't cooperate.But these two methods of anesthetization almost had the same operative efficacy,and the symptoms such as snoring,oral breathing and suffocating were significantly improved after surgery.Condusion Every method had own advantages and disadvantages.Local anesthesia was as effective as

  7. Childhood medulloblastoma.

    Science.gov (United States)

    Massimino, Maura; Biassoni, Veronica; Gandola, Lorenza; Garrè, Maria Luisa; Gatta, Gemma; Giangaspero, Felice; Poggi, Geraldina; Rutkowski, Stefan

    2016-09-01

    Medulloblastoma accounts for 15-20% of childhood nervous system tumours. The risk of dying was reduced by 30% in the last twenty years. Patients are divided in risk strata according to post-surgical disease, dissemination, histology and some molecular features such as WNT subgroup and MYC status. Sixty to 70% of patients older than 3 years are assigned to the average-risk group. High-risk patients include those with disseminated and/or residual disease, large cell and/or anaplastic histotypes, MYC genes amplification. Current and currently planned clinical trials will: (1) evaluate the feasibility of reducing both the dose of craniospinal irradiation and the volume of the posterior fossa radiotherapy (RT) for those patients at low biologic risk, commonly identified as those having a medulloblastoma of the WNT subgroup; (2) determine whether intensification of chemotherapy (CT) or irradiation can improve outcome in patients with high-risk disease; (3) find target therapies allowing tailored therapies especially for relapsing patients and those with higher biological risk. PMID:27375228

  8. 46,XX Male Syndrome

    Directory of Open Access Journals (Sweden)

    Bekir Uçan

    2013-06-01

    Full Text Available 46, XX male syndrome – testicular disorder of sexual differentiation (DSD is a rare condition characterized by a spectrum of clinical presentations, ranging from ambiguous to normal male genitalia. These cases are diagnosed more easily in childhood. In adults, the diagnosis can be difficult due to the current normal gender development. Here, we report hormonal, molecular and cytogenetic results in an adult male patient with primary hypogonadism who was diagnosed with 46, XX male syndrome in our clinic. Turk Jem 2013; 17: 46-8

  9. Noonan syndrome and chylothorax

    International Nuclear Information System (INIS)

    Chylothorax during childhood usually develops as a result of posto-perative complications following cardiothoracic surgery. It is rarely due to the malformations of the lymphatic system associated with dysmorphic syndrome. We report two cases of Noonan syndrome involving neonatal development of chylothorax. In children with the Noonan phenotype who develop pleural effusion during the neonatal period in the absence of obstetric trauma, it is advisable to rule out the presence of congenital lymphatic malformation and study the pleural effusion, initially introducing conservative treatment with dietary therapy. Chest radiography, ultrasound and computed tomography reveal the presence of the pleural effusion and parenchymal pattern compatible with chloroethoxy and lymphangiectasis. (Author) 15 refs

  10. Childhood Brain Tumors

    Science.gov (United States)

    ... They are among the most common types of childhood cancers. Some are benign tumors, which aren't ... can still be serious. Malignant tumors are cancerous. Childhood brain and spinal cord tumors can cause headaches ...

  11. Childhood Brain Tumors

    Science.gov (United States)

    Brain tumors are abnormal growths inside the skull. They are among the most common types of childhood ... still be serious. Malignant tumors are cancerous. Childhood brain and spinal cord tumors can cause headaches and ...

  12. Childhood Overweight and Obesity

    Science.gov (United States)

    ... Childhood Obesity Facts The prevalence of obesity among low-income children aged 2 through 4 years, by state ... Obesity now affects 1 in 6 children and adolescents in the United States. Childhood Obesity Facts How ...

  13. Reducing Childhood Obesity

    Science.gov (United States)

    ... Navigation Bar Home Current Issue Past Issues Reducing Childhood Obesity Past Issues / Summer 2007 Table of Contents For ... page please turn Javascript on. The We Can! childhood obesity-prevention program involves parents, caregivers, and community leaders ...

  14. Childhood Obesity – 2010: Progress and Challenges

    OpenAIRE

    Han, Joan C.; Lawlor, Debbie A.; Kimm, Sue Y.S.

    2010-01-01

    The worldwide prevalence of childhood obesity has increased greatly over the past 3 decades. The increasing occurrence in children of disorders, such as type 2 diabetes, is believed to be a consequence of this obesity epidemic. Much progress has been made in understanding the genetics and physiology of appetite control and from this, the elucidation of the causes of some rare obesity syndromes. However, these rare disorders have so far taught us only limited lessons on how to prevent or rever...

  15. CHILDHOOD PSYCHOPATHOLOGY MEAUSREMENT SCHEDULE: DEVELOPMENT AND STANDARDIZATION*

    OpenAIRE

    Malhotra, Savita; Varma, V.K.; Verma, S.K.; Malhotra, Anil

    1988-01-01

    SUMMARY Development and standardization of an instrument Childhood Psychopathology Measurement Schedule (CPMS) to assess psychopathology in children is reported. CPMS is standardized on Indian population and is applicable to children of both sexes in the age range of 4-14 years. It measures overall psychopathology in the form of a total scores and also the type of psychopathology in the form of eight factorially derived syndromes which have satisfactory reliability and validity. CPMS is propo...

  16. Treatment of Tourette Syndrome

    OpenAIRE

    Kurlan, Roger M.

    2013-01-01

    Tourette’s syndrome (TS) consists of chronic motor and phonic tics and characteristically begins in childhood. The tics can be disabling and commonly associated behavioral comorbities such as attention deficit hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD), can also cause problems in daily functioning. The underlying etiology and neurobiology of TS remain unknown although genetic factors appear to be important, cortical control of basal ganglia motor function appears to...

  17. Pathogenesis of neurocognitive and neuropsychiatric manifestations in childhood-onset lupus: An overview

    OpenAIRE

    Tanya Baqai; Isenberg, David A; Yiannis Ioannou

    2013-01-01

    This review explores current understanding of neuropsychiatric systemic lupus erythe-matosus (NPSLE) of childhood onset, in particular neurocognitive impairment. As yet, fewer studies have focused on childhood onset NPSLE compared to adult onset NPSLE and diagnosis still involves the 1999 American College of Rheumatology case definitions of neuropsychiatric syndromes, which were developed for adults. Although a validated core set of neuropsychometric tests exist for childhood onset NPSLE, the...

  18. Schizophrenia patients with a history of childhood trauma have a pro-inflammatory phenotype

    OpenAIRE

    Dennison, Una; McKernan, Declan P.; Cryan, John F; Dinan, Timothy G.

    2012-01-01

    Background. Increasing evidence indicates that childhood trauma is a risk factor for schizophrenia and patients with this syndrome have a pro-inflammatory phenotype. We tested the hypothesis that the pro-inflammatory phenotype in schizophrenia is associated with childhood trauma and that patients without a history of such trauma have a similar immune profile to healthy controls. Method. We recruited 40 schizophrenia patients and 40 controls, all of whom completed the Childhood Trauma ...

  19. Beals Syndrome

    Science.gov (United States)

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

  20. Chromosomal rearrangements in Tourette syndrome

    DEFF Research Database (Denmark)

    Bertelsen, Birgitte; Debes, Nanette Mol; Hjermind, Lena E;

    2013-01-01

    Tourette syndrome (TS) is a childhood-onset complex neurobiological disorder characterized by a combination of persistent motor and vocal tics and frequent presence of other neuropsychiatric comorbidities. TS shares the fate of other complex disorders, where the genetic etiology is largely unknown...

  1. Contributors to Adult Sibling Relationships and Intention to Care of Siblings of Individuals with Down Syndrome

    Science.gov (United States)

    Cuskelly, Monica

    2016-01-01

    The contribution of childhood sibling relationships to adult sibling relationships and intention to provide care was investigated in a sample in which one member of each dyad had Down syndrome. Thirty-nine adult siblings of an adult with Down syndrome who had participated in a study of sibling relationships in childhood/adolescence provided data…

  2. Childhood proptosis

    International Nuclear Information System (INIS)

    Proptosis in children is a hallmark of orbital diseases which can present a diagnostic challenge requiring thoughtful investigation. The aim of this review is to provide the reader an overview of the subject of childhood proptosis with an emphasis on the systematic and practical approach for the work-up of proptosis in children. Use of proper imaging studies is essential for the correct diagnosis. Computed tomography is a good screening test for any space occupying lesion of the orbit. Proptosis describes eye prominence due to space occupying orbital lesions. Congenital lesions usually present in the first decade of life. Acquired orbital lesions such as lymphangiomas, orbital varix, rhabdomyosarcoma and neural tumors may present at the end of the first decade of life. Metastatic tumors to the orbit, adenocarcinoma of lacrimal gland and rapidly growing masses may present with proptosis associated with pain. Visual loss can be the presenting symptoms in the patients with optic nerve (ON) gliomas, orbital meningiomas and posteriorly located tumors. Cystic lesions of the orbit may be congenital or acquired, dermoid cysts being the most common congenital orbital lesions. Some of the vascular lesions of the orbit include capillary hemangiomas, lymphangiomas, orbital varix, and arteriovenous malformations. Inflammatory process of the orbit in children include cellulitis and pseudotumor. Neural tumors such as neurofibromas, ON gilomas and meningiomas are less common causes of proptosis in children. Rhabdomyosarcoma is the most common primary orbital malignancy in children which can present with acute proptosis and is one of the few life-threatening diseases seen initially by an ophthalmologist. Secondary orbital tumors invade the orbit from adjacent sinuses, cranium or extended from the eye itself. The most common distant metastases in children include neuroblastoma and Ewing's sarcoma. Although many orbital processes can be diagnosed based on history, clinical

  3. Depressive symptoms and childhood sleep apnea syndrome

    OpenAIRE

    Carotenuto M; Esposito M; Parisi L; Gallai B; Marotta R; Pascotto A; Roccella M

    2012-01-01

    Marco Carotenuto,1 Maria Esposito,1 Lucia Parisi,2 Beatrice Gallai,3 Rosa Marotta,4 Antonio Pascotto,1 Michele Roccella21Sleep Clinic for Developmental Age, Clinic of Child and Adolescent Neuropsychiatry, Second University of Naples, Naples, Italy; 2Child Neuropsychiatry, Department of Psychology, University of Palermo, Palermo, Italy; 3Unit of Child and Adolescent Neuropsychiatry, University of Perugia, Perugia, 4Department of Psychiatry, "Magna Graecia" University of Catan...

  4. Depressive symptoms and childhood sleep apnea syndrome

    Directory of Open Access Journals (Sweden)

    Carotenuto M

    2012-08-01

    Full Text Available Marco Carotenuto,1 Maria Esposito,1 Lucia Parisi,2 Beatrice Gallai,3 Rosa Marotta,4 Antonio Pascotto,1 Michele Roccella21Sleep Clinic for Developmental Age, Clinic of Child and Adolescent Neuropsychiatry, Second University of Naples, Naples, Italy; 2Child Neuropsychiatry, Department of Psychology, University of Palermo, Palermo, Italy; 3Unit of Child and Adolescent Neuropsychiatry, University of Perugia, Perugia, 4Department of Psychiatry, "Magna Graecia" University of Catanzaro, Catanzaro, ItalyBackground: The relationship between sleep and mood regulation is well known, and some reports suggest a key role of sleep-related breathing disorders (SRBD in the development of the symptomatology of depression, even if no conclusive data are actually found in the clinical literature. The aim of this study was to assess the relationship between SRBD and depressive symptoms in a population of school-aged children.Methods: The study population comprised 94 children affected by SRBD and 107 healthy children. To identify the severity of SRBD, an overnight respiratory evaluation was performed. All subjects filled out the Italian version of the Children Depression Inventory (CDI to screen for the presence of depressive symptoms.Results: The group with SRBD showed higher CDI scores than the group without SRBD, with a positive correlation found between CDI scores, apnea-hypopnea index, and oxygen desaturation index values. Logistic regression showed that an apnea-hypopnea index ≥ 3 and an oxygen desaturation index ≥ 1 could be risk factors for development of depressive symptoms. According to receiver-operating characteristic curve analysis, the cutoff point for the apnea-hypopnea index that could cause a pathological CDI score (≥19 was >5.66, and the cutoff point for the oxygen desaturation index was >4.2. The limitations of this study are that our data are derived from one single psychometric test and not from a complete psychiatric evaluation, and our subjects came from a small group in southern Italy.Conclusion: Our results suggest the importance of mood assessment in children affected by SRBD.Keywords: depression, sleep-related breathing disorders, cardiorespiratory monitoring, children

  5. Childhood Headache Syndromes(Part I

    Directory of Open Access Journals (Sweden)

    Mohammad GHOFRANI

    2010-07-01

    Full Text Available Headache is one of the most common reason that children are referred to the Pediatric Neurology Services. It is said that ten percent of children aged 5 to 15 years have migraine. Subsequently, it is essential for clinician to have a through, comprehensive and systematic approach to the evaluation and management of the child or adolescent who complain of headache.This writing aims to explore the symptoms of headache, its epidemiology, classification, appropriate evaluation, differential diagnosis and management.Headaches are divided into primary and secondary categories. Migraine and tension type headaches are prototype of primary headaches without underlying pathology. On the other hand, the type of headache which stems from organic diseases such as: brain tumor, increased intracranial pressure, systemic disease, drug toxicity or Ear Nose  and Throat problems are considered secondary. On the whole, the majority of children with primary headache have two patterns of headache. One is a chronic low-grade and the other is an intermittent disabling headache. The cause of the former is either caffeine or analgesic abuse, and the latter is predominantly migraine. Traditionally, if a child presents himself with chief complain of headache, care taker physician begins with history taking followed by thorough physical and neurological examinations. In the majority of the cases, this initial process leads to a diagnosis or indicate the need for further testing. Once the diagnosis is made, a management program can be put into place.Key words: Headaches, Child,  Children, Migraine. 

  6. Childhood Headache Syndromes(Part I

    Directory of Open Access Journals (Sweden)

    Mohammad Ghofrani

    2010-06-01

    Full Text Available AbstractHeadache is one of the most common reason that children are referred to the Pediatric Neurology Services. It is said that ten percent of children aged 5 to 15 years have migraine. Subsequently, it is essential for clinician to have a through, comprehensive and systematic approach to the evaluation and management of the child or adolescent who complain of headache.This writing aims to explore the symptoms of headache, its epidemiology, classification, appropriate evaluation, differential diagnosis and management.Headaches are divided into primary and secondary categories. Migraine and tension type headaches are prototype of primary headaches without underlying pathology. On the other hand, the type of headache which stems from organic diseases such as: brain tumor, increased intracranial pressure, systemic disease, drug toxicity or Ear Nose and Throat problems are considered secondary. On the whole, the majority of children with primary headache have two patterns of headache. One is a chronic low-grade and the other is an intermittent disabling headache. The cause of the former is either caffeine or analgesic abuse, and the latter is predominantly migraine. Traditionally, if a child presents himself with chief complain of headache, care taker physician begins with history taking followed by thorough physical and neurological examinations. In the majority of the cases, this initial process leads to a diagnosis or indicate the need for further testing. Once the diagnosis is made, a management program can be put into place.Headaches, Child, Children, Migraine.

  7. CHILDHOOD HEADACHE SYNDROMES(PART II

    Directory of Open Access Journals (Sweden)

    Mohammad GHOFRANI

    2010-10-01

    Full Text Available ObjectiveHeadache is one of the most common reason that children are referred to the Pediatric Neurology Services. It is said that ten percent of children aged 5 to 15 years have migraine.Subsequently, it is essential for clinician to have a through, comprehensive and systematic approach to the evaluation and management of the child or adolescent who complains of headache.This writing aims to explore the symptoms of headache, its epidemiology, classification, appropriate evaluation, differential diagnosis and management.Headaches are divided into primary and secondary categories. Migraine and tension type headaches are prototype of primary headaches without underlying pathology. On the other hand, the type of headache which stems from organic diseases such as: brain tumor, increased intracranial pressure, systemic disease, drug toxicity, ear-nose and throat problems are considered secondary.On the whole, the majority of children with primary headache have two patterns of headache. One is a chronic low-grade and the other is an intermittent disabling headache. The cause of the former is either caffeine or analgesic abuse, and the latter is predominantly migraine.Traditionally, if a child presents himself with chief complain of headache, care taker physician begins with history taking followed by thorough physical and neurological examinations.In the majority of the cases, this initial process leads to a diagnosis or indicate the need for further testing.Once the diagnosis is made, a management program can be put into place.Keywords:Headaches, Child, Children, Migraine

  8. CHILDHOOD HEADACHE SYNDROMES(PART II

    Directory of Open Access Journals (Sweden)

    Mohammad GHOFRANI

    2010-09-01

    Full Text Available ObjectiveHeadache is one of the most common reason that children are referred to the Pediatric Neurology Services. It is said that ten percent of children aged 5 to 15 years have migraine.Subsequently, it is essential for clinician to have a through, comprehensive and systematic approach to the evaluation and management of the child or adolescent who complains of headache.This writing aims to explore the symptoms of headache, its epidemiology, classification, appropriate evaluation, differential diagnosis and management.Headaches are divided into primary and secondary categories. Migraine and tension type headaches are prototype of primary headaches without underlying pathology. On the other hand, the type of headache which stems from organic diseases such as: brain tumor, increased intracranial pressure, systemic disease, drug toxicity, ear-nose and throat problems are considered secondary.On the whole, the majority of children with primary headache have two patterns of headache. One is a chronic low-grade and the other is an intermittent disabling headache. The cause of the former is either caffeine or analgesic abuse, and the latter is predominantly migraine.Traditionally, if a child presents himself with chief complain of headache, care taker physician begins with history taking followed by thorough physical and neurological examinations.In the majority of the cases, this initial process leads to a diagnosis or indicate the need for further testing.Once the diagnosis is made, a management program can be put into place.

  9. Metabolic Syndrome in Childhood Cancer Survivors

    OpenAIRE

    Waas, Marjolein

    2012-01-01

    textabstractOver 200,000 children under the age of fifteen are diagnosed with cancer worldwide every year. Cancer is the second most common cause of death among children between the ages of 1 and 14 years in developed countries, surpassed only by accidents.Nearly one third of the cancers diagnosed in children are leukemias (particularly acute lymphoblastic leukemia (ALL)), followed by cancer of the brain or central nervous system (21%), soft tissue sarcomas (including neuroblastoma (7%) and r...

  10. Genetics Home Reference: autoimmune polyglandular syndrome, type 1

    Science.gov (United States)

    ... by mistake. In most cases, the signs and symptoms of autoimmune polyglandular syndrome, type 1 begin in childhood or adolescence. This condition is characterized by three specific features: mucocutaneous candidiasis, hypoparathyroidism, and Addison disease. Affected individuals typically have ...

  11. Senior-Loken syndrome in an Iranian family

    Directory of Open Access Journals (Sweden)

    Roozbeh Jamshid

    2010-01-01

    Full Text Available Senior-Loken syndrome is a rare entity that combines familial juvenile nephro-nophthisis with retinal dystrophy. Herein, we report Senior-Loken syndrome in six members of an Iranian family with progressive blindness and renal failure since childhood. Although, this syn-drome was reported from other parts of the world, report of six members of one family with this syndrome is rare. To the best of our knowledge, this is the first report from Iran.

  12. Pharmacotherapy for Dravet Syndrome.

    Science.gov (United States)

    Wallace, Adam; Wirrell, Elaine; Kenney-Jung, Daniel L

    2016-06-01

    Dravet syndrome (DS) is an intractable pediatric epilepsy syndrome, starting in early childhood. This disorder typically manifests with febrile status epilepticus, and progresses to a multifocal epilepsy with febrile and non-febrile seizures with encephalopathy. Most cases are due to a mutation in the SCN1A gene. This article reviews treatments for DS, with an emphasis on pharmacotherapy. While many medications are used in treating the seizures associated with DS, these patients typically have medically refractory epilepsy, and polytherapy is often required. First-line agents include valproate and clobazam, although there are supportive data for topiramate, levetiracetam, stiripentol and the ketogenic diet. Other agents such as fenfluramine are promising therapies for Dravet syndrome. Sodium channel-blocking anticonvulsants such as carbamazepine and lamotrigine are generally contraindicated in this syndrome. Nonpharmacologic therapies (such as neurostimulation or surgery) are understudied in DS. Because DS is a global encephalopathy, pharmacologic treatment of non-epileptic manifestations of the disease is often necessary. Attention-deficit hyperactivity disorder is often encountered in patients with DS, and psychostimulants can be helpful for this indication. Other psychoactive drugs are less studied in this context. Extrapyramidal and gait disorders are often encountered in DS as well. While DS is a severe epileptic encephalopathy with a high (up to 15 %) mortality rate in childhood, careful pharmacologic management can improve these patients' clinical picture and quality of life. PMID:26966048

  13. Clinical and Experimental Study on Treatment of Childhood Hyperkinetic Syndrome with Yizhidan%益智丹治疗儿童多动症的临床与实验研究

    Institute of Scientific and Technical Information of China (English)

    陈永辉; 黄斌; 赵霞

    2001-01-01

    Objective:To observe the clinical effect of Yizhidan (YZD) intreating childhood hyperkinetic syndrome (CHS) and its mechanism. Methods: Random single blind method was used in clinical study to observe the clinical effect of YZD and compared with that of Ritalin. The dysmnesia model animal was used to observe the effect of YZD on learning memory function and cerebral monoamine neurotransmitter content. Results: The markedly effective rate and the total effective rate of YZD were 45.56% and 87.78%, which were similar to those of Ritalin (53.33% and 86.67%). The Conners index lowered in both groups, showing insignificant difference (P>0.05). Experimental observation showed that YZD could significantly improve the soft neurologic signs and abnormal encephalogram with less side-effects in comparing with Ritalin (P<0.05). Moreover, YZD could obviously improve the learning memory disturbance induced by scopolamine, sodium nitrite and ethanol, and significantly increased the contents of DA in cerebral tissue, as compared with that of the control group, the difference was significant (P<0.01). It also showed effect on DOPAC, NE, HVA, 5-HT and 5-HIAA of mice in certain degree. Conclusion: YZD is an effective drug in treating CHS, its mechanism might be probably related to the improvement of the memory and the enhancement of DA receptor in cerebral tissue.%目的:观察益智丹治疗儿童多动症(CHS)的临床疗效及其作用机制。方法:临床研究采用单盲法随机观察益智丹与利他林的临床疗效;实验研究制作记忆障碍模型,观察益智丹对小鼠学习记忆功能和对小鼠脑组织单胺类神经递质含量的影响。结果:益智丹治疗CHS的显效率、总有效率分别为45.56%、87.78%,与利他林(53.33%、86.67%)相当;Conners指数均明显降低,两组间疗效及多动指数比较差异均无显著性(P>0.05)。益智丹还能显著改善患儿软神经征及异常脑电图,副反

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

    Institute of Scientific and Technical Information of China (English)

    龚镇

    2013-01-01

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

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

    Institute of Scientific and Technical Information of China (English)

    刘红云

    2008-01-01

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

  16. Childhood trauma and childhood urbanicity in relation to psychotic disorder

    NARCIS (Netherlands)

    Frissen, Aleida; Lieverse, Ritsaert; Drukker, Marjan; van Winkel, Ruud; Delespaul, Philippe; Cahn, W

    2015-01-01

    BACKGROUND: Urban upbringing and childhood trauma are both associated with psychotic disorders. However, the association between childhood urbanicity and childhood trauma in psychosis is poorly understood. The urban environment could occasion a background of social adversity against which any effect

  17. Is Socioeconomic Position Related to the Prevalence of Metabolic Syndrome? Influence of social class across the life course in a population-based study of older men

    OpenAIRE

    Ramsay, S. E.; Whincup, P. H.; Morris, R; LENNON, L; Wannamethee, S. G.

    2008-01-01

    OBJECTIVE - To examine whether adult social class and childhood social class are related to metabolic syndrome in later life, independent of adult behavioral factors.RESEARCH DESIGN AND METHODS - This was a population-based cross-sectional study comprising 2,968 men aged 60-79 years.RESULTS - Adult social class and childhood social class were both inversely related to metabolic syndrome. Mutual adjustment attenuated the relation of metabolic syndrome with childhood social class; that with adu...

  18. Disorders of childhood growth and development: childhood obesity.

    Science.gov (United States)

    Mendez, Robert; Grissom, Maureen

    2013-07-01

    The incidence of childhood obesity in the United States is estimated at 17%, or 12 million children ages 2 to 19 years. Obesity is a multifactorial condition with syndromic and nonsyndromic variants. Genetic, social, ethnic, endocrinologic, and behavioral issues are all potential etiologic factors. Preventive efforts should begin with monitoring from birth and include breastfeeding until age 6 months, avoiding juices, and promoting fruit and vegetable consumption and adequate exercise. Childhood obesity is diagnosed based on body mass index; a child is considered overweight at the 85th to 95th percentiles and obese at or above the 95th percentile. After obesity is diagnosed, testing should include blood pressure levels, fasting lipid profile, diabetes screening, and liver function tests. The physician should obtain a detailed history of the physical activity level and food intake and assess possible complications of obesity, including depression and hypertension, annually. Lifestyle interventions with family involvement are the mainstay of management, with pharmacotherapy or bariatric surgery considered for adolescents only if intensive lifestyle modifications have failed and in the presence of comorbidities. Intervention by multiple disciplines (ie, medicine, nutrition, psychology) is recommended, and family physicians are encouraged to become more involved in encouraging physical activity and improved nutrition for children. PMID:23869391

  19. Antiphospholipid Syndrome

    Science.gov (United States)

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

  20. Childhood as a value

    OpenAIRE

    EWELINA PIECUCH

    2011-01-01

    The article encompasses the problems of childhood and its influence on the rest of one's life. I have concentrated on this crucial and specific time in life. It is demonstrated by biology, medicine, psychology, and psychoanalysis that human habits are formed in childhood. Health, hygiene and aesthetic behaviour determine one's further fate and influence life in its entirety. It is that phase of human life that determines the rest of it. In childhood children manifest their cogn...

  1. Childhood Cancer Survivor Study: An Overview

    Science.gov (United States)

    ... Cancers of Childhood Treatment Childhood Cancer Genomics Research Childhood Cancer Survivor Study: An Overview In 2016, it ... Late Effects of Treatment for Childhood Cancer .) The Childhood Cancer Survivor Study ( CCSS ), funded by the National ...

  2. Improved final height in girls with Turner's syndrome treated with growth hormone and oxandrolone

    OpenAIRE

    Karlberg, J; Nilsson, KO; AlbertssonWikland, K; Alm, J.; Aronson, S.; Gustafsson, J; Hagenäs, L; Häger, A; Ivarsson, SA; Kriström, B; Marcus, C; Moell, C; Ritzén, M; Tuvemo, T; Wattsgård, C

    1996-01-01

    The spontaneous growth process in Turner's syndrome is characterized by a progressive decline in height velocity during childhood and no pubertal growth spurt. Therefore, therapy aimed at improving height during childhood as well as increasing final height is desirable for most girls with Turner's syndrome. Forty-five girls with Turner's syndrome, 9-16 yr of age (mean age, 12.2 yr), were allocated to three study groups. Group 1 (n = 13) was initially treated with oxandrolone alone; after 1 yr...

  3. Efficacy of olanzapine versus methylphenidate treatment for childhood hyperkinetic syndrome%奥氮平与哌醋甲酯治疗儿童多动症效果对照

    Institute of Scientific and Technical Information of China (English)

    郝学儒; 崔文波

    2005-01-01

    BACKGROUND: Attention deficit and hyperkinetic disorder (ADHD) is frequently treated with psychostimulant medications, which had been shown to improve both cognitive and behavioral outcomes for most chil dren. OBJECTIVE: To compare the efficacy and adverse effects of olanzapine vs methylphenidate treatment in childhood hyperkinetic syndrome.DESIGN: Clinical comparative study. SETTING: Department of Psychiatry, Beijing Huilongguan Hospital; De partment of Mental Psychiatry, Shangdong Mouping People's Hospital. PARTICIPANT S: Sixty children with hyperkinetic syndrome from the clinics of the Department of Psychiatry,Beijing Huilongguan Hospital and the Department of Mental Psychiatry of Shandong Mouping People's Hos pital between March 2002 and April 2004 were enrolled into this prospec tive study after obtaining the consents from their guardians.The patients were randomly divided into 2 group: the olanzapine group (n=30) and the methylphenidate group (n=30). METHODS: In the olanzapine group olanzapine 2.5-7.5 mg per day was given as a single dose in every evening.In the methylphenidate group methylphenidate 5-15 mg per day was given in divided dose in every morning and evening.The dosage ofolanzapine and methylphenidate were adjusted according to age, body mass and patient's clinical condi tions. And the period of treatment for either drug was 12 weeks. Conners teachers scale was used before and at the end of the 12 weektreatment (①hyperkinetic index consisted of 10 items②hyperkinetic behavior factor consisted of 7 items. Each item was rated “none=0, a little=1, quite a lot=2, and very much=3 ). Side effect scale was used to evaluate the hy perkinetic symptom and adverse reactions which consisted of behavior toxicity, abnormal laboratory tests , symptoms of the nervous system, au tonomic nervous system, cardiovascular system and skin etc with. 0=none; 1 =suspicious or very mild, 2=mild, 3 =moderate, 4=severe. The highest score was 22,and the lowest was 0 with a

  4. Total Marrow and Lymphoid Irradiation and Chemotherapy Before Donor Transplant in Treating Patients With Myelodysplastic Syndrome or Acute Leukemia

    Science.gov (United States)

    2016-08-10

    Adult Acute Lymphoblastic Leukemia in Complete Remission; Acute Myeloid Leukemia in Remission; Previously Treated Myelodysplastic Syndrome; Recurrent Adult Acute Lymphoblastic Leukemia; Recurrent Adult Acute Myeloid Leukemia; Recurrent Childhood Acute Lymphoblastic Leukemia; Recurrent Childhood Acute Myeloid Leukemia; Childhood Acute Lymphoblastic Leukemia in Complete Remission

  5. Noonan syndrome

    Directory of Open Access Journals (Sweden)

    van der Burgt Ineke

    2007-01-01

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

  6. Late endocrine effects of childhood cancer.

    Science.gov (United States)

    Rose, Susan R; Horne, Vincent E; Howell, Jonathan; Lawson, Sarah A; Rutter, Meilan M; Trotman, Gylynthia E; Corathers, Sarah D

    2016-06-01

    The cure rate for paediatric malignancies is increasing, and most patients who have cancer during childhood survive and enter adulthood. Surveillance for late endocrine effects after childhood cancer is required to ensure early diagnosis and treatment and to optimize physical, cognitive and psychosocial health. The degree of risk of endocrine deficiency is related to the child's sex and their age at the time the tumour is diagnosed, as well as to tumour location and characteristics and the therapies used (surgery, chemotherapy or radiation therapy). Potential endocrine problems can include growth hormone deficiency, hypothyroidism (primary or central), adrenocorticotropin deficiency, hyperprolactinaemia, precocious puberty, hypogonadism (primary or central), altered fertility and/or sexual function, low BMD, the metabolic syndrome and hypothalamic obesity. Optimal endocrine care for survivors of childhood cancer should be delivered in a multidisciplinary setting, providing continuity from acute cancer treatment to long-term follow-up of late endocrine effects throughout the lifespan. Endocrine therapies are important to improve long-term quality of life for survivors of childhood cancer. PMID:27032982

  7. Dissociative experiences as mediators between childhood trauma and auditory hallucinations.

    Science.gov (United States)

    Perona-Garcelán, Salvador; Carrascoso-López, Francisco; García-Montes, José M; Ductor-Recuerda, María Jesús; López Jiménez, Ana Ma; Vallina-Fernández, Oscar; Pérez-Álvarez, Marino; Gómez-Gómez, María Teresa

    2012-06-01

    The purpose of this work was to study the relationship between reported traumatic experiences in childhood and positive psychotic symptoms. We hypothesized that dissociative experiences were potential mediators between childhood trauma and hallucinations, but not delusions. The sample comprised 71 patients diagnosed with psychoses. They were assessed with the Dissociative Experiences Scale (DES-II; Carlson & Putnam, 1993), a questionnaire on trauma (TQ; Davidson, Hughes, & Blazer, 1990), and the Positive and Negative Syndrome Scale (PANSS; Kay, Opler, & Lindenmayer, 1988) delusions and hallucinations items. The results showed that childhood trauma was positively associated with the dissociation scale scores (r = .40) and also the hallucination (r = .36) and delusions scale scores (r = .32). Furthermore, it was demonstrated that the dissociation variable was a potential mediator between childhood trauma and hallucinations, but not between childhood trauma and delusions. Of the 3 DES-II factors, only depersonalization showed a mediating relationship between childhood trauma and hallucinations. The main conclusion is that the impact of childhood trauma on hallucinations may not simply be direct, but mediated by dissociative experiences, especially depersonalization. Clinical implications are also briefly discussed. PMID:22589015

  8. Childhood Obesity. ERIC Digest.

    Science.gov (United States)

    Summerfield, Liane M.

    In this discussion of childhood obesity, the medical and psychological problems associated with the condition are noted. Childhood obesity most likely results from an interaction of nutritional, psychological, familial, and physiological factors. Three factors--the family, low-energy expenditure, and heredity--are briefly examined. Early…

  9. Reframing Early Childhood Leadership

    Science.gov (United States)

    Stamopoulos, Elizabeth

    2012-01-01

    Rapid changes in Australian education have intensified the role of early childhood leaders and led to unprecedented challenges. The Australian Curriculum (ACARA, 2011), mandated Australian "National Quality Framework" (NQF) for Early Childhood Education & Care (DEEWR, 2010b) and the "National Early Years Learning Framework" (EYLF) (DEEWR, 2009)…

  10. Tourette syndrome.

    Science.gov (United States)

    Cavanna, Andrea E; Termine, Cristiano

    2012-01-01

    Tourette syndrome (TS) is a neurodevelopmental disorder consisting of multiple motor and one or more vocal/phonic tics. TS is increasingly recognized as a common neuropsychiatric disorder usually diagnosed in early childhood and comorbid neuropsychiatric disorders occur in approximately 90% of patients, with attention deficit hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD) being the most common ones. Moreover, a high prevalence of depression and personality disorders has been reported. Although the mainstream of tic management is represented by pharmacotherapy, different kinds of psychotherapy, along with neurosurgical interventions (especially deep brain stimulation, DBS) play a major role in the treatment of TS. The current diagnostic systems have dictated that TS is a unitary condition. However, recent studies have demonstrated that there may be more than one TS phenotype. In conclusion, it appears that TS probably should no longer be considered merely a motor disorder and, most importantly, that TS is no longer a unitary condition, as it was previously thought. PMID:22411257

  11. Obesity in childhood and adolescence, genetic factors.

    Science.gov (United States)

    Memedi, Rexhep; Tasic, Velibor; Nikolic, Erieta; Jancevska, Aleksandra; Gucev, Zoran

    2013-01-01

    Obesity and overweight are a pandemic phenomenon in the modern world. Childhood and adolescent obesity often ends up in obesity in adults. The costs of obesity and its consequences are staggering for any society, crippling for countries in development. The etiology is complex, but most often idiopathic. Hormonal, syndromic and medication-induced obesity are well investigated. Genetic causes are increasingly described. Novel technologies such as whole exome sequencing identify ever more candidate genes influencing or causing obesity. All insights into the complex problem of obesity in a team approach to treatment: diet, psychology, medications and surgery. We briefly review epidemiology, etiology, consequences and treatment approaches in childhood and adolescent obesity, with special emphasis on emerging knowledge of its genetics. PMID:24296635

  12. Leopard syndrome

    Directory of Open Access Journals (Sweden)

    Dallapiccola Bruno

    2008-05-01

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

  13. Childhood trauma and childhood urbanicity in relation to psychotic disorder

    OpenAIRE

    Frissen, Aleida; Lieverse, Ritsaert; Drukker, Marjan; van Winkel, Ruud; Delespaul, Philippe; [...

    2015-01-01

    Background Urban upbringing and childhood trauma are both associated with psychotic disorders. However, the association between childhood urbanicity and childhood trauma in psychosis is poorly understood. The urban environment could occasion a background of social adversity against which any effect of childhood trauma increases. Also, any impact of the urban environment on likelihood of exposure to childhood trauma could be stronger in children who later develop psychotic disorder. The aim of...

  14. Childhood trauma and childhood urbanicity in relation to psychotic disorder

    OpenAIRE

    Frissen, Aleida; Lieverse, Ritsaert; Drukker, Marjan; van Winkel, Ruud; Delespaul, Philippe; Cahn, W.

    2015-01-01

    BACKGROUND: Urban upbringing and childhood trauma are both associated with psychotic disorders. However, the association between childhood urbanicity and childhood trauma in psychosis is poorly understood. The urban environment could occasion a background of social adversity against which any effect of childhood trauma increases. Also, any impact of the urban environment on likelihood of exposure to childhood trauma could be stronger in children who later develop psychotic disorder. The aim o...

  15. Rett and ICF syndromes: methylation moves into medicine

    OpenAIRE

    Kumar, Arun

    2000-01-01

    Two human genetic disorders, Rett and ICF syndromes, have recently been shown to be caused by mutations in genes encoding proteins involved in gene silencing through DNA methylation. Rett (RTT) syndrome is a progressive childhood neurodevelopmental disorder that affects females exclusively with an incidence of 1 in 10,000–15,000 female births.

  16. Kindler′s syndrome: A rare case report

    Directory of Open Access Journals (Sweden)

    Neelam Suman

    2014-01-01

    Full Text Available Kindler syndrome is a rare hereditary disorder, associated with skin fragility. 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 a 16-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma.

  17. Multispectral Brain Morphometry in Tourette Syndrome Persisting into Adulthood

    Science.gov (United States)

    Draganski, Bogdan; Martino, Davide; Cavanna, Andrea E.; Hutton, Chloe; Orth, Michael; Robertson, Mary M.; Critchley, Hugo D.; Frackowiak, Richard S.

    2010-01-01

    Tourette syndrome is a childhood-onset neuropsychiatric disorder with a high prevalence of attention deficit hyperactivity and obsessive-compulsive disorder co-morbidities. Structural changes have been found in frontal cortex and striatum in children and adolescents. A limited number of morphometric studies in Tourette syndrome persisting into…

  18. Family Environment and Behavior Problems in Children, Adolescents, and Adults with Fragile X Syndrome

    Science.gov (United States)

    Greenberg, Jan S.; Seltzer, Marsha Mailick; Baker, Jason K.; Smith, Leann E.; Warren, Steven F.; Brady, Nancy; Hong, Jinkuk

    2012-01-01

    We examine how the family environment is associated with aspects of the Fragile X syndrome phenotype during childhood, adolescence, and adulthood. Mothers of children (n = 48), adolescents (n = 85), and adults (n = 34) with Fragile X syndrome participated in a multisite study. For children and adults with Fragile X syndrome, the presence of warmth…

  19. Management of moyamoya syndrome in patients with Noonan syndrome.

    Science.gov (United States)

    Gupta, Mihir; Choudhri, Omar A; Feroze, Abdullah H; Do, Huy M; Grant, Gerald A; Steinberg, Gary K

    2016-06-01

    A few isolated reports have described an association between Noonan syndrome and cerebrovascular abnormalities, including moyamoya syndrome. These reports have been limited to pediatric patients presenting with recurrent transient ischemic attacks (TIA) or headaches. Management has primarily been pharmacologic, with only one prior report of surgical revascularization to our knowledge. We report four cases of Noonan syndrome patients presenting with headaches and/or sensorimotor strokes in childhood that caused unilateral sensorimotor impairment. Cerebral angiography and MRI revealed bilateral moyamoya syndrome. All patients underwent successful bilateral extracranial-to-intracranial revascularization. The first patient was a 10-year-old girl who presented following a hemorrhagic stroke and recovered well after indirect bypass. The second patient was an adult with a history of childhood stroke whose symptoms progressed in adulthood. She underwent a direct bypass and improved, but continued to experience TIA at her 4 year follow-up. The third patient was a 7-year-old girl with headaches and a new onset TIA who failed pharmacological therapy and subsequently underwent bilateral indirect bypass. The fourth patient was a 24-year-old woman with worsening headaches and an occluded left middle cerebral artery from unilateral moyamoya syndrome. A left sided direct bypass was completed given delayed MRI perfusion with poor augmentation. To our knowledge these are the first reported surgical cases of combined Noonan and moyamoya syndrome. These cases highlight the need to recognize moyamoya syndrome in patients with Noonan syndrome. Early surgical revascularization should be pursued in order to prevent symptom progression. PMID:26778511

  20. Origins of Epilepsy in Fragile X Syndrome

    OpenAIRE

    Hagerman, Paul J.; STAFSTROM, CARL E

    2009-01-01

    Fragile X syndrome is the leading heritable form of cognitive impairment and the leading known monogenic disorder associated with autism. Roughly one-quarter of children with this disorder have seizures, most of which are relatively benign and are resolved beyond childhood. Because of the prevalence of fragile X syndrome, numerous animal models have been developed and electrophysiological studies have taken place to investigate its pathogenesis. The investigations have yielded a wealth of inf...

  1. Sweet syndrome revealing systemic lupus erythematosus.

    LENUS (Irish Health Repository)

    Quinn, N

    2015-02-01

    Sweet Syndrome is an acute inflammatory skin eruption which is rare in children. We report a case of childhood Systemic Lupus Erythematosus (SLE) that presented with Sweet syndrome. This case is a unique presentation of a common disorder which provides a new facet for the differential diagnosis of SLE in children. It is also the first paediatric case to be reported in a Caucasian child.

  2. Childhood cancer in Africa.

    Science.gov (United States)

    Kruger, Mariana; Hendricks, Marc; Davidson, Alan; Stefan, Cristina D; van Eyssen, Ann L; Uys, Ronelle; van Zyl, Anel; Hesseling, Peter

    2014-04-01

    The majority of children with cancer live in low- and middle-income countries (LMICs) with little or no access to cancer treatment. The purpose of the paper is to describe the current status of childhood cancer treatment in Africa, as documented in publications, dedicated websites and information collected through surveys. Successful twinning programmes, like those in Malawi and Cameroon, as well as the collaborative clinical trial approach of the Franco-African Childhood Cancer Group (GFAOP), provide good models for childhood cancer treatment. The overview will hopefully influence health-care policies to facilitate access to cancer care for all children in Africa. PMID:24214130

  3. Munchausen syndrome by proxy abuse: a foundation for adult Munchausen syndrome.

    Science.gov (United States)

    Conway, S P; Pond, M N

    1995-09-01

    Symptoms fabricated by the mother, and abnormal maternal pressurising of medical staff, resulted in misinterpretation of sweat test results and a diagnosis of cystic fibrosis in a two year old child. Her mother refused to accept later medical evidence which irrefutably showed this diagnosis to be wrong. The child was extensively investigated and for most of her childhood was treated for pancreatic malabsorption. She progressed from an innocent child victim of Munchausen Syndrome by Proxy abuse to an accomplice in her mother's deception, and finally to adult Munchausen Syndrome behaviour. Munchausen Syndrome by Proxy abuse may programme a child into developing adult Munchausen Syndrome. PMID:8573056

  4. Joubert Syndrome

    Science.gov (United States)

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

  5. Marfan Syndrome

    Science.gov (United States)

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

  6. Hoffmann syndrome: a case report

    OpenAIRE

    Senanayake, Hemal MS; Dedigama, Anujaya D; De Alwis, Randil P; Thirumavalavan, Kanapathipillai

    2014-01-01

    Hoffmann syndrome is a rare form of hypothyroid myopathy in adults characterized by presence of muscle weakness, stiffness and pseudohypertrophy. We report a 39 year old male with primary hypothyroidism diagnosed at childhood and not on regular thyroxine therapy who presented with fatigue, cold intolerance, constipation, exertional breathlessness, progressive proximal muscle weakness and swelling of the legs for one year. Examination revealed pseudohypertrophy of calf muscles with marked symm...

  7. Senior Loken Syndrome

    Directory of Open Access Journals (Sweden)

    F Najafi

    2011-02-01

    Full Text Available The etiology of ESRD under the age of 20 almost is the inherited kidney disease or congenital disorders of urinary tract. NPHP/ medullary cystic disease includes a group of tubulo- genetic kidney disorders. NPHP is the cause of 15-20% ESRD in children and adolescents. The extra renal manifestations include: oculomotor Apraxia(Cogan syndrome, mental retardation, retinitis pigmentosa, (Senior- Loken syndrome liver fibrosis and skeletal disorders. Recently, on the basis of genetics and type of the protein product of these mutations, NPHP is divided to 6 types. The presented case is a 17 year old boy with end stage renal disease that he has been managed with hemodialysis. As the patient has polyuria and disturbance in vision from childhood and on physical examination he had retinitis pigmentosa and horizontal nystagmus with a history of chronic kidney disease in his 12 years old sister, and familial marriage between his parents, we suggest NPHP4 for the patient.

  8. Cardiovascular Conditions of Childhood

    Science.gov (United States)

    ... This childhood illness can result in long-term heart complications. Learn the symptoms, diagnosis and treatment for Kawasaki disease. Rheumatic Fever This inflammatory infection can occur after strep ...

  9. Reducing Childhood Obesity

    Science.gov (United States)

    ... Bar Home Current Issue Past Issues Reducing Childhood Obesity Past Issues / Summer 2007 Table of Contents For ... Ga. were the first three We Can! cities. Obesity Research: A New Approach The percentage of children ...

  10. Childhood Immunization Schedule

    Science.gov (United States)

    ... Why Immunize? Vaccines: The Basics Instant Childhood Immunization Schedule Recommend on Facebook Tweet Share Compartir Get the ... See Disclaimer for additional details. Based on Immunization Schedule for Children 0 through 6 Years of age ...

  11. Childhood vitiligo: Treatment paradigms

    Directory of Open Access Journals (Sweden)

    Amrinder Jit Kanwar

    2012-01-01

    Full Text Available Childhood vitiligo differs from the adults by showing a higher incidence in females, segmental vitiligo being more common and less frequent association with other systemic autoimmune and endocrine disorders.Childhood vitiligo is often associated with a marked psychosocial and long lasting effect on the self-esteem of the affected children and their parents, hence an adequate treatment is very essential. Treatment of vitiligo is indeed a tough challenge for the dermatologists′ more so in the background of childhood vitiligo. Although multiple therapeutic modalities are available in the therapeutic armamentarium, not all can be used in children. This brief report updates regarding various therapies available in the treatment of childhood vitiligo.

  12. Childhood Vaccine Schedule

    Science.gov (United States)

    ... Navigation Bar Home Current Issue Past Issues Childhood Vaccine Schedule Past Issues / Spring 2008 Table of Contents ... please turn Javascript on. When to Vaccinate What Vaccine Why Birth (or any age if not previously ...

  13. Tooth decay - early childhood

    Science.gov (United States)

    ... Ribeiro NM, Ribeiro MA. Breastfeeding and early childhood caries: a critical review. J Pediatr (Rio J) . 2004;80:S199-S210. Sexton S, Natale R. Risks and benefits of pacifiers. Am Fam Physician . 2009; ...

  14. Insomnia is a frequent finding in adults with Asperger syndrome

    OpenAIRE

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

    2003-01-01

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

  15. Early Childhood Caries

    OpenAIRE

    Kawashita, Yumiko; Kitamura, Masayasu; Saito, Toshiyuki

    2011-01-01

    Dental caries is one of the most common childhood diseases, and people continue to be susceptible to it throughout their lives. Although dental caries can be arrested and potentially even reversed in its early stages, it is often not self-limiting and progresses without proper care until the tooth is destroyed. Early childhood caries (ECC) is often complicated by inappropriate feeding practices and heavy infection with mutans streptococci. Such children should be targeted with a professional ...

  16. Endobronchial tumours in childhood

    International Nuclear Information System (INIS)

    Endobronchial tumours are rare in childhood and are not often considered in the differential diagnosis of persistent pneumonitis and atelectasis. We present the clinical and radiological features of seven cases of childhood bronchial 'adenoma' seen at our hospital over a 16-year period. Because they are relatively slow growing, prompt diagnosis and early surgical treatment offer the best chance of cure in these patients. A review of the literature is given

  17. Abdominal MRI in childhood

    International Nuclear Information System (INIS)

    MRI provides diagnostic information in multiple abdominal diseases in childhood. Additional information to sonographic findings can be achieved in the diagnosis of abdominal malformation as well as in several inflammatory processes. In childhood cancer imaging MRI is essential at the beginning as well as during therapy to assess response to therapy. Because of radiation protection MRI has to replace CT in abdominal imaging in children. Some technical details have to be considered when children are examined. (orig.)

  18. Meningeal hemangiopericytoma in childhood

    International Nuclear Information System (INIS)

    Meningeal hemangiopericytoma (MHP) is extremely rare in childhood. Mean age at diagnosis is between 38 and 43 years. We present an 8-year-old boy with MHP of the middle cranial fossa. Imaging findings were indistinguishable from an aggressive bone tumor such as Ewing's sarcoma. Imaging findings are presented and discussed. Our case indicates that MHP should be considered in the differential diagnosis of skull-base tumors despite the fact that MHP is extremely rare in childhood. (orig.)

  19. Endobronchial tumours in childhood

    International Nuclear Information System (INIS)

    Endobronchial tumours are rare in childhood and are not often considered in the differential diagnosis of persistent pneumonitis and atelectasis. We present the clinical and radiological features of seven cases of childhood bronchial 'adenoma' seen at our hospital over a 16-year period. Because they are relatively slow growing, prompt diagnosis and early surgical treatment offer the best chance of cure in these patients. A review of the literature is given. (Copyright (c) Elsevier Science B.V., Amsterdam. All rights reserved.)

  20. Fractures in childhood

    International Nuclear Information System (INIS)

    Clinical diagnosis of fractures in childhood can be very difficult. Therefore imaging, not only x-rays but also ultrasound, computed tomography and magnetic resonance imaging are of special importance. There are typical pediatric types of fractures due to epiphyseal plates and high flexibility of the bone. Fractures heal faster and dislocations can be spontaneously corrected better but also growth disturbance can occur. The second part of the article describes the special types of fractures with special attention to the characteristics in childhood.

  1. Stress and childhood epilepsy

    OpenAIRE

    Campen, J.S. van

    2015-01-01

    Epilepsy is one of the most common chronic diseases in childhood, characterized by the enduring predisposition to generate epileptic seizures. Children with epilepsy and their parents often report seizures precipitated by stress. In order to increase our understanding of the pathophysiological mechanisms underlying the effects of stress on seizures in childhood epilepsy, we performed a variety of studies, which are described in this thesis. In part I we evaluate the extent of stress sensitivi...

  2. Early childhood aggression

    OpenAIRE

    Alink, Lenneke Rosalie Agnes

    2006-01-01

    In this thesis the development, stability, and correlates of early childhood aggression were investigated. The normative development was examined in a general population sample using questionnaires completed by the parents of 12-, 24-, and 36-month-old children and again one year later. Results showed an early childhood aggression curve, with increasing rates of aggression in the second year of life and decreasing rates in the fourth year. One-year stabilities were moderate for 12-month-olds ...

  3. Pesticides and childhood cancers.

    OpenAIRE

    Daniels, J L; Olshan, A.F.; Savitz, D A

    1997-01-01

    To evaluate the possible association between pesticides and the risk of childhood cancers, epidemiologic studies published between 1970 and 1996 were critically reviewed. Thirty-one studies investigated whether occupational or residential exposure to pesticides by either parents or children was related to increased risk of childhood cancer. In general, the reported relative risk estimates were modest. Risk estimates appeared to be stronger when pesticide exposure was measured in more detail. ...

  4. Childhood Ovarian Malignancy

    OpenAIRE

    Mahadik, Kalpana; Ghorpade, Kanchanmala

    2014-01-01

    Objective of this article is to appraise diagnostic aspects and treatment modalities in childhood ovarian tumor in background of available evidence. Literature search on Pubmed revealed various aspects of epidemiology, histopathological diagnosis, and treatment of pediatric ovarian tumor. 85 % of childhood tumors are germ cell tumors. The varied histopathological picture in germ cell tumors poses a diagnostic and therapeutic challenge. Immunohistochemistry and newer genetic markers like SALL4...

  5. Asperger syndrome related suicidal behavior: two case studies

    Directory of Open Access Journals (Sweden)

    Kocourkova J

    2013-11-01

    Full Text Available Jana Kocourkova, Iva Dudova, Jiri Koutek Department of Child Psychiatry, Charles University Second Faculty of Medicine, University Hospital Motol, Prague, Czech Republic Abstract: Asperger syndrome hinders adaptation to developmental challenges during childhood and adolescence, particularly with regard to interpersonal relationships. Individuals with Asperger syndrome display lack of empathy and limited ability to understand social and emotional exchanges with other people. Individuals with Asperger syndrome are significantly exposed to the risk of suicidal behavior, especially during adolescence. The authors describe cases of suicidal behavior in two adolescent boys with Asperger syndrome. Keywords: Asperger syndrome, suicidal behavior, adolescence

  6. Seizures and Epilepsy in Sotos Syndrome

    OpenAIRE

    J Gordon Millichap

    2012-01-01

    Clinicians from the Child Neurology Division, Sapienza University of Rome, and 7 other pediatric neurology centers in Italy report a series of 19 Sotos syndrome (SS) patients with febrile seizures (FS) and/or epilepsy during childhood and a long-term follow-up.

  7. Tourette Syndrome: Information for School Nurses

    Science.gov (United States)

    Golder, Tracy

    2010-01-01

    Tourette syndrome (TS) is a neurobehavioral disorder that consists of simple and complex tics. This disorder can significantly affect a child's self-esteem and academic success. Although some believe that only adults are affected, this disorder occurs most frequently in early childhood and symptoms decrease with age. Diagnosis of this disorder can…

  8. Williams-Beuren's Syndrome: A Case Report

    Science.gov (United States)

    Zamani, Hassan; Babazadeh, Kazem; Fattahi, Saeid; Mokhtari-Esbuie, Farzad

    2012-01-01

    Williams-Beuren syndrome is a rare familial multisystem disorder occurring in 1 per 20,000 live births. It is characterized by congenital heart defects (CHD), skeletal and renal anomalies, cognitive disorder, social personality disorder and dysmorphic facies. We present a case of Williams syndrome that presented to us with heart murmur and cognitive problem. A 5-year-old girl referred to pediatric cardiologist because of heart murmurs. She had a systolic murmur (2-3/6) in right upper sternal border with radiation to right cervical region. She also had a bulge forehead. Angiography showed mild supra valvular aortic stenosis and mild multiple peripheral pulmonary stenosis. Fluorescent in situ hybridization (FISH) was performed and the result was: 46.XX, ish del (7q11.2) (ELN X1) (7q22 X2) ELN deletion compatible with Williams syndrome. Peripheral pulmonary artery stenosis is associated with Noonan syndrome, Alagille syndrome, Cutis laxa, Ehler-Danlos syndrome, and Silver-Russel syndrome. The patient had peripheral pulmonary artery stenosis, but no other signs of these syndromes were present, and also she had a supravalvular aortic stenosis which was not seen in other syndromes except Williams syndrome. Conclusion. According to primary symptoms, paraclinical and clinical finding such as dysmorphic facies, cognitive disorder and congenital heart defect, Williams syndrome was the first diagnosis. We suggest a more attention for evaluating heart murmur in childhood period, especially when the patient has abnormal facial features or mental problem. PMID:22927862

  9. Lifestyle Factors and Migraine in Childhood.

    Science.gov (United States)

    Russo, Antonio; Bruno, Antonio; Trojsi, Francesca; Tessitore, Alessandro; Tedeschi, Gioacchino

    2016-02-01

    Migraine is one of the most common pain symptoms in children. Indeed, a high percentage of adult migraine patients report to have suffered from recurrent headache during the childhood. In particular, children could experience the so-called childhood periodic syndromes (such as cyclic vomiting, abdominal migraine, and benign paroxysmal vertigo) that have been usually considered precursors of migraine or they could develop overt migraine headaches. However, typical cohort of migraine symptoms could be absent and children could not achieve all clinical features necessary for a migraine attack diagnosis according to classification criteria. Nevertheless, migraine is characterized also in childhood by a significant negative impact on the quality of life and a high risk of developing chronic and persistent headache in adulthood. Several studies have emphasized the role of different risk factors for migraine in children. Among these, obesity and overweight, particular food or the regular consumption of alcohol or caffeine, dysfunctional family situation, low level of physical activity, physical or emotional abuse, bullying by peers, unfair treatment in school, and insufficient leisure time seem to be strictly related to migraine onset or progression. Consequently, both identification and avoidance of triggers seem to be mandatory in children with migraine and could represent an alternative approach to the treatment of migraine abstaining from pharmacologic therapies. PMID:26757711

  10. Childhood obesity: Determinants, evaluation, and prevention.

    Science.gov (United States)

    Raychaudhuri, Moutusi; Sanyal, Debmalya

    2012-12-01

    Childhood obesity is a grave issue, which needs to be addressed urgently because it leads to several medical and psychosocial problems in children. High prevalence is being increasingly reported in children from developing countries as well. The combination of our genetic propensity to store fat, the ready availability of calorie dense foods, and sedentary lifestyle promotes overweight. The child's food environment at home and parental obesity are strong determinants. Urban poor in developed countries and urban rich in developing countries are both at risk. In developing countries, a number of beliefs passed down over generations are other important determinants. Evaluation includes assessing the child's lifestyle, excluding weight-promoting medication history; poor linear growth needs endocrine evaluation; genetic syndromes should be considered if there are clinical pointers. Overweight children should be evaluated for hypertension, dyslipidemia, T2DM, and NAFLD. Therapeutic lifestyle changes targeting food habits and physical activity through parental participation and social support are the cornerstones of preventing childhood obesity. Active travel and play by making the built environment more accessible, ban on 'junk' food advertising, and effective health education through active participation of clinicians, school systems, and the media will go a long way in reversing anticipated trends in childhood obesity. PMID:23565376

  11. Childhood obesity: Determinants, evaluation, and prevention

    Directory of Open Access Journals (Sweden)

    Moutusi Raychaudhuri

    2012-01-01

    Full Text Available Childhood obesity is a grave issue, which needs to be addressed urgently because it leads to several medical and psychosocial problems in children. High prevalence is being increasingly reported in children from developing countries as well. The combination of our genetic propensity to store fat, the ready availability of calorie dense foods, and sedentary lifestyle promotes overweight. The child′s food environment at home and parental obesity are strong determinants. Urban poor in developed countries and urban rich in developing countries are both at risk. In developing countries, a number of beliefs passed down over generations are other important determinants. Evaluation includes assessing the child′s lifestyle, excluding weight-promoting medication history; poor linear growth needs endocrine evaluation; genetic syndromes should be considered if there are clinical pointers. Overweight children should be evaluated for hypertension, dyslipidemia, T2DM, and NAFLD. Therapeutic lifestyle changes targeting food habits and physical activity through parental participation and social support are the cornerstones of preventing childhood obesity. Active travel and play by making the built environment more accessible, ban on ′junk′ food advertising, and effective health education through active participation of clinicians, school systems, and the media will go a long way in reversing anticipated trends in childhood obesity.

  12. ALSTROM SYNDROME: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Shivakumar

    2015-11-01

    Full Text Available Alstrom Syndrome was first described by Carl Henry Alstrom in 1959. The key features include childhood onset obesity, congenital retinal dystrophy leading to blindness, sensori-neural deafness. The associated endocrinologic aspects are early onset type 2 Diabetes Mellitus, hyperinsulinemia, hypertriglyceridemia. Mutations in the ALMS1 gene have been found to be causative for AS.The normal protein is present at very low levels in most tissues. The mutation results in a non-functional protein, explaining the various signs and symptoms of Alstrom’s. Here we report on a case with Alstrom Syndrome at the age of 28 years. She came with the complaints of generalised swelling of the body, breathlessness, decreased urine output with a significant past history of visual and hearing impairment, diabetes, hypertension, and recurrent urinary tract infections. Awareness of Alstrom Syndrome is lacking despite the complexity and lethality of this disorder. Thus Alstrom Syndrome can be thought of as a rare genetic disorder with several feature similar to metabolic syndrome. It is a rare disease and difficult to make differential diagnosis with other similar syndromes, therefore this case will be a good example of Alstrom Syndrome for the literature.

  13. Abdominal migraine in childhood: a review

    Directory of Open Access Journals (Sweden)

    Scicchitano B

    2014-08-01

    Full Text Available Beatrice Scicchitano,1 Gareth Humphreys,1 Sally G Mitton,2 Thiagarajan Jaiganesh1 1Children's Emergency Department, 2Department of Paediatric Gastroenterology, St Georges Hospital, St Georges Healthcare NHS Trust, Tooting, London, United Kingdom Abstract: The childhood condition of abdominal migraine has been described under many different synonyms, including "abdominal epilepsy", "recurrent abdominal pain", "cyclical vomiting syndrome", and "functional gastrointestinal disorder". In the early literature, abdominal migraine is included in the "childhood periodic syndrome", first described by Wyllie and Schlesinger in 1933. Abdominal migraine has emerged over the last century as a diagnostic entity in its own right thanks to the development of well defined diagnostic criteria and its recent inclusion in the International Headache Society's Classification of Headache disorders. Despite this progress, little is known about the pathophysiology of the condition, and the treatment options are poorly defined. Here we summarize the recent literature, with particular focus on establishing the diagnosis of abdominal migraine and its pathophysiology, and suggest an approach to management. Keywords: abdominal migraine, recurrent abdominal pain, abdominal epilepsy, cyclical vomiting

  14. Influences of Childhood Experiences on Early Childhood Education Students

    OpenAIRE

    Strekalova-Hughes, Ekaterina; Maarouf, Saoussan; Keskin, Burhanettin

    2015-01-01

    This qualitative study examined whether or not childhood experiences of the early childhood education students affected their present personal beliefs and pedagogies. A digital survey was filled out by 58 students majoring in Early Childhood Education program. The participants were asked to identify and reflect on their impactful early experiences. The follow-up interviews with two participants were conducted to deepen the reflections on childhood experiences and explore their effects on the ...

  15. Cholecystitis in a child with acquired immunodeficiency syndrome: ultrasonographic findings in a case of uncommon presentation during childhood; Colecistitis en un nino con sida: hallazgos ecograficos en una forma infrecuente de presentacion en la infancia

    Energy Technology Data Exchange (ETDEWEB)

    Rubi-Palomares, I.; Martinez-Leon, M. I.; Alonso-Usabiaga, I.; Ceres-Ruiz, L. [Hospital Materno Infantil del C.H.U. Carlos Haya. Malaga (Spain)

    2001-07-01

    We present the case of a boy with acquired immunodeficiency syndrome (AIDS) in whom ultrasound revealed the presence of acalculous cholecystitis. Abdominal ultrasound was essential in the initial diagnosis and the assessment of the response to treatment. This entity has rarely been reported in the pediatric radiology literature. In our patient, the cholecystitis may have been caused by infection, and the involvement of regional lymphatic obstruction in the pathogenesis is considered. (Author) 14 refs.

  16. Childhood Eye Diseases and Conditions

    Science.gov (United States)

    ... Things College Students Should Do For Their Eyes Childhood Eye Diseases and Conditions Nov. 01, 2013 The ... cataract or eye disorder that needs treatment. Common Childhood Eye Diseases & Conditions When the following diseases are ...

  17. General Information about Childhood Ependymoma

    Science.gov (United States)

    ... without radiation therapy . Childhood ependymoma, anaplastic ependymoma, or RELA fusion–positive ependymoma Treatment of newly diagnosed childhood ... Grade II), anaplastic ependymoma (WHO Grade III), or RELA fusion–positive ependymoma is: Surgery . After surgery, the ...

  18. Treatment Option Overview (Childhood Ependymoma)

    Science.gov (United States)

    ... without radiation therapy . Childhood ependymoma, anaplastic ependymoma, or RELA fusion–positive ependymoma Treatment of newly diagnosed childhood ... Grade II), anaplastic ependymoma (WHO Grade III), or RELA fusion–positive ependymoma is: Surgery . After surgery, the ...

  19. The effect of milk and milk proteins on risk factors of metabolic syndrome in overweight adolecents

    DEFF Research Database (Denmark)

    Arnberg, Karina

    of type-2 diabetes and atherosclerotic cardiovascular diseases. Overweight children have higher concentrations of the metabolic syndrome risk factors than normal weight children and the pathological condition underlying cardiovascular diseases, called atherosclerosis, seems to start in childhood. A...

  20. Psychiatric Aspects of Childhood Epilepsy

    Directory of Open Access Journals (Sweden)

    Raman Deep PATTANAYAK

    2012-06-01

    -related, cognitive, and linguistic variables. Epilepsia 2005;45:273-81.7. International League Against Epilepsy- Epidemiology commission. Available from: URL: http://www.ilaeepilepsy.org/. Accessed September 1, 2011.8. Eriksson KJ, Koivikko MJ. Prevalence, classification and severity of epilepsy and epileptic syndromes in children. Epilepsia 1997;38:1275-82.9. Sillanpaa M, Jalava M, Kaleva O, Shinnar S. Long-term prognosis of seizures with onset in childhood. N Engl J Med 1998;338(24:1715-22.10. Berg AT, Shinnar S, Levy SR Testa FM, Smith-Rapaport S, Beckerman B. Early development of intractable epilepsy in children: a prospective study. Neurology 2001;56:1445-52.11. Rutter M, Graham P, Yule W. A neuropsychiatric study in childhood. Clinics in developmental medicine no 35/36.Philadelphia: JB Lippincott; 1970.P.175-85.12. Solomon, GE, Pfeffer C. Neurobehavioral abnormalities in epilepsy. In: Frank Y, editor. Pediatric behavioral epilepsy: New York: CRC press; 1996. P. 269-87.13. Farwell JR, Dodrill CB, Batzel LW. Neuropsychological abilities of children with epilepsy. Epilepsia 1985;26:395-400.14. Nolan MA, Redoblado MA, Lah S, Sabaz M, Lawson JA, Cunningham AM, et al. Intelligence in childhood epilepsy syndromes. Epilepsy Res 2003;53:139-50.15. Berg AT, Langfitt JT, Testa FM, Levy SR, DiMario F, Westerveld M, et al. Residual cognitive effects of uncomplicated idiopathic and cryptogenic epilepsy. Epilepsy Behav 2008;13:614-9.16. van Mil SG, Reijs RP, van Hall MH, Aldenkamp AP. Neuropsychological profile of children with cryptogenic localization related epilepsy. Child Neuropsychol 2008;14:291-302.17.Williams J, Griebel ML, Dykman RA. Neuropsychological patterns in pediatric epilepsy. Seizure 1998;7:223-8.18. Goodman R. Brain disorders. In: Rutter M, Taylor EA, editors. Child and adolescent psychiatry, 4th edition. Oxford: Blackwell Scientific Publications; 2002. P. 241-60.19. Elger CE, Helmstaedter C, Kurthen M. Chronic epilepsy and cognition. Lancet Neurol

  1. Childhood Absence Epilepsy Successfully Treated with the Paleolithic Ketogenic Diet

    OpenAIRE

    Clemens, Zsófia; Kelemen, Anna; Fogarasi, András; Tóth, Csaba

    2013-01-01

    Introduction Childhood absence epilepsy is an epilepsy syndrome responding relatively well to the ketogenic diet with one-third of patients becoming seizure-free. Less restrictive variants of the classical ketogenic diet, however, have been shown to confer similar benefits. Beneficial effects of high fat, low-carbohydrate diets are often explained in evolutionary terms. However, the paleolithic diet itself which advocates a return to the human evolutionary diet has not yet been studied in epi...

  2. Childhood trauma in bipolar disorder

    OpenAIRE

    Watson, S; Gallagher, P.; Dougall, D.; R Porter; Moncrieff, J.; Ferrier, I. N.; Young, A. H.

    2014-01-01

    Objective: There has been little investigation of early trauma in bipolar disorder despite evidence that stress impacts on the course of this illness. We aimed to compare the rates of childhood trauma in adults with bipolar disorder to a healthy control group, and to investigate the impact of childhood trauma on the clinical course of bipolar disorder. Methods: Retrospective assessment of childhood trauma was conducted using the Childhood Trauma Questionnaire (CTQ) in 60 outpatients with bipo...

  3. Cyclophosphamide and Busulfan Followed by Donor Stem Cell Transplant in Treating Patients With Myelofibrosis, Acute Myeloid Leukemia, or Myelodysplastic Syndrome

    Science.gov (United States)

    2014-04-03

    Adult Acute Myeloid Leukemia in Remission; Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities; Adult Acute Myeloid Leukemia With Del(5q); Adult Acute Myeloid Leukemia With Inv(16)(p13;q22); Adult Acute Myeloid Leukemia With t(15;17)(q22;q12); Adult Acute Myeloid Leukemia With t(16;16)(p13;q22); Adult Acute Myeloid Leukemia With t(8;21)(q22;q22); Childhood Acute Myeloid Leukemia in Remission; Childhood Myelodysplastic Syndromes; de Novo Myelodysplastic Syndromes; Essential Thrombocythemia; Myelodysplastic Syndrome With Isolated Del(5q); Polycythemia Vera; Previously Treated Myelodysplastic Syndromes; Primary Myelofibrosis; Recurrent Adult Acute Myeloid Leukemia; Recurrent Childhood Acute Myeloid Leukemia; Secondary Acute Myeloid Leukemia; Secondary Myelodysplastic Syndromes; Secondary Myelofibrosis; Untreated Adult Acute Myeloid Leukemia; Untreated Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies

  4. Reconceptualizing the "Nature" of Childhood

    Science.gov (United States)

    Taylor, Affrica

    2011-01-01

    This interdisciplinary article draws upon human geography to bring fresh new perspectives to the relationship between two commonly conflated concepts: "childhood" and "nature". Childhood studies scholars have gone a long way towards retheorizing childhood beyond the "natural" and the "universal" by pointing to its historical and cultural…

  5. Discovering the Culture of Childhood

    Science.gov (United States)

    Plank, Emily

    2016-01-01

    We often filter our interactions with children through the lens of adulthood. View the culture of childhood through a whole new lens. Identify age-based bias and expand your outlook on and understanding of early childhood as a culture. Examine various elements of childhood culture: language, the power of believing, artistic expressions, and social…

  6. Birthweight and Childhood Cancer

    DEFF Research Database (Denmark)

    Paltiel, Ora; Tikellis, Gabriella; Linet, Martha; Golding, Jean; Lemeshow, Stanley; Phillips, Gary; Lamb, Karen; Stoltenberg, Camilla; Håberg, Siri E; Strøm, Marin; Granstrøm, Charlotta; Northstone, Kate; Klebanoff, Mark; Ponsonby, Anne-Louise; Milne, Elizabeth; Pedersen, Marie; Kogevinas, Manolis; Ha, Eunhee; Dwyer, Terence

    2015-01-01

    BACKGROUND: Evidence relating childhood cancer to high birthweight is derived primarily from registry and case-control studies. We aimed to investigate this association, exploring the potential modifying roles of age at diagnosis and maternal anthropometrics, using prospectively collected data from...... the International Childhood Cancer Cohort Consortium. METHODS: We pooled data on infant and parental characteristics and cancer incidence from six geographically and temporally diverse member cohorts [the Avon Longitudinal Study of Parents and Children (UK), the Collaborative Perinatal Project (USA......). Childhood cancer (377 cases diagnosed prior to age 15 years) risk was analysed by type (all sites, leukaemia, acute lymphoblastic leukaemia, and non-leukaemia) and age at diagnosis. We estimated hazard ratios (HR) and 95% confidence intervals (CI) from Cox proportional hazards models stratified by cohort...

  7. Child Abuse and Dissociation in Patients with Complex Regional Pain Syndrome

    OpenAIRE

    Michael Williams; John Read; Robert Large

    1999-01-01

    >OBJECTIVE: In the absence of a proven medical explanation for the chronic pain syndrome Complex Regional Pain Syndrome type I (CRPS I), this study explored a hypothetical link between childhood physical and sexual abuse, and the subsequent development of CRPS I. The hypothesis predicts the existence of a subpopulation of CRPS I patients with a high frequency of dissociative experiences corresponding to a history of childhood trauma.DESIGN: To test this theory, CRPS I patients attending the A...

  8. Photoanthropometric Study of Dysmorphic Features of the Face in Children with Autism and Asperger Syndrome

    OpenAIRE

    Katarzyna Ziora; Agnieszka Kapinos- Gorczyca; Piotr Gorczyca; Joanna Oświęcimska

    2012-01-01

    Objective: Childhood autism is a neurodevelopmental disorder characterized by impairments in social interactions, verbal and non-verbal communication and by a pattern of stereotypical behaviors and interests. The aim of this study was to estimate the dysmorphic facial features of children with autism and children with Asperger syndrome . Methods: The examination was conducted on 60 children (30 with childhood autism and 30 with Asperger syndrome). The photo anthropometric method used in this ...

  9. Congenital Leukemia in Down's syndrome

    International Nuclear Information System (INIS)

    Congenital Leukemia is a condition and often associated with fatal outcome/sup 1/. Most of the neonatal cases reported have acute non-lymphoblastic leukemia, in contrast to the predominance of acute lymphoblastic leukemia found in later childhood. congenital leukemia is occasionally associated with number of congenital anomalies and with chromosomal disorders such as Down's syndrome. Subtle cytogenetic abnormalities may occur more commonly in the affected infants and their parents, when studied with newer cytogenetic techniques/sup 2/. Inherent unstable hematopoieses resulting from chromosomal aberration in children with Downs's syndrome can present with transient myeloproliferative disorder, mimicking leukemia which undergoes spontaneous recovery/sup 3/. Only few cases of congenital leukemia with Downs syndrome, presented as congenital leukemia. (author)

  10. Children with Usher syndrome: mental and behavioral disorders

    Directory of Open Access Journals (Sweden)

    Dammeyer Jesper

    2012-03-01

    Full Text Available Abstract Background Mental and behavioral disorders among adults with Usher syndrome have been discussed and reported in some case studies but no research has been reported on children with Usher syndrome. Methods This article investigates the prevalence and characteristics of mental and behavioral disorders among 26 children, 3-17 years of age, with Usher syndrome. Results Six of the 26 children were diagnosed with a mental or behavioral disorder (1 with schizophrenia and mild mental retardation, 1 with atypical autism and severe mental retardation, 1 with atypical autism and mild mental retardation, 1 with mild mental retardation, and 2 with conduct disorder. Another 3 children had had a mental or behavioral disorder previously in their childhood. Conclusion Even though vision impairment first manifests in late childhood, some children with Usher syndrome seem to develop mental and behavioral disorders during childhood. The aetiology and treatment of mental and behavioral disorders among children with Usher syndrome are discussed. Children with Usher syndrome and their parents may need clinical support during early childhood to prevent development of mental and behavioral disorders.

  11. A Tewo Tibetan Childhood

    Directory of Open Access Journals (Sweden)

    Rdo rje tshe brtan

    2013-04-01

    Full Text Available Rdo rje tshe brtan (b. 1986 describes his childhood in Dredze Village, Yiwa Township, Tewo County, Gannan Tibetan Autonomous Prefecture, Gansu Province, China, as well as being a student in Xining City, Qinghai Province. Topics covered include his family, childhood injuries and illnesses, education, Terang (malicious household deities, mountain deities and associated rituals and sacrifices, death, conflict with other locals, collecting local plants, a birth in the village, stealing fruit, a wedding, plowing, a visit to a hot spring, a lost yak, slaughtering pigs, government confiscation of fields, and slaughtering pigs. Photos provide additional detail.

  12. Sturge-Weber syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Luiz Felipe G. dos Santos

    2011-10-01

    Full Text Available Introduction: The Sturge-Weber Syndrome, also known as encephalotrigeminal angiomatosis, is a rare vascular neurocutaneous alteration. The main clinical features of this syndrome are facial vascular cutaneous naevus, usually unilateral, which often follows the outline distribution of trigeminal nerve. Objective: To report a clinical case of Sturge-Weber Syndrome in a 29-yeral-old male patient who presented oral manifestations related to the syndrome. Case report and conclusion: The patient reported that he had presented a cutaneous vascular nevus on the face during childhood as well as epileptic crisis episodes. However, he had no ophthalmic alterations. Sturge-Weber syndrome is a systemic condition commonly affecting oral cavity through vascular lesions, therefore, dentists’ knowledge is extremely important to provide an adequate dental treatment without complications.

  13. Atopic endotype in childhood

    DEFF Research Database (Denmark)

    Schoos, Ann-Marie Malby; Chawes, Bo Lund Krogsgaard; Rasmussen, Morten Arendt;

    2016-01-01

    with asthma through early childhood (0-6 years) when analyzed as any sensitization (odds ratio [OR] range, 0.78-1.29; P ≥ .48). However, at 13 years of age, any sensitization was associated with asthma (OR range, 4.02-5.94; all P contrast, any sensitization was associated with eczema at ½, 1...

  14. Malignant tumors of childhood

    International Nuclear Information System (INIS)

    This book contains 34 papers about malignant tumors. some of the titles are: Invasive Cogenital Mesoblastic Nephroma, Leukemia Update, Unusual Perinatal Neoplasms, Lymphoma Update, Gonadal Germ Cell Tumors in Children, Nutritional Status and Cancer of Childhood, and Chemotherapy of Brain tumors in Children

  15. Childhood Acute Lymphoblastic Leukemia

    DEFF Research Database (Denmark)

    Pui, Ching-Hon; Yang, Jun J; Hunger, Stephen P;

    2015-01-01

    PURPOSE: To review the impact of collaborative studies on advances in the biology and treatment of acute lymphoblastic leukemia (ALL) in children and adolescents. METHODS: A review of English literature on childhood ALL focusing on collaborative studies was performed. The resulting article was...

  16. Managing childhood obesity

    Science.gov (United States)

    The prevalence of childhood obesity has steadily increased over the last decades, with approximately 35% of children aged 6-19 classified as overweight or obese. Recently, a plateau in the increasing rates of obesity has been observed. Despite this leveling off, overweight and obese children are hea...

  17. Dietary Patterns in Childhood

    DEFF Research Database (Denmark)

    Andersen, Louise Beltoft Borup

    childhood. These associations might contribute to the identification of families, who would benefit from guidance to help them establish healthy dietary patterns for their infants. Finding tracking for some infants and changes in adherence to dietary patterns for others as well as the association between...

  18. Childhood environment and obesity

    Science.gov (United States)

    US children are at risk for developing childhood obesity. Currently, 23% of children ages 2–5 are overweight or obese, i.e., at or above the 85th percentile. This prevalence becomes even higher as children age, with 34% of children ages 6–11 being overweight or obese. Ethnic minority children are at...

  19. Childhood Obesity: An Overview

    Science.gov (United States)

    Reilly, John J.

    2007-01-01

    This article reviews recent research evidence, largely from systematic reviews, on a number of aspects of childhood obesity: its definition and prevalence; consequences; causes and prevention. The basis of the body mass index (BMI) as a means of defining obesity in children and adolescents is discussed: a high BMI for age constitutes obesity. In…

  20. Early childhood aggression

    NARCIS (Netherlands)

    Alink, Lenneke Rosalie Agnes

    2006-01-01

    In this thesis the development, stability, and correlates of early childhood aggression were investigated. The normative development was examined in a general population sample using questionnaires completed by the parents of 12-, 24-, and 36-month-old children and again one year later. Results show

  1. Childhood disintegrative disorder

    DEFF Research Database (Denmark)

    Mouridsen, Svend Erik

    2003-01-01

    sometimes associated with this disorder, but contrary to earlier belief this is not typical. Interest in childhood disintegrative disorder has increased markedly in recent years and in this review attention is given to more recently published cases based on ICD-9, ICD-10 and DSM-IV diagnostic systems...

  2. Conscientiousness: Origins in Childhood?

    Science.gov (United States)

    Eisenberg, Nancy; Duckworth, Angela L.; Spinrad, Tracy L.; Valiente, Carlos

    2014-01-01

    In this review, we evaluate developmental and personality research with the aim of determining whether the personality trait of conscientiousness can be identified in children and adolescents. After concluding that conscientiousness does emerge in childhood, we discuss the developmental origins of conscientiousness with a specific focus on…

  3. Early Childhood Development.

    Science.gov (United States)

    Koh, Edgar, Ed.

    1989-01-01

    Focused on early childhood development, this "UNICEF Intercom" asserts that developmental programs should aim to give children a fair chance at growth beyond survival. First presented are moral, scientific, social equity, economic, population, and programatic arguments for looking beyond the fundamental objective of saving young lives.…

  4. Childhood disintegrative disorder

    Directory of Open Access Journals (Sweden)

    Sri Hari Charan

    2012-01-01

    Full Text Available We are presenting a case of a 10-year-old female child who presented with normal development till 5 years of age followed by deterioration in previously acquired language and social skills with stereotypic hand movements suggestive of childhood disintegrative disorder. This case is reported as this condition is very rare.

  5. Early Childhood Trauma

    Science.gov (United States)

    National Child Traumatic Stress Network, 2010

    2010-01-01

    Early childhood trauma generally refers to the traumatic experiences that occur to children aged 0-6. Because infants' and young children's reactions may be different from older children's, and because they may not be able to verbalize their reactions to threatening or dangerous events, many people assume that young age protects children from the…

  6. Tanzania : Early Childhood Development

    OpenAIRE

    World Bank

    2012-01-01

    This report presents an analysis of the Early Childhood Development (ECD) programs and policies that affect young children in Tanzania. This report is part of a series of reports prepared by the World Bank using the Systems Approach for Better Education Results (SABER)-ECD framework and includes analysis of early learning, health, nutrition and social and child protection policies and inte...

  7. Uganda : Early Childhood Development

    OpenAIRE

    World Bank

    2012-01-01

    This report presents an analysis of the Early Childhood Development (ECD) programs and policies that affect young children in Uganda and recommendations to move forward. This report is part of a series of reports prepared by the World Bank using the Systems Approach for Better Education Results (SABER)-ECD framework1 and includes analysis of early learning, health, nutrition and social and ...

  8. Childhood microbial keratitis

    Directory of Open Access Journals (Sweden)

    Abdullah G Al Otaibi

    2012-01-01

    Conclusion: Children with suspected microbial keratitis require comprehensive evaluation and management. Early recognition, identifying the predisposing factors and etiological microbial organisms, and instituting appropriate treatment measures have a crucial role in outcome. Ocular trauma was the leading cause of childhood microbial keratitis in our study.

  9. Survivors of childhood cancer.

    Science.gov (United States)

    Bradwell, Moira

    2009-05-01

    Treatment of childhood cancer aims to cure with minimum risk to the patient's subsequent health. Monitoring the long-term effects of treatment on children and young adults is now an essential part of the continued care of survivors. Late effects include: impact on growth, development and intellectual function; organ system impairment; the development of second malignancies; and psychosocial problems. These can adversely affect long-term survival and the quality of life. In the UK, models of long-term follow up for survivors of childhood cancer vary from centre to centre but nurses have a significant role to play. Combining the nurse specialist role with that of the advanced practitioner ensures that the goals of improving the quality of nursing care to the survivors of childhood cancer are achieved and maximises the nursing contribution to their follow up. With the number of childhood cancer survivors increasing, providing holistic, health promotional care, tailored to the specific needs of survivors will be crucial for their future. PMID:19505060

  10. The Impact of Childhood Adversity on the Clinical Features of Schizophrenia

    Directory of Open Access Journals (Sweden)

    Ravi Philip Rajkumar

    2015-01-01

    Full Text Available Introduction. Recent research has drawn attention to the link between childhood maltreatment and schizophrenia. Child abuse and neglect may have an impact on symptoms and physical health in these patients. This association has not been studied to date in India. Materials and Methods. Clinically stable patients with schizophrenia (n=62 were assessed for childhood adversity using the Childhood Trauma Questionnaire. The association of specific forms of adversity with symptomatology and associated variables was examined. Results. Emotional abuse was reported by 56.5% patients and physical abuse by 33.9%; scores for childhood neglect were also high. Persecutory delusions were linked to physical abuse, while anxiety was linked to emotional neglect and depression to emotional abuse and childhood neglect. Physical abuse was linked to elevated systolic blood pressure, while emotional abuse and neglect in women were linked to being overweight. Conclusions. Childhood adversity is common in schizophrenia and appears to be associated with a specific symptom profile. Certain components of the metabolic syndrome also appear to be related to childhood adversity. These results are subject to certain limitations as they are derived from remitted patients, and no control group was used for measures of childhood adversity.

  11. Surgery for Tourette syndrome.

    Science.gov (United States)

    Ackermans, Linda; Kuhn, Jens; Neuner, Irene; Temel, Yasin; Visser-Vandewalle, Veerle

    2013-01-01

    Tourette syndrome is a chronic neuropsychiatric disorder characterized by motor and vocal tics. In the majority of cases, tics are associated by behavioral disorders such as obsessive-compulsive behavior. First symptoms typically appear in early childhood. Mostly symptoms disappear when adulthood is reached. Treatment options consist of behavioral therapy and medication. In refractory cases, surgery may be an option. In the past, several attempts have been made to treat therapy-refractory patients through neurosurgical ablative procedures. In 1999, deep brain stimulation was introduced as a novel treatment option for patients with intractable Tourette syndrome. Up until now, five brain areas have been used or suggested as potential target areas for deep brain stimulation in Tourette syndrome. In the majority of the published cases, there is a clear effect on tics but most studies consist of only a limited number of patients. A strict patient selection is absolutely mandatory. There is a need for double-blinded multicenter trials with inclusion of more patients. PMID:22722039

  12. Cushing's Syndrome

    Science.gov (United States)

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

  13. Turner Syndrome

    Science.gov (United States)

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

  14. Metabolic Syndrome

    Science.gov (United States)

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

  15. Asperger syndrome

    Science.gov (United States)

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

  16. Pseudoaminopterin syndrome.

    Science.gov (United States)

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

    2012-09-01

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

  17. Usher Syndrome

    Science.gov (United States)

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

  18. Turner Syndrome

    Science.gov (United States)

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

  19. Proteus Syndrome

    Science.gov (United States)

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

  20. Learning about Marfan Syndrome

    Science.gov (United States)

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

  1. Alagille syndrome.

    OpenAIRE

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

    1997-01-01

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

  2. Cushing Syndrome

    Science.gov (United States)

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

  3. Dumping Syndrome

    Science.gov (United States)

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

  4. Rediscovering Morality through the Concept of Childhood

    Science.gov (United States)

    Burdick-Shepherd, Stephanie

    2013-01-01

    This chapter looks at John Dewey's consideration of childhood as a platform which to view the significance of childhood in moral life. It argues that the concept of childhood is integral to our thinking in the teaching and learning relationship. When we consider childhood from Dewey's platform, we see that childhood is relevant to…

  5. Alagille Syndrome

    Science.gov (United States)

    ... pale, loose stools; and poor growth within the first three months of life. Later, there is persistent jaundice, itching, fatty deposits in the skin, and stunted growth and development during early childhood. The disease often stabilizes between ages four and ...

  6. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

    DEFF Research Database (Denmark)

    Heinzen, Erin L; Swoboda, Kathryn J; Hitomi, Yuki;

    2012-01-01

    Alternating hemiplegia of childhood (AHC) is a rare, severe neurodevelopmental syndrome characterized by recurrent hemiplegic episodes and distinct neurological manifestations. AHC is usually a sporadic disorder and has unknown etiology. We used exome sequencing of seven patients with AHC and the...

  7. Early Childhood Caries

    Directory of Open Access Journals (Sweden)

    Yumiko Kawashita

    2011-01-01

    Full Text Available Dental caries is one of the most common childhood diseases, and people continue to be susceptible to it throughout their lives. Although dental caries can be arrested and potentially even reversed in its early stages, it is often not self-limiting and progresses without proper care until the tooth is destroyed. Early childhood caries (ECC is often complicated by inappropriate feeding practices and heavy infection with mutans streptococci. Such children should be targeted with a professional preventive program that includes oral hygiene instructions for mothers or caregivers, along with fluoride and diet counseling. However, these strategies alone are not sufficient to prevent dental caries in high-risk children; prevention of ECC also requires addressing the socioeconomic factors that face many families in which ECC is endemic. The aim of this paper is to systematically review information about ECC and to describe why many children are suffering from dental caries.

  8. Genetics of Childhood Obesity

    Directory of Open Access Journals (Sweden)

    Jianhua Zhao

    2011-01-01

    Full Text Available Obesity is a major health problem and an immense economic burden on the health care systems both in the United States and the rest of the world. The prevalence of obesity in children and adults in the United States has increased dramatically over the past decade. Besides environmental factors, genetic factors are known to play an important role in the pathogenesis of obesity. Genome-wide association studies (GWAS have revealed strongly associated genomic variants associated with most common disorders; indeed there is general consensus on these findings from generally positive replication outcomes by independent groups. To date, there have been only a few GWAS-related reports for childhood obesity specifically, with studies primarily uncovering loci in the adult setting instead. It is clear that a number of loci previously reported from GWAS analyses of adult BMI and/or obesity also play a role in childhood obesity.

  9. Tibetan Nomad Childhood

    Directory of Open Access Journals (Sweden)

    Karma Dondrub

    2013-09-01

    Full Text Available A Tibetan Nomad Childhood by Kar+ma don 'grub. Kar+ma's life begins on the boundless Tibetan grassland in 1983 in Yushu (Yul shul Tibetan Autonomous Prefecture, Mtsho sgnon (Qinghai Province. Living in a black yak hair tent, Kar+ma begins tending his family's yak calves as soon as he can walk, in a grassland so barren that he is startled upon first seeing a tree at the age of eight. Charlatan livestock-stealing monks, anthrax, death, birth, happiness, and encounters with modern education create a powerful, unparalleled account of Tibetan nomad childhood in the late twentieth century - a way of life that will soon be forever gone.

  10. Brain Development in Childhood

    OpenAIRE

    Taki, Yasuyuki; Kawashima, Ryuta

    2012-01-01

    Although human brain development continues throughout childhood and adolescence, it is a non-linear process both structurally and functionally. Here we review studies of brain development in healthy children from the viewpoint of structure and the perfusion of gray and white matter. Gray matter volume increases and then decreases with age, with the developmental time of the peak volume differing among brain regions in the first and second decades of life. On the other hand, white matter volum...

  11. Epidemiology of childhood cancer

    OpenAIRE

    Terracini Benedetto

    2011-01-01

    Abstract At least in economically developed countries, in the last decades, the incidence of childhood cancer has increased and the increase is unlikely to be an artefact. Causes of the increase have not been identified: a role of preventable environmental exposures is possible. Changes have also occurred in the age distribution of acute lymphoblastic leukaemia. Currently, children with cancer can be successfully treated and cured. However, access to the best therapy differs widely among coun...

  12. Cultivating childhood obesity

    OpenAIRE

    Greene-Martin, DeCleasha

    2013-01-01

    In recent years the levels of obesity in the United States has risen greatly especially amongst children. Doctors, psychologists, and other scientists have been studying the growing problem for years. Implications for childhood obesity not only have enormous physical consequences but emotional repercussions which can affect the child’s academic and social development. A number of factors have been identified as having an effect on these children; family life reveals the grocery store habits o...

  13. Conscientiousness: Origins in Childhood?

    OpenAIRE

    Eisenberg, Nancy; Duckworth, Angela L.; Spinrad, Tracy L.; Valiente, Carlos

    2012-01-01

    In this review, we evaluate developmental and personality research with the aim of determining if the personality trait of conscientiousness can be identified in children and adolescents. After concluding that conscientiousness does emerge in childhood, we discuss the developmental origins of conscientiousness with a specific focus on self-regulation, academic motivation, and internalized compliance/internalization of standards. Based on the accumulated body of evidence, we conclude that self...

  14. Childhood lymphoma in Yorkshire.

    OpenAIRE

    Davison, A. M.; McKinney, P A; Bailey, C C; Lewis, I.; Cartwright, R A; O'Brien, C.

    1992-01-01

    AIMS: A histopathological review of 43 cases of childhood non-Hodgkin's lymphoma (NHL) in an attempt to identify histological variables of prognostic importance. METHOD: Each case was reclassified according to the Working Formulation and an attempt made to allocate an immunophenotype using a panel of monoclonal antibodies. Results were correlated with clinical data on site and survival. RESULTS: Of the 43 cases, 30 were males and 13 females. There were 17 cases of lymphoblastic lymphoma, 15 c...

  15. Peer Bullying During Early Childhood

    OpenAIRE

    Hatice UYSAL; Çağlayan DİNÇER

    2012-01-01

    Peer bullying during early childhood is discussed along with the literature reviewed in this article with the purpose of drawing attention to peer bullying during early childhood and its significance, and contributing to studies which are few in number in Turkey. Peer bullying during early childhood was considered with its definition and types, people who play key roles in peer bullying, factors (gender, age, parents, and friendship) that relate to peer bullying, and what should be done befor...

  16. Stress and Obesity in Childhood

    OpenAIRE

    Koch, Felix-Sebastian

    2009-01-01

    Childhood obesity is a serious health problem and prevalence increases dramatically around the world, including Sweden. The aim of the current thesis was to examine parents’ and children’s stress in relation to childhood obesity. Parenting stress, social support, parental worries, and serious life events, as well as children’s temperament, self-esteem, body dissatisfaction, saliva cortisol, weight and height were measured to estimate stress and the relation between stress and childhood obesit...

  17. Psychiatric Aspects of Childhood Epilepsy

    OpenAIRE

    Pattanayak, Raman Deep; Sagar, Rajesh

    2012-01-01

    How to Cite this Article: Pattanayak RD, Sagar R. Psychiatric Aspects of Childhood Epilepsy. Iran J Child Neurol 2012;6(2):9-18.Childhood epilepsy is a chronic, recurrent disorder of unprovoked seizures. Theonset of epilepsy in childhood has significant implications for brain growth anddevelopment. Seizures may impair the ongoing neurodevelopmental processes and compromise the child’s intellectual and cognitive functioning, leading totremendous cognitive, behavioral and psychosocial consequen...

  18. Investigation of Childhood Abuse Experiences

    OpenAIRE

    AYDIN, Oktay

    2013-01-01

    In this study childhood abuse experiences between 18-25 years old males wasinvestigated according to some variables. The sample consist of 308 male. ChildhoodTrauma Questionnaire was applied to sample group to determine their childhood abuseexperiences. In addition to this, to determine some of demographical characteristics of thesubjects, a questionnaire was used. ANOVA and Pearson Moment Correlation CoefficentTechniques were used on the obtained results.At the and of the research;- People u...

  19. Childhood obesity and prevention approaches

    OpenAIRE

    Dilek Yildiz; Berna Eren Fidanci; Derya Suluhan

    2015-01-01

    Childhood obesity has increased dramatically during the past two decades. The growing incidence of childhood obesity is alarming, given the significant short and long term health problems associated with obesity. Being overweight or obese may increase the rate of non-communicable diseases such as type 2 diabetes and cardiovascular disease in adulthood. It may contribute to shortening life expectancy and adversely affects the quality of life. Therefore, it is important to prevent childhood obe...

  20. T-cell receptor Vbeta CDR3 oligoclonality frequently occurs in childhood refractory cytopenia (MDS-RC) and severe aplastic anemia

    DEFF Research Database (Denmark)

    Vries, A.C. de; Langerak, A.W.; Verhaaf, B.;

    2008-01-01

    (Very) severe acquired aplastic anemia ((v)SAA) and myelodysplastic syndrome (MDS) are rare diseases in childhood. (V)SAA is a bone marrow (BM) failure syndrome characterized by immune-mediated destruction of hematopoietic progenitors. MDS is a malignant clonal stem cell disorder, of which...

  1. Childhood ovarian malignancy.

    Science.gov (United States)

    Mahadik, Kalpana; Ghorpade, Kanchanmala

    2014-04-01

    Objective of this article is to appraise diagnostic aspects and treatment modalities in childhood ovarian tumor in background of available evidence. Literature search on Pubmed revealed various aspects of epidemiology, histopathological diagnosis, and treatment of pediatric ovarian tumor. 85 % of childhood tumors are germ cell tumors. The varied histopathological picture in germ cell tumors poses a diagnostic and therapeutic challenge. Immunohistochemistry and newer genetic markers like SALL4 and karyopherin-2 (KPNA2) have been helpful in differentiating ovarian yolk sac tumor from dysgerminoma, teratomas, and other pictures of hepatoid, endometrioid, clear cell carcinomatous, and adenocarcinomatous tissues with varied malignant potential. Before platinum therapy, these tumors were almost fatal in children. Fertility-conserving surgery with bleomycin, etoposide, and cisplatin has dramatically changed the survival rates in these patients. This modality gives cancer cure with healthy offspring to female patients with childhood ovarian tumor. Evidence also supports this protocol resulting in successful pregnancy rates and safety of cytotoxic drugs in children born to these patients. PMID:24757335

  2. Memory Functioning in Children with Epilepsy: Frontal Lobe Epilepsy, Childhood Absence Epilepsy, and Benign Epilepsy with Centrotemporal Spikes

    OpenAIRE

    Ana Filipa Lopes; José Paulo Monteiro; Maria José Fonseca; Conceição Robalo; Mário Rodrigues Simões

    2014-01-01

    Specific cognitive deficits have been identified in children with epilepsy irrespective of results on intelligence tests. Memory deficits are traditionally attributed to temporal lobe epilepsy, whereas the impact of frontal lobe epilepsy on memory functions has remained controversial. The aim of this study was the examination of memory abilities in other childhood common epilepsy syndromes (frontal lobe epilepsy (FLE), childhood absence epilepsy (CAE), and benign epilepsy with centrotemporal ...

  3. Obesitas bij kinderen in China: prevalentie, determinanten en gezondheid = Childhood obesity in China: prevalence, determinants and health

    OpenAIRE

    Li Yanping

    2007-01-01

    Over the past two decades, China has been undergoing rapid socio-economic and nutrition transitions. Along with these transitions, childhood obesity and its related metabolic and psychological abnormalities are becoming serious public health problems in China. However, no national figures on the occurrence of childhood obesity, its determinants and its relationship with metabolic syndrome were available in China, until now. Data of  44880 youngsters aged 7-17 years from the nationally represe...

  4. Childhood Obesity and Obstructive Sleep Apnea

    Directory of Open Access Journals (Sweden)

    Indra Narang

    2012-01-01

    Full Text Available The global epidemic of childhood and adolescent obesity and its immediate as well as long-term consequences for obese individuals and society as a whole cannot be overemphasized. Obesity in childhood and adolescence is associated with an increased risk of adult obesity and clinically significant consequences affecting the cardiovascular and metabolic systems. Importantly, obesity is additionally complicated by obstructive sleep apnea (OSA, occurring in up to 60% of obese children. OSA, which is diagnosed using the gold standard polysomnogram (PSG, is characterised by snoring, recurrent partial (hypopneas or complete (apneas obstruction of the upper airway. OSA is frequently associated with intermittent oxyhemoglobin desaturations, sleep disruption, and sleep fragmentation. There is emerging data that OSA is associated with cardiovascular burden including systemic hypertension, changes in ventricular structure and function, arterial stiffness, and metabolic syndromes. Thus, OSA in the context of obesity may independently or synergistically magnify the underlying cardiovascular and metabolic burden. This is of importance as early recognition and treatment of OSA in obese children are likely to result in the reduction of cardiometabolic burden in obese children. This paper summarizes the current state of understanding of obesity-related OSA. Specifically, this paper will discuss epidemiology, pathophysiology, cardiometabolic burden, and management of obese children and adolescents with OSA.

  5. High Self-reported Rates of Neglect and Emotional Abuse, by Persons with Binge Eating Disorder and Night Eating Syndrome

    OpenAIRE

    Allison, Kelly C.; Grilo, Carlos M.; Masheb, Robin M.; Stunkard, Albert J.

    2007-01-01

    This study compared rates of self-reported childhood maltreatment in three groups diagnosed using semi-structured interviews: binge eating disorder (BED; n = 176), night eating syndrome (NES, n = 57), and overweight/obese comparison (OC, n = 38). We used the Childhood Trauma Questionnaire (CTQ) to assess childhood maltreatment and the Beck Depression Inventory-II to assess depression levels. Reports of maltreatment were common in patients with BED (82%), NES (79%), and OC (71%). The BED group...

  6. Multivariate Analysis of Relationship between Childhood Trauma and Psychotic Symptoms in Patients with Schizophrenia.

    Science.gov (United States)

    Chae, Sungun; Sim, Minyoung; Lim, Mijeong; Na, Joonho; Kim, Daeho

    2015-07-01

    The aim of this study was to examine the relationship between childhood trauma and psychotic symptoms in schizophrenic patients after controlling for the possible confounding factors, such as depression and dissociative symptoms. Ninety-eight schizophrenic inpatients participated. Childhood trauma was examined using the Childhood Trauma Questionnaires (CTQ), which consists of physical abuse (PA), sexual abuse (SA), emotional abuse (EA), physical neglect (PN), and emotional neglect (EN). Positive and Negative Syndrome Scale (PANSS), Dissociative Experience Scale (DES), and Beck's Depression Inventory (BDI) were also administered. Data were analyzed by partial correlation and general linear model. The total score of CTQ was positively correlated with positive, general, and total scores of PANSS. All five types of childhood trauma were associated with dissociative symptoms. EA and EN were positively correlated with depressive symptoms. Only SA significantly predicted positive symptoms of schizophrenia after controlling for age, sex, BDI, and DES scores, with a dose-response relationship between SA and positive symptoms. PMID:26207135

  7. Moyamoya disease associated with antiphospholipid syndrome

    Directory of Open Access Journals (Sweden)

    Mahmut Abuhandan

    2011-12-01

    Full Text Available Moyamoya (MMD is a disease that often involves the vascular structures of anterior cerebral circulation, particularly the proximal segments of anterior and middle cerebral arteries. The etiology of the disease is unknown. MMD often presents with cerebral ischemia and rarely with cerebral hemorrhage. The pathology is termed Moyamoya syndrome (MMS when the pathological cerebral angiography findings are accompanied by meningitis, neurofibromatosis, neoplasm, Down syndrome or polycystic kidney disease. Autoimmune diseases including Graves’ disease, Behcet’s disease and antiphospholipid syndrome might also lead to the development of MMS. In this manuscript, we presented an interesting case of MMD associated with antiphospholipid syndrome, which is quite a rare cause of acute cerebral infarction in childhood

  8. Natural history of cardiovascular manifestations in Marfan syndrome

    OpenAIRE

    Karnebeek, van, C.D.; Naeff, M.S.J.; Mulder, B.J.M.; Hennekam, R C M; Offringa, M

    2001-01-01

    AIMS—To investigate the natural history of mitral valve and aortic abnormalities in patients with Marfan syndrome during childhood and adolescence.
METHODS—Fifty two patients with Marfan syndrome were followed for a mean of 7.9 years. Occurrence of adverse cardiovascular outcomes was measured clinically and by ultrasound examination.
RESULTS—Mitral valve prolapse (MVP) was diagnosed in 46 patients at a mean age of 9.7 years, more than 80% of whom presented as "silent MVP"...

  9. Craniovertebral junction stenosis in Lenz-Majewski syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Mizuguchi, Koichi; Ishigro, Akira [National Center for Child Health and Development, Department of General Pediatrics and Interdisciplinary Medicine, Setagaya-ku, Tokyo (Japan); Miyazaki, Osamu [National Center for Child Health and Development, Department of Radiology, Tokyo (Japan); Nishimura, Gen [Tokyo Metropolitan Children' s Medical Center, Department of Pediatric Imaging, Tokyo (Japan)

    2015-09-15

    We report a girl with Lenz-Majewski syndrome associated with craniovertebral junction stenosis that led to communicating hydrocephalus and cervical myelopathy. The life-threatening complication was related to progressive craniovertebral hyperostosis that rapidly exacerbated during early childhood. Despite initial success of surgical intervention at 2 years of age, she developed apneic spells and died suddenly at age 5 years. Close monitoring for craniovertebral junction stenosis is essential to reduce morbidity and mortality in children with Lenz-Majewski syndrome. (orig.)

  10. Impairment and Coping in Children and Adolescents with Chronic Fatigue Syndrome: A Comparative Study with Other Paediatric Disorders

    Science.gov (United States)

    Garralda, M. Elena; Rangel, Luiza

    2004-01-01

    Background: Functional impairment is a key feature of chronic fatigue syndrome (CFS) of childhood. Aim: To compare impairment, illness attitudes and coping mechanisms in childhood CFS and in other paediatric disorders. Method: Participants were 28 children and adolescents with CFS, 30 with juvenile idiopathic arthritis (JIA) and 27 with emotional…

  11. Genetics of obesity and overgrowth syndromes.

    Science.gov (United States)

    Sabin, Matthew A; Werther, George A; Kiess, Wieland

    2011-02-01

    Childhood overweight and obesity is highly prevalent within society. In the majority of individuals, weight gain is the result of exposure to an 'obesogenic' environment, superimposed on a background of genetic susceptibility brought about by evolutionary adaptation. These individuals tend to be tall in childhood with a normal final adult height, as opposed to those who have an underlying monogenic cause where short stature is more common (although not universal). Identifying genetic causes of weight gain, or tall stature and overgrowth, within this setting can be extremely problematic and yet it is imperative that clinicians remain alert, as identification of a genetic diagnosis has major implications for the individual, family and potential offspring. Alongside this, the recognition of new genetic mutations in this area is furthering our knowledge on the important mechanisms that regulate childhood growth and body composition. This review describes the genetic syndromes associated with obesity and overgrowth. PMID:21396586

  12. Adverse Childhood Experiences and Childhood Autobiographical Memory Disturbance

    Science.gov (United States)

    Brown, David W.; Anda, Robert F.; Edwards, Valerie J.; Felitti, Vincent J.; Dube, Shanta R.; Giles, Wayne H.

    2007-01-01

    Objective: To examine relationships between childhood autobiographical memory disturbance (CAMD) and adverse childhood experiences (ACEs) which are defined as common forms of child maltreatment and related traumatic stressors. Methods: We use the ACE score (an integer count of eight different categories of ACEs) as a measure of cumulative exposure…

  13. Sotos syndrome: An interesting disorder with gigantism

    Science.gov (United States)

    Nalini, A.; Biswas, Arundhati

    2008-01-01

    We report the case of a 16-year-old boy diagnosed to have Sotos syndrome, with rare association of bilateral primary optic atrophy and epilepsy. He presented with accelerated linear growth, facial gestalt, distinctive facial features, seizures and progressive diminution of vision in both eyes. He had features of gigantism from early childhood. An MRI showed that brain and endocrine functions were normal. This case is of interest, as we have to be aware of this not so rare disorder. In addition to the classic features, there were two unusual associations with Sotos syndrome in the patient. PMID:19893668

  14. Childhood obesity in developing countries: epidemiology, determinants, and prevention.

    Science.gov (United States)

    Gupta, Nidhi; Goel, Kashish; Shah, Priyali; Misra, Anoop

    2012-02-01

    Rapidly changing dietary practices and a sedentary lifestyle have led to increasing prevalence of childhood obesity (5-19 yr) in developing countries recently: 41.8% in Mexico, 22.1% in Brazil, 22.0% in India, and 19.3% in Argentina. Moreover, secular trends indicate increasing prevalence rates in these countries: 4.1 to 13.9% in Brazil during 1974-1997, 12.2 to 15.6% in Thailand during 1991-1993, and 9.8 to 11.7% in India during 2006-2009. Important determinants of childhood obesity include high socioeconomic status, residence in metropolitan cities, female gender, unawareness and false beliefs about nutrition, marketing by transnational food companies, increasing academic stress, and poor facilities for physical activity. Childhood obesity has been associated with type 2 diabetes mellitus, the early-onset metabolic syndrome, subclinical inflammation, dyslipidemia, coronary artery diseases, and adulthood obesity. Therapeutic lifestyle changes and maintenance of regular physical activity through parental initiative and social support interventions are the most important strategies in managing childhood obesity. Also, high-risk screening and effective health educational programs are urgently needed in developing countries. PMID:22240243

  15. Urofacial syndrome

    Directory of Open Access Journals (Sweden)

    Kamal F Akl

    2012-01-01

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

  16. Waardenburg syndrome.

    OpenAIRE

    Read, A P; Newton, V E

    1997-01-01

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

  17. Sweet Syndrome

    OpenAIRE

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

    1996-01-01

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

  18. Revesz syndrome

    Directory of Open Access Journals (Sweden)

    Dayane Cristine Issaho

    2015-04-01

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

  19. Metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Gogia Atul

    2006-02-01

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

  20. Velocardiofacial syndrome.

    OpenAIRE

    Pike, A. C.; Super, M.

    1997-01-01

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

  1. Sotos syndrome: An interesting disorder with gigantism

    OpenAIRE

    Nalini A; Biswas Arundhati

    2008-01-01

    We report the case of a 16-year-old boy diagnosed to have Sotos syndrome, with rare association of bilateral primary optic atrophy and epilepsy. He presented with accelerated linear growth, facial gestalt, distinctive facial features, seizures and progressive diminution of vision in both eyes. He had features of gigantism from early childhood. An MRI showed that brain and endocrine functions were normal. This case is of interest, as we have to be aware of this not so rare disorder. In additio...

  2. Sheehan syndrome

    Science.gov (United States)

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

  3. What Is Down Syndrome?

    Science.gov (United States)

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

  4. Marfan Syndrome (For Teens)

    Science.gov (United States)

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

  5. Down Syndrome: Eye Problems

    Science.gov (United States)

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

  6. Proteus Syndrome Foundation

    Science.gov (United States)

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

  7. Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited.

    Science.gov (United States)

    Karagianni, Paraskevi; Lambropoulos, Vassilios; Stergidou, Dorothea; Fryssira, Helena; Chatziioannidis, Ilias; Spyridakis, Ioannis

    2016-05-01

    Kabuki syndrome is a genetic condition characterized by distinctive facial phenotype, mental retardation, and internal organ malformations. Mutations of the epigenetic genes KMT2D and KDM6A cause dysregulation of certain developmental genes and account for the multiple congenital anomalies of the syndrome. Eight cases of malignancies have been reported in young patients with Kabuki syndrome although a causative association to the syndrome has not been established. We report a case of a 12-year-old girl with Kabuki syndrome who developed a tumor on the right side of her neck. A relapsing tumor 19 months after initial excision, proved to be giant cell fibroblastoma. Τhis is the first report of giant cell fibroblastoma -a rare tumor of childhood- in a patient with Kabuki syndrome. © 2016 Wiley Periodicals, Inc. PMID:26898171

  8. Teachers in Early Childhood Policy

    Science.gov (United States)

    Kilderry, Anna

    2014-01-01

    This paper examines teacher accountability and authority in early childhood policy. It reports on data from a study that investigated the influences affecting early childhood teacher decision-making at the preschool level in Victoria, Australia. Using a question raised by Ball "Where are the teachers in all this [policy]?" provided a…

  9. Adverse Childhood Experiences and Hallucinations

    Science.gov (United States)

    Whitfield, C.L.; Dube, S.R.; Felitti, V.J.; Anda, R.F.

    2005-01-01

    Objective:: Little information is available about the contribution of multiple adverse childhood experiences (ACEs) to the likelihood of reporting hallucinations. We used data from the ACE study to assess this relationship. Methods:: We conducted a survey about childhood abuse and household dysfunction while growing up, with questions about health…

  10. Markets and Childhood Obesity Policy

    Science.gov (United States)

    Cawley, John

    2006-01-01

    In examining the childhood obesity epidemic from the perspective of economics, John Cawley looks at both possible causes and possible policy solutions that work through markets. The operation of markets, says Cawley, has contributed to the recent increase in childhood overweight in three main ways. First, the real price of food fell. In…

  11. Diagnostic role of magnetic resonance angiography in Swyer James syndrome: Case series of two cases

    OpenAIRE

    Parashari Umesh; Singh Ragini; Parihar Anit; Aga Pallavi; Yadav Rajesh

    2010-01-01

    Swyer James syndrome is a rare syndrome which occurs due to viral illness in early childhood. The post infective obliterative bronchiolitis results in arrest of lung growth and alveolarization with reduced vascularity resulting in classical radiological features. We describe two cases of patients fulfilling all the criteria of the syndrome - 1) Unilateral hyperlucent small lung in chest radiograph with air trapping on expiration, small ipsilateral hila and pulmonary artery. 2) Diffuse decreas...

  12. Family Environment and Behavior Problems in Children, Adolescents, and Adults with Fragile X Syndrome

    OpenAIRE

    Greenberg, Jan S.; Seltzer, Marsha Mailick; Baker, Jason K.; Smith, Leann E.; Warren, Steven F.; Brady, Nancy; Hong, Jinkuk

    2012-01-01

    We examine how the family environment is associated with aspects of the Fragile X syndrome phenotype during childhood, adolescence, and adulthood. Mothers of children (n = 48), adolescents (n = 85), and adults (n = 34) with Fragile X syndrome participated in a multisite study. For children and adults with Fragile X syndrome, the presence of warmth and positivity and the absence of criticism were associated with fewer behavior problems. Although a higher level of criticism was significantly as...

  13. The epileptic syndromes with continuous spikes and waves during slow sleep: definition and management guidelines.

    OpenAIRE

    Bogaert, P; Aeby, A.; De Borchgrave, V.; De Cocq, C.; Deprez, Manuel; De Tiege, X.; de Tourtchaninoff, M.; Dubru, Jean-Marie; Foulon, Maggy; Ghariani, S.; Grisar, Thierry; Legros, B; Ossemann, M; Tugendhaft, P.; Van Rijckevorsel, K

    2006-01-01

    The authors propose to define the epileptic syndromes with continuous spikes and waves during slow sleep (CSWS) as a cognitive or behavioral impairment acquired during childhood, associated with a strong activation of the interictal epileptiform discharges during NREM sleep--whatever focal or generalized--and not related to another factor than the presence of CSWS. The type of syndrome will be defined according to the neurological and neuropsychological deficit. These syndromes have to be cla...

  14. Migraine and lifestyle in childhood.

    Science.gov (United States)

    Casucci, Gerardo; Villani, Veronica; d'Onofrio, Florindo; Russo, Antonio

    2015-05-01

    Migraine is one of the most frequently reported somatic complaints in childhood, with a negative impact on health-related quality of life. The incidence of migraine in childhood has substantially increased over the past 30 years, probably due to both increased awareness of the disease and lifestyle changes in this age group. Indeed, several conditions have been identified as risk factors for migraine in childhood. Amongst these, dysfunctional family situation, the regular consumption of alcohol, caffeine ingestion, low level of physical activity, physical or emotional abuse, bullying by peers, unfair treatment in school and insufficient leisure time seem to play a critical role. Nevertheless, there are only few studies about the association between migraine and lifestyle in childhood, due to previous observations specifically focused on "headache" in children. In this brief review, we will concentrate upon recent studies aimed to explore migraine and lifestyle risk factors in childhood. PMID:26017522

  15. Stroke in childhood

    OpenAIRE

    Serap Teber; Gülhis Deda

    2011-01-01

    Stroke in childhood is one of the most common causes of death or severe impairment worldwide, with annual incidence estimated from 1,3 to 13 cases/100.000 population. The definition of stroke consists both of arterial ischemic stroke (AIS) and hemorrhagic stroke. The incidence of ischemic and hemorrhagic stroke in children is approximately the same, in contrast to adults, while the incidence is higher in boys than it is in girls. Risks factors for pediatric stroke differ from those for adults...

  16. Subclinical hypothyroidism in childhood.

    LENUS (Irish Health Repository)

    O'Grady, M J

    2012-02-01

    Subclinical hypothyroidism (SH) is defined as an elevated thyroid stimulating hormone (TSH) in association with a normal total or free thyroxine (T4) or triiodothyronine (T3). It is frequently encountered in both neonatology and general paediatric practice; however, its clinical significance is widely debated. Currently there is no broad consensus on the investigation and treatment of these patients; specifically who to treat and what cut-off level of TSH should be used. This paper reviews the available evidence regarding investigation, treatments and outcomes reported for childhood SH.

  17. Nonfatal suicidal behavior among women prisoners: the predictive roles of childhood victimization, childhood neglect, and childhood positive support.

    Science.gov (United States)

    Tripodi, Stephen J; Onifade, Eyitayo; Pettus-Davis, Carrie

    2014-04-01

    Women entering prison report high rates of childhood victimization. Women in prison also report higher rates of nonfatal suicidal behavior (self-reported suicide attempts) than women in the general population and similar rates to their male counterparts despite having significantly lower suicide rates than males in the general population. Yet, there is a dearth of research that addresses the relationship between childhood victimization and suicidality for women prisoners in the United States. The purpose of this study is (a) to assess the relationship between childhood victimization and nonfatal suicidal behavior for a random sample of women prisoners; (b) to investigate predictive differences between childhood physical victimization, childhood sexual victimization, childhood neglect, and childhood support; and (c) to determine whether women prisoners with higher frequencies of childhood victimization and neglect are more likely to have attempted suicide than women prisoners with lower frequencies. Results indicate that childhood victimization, neglect, and lack of support are all significantly associated with nonfatal suicidal behavior among women prisoners. Frequency of childhood neglect had a larger effect size than frequency of childhood physical victimization, childhood sexual victimization, and lack of support. The results of this study add to the growing body of literature on childhood victimization and suicidality in general, and nonfatal suicidal behavior for prisoner populations in particular. The article ends with a discussion on clinical implications; particularly the finding that frequency of childhood victimization, childhood neglect, and lack of childhood support matters when determining the risk of suicidality. PMID:23315427

  18. Personality Disorders and Clinical Syndromes in ADHD Prisoners

    Science.gov (United States)

    Gudjonsson, Gisli H.; Wells, June; Young, Susan

    2012-01-01

    Objective: The main objective of this article is to investigate the type of personality disorders and clinical syndromes (CSs) that were best related to ADHD symptoms among prisoners. Method: The authors screened for childhood and adult ADHD symptoms and administered the Millon Clinical Multiaxial Inventory-III (MCMI-III) to 196 serving prisoners.…

  19. Williams Syndrome: A Relationship between Genetics, Brain Morphology and Behaviour

    Science.gov (United States)

    Fahim, C.; Yoon, U.; Nashaat, N. H.; Khalil, A. K.; El-Belbesy, M.; Mancini-Marie, A.; Evans, A. C.; Meguid, N.

    2012-01-01

    Background: Genetically Williams syndrome (WS) promises to provide essential insight into the pathophysiology of cortical development because its ~28 deleted genes are crucial for cortical neuronal migration and maturation. Phenotypically, WS is one of the most puzzling childhood neurodevelopmental disorders affecting most intellectual…

  20. A Study of the Relationship between Early Childhood Program Attributes and Early Childhood Reading Achievement

    Science.gov (United States)

    Washington, Novella M.

    2012-01-01

    This quantitative correlational study focuses on the relationship between early childhood program attributes and early childhood reading success. Data will be gathered from early childhood sites with grades prekindergarten through second grade in which early childhood program attributes exist and early childhood reading is measured by the…

  1. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ravinder K. Gupta, Ritu Gupta, Sunil Dutt Sharma

    2006-10-01

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

  2. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Akcan AB.

    2013-06-01

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

  3. Tourette Syndrome.

    Science.gov (United States)

    Look, Kathy

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

  4. Antiphospholipid syndrome

    DEFF Research Database (Denmark)

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

    2002-01-01

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

  5. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    George Renu

    1993-01-01

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

  6. Burnout Syndrome

    OpenAIRE

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

    2013-01-01

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

  7. Poland syndrome

    Directory of Open Access Journals (Sweden)

    Chandra Madhur Sharma

    2014-01-01

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

  8. Noonan Syndrome

    Directory of Open Access Journals (Sweden)

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

    2004-10-01

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

  9. Bloom's Syndrome

    Science.gov (United States)

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

  10. Acute hemiplegia in childhood

    Energy Technology Data Exchange (ETDEWEB)

    Okuno, Takehiko; Takao, Tatsuo; Itoh, Masatoshi; Konishi, Yukuo; Nakano, Shozo (Kyoto Univ. (Japan). Faculty of Medicine)

    1983-04-01

    The results of CT in 100 patients with acute hemiplegia in childhood are reported here. The etiology was various: 2 patients had infratentorial brain tumors, 56 had cerebral vascular diseases, 3 had head injuries, 16 had intracranial infectious diseases, one had postinfectious encephalomyelitis, one had multiple sclerosis, 2 had epilepsy, and the diagnosis of 19 were unknown. Eleven patients had a normal CT and a good prognosis. As for the type of onset, there were patients of type 1 with fever and 42 with convulsions and unconsciousness; those of type 2 with convulsions and unconsciousness were 12, and those of type 3 without fever and convulsions were 46. This classification is assumed to be useful, as the type of onset is characteristic of the etiology. Six patients were diagnosed correctly by repeated examinations, although the first CT did not reveal any remarkable findings. Capsular infarction, occlusion of the posterior cerebral artery in acute hemiplegia in childhood, abnormal findings of the internal capsule, thalamus, and midbrain in a patient with postinfectious encephalomyelitis, and a diffuse low density in the CT of the unilateral hemisphere in the patients with acute encephalopathy and acute hemiplegia of an obscure origin have been found after the introduction of computerized tomography.

  11. Childhood depression: a systematic review

    Directory of Open Access Journals (Sweden)

    Lima NNR

    2013-09-01

    Full Text Available Nádia Nara Rolim Lima,1 Vânia Barbosa do Nascimento,1 Sionara Melo Figueiredo de Carvalho,1 Luiz Carlos de Abreu,1,3 Modesto Leite Rolim Neto,2 Aline Quental Brasil,2 Francisco Telésforo Celestino Junior,2 Gislene Farias de Oliveira,2 Alberto Olavo Advíncula Reis3 1Programa de Pós-graduação em Ciências da Saúde, Faculdade de Medicina do ABC, Santo André, São Paulo, Brazil; 2Departamento de Medicina. Universidade Federal do Ceará, UFC, Barbalha, Ceará, Brazil; 3Departamento de Saúde Materno Infantil, Faculdade de Saúde Pública, Universidade de São Paulo, São Paulo, Brazil Abstract: As an important public health issue, childhood depression deserves special attention, considering the serious and lasting consequences of the disease to child development. Taking this into consideration, the present study was based on the following question: what practical contributions to clinicians and researchers does the current literature on childhood depression have to offer? The objective of the present study was to conduct a systematic review of articles regarding childhood depression. To accomplish this purpose, a systematic review of articles on childhood depression, published from January 1, 2010 to November 24, 2012, on MEDLINE and SciELO databases was carried out. Search terms were “depression” (medical subject headings [MeSH], “child” (MeSH, and "childhood depression" (keyword. Of the 180 retrieved studies, 25 met the eligibility criteria. Retrieved studies covered a wide range of aspects regarding childhood depression, such as diagnosis, treatment, prevention and prognosis. Recent scientific literature regarding childhood depression converge to, directly or indirectly, highlight the negative impacts of depressive disorders to the children's quality of life. Unfortunately, the retrieved studies show that childhood depression commonly grows in a background of vulnerability and poverty, where individual and familiar needs

  12. Disease Risks of Childhood Obesity in China

    Institute of Scientific and Technical Information of China (English)

    YAN-PING LI; XIAO-GUANG YANG; FENG-YING ZHAI; JIAN-HUA PIAO; WEN-HUA ZHAO; JIAN ZHANG; GUAN-SHENG MA

    2005-01-01

    .3% obese boys and all obese girls had metabolic syndrome, while only15.5% normal weight boys and 18.8% normal weight girls had metabolic syndrome. Four risk factors for metabolic syndrome were found in 8.3% obese boys while none in normal weight boys and girls. The prevalence of MetS among normal weight,overweight, and obesity groups was 1.5%, 18.3%, and 38.1% respectively. Conclusion The cardiovascular disease (CVD)risk factors are clustered in obese Chinese children. Our observations strongly suggest that efforts should be made to prevent the onset of overweight and its associated diseases during early childhood.

  13. Otologic Problems in Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ahmadreza Okhovat

    2011-06-01

    Full Text Available Background and Aim: Turner syndrome is the most common sex chromosome abnormality in females, affecting an estimated 3% of all conceiving females. Otologic disease is a common problem in Turner syndrome patients that is due to a combination of small dysfunction Eustachian tube, palatal dysfunction and cochlear malformation.Methods: This study assessed the otologic and audiologic characteristics of a group of Turner syndrome patients. We studied 40 Turner patients aged 10 to 20 years (mean age: 15.84 years, SD=2.67. Pure tone audiometry was carried out for all of them.Results: Forty percent of the patients reported a history of middle ear disease. Analysis of audiometric data in 40 patients tested reveals normal hearing in 47.5%, pure sensorineural hearing loss in 32.5%, pure conductive hearing loss in 17.5% and mixed hearing loss in 2.5% of patients.Conclusion: Careful follow up during early childhood of children with Turner syndrome is necessary to detect middle ear disease and prevent the probable sequel. However, long term periodic follow up is mandatory even after resolution of middle ear disease to detect sensorineural hearing loss

  14. Acute Necrotizing Encephalopathy of Childhood; A Case Report

    Directory of Open Access Journals (Sweden)

    Mohammad Reza SALEHIOMRAN

    2013-06-01

    : correlation of MR findings and clinical outcome. AJNR Am J Neuroradiol 2006 Oct; 27(9: 1919-23.8. Mizuguchi M. [Acute necrotizing encephalopathy of childhood]. Ryoikibetsu Shokogun Shirizu 2000; (30 Pt 5:527-30. Review. Japanese.9. San Millan B, Teijeira S, Penin C, Garcia JL, Navarro C. Acute necrotizing encephalopathy of childhood: report of a Spanish case. Pediatr Neurol 2007 Dec; 37(6: 438- 41.10. Mizuguchi M, Abe J, Mikkaichi K, Noma S, Yoshida K, Yamanaka T, et al. Acute necrotising encephalopathy of childhood: a new syndrome presenting with multifocal, symmetric brain lesions. J Neurol Neurosurg Psychiatry 1995 May; 58(5: 555-61.11. Weng WC, Peng SS, Lee WT. Acute necrotizing encephalopathy of childhood with spinal cord involvement: a case report. J Child Neurol 2010 Dec; 25(12:1539-41.12. Ozawa T, Nakashima Y, Ito R, Hirano A, Kondo T. EEG findings in a case of acute necrotizing encephalopathy of childhood associated with influenza A virus infection. No To Hattatsu 2001 Jan;33(1:63-8. Japanese.13. Kurachi Y, Kawahara H, Hatakeyama K, Yazawa K, Kubota M, Oka A, et al. Acute necrotizing encephalopathy with horizontal gaze palsy. No To Shinkei 1997 Aug;49(8: 753-8. Japanese.

  15. Savant Syndrome: Clinical and Neuropsychological Features

    Directory of Open Access Journals (Sweden)

    Ibrahim Durukan

    2010-08-01

    Full Text Available Savant syndrome defines the people who have severe developmental and mental disabilities but also have extraordinary mental skills which are missing in many people. Although general mental capacity is under average mental level, savant has excessive knowledge about one or more domains. It is accepted that as many as one in 10 persons with autistic disorder have such remarkable abilities in varying degrees, although savant syndrome occurs in other developmental disabilities or in other types of central nervous system injury or disease as well. Males outnumber females by an approximate 6 : 1 ratio in savant syndrome. Savant skills are limited to five general categories. These are music, art, calender calculating, mathematics and mechanical or spatial skills. Savant skills can also be divided into three as savants who have splinter skills, talented savants and prodigious savants. A remarkable memory welds to the special abilities determined in savant syndrome. Savant syndrome can be congenital or it can be acquired. Most often savant skills emerge in childhood, superimposed on some underlying developmental disability present at birth. However, acquired savant skills can also appear, when none were previously present, in neurotypical individuals following brain injury or disease later in infancy, childhood or adult life. Savant skills don’t depend on only rote memory. It is approved that an enhanced or spared ability to represent and manipulate highly organised domain-specific information. Various theoretic models were defined to explain the neuropsychological profile in savant syndrome. Interest in savants has a long history, stretching back to the early 18th century; nevertheless, the savant syndrome remains as much a mystery now as it did when it was first described. Given that many questions about the existence and nature of savant talent remain unanswered, it seems likely that research efforts will continue unabated.

  16. PFAPA syndrome: a review on treatment and outcome.

    Science.gov (United States)

    Vanoni, Federica; Theodoropoulou, Katerina; Hofer, Michaël

    2016-01-01

    The syndrome of periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA syndrome) is the most common cause of periodic fever in childhood. The current pharmacological treatment includes corticosteroids, which usually are efficacious in the management of fever episodes, colchicine, for the prophylaxis of febrile episodes, and other medication for which efficacy has not been proven so far. Tonsillectomy is an option for selected patients. Usually PFAPA syndrome resolves during adolescence, but there is increasing evidence that this condition may persist into adulthood. PMID:27349388

  17. Glioblastomas, astrocytomas and oligodendrogliomas linked to Lynch syndrome

    DEFF Research Database (Denmark)

    Therkildsen, C; Ladelund, S; Rambech, E;

    2015-01-01

    BACKGROUND AND PURPOSE: Brain tumors represent a rare and relatively uncharacterized tumor type in Lynch syndrome. METHODS: The national Danish Hereditary Nonpolyposis Colorectal Cancer Register was utilized to estimate the cumulative life-time risk for brain tumors in Lynch syndrome, and the...... staining suggestive of the IDH1 R132H mutation. CONCLUSION: In Lynch syndrome brain tumors occurred in 14% of the families with significantly higher risks for individuals with MSH2 gene mutations and development of childhood brain tumors in individuals with constitutional MMR defects....

  18. Maternal and birth characteristics in relation to childhood leukaemia.

    Science.gov (United States)

    Podvin, Danise; Kuehn, Carrie M; Mueller, Beth A; Williams, Michelle

    2006-07-01

    Our objective was to investigate the association of childhood leukaemia with selected maternal and birth characteristics by conducting a population-based case-control study using linked cancer registry and birth certificate records for Washington State. We compared maternal and infant characteristics of 595 Washington-born residents neonatal jaundice (OR 1.5; 95% CI 1.1, 2.1), and Down's syndrome (OR 31.3; 95% CI 6.4, 153.4) were associated with an increased risk of leukaemia. Among women with 2+ pregnancies, having at least two prior early (knowledge of inherent and possibly prenatal influences on the occurrence of this disease. PMID:16879503

  19. Peer Bullying During Early Childhood

    Directory of Open Access Journals (Sweden)

    Hatice UYSAL

    2012-10-01

    Full Text Available Peer bullying during early childhood is discussed along with the literature reviewed in this article with the purpose of drawing attention to peer bullying during early childhood and its significance, and contributing to studies which are few in number in Turkey. Peer bullying during early childhood was considered with its definition and types, people who play key roles in peer bullying, factors (gender, age, parents, and friendship that relate to peer bullying, and what should be done before and after peer bullying.

  20. Biological Therapy in Treating Patients With Advanced Myelodysplastic Syndrome, Acute or Chronic Myeloid Leukemia, or Acute Lymphoblastic Leukemia Who Are Undergoing Stem Cell Transplantation

    Science.gov (United States)

    2013-07-03

    Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities; Adult Acute Myeloid Leukemia With Inv(16)(p13;q22); Adult Acute Myeloid Leukemia With t(15;17)(q22;q12); Adult Acute Myeloid Leukemia With t(16;16)(p13;q22); Adult Acute Myeloid Leukemia With t(8;21)(q22;q22); B-cell Adult Acute Lymphoblastic Leukemia; B-cell Childhood Acute Lymphoblastic Leukemia; Childhood Chronic Myelogenous Leukemia; Childhood Myelodysplastic Syndromes; Chronic Myelomonocytic Leukemia; Essential Thrombocythemia; Polycythemia Vera; Previously Treated Myelodysplastic Syndromes; Recurrent Adult Acute Lymphoblastic Leukemia; Recurrent Adult Acute Myeloid Leukemia; Recurrent Childhood Acute Lymphoblastic Leukemia; Recurrent Childhood Acute Myeloid Leukemia; Refractory Anemia With Excess Blasts; Refractory Anemia With Excess Blasts in Transformation; Relapsing Chronic Myelogenous Leukemia; Secondary Acute Myeloid Leukemia; T-cell Adult Acute Lymphoblastic Leukemia; T-cell Childhood Acute Lymphoblastic Leukemia