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Sample records for childhood brugada syndrome

  1. Brugada Syndrome

    Science.gov (United States)

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

  2. Fever-Induced Brugada Syndrome

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    Sandhya Manohar MD

    2015-03-01

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

  3. Genetics Home Reference: Brugada syndrome

    Science.gov (United States)

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

  4. Brugada syndrome unmasked by fever.

    Science.gov (United States)

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

    2011-08-01

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

  5. 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.

  6. Ageing and Brugada syndrome: considerations and recommendations

    Institute of Scientific and Technical Information of China (English)

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

    2013-01-01

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

  7. Brugada syndrome masquerading as febrile seizures.

    Science.gov (United States)

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

    2007-05-01

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

  8. First clinical manifestation of Brugada syndrome during pregnancy.

    Science.gov (United States)

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

    2013-09-01

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

  9. New Electrocardiographic Features in Brugada Syndrome

    Science.gov (United States)

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

    2014-01-01

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

  10. BRUGADA SYNDROME-A CASE REPORT

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    Kuževska-Maneva Konstandina

    2016-03-01

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

  11. Brugada Syndrome with atypical characteristics: Case report

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    Hatem Ari

    2013-09-01

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

  12. The genetic component of Brugada syndrome

    DEFF Research Database (Denmark)

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

    2013-01-01

    Brugada syndrome (BrS) is a clinical entity first described in 1992. BrS is characterized by ST-segment elevations in the right precordial leads and susceptibility to ventricular arrhythmias and sudden cardiac death. It affects young subjects, predominantly males, with structurally normal hearts.......-defibrillator (ICD). The risk stratification and indications for ICD treatment are based on the ECG and on the clinical and family history. In this review we discuss the genetic basis of BrS......., approximately 70% of BrS cases cannot be explained genetically with the current knowledge. Moreover, the monogenic role of some of the variants previously described as being associated with BrS has been questioned by their occurrence in about 4% (1:23) of the general population as found in NHLBI GO Exome...

  13. Brugada syndrome in a patient with accessory pathway.

    Science.gov (United States)

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

    2002-01-01

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

  14. Brugada syndrome during physical therapy : a case report

    NARCIS (Netherlands)

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

    2008-01-01

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

  15. Large Genomic Imbalances in Brugada Syndrome

    Science.gov (United States)

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

    2016-01-01

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

  16. 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.

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

    Institute of Scientific and Technical Information of China (English)

    孙振晓; 于相芬

    2015-01-01

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

  18. Brugada syndrome risk loci seem protective against atrial fibrillation

    DEFF Research Database (Denmark)

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

    2014-01-01

    Several studies have shown an overlap between genes involved in the pathophysiological mechanisms of atrial fibrillation (AF) and Brugada Syndrome (BrS). We investigated whether three single-nucleotide polymorphisms (SNPs) (rs11708996; G>C located intronic to SCN5A, rs10428132; T>G located in SCN10...... associated with BrS was lower in AF patients than in patients free of AF, suggesting a protective role of these loci in developing AF.European Journal of Human Genetics advance online publication, 26 March 2014; doi:10.1038/ejhg.2014.46....

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

    Science.gov (United States)

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

    2002-04-01

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

  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 inherit......Brugada syndrome (BrS) is a condition characterized by a distinct ST-segment elevation in the right precordial leads of the electrocardiogram and, clinically, by an increased risk of cardiac arrhythmia and sudden death. The condition predominantly exhibits an autosomal dominant pattern...... of inheritance with an average prevalence of 5:10,000 worldwide. Currently, more than 100 mutations in seven genes have been associated with BrS. Loss-of-function mutations in SCN5A, which encodes the alpha-subunit of the Na(v)1.5 sodium ion channel conducting the depolarizing I(Na) current, causes 15-20% of Br......S cases. A few mutations have been described in GPD1L, which encodes glycerol-3-phosphate dehydrogenase-1 like protein; CACNA1C, which encodes the alpha-subunit of the Ca(v)1.2 ion channel conducting the depolarizing I(L,Ca) current; CACNB2, which encodes the stimulating beta2-subunit of the Ca(v)1.2 ion...

  1. 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.

  2. 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,

  3. 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.

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

    Science.gov (United States)

    Sandorfi, Gabor; Clemens, Bela; Csanadi, Zoltan

    2013-10-01

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

  5. 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.

  6. 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.

  7. 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.

  8. 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.

  9. 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

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

    DEFF Research Database (Denmark)

    Risgaard, Bjarke; Bundgaard, Henning; Jabbari, Reza

    2013-01-01

    no cardiac symptoms, although her electrocardiogram changes now were consistent with a BrS type 1 pattern. A genetic test confirmed that she had the same mutation in SCN5A as her brother. In this case-report we present a loss-of function mutation in SCN5A not previously associated with BrS nor presented......Brugada syndrome (BrS) is a rare and inherited primary arrhythmic syndrome characterized by ST-segment elevations in the right precordial leads (V1-V3) with an increased risk of sudden cardiac death (SCD). Arrhythmias in BrS are often nocturne, and brady-arrhythmias are often seen in patients...... with loss-of-function mutations in SCN5A. In this case-report we present a 75-year old woman referred to our outpatient clinic for inherited cardiac diseases for a familial clinical work-up. Since childhood she had suffered from dizziness, absence seizures, and countless Syncope's. In 2004 sick sinus...

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

    NARCIS (Netherlands)

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

    2010-01-01

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

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

    NARCIS (Netherlands)

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

    2013-01-01

    Atrial fibrillation (AF) can be the first manifestation of latent Brugada syndrome (BS). The aim of our study was to assess the prevalence of AF as the first clinical diagnosis in patients with BS and their demographic and clinical characteristics and diagnosis management in a large cohort of patien

  13. 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.

  14. Brugada Syndrome ECG Is Highly Prevalent in Schizophrenia

    NARCIS (Netherlands)

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

    2014-01-01

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

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

    DEFF Research Database (Denmark)

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

    2013-01-01

    Brugada syndrome is a heterogeneous heart rhythm disorder characterized by an atypical right bundle block pattern with ST-segment elevation and T-wave inversion in the right precordial leads. Loss-of-function mutations in SCN5A encoding the cardiac sodium channel Na(V)1.5 are associated with Brug......Brugada syndrome is a heterogeneous heart rhythm disorder characterized by an atypical right bundle block pattern with ST-segment elevation and T-wave inversion in the right precordial leads. Loss-of-function mutations in SCN5A encoding the cardiac sodium channel Na(V)1.5 are associated...... with Brugada syndrome. We found novel mutations in SCN5A in 2 different families diagnosed with Brugada syndrome and investigated how those affected Na(V)1.5 channel function....

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

    Science.gov (United States)

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

    2014-03-01

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

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

    Institute of Scientific and Technical Information of China (English)

    李俊强; 王国林; 宁金民

    2016-01-01

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

  18. Brugada ECG patterns in athletes.

    Science.gov (United States)

    Chung, Eugene H

    2015-01-01

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

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

    Directory of Open Access Journals (Sweden)

    María Isabel Ruiz

    2011-09-01

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

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

    Science.gov (United States)

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

    2013-03-26

    Brugada syndrome (BrS) is a rare and inherited primary arrhythmic syndrome characterized by ST-segment elevations in the right precordial leads (V1-V3) with an increased risk of sudden cardiac death (SCD). Arrhythmias in BrS are often nocturne, and brady-arrhythmias are often seen in patients with loss-of-function mutations in SCN5A. In this case-report we present a 75-year old woman referred to our outpatient clinic for inherited cardiac diseases for a familial clinical work-up. Since childhood she had suffered from dizziness, absence seizures, and countless Syncope's. In 2004 sick sinus syndrome was suspected and she was treated with implantation of a pacemaker (PM) at another institution. An inherited cardiac disease was one day suddenly suspected, as the patient had a 61-year old brother who was diagnosed with symptomatic BrS, and treated with an implantable cardioverter defibrillator (ICD) after aborted SCD. A mutation screening revealed a SCN5A [S231CfsX251 (c.692-693delCA)] loss-of-function mutation not previously reported, and as a part of the cascade screening in relatives she was therefore referred to our clinic. In the 7 year period after PM implantation she had experienced no cardiac symptoms, although her electrocardiogram changes now were consistent with a BrS type 1 pattern. A genetic test confirmed that she had the same mutation in SCN5A as her brother. In this case-report we present a loss-of function mutation in SCN5A not previously associated with BrS nor presented in healthy controls. Sinus node dysfunction has previously been documented in patients with symptomatic BrS, which suggests it is not a rare concomitant. The only accepted treatment of BrS is today implantation of an ICD. In the future studies should evaluate if PM in some cases of symptomatic BrS can be used instead of ICDs in patients with a loss-of-function SCN5A mutations.

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

    Directory of Open Access Journals (Sweden)

    Pietro Paolo Martorano

    2013-01-01

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

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

    Science.gov (United States)

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

    2014-09-01

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

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

    DEFF Research Database (Denmark)

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

    2012-01-01

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

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

    NARCIS (Netherlands)

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

    2012-01-01

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

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

    DEFF Research Database (Denmark)

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

    2009-01-01

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

  6. Douleur thoracique aiguë révélant un syndrome de Brugada

    Science.gov (United States)

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

    2016-01-01

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

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

    Science.gov (United States)

    Antzelevitch, C

    2001-01-01

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

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

    NARCIS (Netherlands)

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

    2001-01-01

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

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

    DEFF Research Database (Denmark)

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

    2014-01-01

    and fibrillation. Case Report A 49-year-old previously healthy man was admitted with electrical storm. The patient received direct current (DC) cardioversion shocks and only after intravenous lidocaine did the electrical storm slowly subside with a total of 255 DC shocks administered during the first 24 h after......Background Brugada syndrome (BrS) is a genetic arrhythmogenic disease characterized by ST-segment elevations in the right precordial leads of the electrocardiogram (ECG). These ECG changes may be concealed and BrS may present with electrical storm characterized by recurrent ventricular tachycardia...... admission. He fully recovered and received an implantable cardioverter-defibrillator. Subsequent drug challenge with flecainide revealed type 1 BrS. Conclusions Massive electrical storm can be the first symptom of BrS and the diagnostic ECG changes may be concealed at presentation. Although hundreds of DC...

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

    Directory of Open Access Journals (Sweden)

    Jyothsna

    2015-05-01

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

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

    Simms Brett A

    2012-03-01

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

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

    DEFF Research Database (Denmark)

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

    2009-01-01

    Recent studies have demonstrated an association between mutations in CACNA1c or CACNB2b and Brugada syndrome (BrS). Previously described mutations all caused a loss of function secondary to a reduction of peak calcium current (I(Ca)). We describe a novel CACNB2b mutation associated with Br...... revealed brief episodes of very rapid ventricular tachycardia. He was also diagnosed with vasovagal syncope. Genomic DNA was isolated from lymphocytes. All exons and intron borders of 15 ion channel genes were amplified and sequenced. The only mutation uncovered was a missense mutation (T11I) in CACNB2b...... that the faster current decay results in a loss-of-function responsible for the Brugada phenotype...

  14. 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.

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

    OpenAIRE

    2013-01-01

    Brugada syndrome is a rare cardiac arrhythmia disorder, causally related to SCN5A mutations in around 20% of cases1–3. Through a genome-wide association study of 312 individuals with Brugada syndrome and 1,115 controls, we detected 2 significant association signals at the SCN10A locus (rs10428132) and near the HEY2 gene (rs9388451). Independent replication confirmed both signals (meta-analyses: rs10428132, P = 1.0 × 10−68; rs9388451, P = 5.1 × 10−17) and identified one additional signal in SC...

  16. Childhood myelodysplastic syndrome.

    Science.gov (United States)

    Chatterjee, Tathagata; Choudhry, V P

    2013-09-01

    Myelodysplastic syndrome (MDS) comprises of a heterogeneous group of bone marrow disorders resulting from a clonal stem cell defect characterised by cytopenias despite a relatively hypercellular marrow, ineffective hematopoiesis, morphological dysplasia in the marrow elements, no response to hematinics such as iron, B12 or folic acid and risk of progression to leukemia. Myelodysplastic syndrome in childhood is extremely rare and accounts for less than 5% of all hematopoietic neoplasms in children below the age of 14 y. The primary MDS in children, also known as de novo MDS differs from secondary MDS which generally follows congenital or acquired bone marrow (BM) failure syndromes as well as from therapy related MDS, commonly resulting from cytotoxic therapy. MDS associated with Down syndrome which accounts for approximately one-fourth of cases of childhood MDS is now considered a unique biologic entity synonymous with Down syndrome-related myeloid leukemia and is biologically distinct from other cases of childhood MDS. Refractory cytopenia of childhood (RCC) is the commonest type of MDS. Genetic changes predisposing to MDS in childhood remain largely obscure. Monosomy 7 is by-far the commonest cytogenetic abnormality associated with childhood MDS; however most cases of RCC show a normal karyotype. Complex cytogenetic abnormalities and trisomy 8 and trisomy 21 are also occasionally observed. The most effective and curative treatment is Hematopoietic stem cell transplantation and this is particularly effective in children with the monosomy 7 genetic defect as well as those displaying complex karyotype abnormalities provided it is instituted early in the course of the disease.

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

    Directory of Open Access Journals (Sweden)

    Yoshiyasu Aizawa

    2010-08-01

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

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

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    Gary Tse

    2016-10-01

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

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

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    Elena Sommariva

    2012-09-01

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

  20. 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...

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

    Science.gov (United States)

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

    2016-10-01

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

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

    Directory of Open Access Journals (Sweden)

    Lumin Wang

    2015-07-01

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

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

    DEFF Research Database (Denmark)

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

    2014-01-01

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

  4. [Childhood periodic syndromes].

    Science.gov (United States)

    Cuvellier, J-C; Lépine, A

    2010-01-01

    This review focuses on the so-called "periodic syndromes of childhood that are precursors to migraine", as included in the Second Edition of the International Classification of Headache Disorders. Three periodic syndromes of childhood are included in the Second Edition of the International Classification of Headache Disorders: abdominal migraine, cyclic vomiting syndrome and benign paroxysmal vertigo, and a fourth, benign paroxysmal torticollis is presented in the Appendix. The key clinical features of this group of disorders are the episodic pattern and intervals of complete health. Episodes of benign paroxysmal torticollis begin between 2 and 8 months of age. Attacks are characterized by an abnormal inclination and/or rotation of the head to one side, due to cervical dystonia. They usually resolve by 5 years. Benign paroxysmal vertigo presents as sudden attacks of vertigo, accompanied by inability to stand without support, and lasting seconds to minutes. Age at onset is between 2 and 4 years, and the symptoms disappear by the age of 5. Cyclic vomiting syndrome is characterized in young infants and children by repeated stereotyped episodes of pernicious vomiting, at times to the point of dehydration, and impacting quality of life. Mean age of onset is 5 years. Abdominal migraine remains a controversial issue and presents in childhood with repeated stereotyped episodes of unexplained abdominal pain, nausea and vomiting occurring in the absence of headache. Mean age of onset is 7 years. Both cyclic vomiting syndrome and abdominal migraine are noted for the absence of pathognomonic clinical features but also for the large number of other conditions to be considered in their differential diagnoses. Diagnostic criteria, such as those of the Second Edition of the International Classification of Headache Disorders and the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, have made diagnostic approach and management easier. Their diagnosis

  5. 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

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

    Institute of Scientific and Technical Information of China (English)

    高娟; 白亚娜; 程宁; 胡晓斌

    2011-01-01

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

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

    Institute of Scientific and Technical Information of China (English)

    陈君柱; 谢旭东; 王兴祥; 陶明; 尚云鹏; 郭晓钢

    2004-01-01

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

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

    Directory of Open Access Journals (Sweden)

    M Khatami

    2014-04-01

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

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

    DEFF Research Database (Denmark)

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

    2016-01-01

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

  10. 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.

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

    DEFF Research Database (Denmark)

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

    2008-01-01

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

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

    Science.gov (United States)

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

    2017-01-01

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

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

    Science.gov (United States)

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

    2017-01-01

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

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

    Science.gov (United States)

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

    2017-01-01

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

  15. Sectio og Brugadas syndrom

    DEFF Research Database (Denmark)

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

    2016-01-01

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

  16. [The Hypereosinophilic Syndromes in Childhood].

    Science.gov (United States)

    Leu, T; Simon, H-U; Hebestreit, H; Kunzmann, S

    2015-11-01

    The hypereosinophilic syndromes are rare disorders in childhood and require extensive differential diagnostic considerations. In the last years the earlier "idiopathic HES" called syndromes could be differentiated into molecular biologically, immunophenotypically and clinically more characterized heterogeneous diseases with high therapeutic and prognostic relevance. Nowadays the term HES summarizes diseases, which go hand in hand with a local or systemic hypereosinophilia (HE) connected with an organ damage. Depending on the cause of the HE one differentiates primary/neoplastic HES (HESN) from secondary/reactive HES (HESR). The latter develops reactively in connection with allergies, parasitosis, medications, neoplasia or a clonal increase of T-lymphocytes among others. With HESN the HE results from a clonal increase of eosinophilic granulocytes. While for some subgroups of the HESN (among others FIP1L1-PDGFRA fusion gene) the administration of a tyrosine kinase inhibitor is a new and effective therapy option, glucocorticoids still represent the medication of first choice for many not PDGFRA associated variants. Different immunomodulatory drugs or cytostatic agents are necessary to allow dose reduction of glucocorticoids. The promising therapy with anti-IL-5 antibodies is still not approved in infancy, could however become a treatment option in the future. Due to the present lack of knowledge about the HES in infancy the establishment of a register should be aimed for the treatment of HES in infancy.

  17. Síndrome de Brugada durante el embarazo

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    Eduardo Reyna Villasmil

    2013-09-01

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

  18. 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 ...

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

    OpenAIRE

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

    2016-01-01

    Background: Class IC antiarrhythmic agents may induce acquired forms of Brugada Syndrome. We have identified a novel mutation in SCN5A, the gene that encodes the α-subunit of the human cardiac sodium channel (hNav1.5), in a patient who exhibited Brugada- type ECG changes during pharmacotherapy of atrial arrhythmias. Objective: To assess whether the novel mutation p.V1328M can cause drug induced Brugada Syndrome. Methods: Administration of pilsicainide, a class IC antiarrhythmic agent, caused ...

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

    Directory of Open Access Journals (Sweden)

    Yashwant Agrawal

    2016-10-01

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

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

    Science.gov (United States)

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

    2016-06-01

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

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

    Science.gov (United States)

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

    2008-01-01

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

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

    NARCIS (Netherlands)

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

    2011-01-01

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

  4. Hyperkalemia Induced Brugada Phenocopy: A Rare ECG Manifestation

    Directory of Open Access Journals (Sweden)

    Muhammad Ameen

    2017-01-01

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

  5. Brugada-like electrocardiographic patterns induced by hyperkalemia.

    Science.gov (United States)

    Reingardienė, Dagmara; Vilčinskaitė, Jolita; Bilskienė, Diana

    2013-01-01

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

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

    NARCIS (Netherlands)

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

    1999-01-01

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

  7. A case of Plummer-Vinson syndrome in childhood.

    Science.gov (United States)

    Anthony, R; Sood, S; Strachan, D R; Fenwick, J D

    1999-10-01

    The Plummer-Vinson syndrome is characterized by an association of dysphagia, iron-deficiency anemia, and esophageal webs. The authors report the case of a 6 year old with Plummer-Vinson syndrome. Plummer-Vinson syndrome usually occurs in adults, rarely in adolescents, however, there have been no previous reports in the English-language literature of the syndrome occurring in childhood.

  8. Chronic Fatigue Syndrome (CFS): Childhood Adversity

    Science.gov (United States)

    ... reports of childhood abuse and neglect were investigated. Childhood trauma, defined as abuse, neglect, or loss, is a ... the lifespan. In various animal and human studies childhood trauma has been associated with low resting cortisol levels, ...

  9. Neurocognitive impairment in childhood chronic fatigue syndrome

    Directory of Open Access Journals (Sweden)

    Kei eMizuno

    2013-04-01

    Full Text Available Neurocognitive impairment is a feature of childhood chronic fatigue syndrome (CCFS. Several studies have demonstrated reduced attention control in CCFS patients in switching and divided attention tasks. In students, the extent of deterioration in task performance depends on the level of fatigue. Poor performance in switching and divided attention is common in both fatigued students and CCFS patients. Additionally, attentional functions show dramatic development from childhood to adolescence, suggesting that abnormal development of switching and divided attention may be induced by chronic fatigue. The brain structures associated with attentional control are situated in the frontal and parietal cortices, which are the last to mature, suggesting that severe fatigue in CCFS patients and students may inhibit normal structural and functional development in these regions. A combination of treatment with cognitive behavioral therapy and antidepressant medication is effective to improve attentional control processing in CCFS patients. Studies identifying the features of neurocognitive impairment in CCFS have improved our current understanding of the neurophysiological mechanisms of CCFS.

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

    DEFF Research Database (Denmark)

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

    2012-01-01

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

  11. Long-term Outcomes of Childhood Onset Nephrotic Syndrome

    OpenAIRE

    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, ...

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

    Directory of Open Access Journals (Sweden)

    Gema García García

    2013-03-01

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

  13. Childhood acne in a boy with XYY syndrome.

    Science.gov (United States)

    Kasparis, Christos; Loffeld, Annette

    2014-01-06

    A 3-year-old boy was referred to the dermatology department with a 12-month history of facial erythema associated with a papular-pustular facial eruption consistent with childhood acne. He had been diagnosed with XYY syndrome identified during genetic analysis for cardiac anomalies at birth. XYY syndrome is an aneuploidy of the sex chromosomes which affects 1 in 1000 male births. It is often asymptomatic and identified incidentally following genetic analysis for other conditions. The syndrome can be associated with an increased risk of learning difficulties and delayed language skills. Early diagnosis could alert physicians to the possibility of subtle developmental and learning abnormalities and result in prompt management. Our case highlights the fact that the presence of childhood acne could aid in the early detection of XYY syndrome.

  14. Childhood acne in a boy with XYY syndrome

    Science.gov (United States)

    Kasparis, Christos; Loffeld, Annette

    2014-01-01

    A 3-year-old boy was referred to the dermatology department with a 12-month history of facial erythema associated with a papular-pustular facial eruption consistent with childhood acne. He had been diagnosed with XYY syndrome identified during genetic analysis for cardiac anomalies at birth. XYY syndrome is an aneuploidy of the sex chromosomes which affects 1 in 1000 male births. It is often asymptomatic and identified incidentally following genetic analysis for other conditions. The syndrome can be associated with an increased risk of learning difficulties and delayed language skills. Early diagnosis could alert physicians to the possibility of subtle developmental and learning abnormalities and result in prompt management. Our case highlights the fact that the presence of childhood acne could aid in the early detection of XYY syndrome. PMID:24395875

  15. Genetic syndromes associated with overgrowth in childhood.

    Science.gov (United States)

    Ko, Jung Min

    2013-09-01

    Overgrowth syndromes comprise a diverse group of conditions with unique clinical, behavioral and molecular genetic features. While considerable overlap in presentation sometimes exists, advances in identification of the precise etiology of specific overgrowth disorders continue to improve clinicians' ability to make an accurate diagnosis. Among them, this paper introduces two classic genetic overgrowth syndromes: Sotos syndrome and Beckwith-Wiedemann syndrome. Historically, the diagnosis was based entirely on clinical findings. However, it is now understood that Sotos syndrome is caused by a variety of molecular genetic alterations resulting in haploinsufficiency of the NSD1 gene at chromosome 5q35 and that Beckwith-Wiedemann syndrome is caused by heterogeneous abnormalities in the imprinting of a number of growth regulatory genes within chromosome 11p15 in the majority of cases. Interestingly, the 11p15 imprinting region is also associated with Russell-Silver syndrome which is a typical growth retardation syndrome. Opposite epigenetic alterations in 11p15 result in opposite clinical features shown in Beckwith-Wiedemann syndrome and Russell-Silver syndrome. Although the exact functions of the causing genes have not yet been completely understood, these overgrowth syndromes can be good models to clarify the complex basis of human growth and help to develop better-directed therapies in the future.

  16. Obesity and Metabolic Syndrome Among Adult Survivors of Childhood Leukemia.

    Science.gov (United States)

    Gibson, Todd M; Ehrhardt, Matthew J; Ness, Kirsten K

    2016-04-01

    Treatment-related obesity and the metabolic syndrome in adult survivors of childhood acute lymphoblastic leukemia (ALL) are risk factors for cardiovascular disease. Both conditions often begin during therapy. Preventive measures, including dietary counseling and tailored exercise, should be initiated early in the course of survivorship, with referral to specialists to optimize success. However, among adults who develop obesity or the metabolic syndrome and who do not respond to lifestyle therapy, medical intervention may be indicated to manage underlying pathology, such as growth hormone deficiency, or to mitigate risk factors of cardiovascular disease. Because no specific clinical trials have been done in this population to treat metabolic syndrome or its components, clinicians who follow adult survivors of childhood ALL should use the existing American Heart Association/National Heart Lung and Blood Institute Scientific Statement to guide their approach.

  17. 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.

  18. Two epileptic syndromes, one brain: childhood absence epilepsy and benign childhood epilepsy with centrotemporal spikes.

    Science.gov (United States)

    Cerminara, Caterina; Coniglio, Antonella; El-Malhany, Nadia; Casarelli, Livia; Curatolo, Paolo

    2012-01-01

    Childhood absence epilepsy (CAE) and benign childhood epilepsy with centrotemporal spikes (BCECTS), or benign rolandic epilepsy (BRE), are the most common forms of childhood epilepsy. CAE and BCECTS are well-known and clearly defined syndromes; although they are strongly dissimilar in terms of their pathophysiology, these functional epileptic disturbances share many features such as similar age at onset, overall good prognosis, and inheritance factors. Few reports are available on the concomitance of CAE and BCECTS in the same patients or the later occurrence of generalized epilepsy in patients with a history of partial epilepsy. In most cases described in the literature, absence seizures always started after the onset of benign focal epilepsy but the contrary has never occurred yet. We describe two patients affected by idiopathic generalized epileptic syndrome with typical absences, who experienced BCECTS after remission of seizures and normalization of EEG recordings. While the coexistence of different seizure types within an epileptic syndrome is not uncommon, the occurrence of childhood absence and BCECTS in the same child appears to be extremely rare, and this extraordinary event supports the hypothesis that CAE and BCECTS are two distinct epileptic conditions. However, recent interesting observations in animal models suggest that BCECTS and CAE could be pathophysiologically related and that genetic links could play a large role.

  19. 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

  20. SAPHO syndrome in childhood. A case report.

    Science.gov (United States)

    Vargas Pérez, Manuel; Sevilla Pérez, Belén

    2016-12-16

    The acronym of SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis and osteitis) combines a cluster of cutaneous and musculoskeletal manifestations, such as hyperostosis of bones of the anterior chest wall associated with acne fulminans and hidradenitis suppurativa. There are no validated diagnostic criteria in children. Nonsteroidal anti-inflammatory drugs are not always sufficient, and the use of corticosteroids, disease-modifying agents, tumor necrosis factor-α inhibitors or bisphosphonates may be necessary. We present the case of a child with polyarticular involvement, osteoarthritis of the sternoclavicular joint with severe inflammatory disorders and acne conglobata, with an excellent response to intravenous pamidronate.

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

    Science.gov (United States)

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

    2017-01-01

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

  2. 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

  3. 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.

  4. Levamisole for steroid-dependent nephrotic syndrome of childhood

    Directory of Open Access Journals (Sweden)

    Hadadi M

    2008-06-01

    Full Text Available Background: Childhood nephrotic syndrome is frequently characterized by a relapsing course. Due to their adverse effects, the use of corticosteroids for the management of frequently relapsing nephrotic syndrome is limited. Levamisole, a steroid sparing agent, has been found to have low toxicity. This study was conducted to evaluate the efficacy of levamisole in steroid-sensitive nephrotic syndrome (SDNS.  Methods: In this retrospective study from January 1988 to September 2006, we included data from 305 pediatric SDNS patients at the Children's Medical Center clinics in Tehran, Iran. Nephrotic syndrome was diagnosed using classic criteria. None of the patients had any signs or symptoms of secondary causes of nephrotic syndrome. All had received prednisolone 60 mg/m2/day. After remission, prednisolone administration was reduced to every other day and the steroid was tapered over the next three months. With every recurrence, prednisolone was prescribed with the same dosage, but after remission it was continued at a lower dosage for another six months or longer if there was risk of recurrence. Levamisole was administered to all patients at a dose of 2 mg/kg every other day.          Results: Patients ranged in age from 1 to 20 years (mean±SD: 4.84 ±3.1 and 70.8% were male. At the last follow up, 84 (27.5% were in remission, while 220 (72.1% patients had relapsed or needed a low dose of steroid. Levamisole was effective in reducing the prednisolone dosage and long-term remission in 68 (22.3% and 90 (29.5% cases, respectively. A comparison of before vs. after levamisole treatment revealed a had significant decrease in the number of relapses (2.05±0.88 vs. 1.1±1.23; P<0.0001 and the prednisolone dosage (0.74±0.39 vs. 0.32±0.38 mg/kg/day; P<0.0001. Only one patient developed levamisole-induced neutropenia. Conclusions: In childhood steroid-dependent nephrotic syndrome, levamisole is an efficacious, safe initial therapy in

  5. Genetics of childhood steroid-sensitive nephrotic syndrome.

    Science.gov (United States)

    Karp, Alana M; Gbadegesin, Rasheed A

    2016-07-29

    The pathogenesis of childhood-onset nephrotic syndrome (NS), disparity in incidence of NS among races, and variable responses to therapies in children with NS have defied explanation to date. In the last 20 years over 50 genetic causes of steroid-resistant nephrotic syndrome (SRNS) have been identified, and at least two disease loci for two pathologic variants of SRNS (focal segmental glomerulosclerosis and membranous nephropathy) have been defined. However, the genetic causes and risk loci for steroid-sensitive nephrotic syndrome (SSNS) remain elusive, partly because SSNS is relatively rare and also because cases of SSNS vary widely in phenotypic expression over time. A recent study of a well-defined modest cohort of children with SSNS identified variants in HLA-DQA1 as a risk factor for SSNS. Here we review what is currently known about the genetics of SSNS and also discuss how recent careful phenotypic and genomic studies reinforce the role of adaptive immunity in the molecular mechanisms of SSNS.

  6. 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...

  7. 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.

  8. Tourette syndrome and other tic disorders of childhood.

    Science.gov (United States)

    Tamara, Pringsheim

    2013-01-01

    Tourettte syndrome (TS) is a common, childhood onset neuropsychiatric disorder consisting of multiple motor and one or more vocal tics which persist for more than 1 year. Comorbid psychiatric diagnoses are frequent in this patient population, including attention-deficit/hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD). Tics can be simple or complex, and have a tendency to change over time. Tics are preceded by a premonitory sensation, wax and wane in frequency, and are often exacerbated by stress or excitement. Tic severity usually peaks in childhood, and improves in early adulthood. TS is a highly heritable disorder with a polygenic inheritance. The fundamental pathophysiology of TS is not known, although existing evidence suggests that it involves dysfunction of the basal ganglia and frontal cortical circuits, as well as dopaminergic neurotransmission. Treatment of TS involves consideration of symptom severity and comorbidity. In general, comorbid ADHD and OCD lead to greater disability in these patients, and therefore are the initial treatment priority. As treatment for tics does not alter the natural history of the disorder, it is only recommended if the tics are causing disability. Effective treatments to suppress tics include α-adrenergic agonists and antipsychotic medications.

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

    Directory of Open Access Journals (Sweden)

    Filippo Maria Cauti

    2016-09-01

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

  10. 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.

  11. 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...

  12. Reciprocal Regulation of 11β-HSDs May Predict Steroid Sensitivity in Childhood Nephrotic Syndrome.

    Science.gov (United States)

    Sai, Shuji; Yamamoto, Masaki; Yamaguchi, Rie; Chapman, Karen E; Hongo, Teruaki

    2016-09-01

    Childhood nephrotic syndrome, in which steroid-dependence occurs concurrently with steroid-resistance, requires aggressive therapy to prevent relapse. Predictive biomarkers that can be used to stratify treatment are urgently needed. Here we report that reciprocal regulation of the glucocorticoid metabolizing enzymes, 11β-hydroxysteroid dehydrogenase types 1 and 2, is associated with steroid-responsiveness and disease remission in childhood nephrotic syndrome, potentially providing a marker to identify patients in which aggressive therapy is required.

  13. 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

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

    Science.gov (United States)

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

    2013-09-01

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

  15. Auriculotemporal (Frey) syndrome in late childhood: an unusual variant presenting as gustatory flushing mimicking food allergy.

    Science.gov (United States)

    Kaddu, S; Smolle, J; Komericki, P; Kerl, H

    2000-01-01

    Auriculotemporal or Frey syndrome is characterized mainly by recurrent episodes of facial gustatory flushing and/or sweating, limited to the cutaneous distribution of the auriculotemporal nerve. Although relatively common in adults following injury to the auriculotemporal nerve or parotid disease, the condition has rarely been reported in children. Moreover, in childhood, auriculotemporal syndrome has been described mainly in infancy and early childhood as a sequel of perinatal birth trauma resulting from assisted forceps delivery. We report a 13-year-old girl with a 2-month history of recurrent, painless, preauricular gustatory flushing without sweating, initially suspected to be a food allergy. Detailed inquiry revealed a history of a bicycle accident with mandibular condyle fracture 7 years prior to the onset of symptoms. Our patient demonstrates an unusual presentation of auriculotemporal syndrome in late childhood as gustatory flushing mimicking food allergy. Awareness of this variant is essential for prompt recognition, thus avoiding unnecessary laboratory tests, especially as this condition usually resolves spontaneously.

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

    Institute of Scientific and Technical Information of China (English)

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

    2015-01-01

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

  17. Cushing’s syndrome in childhood: update on genetics, treatment, and outcomes

    Science.gov (United States)

    Lodish, Maya

    2015-01-01

    Purpose of review To provide an update on the genes associated with Cushing’s syndrome in children, as well as to familiarize the clinician with recent treatment guidelines and outcome data for children with Cushing’s syndrome. Recent findings The list of genes associated with Cushing’s syndrome continues to grow. In addition, treatment for childhood Cushing’s syndrome is evolving. As long-term follow-up data on children becomes available, clinicians need to be aware of the issues that require attention. Summary Knowledge of the specific genetic causes of Cushing’s syndrome has potential implications for treatment, surveillance, and counseling. Advances in surgical technique, radiation modalities, and medical therapies offer the potential for additional treatment options in Cushing’s syndrome. Early identification and management of post-treatment morbidities in children treated for Cushing’s syndrome is crucial in order to optimize care. PMID:25517021

  18. Autonomic dysfunction in childhood Guillain-Barré syndrome.

    Science.gov (United States)

    Dimario, Francis J; Edwards, Carrie

    2012-05-01

    This investigation correlated incidence and degree of autonomic dysfunction with the degree of motor impairment in children hospitalized with Guillain-Barré syndrome. Motor weakness varies, as does the effect on autonomic function including heart rate, vasomotor stability, sweating, continence, and blood pressure. After Institutional Review Board approval, hospitalized patients with Guillain-Barré syndrome syndrome.

  19. 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 childhoo...

  20. Childhood maltreatment and the response to cognitive behavior therapy for chronic fatigue syndrome.

    NARCIS (Netherlands)

    Heins, M.J.; Knoop, H.; Lobbestael, J.; Bleijenberg, G.

    2011-01-01

    Objective: To examine the relationship between a history of childhood maltreatment and the treatment response to cognitive behavior therapy for chronic fatigue syndrome (CFS). Methods: A cohort study in a tertiary care clinic with a referred sample of 216 adult patients meeting the Centers for Disea

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

    Institute of Scientific and Technical Information of China (English)

    冯莉; 马克娟; 李新; 刘彤; 董建增; 马长生

    2016-01-01

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

  2. 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....

  3. 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…

  4. 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

  5. [Multi-organ failure as first clinical sign of macrophage activation syndrome in childhood Still's disease].

    Science.gov (United States)

    López-Sánchez, M; Rubio-López, I; Obeso-González, T; Teja-Barbero, J L; Santidrián-Miguel, J P; Peiro-Callizo, E

    2010-10-01

    Macrophage activation syndrome is a form of secondary haemophagocytic lymphohistiocytosis seen in the context of rheumatic diseases. It is seen most frequently in association with systemic onset juvenile arthritis or childhood Still's disease. Hemophagocytosis is part of a sepsis-like clinical syndrome caused by hypercytokinemia due to a highly stimulated but ineffective immune response. Coagulopathy and hemorrhages, decreased white cell count, elevated levels of aspartate aminotransferase, fever, rash, hepatosplenomegaly and central nervous system dysfunction are some of diagnostic criteria of macrophage activation syndrome, but it is very difficult to diagnose due to the lack of specific clinical signs. We report a 8-year-old child who was admitted to the ICU with lethargy, fever, acute respiratory failure, coagulopathy, metabolic acidosis and multiorgan failure. Septic shock was suspected, but he was diagnosed with macrophage activation syndrome and treated with corticosteroids and intravenous immunoglobulin and later discharged from the ICU.

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

    Science.gov (United States)

    Reisi, Nahid; Azhir, Afshin; Hashemipour, Mahin; Raeissi, Pouran; Amini, Abasgholi; Moafi, Alireza

    2009-01-01

    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 cross-sectional study. Metabolic syndrome was defined using the modified version of Adult Treatment Panel (ATP III) crite-ria. 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 positively 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. PMID:21772869

  7. Epidemiology of childhood leukemia in the presence and absence of Down syndrome.

    Science.gov (United States)

    Mezei, Gabor; Sudan, Madhuri; Izraeli, Shai; Kheifets, Leeka

    2014-10-01

    Down syndrome (DS) is a common congenital anomaly, and children with DS have a substantially higher risk of leukemia. Although understanding of genetic and epigenetic changes of childhood leukemia has improved, the causes of childhood leukemia and the potential role of environmental exposures in leukemogenesis remain largely unknown. Although many epidemiologic studies have examined a variety of environmental exposures, ionizing radiation remains the only generally accepted environmental risk factor for childhood leukemia. Among suspected risk factors, infections, exposure to pesticides, and extremely low frequency magnetic fields are notable. While there are well-defined differences between leukemia in children with and without DS, studies of risk factors for leukemia among DS children are generally consistent with trends seen among non-DS (NDS) children. We provide background on DS epidemiology and review the similarities and differences in biological and epidemiologic features of leukemia in children with and without DS. We propose that both acute lymphoblastic and acute myeloblastic leukemia among DS children can serve as an informative model for development of childhood leukemia. Further, the high rates of leukemia among DS children make it possible to study this disease using a cohort approach, a powerful method that is unfeasible in the general population due to the rarity of childhood leukemia.

  8. Behaviour Problems and Adults with Down Syndrome: Childhood Risk Factors

    Science.gov (United States)

    McCarthy, J.

    2008-01-01

    Background: Studies of people with intellectual disability suggest that several individual characteristics and environmental factors are associated with behaviour disorder. To date there are few studies looking at risk factors within specific syndromes and the relationship between early risk markers and later behaviour disorder. The key aim of the…

  9. 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…

  10. 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...

  11. 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 component…

  12. 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.

  13. [Parsonage-Turner syndrome in childhood and adolescence: case report].

    Science.gov (United States)

    Pérez-de la Cruza, Sagrario

    2012-10-01

    We present the case of a 17-year-old male whose diagnosis is Parsonage-Turner syndrome relapsing in the right arm. In his medical record, he was diagnosed as having amyotrophic neuralgia of the upper limb in three previous occasions. The diagnosis was similar in all episodes, although the affected upper limb was alternating. He was treated in the Rehabilitation Services of two hospitals. At physical examination, in every relapse, he showed acute pain in both, shoulder and arm, and loss of strength in the shoulder blade and the affected upper limb. The aim of his treatment combines the healing of the pain and, together with physiotherapy, fighting against muscular atrophy. The patient evolved favourably in each of the episodes. Nowadays, he does not show any symptom, and he has been discharged from the rehabilitation service.

  14. Disruption of PTPRO Causes Childhood-Onset Nephrotic Syndrome

    Science.gov (United States)

    Ozaltin, Fatih; Ibsirlioglu, Tulin; Taskiran, Ekim Z.; Baydar, Dilek Ertoy; Kaymaz, Figen; Buyukcelik, Mithat; Kilic, Beltinge Demircioglu; Balat, Ayse; Iatropoulos, Paraskevas; Asan, Esin; Akarsu, Nurten A.; Schaefer, Franz; Yilmaz, Engin; Bakkaloglu, Ayşin

    2011-01-01

    Idiopathic nephrotic syndrome (INS) is a genetically heterogeneous group of disorders characterized by proteinuria, hypoalbuminemia, and edema. Because it typically results in end-stage kidney disease, the steroid-resistant subtype (SRNS) of INS is especially important when it occurs in children. The present study included 29 affected and 22 normal individuals from 17 SRNS families; genome-wide analysis was performed with Affymetrix 250K SNP arrays followed by homozygosity mapping. A large homozygous stretch on chromosomal region 12p12 was identified in one consanguineous family with two affected siblings. Direct sequencing of protein tyrosine phosphatase receptor type O (PTPRO; also known as glomerular epithelial protein-1 [GLEPP1]) showed homozygous c.2627+1G>T donor splice-site mutation. This mutation causes skipping of the evolutionarily conserved exon 16 (p.Glu854_Trp876del) at the RNA level. Immunohistochemistry with GLEPP1 antibody showed a similar staining pattern in the podocytes of the diseased and control kidney tissues. We used a highly polymorphic intragenic DNA marker—D12S1303—to search for homozygosity in 120 Turkish and 13 non-Turkish individuals in the PodoNet registry. This analysis yielded 17 candidate families, and a distinct homozygous c.2745+1G>A donor splice-site mutation in PTPRO was further identified via DNA sequencing in a second Turkish family. This mutation causes skipping of exon 19, and this introduces a premature stop codon at the very beginning of exon 20 (p.Asn888Lysfs∗3) and causes degradation of mRNA via nonsense-mediated decay. Immunohistochemical analysis showed complete absence of immunoreactive PTPRO. Ultrastructural alterations, such as diffuse foot process fusion and extensive microvillus transformation of podocytes, were observed via electron microscopy in both families. The present study introduces mutations in PTPRO as another cause of autosomal-recessive nephrotic syndrome. PMID:21722858

  15. Angelman syndrome: Mutations influence features in early childhood.

    Science.gov (United States)

    Tan, Wen-Hann; Bacino, Carlos A; Skinner, Steven A; Anselm, Irina; Barbieri-Welge, Rene; Bauer-Carlin, Astrid; Beaudet, Arthur L; Bichell, Terry Jo; Gentile, Jennifer K; Glaze, Daniel G; Horowitz, Lucia T; Kothare, Sanjeev V; Lee, Hye-Seung; Nespeca, Mark P; Peters, Sarika U; Sahoo, Trilochan; Sarco, Dean; Waisbren, Susan E; Bird, Lynne M

    2011-01-01

    Angelman syndrome (AS) is a neurodevelopmental disorder caused by a lack of expression of the maternal copy of UBE3A. Although the "classic" features of AS are well described, few large-scale studies have delineated the clinical features in AS. We present baseline data from 92 children with a molecular diagnosis of AS between 5 and 60 months old who are enrolled in the National Institutes of Health Rare Diseases Clinical Research Network Angelman Syndrome Natural History Study from January 2006 to March 2008. Seventy-four percent of participants had deletions, 14% had either uniparental disomy (UPD) or imprinting defects, and 12% had UBE3A mutations. Participants with UPD/imprinting defects were heavier (P = 0.0002), while those with deletions were lighter, than the general population (P < 0.0001). Twenty out of 92 participants were underweight, all of whom had deletions or UBE3A mutations. Eight out of 92 participants (6/13 (46%) with UPD/imprinting defects and 2/11 (18%) with UBE3A mutations) were obese. Seventy-four out of 92 participants (80%) had absolute or relative microcephaly. No participant was macrocephalic. The most common behavioral findings were mouthing behavior (95%), short attention span (92%), ataxic or broad-based gait (88%), history of sleep difficulties (80%), and fascination with water (75%). Frequent, easily provoked laughter was observed in 60%. Clinical seizures were reported in 65% of participants but all electroencephalograms (EEGs) were abnormal. We conclude that the most characteristic feature of AS is the neurobehavioral phenotype, but specific EEG findings are highly sensitive for AS. Obesity is common among those with UPD/imprinting defects.

  16. Stress and obesity/metabolic syndrome in childhood and adolescence.

    Science.gov (United States)

    Pervanidou, Panagiota; Chrousos, George P

    2011-09-01

    Chronic distress contributes to the development of obesity and comorbid states. Stress is the disturbance of the complex dynamic equilibrium that all organisms must maintain, and is associated with activation of the Stress system comprising of the hypothalamic-pituitary-adrenal axis and the arousal/sympathetic nervous systems. The stress system functions in a baseline circadian fashion and interacts with other systems of the organism to regulate a variety of behavioral, endocrine, metabolic, immune and cardiovascular functions. The experience of perceived or real uncontrollable intense and/or chronic stress (distress) may lead to several psychopathologic conditions, including anxiety, depressive and psychosomatic disorders, substance abuse, obesity and the metabolic syndrome, and osteoporosis, as well as impaired reproductive and immune functions. Developing children and adolescents are particularly vulnerable to the effects of chronic stress. Both behavioral and biological pathways are involved in the connection between chronic stress and obesity in adults and children. Emotional "comfort" eating, lack of sleep, impulsive behaviours and selection of specific foods often characterize stressed individuals. In addition to specific behaviours, dysregulation of the stress system through increased secretion of cortisol and catecholamines, especially in the evening hours, and in concert with concurrently elevated insulin concentrations, leads to development of central obesity, insulin resistance and the metabolic syndrome. In children, chronic alterations in cortisol secretion may have additional effects on cognitive and emotional development, timing of puberty and final stature. Obese children and adolescents are frequently entangled in a vicious cycle between distress, impairing self-image and distorted self-image, maintaining and worsening distress.

  17. 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.

  18. Second-Line Immunosuppressive Treatment of Childhood Nephrotic Syndrome: A Single-Center Experience

    Directory of Open Access Journals (Sweden)

    J. Kim

    2014-01-01

    Full Text Available Objective: Most cases of idiopathic nephrotic syndrome in childhood are responsive to corticosteroids. However, there is a small group of children that demonstrate steroid resistance (steroid-resistant nephrotic syndrome; SRNS, steroid dependence, or that frequently relapse (frequent-relapse steroid-sensitive nephrotic syndrome; FR-SSNS which are more clinically difficult to treat. Therefore, second-line immunosuppressants, such as alkylating agents, calcineurin inhibitors, antimetabolites and, more recently, rituximab, have been used with varying success. The objective was to evaluate the response rates of various second-line therapies in the treatment of childhood nephrotic syndrome. Study Design: A retrospective chart review of pediatric subjects with idiopathic nephrotic syndrome was conducted at a single tertiary care center (2007-2012. Drug responses were classified as complete response, partial response, and no response. Results: Of the 188 charts reviewed, 121 children were classified as SSNS and 67 children as SRNS; 58% were classified as FR-SSNS. Sixty-five subjects were diagnosed with focal segmental glomerulosclerosis via biopsy. Follow-up ranged from 6 months to 21 years. The combined rate of complete and partial response for mycophenolate mofetil (MMF was 65% (33/51 in SSNS and 67% (6/9 in SRNS. For tacrolimus, the response rate was 96% (22/23 for SSNS and 77% (17/22 for SRNS. Eighty-three percent (5/6 of SSNS subjects treated with rituximab went into complete remission; 60% relapsed after B-cell repletion. Eight refractory subjects were treated with combined MMF/tacrolimus/corticosteroid therapy with a 75% response rate. Conclusion: Our experience demonstrates that older medications can be replaced with newer ones such as MMF, tacrolimus, and rituximab with good outcomes and better side effect profiles. The treatment of refractory cases with combination therapy is promising.

  19. 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.

  20. Genetic susceptibility to obesity and metabolic syndrome in childhood

    Directory of Open Access Journals (Sweden)

    Concepción M. Aguilera

    2013-09-01

    Full Text Available Obesity is one of the major public health problems worldwide. It is a chronic, complex, and multifactorial-origin disease characterised by body fat excess mainly due to an imbalance between dietary intake and energy expenditure. One of the major complications of obesity is metabolic syndrome, which comprises anthropometrical, clinical, and metabolic dysfunctions that predispose the affected individual to the development of type 2 diabetes mellitus and cardiovascular diseases. It is hypothesised that the variability in the susceptibility to obesity-mediated metabolic complications involves both environmental and genetic factors. Whereas advances in the knowledge of the variations in the human genome have led to the identification of susceptibility genes that contribute to obesity and related disorders, relatively few studies have specifically focused on the interactions between obesity and genetic polymorphisms and the development of metabolic complications. Despite these limited efforts, an increasing amount of evidence suggests that the effects of some gene variants on metabolic traits are modified by or present only in the setting of obesity. Furthermore, some of these loci may have larger effects on metabolic phenotypes in the presence of certain dietary or lifestyle factors. In the present manuscript, we reviewed the genes and their variants that have been evidenced to play a role in obesity-associated metabolic complications through genetic association studies, including candidate gene and genome-wide association approaches in adults and children.

  1. Genetic susceptibility to obesity and metabolic syndrome in childhood.

    Science.gov (United States)

    Aguilera, Concepción M; Olza, Josune; Gil, Angel

    2013-09-01

    Obesity is one of the major public health problems worldwide. It is a chronic, complex, and multifactorial origin disease characterised by body fat excess mainly due to an imbalance between dietary intake and energy expenditure. One of the major complications of obesity is metabolic syndrome, which comprises anthropometrical, clinical, and metabolic dysfunctions that predispose the affected individual to the development of type 2 diabetes mellitus and cardiovascular diseases. It is hypothesised that the variability in the susceptibility to obesity-mediated metabolic complications involves both environmental and genetic factors. Whereas advances in the knowledge of the variations in the human genome have led to the identification of susceptibility genes that contribute to obesity and related disorders, relatively few studies have specifically focused on the interactions between obesity and genetic polymorphisms and the development of metabolic complications. Despite these limited efforts, an increasing amount of evidence suggests that the effects of some gene variants on metabolic traits are modified by or present only in the setting of obesity. Furthermore, some of these loci may have larger effects on metabolic phenotypes in the presence of certain dietary or lifestyle factors. In the present manuscript, we reviewed the genes and their variants that have been evidenced to play a role in obesity-associated metabolic complications through genetic association studies, including candidate gene and genome-wide association approaches in adults and children.

  2. Neurologic complications of cerebral angiography in childhood moyamoya syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Robertson, R.L.; Chavali, R.V.; Robson, C.D.; Barnes, P.D.; Burrows, P.E. [Department of Radiology, Children`s Hospital Medical Center, Boston, MA (United States); Eldredge, E.A. [Department of Anesthesia, Children`s Hospital Medical Center and Harvard Medical School, Boston, MA (United States); Scott, R.M. [Department of Neurosurgery, Children`s Hospital Medical Center and Harvard Medical School, Boston, MA (United States)

    1998-11-01

    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.) With 8 tabs., 37 refs.

  3. 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

  4. A CLINICAL STUDY TO EVALUATE THE ROLE OF AKSHITARPANA, SHIRODHARA AND AN AYURVEDIC COMPOUND IN CHILDHOOD COMPUTER VISION SYNDROME

    Directory of Open Access Journals (Sweden)

    Singh Omendra Pal

    2011-03-01

    Full Text Available Computer vision syndrome is one among the lifestyle disorders in children. About 88% of people who use computers everyday suffer from this problem and children are no exception. Computer Vision Syndrome (CVS is the complex of eye and vision problems related to near works which are experienced during the use of Video Display Terminals (TV and computers. Therefore, considering these prospects a randomized double blind placebo control study was conducted among 40 clinically diagnosed children (5-15 years age group of computer Vision Syndrome to evaluate the role of akshitarpana, shirodhara and an ayurvedic compound in childhood computer vision syndrome.

  5. Epidemiology of childhood Guillain-Barré syndrome as a cause of acute flaccid paralysis in Honduras: 1989-1999.

    Science.gov (United States)

    Molinero, Marco R; Varon, Daniel; Holden, Kenton R; Sladky, John T; Molina, Ida B; Cleaves, Francisco

    2003-11-01

    The objective of this study was to investigate the incidence of acute flaccid paralysis in the pediatric population of Honduras over an 11-year period, determine what percentage of acute flaccid paralysis was Guillain-Barré syndrome, and identify the epidemiologic features of Guillain-Barré syndrome. There were 546 childhood cases of acute flaccid paralysis seen between January 1989 and December 1999 at the Hospital Escuela Materno-Infantil in Tegucigalpa, Honduras. Of these cases with acute flaccid paralysis, 394 (72.2%) were diagnosed with Guillain-Barré syndrome. Our incidence of Guillain-Barré syndrome in the Honduran pediatric population (1.37/100,000 per year) is higher than that shown in other studies. There was a significantly higher incidence of Guillain-Barré syndrome in younger children (ages 1-4 years), a significant preponderance of cases from rural areas, and a mild predominance in boys but a typical clinical presentation. The Honduran pediatric Guillain-Barré syndrome population had an increased mortality rate. Guillain-Barré syndrome has become the leading cause of childhood paralysis in Honduras. A better understanding of the population at highest risk and opportunities for earlier intervention with more effective therapeutic modalities may permit reducing the mortality among Honduran children who develop Guillain-Barré syndrome.

  6. 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

  7. Complex karyotype newly defined: the strongest prognostic factor in advanced childhood myelodysplastic syndrome.

    Science.gov (United States)

    Göhring, Gudrun; Michalova, Kyra; Beverloo, H Berna; Betts, David; Harbott, Jochen; Haas, Oskar A; Kerndrup, Gitte; Sainati, Laura; Bergstraesser, Eva; Hasle, Henrik; Stary, Jan; Trebo, Monika; van den Heuvel-Eibrink, Marry M; Zecca, Marco; van Wering, Elisabeth R; Fischer, Alexandra; Noellke, Peter; Strahm, Brigitte; Locatelli, Franco; Niemeyer, Charlotte M; Schlegelberger, Brigitte

    2010-11-11

    To 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 complexity. Structurally complex constitutes a new definition of complex karyotype characterized by more than or equal to 3 chromosomal aberrations, including at least one structural aberration. Five-year overall survival in patients with more than or equal to 3 clonal aberrations, which were not structurally complex, did not differ from that observed in patients with normal karyotype. Cox regression analysis revealed the presence of a monosomal and structurally complex karyotype to be strongly associated with poor prognosis (hazard ratio = 4.6, P < .01). Notably, a structurally complex karyotype without a monosomy was associated with a very short 2-year overall survival probability of only 14% (hazard ratio = 14.5; P < .01). The presence of a structurally complex karyotype was the strongest independent prognostic marker predicting poor outcome in children with advanced myelodysplastic syndrome.

  8. Brugada syndrome unmasked by accidental inhalation of gasoline vapors

    DEFF Research Database (Denmark)

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

    2007-01-01

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

  9. A case of childhood stiff-person syndrome with striatal lesions: a possible entity distinct from the classical adult form.

    Science.gov (United States)

    Sanefuji, Masafumi; Torisu, Hiroyuki; Kira, Ryutaro; Yamashita, Hiroshi; Ejima, Kazuna; Shigeto, Hiroshi; Takada, Yui; Yoshida, Keiko; Hara, Toshiro

    2013-06-01

    Parainfectious or autoimmune striatal lesions have been repeatedly described in children. We report a 7-year-old girl with painful muscle spasms, leading to the diagnosis of childhood stiff-person syndrome (SPS). Striatal lesions were demonstrated by diffusion-weighted magnetic resonance imaging (MRI) and single-photon emission computed tomography but not by conventional MRI. Autoantibodies against glutamic acid decarboxylase (GAD) were absent. Steroid pulse therapy and high-dose intravenous immunoglobulin resolved all the symptoms with slight sequelae. Childhood SPS may be characterized by absent anti-GAD antibodies and a transient benign clinical course, and it may have a pathomechanism distinct from that in adult SPS.

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

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    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.

  11. 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

  12. Transcranial Direct Current Stimulation for Treatment of Childhood Pharmacoresistant Lennox-Gastaut Syndrome; A Pilot Study

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    Narong eAuvichayapat

    2016-05-01

    Full Text Available Background: Lennox-Gastaut syndrome (LGS is a severe childhood epileptic syndrome with high pharmacoresistance. The treatment outcomes are still unsatisfied. Our previous study of cathodal transcranial direct current stimulation (tDCS in children with focal epilepsy showed significant reduction in epileptiform discharges. We hypothesized that cathodal tDCS when applied over the primary motor cortex (M1 combined with pharmacologic treatment will be more effective for reducing seizure frequency in patients with LGS than pharmacologic treatment alone. Material and Method: Study participants were randomized to receive either (1 pharmacologic treatment with 5-consecutive days of 2 mA cathodal tDCS over M1 for 20 min or (2 pharmacologic treatment plus sham tDCS. Measures of seizure frequency and epileptic discharges were performed before treatment and again immediately post-treatment and 1-, 2-, 3-, and 4-week follow-up. Result: Twenty two patients with LGS were enrolled. Participants assigned to the active tDCS condition reported significantly more pre- to post-treatment reductions in seizure frequency and epileptic discharges that were sustained for 3 weeks after treatment.Conclusion: Five consecutive days of cathodal tDCS over M1 combined with pharmacologic treatment appears to reduce seizure frequency and epileptic discharges. Further studies of the potential mechanisms of tDCS in the LGS are warranted.Trial Registration: ClinicalTrials.gov, NCT02731300 (https://register.clinicaltrials.gov.

  13. 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....

  14. Childhood Obesity: Common Misconceptions

    Science.gov (United States)

    ... of childhood obesity. Yes, hypothyroidism (a deficit in thyroid secretion) and other rarer and more severe genetic and metabolic disorders (eg, Prader-Willi syndrome, Turner syndrome, Cushing syndrome) ...

  15. Klinefelter syndrome: clinical and auxological features of 14 patients diagnosed in childhood

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    M.F. Messina

    2013-08-01

    Full Text Available Klinefelter syndrome (KS is the most frequent chromosomal aneuploidy with a prevalence of 1: 500 men but it often remains a largely undiagnosed condition and only 10% of cases are identified in childhood and adolescence. We report the anamnestic, clinical and auxological findings of 14 KS patients diagnosed in paediatric age. 3/14 patients (21% with KS were diagnosed in prenatal age by amniocentesis, 1 patient was diagnosed at birth due to genital ambiguity and the remaining 10/14 (71.4% were diagnosed at a chronological age younger than 15 years old for a clinical picture characterized by a peculiar cognitive and behavioral pattern or genital anomalies and abnormalities of pubertal development. The classical karyotype 47 XXY was present in 10/14 subjects (72%, a mosaic form (46 XY/47 XXY was present in 2/14 (14% and a complex aneuploidy (48 XXYY and 48 XXXY was present in the remaining 2/14 (14% patients. All KS patients diagnosed in childhood and adolescence (10/14 =71.4 % showed a stature taller than the respective target height and also the predicted final height (calculated from a chronological age older than 7 years old and the reached final height were significantly taller than target height. Conclusion: according to our retrospective data we can assert that KS in paediatric age is characterized by a stature taller than target height, often associated with a characteristic cognitive and behavioral pattern while the typical clinical signs and symptoms of KS are lacking and manifest only in late adolescence or adulthood.

  16. 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.

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

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    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

  18. 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…

  19. 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.

  20. 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

    2014-10-01

    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.

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

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    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.

  2. Prediction of Negative Conversion Days of Childhood Nephrotic Syndrome Based on the Improved Backpropagation Neural Network with Momentum

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    Yi-jun Liu

    2015-12-01

    Full Text Available Childhood nephrotic syndrome is a chronic disease harmful to growth of children. Scientific and accurate prediction of negative conversion days for children with nephrotic syndrome offers potential benefits for treatment of patients and helps achieve better cure effect. In this study, the improved backpropagation neural network with momentum is used for prediction. Momentum speeds up convergence and maintains the generalization performance of the neural network, and therefore overcomes weaknesses of the standard backpropagation algorithm. The three-tier network structure is constructed. Eight indicators including age, lgG, lgA and lgM, etc. are selected for network inputs. The scientific computing software of MATLAB and its neural network tools are used to create model and predict. The training sample of twenty-eight cases is used to train the neural network. The test sample of six typical cases belonging to six different age groups respectively is used to test the predictive model. The low mean absolute error of predictive results is achieved at 0.83. The experimental results of the small-size sample show that the proposed approach is to some degree applicable for the prediction of negative conversion days of childhood nephrotic syndrome.

  3. Low putamen activity associated with poor reward sensitivity in childhood chronic fatigue syndrome

    Directory of Open Access Journals (Sweden)

    Kei Mizuno, Ph.D.

    2016-01-01

    Full Text Available Motivational signals influence a wide variety of cognitive processes and components of behavioral performance. Cognitive dysfunction in patients with childhood chronic fatigue syndrome (CCFS may be closely associated with a low motivation to learn induced by impaired neural reward processing. However, the extent to which reward processing is impaired in CCFS patients is unclear. The aim of the present functional magnetic resonance imaging (fMRI study was to determine whether brain activity in regions related to reward sensitivity is impaired in CCFS patients. fMRI data were collected from 13 CCFS patients (mean age, 13.6 ± 1.0 years and 13 healthy children and adolescents (HCA (mean age, 13.7 ± 1.3 years performing a monetary reward task. Neural activity in high- and low-monetary-reward conditions was compared between CCFS and HCA groups. Severity of fatigue and the reward obtained from learning in daily life were evaluated by questionnaires. Activity of the putamen was lower in the CCFS group than in the HCA group in the low-reward condition, but not in the high-reward condition. Activity of the putamen in the low-reward condition in CCFS patients was negatively and positively correlated with severity of fatigue and the reward from learning in daily life, respectively. We previously revealed that motivation to learn was correlated with striatal activity, particularly the neural activity in the putamen. This suggests that in CCFS patients low putamen activity, associated with altered dopaminergic function, decreases reward sensitivity and lowers motivation to learn.

  4. Low putamen activity associated with poor reward sensitivity in childhood chronic fatigue syndrome.

    Science.gov (United States)

    Mizuno, Kei; Kawatani, Junko; Tajima, Kanako; Sasaki, Akihiro T; Yoneda, Tetsuya; Komi, Masanori; Hirai, Toshinori; Tomoda, Akemi; Joudoi, Takako; Watanabe, Yasuyoshi

    2016-01-01

    Motivational signals influence a wide variety of cognitive processes and components of behavioral performance. Cognitive dysfunction in patients with childhood chronic fatigue syndrome (CCFS) may be closely associated with a low motivation to learn induced by impaired neural reward processing. However, the extent to which reward processing is impaired in CCFS patients is unclear. The aim of the present functional magnetic resonance imaging (fMRI) study was to determine whether brain activity in regions related to reward sensitivity is impaired in CCFS patients. fMRI data were collected from 13 CCFS patients (mean age, 13.6 ± 1.0 years) and 13 healthy children and adolescents (HCA) (mean age, 13.7 ± 1.3 years) performing a monetary reward task. Neural activity in high- and low-monetary-reward conditions was compared between CCFS and HCA groups. Severity of fatigue and the reward obtained from learning in daily life were evaluated by questionnaires. Activity of the putamen was lower in the CCFS group than in the HCA group in the low-reward condition, but not in the high-reward condition. Activity of the putamen in the low-reward condition in CCFS patients was negatively and positively correlated with severity of fatigue and the reward from learning in daily life, respectively. We previously revealed that motivation to learn was correlated with striatal activity, particularly the neural activity in the putamen. This suggests that in CCFS patients low putamen activity, associated with altered dopaminergic function, decreases reward sensitivity and lowers motivation to learn.

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

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    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.

  6. 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…

  7. The CAST (Childhood Asperger Syndrome Test): preliminary development of a UK screen for mainstream primary-school-age children.

    Science.gov (United States)

    Scott, Fiona J; Baron-Cohen, Simon; Bolton, Patrick; Brayne, Carol

    2002-03-01

    The article describes a pilot and follow-up study of the preliminary development of a new tool to screen for Asperger syndrome (AS) and related social and communication conditions (the Childhood Asperger Syndrome Test, CAST) in children aged 4-11 years, in a non-clinical setting. In the pilot study, parents of 13 children with AS and of 37 typically developing children completed the CAST. There were significant differences between the AS and typical sample means. The pilot was used to establish preliminary cut-off scores for the CAST. In the main study, parents of 1150 primary-school-age children were sent the CAST, and 174 took part in the full data analysis. Results suggest that compared with other tools currently available, the CAST may be useful for identifying children at risk for AS and related conditions, in a mainstream non-clinical sample. Further research is ongoing.

  8. Long-term effects of oxandrolone treatment in childhood on neurocognition, quality of life and social-emotional functioning in young adults with Turner syndrome

    NARCIS (Netherlands)

    Freriks, K.; Verhaak, C.M.; Sas, T.C.; Menke, L.A.; Wit, J.M.; Otten, B.J.; Keizer-Schrama, S.M.; Smeets, D.F.C.M.; Netea-Maier, R.T.; Hermus, A.R.M.M.; Kessels, R.P.C.; Timmers, H.J.L.M.

    2015-01-01

    Turner syndrome (TS) is the result of (partial) absence of one X-chromosome. Besides short stature, gonadal dysgenesis and other physical aspects, TS women have typical psychological features. Since psychological effects of androgen exposure in childhood probably are long-lasting, we explored long-t

  9. Long-term effects of oxandrolone treatment in childhood on neurocognition, wellbeing and social-emotional functioning in young adults with Turner syndrome

    NARCIS (Netherlands)

    Freriks, K.; Verhaak, C.M.; Sas, T.C.J.; Menke, L.A.; Wit, J.M.; Otten, B.J.; Muinck Keizer-Schrama, S.M.P.F. de; Smeets, D.F.C.M.; Netea-Maier, R.T.; Hermus, A.R.M.M.; Kessels, R.P.C.; Timmers, H.J.L.M.

    2015-01-01

    Turner syndrome (TS) is the result of (partial) absence of one X-chromosome. Besides short stature, gonadal dysgenesis and other physical aspects, TS women have typical psychological features. Since psychological effects of androgen exposure in childhood probably are long-lasting, we explored long-t

  10. 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.

  11. Imprinted anomalies in fetal and childhood growth disorders: the model of Russell-Silver and Beckwith-Wiedemann syndromes.

    Science.gov (United States)

    Netchine, Irène; Rossignol, Sylvie; Azzi, Salah; Brioude, Fréderic; Le Bouc, Yves

    2012-01-01

    Fetal growth is a complex process. Its restriction is associated with morbidity and long term metabolic consequences. Imprinted genes have a critical role in mammalian fetal growth. The human chromosome 11p15 encompasses two imprinted domains regulated by their own differentially methylated region (DMR), also called Imprinted Control Region (ICR1 at the H19/IGF-2 domain, paternally methylated), and ICR2 at the KCNQ1/CDKN1C domain (maternally methylated). Loss of imprinting at these two domains is implicated in two growth disorders clinically opposite. A loss of DNA methylation (LOM) at ICR1 is identified in over 50% of patients with Russell-Silver syndrome (RSS), characterized by intrauterine and postnatal growth retardation, spared cranial growth, frequent body asymmetry and severe feeding difficulties. Inversely, a gain of methylation at ICR1 is found in 10% of patients with Beckwith-Wiedemann syndrome (BWS), an overgrowth syndrome with an enhanced childhood tumor risk. We have identified over 150 RSS patients with 11p15 LOM allowing long-term follow-up studies and proposal of clinical guidelines. We also found that ∼10% of RSS patients and ∼25% of BWS patients have multilocus LOM at imprinted regions other than ICR1 or ICR2 11p15, respectively. Recent studies have identified cis-acting regulatory elements and trans-acting factors involved in the regulation of 11p15 imprinting, establishing new potential mechanisms of RSS and BWS.

  12. Childhood obesity.

    Science.gov (United States)

    Seth, Anju; Sharma, Rajni

    2013-04-01

    Childhood obesity is an issue of serious medical and social concern. In developing countries including India, it is a phenomenon seen in higher socioeconomic strata due to the adoption of a western lifestyle. Consumption of high calorie food, lack of physical activity and increased screen time are major risk factors for childhood obesity apart from other genetic, prenatal factors and socio-cultural practices. Obese children and adolescents are at increased risk of medical and psychological complications. Insulin resistance is commonly present especially in those with central obesity and manifests as dyslipidemia, type 2 diabetes mellitus, impaired glucose tolerance, hypertension, polycystic ovarian syndrome and metabolic syndrome. Obese children and adolescents often present to general physicians for management. The latter play a key role in prevention and treatment of obesity as it involves lifestyle modification of the entire family. This article aims at discussing the approach to diagnosis and work-up, treatment and preventive strategies for childhood obesity from a general physician's perspective.

  13. Acquired Demyelinating Syndromes: Focus on Neuromyelitis Optica and childhood-onset Multiple Sclerosis

    NARCIS (Netherlands)

    E.D. van Pelt - Gravesteijn (Daniëlle)

    2016-01-01

    markdownabstractAcquired demyelinating syndromes (ADS) cover a broad spectrum of central nervous system (CNS) inflammatory demyelinating syndromes, of which multiple sclerosis (MS) is the most common subtype. This thesis focuses on two relatively rare clinical subtypes of ADS: neuromyelitis optica s

  14. 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…

  15. 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

    . 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, affecting vital......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...... 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 death syndrome...

  16. 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

    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 death syndrome......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, affecting vital...

  17. Childhood Tourette's syndrome and the Thematic Apperception Test: is there a recognizable pattern?

    Science.gov (United States)

    Wodrich, D L; Thull, L M

    1997-10-01

    26 children, one-half of whom were diagnosed with Tourette's syndrome, were administered the Thematic Apperception Test. A pilot investigation suggested that children with Tourette's syndrome produced high rates of responses in four categories: references to physical aggression, supernatural power, character names, and specific quantities. When compared with other children treated for emotional and behavioral problems at the same facility and matched on demographic variables and IQ, children with Tourette's syndrome were not more likely to produce Thematic Apperception Test responses in any of the four categories. This study shows that a recognizable pattern on projective testing was not easily established among these 13 children with Tourette's syndrome and further highlights the importance of using mental health comparison groups when investigating clinical disorders.

  18. 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.

  19. 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.

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

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    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.

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

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    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.

  2. A New Guidelines For Using Erythromycin In Management Of Childhood Cyclic Vomiting Syndrome

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    Mahmood Haghighat

    2016-11-01

    Full Text Available Cyclic vomiting syndrome (CVS is a functional disorder without any determined cause, though some motility disorders are considered in stream of this syndrome. There is no clear treatment for CVS and all treatments are borrowed from treatment of other similar diseases such as migraine. Clinical practice guideline instructs the pediatricians and pediatric gastroenterologists for treatment of CVS in both inpatient and outpatient settings. Since there is no practical guideline for the empirical management of CVS, this guideline was prepared for framing the treatments in a scienti­c and simple way for this disorder.

  3. Childhood Ataxia with Cerebral Hypomyelination (CACH syndrome: A study of three siblings

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    Vaidya Sachin

    2004-07-01

    Full Text Available We report a family of three siblings with Childhood Ataxia with Cerebral Hypomyelination. All the siblings presented with early onset cerebellar ataxia beginning around five years of age with mild mental retardation. MRI showed diffuse white matter signal changes in all three patients with cerebellar atrophy while the spectroscopy was abnormal only in the eldest who was the most severely affected. The cases are reported for their rarity as well as for an opportunity of observing this uncommon disease in its stages of evolution in three siblings.

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

    Science.gov (United States)

    2017-02-07

    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. Glucose transporter-1 (GLUT1) deficiency syndrome: diagnosis and treatment in late childhood.

    NARCIS (Netherlands)

    Gramer, G.; Wolf, N.I.; Vater, D.; Bast, T.; Santer, R.; Kamsteeg, E.J.; Wevers, R.A.; Ebinger, F.

    2012-01-01

    BACKGROUND: Typical cases of glucose transporter-1 deficiency syndrome (GLUT1-DS) present with early-onset epilepsy. We report symptoms, diagnostic results, and effects of therapy in two patients diagnosed with GLUT1-DS at the age of 10 and 15 years, respectively. PATIENTS: Patient 1: After four cer

  6. Quality of life in adults with childhood-onset of Complex Regional Pain Syndrome type I

    NARCIS (Netherlands)

    Tan, Edward C T H; van de Sandt-Renkema, Nienke; Krabbe, Paul F M; Aronson, Daniel C; Severijnen, René S V M

    2009-01-01

    INTRODUCTION: The clinical presentation of Complex Regional Pain Syndrome type I (CRPS I) in children differs compared to the presentation in adults. Reported results of treatment of CRPS I in children are usually more favourable and seem better than the reported treatment of adults with CRPS I. We

  7. Benign occipital epilepsy of childhood: Panayiotopoulos syndrome in a 3 year old child

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    Menon Narayanankutty Sunilkumar , Vadakut Krishnan Parvathy

    2014-11-01

    Full Text Available Panayiotopoulos syndrome (PS is a relatively frequent and benign epileptic syndrome seen in children in the age group of 3-6 years and is characterised by predominantly autonomic symptoms and/or simple motor focal seizures followed or not by impairment of consciousness. Although multifocal spikes with high amplitude sharp-slow wave complexes at various locations can be present in the EEG, interictal electroencephalogram (EEG in children with this particular type of epilepsy characteristically shows occipital spikes. This syndrome has known to be a masquerader and can imitate gastroenteritis, encephalitis, syncope, migraine, sleep disorders or metabolic diseases. In the absence of thorough knowledge of types of benign epilepsy syndromes and their various clinical presentations, epilepsy such as PS can be easily missed. The peculiar aspects of this type of epilepsy in children should be known not only by paediatricians but also by general doctors because a correct diagnosis would avoid aggressive interventions and concerns on account of its benign outcome. In this case study, we report a case of PS in a 3 year old child.

  8. 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…

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

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    Adriana Aparecida Siviero-Miachon

    2008-08-01

    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

  11. 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.

  12. 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.

  13. Effects of gluten-free, dairy-free diet on childhood nephrotic syndrome and gut microbiota.

    Science.gov (United States)

    Uy, Natalie; Graf, Lauren; Lemley, Kevin V; Kaskel, Frederick

    2015-01-01

    Emerging evidence suggests an association between food sensitivity and gut microbiota in children with nephrotic syndrome. Diminished proteinuria resulted from eliminating cow's milk and the use of an oligoantigenic diet which excluded gluten, especially in patients with immune-related conditions, i.e., celiac disease and nephrotic syndrome. The mechanisms underlying the association of diet, gut microbiota, and dysregulation of the immune system are unknown. Gut microbiota is influenced by a number of factors including diet composition and other environmental epigenetic exposures. The imbalance in gut microbiota may be ameliorated by gluten-free and dairy-free diets. Gluten-free diet increased the number of unhealthy bacteria while reducing bacterial-induced cytokine production of IL-10. Thus, gluten-free diet may influence the composition and immune function of gut microbiota and should be considered a possible environmental factor associated with immune-related disease, including nephrotic syndrome. Furthermore, the imbalance of gut microbiota may be related to the development of cow's milk protein allergy. Investigations are needed to fill the gaps in our knowledge concerning the associations between the gut microbiome, environmental exposures, epigenetics, racial influences, and the propensity for immune dysregulation with its inherent risk to the developing individual.

  14. Cyclosporin A acute encephalopathy and seizure syndrome in childhood: clinical features and risk of seizure recurrence.

    Science.gov (United States)

    Gleeson, J G; duPlessis, A J; Barnes, P D; Riviello, J J

    1998-07-01

    Cyclosporin A is associated with an acute encephalopathy including seizures and alterations in mental status, herein referred to as cyclosporin A acute encephalopathy and seizure syndrome. The clinical history, electroencephalogram (EEG), and neuroimaging findings in 19 children with cyclosporin A acute encephalopathy and seizure syndrome over a 10-year period were reviewed in order to delineate clinical characteristics, imaging features, and to determine the risk of seizure recurrence in this population. All 19 had motor seizures associated with other features of cortical and subcortical dysfunction. The acute mean cyclosporin A level was 342 microg/L, but was within the "therapeutic" range in five cases. Brain imaging by computed tomography (CT) or magnetic resonance imaging (MRI) in the acute or subacute phase revealed lesions characteristic of cyclosporin A toxicity in 14 cases. Acute EEG abnormalities were present in all and included epileptiform discharges or focal slowing. Patients were followed for a median of 49 months (1-9 years). Follow-up imaging (n = 10) showed lesion resolution or improvement in the majority while EEG (n = 10) had normalized in only three. Seizures recurred in six patients and only in those with persistent EEG or imaging abnormalities. No patient had a second episode of cyclosporin A associated neurotoxicity or seizure. It appears that a significant risk of seizure recurrence exists following cyclosporin A acute encephalopathy and seizure syndrome and primarily in those children with persistent EEG or imaging abnormalities.

  15. 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

  16. [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.

  17. 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.

  18. Glomerular Glucocorticoid Receptors Expression and Clinicopathological Types of Childhood Nephrotic Syndrome.

    Science.gov (United States)

    Gamal, Yasser; Badawy, Ahlam; Swelam, Salwa; Tawfeek, Mostafa S K; Gad, Eman Fathalla

    2017-02-01

    Glucocorticoids are primary therapy of idiopathic nephrotic syndrome (INS). However, not all children respond to steroid therapy. We assessed glomerular glucocorticoid receptor expression in fifty-one children with INS and its relation to response to steroid therapy and to histopathological type. Clinical, laboratory and glomerular expression of glucocorticoid receptors were compared between groups with different steroid response. Glomerular glucocorticoid expression was slightly higher in controls than in minimal change early responders, which in turn was significantly higher than in minimal change late responders. There was significantly lower glomerular glucocorticoid receptor expression in steroid-resistance compared to early responders, late responders and controls. Glomerular glucocorticoid expression was significantly higher in all minimal change disease (MCD) compared to focal segmental glomerulosclerosis. In INS, response to glucocorticoid is dependent on glomerular expression of receptors and peripheral expression. Evaluation of glomerular glucocorticoid receptor expression at time of diagnosis of NS can predict response to steroid therapy.

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

    Directory of Open Access Journals (Sweden)

    Gustavo Padrón Peña

    2012-07-01

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

  20. 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 < 45. On the Receptive One Word Picture Vocabulary 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.

  1. Involvement of the fractalkine pathway in the pathogenesis of childhood hemolytic uremic syndrome.

    Science.gov (United States)

    Ramos, María Victoria; Fernández, Gabriela C; Patey, Natasha; Schierloh, Pablo; Exeni, Ramón; Grimoldi, Irene; Vallejo, Graciela; Elías-Costa, Christian; Del Carmen Sasiain, Maria; Trachtman, Howard; Combadière, Christophe; Proulx, François; Palermo, Marina S

    2007-03-15

    Thrombotic microangiopathy and acute renal failure are cardinal features of postdiarrheal hemolytic uremic syndrome (HUS). These conditions are related to endothelial and epithelial cell damage induced by Shiga toxin (Stx) through the interaction with its globotriaosyl ceramide receptor. However, inflammatory processes contribute to the pathogenesis of HUS by sensitizing cells to Stx fractalkine (FKN), a CX(3)C transmembrane chemokine expressed on epithelial and endothelial cells upon activation, is involved in the selective migration and adhesion of specific leukocyte subsets to tissues. Here, we demonstrated a selective depletion of circulating mononuclear leukocytes expressing the receptor for FKN (CX(3)CR1) in patients with HUS. We found a unique phenotype in children with HUS distinct from that seen in healthy, uremic, or infected controls, in which monocytes lost CX(3)CR1, down-modulated CD62L, and increased CD16. In addition, the CD56(dim) natural killer (NK) subpopulation was decreased, leading to an altered peripheral CD56(dim)/CD56(bright) ratio from 10.0 to 4.5. It is noteworthy that a negative correlation existed between the percentage of circulating CX(3)CR1(+) leukocytes and the severity of renal failure. Finally, CX(3)CR1(+) leukocytes were observed in renal biopsies from patients with HUS. We suggest that the interaction of CX(3)CR1(+) cells with FKN present on activated endothelial cells may contribute to renal injury in HUS.

  2. Role of rufinamide in the management of Lennox-Gastaut syndrome (childhood epileptic encephalopathy).

    Science.gov (United States)

    Kluger, Gerhard; Bauer, Bettina

    2007-02-01

    Rufinamide, a triazole derivative that is structurally distinct from currently marketed antiepileptic drugs (AEDs), is in development for the adjunctive treatment of Lennox-Gastaut syndrome (LGS) in children and adults. Rufinamide is well absorbed after oral administration, demonstrates low protein binding, and is metabolized by enzymatic hydrolysis without involvement of cytochrome P450 enzymes, conferring a low drug interaction potential. In a randomized, double-blind trial involving 138 adult and pediatric patients with LGS, compared with placebo, rufinamide 45 mg/kg/day resulted in significantly superior reductions in drop attacks (median change -42.5% vs +1.4% with placebo) and total seizures (-32.1% vs -11.7% with placebo), accompanied by significantly higher responder rates. These results are comparable with findings reported for other AEDs in randomized, controlled clinical trials in patients with LGS. Rufinamide produced statistically significant seizure reduction which was maintained during long-term therapy and accompanied by good tolerability. The most frequently reported adverse events from a pooled safety database evaluating short- and long-term therapy were headache (22.9% and 29.5%), dizziness (15.5% and 22.5%) and fatigue (13.6% and 17.7%). Rufinamide therefore presents a favorable efficacy and tolerability profile and is a promising candidate for the adjunctive therapy of LGS.

  3. Long-term Impact of Temporal Sequence from Childhood Obesity to Hyperinsulinemia on Adult Metabolic Syndrome and Diabetes: The Bogalusa Heart Study

    Science.gov (United States)

    Zhang, Tao; Zhang, Huijie; Li, Ying; Li, Shengxu; Fernandez, Camilo; Bazzano, Lydia; He, Jiang; Xue, Fuzhong; Chen, Wei

    2017-01-01

    This study aims to delineate the temporal relations between body mass index (BMI) and insulin in childhood and their impact on adult metabolic syndrome (MetS) and type 2 diabetes mellitus (T2DM).The longitudinal cohort consisted of 609 whites and 339 blacks who had BMI and fasting insulin measured twice in childhood (mean age = 10.5 years at baseline and 15.9 years at follow-up). Incident MetS and T2DM were identified in adulthood (mean age = 30.5 years). Cross-lagged panel and mediation analysis models were used. After adjusting for age, race, gender, and follow-up years, the cross-lagged path coefficient of BMI → insulin (β = 0.326, p < 0.001) was significantly greater than that of insulin → BMI (β = −0.023, p = 0.207) in childhood, with p < 0.001 for the difference in βs. The path coefficient for BMI → insulin was significantly greater in MetS than in non-MetS groups (0.510 vs 0.190, p < 0.001), and greater in hyperglycemia than in normoglycemia groups (0.503 vs 0.285, p = 0.026). The mediation effect of childhood insulin on the BMI-MetS and BMI-hyperglycemia associations was estimated at 19.2% (p < 0.001) and 18.3% (p < 0.001), respectively. These findings provide evidence that higher BMI levels precede hyperinsulinemia during childhood, and this one-directional relation plays a significant role in the development of MetS and T2DM in adult life. PMID:28230104

  4. Neuroanatomical phenotype of Klinefelter syndrome in childhood: a voxel-based morphometry study.

    Science.gov (United States)

    Bryant, Daniel M; Hoeft, Fumiko; Lai, Song; Lackey, John; Roeltgen, David; Ross, Judith; Reiss, Allan L

    2011-05-04

    Klinefelter syndrome (KS) is a genetic disorder characterized by a supernumerary X chromosome. As such, KS offers a naturally occurring human model for the study of both X-chromosome gene expression and androgen on brain development. Previous neuroimaging studies have revealed neuroanatomical variations associated with KS, but have differed widely with respect to subject inclusion criteria, including mosaicism, pubertal status, and history of testosterone replacement therapy (TRT), all factors likely to influence neurodevelopment. We conducted a voxel-based morphometry study of regional gray and white matter (GM and WM, respectively) volumes in 31 KS males (mean age, 9.69 ± 1.70 years) and 36 typically developing (TD) male controls (10.99 ± 1.72 years). None of the participants with KS had received TRT, and all were prepubertal and had nonmosaic 47,XXY karyotypes. After controlling for age, males with KS showed trends (0.05 < p < 0.10) for significantly reduced total gray matter volume (TGMV) and total white matter volume (TWMV), relative to TD males. After controlling for TGMV and age, the KS group had significantly increased sensorimotor and parietal-occipital GM and significantly reduced amygdalar, hippocampal, insular, temporal, and inferior frontal GM relative to TD controls. After controlling for TWMV and age, the KS group had significantly increased left parietal WM as well as significantly reduced frontal and temporal WM. These findings are indicative of a characteristic prepubertal neuroanatomical phenotype that may be associated with cognitive-behavioral features of KS. This work offers new insight into the relationships among X-chromosome gene expression, neuroanatomy, and cognitive-behavioral functions impaired in KS, including language and attention.

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

    Directory of Open Access Journals (Sweden)

    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

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

    Science.gov (United States)

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

    2016-12-01

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

  7. 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...... was 8.9 yrs (3.4–20.5). The median interval from diagnosis of ALL to the diagnosis of tMDS was 3.3 yrs (1.7–7.0). Five patients did not receive SCT and died due to progressive disease at a median of 5.6 mo after diagnosis. Thirty-eight patients were transplanted. One patient was excluded from...

  8. Síndrome mielodisplásica na infância Myelodysplastic syndromes in childhood

    Directory of Open Access Journals (Sweden)

    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. Elevation of plasma-soluble HLA-G in childhood nephrotic syndrome is associated with IgE.

    Science.gov (United States)

    Liu, Yanqing; Lai, Meimei; Lou, Yunyan; Han, Qiuyue; Yang, Qing; Chen, Minguang; Li, Jingbo; Wang, Huiyan; Yan, Weihua; Zheng, Xiaoqun

    2017-01-01

    Background Nephrotic syndrome is related to immune system dysfunction. Soluble human leukocyte antigen-G has been suggested to have an immunomodulatory role. Additionally, human leukocyte antigen-G expression may be influenced by the 14-base pair insertion/deletion polymorphism. However, this molecule has not been investigated in nephrotic syndrome. Methods Fifty-five children with nephrotic syndrome were enrolled: 24 primary nephrotic syndrome patients and 31 recurrent nephrotic syndrome patients. A group of 120 healthy subjects were included as reference controls. Additionally, 22 patients in nephrotic syndrome remission after treatments were also included. Both nephrotic syndrome patients and healthy subjects were genotyped for the 14-base pair insertion/deletion polymorphism. Plasma soluble human leukocyte antigen-G concentrations and serum immunoglobulin concentrations were determined. Results Nephrotic syndrome patients showed significantly higher levels of both soluble human leukocyte antigen-G and immunoglobulin E compared to normal controls. Nephrotic syndrome patients presented a higher frequency of the -14-base pair allele than did normal controls. Soluble human leukocyte antigen-G concentrations in remission patients were dramatically lower compared to in nephrotic syndrome patients. Moreover, soluble human leukocyte antigen-G and immunoglobulin E were moderately correlated in nephrotic syndrome patients. Conclusions The present study demonstrated that plasma soluble human leukocyte antigen-G concentrations were significantly elevated and that a relationship between serum total immunoglobulin E in nephrotic syndrome patients and the human leukocyte antigen-G -14-base pair allele may be a risk factor for nephrotic syndrome. These findings suggest that soluble human leukocyte antigen-G may be used as a monitoring marker for nephrotic syndrome patients' condition.

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

    Directory of Open Access Journals (Sweden)

    Gustavo Kiekebusch Hurel

    2011-01-01

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

  11. Childhood Nephrotic Syndrome

    Science.gov (United States)

    ... Ira Davis, M.D.; Ann Guillott, M.D.; Steve Alexander, M.D.; Deborah Kees-Folts, M.D.; Alicia Neu, M.D.; Steve Wassner, M.D.; John Brandt, M.D.; and ... Advisory & Coordinating Committees Strategic Plans & Reports Research Areas Jobs at NIDDK FAQs Visit Us News NIDDK News ...

  12. Kindler syndrome

    Directory of Open Access Journals (Sweden)

    Kaviarasan P

    2005-01-01

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

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

    DEFF Research Database (Denmark)

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

    2013-01-01

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

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

    DEFF Research Database (Denmark)

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

    2008-01-01

    , NS5806. METHODS AND RESULTS: Isolated canine ventricular myocytes and coronary-perfused wedge preparations were used. Whole-cell patch-clamp studies showed that NS5806 (10 microM) increased peak I(to) at +40 mV by 79 +/- 4% (24.5 +/- 2.2 to 43.6 +/- 3.4 pA/pF, n = 7) and slowed the time constant......, but not in the endocardium, and accentuated the ECG J-wave, leading to the development of phase 2 re-entry and polymorphic ventricular tachycardia (n = 9). Although sodium and calcium channel blockers are capable of inducing BrS only in right ventricular (RV) wedge preparations, the I(to) activator was able to induce...... the phenotype in wedges from both ventricles. NS5806 induced BrS in 4/6 right and 2/10 left ventricular wedge preparations. CONCLUSION: The I(to) activator NS5806 recapitulates the electrographic and arrhythmic manifestation of BrS, providing evidence in support of its pivotal role in the genesis of the disease...

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

    DEFF Research Database (Denmark)

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

    2012-01-01

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

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

    NARCIS (Netherlands)

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

    2015-01-01

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

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

    DEFF Research Database (Denmark)

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

    2012-01-01

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

  18. 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…

  19. Childhood Depressive Disorders

    DEFF Research Database (Denmark)

    Wesselhöft, Rikke Thaarup

    2016-01-01

    This case report describes a female patient diagnosed with Barraquer-Simons syndrome, a rare form of acquired partial lipodystrophy characterised by symmetrical loss of adipose tissue from face, neck, upper extremities and the trunk with onset in early childhood. Initial symptoms were seen...

  20. Long-term effects of oxandrolone treatment in childhood on neurocognition, quality of life and social-emotional functioning in young adults with Turner syndrome.

    Science.gov (United States)

    Freriks, K; Verhaak, C M; Sas, T C J; Menke, L A; Wit, J M; Otten, B J; de Muinck Keizer-Schrama, S M P F; Smeets, D F C M; Netea-Maier, R T; Hermus, A R M M; Kessels, R P C; Timmers, H J L M

    2015-03-01

    Turner syndrome (TS) is the result of (partial) absence of one X-chromosome. Besides short stature, gonadal dysgenesis and other physical aspects, TS women have typical psychological features. Since psychological effects of androgen exposure in childhood probably are long-lasting, we explored long-term psychological functioning after oxandrolone (Ox) therapy during childhood in adults with TS in terms of neurocognition, quality of life and social-emotional functioning. During the initial study, girls were treated with growth hormone (GH) combined with placebo (Pl), Ox 0.03 mg/kg/day, or Ox 0.06 mg/kg/day from the age of eight, and estrogen from the age of twelve. Sixty-eight women participated in the current double-blinded follow-up study (mean age 24.0 years, mean time since stopping GH/Ox 8.7 years). We found no effects on neurocognition. Concerning quality of life women treated with Ox had higher anxiety levels (STAI 37.4 ± 8.4 vs 31.8 ± 5.0, p=0.002) and higher scores on the depression subscale of the SCL-90-R (25.7 ± 10.7 vs 20.5 ± 4.7, p=0.01). Regarding social-emotional functioning, emotion perception for fearful faces was lower in the Ox-treated patients, without effect on interpersonal behavior. Our exploratory study is the first to suggest that androgen treatment in adolescence possibly has long-term effects on adult quality of life and social-emotional functioning. However, differences are small and clinical implications of our results seem limited. Therefore we would not recommend against the use of Ox in light of psychological consequences.

  1. 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…

  2. 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…

  3. Psychological and behavioural aspects of patients with Turner syndrome from childhood to adulthood: a review of the clinical literature.

    Science.gov (United States)

    Christopoulos, P; Deligeoroglou, E; Laggari, V; Christogiorgos, S; Creatsas, G

    2008-03-01

    Turner syndrome (TS) is a chromosomal abnormality, which occurs in approximately one of every 2500 female births. Short stature, infertility, additional physical abnormalities, skeletal and medical problems may be present. Genetic, hormonal, and medical problems associated with TS are likely to affect psychosexual development of female adolescent patients, and thus influence their psychological functioning, behavior patterns, social interactions and learning ability. Although TS constitutes a chronic medical condition, with possible physical, social and psychological complications in a woman's life, hormonal and estrogen replacement therapy and assisted reproduction, are treatments that can be helpful for TS patients and improve their quality of life. Authors report on a review of the research literature clinical aspects of the syndrome as well as the beneficial effect of hormonal therapy in such patients.

  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. 儿童期受虐与肠易激综合征关系的临床研究%A Clinical Study of Childhood Abuse on Irritable Bowel Syndrome

    Institute of Scientific and Technical Information of China (English)

    刘羽; 王彦彦; 纪菊英; 潘园园; 孙剑

    2016-01-01

    目的:探讨儿童期受虐在肠易激综合征(IBS)发生及患者精神心理状态、生活质量中所起的作用。方法:72例 IBS 患者(患者组)评定儿童期虐待问卷(CTQ),评估儿童期受虐情况,并与92例正常健康人(对照组)进行对照。 IBS 患者同时还评定抑郁自评量表(SDS)、焦虑自评量表(SAS)、肠易激综合征患者生活质量表(IBS -QOL)。结果:①患者组 CTQ 评分显著高于对照组,差异有统计学意义(t =3.590,P <0.001);患者组儿童期受虐发生率为44.4%,高于对照组的27.2%,差异有统计学意义(χ2=5.313,P <0.05);②与无儿童期受虐的 IBS 患者(40例)比较,有儿童期受虐的 IBS 患者(32例)SAS 评分显著较高,差异有统计学意义(t =2.099,P <0.05);③有儿童期受虐的 IBS 患者 QOL 评分显著高于无儿童期受虐的 IBS 患者,差异有统计学意义(t =‐2.223,P <0.05)。结论:儿童期受虐可能是 IBS 发生的社会心理学因素之一,并可能对 IBS 患者的心理状况、生活质量产生不良的影响。%Objective :To explore the clinical correlativity of childhood abuse and irritable bowel syndrome cause , psychological symptoms and quality of life .Methods :A clinical childhood abuse survey was conducted with childhood trauma questionnaire(CTQ)in 72 cases of patients with irritable bowel syndrome (case group)and 92 cases of health (control group) .All patients with irritable bowel syndrome were also assessed by self - rating depression scale (SDS) ,self - rating anxiety scale(SAS) ,and the irritable bowel syndrome quality of life questionnaire(IBS - QOL) . Results :Compared to controls ,patients with irritable bowel syndrome had higher scores of CTQ (t = 3 .590 ,P <0 .001) ,and higher prevalence of childhood abuse (27 .2% vs 44 .4% ,χ2 = 5 .313 ,P < 0 .05) .Irritable bowel syndrome patients with

  6. General Information about Mycosis Fungoides and the Sezary Syndrome

    Science.gov (United States)

    ... Childhood Hodgkin Lymphoma Treatment Childhood NHL Treatment Research Mycosis Fungoides and the Sézary Syndrome Treatment (PDQ®)–Patient Version General Information About Mycosis Fungoides and the Sézary Syndrome Go to Health ...

  7. Stages of Mycosis Fungoides and the Sezary Syndrome

    Science.gov (United States)

    ... Childhood Hodgkin Lymphoma Treatment Childhood NHL Treatment Research Mycosis Fungoides and the Sézary Syndrome Treatment (PDQ®)–Patient Version General Information About Mycosis Fungoides and the Sézary Syndrome Go to Health ...

  8. Treatment Options by Stage (Mycosis Fungoides and the Sezary Syndrome)

    Science.gov (United States)

    ... Childhood Hodgkin Lymphoma Treatment Childhood NHL Treatment Research Mycosis Fungoides and the Sézary Syndrome Treatment (PDQ®)–Patient Version General Information About Mycosis Fungoides and the Sézary Syndrome Go to Health ...

  9. Can Kallmann syndrome be occasionally diagnosed during childhood? Genetic diagnosis in a child with associated renal agenesis and mirror movements

    Institute of Scientific and Technical Information of China (English)

    Neoklis A. Georgopoulos; Vasiliki Koika; Petros Varmavas; Alexandra Efthymiadou; Dimitra J. Marioli; Stefanos Mantagos; Dionysios Chrysis

    2009-01-01

    @@ Dear Sir, I am Neoklis A. Georgopoulos, from Department of Obstetrics and Gynaecology, Division of Reproductive Endocrinology, University of Patras Medical School,Greece. We present an early prepubertal diagnosis of Kallmann syndrome (KS) in a child with anosmia, renal agenesis and mirror movements. KS is a congenital defect characterized by the presence of hypogonadotropic hypogonadism and anosmia or hyposmia [1].Besides hypogonadism and anosmia, the clinical phenotype is characterized by the presence of other associated features, including, among others, mirror movements (synkinesis), cleft palate and renal agenesis/dysgenesis.

  10. Childhood Schizophrenia

    Science.gov (United States)

    Childhood schizophrenia Overview By Mayo Clinic Staff Childhood schizophrenia is an uncommon but severe mental disorder in which children interpret reality abnormally. Schizophrenia involves a range of problems with thinking (cognitive), ...

  11. Childhood obesity

    OpenAIRE

    Wilkinson, Justine; Howard, Simon

    2006-01-01

    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...

  12. Harlequin syndrome in childhood: case report Síndrome de Arlequim na infância: relato de caso

    Directory of Open Access Journals (Sweden)

    Juliano de Avelar Breunig

    2012-12-01

    Full Text Available Harlequin syndrome happens in only one side of the face. In the affected half, the face does not sweat or flush even with simulation. Arms and trunk could also be affected. This condition is induced by heat, exercise and emotional factors. The article reports a case of a nine-year-old female with a 3-year history of unilateral flushing and sweating after exercise; a brief literature review is included. Despite the rarity of this syndrome, dermatologists should recognize this condition and refer these patients to ophthalmological and neurological examination.A Síndrome de Arlequim ocorre em apenas um lado da face. No metade afetada, a face não produz suor ou flushing, mesmo estimulada. Braços e tórax raramente podem ser afetados. Esta condição é geralmente induzida por calor, exercícios e fatores emocionais. O artigo relata um caso de uma menina de 9 anos de idade com uma história de 3 anos de flushing e sudorese unilaterais no rosto após exercícios e inclui uma revisão da literatura. Apesar da raridade desta síndrome, dermatologistas devem reconhecer esta condição e encaminhar estes pacientes a um exame oftalmológico e neurológico.

  13. [Age-dependent visceral medicine: paediatric visceral medicine - visceral medical paediatrics - considerations on the short bowel syndrome in childhood].

    Science.gov (United States)

    Krause, H; Heiduk, M; Wachowiak, R; Till, H

    2013-08-01

    There are several reasons for the possible development of a short bowel syndrome, which, however, occurs only rarely. The main causes consist of extended intestinal resections in cases of congenital anomalies (e.g., gastroschisis, intestinal atresia or dysplasia) or ischaemic lesions due to a volvulus. In addition, an intestinal stoma at a more upper segment of the GI tract can result in the functional manifestation of a short bowel syndrome. The differentiation between temporary and persisting types is essential for initiation of an adequate treatment. Loss or exclusion of organic resorption area at the inner surface of the (small) intestine can be associated with numerous pathological consequences requiring treatment. As a principle consideration from the paediatric point of view, the potential of intestinal adaptation needs to be assessed. Basic conservative treatment options are parenteral and enteral nutrition regimens, in particular, to prevent complications (such as D-lactate acidosis). The main surgical approaches are the procedures called LILT (longitudinal intestinal lengthening and tailoring) according to Bianchi and STEP (serial transverse enteroplasty). The technique to create intestinal segments of antiperistalsis has been abandoned. Because of the encouraging results of intestinal transplantation, this novel treatment option has gained greater attention over the past few years and is now also an option for paediatric patients. The limiting factor and thus major complication is the central venous catheter for long-term treatment. Catheter-related complications are still the main reason for a considerable mortality in these children.

  14. [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

  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. Troyer Syndrome

    Science.gov (United States)

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

  17. 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

  18. Down Syndrome (For Parents)

    Science.gov (United States)

    ... disorders, breathing problems, including sleep apnea and asthma, obesity, an increased chance of infections, and a higher risk of childhood leukemia. People with Down syndrome sometimes have an unstable upper spine and should ...

  19. Childhood Cancer Statistics

    Science.gov (United States)

    ... Room Employment Feedback Contact Select Page Childhood Cancer Statistics Home > Cancer Resources > Childhood Cancer Statistics Childhood Cancer Statistics – Graphs and Infographics Number of Diagnoses Incidence Rates ...

  20. Volvulus - childhood

    Science.gov (United States)

    ... Complications Possible complications of volvulus are: Secondary peritonitis Short bowel syndrome (after removal of a large part of the ... obstruction Nausea and vomiting - adults Peritonitis - secondary Shock Short bowel syndrome Review Date 7/22/2016 Updated by: Subodh ...

  1. Childhood Emergencies

    Science.gov (United States)

    ... emergency physicians. They receive comprehensive training in treating childhood emergencies and have more training in pediatric emergencies than other physicians, including pediatricians. Does Your Child's School Know About Food Allergies? - 8/10/2015 The nation's emergency physician ...

  2. Childhood Craniopharyngioma

    Science.gov (United States)

    ... has any of the following: Headaches, including morning headache or headache that goes away after vomiting . Vision changes. Nausea ... Cancer Late Effects of Treatment for Childhood Cancer Adolescents and Young Adults with Cancer Children with Cancer: ...

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

    DEFF Research Database (Denmark)

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

    2008-01-01

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

  4. Allergy and acute leukaemia in children with Down syndrome: a population study. Report from the Mexican inter-institutional group for the identification of the causes of childhood leukaemia

    Science.gov (United States)

    Núñez-Enríquez, J C; Fajardo-Gutiérrez, A; Buchán-Durán, E P; Bernáldez-Ríos, R; Medina-Sansón, A; Jiménez-Hernández, E; Amador-Sanchez, R; Peñaloza-Gonzalez, J G; Paredes-Aguilera, R; Alvarez-Rodriguez, F J; Bolea-Murga, V; de Diego Flores-Chapa, J; Flores-Lujano, J; Bekker-Mendez, V C; Rivera-Luna, R; del Carmen Rodriguez-Zepeda, M; Rangel-López, A; Dorantes-Acosta, E M; Núñez-Villegas, N; Velazquez-Aviña, M M; Torres-Nava, J R; Reyes-Zepeda, N C; Cárdenas-Cardos, R; Flores-Villegas, L V; Martinez-Avalos, A; Salamanca-Gómez, F; Gorodezky, C; Arellano-Galindo, J; Mejía-Aranguré, J M

    2013-01-01

    Background: Allergies have been described as protective factors against the development of childhood acute leukaemia (AL). Our objective was to investigate the associations between allergy history and the development of AL and acute lymphoblastic leukaemia (ALL) in children with Down syndrome (DS). Methods: A case–control study was performed in Mexico City. The cases (n=97) were diagnosed at nine public hospitals, and the controls (n=222) were recruited at institutions for children with DS. Odds ratios (OR) were calculated. Results: Asthma was positively associated with AL development (OR=4.18; 95% confidence interval (CI): 1.47–11.87), whereas skin allergies were negatively associated (OR=0.42; 95% CI: 0.20–0.91). Conclusion: Our findings suggest that allergies and AL in children with DS share biological and immune mechanisms. To our knowledge, this is the first study reporting associations between allergies and AL in children with DS. PMID:23695017

  5. Severe Obesity Confounds the Interpretation of Low-Dose Dexamethasone Test Combined with the Administration of Ovine Corticotrophin-Releasing Hormone in Childhood Cushing Syndrome

    OpenAIRE

    Batista, Dalia L.; Courcoutsakis, Nikos; Riar, Jehan; Keil, Margaret F.; Stratakis, Constantine A.

    2008-01-01

    Context: Suppression of cortisol secretion with a low-dose dexamethasone (Dex) followed by the administration of ovine CRH (Dex-oCRH) is used in the evaluation of adults with a pseudo-Cushing syndrome state (PCSS) vs. Cushing syndrome (CS).

  6. 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.

  7. 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 Wittner Bynner...... (1881-1968) wrote, "The biggest problem in the world could have been solved when it was small"....

  8. Effect of abnormal expression of miRNA on the metabolic syndrome in childhood obesity%MiRNA 异常表达对肥胖儿童代谢综合征发生发展的影响

    Institute of Scientific and Technical Information of China (English)

    谭仕凯; 刘海英; 宋霞; 李荣国; 周峻林; 袁小平

    2014-01-01

    Objective To discuss influence of abnormal expression of miRNA on the cause and development of metabolic syn -drome in childhood obesity.Methods MiRNA microarray was used to detect the differential expression of miRNA in blood serum of met -abolic syndrome in childhood obesity,childhood obesity only and the healthy children .Real-time quantitative reverse transcription -poly-merase chain reaction(RT-PCR) was performed to verify the differential expression of candidate miRNA obtained from microarray experi -ment.Bioinformatic software tools were used to predict the target genes of identified miRNA .Results Fifteen miRNAs were upregulated more than 1.5-fold,and 11 miRNAs were downregulated in childhood obesity .Nine miRNAs were upregulated more than 1.5-fold,7 miR-NAs were downregulated in metabolic syndrome in childhood obesity .The expression of hsa-miR-143,hsa-miR-24,hsa-miR-34a,and has-miR-29a of the metabolic syndrome group were upregulated more than childhood obesity only group ,hsa-miR-192 and hsa-miR-23a were downregulated.The results of real-time quantitative RT-PCR were consistent with those of miRNA microarray.The common miRNA targets of obviously upregulated miRNAs and downregulated miRNAs were discovered.Conclusion Some miRNAs are differentially expressed and may play an important role in common target genes in regulation of occurrence and development of Metabolic syndrome in childhood obesity.%目的:探讨微小 RNA(microRNA,miRNA)异常表达对肥胖儿童代谢综合征发生发展的影响。方法应用 miR-NA 表达谱芯片检测肥胖合并代谢综合征患儿、单纯性肥胖患儿及正常体重儿童血清中 miRNA 的表达谱;利用实时定量 PCR技术检测其差异表达的 miRNA,验证 miRNA 芯片结果的可靠性;应用软件对筛选出的显著差异表达 miRNA 的靶基因进行预测。结果单纯性肥胖患儿血清中,上调表达超过1.5倍的 miRNA 有15个,下调表达超过1.5倍的有11个

  9. Reiter’s Syndrome in Childhood. A Case Report Síndrome de Reiter en la infancia. Reporte de un caso

    OpenAIRE

    Alexander Torres Molina; Osvaldo Urrutia Mora

    2011-01-01

    Reiter’s Syndrome is a condition typical of genetically predisposed individuals. They tend to develop this syndrome after a urogenital or gastrointestinal infection. These infections are the triggering factor of complex immunological reactions responsible for the cutaneous, mucous, ocular and articular sintomatology. The most common clinical presentation is not frequent in children, but in men between 20 and 40 years old. The case of an eight years old, male patient, with clinical manifestati...

  10. 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.

  11. 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.…

  12. Childhood obesity.

    Science.gov (United States)

    Strauss, R

    1999-01-01

    Approximately 10% of children are obese. Twin and adoption studies demonstrate a large genetic component to obesity, especially in adults. However, the increasing prevalence of obesity over the last 20 years can only be explained by environmental factors. In most obese individuals, no measurable differences in metabolism can be detected. Few children engage in regular physical activity. Obese children and adults uniformly underreport the amount of food they eat. Obesity is particularly related to increased consumption of high-fat foods. BMI is a quick and easy way to screen for childhood obesity. Treating childhood obesity relies on positive family support and lifestyle changes involving the whole family. Food preferences are influenced early by parental eating habits, and when developed in childhood, they tend to remain fairly constant into adulthood. Children learn to be active or inactive from their parents. In addition, physical activity (or more commonly, physical inactivity) habits that are established in childhood tend to persist into adulthood. Weight loss is usually followed by changes in appetite and metabolism, predisposing individuals to regain their weight. However, when the right family dynamics exist--a motivated child with supportive parents--long-term success is possible.

  13. Update on rufinamide in childhood epilepsy

    Directory of Open Access Journals (Sweden)

    Coppola G

    2011-07-01

    Full Text Available Giangennaro CoppolaClinic of Child and Adolescent Neuropsychiatry, Medical School, University of Salerno, ItalyAbstract: Rufinamide is an orally active, structurally novel compound (1-[(2,6-difluorophenil1methyl1]-1 hydro 1,2,3-triazole-4 carboxamide, which is structurally distinct from other anticonvulsant drugs. It was granted orphan drug status for the adjunctive treatment of Lennox-Gastaut syndrome (LGS in the United States in 2004, and released for use in Europe in 2007. In January 2009, rufinamide was approved by the United States Food and Drug Administration for treatment of LGS in children 4 years of age and older. It is also approved for adjunctive treatment for partial seizures in adults and adolescents. Rufinamide's efficacy mainly against atonic/tonic seizures in patients with LGS seems nowadays indubitable and has been confirmed both in randomized controlled trial and in open label extension studies. More recently, rufinamide was evaluated for the adjunctive treatment of childhood-onset epileptic encephalopathies and epileptic syndromes other than LGS, including epileptic spasms, multifocal epileptic encephalopathy with spasm/tonic seizures, myoclonic-astatic epilepsy, Dravet syndrome and malignant migrating partial seizures in infancy. This review updates the existing literature data on the efficacy and safety/tolerability of rufinamide in childhood-onset epilepsy syndromes.Keywords: rufinamide, Lennox-Gastaut syndrome, epileptic encephalopathy, myoclonic-astatic syndrome, Dravet syndrome, malignant migrating partial seizures in infancy, refractory childhood epilepsy

  14. 儿童超重及肥胖与代谢综合征的相关性%The relationship between childhood overweight or obesity and metabolic syndrome

    Institute of Scientific and Technical Information of China (English)

    徐旭; 蒋莉; 王喜平; 周立娜

    2013-01-01

    目的 探讨儿童超重与代谢综合征(MS)的相关性.方法 回顾性调查分析某院2002年1月~2011年12月期间在门诊就诊的肥胖儿及超重儿为研究对象,按照体重指数分组分为超重儿174例、肥胖儿154例.同时以同期住院治疗体重指数正常的仅仅患呼吸道疾病患儿325例为对照组.分析腰围、臀围、收缩压(SBP)、舒张压(DBP)、空腹血糖(FBG)、总胆固醇(TC)、甘油三酯(TG)、高密度脂蛋白(HDL-C)、低密度脂蛋白(LDL-C)、丙氨酸氨基转移酶(ALT)、天门冬氨酸氨基转移酶(AST)、空腹胰岛素(FINS)及计算胰岛素抵抗指数(HOMA-IR).结果 (1)对照组MS患病率0.00%,超重儿MS患病率6.90%,肥胖儿MS患病率25.32%,随着体重指数的升高,MS患病率呈现升高趋势,三组MS患病率比较差异有统计学意义(x2=93.35,P< 0.01). (2)腰围、臀围、SBP、DBP、FBG、TC、TG、HDL-C、LDL-C、ALT、AST、FINS、HOMA-IR等检测指标结果在对照组、超重儿、肥胖儿中以逐渐升高趋势分布,并且超重儿与对照组、肥胖儿与对照组组间各指标比较差异均有统计学意义(P<0.05). (3) BMI、腰围、SBP、TC、TG、LDL-C、ALT、AST、FINS与HOMA-IR呈正相关,HDL-C与HOMA-IR呈负相关(均P<0.01).结论 超重及肥胖儿童MS发病率明显较正常体重儿童升高,MS发病与超重及肥胖密切相关,应注重预防超重及肥胖.%OBJECTIVE To explore the relationship between childhood overweight or obesity and metabolic syndrome (MS). METHODS Obese and overweight children in clinics of our hospital during January 2002-December 2011 as the research objects were retrospectively analyzed, according to body mass index, they were divided into overweight group 174 cases, obese children 154 cases. At the same time, 325 hospitalized children with airway disease and normal body mass index were in the normal group. Analyzed waist, hipline, systolic blood pressure (SBP), diastolic blood pressure (DBP

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

    Science.gov (United States)

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

    2015-01-01

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

  16. J Wave Syndromes: A Decade of Progress

    Institute of Scientific and Technical Information of China (English)

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

    2015-01-01

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

  17. Childhood pancreatitis.

    Science.gov (United States)

    Uretsky, G; Goldschmiedt, M; James, K

    1999-05-01

    Acute pancreatitis is a rare finding in childhood but probably more common than is generally realized. This condition should be considered in the evaluation of children with vomiting and abdominal pain, because it can cause significant morbidity and mortality. Clinical suspicion is required to make the diagnosis, especially when the serum amylase concentration is normal. Recurrent pancreatitis may be familial as a result of inherited biochemical or anatomic abnormalities. Patients with hereditary pancreatitis are at high risk for pancreatic cancer.

  18. Childhood rhabdomyosarcoma.

    Science.gov (United States)

    Córdoba Rovira, S M; Inarejos Clemente, E J

    Rhabdomyosarcoma is the most common soft-tissue sarcoma in children; it can appear in any part of the body. Its biological behavior varies widely, and despite the absence of specific clinical or radiological characteristics, rhabdomyosarcoma should be taken into account in the differential diagnosis of solid tumors in children. This review focuses primarily on the imaging findings and anatomical distribution of the histological subtypes of childhood rhabdomyosarcoma and secondarily on the differential findings in histological studies.

  19. Childhood Obesity Facts

    Science.gov (United States)

    ... Breastfeeding Micronutrient Malnutrition State and Local Programs Childhood Obesity Facts Recommend on Facebook Tweet Share Compartir On ... Children (WIC) Program, 2000–2014 Prevalence of Childhood Obesity in the United States, 2011-2014 Childhood obesity ...

  20. The use of the Berlin definition for acute respiratory distress syndrome during infancy and early childhood : multicenter evaluation and expert consensus

    NARCIS (Netherlands)

    De Luca, Daniele; Piastra, Marco; Chidini, Giovanna; Tissieres, Pierre; Calderini, Edoardo; Essouri, Sandrine; Medina Villanueva, Alberto; Vivanco Allende, Ana; Pons-Odena, Marti; Perez-Baena, Luis; Hermon, Michael; Tridente, Ascanio; Conti, Giorgio; Antonelli, Massimo; Kneyber, Martin

    2013-01-01

    A new acute respiratory distress syndrome (ARDS) definition has been recently issued: the so-called Berlin definition (BD) has some characteristics that could make it suitable for pediatrics. The European Society for Pediatric Neonatal Intensive Care (ESPNIC) Respiratory Section started a project to

  1. Childhood Short Stature

    Directory of Open Access Journals (Sweden)

    J.Ray

    2012-07-01

    Full Text Available Childhood short stature comprises Varity of endocrinal, systemic, Skeletal & genetic disorders of pediatrics and is not just confined for endocrinal disorder only. A systemic approach often reduces the need for test which is often expensive &unnecessary. Use growth chart & asses bone age during evaluation. Short & heavy child are generally due to Endocrine causes, Short & thin are due to systemic disease, Short with normal velocity are may be due to Constitutional delay in growth &puberty or Familial short stature, differentiation can be done by Bone Age. In Girls Turner syndrome has to be kept in mind. Purpose of evaluation to find out the child who does not need treatment, who cannot be treated & the child who can be benefited from treatment.

  2. Protein metabolism in severe childhood malnutrition

    Science.gov (United States)

    The major clinical syndromes of severe childhood malnutrition (SCM) are marasmus (non-oedematous SCM), kwashiorkor and marasmic-kwashiorkor (oedematous SCM). Whereas treatment of marasmus is straightforward and the associated mortality is low, kwashiorkor and marasmic-kwashiorkor are difficult to tr...

  3. BMS-214662 in Treating Patients With Acute Leukemia, Myelodysplastic Syndrome, or Chronic Myeloid Leukemia

    Science.gov (United States)

    2013-01-22

    Adult Acute Promyelocytic Leukemia (M3); Blastic Phase Chronic Myelogenous Leukemia; Childhood Myelodysplastic Syndromes; 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

  4. Childhood MDS

    Science.gov (United States)

    ... chemotherapy treatment for another cancer(s). Prior acquired aplastic anemia. Children born with bone marrow disorders such as Fanconi anemia, severe congenital neutropenia or Schwachman-Diamond syndrome have a higher risk of ... MDS. Children who have a first-degree relative (mother, father, ...

  5. Crisponi/CISS1 syndrome

    DEFF Research Database (Denmark)

    AlHashem, Amal M; Majeed-Saidan, Muhammad Ali; Ammari, Amer N

    2016-01-01

    Crisponi/CISS1 syndrome (MIM#272430) is a rare autosomal recessive disease characterized by major feeding difficulties, camptodactyly, and anhidrosis in early childhood; and the subsequent development of paradoxical cold-induced sweating and scoliosis later in life. The syndrome is caused by bial...

  6. Children with Usher syndrome

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2012-01-01

    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...

  7. Neurocysticercosis presenting as Millard Gubler syndrome

    Directory of Open Access Journals (Sweden)

    Rajniti Prasad

    2012-01-01

    Full Text Available Neurocysticercosis is a common childhood neurological illness in India. A variety of presentations have been reported in the literature, including weber syndrome. Neurocysticercosis, manifesting as Millard Gubler syndrome, have not been reported in literature. Therefore, we report a child presented to us with Millard Gubler syndrome due to pontomedullary neurocysticercosis and was treated successfully.

  8. 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.

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

    Science.gov (United States)

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

    2010-08-01

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

  10. Nephrotic Syndrome in Adults

    Science.gov (United States)

    ... Disease Chronic Kidney Disease (CKD) What Is Chronic Kidney Disease? Causes of CKD Tests & Diagnosis Managing CKD Eating Right Preventing CKD What If My Kidneys Fail? Clinical Trials Anemia High Blood Pressure Heart ... Nephropathy Kidney Disease in Children Childhood Nephrotic Syndrome Hemolytic ...

  11. 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.

  12. 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.

  13. Hemolytic uremic syndrome.

    Science.gov (United States)

    Canpolat, Nur

    2015-06-01

    Hemolytic uremic syndrome (HUS) is a clinical syndrome characterized by the triad of thrombotic microangiopathy, thrombocytopenia, and acute kidney injury. Hemolytic uremic syndrome represents a heterogeneous group of disorders with variable etiologies that result in differences in presentation, management and outcome. In recent years, better understanding of the HUS, especially those due to genetic mutations in the alternative complement pathway have provided an update on the terminology, classification, and treatment of the disease. This review will provide the updated classification of the disease and the current diagnostic and therapeutic approaches on the complement-mediated HUS in addition to STEC-HUS which is the most common cause of the HUS in childhood.

  14. 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 ...

  15. A fatal neuromuscular disease in an adult patient after poliomyelitis in early childhood: consideration of the pathology of post-polio syndrome.

    Science.gov (United States)

    Kosaka, Takayuki; Kuroha, Yasuko; Tada, Mari; Hasegawa, Arika; Tani, Takashi; Matsubara, Nae; Koike, Ryoko; Toyoshima, Yasuko; Takahashi, Hitoshi

    2013-02-01

    Post-polio syndrome (PPS) characterized by new neuromuscular problems can appear many years after acute poliomyelitis in polio survivors. We report a 77-year-old man with antecedent poliomyelitis who newly developed neuromuscular disease with a clinical course of 27 years, the final 10 years of which were characterized by apparent progression, thus raising doubt as to the clinical diagnosis of amyotrophic lateral sclerosis (ALS) following PPS. Pathologically, plaque-like, old poliomyelitis lesions were found almost exclusively in the lumbosacral cord, showing complete neuronal loss and glial scars in the anterior horns. Although less severe, neuronal loss and gliosis were also evident outside the old lesions, including the intermediate zone. Moreover, symmetrical degeneration of the corticospinal tracts, as evidenced by CD68 immunostaining, was a feature of the white matter of the lower spinal cord. In the motor cortex, loss of Betz cells was also confirmed. Synaptophysin immunostaining of the lumbosacral cord also revealed decreased expression outside the old lesions, excluding the posterior horn. Interestingly, decreased expression of synaptophysin was also evident in the cervical anterior horns, where no old lesions were observed. No Bunina bodies, TDP-43 inclusions, or Golgi fragmentation were found. Neurogenic atrophy was evident in the iliopsoas and scalenus muscles, and inclusion body myositis-like changes were also observed in these muscles and the tongue. Was it possible to have diagnosed this patient as having ALS? We consider that the features in this case may have represented the pathology of long-standing and/or fatal PPS itself, and not ALS.

  16. [Chronic ataxia in childhood].

    Science.gov (United States)

    Erazo Torricelli, Ricardo

    2013-01-01

    Chronic ataxias are an heterogeneous group of disorders that affect the child at different ages. Thus, the congenital forms, generally non progressive are observed from first months of life and are expressed by hypotonia and motor delay long before the ataxia became evident. The cerebral magnetic resonance images (MRI) may be diagnostic in some pictures like Joubert syndrome. The group of progressive hereditary ataxias, usually begin after the infant period. The clinical signs are gait instability and ocular apraxia that can be associated with oculocutaneous telangiectasias (ataxia-telangiesctasia) or with sensory neuropathy (Friedreich ataxia). In this review are briefly described congenital ataxias and in more detailed form the progressive hereditary ataxias autosomal recessive, autosomal dominants and mitochondrials. The importance of genetic study is emphasized, because it is the key to obtain the diagnosis in the majority of these diseases. Although now there are no treatments for the majority of progressive hereditary ataxias, some they have like Refsum disease, vitamine E deficiency, Coenzyme Q10 deficiency and others, thus the diagnosis in these cases is even more important. At present the diagnosis of childhood hereditary ataxia not yet treatable is fundamental to obtain suitable handling, determine a precise outcome and to give to the family an opportune genetic counseling.

  17. 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...

  18. Prevalence and patterns of morphological abnormalities in patients with childhood cancer

    NARCIS (Netherlands)

    Merks, Johannes H. M.; Ozgen, Heval M.; Koster, Jan; Zwinderman, Aeilko H.; Caron, Huib N.; Hennekam, Raoul C. M.

    2008-01-01

    Context Constitutional gene defects predispose to cancer in children. Such tumor predisposition syndromes can be recognized by specific patterns of morphological abnormalities. Objectives To assess the prevalence of morphological abnormalities in a large cohort of patients with childhood cancer and

  19. 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

  20. 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

  1. [Neurobiology of Tourette Syndrome].

    Science.gov (United States)

    Ünal, Dilek; Akdemir, Devrim

    2016-01-01

    Tourette Syndrome (TS) is a neurodevelopmental disorder characterized by chronic motor and vocal tics. Although it is a common disorder in childhood, the etiology of Tourette Syndrome has not been fully elucidated yet. Studies, -conducted so far- have revealed differences in neurobiological structures of individuals who suffer from Tourette Syndrome. The objective of this review is to assess etiological and pathophysiological studies in the Tourette Syndrome literature. An electronical search was conducted in PubMed database using the keywords tic disorders, Tourette Syndrome, neurobiology, genetics, neuroimaging and animal models. Research and review studies published between 1985 and 2015, with a selection preference towards recent publications, were reviewed. According to the studies, genetic predisposition hypothesis is considered as a priority. However, a precise genetic disorder associated with Tourette Syndrome has not been found. The evidence from postmortem and neuroimaging studies in heterogenous patient groups and animal studies supports the pathological involvement of cortico-striato-thalamo-cortical (CSTC) circuits in Tourette Syndrome. Consequently, the most emphasized hypothesis in the pathophysiology is the dopaminergic dysfunction in these circuits. Furthermore, these findings of the animal, postmortem and neuroimaging studies have confirmed the neurodevelopmental hypothesis of Tourette Syndrome. In conclusion, more studies are needed to understand the etiology of the disorder. The data obtained from neurobiological studies of the disorder will not only shed light on the way of Tourette Syndrome, but also guide studies on its treatment options.

  2. Update on rufinamide in childhood epilepsy.

    Science.gov (United States)

    Coppola, Giangennaro

    2011-01-01

    Rufinamide is an orally active, structurally novel compound (1-[(2,6-difluorophenil1) methyl1]-1 hydro 1,2,3-triazole-4 carboxamide), which is structurally distinct from other anticonvulsant drugs. It was granted orphan drug status for the adjunctive treatment of Lennox-Gastaut syndrome (LGS) in the United States in 2004, and released for use in Europe in 2007. In January 2009, rufinamide was approved by the United States Food and Drug Administration for treatment of LGS in children 4 years of age and older. It is also approved for adjunctive treatment for partial seizures in adults and adolescents. Rufinamide's efficacy mainly against atonic/tonic seizures in patients with LGS seems nowadays indubitable and has been confirmed both in randomized controlled trial and in open label extension studies. More recently, rufinamide was evaluated for the adjunctive treatment of childhood-onset epileptic encephalopathies and epileptic syndromes other than LGS, including epileptic spasms, multifocal epileptic encephalopathy with spasm/tonic seizures, myoclonic-astatic epilepsy, Dravet syndrome and malignant migrating partial seizures in infancy. This review updates the existing literature data on the efficacy and safety/tolerability of rufinamide in childhood-onset epilepsy syndromes.

  3. 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.

  4. Growth curves for Laron syndrome.

    OpenAIRE

    Laron, Z; Lilos, P; Klinger, B.

    1993-01-01

    Growth curves for children with Laron syndrome were constructed on the basis of repeated measurements made throughout infancy, childhood, and puberty in 24 (10 boys, 14 girls) of the 41 patients with this syndrome investigated in our clinic. Growth retardation was already noted at birth, the birth length ranging from 42 to 46 cm in the 12/20 available measurements. The postnatal growth curves deviated sharply from the normal from infancy on. Both sexes showed no clear pubertal spurt. Girls co...

  5. Metabolic Syndrome in Childhood Cancer Survivors

    NARCIS (Netherlands)

    M. van 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 i

  6. 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.

  7. 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. 

  8. 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.

  9. 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

  10. 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…

  11. Childhood brain tumor epidemiology: a brain tumor epidemiology consortium review.

    Science.gov (United States)

    Johnson, Kimberly J; Cullen, Jennifer; Barnholtz-Sloan, Jill S; Ostrom, Quinn T; Langer, Chelsea E; Turner, Michelle C; McKean-Cowdin, Roberta; Fisher, James L; Lupo, Philip J; Partap, Sonia; Schwartzbaum, Judith A; Scheurer, Michael E

    2014-12-01

    Childhood brain tumors are the most common pediatric solid tumor and include several histologic subtypes. Although progress has been made in improving survival rates for some subtypes, understanding of risk factors for childhood brain tumors remains limited to a few genetic syndromes and ionizing radiation to the head and neck. In this report, we review descriptive and analytical epidemiology childhood brain tumor studies from the past decade and highlight priority areas for future epidemiology investigations and methodological work that is needed to advance our understanding of childhood brain tumor causes. Specifically, we summarize the results of a review of studies published since 2004 that have analyzed incidence and survival in different international regions and that have examined potential genetic, immune system, developmental and birth characteristics, and environmental risk factors. Cancer Epidemiol Biomarkers Prev; 23(12); 2716-36. ©2014 AACR.

  12. Childhood Roots of Schizophrenia

    Science.gov (United States)

    Watt, Norman F.; Lubensky, Amy W.

    1976-01-01

    Earlier project reports compared childhood social behavior of nonmigratory schizophrenics and normal classmates by analyzing teachers' comments in school records. This article expands the sample to include migratory schizophrenics and analyzes childhood intellectual functioning. Behavioral differences indicated emotional immaturity and social…

  13. Childhood Overweight and Obesity

    Science.gov (United States)

    ... Home Prevention and Wellness Food and Nutrition Healthy Food Choices Childhood Overweight and Obesity Childhood Overweight and Obesity Family HealthFood and NutritionHealthy Food ChoicesKids and TeensPrevention and WellnessWeight Loss and Diet ...

  14. Undiagnosed asthma in childhood

    NARCIS (Netherlands)

    van Gent, R.

    2008-01-01

    Asthma is the most prevalent chronic disease in childhood. To study the actual prevalence and impact of undiagnosed childhood asthma in daily life (i.e. quality of life, participation in physical and school activities) we performed a survey in schoolchildren (aged 7-10 years) in the southern part of

  15. [Hemolytic uremic syndrome in children

    NARCIS (Netherlands)

    Heuvelink, A.E.; Loo, D.M.W.M. te; Monnens, L.A.H.

    2001-01-01

    In Europe, haemolytic uraemic syndrome (HUS) is the most frequent cause of acute renal insufficiency during childhood. In the Netherlands about 20 children per year are seriously affected. Following a prodromal phase of mostly bloody diarrhoea, the main symptoms become evident, namely, haemolytic an

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

    DEFF Research Database (Denmark)

    Yuan, Lei; Koivumaki, Jussi; Liang, Bo

    2014-01-01

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

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

    DEFF Research Database (Denmark)

    Bezzina, Connie; Barc, Julien; Mizusawa, Yuka

    2013-01-01

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

  18. Sotos syndrome

    Directory of Open Access Journals (Sweden)

    Cormier-Daire Valérie

    2007-09-01

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

  19. 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.

  20. Understanding and practice of "the Chinese expert consensus for the diagnosis and treatment of childhood myelodysplastic syndromes"%《儿童骨髓异常增生综合征诊治-中国专家共识》的理解与实践

    Institute of Scientific and Technical Information of China (English)

    谢晓恬

    2016-01-01

    Childhood myelodysplastic syndromes(MDS) is a disease with lower incidence and very difficult in clinical diagnosis and treatment."The Chinese expert consensus for the diagnosis and treatment of childhood myelodysplastic syndromes" recently recommended by Subspecialty Group of Hematology,the Society of Pediatrics,Chinese Medical Association,is a high academic significance of guidance documents to improve the efficacy of diagnosis and treatment,as well as relevant research of children with MDS in our country.This paper combined with the relevant lite-rature review at home and abroad in recent years and summed up the experience of clinical diagnosis and treatment,in order to contribute the promotion of this consensus of the experts.%儿童骨髓异常增生综合征(MDS)发病率较低,临床诊治难度较大.近期中华医学会儿科学分会血液学组推荐的《儿童骨髓增生异常综合征诊断与治疗-中国专家共识》是为提高我国临床对于儿童MDS的认识和诊治疗效,促进相关研究等具有很高学术意义的指导性文件.为了有助于该专家共识的有效推广,现结合近年国内外相关文献,归纳临床诊治方面的实践,以期对临床有一定参考价值.

  1. Dumping Syndrome

    Science.gov (United States)

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

  2. 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

  3. Asperger syndrome related suicidal behavior: two case studies.

    Science.gov (United States)

    Kocourkova, Jana; Dudova, Iva; Koutek, Jiri

    2013-01-01

    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.

  4. Birth Weight and Acute Childhood Leukemia: A Meta-analysis of Observational Studies

    Science.gov (United States)

    2007-11-02

    neurofibromatosis, Shwachman syndrome, Bloom syndrome, ataxia telangiectasia, Langerhans cell histiocytosis, and Klinefelter syndrome Increased...childhood leukemia (both ALL and AML) with maternal history of fetal loss14-16 while one study reported an inverse association.17 Some studies showed...about 1.5 times).124 There is little current insight into the natural history of acute leukemia in children and the likely timing of key

  5. 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.

  6. Cardiovascular Conditions of Childhood

    Science.gov (United States)

    ... diagnosed, treated and even cured in younger children. Kawasaki Disease This childhood illness can result in long-term ... complications. Learn the symptoms, diagnosis and treatment for Kawasaki disease. Cholesterol Raised cholesterol levels early in life may ...

  7. Stages of Childhood Craniopharyngioma

    Science.gov (United States)

    ... has any of the following: Headaches, including morning headache or headache that goes away after vomiting . Vision changes. Nausea ... Cancer Late Effects of Treatment for Childhood Cancer Adolescents and Young Adults with Cancer Children with Cancer: ...

  8. Childhood Craniopharyngioma Treatment

    Science.gov (United States)

    ... has any of the following: Headaches, including morning headache or headache that goes away after vomiting . Vision changes. Nausea ... Cancer Late Effects of Treatment for Childhood Cancer Adolescents and Young Adults with Cancer Children with Cancer: ...

  9. Stages of Childhood Rhabdomyosarcoma

    Science.gov (United States)

    ... It may be painful. Bulging of the eye. Headache. Trouble urinating or having bowel movements. Blood in ... Cancer Late Effects of Treatment for Childhood Cancer Adolescents and Young Adults with Cancer Children with Cancer: ...

  10. Childhood Astrocytomas Treatment

    Science.gov (United States)

    ... your child has any of the following: Morning headache or headache that goes away after vomiting . Nausea and vomiting. ... Cancer Late Effects of Treatment for Childhood Cancer Adolescents and Young Adults with Cancer Children with Cancer: ...

  11. Perinatal and Childhood Stroke

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2002-03-01

    Full Text Available The epidemiology, risk factors, outcome and prognosis of perinatal and childhood stroke were reviewed at a workshop sponsored by the National Institute of Neurological Disorders and Stroke in Bethesda, MD, on Sept 18 and 19, 2000.

  12. 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 ...

  13. Nutrition in childhood

    OpenAIRE

    Bartolo, Marie Claire

    2014-01-01

    Childhood is the stage in a human’s life associated with growth and development. Growth proceeds rapidly in early life, slows down in middle childhood and accelerates at puberty before linear growth ceases. With increasing age there is also physical and psychomotor maturation, which influences activity, body composition, feeding skills and food choices (Geissler, 2011). Adequate nutrition is essential for growth, health and development of children. Poor nutrition in...

  14. [The problems of diagnosis and correction of autism in children (an example of Asperger's syndrome)].

    Science.gov (United States)

    Iovchuk, N M; Severnyĭ, A A

    2014-01-01

    Based on the analysis of literature and own clinical experience, we discuss diagnostic issues of early autistic disorders in children. Main differential-diagnostic signs that permit to differentiate mild forms of autism in childhood diagnosed as Asperger's syndrome from childhood schizophrenia, residual organic CNS damage, circular affective disorders are described. Cases of Asperger's syndrome followed up for many years and recommendations for social and psychological adaptation of children and adolescents with Asperger's syndrome in different age periods are presented.

  15. Treosulfan, Fludarabine Phosphate, and Total-Body Irradiation Before Donor Stem Cell Transplant in Treating Patients With High-Risk Acute Myeloid Leukemia, Myelodysplastic Syndrome, Acute Lymphoblastic Leukemia

    Science.gov (United States)

    2013-10-29

    Accelerated Phase Chronic Myelogenous Leukemia; Adult Acute Lymphoblastic Leukemia in Remission; 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); 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 Myelomonocytic Leukemia; de Novo Myelodysplastic Syndromes; Previously Treated Myelodysplastic Syndromes; Recurrent Adult Acute Lymphoblastic Leukemia; Recurrent Adult Acute Myeloid Leukemia; Recurrent Childhood Acute Lymphoblastic Leukemia; Recurrent Childhood Acute Myeloid Leukemia; Secondary Myelodysplastic Syndromes; Untreated Adult Acute Lymphoblastic Leukemia; Untreated Childhood Acute Lymphoblastic Leukemia

  16. Childhood obesity: pathophysiology and treatment.

    Science.gov (United States)

    Klish, W J

    1995-02-01

    Childhood obesity is among the most difficult problems which pediatricians treat. It is frequently ignored by the pediatrician or viewed as a form of social deviancy, and blame for treatment failure placed on the patients or their families. The definition of obesity is difficult. Using total body electrical conductivity (TOBEC) technology, total body fat ranges between 12% and 30% of total body weight in normal children and adolescents. This is influenced not only by age, but also by physical fitness. Anthropometry is the easiest way to define obesity. Children whose weight exceeds 120% of that expected for their height are considered overweight. Skinfold thickness and body mass index are indices of obesity that are more difficult to apply to the child. Childhood obesity is associated with obese parents, a higher socioeconomic status, increased parental education, small family size and a sedentary lifestyle. Genetics also clearly plays a role. Studies have demonstrated that obese and non-obese individuals have similar energy intakes implying that obesity results from very small imbalances of energy intake and expenditure. An excess intake of only 418 kJ per day can result in about 4.5 kg of excess weight gain per year. Small differences in basal metabolic rate or the thermic effects of food may also account for the difference in energy balance between the obese and non-obese. In the Prader Willi Syndrome, there appears to be a link between appetite and body fatness. When placed on growth hormone, lean body mass increases, body fat decreases, sometimes to normal, and appetite becomes more normal.(ABSTRACT TRUNCATED AT 250 WORDS)

  17. Alternating hemiplegia of childhood: new diagnostic options.

    Science.gov (United States)

    Gergont, Aleksandra; Kaciński, Marek

    2014-01-01

    A syndrome of alternating hemiplegia of childhood (AHC) is a rare disorder first presented in 1971. AHC is characterized by transient episodes of hemiplegia affecting either one or both sides of the body. Age of onset is before 18 months and the common earliest manifestations are dystonic or tonic attacks and nystagmus. Hemiplegic episodes last minutes to days and the frequency and duration tend to decrease with time. Motor and intellectual development is affected, deficits may also develop later. Epileptic seizures occur in some patients. Neuroimaging of the brain usually reveals no abnormalities. The variability of individual clinical presentations and evolution of symptoms have made diagnosis difficult. Therefore the problems of misdiagnosis could account for the low prevalence of this syndrome. This paper hopes to present actual data on AHC, especially of the results of genetic research and new diagnostic tools.

  18. Serotonin syndrome

    Science.gov (United States)

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

  19. Association between angiotensin-converting enzyme 2 gene polymorphisms and childhood primary nephrotic syndrome%ACE2基因多态性与儿童原发性肾病综合征的相关性研究

    Institute of Scientific and Technical Information of China (English)

    邱明瑜; 谢琴芳; 王丽娜; 于力

    2015-01-01

    ObjectiveAngiotensin-converting enzyme 2 (ACE2) gene polymorphisms have been shown to be implicated in hypertension, diabetic nephropathy, and other diseases. However, it remains unclear whether ACE2 gene polymorphisms are involved in the development of primary nephrotic syndrome (PNS) in children. The aim of this study was to assess the association between A9570G polymorphisms of ACE2 gene and PNS in a group of Han children in Guangdong Province, China.MethodsThe genotype distribution and allele frequency of ACE2 gene A9570G in 66 children with PNS and 60 healthy subjects (control group) were analyzed by polymerase chain reaction and restriction fragment length polymorphism.ResultsAllele frequency and genotype distribution showed no signiifcant difference between the PNS and control groups whether in female or in male children (P>0.05). The PNS group was classiifed into the glucocorticoid-sensitive and glucocorticoid-resistant subgroups according to glucocorticoid treatment response. Subgroup analysis revealed that in female children, the frequency of GG genotype was 17% in the glucocorticoid-sensitive group vs 45% in the glucocorticoid-sensitive group (P=0.018); the frequency of G allele was 31% in the glucocorticoid-sensitive group vs 61% in the glucocorticoid-resistant group (P=0.023). In male children, the frequency of G genotype/G allele was 36% in the glucocorticoid-sensitive group vs 64% in the glucocorticoid-resistant group (P=0.017).ConclusionsThere is no clear association between ACE2 gene A9570G polymorphisms and childhood PNS, but ACE2 gene A9570G polymorphisms might be associated with glucocorticoid treatment response in children with PNS. The G allele might be a genetic susceptibility factor of glucocorticoid resistance in children with PNS.%目的:血管紧张素转换酶2(ACE2)基因多态性与高血压病、糖尿病肾病等多种疾病相关,是否参与儿童原发性肾病综合征(PNS)的发病尚不明确,该研

  20. 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.

  1. 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.

  2. 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

  3. Childhood trauma in bipolar disorder

    OpenAIRE

    Watson, Stuart; Gallagher, Peter; Dougall, Dominic; Porter, Richard; Moncrieff, Joanna; Ferrier, I Nicol; Young, Allan 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...

  4. Childhood trauma in bipolar disorder.

    OpenAIRE

    Watson, S; Gallagher, P.; Dougall, D.; Porter, R.; 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 bipolar...

  5. 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

  6. Everyday executive functions in Down syndrome from early childhood to young adulthood: Evidence for both unique and shared characteristics compared to youth with sex chromosome trisomy (XXX and XXY

    Directory of Open Access Journals (Sweden)

    Nancy Raitano Lee

    2015-10-01

    Full Text Available Executive functions (EF are thought to be impaired in Down syndrome (DS and sex chromosome trisomy (Klinefelter and Trisomy X syndromes; +1X. However, the syndromic specificity and developmental trajectories associated with EF difficulties in these groups are poorly understood. The current investigation (a compared everyday EF difficulties in youth with DS, +1X, and typical development (TD; and (b examined relations between age and EF difficulties in these two groups and a TD control group cross-sectionally. Study 1 investigated the syndromic specificity of EF profiles on the Behavior Rating Inventory of Executive Function (BRIEF in DS (n=30, +1X (n=30, and a TD group (n=30, ages 5-18 years. Study 2 examined age effects on EF in the same cross-sectional sample of participants included in Study 1. Study 3 sought to replicate Study 2’s findings for DS by examining age-EF relations in a large independent sample of youth with DS (n=85 and TD (n=43, ages 4-24 years. Study 1 found evidence for both unique and shared EF impairments for the DS and +1X groups. Most notably, youth with +1X had relatively uniform EF impairments on the BRIEF scales, while the DS group showed an uneven BRIEF profile with relative strengths and weaknesses. Studies 2 and 3 provided support for fairly similar age-EF relations in the DS and TD groups. In contrast, for the +1X group, findings were mixed; 6 BRIEF scales showed similar age-EF relations to the TD group and 2 showed greater EF difficulties at older ages for +1X. These findings will be discussed within the context of efforts to identify syndrome specific cognitive-behavioral profiles for youth with different genetic syndromes in order to inform basic science investigations into the etiology of EF difficulties in these groups and to develop treatment approaches that are tailored to the needs of these groups.

  7. Everyday executive functions in Down syndrome from early childhood to young adulthood: evidence for both unique and shared characteristics compared to youth with sex chromosome trisomy (XXX and XXY).

    Science.gov (United States)

    Lee, Nancy Raitano; Anand, Payal; Will, Elizabeth; Adeyemi, Elizabeth I; Clasen, Liv S; Blumenthal, Jonathan D; Giedd, Jay N; Daunhauer, Lisa A; Fidler, Deborah J; Edgin, Jamie O

    2015-01-01

    Executive functions (EF) are thought to be impaired in Down syndrome (DS) and sex chromosome trisomy (Klinefelter and Trisomy X syndromes; +1X). However, the syndromic specificity and developmental trajectories associated with EF difficulties in these groups are poorly understood. The current investigation (a) compared everyday EF difficulties in youth with DS, +1X, and typical development (TD); and (b) examined relations between age and EF difficulties in these two groups and a TD control group cross-sectionally. Study 1 investigated the syndromic specificity of EF profiles on the Behavior Rating Inventory of Executive Function (BRIEF) in DS (n = 30), +1X (n = 30), and a TD group (n = 30), ages 5-18 years. Study 2 examined age effects on EF in the same cross-sectional sample of participants included in Study 1. Study 3 sought to replicate Study 2's findings for DS by examining age-EF relations in a large independent sample of youth with DS (n = 85) and TD (n = 43), ages 4-24 years. Study 1 found evidence for both unique and shared EF impairments for the DS and +1X groups. Most notably, youth with +1X had relatively uniform EF impairments on the BRIEF scales, while the DS group showed an uneven BRIEF profile with relative strengths and weaknesses. Studies 2 and 3 provided support for fairly similar age-EF relations in the DS and TD groups. In contrast, for the +1X group, findings were mixed; 6 BRIEF scales showed similar age-EF relations to the TD group and 2 showed greater EF difficulties at older ages for +1X. These findings will be discussed within the context of efforts to identify syndrome specific cognitive-behavioral profiles for youth with different genetic syndromes in order to inform basic science investigations into the etiology of EF difficulties in these groups and to develop treatment approaches that are tailored to the needs of these groups.

  8. Atopic endotype in childhood

    DEFF Research Database (Denmark)

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

    2016-01-01

    against 28 inhalant and food allergens was assessed at ½, 1½, 4, 6, and 13 years of age in 399 children from the Copenhagen Prospective Study on Asthma in Childhood2000 birth cohort by using both skin prick test responses and specific IgE levels. Asthma and eczema were diagnosed longitudinally by strictly...... 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 ...%), eczema (26%), asthma (14%), or healthy status (24%). Conclusion: We found very little interdependency between asthma, eczema, and allergic sensitization through childhood. The associations between those entities were strongly dependent on age, type of allergens, and method of testing for sensitization...

  9. 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…

  10. Childhood Sexual Abuse and Suicide

    Science.gov (United States)

    ... 5 1 Molnar, B., Berkman, L., & Buka, S. (2001). Psychopathology, childhood sexual abuse, and other childhood adversities: Relative links ... 4 Shapiro, S. (1992). Suicidality and the sequelae of childhood victimization. In S. ... and psychopathology. NY: Lexington Books. 56 Goldsmith et al., (2000). ...

  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. 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.

  13. Diagnostic criteria for constitutional mismatch repair deficiency syndrome

    DEFF Research Database (Denmark)

    Wimmer, Katharina; Kratz, Christian P; Vasen, Hans F A;

    2014-01-01

    Constitutional mismatch repair deficiency (CMMRD) syndrome is a distinct childhood cancer predisposition syndrome that results from biallelic germline mutations in one of the four MMR genes, MLH1, MSH2, MSH6 or PMS2. The tumour spectrum is very broad, including mainly haematological, brain...

  14. Early onset (childhood) monogenic neuropathies.

    Science.gov (United States)

    Landrieu, Pierre; Baets, Jonathan

    2013-01-01

    Hereditary neuropathies (HN) with onset in childhood are categorized according to clinical presentation, pathogenic mechanism based on electrophysiology, genetic transmission and, in selected cases, pathological findings. Especially relevant to pediatrics are the items "secondary" versus "primary" neuropathy, "syndromic versus nonsyndromic," and "period of life." Different combinations of these parameters frequently point toward specific monogenic disorders. Ruling out a neuropathy secondary to a generalized metabolic disorder remains the first concern in pediatrics. As a rule, metabolic diseases include additional, orienting symptoms or signs, and their biochemical diagnosis is based on logical algorithms. Primary, motor sensory are the most frequent HN and are dominated by demyelinating autosomal dominant (AD) forms (CMT1). Other forms include demyelinating autosomal recessive (AR) forms, axonal AD/AR forms, and forms with "intermediate" electrophysiological phenotype. Peripheral motor neuron disorders are dominated by AR SMN-linked spinal muscular atrophies. (Distal) hereditary motor neuropathies represent 40 genes with various biological functions have been found to be responsible for primary HN. Many are responsible for various phenotypes, including some without the polyneuropathic trait, and some for various types of transmission.

  15. 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...

  16. A case of Netherton's syndrome with cerebral infarction.

    Science.gov (United States)

    Calikoğlu, E; Anadolu, R; Sanli, H; Erdem, C

    2001-01-01

    Netherton's syndrome, a rare congenital disease of childhood, is characterized by variable cutaneous erythematous eruptions with different manifestations. A five-year-old boy, who presented with ichthyosis linearis circumflexa, atopic manifestations and pili torti, had spastic hemiparesia due to cerebral infarction. Netherton's syndrome can easily be misdiagnosed as Leiner's disease, generalized psoriasis or nonbullous congenital ichthyosiform erythroderma, especially in the neonatal period, because of its nonspecific clinical and histological features. Pediatricians should consider this syndrome in the differential diagnosis of the generalized erythematous skin disorders of childhood associated with various abnormalities.

  17. 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.

  18. 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

  19. Thermoregulatory Instability in Childhood: Linking the Normal Brain to Hypothalamic Storm

    Directory of Open Access Journals (Sweden)

    William Alves Martins

    2016-01-01

    Full Text Available Central core temperature is tightly controlled by hypothalamic centers, a feature that makes sudden changes in body temperature very unusual. A dysfunction of these hypothalamic pathways leads to Shapiro’s syndrome, comprising spontaneous hypothermia, hyperhidrosis, and corpus callosum dysgenesis. Although it may affect any age, usually it presents in childhood. Variants to this syndrome with completely normal brain anatomy have been consistently reported, expanding the clinical spectrum of the syndrome. Herein, we report the case of a 4-year-old girl with Shapiro’s syndrome and unaffected corpus callosum.

  20. 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…

  1. Peer Relations in Childhood

    Science.gov (United States)

    Hay, Dale F.; Payne, Alexandra; Chadwick, Andrea

    2004-01-01

    We present a developmental model that describes normal peer relations and highlights processes that underlie the emergence of problems with peers in childhood. We propose that children's relationships with peers begin in the first years of life, with stable individual differences and preferences for particular peers emerging by three years of age.…

  2. 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...

  3. Childhood Vaccine Schedule

    Science.gov (United States)

    Skip Navigation Bar Home Current Issue Past Issues Childhood Vaccine Schedule Past Issues / Spring 2008 Table of Contents ... as pneumonia, blood infections, and bacterial meningitis Rotavirus vaccine (three ... in babies and young children 4 Months DTaP, Hib, IPV, PCV, RV 6 ...

  4. 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 re...

  5. The Teening of Childhood.

    Science.gov (United States)

    Hymowitz, Kay S.

    2000-01-01

    The market and advertising media aimed at children has skyrocketed in recent years. Many new products targeting 8-12-year-olds appeal to their sense of teen fashion, image consciousness, and independence from adults. Describes the development of this market aimed at early adolescents and how it is changing childhood as Americans have known it. (SM)

  6. 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.

  7. Treating childhood trauma.

    Science.gov (United States)

    Terr, Lenore C

    2013-01-01

    This review begins with the question "What is childhood trauma?" Diagnosis is discussed next, and then the article focuses on treatment, using 3 basic principles-abreaction, context, and correction. Treatment modalities and complications are discussed, with case vignettes presented throughout to illustrate. Suggestions are provided for the psychiatrist to manage countertransference as trauma therapy proceeds.

  8. 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…

  9. Childhood disintegrative disorder

    DEFF Research Database (Denmark)

    Mouridsen, Svend Erik

    2003-01-01

    are 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...

  10. Narrative Processes across Childhood

    Science.gov (United States)

    Mulvaney, Matthew Keefe

    2011-01-01

    According to the narrative perspective on personality development, personality is constructed largely by interpreting and representing experience in story format (scripts) over the course of the lifespan. The focus of this paper is to describe briefly the narrative perspective on personality development during childhood and adolescence, to discuss…

  11. 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

  12. 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…

  13. Childhood Ependymoma Treatment

    Science.gov (United States)

    ... causes the tissue to light up under a microscope. This type of test may be used to tell the ... Treatment for Childhood Cancer for more information). Four types of standard ... the tissue under a microscope to check for cancer cells . If cancer cells ...

  14. 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...

  15. Childhood Cancer: Osteosarcoma

    Science.gov (United States)

    ... Old Feeding Your 8- to 12-Month-Old Feeding Your 1- to 2-Year-Old Osteosarcoma KidsHealth > For Parents > Osteosarcoma Print A A A What's in this article? Risk for Childhood Osteosarcoma Symptoms of Osteosarcoma Diagnosing Osteosarcoma Treating Osteosarcoma ...

  16. Duplication 9q34 syndrome.

    OpenAIRE

    Allderdice, P. W.; Eales, B; Onyett, H; Sprague, W; Henderson, K; Lefeuvre, P A; PAL G

    1983-01-01

    Phenotypic, karyotypic, and developmental homology between affected children of carriers of an inverted insertion (9) (q22.1q34.3q34.1) led to recognition of a new chromosome syndrome: dup 9q34. Individuals with dup 9q34 have slight psychomotor retardation, understand simple directions, and acquire a limited vocabulary. In childhood, many are hyperactive. Clinical features include low birth weight, normal birth length, and initial poor feeding and thriving. Musculo-skeletal systems are affect...

  17. PFAPA syndrome: a review on treatment and outcome.

    Science.gov (United States)

    Vanoni, Federica; Theodoropoulou, Katerina; Hofer, Michaël

    2016-06-27

    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.

  18. 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.

  19. 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

  20. 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.

  1. 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…

  2. 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.

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

    Science.gov (United States)

    Rajkumar, Ravi Philip

    2015-01-01

    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.

  4. Gastaut type idiopathic childhood occipital epilepsy.

    Science.gov (United States)

    Ferrari-Marinho, Taissa; Macedo, Eugenia Fialho; Costa Neves, Rafael Scarpa; Costa, Lívia Vianez; Tudesco, Ivanda S S; Carvalho, Kelly C; Carrete, Henrique; Caboclo, Luis Otavio; Yacubian, Elza Marcia; Hamad, Ana Paula

    2013-03-01

    Gastaut type idiopathic childhood occipital epilepsy is an uncommon epileptic syndrome characterised by frequent seizures, most commonly presenting as elementary visual hallucinations or blindness. Other occipital (non-visual) symptoms may also occur. Interictal EEG typically shows occipital paroxysms, often with fixation-off sensitivity. Ictal EEG is usually characterised by interruption by paroxysms and sudden appearance of low-voltage, occipital, fast rhythm and/or spikes. Despite well described clinical and EEG patterns, to our knowledge, there are very few reports in the literature with video-EEG recording of either seizure semiology or fixation-off phenomena. We present a video-EEG recording of a 12-year-old girl with Gastaut type epilepsy, illustrating the interictal and ictal aspects of this syndrome. Our aim was to demonstrate the clinical and neurophysiological pattern of a typical seizure of Gastaut type epilepsy, as well as the fixation-off phenomena, in order to further clarify the typical presentation of this syndrome. [Published with video sequences].

  5. A retrospective survey of childhood glaucoma prevalence according to Childhood Glaucoma Research Network classification

    Directory of Open Access Journals (Sweden)

    Ambika Hoguet

    2016-01-01

    Full Text Available Purpose: To evaluate the Childhood Glaucoma Research Network (CGRN classification system and describe the prevalence of each subtype according to this classification. Materials and Methods: Retrospectively, the medical records of 205 consecutive childhood glaucoma and glaucoma suspect patients at an urban tertiary care center were reviewed. The initial diagnosis and new diagnosis according to CGRN classification were recorded. Results: All patients fit one of the seven categories of the new classification. Seventy-one percent of diagnoses were changed upon reclassification. Twenty-three percent of patients had primary glaucoma (juvenile open-angle glaucoma and primary congenital glaucoma [PCG]; 36% had secondary glaucoma (glaucoma associated with nonacquired ocular anomalies; glaucoma associated with nonacquired systemic disease or syndrome; glaucoma associated with acquired condition; and glaucoma following cataract surgery; and 39% were glaucoma suspect. Of the patients diagnosed with glaucoma, PCG was the most common diagnosis, seen in 32% of patients. Conclusion: The CGRN classification provides a useful method of classifying childhood glaucoma.

  6. Parasomnias in childhood.

    Science.gov (United States)

    Kotagal, Suresh

    2009-04-01

    Common childhood parasomnias, including those occurring at sleep onset and during rapid eye movement sleep or non-rapid eye movement sleep and their ontogeny are discussed. The events may be distressing to both the patient and family members. Stereotypic movements characteristic of some parasomnias most likely arise from disinhibition of subcortical central pattern generators. Genetic predisposition, an inherent instability of non-rapid eye movement sleep and underlying sleep disturbances such as obstructive sleep apnea may predispose to the activation of confusional arousals, sleep walking or sleep terrors. Many parasomnias can be recognized by history alone, but some require nocturnal polysomnography for appropriate diagnosis and management. A scheme to distinguish non-rapid eye movement sleep parasomnias from nocturnal seizures is provided. Behavioral therapy has a role in the management of many childhood parasomnias, but evidence based recommendations are as yet unavailable.

  7. 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.

  8. Danish Childhood Cancer Registry

    DEFF Research Database (Denmark)

    Schrøder, Henrik; Rechnitzer, Catherine; Wehner, Peder Skov

    2016-01-01

    AIM OF DATABASE: The overall aim is to monitor the quality of childhood cancer care in Denmark; to register late effects of treatment; to analyze complications of permanent central venous catheters (CVCs); to study blood stream infections in children with cancer; and to study acute toxicity of high......-dose methotrexate infusions in children with leukemia. STUDY POPULATION: All children below 15 years of age at diagnosis living in Denmark diagnosed after January 1, 1985 according to the International Classification of Diseases 10, including diagnoses DC00-DD48. MAIN VARIABLES: Cancer type, extent of disease......, and outcome of antimicrobial chemotherapy. DESCRIPTIVE DATA: Since 1985, 4,944 children below 15 years of age have been registered in the database. There has been no significant change in the incidence of childhood cancer in Denmark since 1985. The 5-year survival has increased significantly since 1985...

  9. Childhood Obstructive Sleep Apnea

    Directory of Open Access Journals (Sweden)

    R Dayal

    2014-03-01

    Full Text Available Obstructive sleep apnea (OSA is a common condition in childhood and can result insevere complications if left untreated. It is showing a rising trend in India. A significantassociation with obesity has been observed; however, some children with enlargedtonsils and/or adenoids may even be underweight. The patient usually presents withsnoring and other respiratory problems like mouth breathing, choking and gaspingepisodes in night. Poor school performance and neurocognitive deficits have beenreported. Pulmonary hypertension and cor pulmonale are seen in severe cases. Besidesthe history and clinical examination, for definitive diagnosis an overnightpolysomnographic evaluation is the gold standard. In all cases, the specific treatmentranges from simple lifestyle modifications and medications to surgeries likeadenotonsillectomy. Early diagnosis is vital.Key words: Childhood OSA, Obesity, adenotonsillar hypertrophy

  10. 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.

  11. 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.

  12. Childhood Cancer: Leukemia (For Parents)

    Science.gov (United States)

    ... problems — such as Li-Fraumeni syndrome, Down syndrome , Klinefelter syndrome , neurofibromatosis , ataxia telangectasia, or Fanconi's anemia — have ... cancers. The doctor also will take a medical history by asking about symptoms, past health, the family's ...

  13. 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, ...

  14. Metabolic Syndrome

    Science.gov (United States)

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

  15. Williams syndrome

    Science.gov (United States)

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

  16. 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...

  17. Thyroid cancer in childhood

    Energy Technology Data Exchange (ETDEWEB)

    Gorlin, J.B.; Sallan, S.E. (Children' s Hospital, Boston, MA (USA))

    1990-09-01

    The incidence, clinical presentation, and types of thyroid cancers presenting in childhood are reviewed. The role of antecedent radiation in papillary and follicular thyroid cancers and genetics of medullary thyroid carcinoma are discussed. Unique aspects of therapy and prognosis for the pediatric patient with thyroid carcinoma are addressed as well as a diagnostic approach to the child who presents with a neck mass.59 references.

  18. 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...

  19. Childhood Short Stature

    OpenAIRE

    Ray, J.

    2012-01-01

    Childhood short stature comprises Varity of endocrinal, systemic, Skeletal & genetic disorders of pediatrics and is not just confined for endocrinal disorder only. A systemic approach often reduces the need for test which is often expensive &unnecessary. Use growth chart & asses bone age during evaluation. Short & heavy child are generally due to Endocrine causes, Short & thin are due to systemic disease, Short with normal velocity are may be due to Constitutional delay in growth &puberty or ...

  20. Fatty liver in childhood

    OpenAIRE

    Ozturk,Yesim; Soylu, Ozlem Bekem

    2014-01-01

    Fatty liver is a growing health problem worldwide. It might evolve to nonalcoholic steatohepatitis, cirrhosis and cause hepatocellular carcinoma. This disease, which has increased because of eating habits, changes in food content and lifestyle, affects people from childhood. The most important risk factors are obesity and insulin resistance. Besides these factors, gender, ethnicity, genetic predisposition and some medical problems are also important. Cirrhosis in children is rare but is repor...

  1. Blau syndrome : cross-sectional data from a multicentre study of clinical, radiological and functional outcomes

    NARCIS (Netherlands)

    Rose, Carlos D.; Pans, Steven; Casteels, Ingele; Anton, Jordi; Bader-Meunier, Brigitte; Brissaud, Philippe; Cimaz, Roland; Espada, Graciella; Fernandez-Martin, Jorge; Hachulla, Eric; Harjacek, Miroslav; Khubchandani, Raju; Mackensen, Friederike; Merino, Rosa; Naranjo, Antonio; Oliveira-Knupp, Sheila; Pajot, Christine; Russo, Ricardo; Thomee, Caroline; Vastert, SJ; Wulffraat, Nico; Arostegui, Juan I.; Foley, Kevin P.; Bertin, John; Wouters, Carine H.

    2015-01-01

    Objective. To report baseline articular, functional and ocular findings of the first international prospective cohort study of Blau syndrome (BS). Methods. Three-year, multicentre, observational study on articular, functional (HAQ, Childhood HAQ and VAS global and pain), ophthalmological, therapeuti

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

    Directory of Open Access Journals (Sweden)

    Hassan Zamani

    2012-01-01

    Full Text Available 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.

  3. 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.

  4. 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...

  5. Peer Bullying During Early Childhood

    OpenAIRE

    Uysal, Hatice; DİNÇER, Çağlayan

    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...

  6. General Information about Childhood Liver Cancer

    Science.gov (United States)

    ... Liver Cancer Prevention Liver Cancer Screening Research Childhood Liver Cancer Treatment (PDQ®)–Patient Version General Information About Childhood Liver Cancer Go to Health Professional Version Key Points Childhood ...

  7. Genetics Home Reference: alternating hemiplegia of childhood

    Science.gov (United States)

    ... Home Health Conditions alternating hemiplegia of childhood alternating hemiplegia of childhood Enable Javascript to view the expand/ ... Download PDF Open All Close All Description Alternating hemiplegia of childhood is a neurological condition characterized by ...

  8. Treatment Options for Childhood Acute Lymphoblastic Leukemia

    Science.gov (United States)

    ... Childhood AML Treatment Research Childhood Acute Lymphoblastic Leukemia Treatment (PDQ®)–Patient Version General Information About Childhood Acute ... Myelogenous Leukemia Treatment Hairy Cell Leukemia Treatment Past treatment for cancer and certain genetic conditions affect the ...

  9. Treatment Options for Childhood Hodgkin Lymphoma

    Science.gov (United States)

    ... Treatment Childhood NHL Treatment Research Childhood Hodgkin Lymphoma Treatment (PDQ®)–Patient Version General Information About Childhood Hodgkin ... Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery ) and treatment ...

  10. Unusual ocular manifestations of silent sinus syndrome

    Directory of Open Access Journals (Sweden)

    Fabricio Lopes da Fonseca

    2014-01-01

    Full Text Available Silent sinus syndrome is an acquired condition in which there is a gradual collapse of the orbital floor and inward retraction of the maxillary sinus (atelectasis of the maxillary sinus. This in turn may cause associated ocular occurrences of enophthalmos and hypotropia. This is a report of an 8 year-old boy with silent sinus syndrome and associated ocular motility disorders. The association between silent sinus syndrome and ocular motility disturbance has been recently described in the literature. However, this is an infrequent association, mainly in childhood.

  11. Common pediatric epilepsy syndromes.

    Science.gov (United States)

    Park, Jun T; Shahid, Asim M; Jammoul, Adham

    2015-02-01

    Benign rolandic epilepsy (BRE), childhood idiopathic occipital epilepsy (CIOE), childhood absence epilepsy (CAE), and juvenile myoclonic epilepsy (JME) are some of the common epilepsy syndromes in the pediatric age group. Among the four, BRE is the most commonly encountered. BRE remits by age 16 years with many children requiring no treatment. Seizures in CAE also remit at the rate of approximately 80%; whereas, JME is considered a lifelong condition even with the use of antiepileptic drugs (AEDs). Neonates and infants may also present with seizures that are self-limited with no associated psychomotor disturbances. Benign familial neonatal convulsions caused by a channelopathy, and inherited in an autosomal dominant manner, have a favorable outcome with spontaneous resolution. Benign idiopathic neonatal seizures, also referred to as "fifth-day fits," are an example of another epilepsy syndrome in infants that carries a good prognosis. BRE, CIOE, benign familial neonatal convulsions, benign idiopathic neonatal seizures, and benign myoclonic epilepsy in infancy are characterized as "benign" idiopathic age-related epilepsies as they have favorable implications, no structural brain abnormality, are sensitive to AEDs, have a high remission rate, and have no associated psychomotor disturbances. However, sometimes selected patients may have associated comorbidities such as cognitive and language delay for which the term "benign" may not be appropriate.

  12. Landau-Kleffner Syndrome: An Exploration of Parent Experience of the Diagnostic Process

    Science.gov (United States)

    Lemard-Reid, Daunette

    2014-01-01

    Landau-Kleffner syndrome (LKS) is a rare childhood disorder that is often misdiagnosed as autism or childhood psychosis because of overlapping symptom presentation. Favorable prognoses in LKS depend on early diagnosis and treatment. While much is known about the clinical basis for LKS diagnosis, little is known about parents' lived experience with…

  13. Myelodysplastic and myeloproliferative disorders of childhood

    DEFF Research Database (Denmark)

    Hasle, Henrik

    2016-01-01

    Myelodysplastic syndrome (MDS) and myeloproliferative disorders are rare in children; they are divided into low-grade MDS (refractory cytopenia of childhood [RCC]), advanced MDS (refractory anemia with excess blasts in transformation), and juvenile myelomonocytic leukemia (JMML), each...... with refractory anemia with excess blasts are candidates for HSCT; children age 12 years or older have a higher risk of treatment-related death, and the conditioning regimens should be adjusted accordingly. Unraveling the genetics of JMML has demonstrated that JMML in patients with germ line PTPN11 and CBL...... with different characteristics and management strategies. Underlying genetic predisposition is recognized in an increasing number of patients. Germ line GATA2 mutation is found in 70% of adolescents with MDS and monosomy 7. It is challenging to distinguish RCC from aplastic anemia, inherited bone marrow failure...

  14. 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.

  15. Profile of childhood epilepsy in Bangladesh.

    Science.gov (United States)

    Banu, Selina H; Khan, Naila Z; Hossain, Mahmuda; Jahan, Anisa; Parveen, Monwara; Rahman, Narsis; Boyd, Stewart H; Neville, Brian

    2003-07-01

    Very little is known about childhood epilepsies in Bangladesh. This study was conducted within a national children's hospital in Dhaka city to provide baseline information on diagnosis and clinical outcomes of 151 children (98 males, 53 females, age range between 2 months to 15 years, median age of 3 years). Participants who presented with recurrent unprovoked seizures were followed up in an epilepsy clinic for at least 1 year. Of presenting families, 68.3% were from middle-income and lower-income groups. A history of perinatal asphyxia and neonatal seizures was present in 46.4% and 41.1% of participants respectively. Generalized, partial, and unclassifiable epilepsy were found in 63.6%, 25.2%, and 11.2% respectively. Severe outcome (malignant) epilepsy syndromes were diagnosed in 14.6%. Symptomatic epilepsy was found in 61%. Poor cognitive development was present in 72.8% and poor adaptive behaviour in 57%. Poor seizure remission occurred in 50.3%. Factors most predictive of poor seizure remission were: multiple types of seizures, poor cognition at presentation, high rates of seizures, associated motor disability, and EEG abnormalities. The study suggests that most children presenting at tertiary hospitals for seizure disorders come late and with associated neurodevelopmental morbidities. Specialized services are needed closer to their homes. The process for establishing early referral and comprehensive management of childhood epilepsies in Bangladesh requires further study.

  16. Síndrome antifosfolípide e trombocitopenia na infância Síndrome antifosfolípido y trombocitopenia en la infancia: relato de caso Antiphospholipid syndrome and thrombocytopenia in childhood

    Directory of Open Access Journals (Sweden)

    Roberta Bittencourt F. Turini

    2012-09-01

    Full Text Available OBJETIVO: Relatar o caso de uma criança com diagnóstico de síndrome do anticorpo antifosfolípide associada à trombocitopenia grave e realizar uma revisão de literatura sobre o assunto. DESCRIÇÃO DO CASO: Criança de nove anos e oito meses de idade com trombocitopenia grave associada a anticorpo anticardiolipina positivo. Os dados foram coletados por meio de anamnese, exame físico e exames complementares da paciente. O diagnóstico foi determinado de acordo com os critérios estabelecidos para a síndrome antifosfolípide, associados às manifestações mais comuns na faixa etária pediátrica: livedo reticular e trombocitopenia. COMENTÁRIOS: A síndrome do anticorpo antifosfolípide é uma doença incomum na população pediátrica e suas manifestações clínicas, com a redução do número de plaquetas, devem ser consideradas.OBJETIVO: Relatar el caso de un niño con diagnóstico de síndrome del anticuerpo antifosfolípido asociado a trombocitopenia grave y realizar una revisión de literatura sobre el tema. DESCRIPCIÓN DEL CASO: Niño de nueve años y ocho meses de edad, con trombocitopenia grave asociada a anticuerpo anticardiolipina positivo. Los datos fueron recogidos por medio de historia, examen físico y exámenes complementarios de la paciente internada en un hospital de Curitiba, en Paraná (Brasil. El diagnóstico fue determinado conforme a los criterios establecidos para el síndrome antifosfolípido, asociados a las manifestaciones más comunes en la franja de edad pediátrica: livedo recticular y trombocitopenia. COMENTARIOS: El síndrome del anticuerpo antifosfolípido es una enfermedad poco común en la población pediátrica, y su manifestación con reducción del número de plaquetas debe ser considerada.OBJECTIVE: To report the case of a child diagnosed with antiphospholipid syndrome associated with severe thrombocytopenia, and to review the literature on the subject. CASE DESCRIPTION: Child aged nine years and

  17. Congenital and acquired neutropenias consensus guidelines on therapy and follow-up in childhood from the Neutropenia Committee of the Marrow Failure Syndrome Group of the AIEOP (Associazione Italiana Emato-Oncologia Pediatrica).

    Science.gov (United States)

    Fioredda, Francesca; Calvillo, Michaela; Bonanomi, Sonia; Coliva, Tiziana; Tucci, Fabio; Farruggia, Piero; Pillon, Marta; Martire, Baldassarre; Ghilardi, Roberta; Ramenghi, Ugo; Renga, Daniela; Menna, Giuseppe; Pusiol, Anna; Barone, Angelica; Gambineri, Eleonora; Palazzi, Giovanni; Casazza, Gabriella; Lanciotti, Marina; Dufour, Carlo

    2012-02-01

    The management of congenital and acquired neutropenias presents some differences according to the type of the disease. Treatment with recombinant human granulocyte-colony stimulating factor (G-CSF) is not standardized and scanty data are available on the best schedule to apply. The frequency and the type of longitudinal controls in patients affected with neutropenias are not usually discussed in the literature. The Neutropenia Committee of the Marrow Failure Syndrome Group (MFSG) of the Associazione Italiana di Emato-Oncologia Pediatrica (AIEOP) elaborated this document following design and methodology formerly approved by the AIEOP board. The panel of experts reviewed the literature on the topic and participated in a conference producing a document that includes recommendations on neutropenia treatment and timing of follow-up.

  18. 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…

  19. Early Childhood Inclusion in Spain

    Science.gov (United States)

    Giné, Climent; Balcells-Balcells, Anna; Cañadas, Margarita; Paniagua, Gema

    2016-01-01

    This article describes early childhood inclusion in educational settings in Spain. First, we address the legislative framework of preschool education in Spain and offer a brief analysis of some relevant issues, including the current situation of early childhood education and inclusion at this stage. Second, current policies and practices relating…

  20. Childhood Victimization and Lifetime Revictimization

    Science.gov (United States)

    Widom, Cathy Spatz; Czaja, Sally J.; Dutton, Mary Ann

    2008-01-01

    Objective: To examine the fundamental hypothesis that childhood victimization leads to increased vulnerability for subsequent (re)victimization in adolescence and adulthood and, if so, whether there are differences in rates of experiencing traumas and victimizations by gender, race/ethnicity, and type of childhood abuse and/or neglect. Methods:…

  1. 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.

  2. Increasing Childhood Influenza Vaccination

    Science.gov (United States)

    Nowalk, Mary Patricia; Lin, Chyongchiou J.; Hannibal, Kristin; Reis, Evelyn C.; Gallik, Gregory; Moehling, Krissy K.; Huang, Hsin-Hui; Allred, Norma J.; Wolfson, David H.; Zimmerman, Richard K.

    2014-01-01

    Background Since the 2008 inception of universal childhood influenza vaccination, national rates have risen more dramatically among younger children than older children and reported rates across racial/ethnic groups are inconsistent. Interventions may be needed to address age and racial disparities to achieve the recommended childhood influenza vaccination target of 70%. Purpose To evaluate an intervention to increase childhood influenza vaccination across age and racial groups. Methods In 2011–2012, 20 primary care practices treating children were randomly assigned to Intervention and Control arms of a cluster randomized controlled trial to increase childhood influenza vaccination uptake using a toolkit and other strategies including early delivery of donated vaccine, in-service staff meetings, and publicity. Results The average vaccination differences from pre-intervention to the intervention year were significantly larger in the Intervention arm (n=10 practices) than the Control arm (n=10 practices), for children aged 2–8 years (10.2 percentage points (pct pts) Intervention vs 3.6 pct pts Control) and 9–18 years (11.1 pct pts Intervention vs 4.3 pct pts Control, p<0.05), for non-white children (16.7 pct pts Intervention vs 4.6 pct pts Control, p<0.001), and overall (9.9 pct pts Intervention vs 4.2 pct pts Control, p<0.01). In multi-level modeling that accounted for person- and practice-level variables and the interactions among age, race and intervention, the likelihood of vaccination increased with younger age group (6–23 months), white race, commercial insurance, the practice’s pre-intervention vaccination rate, and being in the Intervention arm. Estimates of the interaction terms indicated that the intervention increased the likelihood of vaccination for non-white children in all age groups and white children aged 9–18 years. Conclusions A multi-strategy intervention that includes a practice improvement toolkit can significantly improve influenza

  3. Thyroid autoimmunity and polyglandular endocrine syndromes.

    Science.gov (United States)

    Wémeau, Jean-Louis; Proust-Lemoine, Emmanuelle; Ryndak, Amélie; Vanhove, Laura

    2013-01-01

    Even though autoimmune thyroiditis is considered as the most emblematic type of organ-specific autoimmune disorder of autoimmunity, autoimmune thyroid diseases can be associated with other autoimmune endocrine failures or non-endocrine diseases (namely vitiligo, pernicious anemia, myasthenia gravis, autoimmune gastritis, celiac disease, hepatitis). Thyroid disorders, which are the most frequent expression of adult polyendocrine syndrome type 2, occur concomitantly with or secondarily to insulinodependent diabetes, premature ovarian failure, Addison's disease (Schmidt syndrome, or Carpenter syndrome if associated with diabetes). Testicular failure and hypoparathyroidism are unusual. The disease is polygenic and multifactorial. Disorders of thyroid autoimmunity are, surprisingly, very rare in polyendocrine syndrome type 1 (or APECED) beginning during childhood. They are related to mutations of the AIRE gene that encodes for a transcriptional factor implicated in central and peripheral immune tolerance. Hypothyroidism can also be observed in the very rare IPEX and POEMS syndromes.

  4. Lack of SLC2A1 (glucose transporter 1) mutations in 30 Italian patients with alternating hemiplegia of childhood.

    Science.gov (United States)

    De Grandis, Elisa; Stagnaro, Michela; Biancheri, Roberta; Giannotta, Melania; Gobbi, Giuseppe; Traverso, Monica; Veneselli, Edvige; Zara, Federico

    2013-07-01

    Alternating hemiplegia of childhood is a rare, predominantly sporadic disorder. Diagnosis is clinical, and little is known about genetics. Glucose transporter 1 deficiency syndrome shares with alternating hemiplegia of childhood paroxysmal and nonparoxysmal symptoms. The aim of the study was to investigate glucose transporter 1 mutations in 30 Italian patients. Genetic material was analyzed by DNA amplification and glucose transporter 1 region sequencing. Mutational analysis findings of the SLC2A1 gene were negative in all patients. The pattern of movement disorders was reviewed. Interictal dystonia and multiple paroxysmal events were typical of alternating hemiplegia of childhood. In conclusion, alternating hemiplegia of childhood is a heterogeneous clinical condition, and although glucose transporter 1 deficiency can represent an undiagnosed cause of this disorder, mutational analysis is not routinely recommended. Alternatively, a careful clinical analysis and the 3-O-methyl-D-glucose uptake test can allow prompt identification of a subgroup of patients with alternating hemiplegia of childhood treatable with a ketogenic diet.

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

    Institute of Scientific and Technical Information of China (English)

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

    2007-01-01

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

  6. Managing Neonatal and Early Childhood Syndromic Sepsis in Sub-District Hospitals in Resource Poor Settings: Improvement in Quality of Care through Introduction of a Package of Interventions in Rural Bangladesh

    Science.gov (United States)

    Iqbal, Afrin; Hoque, D. M. Emdadul; Moinuddin, Md.; Zaman, Sojib Bin; Rahman, Qazi Sadeq-ur; Begum, Tahmina; Chowdhury, Atique Iqbal; Haider, Rafiqul; Arifeen, Shams El; Kissoon, Niranjan; Larson, Charles P.

    2017-01-01

    Introduction Sepsis is dysregulated systemic inflammatory response which can lead to tissue damage, organ failure, and death. With an estimated 30 million cases per year, it is a global public health concern. Severe infections leading to sepsis account for more than half of all under five deaths and around one quarter of all neonatal deaths annually. Most of these deaths occur in low and middle income countries and could be averted by rapid assessment and appropriate treatment. Evidence suggests that service provision and quality of care pertaining to sepsis management in resource poor settings can be improved significantly with minimum resource allocation and investments. Cognizant of the stark realities, a project titled ‘Interrupting Pathways to Sepsis Initiative’ (IPSI) introduced a package of interventions for improving quality of care pertaining to sepsis management at 2 sub-district level public hospitals in rural Bangladesh. We present here the quality improvement process and achievements regarding some fundamental steps of sepsis management which include rapid identification and admission, followed by assessment for hypoxemia, hypoglycaemia and hypothermia, immediate resuscitation when required and early administration of parenteral broad spectrum antibiotics. Materials and Method Key components of the intervention package include identification of structural and functional gaps through a baseline environmental scan, capacity development on protocolized management through training and supportive supervision by onsite ‘Program Coaches’, facilitating triage and rapid transfer of patients through ‘Welcoming Persons’ and enabling rapid treatment through ‘Task Shifting’ from on-call physicians to on-duty paramedics in the emergency department and on-call physicians to on-duty nurses in the inpatient department. Results From August, 2013 to March, 2015, 1,262 under-5 children were identified as syndromic sepsis in the emergency departments; of

  7. The comparison of current and previous (2002) editions of American clinical practice guideline: diagnosis and management of childhood obstructive sleep apnea syndrome%美国新版《儿童睡眠呼吸暂停综合征诊治指南》与2002版指南的比较

    Institute of Scientific and Technical Information of China (English)

    邓力; 印根权

    2013-01-01

    2012年8月27日,美国儿科学会杂志在线发布了新版,意在指导初级保健医师对儿童青少年OSAS的诊断与治疗.自从前一版 (2002版) 指南发表后,有关OSAS研究的文献质量有明显提高.新版指南是在参考1999至2010年间发表的3 166篇文献中的350篇文献相关数据基础上所制定的.本文主要比较新版指南与2002版的不同,以及十年间对儿童OSAS认识的变化.%The current clinical practice guideline, diagnosis and management of childhood obstructive sleep apnea syndrome (OSAS), was issued in Pediatrics on line by American academy of pediatrics on August 27th, 2012. This revised guideline, intended for use by primary earc clinicians, provides recommesdations for the diagnosis and management of OSAS in children and adolescents. Since the previous guideline (version 2002) was published, studies of OSAS have bees improved significantly. The current guideline was formulated according to the relevant data from 350 of 3166 articles published from 1999 to 2010. What are the differences between the two guidelines? What are the greatest changes in cbildhood OSAS in the past 10 years? This article will focus on the comparison between these two guidelines.

  8. Autoinflammatory syndromes behind the scenes of recurrent fevers in children.

    Science.gov (United States)

    Rigante, Donato

    2009-08-01

    Many children experience recurrent fevers with no easily identifiable source and only a careful follow-up helps in the early identification of other presenting symptoms of other defined conditions which require medical intervention. Autoinflammatory syndromes are rare childhood-onset disorders of the innate immunity in which recurrent flares of fever and inflammation affecting skin, joints, the gastrointestinal tube, or serous membranes are the most striking signs, without any evidence of autoantibody production or underlying infections. Among the pediatric conditions belonging to this group we can consider hereditary recurrent fevers (familial Mediterranean fever, mevalonate kinase deficiency syndrome, tumor necrosis factor receptor-associated periodic syndrome, cryopyrin-associated periodic syndromes), pyogenic disorders (PAPA syndrome, CRMO syndrome, Majeed syndrome), immune-mediated granulomatous diseases (Blau syndrome, Crohn's disease), and idiopathic febrile syndromes (systemic-onset juvenile idiopathic arthritis, PFAPA syndrome, Behçet syndrome). Their genetic background has only been partially elucidated and advances in their molecular pathogenesis are shedding new light on the innate immune system, whilst more and more diseases are being reconsidered at a pathogenetic level and included in this new chapter of postgenomic medicine. The diagnosis of most autoinflammatory syndromes relies on clinical history, demonstration of an increased acute-phase response during inflammatory attacks, and, possibly, genetic confirmation, which is still elusive especially for idiopathic febrile syndromes. This astonishing progress in the awareness and knowledge of autoinflammatory syndromes has anticipated the actual possibilities of medical intervention and rationalized treatment with targeted biologic agents.

  9. Management of childhood stuttering.

    Science.gov (United States)

    Onslow, Mark; O'Brian, Sue

    2013-02-01

    Stuttering is a speech disorder that begins during the first years of life and is among the most prevalent of developmental disorders. It appears to be a problem with neural processing of speech involving genetics. Onset typically occurs during the first years of life, shortly after language development begins. Clinical presentation during childhood is interrupted and effortful speech production, often with rapid onset. If not corrected during early childhood, it becomes intractable and can cause psychological, social, educational and occupational problems. There is evidence from replicated clinical trials to support early intervention during the pre-school years. Meta-analysis of studies indicates that children who receive early intervention during the pre-school years are 7.7 times more likely to have resolution of their stuttering. Early intervention is recommended with a speech pathologist. Some children who begin to stutter will recover without such intervention. However, the number of such recoveries is currently not known, and it is not possible to predict which children are likely to recover naturally. Consequently, the current best practice is for speech pathologists to monitor children for signs of natural recovery for up to 1 year before beginning treatment.

  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. Dumping syndrome after esophageal atresia repair without antireflux surgery.

    Science.gov (United States)

    Michaud, Laurent; Sfeir, Rony; Couttenier, Frédéric; Turck, Dominique; Gottrand, Frédéric

    2010-04-01

    In childhood, the surgical treatment of gastroesophageal reflux is the main cause of dumping syndrome. We report the cases of 2 children with esophageal atresia who presented with dumping syndrome without any precipitating known factors, such as gastroesophageal reflux surgery or associated microgastria. Our data suggest (1) that dumping syndrome can occur after primary anastomosis of esophageal atresia without antireflux surgery and (2) that dumping syndrome should be considered in every child treated surgically for esophageal atresia presenting with digestive symptoms, malaise, failure to thrive, or refusal to eat.

  13. Childhood Sexual Abuse

    Directory of Open Access Journals (Sweden)

    Evrim Aktepe

    2009-08-01

    Full Text Available Sexual abuse is defined as use of child or adolescent by the adults for satisfying of sexual urges and needs with forcing, threatening or tricking. Sexual abuse can be in the form of sexual abuse without touch, sexual touch, interfemoral intercourse, sexual penetration, and sexual exploitation. The prevalence of sexual abuse is reported as 10-40%. It is seen in female four times more than in males. Abusers are frequently male, only 5-15% of them are female. The abuse by females is usually towards male child. Thirty-fifty percent of abuse cases among child and adolescent are outside the family including strangers or familiar person. Some features of abusers are introvert personality, pedophilic and antisocial personality. Most of the abusers have a history of sexual abuse or aggression during childhood. Sexual intercourse between two people who are not allowed to marry by law is called as incest. Family pattern of incest is defined globally as disorganized and dysfunctional. The most commonly reported familial pattern is rigid and patriarchal family pattern with a harsh father using force quite frequently. The clinical features and impacts of the sexual abuse on the child varies according to the relation between abusers and the child, form of abuse, duration of abuse, presence of physical assault, developmental phase, child age and psychological development before the abuse. Sexual abuse history may result in psychiatric disorders including anxiety, depression, substance dependence, suicide act, borderline personality disorder, posttraumatic stress disorder. Abuse negatively affects interpersonal relationships and self esteem of abused individuals. Several studies reported close association between risky sexual behaviors in adulthood and a history of of sexual abuse during childhood. Four traumatic dynamics including traumatic sexuality with abuse, feeling of betrayal, weakness, and stigmatization exist in childhood abuse. Trauma can cause

  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. 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.

  16. 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.

  17. Pyoderma gangrenosum in childhood

    Directory of Open Access Journals (Sweden)

    Khatri M

    1995-01-01

    Full Text Available We have treated 4 cases of pyoderma gangrenosum in infancy and childhood in past 2 years. The ages at onset were 6 months, 8 months, 6 months and 11.5 years respectively. Initial lesions were papulopustular in 3 and nodular in 1 patients but later on all of them developed ulcerative lesions with erythematous, violaceous, infiltrated or undermined edges. The lesions were numerous in 3 patients but few in 1 patient. The first patient had very high leucocyte count. In the second patient skin lesions of PG followed measles vaccinations. We could not reveal any association in the other two patients. None of the patient responded to antibiotic therapy. Three patients were treated successfully with dapsone and one with a combination of dapsone and prednisolone. We conclude that pyoderma gangrenosum is not so rare in infancy and it is more likely to occur without associated systemic diseases.

  18. Fatty liver in childhood

    Institute of Scientific and Technical Information of China (English)

    Yesim; Ozturk; Ozlem; Bekem; Soylu

    2014-01-01

    Fatty liver is a growing health problem worldwide. It might evolve to nonalcoholic steatohepatitis, cirrhosis and cause hepatocellular carcinoma. This disease, which has increased because of eating habits, changes in food content and lifestyle, affects people from childhood. The most important risk factors are obesity and insulin resistance. Besides these factors, gender, ethnicity, genetic predisposition and some medical problems are also important. Cirrhosis in children is rare but is reported. Nonalcoholic fatty liver disease(NAFLD) has no specific symptoms or signs but should be considered in obese children. NAFLD does not have a proven treatment. Weight loss with family based treatments is the most acceptable management. Exercise and an applicable diet with low glycemic index and appropriate calorie intake are preferred. Drugs are promising but not sufficient in children for today.

  19. [Food allergy in childhood].

    Science.gov (United States)

    Beyer, Kirsten; Niggemann, Bodo

    2016-06-01

    IgE-mediated immediate type reactions are the most common form of food allergy in childhood. Primary (often in early childhood) and secondary (often pollen-associated) allergies can be distinguished by their level of severity. Hen's egg, cow's milk and peanut are the most common elicitors of primary food allergy. Tolerance development in hen's egg and cow's milk allergy happens frequently whereas peanut allergy tends toward a lifelong disease. For the diagnostic patient history, detection of sensitization and (in many cases) oral food challenges are necessary. Especially in peanut and hazelnut allergy component-resolves diagnostic (measurement of specific IgE to individual allergens, e. g. Ara h 2) seem to be helpful. In regard to therapy elimination diet is still the only approved approach. Patient education through dieticians is extremely helpful in this regard. Patients at risk for anaphylactic reactions need to carry emergency medications including an adrenaline auto-injector. Instruction on the usage of the adrenaline auto-injector should take place and a written management plan handed to the patient. Moreover, patients or caregivers should be encouraged to attending a structured educational intervention on knowledge and emergency management. In parallel, causal therapeutic options such as oral, sublingual or epicutaneous immunotherapies are currently under development. In regard to prevention of food allergy current guidelines no longer advise to avoid highly allergenic foods. Current intervention studies are investigating wether early introduction of highly allergic foods is effective and safe to prevent food allergy. It was recently shown that peanut introduction between 4 and 11  months of age in infants with severe atopic dermatitis and/or hen's egg allergy (if they are not already peanut allergic) prevents peanut allergy in a country with high prevalence.

  20. Trends in childhood disease.

    Science.gov (United States)

    Pallapies, Dirk

    2006-09-28

    Child mortality has declined remarkably during the last decades. While neonatal disorders, diarrhoea, pneumonia, and malaria as well as being underweight account for most of the child deaths worldwide, children's health discussions in Europe and the USA focus on other issues such as asthma, neurodevelopmental disorders, male genital malformations, and childhood cancer. There is clear evidence of increasing rates of asthma in various countries during the last decades, although rates in some countries may now have stabilised or even decline as recent UK data indicate. Although an increase in the frequency of neurodevelopmental disorders such as autism and attention deficit disorder has frequently been discussed, the limited data in this field does not justify such a conclusion. While geographic heterogeneity regarding reproductive outcomes is apparent, global trends have not been identified. Interpretation of the available information on asthma, neurodevelopmental disorders and reproductive outcomes is hampered by inconstant diagnostic criteria over place and time and the lack of good and comprehensive population-based surveillance data, which makes it impossible to ascertain trends in actual disease frequency. Data indicate that developed countries have a gradually increasing incidence in leukaemia with a corresponding drop in the incidence of lymphoma. Increases in brain tumour frequency may be related to the development and wide application of new diagnostic capabilities, rather than a true change in the incidence of malignant disease. With a better prognosis for childhood cancer survival, secondary cancers following chemotherapy appear to be increasing. A wide range of environmental factors is thought to have an impact on children's health. These factors include nutrition (protein, vitamins, antioxidants), lifestyle and behaviour choices such as tobacco and alcohol use, parental health, socio-economic status, choice of living environment (urban versus rural, etc

  1. SCN1A-related Dravet syndrome : Vaccinations and seizure precipitants in disease course and diagnosis

    NARCIS (Netherlands)

    Verbeek, N.E.

    2015-01-01

    Febrile seizures are well known adverse events following childhood vaccinations. If a seizure following vaccination is the first of an evolving epilepsy syndrome, the vaccination might be misinterpreted as the primary cause of the epilepsy. Dravet syndrome (formerly known as severe myoclonic epileps

  2. Stages of Childhood Hodgkin Lymphoma

    Science.gov (United States)

    ... Treatment Adult NHL Treatment AIDS-Related Lymphoma Treatment Mycosis Fungoides & Sézary Syndrome Treatment Primary CNS Lymphoma Treatment ... Treatment Adult NHL Treatment AIDS-Related Lymphoma Treatment Mycosis Fungoides & Sézary Syndrome Treatment Primary CNS Lymphoma Treatment ...

  3. Prevalence and association between obesity and metabolic syndrome among Chinese elementary school children: a school-based survey

    OpenAIRE

    Liu AiLing; Lin Rong; Liu WeiJia; Du Lin; Chen Qing

    2010-01-01

    Abstract Background China has experienced an increase in the prevalence of childhood overweight/obesity over the last decades. The purpose of this study was to examine the prevalence of obesity and metabolic syndrome among Chinese school children and determine if there is a significant association between childhood obesity and metabolic syndrome. Methods A cross-sectional study was conducted among 1844 children (938 males and 906 females) in six elementary schools at Guangzhou city from April...

  4. Edwards' syndrome.

    Science.gov (United States)

    Crawford, Doreen; Dearmun, Annette

    2016-12-08

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

  5. 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 ...

  6. Angelman Syndrome

    Science.gov (United States)

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

  7. Lynch Syndrome

    Science.gov (United States)

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

  8. Cushing's Syndrome

    Science.gov (United States)

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

  9. Paraneoplastic Syndromes

    Science.gov (United States)

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

  10. 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 ...

  11. Dravet Syndrome

    Science.gov (United States)

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

  12. Apert Syndrome.

    Science.gov (United States)

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

    2014-09-01

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

  13. Fiber Intake and Childhood Appendicitis.

    Science.gov (United States)

    Brender, Jean D.; And Others

    1985-01-01

    Parents of 135 children with appendicitis and of 212 comparison children were interviewed about their children's diet. Results suggest that a liberal intake of whole-grain breads and cereals may decrease the risk of appendicitis during childhood. (KH)

  14. How Is Childhood Leukemia Diagnosed?

    Science.gov (United States)

    ... the organs. The echoes are converted by a computer into an image on a computer screen. This is a fairly easy test to ... material. For reprint requests, please see our Content Usage Policy . Early Detection, Diagnosis, and Types Can Childhood ...

  15. Childhood Deaths from Physical Abuse.

    Science.gov (United States)

    Kasim, Mohd. Sham; and Others

    1995-01-01

    This paper describes 30 cases of childhood deaths caused by physical abuse in Kuala Lumpur, Malaysia. Data presented include ethnic origins, age, causes of death, identity of perpetrators, and marital situation of parents. (DB)

  16. Treatment Options for Childhood Craniopharyngioma

    Science.gov (United States)

    ... has any of the following: Headaches, including morning headache or headache that goes away after vomiting . Vision changes. Nausea ... Cancer Late Effects of Treatment for Childhood Cancer Adolescents and Young Adults with Cancer Children with Cancer: ...

  17. General Information about Childhood Rhabdomyosarcoma

    Science.gov (United States)

    ... It may be painful. Bulging of the eye. Headache. Trouble urinating or having bowel movements. Blood in ... Cancer Late Effects of Treatment for Childhood Cancer Adolescents and Young Adults with Cancer Children with Cancer: ...

  18. Childhood Brain Stem Glioma Treatment

    Science.gov (United States)

    ... and trouble walking. Vision and hearing problems. Morning headache or headache that goes away after vomiting . Nausea and vomiting. ... Cancer Late Effects of Treatment for Childhood Cancer Adolescents and Young Adults with Cancer Children with Cancer: ...

  19. Treatment Option Overview (Childhood Rhabdomyosarcoma)

    Science.gov (United States)

    ... It may be painful. Bulging of the eye. Headache. Trouble urinating or having bowel movements. Blood in ... Cancer Late Effects of Treatment for Childhood Cancer Adolescents and Young Adults with Cancer Children with Cancer: ...

  20. Treatment Options for Childhood Rhabdomyosarcoma

    Science.gov (United States)

    ... It may be painful. Bulging of the eye. Headache. Trouble urinating or having bowel movements. Blood in ... Cancer Late Effects of Treatment for Childhood Cancer Adolescents and Young Adults with Cancer Children with Cancer: ...

  1. [Childhood of the schizophrenic patient].

    Science.gov (United States)

    Da Fonseca, D

    2009-01-01

    We are able to identify the different risk factors involved in the development of the disorder from a study of the childhood of a schizophrenic patient. More specifically, we will define the perinatal risk factors: season and place of birth, viral exposure during pregnancy and obstetric complications. Developmental factors will also be discussed. Socialisation, language, psychomotor and cognitive development disorders are all developmental difficulties seen during the childhood of the schizophrenic patient. Finally we will finish by discussing a few psychosocial risk factors.

  2. Velocardiofacial Syndrome

    Science.gov (United States)

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

    2009-01-01

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

  3. Fraser syndrome

    Directory of Open Access Journals (Sweden)

    Kalpana Kumari M

    2008-04-01

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

  4. Rowell syndrome

    Directory of Open Access Journals (Sweden)

    Ramesh Y Bhat

    2014-01-01

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

  5. 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.)

  6. Craniovertebral junction stenosis in Lenz-Majewski syndrome.

    Science.gov (United States)

    Mizuguchi, Koichi; Miyazaki, Osamu; Nishimura, Gen; Ishigro, Akira

    2015-09-01

    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.

  7. Multispectral brain morphometry in Tourette syndrome persisting into adulthood.

    OpenAIRE

    Draganski, B.; Martino, D.; Cavanna, A. E.; Hutton, C.; Orth, M; Robertson, M M; Critchley, H. D.; Frackowiak, R 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 adulthood suggest ongoing structural alterations affecting frontostriatal circuits. Using cortical thickness estimation and voxel-based analysis of T1-...

  8. Biochemical abnormalities in Pearson syndrome.

    Science.gov (United States)

    Crippa, Beatrice Letizia; Leon, Eyby; Calhoun, Amy; Lowichik, Amy; Pasquali, Marzia; Longo, Nicola

    2015-03-01

    Pearson marrow-pancreas syndrome is a multisystem mitochondrial disorder characterized by bone marrow failure and pancreatic insufficiency. Children who survive the severe bone marrow dysfunction in childhood develop Kearns-Sayre syndrome later in life. Here we report on four new cases with this condition and define their biochemical abnormalities. Three out of four patients presented with failure to thrive, with most of them having normal development and head size. All patients had evidence of bone marrow involvement that spontaneously improved in three out of four patients. Unique findings in our patients were acute pancreatitis (one out of four), renal Fanconi syndrome (present in all patients, but symptomatic only in one), and an unusual organic aciduria with 3-hydroxyisobutyric aciduria in one patient. Biochemical analysis indicated low levels of plasma citrulline and arginine, despite low-normal ammonia levels. Regression analysis indicated a significant correlation between each intermediate of the urea cycle and the next, except between ornithine and citrulline. This suggested that the reaction catalyzed by ornithine transcarbamylase (that converts ornithine to citrulline) might not be very efficient in patients with Pearson syndrome. In view of low-normal ammonia levels, we hypothesize that ammonia and carbamylphosphate could be diverted from the urea cycle to the synthesis of nucleotides in patients with Pearson syndrome and possibly other mitochondrial disorders.

  9. Angelman syndrome in adulthood.

    Science.gov (United States)

    Larson, Anna M; Shinnick, Julianna E; Shaaya, Elias A; Thiele, Elizabeth A; Thibert, Ronald L

    2015-02-01

    Angelman syndrome (AS) is a neurogenetic disorder. The goal of this study was to investigate the primary health issues affecting adults with AS and to further characterize the natural history and genotype-phenotype correlations. Standardized phone interviews with caregivers for 110 adolescents and adults with AS were conducted. The impact of age, sex, and genotype on specific outcomes in neurology, orthopedics, internal medicine, and psychiatry were investigated. The mean age of individuals with AS was 24 years (range 16-50y). Active seizures were present in 41% of individuals, and 72% had sleep dysfunction. Significant constipation was present in 85%, and 32% were overweight or obese, with obesity disproportionately affecting women. Scoliosis affected 50% with a mean age at diagnosis of 12 years, and 24% of those diagnosed with scoliosis required surgery, an intervention disproportionately affecting men. Sixty-eight percent were able to walk independently, and 13% were able to speak 5 or more words. Self-injurious behavior was exhibited in 52% of individuals. The results of this study indicate that epilepsy severity may assume a bimodal age distribution: seizures are typically most severe in early childhood but may recur in adulthood. While late-adolescent and adult sleep patterns were improved when compared to the degree of sleep dysfunction present during infancy and childhood, the prevalence of poor sleep in adults remained quite high. Primary areas of clinical management identified include the following: seizures, sleep, aspiration risk, GERD, constipation, dental care, vision, obesity, scoliosis, bone density, mobility, communication, behavior, and anxiety.

  10. 低剂量亚砷酸及维甲酸方案对儿童骨髓增生异常综合征p15INK4B基因的影响%Effect of low-dose arsenious acid combined with retinoic acid on p15INK4B gene in childhood myelodysplastic syndromes

    Institute of Scientific and Technical Information of China (English)

    李蔚; 王占影; 韩冰虹; 刘生伟; 程焕臣; 赵雪飞; 赵旭; 程曦顺; 邱林

    2016-01-01

    目的 探讨低剂量亚砷酸及维甲酸双诱导方案对骨髓增生异常综合征(MDS)患儿p15INK44B基因表达的影响及患儿p15INK4B基因甲基化水平的变化.方法 11例MDS患儿接受低剂量亚砷酸及维甲酸双诱导方案治疗,应用实时荧光定量聚合酶链反应(PCR)方法检测治疗前后p15INK4B基因的表达,应用亚硫酸氢钠修饰及实时荧光定量PCR方法检测p15INK4B基因的甲基化水平.结果 11例MDS患儿经过双诱导方案治疗后,9例获益.治疗后10例患儿p15INK4B基因表达水平显著升高,治疗前后p15INK4B基因甲基化水平分别为(1.68±0.58)%、(1.44±0.65)%,二者差异无统计学意义(t=-0.885,P>0.05).结论 低剂量亚砷酸及维甲酸双诱导方案治疗儿童MDS疗效较好,该方案的作用机制可能与p15INK4B基因表达升高有关,但p15INK4B基因表达升高与去甲基化无相关性.%Objective To observe the effect of low-dose arsenious acid combined with retinoic acid on the expression and methylation level of p15INK4B gene in childhood myelodysplastic syndromes (MDS).Methods 11 children with MDS induced by low-dose arsenious acid and retinoic acid were enrolled.The expression and methylation level of p15INK4B gene were detected by real time fluorescence quantitative PCR (RT-PCR).Results There were 9 patients in 11 cases benefited from the bi-induction regimen.The p15INK4B expression was increased in 10 MDS patients after treatment,but there was no significant difference [(1.68± 0.58) % vs (1.44±0.65) %,t =-0.885,P> 0.05)].Conclusions The low-dose arsenious acid combined with retinoic acid has favorable effect for the treatment of childhood MDS.Its mechanism may be related with the increased expression level of p15INK4B,however,methylation level is not associated with the increased expression of p15INK4B.

  11. Clinical and behavioral characteristics in FG syndrome.

    Science.gov (United States)

    Graham, J M; Superneau, D; Rogers, R C; Corning, K; Schwartz, C E; Dykens, E M

    1999-08-27

    FG syndrome is a rare X-linked recessive form of mental retardation, first described by Opitz and Kaveggia in 1974. Based on over 50 reported cases, FG syndrome is associated with agenesis of the corpus callosum, minor facial anomalies (high, broad forehead with frontal cowlick, ocular hypertelorism, down-slanted palpebral fissures, and small cupped auricles), relative macrocephaly, broad thumbs and halluces, and prominent fetal fingertip pads. Affected individuals manifest neonatal hypotonia and severe constipation, which usually resolves during mid-childhood. The hypotonia with joint hyperlaxity evolves into spasticity with joint contractures in later life. Affability, hyperactivity, and excessive talkativeness are noted frequently in patients with FG syndrome. Recently, we described three additional families (six additional patients) with FG syndrome who support the localization of a gene for the FG syndrome in chromosome region Xq12-q21 [Graham JM Jr, Tackels D, Dibbern K, Superneau D, Rodgers C, Corning K, Schwartz CE. 1998. Am J Med Genet 80:145-156.]. Using these same families and one additional sporadic case of FG syndrome, we compared behavioral and personality characteristics of 6 FG boys with other boys with syndromic and nonsyndromic mental retardation: eight with Down syndrome, seven with Prader-Willi syndrome, eight with nonspecific mental retardation, and 13 with Williams syndrome. Using the Vineland Adaptive Behavior Scales, the Reiss Personality Profiles, and the Achenbach Child Behavior Checklist, parents were asked to characterize the behavior and personality of their boys from ages 4 to 10 years. When compared with Williams syndrome, the FG boys had fewer internalizing behaviors and were significantly less anxious and withdrawn but had similar socially oriented, attention-seeking behaviors. On the Reiss Profile, FG boys were also quite similar to Williams syndrome boys. On the Vineland Scales, FG boys demonstrated significant relative strengths

  12. Triple A Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Murat Atmaca

    2014-09-01

    Full Text Available Triple A syndrome is a rarely seen autosomal recessive disease characterized by achalasia, adrenal failure and alacrima. The syndrome is frequently seen in childhood. The appearance of its components are usually ordered as alacrima, achalasia and adrenal failure. The majority of the patients diagnosed in the later stages predominantly present with neurological symptoms. In this study, a 21-year-old male who was referred to our clinic with clinical findings of chronic adrenal failure and was diagnosed WİTH triple A syndrome is presented. This patient had been operated three years ago due to achalasia. The diagnosis and treatment of adrenal failure in this syndrome is the most important determinant and indicator in the prognosis of the disease. Turk Jem 2014; 18: 97-99

  13. 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

  14. 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......, and identification of susceptibility genes through linkage and association studies has been complicated due to inherent difficulties such as no clear mode of inheritance, genetic heterogeneity, and apparently incomplete penetrance. Positional cloning through mapping of disease-related chromosome rearrangements has...

  15. Refeeding syndrome.

    Science.gov (United States)

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

    2009-01-01

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

  16. [Metabolic syndrome].

    Science.gov (United States)

    Mitsuishi, Masanori; Miyashita, Kazutoshi; Itoh, Hiroshi

    2009-02-01

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

  17. Auto-inflammatory syndromes and oral health.

    Science.gov (United States)

    Scully, C; Hodgson, T; Lachmann, H

    2008-11-01

    Auto-inflammatory diseases (periodic syndromes) are rare childhood-onset disorders which are characterized by fluctuating or recurrent episodes of fever and inflammation affecting serosal surfaces, joints, eyes and/or skin without significant autoantibody production or an identifiable underlying infection. They are disorders of innate immunity and the underlying genetic defect has been identified in most of the syndromes. Diagnosis relies on clinical symptoms and evidence of an elevated acute phase response during attacks, supported by finding mutations in the relevant genes. Several syndromes can lead to systemic AA amyloidosis. Aphthous-like oral ulceration has been reported as one manifestation in several of the syndromes, including periodic fever, aphthous-stomatitis, pharyngitis, adenitis (PFAPA) familial Mediterranean fever (FMF), hyperimmunoglobulinaemia D and periodic fever syndrome, tumour necrosis factor receptor associated periodic syndrome and pyogenic sterile arthritis, pyoderma gangrenosum, acne (PAPA). Chronic jaw recurrent osteomyelitis has been recorded in chronic recurrent multifocal osteomyelitis. Advances in the molecular pathogenesis of these syndromes and the regulation of innate immunity have enhanced diagnosis, and rationalized therapies. This article reviews the periodic fever syndromes relevant to oral health and the suggested association of FMF with Behçet's disease.

  18. Turner's syndrome, fibromuscular dysplasia, and stroke.

    Science.gov (United States)

    Lancman, M; Mesropian, H; Serra, P; Granillo, R

    1991-02-01

    We report a 43-year-old woman who presented with a right frontoparietotemporal ischemic stroke. She had been diagnosed with Turner's syndrome during childhood and had a history of chronic estrogen therapy. Cerebral angiography showed lesions characteristics of fibromuscular dysplasia involving the right internal carotid and right vertebral arteries. We are not aware of any previous reports describing an association between fibromuscular dysplasia and Turner's syndrome. Although chronic estrogen therapy cannot be ruled out as a cause of this patient's stroke, we suggest a possible etiologic relation between these two entities.

  19. Sotos syndrome: An interesting disorder with gigantism

    Directory of Open Access Journals (Sweden)

    Nalini A

    2008-01-01

    Full Text Available 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.

  20. Tufted angioma and myofascial pain syndrome.

    Science.gov (United States)

    Silva, Roberto Souto da; Bressan, Aline Lopes; Nascimento, Lívia Barbosa; Kac, Bernard Kawa; Azulay-Abulafia, Luna

    2011-01-01

    Tufted angioma is a rare acquired vascular tumor. It is characterized by painful purplish macules that may progress to plaques containing angiomatous papules. The condition is benign; however, it often affects extensive areas of the skin, leading to functional disability of the affected limb if painful. The present report describes a case of a tufted angioma associated with myofascial pain syndrome in which the predisposing element was the presence of this tumor since childhood. Pain at the site of the lesion affected muscle use and led to the onset of the associated syndrome. Complete relief from symptoms was achieved by blocking the trigger points of the affected limb with anesthesia.

  1. [Autoinflammatory syndrome].

    Science.gov (United States)

    Ida, Hiroaki; Eguchi, Katsumi

    2009-03-01

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

  2. Stiripentol for the treatment of Dravet syndrome

    OpenAIRE

    Chiron C

    2014-01-01

    Catherine Chiron1–31INSERM U1129, Paris, France; 2Paris Descartes University, Paris, France; 3CEA, Gif-sur-Yvette, FranceAbstract: Stiripentol (marketed by Biocodex as Diacomit®) is an anticonvulsant drug, structurally unrelated to any other compound, which has recently been approved as adjunctive therapy with clobazam and valproate for Dravet syndrome in Europe, Canada, and Japan. This rare form of early childhood epilepsy is associated with subsequent cognitive impairment,...

  3. Hemolytic uremic syndrome and Clostridium difficile colitis

    Directory of Open Access Journals (Sweden)

    Maryam Keshtkar-Jahromi

    2012-10-01

    Full Text Available Hemolytic uremic syndrome (HUS can be associated with different infectious etiologies, but the relationship between pseudomembranous colitis and HUS was first described in the 1970s in some childhood patients. There is very limited published literature on Clostridium difficile-associated HUS. We report a case of C. difficile-related HUS in an adult patient and provide a review of the literature.

  4. Hemolytic uremic syndrome and Clostridium difficile colitis

    Science.gov (United States)

    Keshtkar-Jahromi, Maryam; Mohebtash, Mahsa

    2012-01-01

    Hemolytic uremic syndrome (HUS) can be associated with different infectious etiologies, but the relationship between pseudomembranous colitis and HUS was first described in the 1970s in some childhood patients. There is very limited published literature on Clostridium difficile-associated HUS. We report a case of C. difficile-related HUS in an adult patient and provide a review of the literature. PMID:23882375

  5. [Hereditary cerebro-oculo-renal syndromes].

    Science.gov (United States)

    Sessa, Galina; Hjortshøj, Tina Duelund; Egfjord, Martin

    2014-02-17

    Although many congenital diseases present disturbances of the central nervous system, eyes and renal function, only few of these have a defined genetic basis. The first clinical features of cerebro-oculo-renal diseases usually develop in early childhood and deterioration of kidney function and even end-stage kidney disease may occur in a young age. The syndromes should be considered in patients with retarded growth and development, central nervous system abnormalities, impaired vision or blindness and progressive renal failure.

  6. 儿童巨噬细胞活化综合征23例临床分析%Clinical analysis on 23 cases of childhood macrophage activation syndrome

    Institute of Scientific and Technical Information of China (English)

    马慧慧; 钱小青; 俞海国; 张雅媛; 李娟; 郭翼红; 樊志丹

    2012-01-01

    Objective: To analyze the clinical and laboratory characteristics of macrophage activation syndrome (MAS) in children. Methods: Clinical data (the clinical features, early manifestation, laboratory characteristics, treatment, and outcome) of 23 cases of MAS, who came from our hospital, were retrospectively analyzed. Results: The average age of 23 MAS children (including 11 male and 12 female) was 7.1-year-old. Underlying diseases were Kawasaki disease (1 case), systemic lupus erythematosus (2 cases) and systemic type juvenile idiopathic arthritis (20 cases). The first clinical manifestations were persisting high fever (15 cases), jaundice and fulminate hepatitis (7 cases), hemolytic anemia (1 case). All the MAS children manifested the progressive enlargement of both liver and spleen, or (and) lymph nodes associated with blood system involvement, 4 cases with central nervous system dysfunction, 5 cases with easy bleeding, 4 cases with respiratory system dysfunction such as bronchial pneumonia or respiratory failure, 8 cases with digestive system dysfunction, 1 case with cardiac disease, 1 case with renal disease and 1 case with mumps. One to three series of peripheral blood cells and erythrocyte sedimentation rate decreased. While the serum transaminase, lactate dehydrogenase, serum ferritin and triglycerides increased. Other dysfunctions were coagulopathy and phagocytic blood cells in bone marrow. The treatment protocols were set individually. Application of methylprednisolone and intravenous gamma globulin therapy with cyclosporin A given intravenously or orally were very effective. In spite of 2 cases died, others got recovered. Conclusions: MAS is not only seen systemic juvenile idiopathic arthritis, but also seen in other rheumatic and immunological diseases(Kawasaki disease, systemic lupus erythematosus). MAS is a dangerous disease and can cause systemic multiple organ damage. Sometime severe hepatitis and hemolytic anemia is the first symptom instead of

  7. [Epidemiology of childhood cancers].

    Science.gov (United States)

    Clavel, Jacqueline

    2007-05-31

    In industrial countries, 1 child out of 500 develops a cancer before the age of 15 years, and before the age of 6 years for almost half of them. In France, incidence rates were stable over the 15 last years with around 1500 cases each year. A very small fraction of cases is attributable to known risk factors, including heritable cancers or cancers in children with heritable predisposing diseases, cancers induced by high doses of ionizing radiation of medical or accidental origin, by chemotherapeutic or immunosuppressive drugs. Responsibility of Epstein Barr virus in a fraction of Hodgkin's and Burkitt's lymphomas is also established, even though little is still known on the cofactors involved in industrial countries. Other virus could cause leukaemia, as suggested by localized increases in incidence in various conditions of population mixing. Conversely, there is some evidence that early common infections could be protective toward leukaemia risk, probably through their contribution to the maturation of the immune system. Several agents are suspected to induce chemical cancers, particularly pesticides, which are consistently reported in childhood leukaemia and brain tumours. It is more and more likely that genetic factors may modulate risk induced of environmental factors.

  8. Childhood sledding injuries.

    Science.gov (United States)

    Shorter, N A; Mooney, D P; Harmon, B J

    1999-01-01

    Sledding is only rarely thought of as a potentially dangerous childhood activity. However, serious injuries and occasional deaths do occur. A review of patients 18 years old and younger admitted to a pediatric trauma center following a sledding accident from 1991 to 1997 was conducted. By design this study was expected to identify the most seriously injured patients. Twenty-five patients were identified, all but four younger than 13. Seventeen were boys. The mechanisms of injury were: collision with stationary object, 15; sled-sled collision, 1; struck by sled, 2; going off jump, 3; foot caught under sled or on ground, 3; fall off sled being towed by snowmobile, 1. The average pediatric trauma score was 10.5, and the average injury severity score 10.6. There were no deaths. The injuries were: head, 11; long bone/extremity, all lower, 10; abdomen, 5; chest, 1; facial, 2; spinal, 1. Five patients sustained multiple injuries. A surprisingly high number, 5, had pre-existing neurological conditions that could have played a contributory role in the accident. Sledding is predominantly an activity of children, and occasional serious injuries occur. Most are preventable. Obeying the simple caveat that sledding should only be done in clear areas away from stationary objects would eliminate the great majority of serious injuries.

  9. Completed suicide in childhood.

    Science.gov (United States)

    Dervic, Kanita; Brent, David A; Oquendo, Maria A

    2008-06-01

    Suicide in children and young adolescents up to 14 years of age has increased in many countries, warranting research and clinical awareness. International reported suicide rates per 100,000 in this young population vary between 3.1 and 0 (mean rate worldwide, approximately 0.6/100.000; male-female ratio, 2:1). Suicide occurs only in vulnerable children; this vulnerability begins with parental mood disorder and impulsive aggression, and family history of suicide. Childhood affective and disruptive disorders and abuse are the most often reported psychiatric risk factors. Suicide becomes increasingly common after puberty, most probably because of pubertal onset of depression and substance abuse, which substantially aggravate suicide risk. Biologic findings are scarce; however, serotonergic dysfunction is assumed. The most common precipitants are school and family problems and may include actual/anticipated transitions in these environments. Suicides in children and young adolescents up to 14 years of age often follow a brief period of stress. Cognitive immaturity/misjudgment, age-related impulsivity, and availability of suicide methods play an important role. Psychologic autopsy studies that focus on suicides in this age group are needed.

  10. Alternating hemiplegia of childhood.

    Science.gov (United States)

    Kansagra, Sujay; Mikati, Mohamad A; Vigevano, Federico

    2013-01-01

    Alternating hemiplegia of childhood (AHC) is a very rare disease characterized by recurrent attacks of loss of muscular tone resulting in hypomobility of one side of the body. The etiology of the disease due to ATP1A3 gene mutations in the majority of patients. Few familial cases have been described. AHC has an onset in the first few months of life. Hemiplegic episodes are often accompanied by other paroxysmal manifestations, such as lateral eyes and head deviation toward the hemiplegic side and a very peculiar monocular nystagmus. As the attack progresses, hemiplegia can shift to the other side of the body. Sometimes the attack can provoke bilateral paralysis, and these patients may have severe clinical impairment, with difficulty in swallowing and breathing. Hemiplegic attacks may be triggered by different stimuli, like bath in warm water, motor activity, or emotion. The frequency of attacks is high, usually several in a month or in a week. The duration is variable from a few minutes to several hours or even days. Sleep can stop the attack. Movement disorders such as dystonia and abnormal movements are frequent. Cognitive delay of variable degree is a common feature. Epilepsy has been reported in 50% of the cases, but seizure onset is usually during the third or fourth year of life. Many drugs have been used in AHC with very few results. Flunarizine has the most supportive anecdotal evidence regarding efficacy.

  11. Update on childhood brucellosis.

    Science.gov (United States)

    Roushan, Mohammad R H; Amiri, Mohammad J S

    2013-04-01

    In endemic regions of brucellosis, childhood brucellosis includes up to one-third of all cases of human brucellosis. The main source of infection in children is consumption of unpasteurized dairy products and traditional local foods containing dairy products. The older boys are more involved in animal care. Boys are more commonly infected than girls. Common symptoms and signs include fever, arthralgia, sweating, peripheral arthritis and splenomegaly. Peripheral arthritis especially monoarthritis is more common and the most commonly affected joints are hip and knee. All organs may involve during the course of the disease. Isolation of Brucella spp. from the blood, bone marrow or other tissue fluids is the hallmark of diagnosis. Serologic tests are the main tools of diagnosis of brucellosis in endemic regions. Standard agglutination test (SAT) with titers > 1:160 and the 2-mercaptoethanol (2ME) test ≥ 1:80 are suggestive of active infection. Children older than 8 years should be treated with doxycycline for 45 days or 8 weeks plus gentamicin for 7 or 5 days respectively or doxycycline for 45 days and streptomycin for 14 days. Also doxycycline plus rifampin or cotrimoxazole plus rifampin for 45 days may be alternative regimens. Cotrimoxazole plus rifampin for six weeks is the regimen of choice for the treatment of patients younger than 8 years old. Gentamicin for 5 days plus cotrimoxazole for six weeks may be a suitable alternative regimen. The article presented few of the patents associated with Brucellosis.

  12. Asthma in childhood.

    Science.gov (United States)

    de Benedictis, Fernando Maria; Attanasi, Marina

    2016-03-01

    Several topics on childhood asthma were addressed in the Paediatric Clinical Year in Review session at the 2015 European Respiratory Society International Congress. With regard to the relationship between lower respiratory tract infections and asthma, it emerges that is the number of respiratory episodes in the first years of life, but not the particular viral trigger, to be associated with later asthma development. Understanding which characteristics of individual patients are associated with an increased risk for asthma exacerbation is a critical step to implement strategies preventing these seasonal events. Recent data suggest the possibility that exhaled volatile organic compounds may qualify as biomarkers in detecting early signs of asthma. Adding information of exhaled volatile organic compounds and expression of inflammation genes to a clinical tool significantly improves asthma prediction in preschool wheezy children. Personal communication with children and adolescents is likely more important than the tools actually used for monitoring asthma. Systemic corticosteroids do not affect the long-term prognosis in children with first viral-induced wheezing episode and should be used cautiously during acute episodes. Finally, stress and a polymorphism upstream of a specific gene are both associated with reduced bronchodilator response in children with asthma.

  13. Asthma in childhood

    Directory of Open Access Journals (Sweden)

    Fernando Maria de Benedictis

    2016-03-01

    Full Text Available Several topics on childhood asthma were addressed in the Paediatric Clinical Year in Review session at the 2015 European Respiratory Society International Congress. With regard to the relationship between lower respiratory tract infections and asthma, it emerges that is the number of respiratory episodes in the first years of life, but not the particular viral trigger, to be associated with later asthma development. Understanding which characteristics of individual patients are associated with an increased risk for asthma exacerbation is a critical step to implement strategies preventing these seasonal events. Recent data suggest the possibility that exhaled volatile organic compounds may qualify as biomarkers in detecting early signs of asthma. Adding information of exhaled volatile organic compounds and expression of inflammation genes to a clinical tool significantly improves asthma prediction in preschool wheezy children. Personal communication with children and adolescents is likely more important than the tools actually used for monitoring asthma. Systemic corticosteroids do not affect the long-term prognosis in children with first viral-induced wheezing episode and should be used cautiously during acute episodes. Finally, stress and a polymorphism upstream of a specific gene are both associated with reduced bronchodilator response in children with asthma.

  14. SCN1A-related Dravet syndrome : Vaccinations and seizure precipitants in disease course and diagnosis

    OpenAIRE

    2015-01-01

    Febrile seizures are well known adverse events following childhood vaccinations. If a seizure following vaccination is the first of an evolving epilepsy syndrome, the vaccination might be misinterpreted as the primary cause of the epilepsy. Dravet syndrome (formerly known as severe myoclonic epilepsy of infancy, or SMEI) is a rare epilepsy syndrome with seizure onset in the first year of life often triggered by fever or vaccinations, in a previously healthy child. In the second year or later,...

  15. Childhood vasculitis hospitalizations in Spain, 1997-2011.

    Science.gov (United States)

    Villaverde-Hueso, A; Alonso, V; Morales-Piga, A; Hens-Pérez, M; Abaitua, I; Posada-de-la-Paz, M

    2014-05-01

    The aim of this study is to describe the childhood vasculitis hospital burden in Spain (1997-2011), considering type of disease, hospitalization rates and time trends. Data were obtained from the National Discharges Basic Minimum Data Set (National Patient Data Base). Inpatient events of children younger than 15 years of age were analyzed. Principal diagnosis of vasculitis were selected according Ninth Revision of the International Classification of Diseases: Takayasu arteritis, Polyarteritis nodosa, Kawasaki disease, Wegener`s granulomatosis, Churg-Strauss syndrome, and Henoch-Schönlein purpura. A total of 14518 children hospitalizations related to vasculitis were identified in Spain from 1997 to 2011. The average hospitalization rate for children was 13.33±1.71 per 100,000. Henoch-Schönlein purpura and Kawasaki disease were the most common type of vasculitis, hospitalization rates were 11.00 and 3.97 per 100,000 children, respectively. Other vasculitis hospitalizations are much rare in childhood. Average length of stay was 6.04 days and estimated cost per inpatient hospital care was 2,847€. Hospital case fatality rate was 0.05% for overall vasculitis. In conclusion, epidemiological data of childhood vasculitis are useful both to health decision-making and to identify research priorities.

  16. Psychosocial outcome and psychiatric comorbidity in older adolescents with Tourette syndrome: controlled study

    DEFF Research Database (Denmark)

    Gorman, Daniel A; Thompson, Nancy; Plessen, Kerstin J;

    2010-01-01

    BACKGROUND: Children with Tourette syndrome generally experience improvement of tics by age 18 years, but psychosocial and comorbidity outcomes at this age are unclear. AIMS: To compare psychosocial outcomes and lifetime comorbidity rates in older adolescents with Tourette syndrome and controls. We...... hypothesised a priori that individuals with Tourette syndrome would have lower Children's Global Assessment Scale (CGAS) scores. METHOD: A total of 65 individuals with Tourette syndrome, identified in childhood, and 65 matched community controls without tic or obsessive-compulsive disorder (OCD) symptoms were......, learning disorder and conduct disorder (Ptic severity. CONCLUSIONS: Clinically ascertained children with Tourette syndrome typically have impaired psychosocial functioning...

  17. Behavioral Phenotype in the 9q Subtelomeric Deletion Syndrome

    NARCIS (Netherlands)

    Verhoeven, W.M.A.; Kleefstra, T.; Egger, J.I.M.

    2010-01-01

    The 9q Subtelomeric Deletion Syndrome (9qSTDS) is clinically characterized by mental retardation, childhood hypotonia, and facial dysmorphisms. Haploinsufficiency of the EHMT1 gene has been demonstrated to be responsible for its core phenotype. In a significant number of patients behavioral abnormal

  18. Physical health problems in adults with Prader-Willi syndrome

    NARCIS (Netherlands)

    Sinnema, M.; Maaskant, M.A.; Schrojenstein Lantman-de Valk, H.M.J. van; Nieuwpoort, I.C. van; Drent, M.L.; Curfs, L.M.G; Schrander-Stumpel, C.T.R.M.

    2011-01-01

    Prader-Willi syndrome (PWS) is a genetic disorder which is characterized by severe hypotonia and feeding problems in early infancy. In later childhood and adolescence, this is followed by hyperphagia and extreme obesity if the diet is not strictly controlled. Data on physical health problems in adul

  19. 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.…

  20. A case of Kartagener syndrome with rhinolalia clausa.

    Science.gov (United States)

    Raoufi, Mohammed; Sator, Hicham; Lahma, Jawad; El Ayoubi, Ali; Nitassi, Sophia; Oujilal, Abdelilah; Benbouzid, Mohammed Anas; Essakalli, Leila; Elouazzani, Hanane; Rhorfi, Ismail Abderrahmane; Abid, Ahmed

    2016-01-01

    Kartagener syndrome is an autosomal recessive genetic ciliary disorder comprising of a classic triad of sinusitis, situs inversus and bronchiectasis. It's the one of primary ciliary dyskinesia disorders with manifestations present from childhood. Most patients of PCD have situs inversus. We present a case of 18 year-old women with recurrent lower and upper respiratory tracts infections, and rhinolalia clausa.

  1. Recent Coverage of Early Childhood Education Approaches in Open Access Early Childhood Journals

    Science.gov (United States)

    Keskin, Burhanettin

    2016-01-01

    A content analysis of the coverage of the major approaches to early childhood education in the early childhood research journals, published between 2010 and 2014, that are early childhood research oriented and have free online access were investigated. Among 21 journals in early childhood education, two journals were selected for the content…

  2. Epidemiology of childhood food allergy.

    Science.gov (United States)

    Dyer, Ashley A; Gupta, Ruchi

    2013-06-01

    Food allergy is a public health problem that affects nearly 6 million children in the United States. The extent to which children, families, and communities live with food allergies varies as much as the range of clinical symptoms associated with the disease itself. Food allergy is defined as the reproducible adverse event that elicits a pathologic immunoglobulin E (IgE)-mediated or non-IgE-mediated reaction. Once an allergic child ingests a specific food allergen, the reaction can result in clinical symptoms ranging from mild hives to life-threatening anaphylaxis.Not surprisingly, food allergies have been shown to limit social interactions and impair children's quality of life due to the ubiquity of food where children live, learn, and play. To ensure the safety of our children, the development of sound policy, clinical practice, and health programs must be informed by current research characterizing childhood food allergy at the population level. To set the stage for understanding the current evidence base, this article reviews: 1) epidemiology of childhood food allergy; 2) severity of symptoms; 3) geographic distribution of childhood food allergy; 4) tolerance; 5) economic impact of childhood food allergy; and 6) future directions in childhood food allergy epidemiological research.

  3. Childhood Central Nervous System Embryonal Tumors Treatment

    Science.gov (United States)

    ... Cord Tumors Treatment Childhood Astrocytomas Treatment Childhood Brain Stem Glioma ... Central nervous system (CNS) embryonal tumors may begin in embryonic (fetal) cells that remain in the brain after birth. ...

  4. Maternal postpartum distress and childhood overweight

    DEFF Research Database (Denmark)

    Ajslev, Teresa A; Andersen, Camilla S; Ingstrup, Katja G;

    2010-01-01

    We investigated associations between maternal postpartum distress covering anxiety, depression and stress and childhood overweight.......We investigated associations between maternal postpartum distress covering anxiety, depression and stress and childhood overweight....

  5. 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)

    2017-03-27

    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

  6. [Drowning accidents in childhood].

    Science.gov (United States)

    Krandick, G; Mantel, K

    1990-09-30

    This is a report on five boys aged between 1 and 5 years who, after prolonged submersion in cold water, were treated at our department. On being taken out of the water, all the patients were clinically dead. After 1- to 3-hour successful cardiopulmonary resuscitation, with a rectal temperature of about 27 degrees C, they were rewarmed at a rate of 1 degree/hour. Two patients died within a few hours after the accident. One patient survived with an apallic syndrome, 2 children survived with no sequelae. In the event of a water-related accident associated with hypothermia, we consider suitable resuscitation to have preference over rewarming measures. The most important treatment guidelines and prognostic factors are discussed.

  7. Probiotic Use in Childhood

    Directory of Open Access Journals (Sweden)

    Merve Usta

    2014-08-01

    Full Text Available Probiotics are live microorganisms that produce a benefit to host by improving microbial balance in the gut, when provided in adequate amounts from food and supplements. Probiotics, taken with foods or food supplements are bacteria or yeasts. They act by reducing the number of pathogens and harmful bacteria, by changing microbial metabolism and by improving the immune system. They are in capsule, tablet, cachet or powdered form. In randomised controlled trials with probiotics, the prevention of acute infectious diarrhea in healthy infants and children had shown moderate benefits. The effect of probiotics in acute viral diarrhea is well studied. More research is needed to determine the effect of probiotics in antibiotic associated diarrhea, irritable bowel syndrome, ulcerative colitis, Crohn’s disease, helicobacter pylori infection, constipation and extraintestinal infections. There are positive results with probiotics in atopic diseases and preventing necrotising enterocolitis in premature infants. Studies continue for the effectiveness of the probiotics in various clinical conditions in children.

  8. Brucellosis in childhood.

    Science.gov (United States)

    Street, L; Grant, W W; Alva, J D

    1975-03-01

    Brucellosis has always been an unusual disease in children and, concomitant with the control of the disease in domestic animals, reports have become sparse. The pediatrician, therefore, may not be aware of the protean clinical manifestations of childhood brucellosis. In 1973, nine cases occurred during a three-month period in El Paso, Texas. All cases were marked by spiking fevers and lethargy of four days to four weeks in duration. Tender hepatomegaly or splenomegaly was striking in seven patients. Other characteristics included epistaxis, arthralgia, myalgia, and weight loss. Leukopenia and leukemoid reaction were found in five patients. All of the patients tested had elevated liver enzymes. Febrile agglutinins were invaluable in screening for an early clue to diagnosis. When Brucella abortus antigen agglutinated serum from patients with a positive screen in dilutions greater than 1:320, a presumptive diagnosis of brucellosis was made. Brucella was isolated from the blood or bone marrow in seven patients and the time of incubation proved crucial for successful recovery. Bacterial blood cultures are usually discarded at ten days of age, as were cultures from the only two patients from whom the organism was not recovered. All of the cultures incubated for 12 to 15 days grew B. melitensis, an unusual causative species in the United States. However, several patients admitted eating cheese from the State of Chihuahua, Mexico, made from unpasteurized goat's milk, the presumed source of the infection. Within one to three days, all patients responded dramatically to antibiotics; tetracycline was given orally for 21 days and streptomycin intramuscularly for 14 days. Pediatricians caring for patients in areas where consumption of unpasteurized milk products is likely would do well to consider brucellosis in a child with obscure fever or toxic hepatosplenomegaly.

  9. Rett Syndrome -- an update.

    Science.gov (United States)

    Jellinger, K A

    2003-06-01

    Rett syndrome is a progressive, usually sporadic and rarely familial, disabling neurodevelopmental disorder with onset in early childhood presenting clinically with mental retardation, behavioral changes, late movement disturbances, loss of speech and hand skills, ataxia, apraxia, irregular breathing with hyperventilation while awake, and frequent seizures. It occurs almost exclusively in females with an estimated prevalence of 1 in 10-22000 births and is considered a manifestation of defective brain maturation caused by dominant mutation of the MeCP2 gene encoding the transcriptional repressor methyl-CpG-binding protein 2 related to the Xq28 locus. Although many different mutations of this protein are being studied in humans and in mice, the molecular pathogenesis of this disorder remains unclear. Electroencephalography is abnormal in the final stages of the syndrome. Neuroimaging showing brain atrophy may be required for differential diagnosis that includes neurodegenerative and metabolic disorders. Neuropathology shows decreased brain growth and reduced size of individual neurons, with thinned dendrites in some cortical layers and abnormalities in substantia nigra (decreased neuromelanin content), suggestive of deficient synaptogenic development, probably starting before birth. Neurometabolic changes include reduced levels of dopamine, serotonin, noradrenalin, choline acetyltransferase (ChAT), nerve growth factors, endorphines, glutamate, and other amino acids and their receptor levels in brain. Current treatment includes symptomatic, anticonvulsive and physiotherapy.

  10. Wellens' syndrome

    Directory of Open Access Journals (Sweden)

    Franco Lai

    2007-12-01

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

  11. [Autoinflammatory syndromes].

    Science.gov (United States)

    Lamprecht, P; Gross, W L

    2009-06-01

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

  12. Health lifestyles in early childhood.

    Science.gov (United States)

    Mollborn, Stefanie; James-Hawkins, Laurie; Lawrence, Elizabeth; Fomby, Paula

    2014-12-01

    This study integrates two important developments, the concept of health lifestyles (which has focused on adults and adolescents) and the increased attention to early childhood. We introduce the concept of children's health lifestyles, identifying differences from adult health lifestyles and articulating intergenerational transmission and socialization processes shaping children's health lifestyles. Using the nationally representative Early Childhood Longitudinal Study-Birth Cohort (2001-2007; N ≈ 6,150), latent class analyses identify predominant health lifestyles among U.S. preschoolers. Five distinct empirical patterns representing health lifestyles emerge, two capturing low and medium levels of overall risk across domains and three capturing domain-specific risks. Social background predicts children's health lifestyles, but lower household resources often explain these relationships. Across kindergarten measures of cognition, behavior, and health, preschool health lifestyles predict children's development even after controlling for social disadvantage and concurrent household resources. Further research on health lifestyles throughout childhood is warranted.

  13. 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

  14. 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.

  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. Gorlin syndrome

    Directory of Open Access Journals (Sweden)

    Basanti Devi

    2013-01-01

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

  17. Gorlin syndrome.

    Science.gov (United States)

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

    2013-05-01

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

  18. FSH, LH, inhibin B and estradiol levels in Turner syndrome depend on age and karyotype: longitudinal study of 70 Turner girls with or without spontaneous puberty

    DEFF Research Database (Denmark)

    Hagen, Casper P; Main, Katharina M; Kjaergaard, Susanne;

    2010-01-01

    Ovarian function in Turner syndrome (TS) patients depends on the specific karyotype. This retrospective clinical study evaluates the pituitary-gonadal axis during infancy, childhood and adolescence in TS patients according to karyotype and ovarian function....

  19. 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 ...

  20. Facts about Down Syndrome

    Science.gov (United States)

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