Amicrobial pustulosis associated with autoimmune disease (APAD) is a rare clinical condition, characterized by relapsing pustular eruption, affecting mainly the skin folds. Almost all previously described cases were young women with varying underlying autoimmune diseases. We report a 36-year-old woman with the interesting triad of APAD, Sjögren syndrome and IgA ...

Systemic lupus erythematosus (SLE) has been described as a cause of thrombotic microangiopathy, especially thrombotic thrombocytopenic purpura (TTP). Haemolytic-uraemic syndrome (HUS) is less frequent in SLE. We report a case of such an association during an episode of severe lupus nephritis in a young woman, who was successfully treated with ...

Objective: To report a rare case of brucellosis with myelodysplastic syndrome (MDS). Clinical Presentation and Intervention: A 70-year-old woman presented with pancytopenia and fever of unknown origin (FUO). The initial diagnosis was brucellosis; the woman was treated with doxycycline and rifampin against Brucella melitensis but was later diagnosed as suffering ...

Severe fever with thrombocytopenia syndrome bunyavirus is a newly discovered bunyavirus with high pathogenicity to human. The transmission model has been largely uncharacterized. Investigation on a cluster of severe fever with thrombocytopenia syndrome cases provided evidence of person-to-person transmission through blood contact to the index patient with high serum virus ...

Long QT syndrome is associated with lethal tachyarrhythmia that can lead to syncope, seizure, and sudden death. Congenital long QT syndrome is a genetic disorder, characterized by delayed cardiac repolarization and prolongation of the QT interval on the electrocardiogram (ECG). Type 2 congenital long QT is linked to mutations in ...

A 24-year-old previously healthy girl presented with persistent fever, headache, and jaundice. Rapid-test anti-dengue virus IgM antibody was positive but anti-dengue IgG was nonreactive, which is suggestive of primary dengue infection. There was clinical deterioration during empiric antibiotic and symptomatic therapy. Bone marrow examination demonstrated the presence of hemophagocytosis. Diagnosis ...

Tumor necrosis factor receptor-associated periodic fever syndrome (TRAPS) is a rare systemic autoinflammatory disorder characterized by recurrent episodes of fever and localized inflammation of different organs. The disease is dominantly inherited, with an onset usually in early childhood. We describe a case of a 58-year-old patient with TRAPS caused by ...

This paper reports a case of dengue in a six-year-old female child who suddenly developed excruciating headaches, fever, myalgia and paresis. Laboratory examinations included blood count, platelet count, biochemical tests (BUN, creatinine, aminotransferases, and total bilirubin and bilirubin fractions) and specific IgM titers (enzyme-immunoassay with recombinant tetravalent dengue). After ten ...

Cogan syndrome is a syndrome of non-syphilitic interstitial keratitis associated with vestibuloauditory deficits. We report a 10 year-old male child who presented with fever, acute polyarthritis, and unilateral red eye and was diagnosed as acute rheumatic fever. Subsequently unilateral hearing loss was detected and the child was diagnosed to have ...

ARTICLES PUBLISHED IN THIS CLINICAL IMMUNOLOGY REVIEW SERIES allergy in childhood, allergy diagnosis by use of the clinical immunology laboratory, anaphylaxis, angioedema, management of pulmonary diseases in primary antibody deficiency, periodic fever syndrome, recurrent infections in childhood, recurrent oro-genital ulceration, recurrent superficial abcesses, SLE and Sjögren's syndrome, urticaria, vasculitis/CTD SUMMARY: ...

We describe an unusual presentation of Q fever with associated haemophagocytic syndrome, confirmed by bone marrow aspirate, Q fever polymerase chain reaction (PCR) and serological testing. Clinical recovery was observed after the commencement of doxycycline with normalisation of the patient's full blood count and serum biochemistry. Serial monitoring of the ...

OBJECTIVE: The first seizure in Dravet syndrome is often considered a febrile seizure (FS), but shortly thereafter, both FSs and seizures without fever occur, leading to diagnosis. Fever remains a factor that easily precipitates seizures. We studied the perception and management of fever of parents of children with Dravet syndrome. ...

We present a case of primary antiphospholipid syndrome (APS), initially diagnosed as acute rheumatic fever, resulting in severe mitral valve incompetence. This case raises questions of the specificity of the Jones diagnostic criteria for rheumatic fever in a population where it is infrequently encountered. There are similarities in clinical, pathological ...

Body mass index is predictive of sonographic endometrial stripe thickness, which in turn is predictive of endometrial hyperplasia in patients with polycystic ovary syndrome. For every 1-mm increase in endometrial stripe, the odds ratio of hyperplasia increased by 1.48 (95% confidence interval, 1.04-2.10).

The spectrum of dengue infection varies from dengue fever to more severe forms such as dengue hemorrhagic fever (DHF) and dengue shock syndrome (DSS). In DHF bleeding may be overt (external) or internal. At time bleeding can occur at unusual sites. We report one such case of DHF in which ...

Dengue fever (DF) and dengue haemorrhagic fever (DHF) are important mosquito-borne viral diseases of humans and recognized as important emerging infectious diseases in the tropics and subtropics. Compared to nine reporting countries in the 1950s, today the geographic distribution includes more than 100 countries worldwide. Dengue viral infections are known ...

Translated from the Spanish and reprinted with permission from the Revista Cubana de Higiene y Epidemiología, Vol 48 No 18, Jan-Apr 2010. Original available at: http://bvs.sld.cu/revistas/hie/vol_48_1_10/hie02110.htm ABSTRACT OBJECTIVE Determine point prevalence of febrile syndromes and compare with prevalence reported by habitual clinical and seroepidemiologic dengue surveillance system in Havana City. ...

OBJECTIVE: To improve the understanding in pathology and provide steady proof for diagnosis and treatment of tethered cord syndrome (TCS), the ultrastructure of filum terminale (FT) with TCS will be researched, respectively. METHODS: Thirty-one fila were sectioned and divided into two groups according to diameter. Twenty-two fila thicker than 2 mm ...

Clinical and molecular characterization of the Brugada syndrome has progressed rapidly since its initial description. The role of hormonal changes during pregnancy and postpartum period on the pathogenesis of Brugada syndrome has not been studied. Herein, we describe a case of revelation of Brugada syndrome during pregnancy in a young ...

Brugada Syndrome and Ketamine Overdose.  A 31-year-old man was referred for ketamine overdose. He presented initially with transient major Brugada ECG pattern. Complete investigation led to the diagnosis of slowly resolvent toxic myocarditis. Brugada-like ECG was suspected to be caused by the ketamine intoxication in this case. (J Cardiovasc Electrophysiol, ...

Q Fever is a zoonosis caused by Coxiella burnetii. Ocular manifestations are rare in this infection. We describe the case of a man complaining of an intense retro-orbital headache, fever, arthralgia, and bilateral loss of vision, who showed an anterior uveitis accompanied by exudative bilateral inferior retinal detachment and optic ...

PURPOSE OF REVIEW: Sudden cardiac death (SCD) is a major public health burden, and evidence from family history and from molecular studies on inherited arrhythmogenic syndromes indicates that genetic factors are important contributors to the risk of SCD. This review discusses recent advances on the genetic predisposition to SCD, with ...

The difference between maximal and minimal QT interval and corrected QT interval defined as QT dispersion and corrected QT dispersion may represent arrhythmogenic risks. This study sought to evaluate QT dispersion and corrected QT dispersion in childhood obstructive sleep apnoea syndrome. Forty-four children (34 male) with obstructive sleep apnoea syndrome, ...

Brugada syndrome is an arrhythmogenic disease characterized by a pattern of ST segment elevation in the right precordial leads on an electrocardiogram with an increased risk of sudden cardiac death. It is primarily reported in adults with limited data about the prevalence, prognosis, and long-term management in children. We describe ...

We report the case of a patient with Brugada syndrome and a history of palpitations who presented with an episode of syncope and developed supraventricular tachycardia in the electrophysiological study. The patient was treated with radiofrequency ablation for the supraventricular tachycardia and an implantable cardioverter defibrillator for the Brugada syndrome. ...

Successful Use of Quinine in the Treatment of Electrical Storm. A 10-year-old girl developed life-threatening recurrent polymorphic ventricular tachycardia following surgical closure of a simple secundum atrial septal defect. Post hoc analysis of a Holter recording suggested Brugada syndrome. After managing the acute phase, a dual chamber defibrillator was implanted. ...

There have been only a few reports concerning the long-term results of a surgical procedure using a large artificial patch for patients with Williams syndrome. Twelve years have passed since a patient with William's syndrome underwent a surgery with a patch angioplasty for the diffuse supravalvular aortic stenosis and deformities ...

Since the sentinel discovery of long QT syndrome as a channelopathy in 1995, many significant strides have been made related to exposing the pathogenic mechanisms underlying sudden cardiac death. However, elucidating the most influential genetic and environmental determinants that underlie the variable penetrance and expressivity of the primary syndrome-associated mutation ...

Early repolarization (ER), consisting of a J-point elevation, notching or slurring of the terminal portion of the R wave (J wave), and tall/symmetric T wave, is a common finding on the 12-lead electrocardiogram. For decades, it has been considered as benign, barring sporadic case reports and basic electrophysiology research that ...

The short and long QT syndromes are inherited diseases associated with an increased risk for life-threatening arrhythmias. The first case of long QT syndrome (LQTS) was reported more than 150 years ago, and the study of this disease led to crucial advancement of our understanding of channelopathies and associated ventricular ...

Prune belly syndrome has been identified as a clinical triad of abdominal muscle deficiency, bilateral cryptorchidism, and urologic abnormalities. We present the case of a discordant monozygotic twin with prune belly syndrome and voiding dysfunction that was relieved by long-term urinary catheterization by way of the urachus. To the best ...

Pharmacological testing has several indications in the diagnosis of arrhythmia. It is used for the diagnosis of bradycardia-related syncope either during non invasive tests as adenosine triphosphate (ATP) for the diagnosis of vasovagal syncope, but also for the diagnosis of sick sinus syndrome or isoproterenol infusion during the head up ...

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 ...

Brugada syndrome is a condition associated with a characteristic ECG and sudden arrhythmic death. Due to this risk of sudden death, patients with Brugada syndrome are generally not considered fit to fly. In recent years we have gained new insight into this condition and Brugada syndrome patients can now be ...

The last ten years have seen a growing interest in clinical scenarios, where a short QT interval may play a role, especially because of an increased risk of sudden cardiac death in some situations. One such entity is Short QT Syndrome, which has emerged as a rare, but very malignant ...

This Point/Counterpoint presents a scholarly debate of the mechanisms underlying the electrocardiographic and arrhythmic manifestations of Brugada syndrome (BrS), exploring in detail the available evidence in support of the repolarization vs. depolarization hypothesis.

Long-QT syndromes are heritable diseases associated with prolongation of the QT interval on an electrocardiogram and a high risk of sudden cardiac death due to ventricular tachyarrhythmia. In long-QT syndrome type 1, mutations occur in the KCNQ1 gene, which encodes the repolarizing potassium channel mediating the delayed rectifier I(Ks) current. ...

We investigate the extent to which the electrocardiographic (ECG) properties of intact Scn5a+/- mice reproduce the corresponding clinical Brugada syndrome phenotype and use this model to investigate the role of conduction and repolarization abnormalities in the arrhythmogenic mechanism. The ECGs were obtained from anesthetized wild-type and Scn5a+/- mice, before and ...

We report a case of a mesojugular shunt for Budd-Chiari syndrome (BCS) with long-term follow-up. A 32-year-old woman presented with late stage BCS. She was treated with a mesojugular shunt to relieve her portal hypertension. In a 17-year follow-up, she had a pregnancy, a postpartum period, and was diagnosed with ...

BACKGROUND: Droperidol is a highly potent butyrophenone used for the therapy of postoperative nausea and vomiting. Its cardiac safety in cardiovascular-healthy patients and those with long QT (LQT) syndrome is a matter of debate. In this study, we investigated whether droperidol has subtype-specific effects in cellular and computational models of ...

Andersen-Tawil syndrome is an uncommon inherited autosomal disorder characterized by a prolonged QT interval, periodic paralysis, and dysmorphic features. The deleterious effects of cardioplegia on periodic paralysis and cardiac arrhythmia are unknown, and no studies have reported the performance of cardiac surgery in patients with Andersen-Tawil syndrome. We present a ...

Brugada syndrome is an inherited autosomal dominant-type disease characterized by ST-segment abnormalities and increased fatal ventricular tachyarrhythmias. We hereby present a 57-years-old patient with no symptoms or history of cardiovascular disease, diagnosed with febrile respiratory infection (39℃). Electrocardiographic (ECG) findings were typical of Brugada-like type I syndrome that gradually turned ...

Knowledge of sudden cardiac death in young athletes is imperative for all physicians and allied health professionals. The complete differential diagnosis of a young patient with sudden cardiac arrest will result in proper work-up and treatment. In this article, we review several etiologies of sudden cardiac death, including hypertrophic cardiomyopathy, ...

Cardiorenal syndromes are disorders of the heart and kidneys whereby acute or long-term dysfunction in one organ may induce acute or long-term dysfunction of the other. The management of cardiovascular diseases and risk factors may influence, in a beneficial or harmful way, kidney function and progression of kidney injury. In ...

Syncope is a common and difficult differential diagnosis for epilepsy. One possible cause for a cardiac syncope is a long QT syndrome (LQTS). LQTS with torsade de pointes tachycardia can lead to lethal ventricular fibrillation and cardiac arrest. Patients with LQTS when first diagnosed as suffering from epileptic fits often ...

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 members of patients with a known arrhythmogenic syndrome, in 44 large European centres. The principal ...

Brugada syndrome is often accompanied by atrial tachyarrhythmia, such as atrial fibrillation (AF). The aim of this study was to examine atrial vulnerability in patients with Brugada syndrome. Two groups of patients were compared: 18 patients with Brugada syndrome (Brugada syndrome group) and 11 age-matched patients with neither organic heart ...

Sudden cardiac death occurs in a minority of patients in the absence of structural or functional abnormalities. In this category, pure electrical heart diseases are responsible for a large number of these unexpected deaths. These conditions include the long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, short QT syndrome ...

The recurrence of left ventricular apical ballooning (LVAB) or tako-tsubo syndrome seems to be rare. Little data exists regarding the recurrence of the disease, especially over the long-term follow-up. We present a case of relapse of LVAB after ten years.

Brugada syndrome is an inherited cardiac disorder associated with a specific electrocardiographic pattern, involving ST segment elevation in leads V1 to V3. When not spontaneously terminated, it can lead to ventricular fibrillation and sudden death. We present a case report of a young male whose brother suffered a sudden cardiac ...