Brugada syndrome is a clinical-electrocardiographic entity predisposing to malignant ventricular arrhythmias. The typical arrhythmia is polymorphic ventricular tachycardia, which can potentially degenerate to ventricular fibrillation. Monomorphic ventricular tachycardia is uncommon. Our group is reporting the case of a 39-year-old man with known Brugada syndrome who developed ventricular flutter while febrile. ...

We report a case of a young man with paroxysmal atrial fibrillation, in whom a characteristic coved-type Brugada pattern developed during catheter ablation performed under sedation with propofol. After immediate discontinuation of the propofol infusion, coved-type ST-segment elevation gradually resolved and no ventricular arrhythmias occurred. An ajmaline challenge failed to ...

BACKGROUND: The prognosis of immediate survivors of cardiac arrest remains poor, as the majority of these patients develops an inflammatory disorder known as the post-cardiac arrest syndrome (PCAS). Recently, the endothelial glycocalyx has been shown to be a key modulator of vascular permeability and inflammation, but its role in PCAS ...

Brugada syndrome is a disorder characterized by sudden death or potentially malignant ventricular tachyarrhythmias associated in the most typical cases with an electrocardiographic (ECG) pattern combining a coved type ST elevation (≥0, 2 mV), a negative T wave and a "pseudo" right bundle branch block (RBBB) morphology in two or ...

The hypereosinophilic syndrome (HES) is a subcategory of idiopathic eosinophilia which is characterized by marked unexplained eosinophilia and evidence of tissue eosinophilia which leads to eosinophil-mediated organ damage. Cardiac and thromboembolic complications of HES are the common causes of mortality and morbidity. Here, we report a 54-year-old woman with HES ...

Primary ovarian carcinoid is a very rare disease. Carcinoid heart disease occurs in about one-third of patients with carcinoid syndrome. Cardiac involvement may be a cause of death in this syndrome. PRESENTATION OF CASE: We presents the unfavourable outcome of a 78-year-old woman admitted to the hospital complaining severe dyspnea ...

Suicide is difficult to ascertain in elderly patients, and dementia might represent a risk factor, though predictors of suicide in dementia are still unknown. We report the case of a patient recently diagnosed as having a behavioral variant of frontotemporal lobar degeneration (FTLD), apathetic syndrome, who committed suicide by hanging. ...

BACKGROUND: Steroid-dependent, steroid-resistant or frequently relapsing nephrotic syndrome carries a poor prognosis, including progression to renal failure. There are a number of studies confirming the efficacy of FK506 in steroid-resistant or steroid-dependent nephrotic syndrome. Although the use of this medication is becoming more common, we know very little about the ...

We report a case of "Apical Ballooning Syndrome" following attempted suicidal hanging. Our patient developed retrosternal chest pain and ischemic changes on electrocardiography (ECG), a day after the suicidal attempt. She underwent an angiogram considering the possibility of acute coronary syndrome. However, her coronary arteries were normal; the left ventricle ...

Tying-up syndrome, also known as recurrent exertional rhabdomyolysis in Thoroughbreds, is a common muscle disorder for racehorses. In this study, we performed a multipoint linkage analysis using LOKI based on the Bayesian Markov chain Monte Carlo method using 5 half-sib families (51 affected and 277 nonaffected horses in total), and ...

The purpose of this study was to use factor analysis to analyze 90 clinical characteristics of a cohort of 231 patients with primary Sjogren syndrome (pSS). The records of all patients seen at the University Health Network Sjogren Syndrome Clinic from October 1992 to July 2006 were reviewed and documented. ...

Superior semicircular canal dehiscence syndrome (SCDS) is a clinical disorder that is characterized by vertigo and oscillopsia induced by loud sounds. Transient evoked otoacoustic emissions (TEOAEs) allow to noninvasively check the integrity of the cochlea. The present study aimed at identifying cochlear stress as the result of micro alterations of ...

Excessive cell proliferation and genetic changes such as loss of an allele (loss of heterozygosity (LOH)) or amplifications or deletions of parts of chromosomes (copy number variations (CNV)) are common findings in cancers. It is unknown whether these changes are also present in patients with overgrowth syndromes, although the presence ...

Sepsis has been defined as the systemic response to infection in critically ill patients, with severe sepsis and septic shock representing increasingly severe stages of the same disease. Based on the non-invasive cardiovascular spectrum analysis, this paper presents a pilot study on the potential use of the nonlinear support vector ...

There is no consensus regarding the definition of cardiac syndrome X (CSX). We systematically reviewed recent literature using a standardized search strategy. We included 57 articles. A total of 47 studies mentioned a male/female distribution. A meta-analysis yielded a pooled proportion of females of 0.56 (n = 1,934 patients, with ...

Klinefelter syndrome is a sex chromosomal abnormality (47, XXY karyotype), occurring approximately in 1 in 1000 male live births. In the present study proteomic analysis was performed in twelve 2nd trimester amniotic fluid samples, eight coming from pregnancies with normal males and four with Klinefelter syndrome foetuses, as shown by ...

Speech production in young people with Down's syndrome has been found to be variable and inconsistent. Errors tend to be more in the production of sounds that typically develop later, for example, fricatives and affricates, rather than stops and nasals. It has been suggested that inconsistency in production is a ...

We report a case of hepatoblastoma that developed in a child with Sotos syndrome, an overgrowth syndrome with an increased risk of neoplasms. Genome-wide analysis of copy number alterations showed a gain of chromosome 2, uniparental disomy of 18q, and microdeletion of 5q35.

The development of the nonthyroid disease syndrome in acute endotoxicosis involves mechanisms related to polarization of the immune response by the Th1 type. Thyroid status of rats with pronounced and weak polarization of the immune response was evaluated. Morphofunctional changes in the thyroid gland in animals with the central and ...

Objective: The current epidemic of obesity has made the diagnosis of Cushing's syndrome more compelling and requires a practical diagnostic test with high specificity and sensitivity to detect true Cushing's syndrome while avoiding false positive results. Here we report a meta-analysis of latenight salivary cortisol for the diagnosis of Cushing's ...

We report an investigation of the experience of being an XY female through the analysis of accounts posted on an Androgen Insensitivity Syndrome support group website. We investigated management of narrative identity following diagnosis, focusing on barriers and aids to narrative revision. Barriers included the sense of stigma arising from ...

Lactational Raynaud's syndrome may be misdiagnosed as infectious mastitis on the basis of the breast pain. The objective of this work was to elucidate if microbiological analysis of milk may contribute to the differentiation of both conditions. Ten lactating women clinically diagnosed by Spanish lactation consultants were included in the ...

Tripterygium wilfordii Hook F (TwHF) is a Chinese herbal medicine with immunosuppressive effects and an established history of use in the treatment of inflammatory and autoimmune diseases. We have carried out a meta-analysis of randomized controlled trials (RCTs) and quasi-RCTs which assessed the effectiveness of TwHF in the treatment for ...

A brief and comprehensive review on mitochondrial cytopathies is reported showing the extreme clinical and genetic heterogeneity of these disorders. Syndromes of mitochondrial cytopathiesencompass most of the medical specialties and diagnosis of mitochondrial cytopathies is complicated,needing the combination of multiple expertise: muscle morphology, neuroradiology, biochemistry(enzymology, chemical analysis), and genetics.

BACKGROUND: Although diverse definitions have been construed for burnout syndrome, most authors consider it to be a single phenomenon, the result of chronic work-related stress. However, in order to enable specific intervention strategies to be adopted, it is first necessary to establish different profiles for the syndrome. In this respect, ...

We present a patient with a novel heterozygous deletion of 7q11.22-q11.23. Standard cytogenetic analysis using the ELN cosmid 82C and the ELN/ LIMK1 cosmid 34B FISH probes suggested a diagnosis of Williams syndrome. Although he has supravalvular aortic stenosis and peripheral pulmonary artery stenosis, which are common in this condition, ...

Biomarker search using multidimensional native liquid fractionation of serum in microplates was evaluated. From different donors, homologous sample fractions with UV absorbance depending on state of illness were selected, and their constituents were identified and quantitated by MS. Analysis of sera of patients with Alport syndrome and severe inflammation proved ...

Our aim was to demonstrate a digital analyzing method that could extract the potential of early excitation derived from accessory conductive pathway (ACP) from fusion of the QRS complex wave of the electrocardiogram of Wolf-Parkinson-White (WPW) syndrome. A 13-year-old boy with WPW syndrome received successful catheter ablation therapy. ECG was ...

Small-for-size (SFS) graft syndrome is one of the major causes of graft loss in living donor liver transplantation (LDLT). We examined whether splenectomy is beneficial for overcoming SFS graft syndrome in LDLT. The patients were classified into two groups: the Sp (-) group (n=69), in which splenectomy was not performed, ...

Luminescence properties of 100-mum thick GaN epilayers grown by hydride vapor phase epitaxy (HVPE) over three different substrates: high-pressure grown n-type bulk GaN (HP-n-GaN), high-pressure bulk GaN doped with magnesium (HP-GaN:Mg), and free-standing HVPE lifted-off from sapphire (FS-HVPE-GaN), were compared by means of one-photon and two-photon excitations. The contribution of ...

DiGeorge (del22q11.2) syndrome is estimated to occur in 1:4,000 births, is the most common contiguous-gene deletion syndrome in humans, and is caused by autosomal dominant deletions in the 22q11.2 DiGeorge syndrome critical region (DGCR). Multiple microarray methods have been developed recently for analyzing such copy number changes, but data analysis ...

To date, despite widespread availability of time series data on multiple syndromes, multivariate analysis of syndromic data remains under-explored. We present a non-parametric multivariate framework for early detection of temporal anomalies based on principal components analysis of historical data on multiple syndromes. We introduce simulated outbreaks of different shapes and ...

An 18-year-old male developed a severe serotonin syndrome after recreational ingestion of Coricidin HBP (chlorpheniramine 4 mg and dextromethorphan hydrobromide 30 mg). Propofol infusion rapidly normalized his agitation, neuromuscular hyperactivity, and autonomic instability. Confirmatory analysis demonstrated a dextromethorphan serum concentration of 930 ng/mL. Dextromethorphan can produce serotonin syndrome in the ...

Digital image analysis of faces has been demonstrated to be effective in a small number of syndromes. In this paper we investigate several aspects that help bringing these methods closer to clinical application. First, we investigate the impact of increasing the number of syndromes from 10 to 14 as compared ...

This report deals with a case of Sézary syndrome, a rare peripheral T-cell lymphoproliferative disorder, in which cytogenetic analysis performed during the disease transformation revealed the presence of a t(9;22) (q34;q11.2) translocation. Molecular analyses identified a new transcript, an e8a4 BCR-ABL fusion mRNA which could be responsible for the disease ...

Pseudoexfoliation (PEX) syndrome is a common ocular disease that also affects the cornea. A case of clinical PEX syndrome, studied by in vivo corneal confocal microscopy is reported. The morphological analysis of the confocal images demonstrated hyper-reflective deposits and several dendritic cells in the basal epithelial layer. A fibrillar subepithelial ...

It is a matter of debate whether the development of theory of mind (ToM) depends on linguistic development or is, rather, an expression of cognitive development. The study of genetic syndromes, which are characterized by intellectual impairment as well as by different linguistic profiles, may provide useful information with respect ...

The obstructed defecation syndrome is a frequent condition in the female population. Rectocele and rectal intussusception may cause symptoms of obstructed defecation. The aim of this study is to carry out an economic cost-revenue analysis comparing the rectocele and the rectal intussusception surgical techniques using a double-transanal, circular stapler (Stapled ...

To test the possibility that shrimp pond rotifer resting eggs and hatched rotifers could transmit white spot syndrome virus (WSSV) to crayfish (Procambarus clarkii), we injected crayfish with rotifer and resting egg inocula that were WSSV-positive only by dot-blot analysis of PCR products. No crayfish became WSSV-positive after challenge with ...

The content of gamma-oryzanol and the composition of steryl ferulates were determined in brown rice of European origin using on-line coupled liquid chromatography-gas chromatography (LC-GC). Analysis of 30 brown rice samples of various cultivars, grown at different sites and in different seasons, revealed the gamma-oryzanol content to range from 26 ...

Hypokalemic paralysis is rarely seen as the presenting feature in patients with Gitelman syndrome. We report a Chinese man who presented with periodic paralysis, in whom molecular analysis revealed compound heterozygous inheritance of three mutations of the thiazide-sensitive sodium chloride cotransporter. Family history revealed intrafamilial variation in phenotypes. Gitelman syndrome ...

This paper examines Meynert's contribution to aphasia, in particular the suggestion that Meynert already had described the syndrome of sensory aphasia. I examine Meynert's own writings on this subject, Wernicke's statements on this issue and biographies of Meynert and Wernicke. I argue that Meynert did not describe sensory aphasia, nor ...

Although the clinical manifestations such as drowsiness, brisk reflexes, extensor plantar responses and hemisensory disturbance usually are considered to suggest Bickerstaff's brainstem encephalitis (BBE) rather than Miller Fisher syndrome (MFS), the nosological relationship between BBE and MFS has yet to be established. Herein, we report upon a 58-year-old man who ...

According to several authors cranio-cerebello-cardiac (3C) syndrome is an autosomal recessive disorder. This opinion was based on pedigree inspection without formal segregation analysis. Recently, the assumption of autosomal recessive inheritance was challenged by the observation of overlapping features with 6p deletions. We therefore performed segregation analysis by means of methods ...

BACKGROUND: Nutcracker syndrome is characterized by gross haematuria caused by left renal vein (LRV) entrapment. OBJECTIVE: To assess the role of LRV ultrasonography in the diagnosis of the nutcracker syndrome in children. MATERIALS AND METHODS: Twelve children (eight male, four female; mean age 12.8 years) with venographically confirmed nutcracker syndrome ...

We describe a fetus with androgen insensitivity syndrome diagnosed at 16 weeks' gestation with two-dimensional (2D) and four-dimensional (4D) sonography and karyotype analysis in a 37-year-old pregnant woman. Two-dimensional (2D) sonography revealed a female phenotype. Karyotype analysis revealed an unremarkable 46,XY chromosomal complement. Repeat 4D sonography confirmed a female phenotype ...

People with Williams syndrome are extremely sociable, empathic, and expressive in communication. Some researchers suggest they may be especially sensitive to perceiving emotional expressions. We administered the Faces and Paralanguage subtests of the Diagnostic Analysis of Nonverbal Accuracy Scale (DANVA2), a standardized measure of emotion recognition for basic emotions to ...

BACKGROUND: The influence of working conditions on the development of burnout syndrome was assessed in anesthetists working at a university hospital. METHODS: Self-reporting questionnaires were used to assess physical health and emotional well-being (Health and Stress Profile), burnout syndrome (Maslach Burnout Inventory) and working conditions (Instrument for Stress-Oriented Task Analysis) ...

This study aims to establish preliminary validity of the Prodromal Questionnaire (PQ), a 92-item self-report screening measure for prodromal and psychotic symptoms. Adolescents and young adults (N = 113) referred to a prodromal psychosis research clinic completed the PQ and the Structured Interview for Prodromal Syndromes (SIPS [Miller, T.J., McGlashan, ...

This study aims to establish preliminary validity of the Prodromal Questionnaire (PQ), a 92-item self-report screening measure for prodromal and psychotic symptoms. Adolescents and young adults (N = 113) referred to a prodromal psychosis research clinic completed the PQ and the Structured Interview for Prodromal Syndromes (SIPS [Miller, T.J., McGlashan, ...