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Emrick Lisa T LT Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA; Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, - - 2014
Congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies (CLOVES) syndrome, a segmental overgrowth syndrome, is caused by post zygotic somatic mutations in PIK3CA, a gene involved in the receptor tyrosine kinase phosphatidylinositol 3-kinase (PI3)-AKT growth-signaling pathway. Prenatal ultrasound ...
Khan Muhammad A - - 2014
Acute coronary syndrome (ACS) is a rare disease entity among young female patients. Intra mural hematoma is a diagnostic consideration in a population at low risk for classic pathophysiologic mechanisms underlying acute coronary syndromes, namely plaque rupture or plaque erosion. We describe a case of a young female patient presenting ...
Bellaud Guillaume G Department of Dermatology, University Hospital Jean Minjoz, Besançon, - - 2014
PHACE syndrome is defined by infantile hemangiomas associated with a spectrum of malformations. These abnormalities involve posterior fossa of the brain, cerebral vasculature, heart or aorta, eyes, and midline thorax or sternum. Six cases of PHACE syndrome were diagnosed between 2002 and 2011 in the Department of Dermatology at Besançon ...
Barrabés José A JA Servicio de Cardiología, Hospital Universitario Vall d'Hebron, VHIR, Universidad Autónoma de Barcelona, Barcelona, España. Electronic address: - - 2014
To identify the current mortality and management of patients admitted for suspected acute coronary syndrome in Spain. The last available registry (2004-2005) reported an in-hospital mortality of 5.7%. The study included patients consecutively admitted between January and June 2012 at 44 hospitals selected at random. Information was collected on clinical ...
Li Ying-Qing YQ Emergency Department 1 Panfu Road, Guangzhou First People's Hospital, Guangzhou Medical University, Guangzhou, People's Republic of - - 2014
The goal of the present study was to compare the prognoses of patients with non-ST-elevation acute coronary syndromes who were treated with invasive or conservative treatment strategies. We performed a meta-analysis of studies of patients with non-ST-elevation acute coronary syndromes to assess the benefits of an invasive strategy vs. a ...
Todorova Margarita G - - 2014
Williams-Beuren syndrome is characterized by mild mental retardation, specific neurocognitive profile, hypercalcemia during infancy, distinctive facial features and cardiovascular diseases. We report on complete ophthalmologic, sonographic and genetic evaluation of a girl with a clinical phenotype of Williams-Beuren syndrome, associated with unilateral anterior segment dysgenesis and bilateral cleft of the ...
Jordan Christopher P CP Division of Cardiology, Children's National Medical Center, Washington D.C.; Division of Cardiology, Department of Pediatrics, George Washington University School of Medicine, Washington - - 2014
Procainamide is known to prolong PR, QRS, and QTc intervals in adults and is utilized to unmask the distinct electrocardiographic signatures, including right bundle branch block pattern and right precordial ST segment elevation seen with Brugada syndrome. This study analyzes a pediatric case series of procainamide challenges done to evaluate ...
Nikus Kjell K Heart Center, Tampere University Hospital. Biokatu 6, 33520 Tampere, Finland. - - 2014
The electrocardiogram (ECG) findings in acute coronary syndrome should always be interpreted in the context of the clinical findings and symptoms of the patient, when these data are available. It is important to acknowledge the dynamic nature of ECG changes in acute coronary syndrome. The ECG pattern changes over time ...
Trehan Vijay Kumar VK Department of Cardiology, GB Pant Hospital. New Delhi, India. - - 2014
Inferior vena cava (IVC) stenting in patients suffering from Budd-Chiari syndrome (BCS) is sometimes complicated by stent migration or misplacement. Here, we describe a novel stent anchoring technique to prevent this complication while using balloon-mounted Palmaz stent for angioplasty of short-segment stenosis in the IVC.
Bhojraj Shilpa S Department of Anaesthesiology, Breach Candy Hospital, Mumbai, Maharashtra, - - 2014
Takotsubo cardiomyopathy also known as transient apical ballooning syndrome or stress induced reversible cardiomyopathy is an increasingly reported syndrome generally characterized by transient systolic dysfunction of the apical and/or mid segment of the left ventricle. It is frequently precipitated by severe stress and clinically mimics an acute ST-elevation myocardial infarction, ...
Quek Amy May Lin AM Department of Medicine, National University Health System, - - 2014
Inflammatory neuropathies have been reported to occur in association with nephrotic syndrome. Their underlying immuno-pathogenic mechanisms remain unknown. A 50-year-old woman concurrently presented with acute-onset chronic inflammatory demyelinating polyneuropathy and nephrotic syndrome secondary to focal segmental glomerulosclerosis. Both neuropathy and proteinuria improved after plasma exchange and steroids. Literature review of ...
Rasmussen Maria M Department of Clinical Genetics, Aarhus University Hospital, Skejby, Aarhus, - - 2014
Mosaic PIK3CA-mutations have been described in an increasing number of overgrowth syndromes. We describe a patient with a previously unreported segmental overgrowth syndrome with the mutation, PIKCA3 c.3140A>G (p.His1047Arg) in affected tissue diagnosed by exome sequencing. This PIK3CA-associated segmental overgrowth syndrome overlaps with CLOVES syndrome and fibroadipose hyperplasia but is ...
Kanters Jørgen K JK Danish National Foundation Research Centre in Arrhythmias (DARC), Laboratory of Experimental Cardiology, Department of Biomedical - - 2014
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 ...
Bronzetti Gabriele - - 2014
Infantile hemangiomas (IHs) are the most common benign tumors of infancy and usually they don't require specific therapy. In 10-20% of cases IHs are able to generate complication and medical/surgical intervention is needed. For many decades standard treatment consisted in oral or intralesional corticosteroids untill Lèautë-Labrëze and colleagues published the ...
García-Niebla Javier J Servicios Sanitarios del Área de Salud de El Hierro, Valle del Golfo Health Center, Islas Canarias, Spain. Electronic address: - - 2014
In many cases, failure to perform an electrocardiogram according to established standards can lead to incorrect diagnosis. When this error involves a disease that can result in sudden death such as Brugada syndrome, diagnostic procedures are not without risk for the patient. A 20year-old man visited his family doctor for ...
Hartley Aj A Newham University Hospital, Barts Health NHS Trust, London, - - 2014
A patient referred to the genitourinary clinic for positive syphilis serology was found to have symptoms and signs of nephrotic syndrome. A renal biopsy showed focal segmental glomerulosclerosis (FSGS). Doxycycline 200 mg twice daily for 28 days coincided with considerable decrease in proteinuria and rise in serum albumin, suggesting a causal ...
Kothari Mihir M Department of Pediatric Ophthalmology and Adult Strabismus, Department of Cornea Services, Aditya Jyot Eye Hospital, Wadala, Mumbai, Maharashtra, - - 2014
Progressive anterior segment fibrosis syndrome (ASFS), after intraocular surgery in older children (≥9 years) and adults with congenital aniridia, is described in the literature. In this report, we describe an unique case of ASFS in an infant with congenital aniridia following a combined trabeculotomy-ectomy and its recurrence after a descemet ...
Davidovic Goran G Clinic of Cardiology, Clinical Center Kragujevac Kragujevac, - - 2014
It is well-established that acute coronary syndromes occurs when thrombus formation from atheromatous plaques erode or rupture in the advanced stage of atherosclerotic process with severe reduction of coronary blood flow. Also, some conditions may trigger acute coronary syndrome even in the absence of prior cardiovascular disease, and with normal ...
Kronbichler Andreas A Medical University Innsbruck, Department of Internal Medicine IV, Nephrology and Hypertension, Innsbruck, - - 2014
Implication for health policy/practice/research/medical education: Reports on patients with steroid-dependent nephrotic syndrome and underlying minimal change disease or focal segmental glomerulosclerosis have shown promising results. There is a strong need for more trials conducted in a prospective, controlled manner to clearly recommend rituximab therapy in this indication on a regular ...
Akyol A A Department of Neurology, Faculty of Medicine, Gazi University, 06500 Ankara, - - 2014
A 47-year-old female with a prior history of POEMS (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes) syndrome was admitted with transient ischemic attacks complicated by dysarthria and right-sided hemiparesis. A blood survey indicated thrombocytosis and hyperfibrinogenemia while imaging of intracranial vasculature showed occlusion of the bilateral middle cerebral arteries. ...
Santos Thiago de Santana TD Department of Oral and Maxillofacial Surgery and Periodontology, Ribeirão Preto School of Dentistry, University of São Paulo, Ribeirão Preto, SP, - - 2014
Supernumerary teeth (ST) are uncommon alterations of development that may appear in either of the dental arches and that are frequently associated with syndromes such as cleidocranial dysplasia and Gardner syndrome. Multiple ST in individuals with no other disease or syndrome are very rare. In view of this situation, correct ...
Hasegawa Kanae K Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, - - 2014
We herein describe two patients with Brugada syndrome in whom J-waves were successfully modified by drugs. Case 1 was a 54-year-old man who presented with repeated ventricular fibrillations (VF) and J-point elevation in the right precordial and lateral leads. After administration of cilostazol (200 mg/d), J-waves disappeared and coved-type ST-segment ...
Merjaneh Lina L Division of Endocrinology and Diabetes, Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, - - 2014
The role of growth hormone (GH) and its therapeutic supplementation in the trichorhinophalangeal syndrome type I (TRPS I) is not well delineated. TRPS I is a rare congenital syndrome, characterized by craniofacial and skeletal malformations including short stature, sparse, thin scalp hair and lateral eyebrows, pear-shaped nose, cone shaped epiphyses ...
Kim Hyoun-Joong HJ Department of Aquatic Life Medicine, College of Ocean Science and Technology, Kunsan National University, 558 Daehakno, Gunsan 573-701, Republic of - - 2013
Mass mortality of the edible sea squirt Halocynthia roretzi since the 1990's in the southern and eastern seas of Korea has caused large economic losses. The disease is characterized by symptoms of initially softened and thinned tunics that eventually rupture. Thus, the disease is called soft tunic syndrome (STS); however, ...
Pföhler Claudia C Department of Dermatology - - 2013
Abstract The β-blocker propranolol has become a valuable and effective drug for the treatment of infantile hemangiomas. Its therapeutic action probably results from vasoconstriction, blocking of angiogenesis through effects on vascular endothelial growth factor and induction of apoptosis. It is reasonable to suggest that propranolol can also be used effectively ...
Lo C-S - - 2013
Happle-Tinschert syndrome (HTS) is a rare syndrome characterized by segmentally arranged basaloid follicular hamartomas (BFH) associated with ipsilateral osseous, dental and cerebral abnormalities. Happle and Tinschert first reported this disorder in 2008, and three cases with similar presentations have since been reported. We report another case, that of a 40-year-old ...
Momeni Ali A Division of Nephrology, Department of Internal Medicine, Shahrekord University of Medical Sciences. Shahrekord, Iran. - - 2013
Primary ciliary dyskinesia is characterized by congenital impairment of mucociliary clearance. Kartagener syndrome (KS) is a clinical variant of primary ciliary dyskinesia which is involved in situs inversus associated with chronic respiratory infections. In addition, glomerular disease in KS syndrome is rare and reported cases are limited. We had a ...
Sánchez Victoria O VO Hospital Virgen del Castillo, Yecla, Spain. Electronic address: - - 2014
A 58-year-old female without cardiovascular risk factors, was going to be operated to repair the rotator cuff. Induction and interscalene brachial plexus block were uneventful, but after her placement for surgery the patient started with severe bronchospasm, hypotension, cutaneous allergic reaction and ST elevation on the electrocardiogram. An anaphylactic shock ...
Gül Ilker - - 2013
Atherosclerosis is the most important cause of acute coronary syndromes. The mediators that trigger vasospasm, including endothelin and serotonin, are synthesized and secreted into circulation from atherosclerotic plaques and surrounding tissues. A 68-year-old man was hospitalized due to acute coronary syndrome four times in a one-year period. The patient presented ...
Buysschaert Ian - - 2013
Syncope, non-specific ST-segment alterations and elevated troponin (cTn) are suspicious of an acute coronary syndrome (ACS). While an ACS is excluded when the coronary angiogram returns normal, the raised cTn should prompt a search for other potentially lethal diseases, such as pulmonary embolism, myocarditis or malignant ventricular arrhythmias. Here we ...
Rezus Ciprian - - 2013
Early repolarization syndrome (ERS) was previously considered as a benign variant, but it has recently emerged as a risk marker for idiopathic ventricular fibrillation (VF) and sudden death. As measured by electrocardiogram (ECG), early repolarization is characterized by an elevation of the J point and/or ST segment from the baseline ...
Yin Qinghua - - 2013
Abstract In recent years, focal segmental glomerulosclerosis has become the commonest cause of the nephrotic syndrome seen in adults. Secondary focal segmental glomerulosclerosis is observed when glomerular workload is increased. We report a case of focal segmental glomerulosclerosis with nephrotic syndrome secondary to high-altitude polycythemia (HAPC). Our case points out ...
Rodrigues Rita - - 2013
The authors report the case of a 52-year-old woman with depressive syndrome, treated with lamotrigine for about five months, who went to the emergency department for atypical precordial pain. The electrocardiogram (ECG) revealed a 2-mm downsloping ST-segment elevation and negative T waves in V1 and V2. Due to suspicion of ...
Goldberger Zachary D - - 2013
Cerebrogenic ECG abnormalities, especially prominent T wave inversions and prolongation of the QT(U) interval, are well-described. Brady- and tachyarrhythmias, including polymorphic VT, have been also described in the setting of neurologic injury. We report an unusual case of a 22-year-old man who presented with idiopathic acute encephalopathy. His hospital course ...
Min Jung Hwa - - 2013
Kounis syndrome is the concurrence of acute coronary syndromes with conditions associated with mast cell activation following an allergic insult. We report a 56-year-old man who experienced a ST-segment elevation myocardial infarction after wasp stings. The patient presented without signs of anaphylaxis or shock. Coronary angiography showed an everolimus-eluting stent ...
Postema Pieter G - - 2013
In the past years a renewed interest has emerged in the implications of aberrant terminal R waves or J-ST segments, J point elevation and J waves on the electrocardiogram of patients without evidence of gross structural cardiac abnormalities because of the association with malignant arrhythmias and (familial) sudden death. There ...
de Santis Francesco - - 2013
Apical hypertrophic cardiomyopathy is part of the broad clinical and morphologic spectrum of hypertrophic cardiomyopathy. We report a patient with electrocardiographic abnormalities in whom acute coronary syndrome was excluded and apical hypertrophic cardiomyopathy was demonstrated by careful differential diagnosis.
van Diepen Sean - - 2013
OBJECTIVES:: To assess whether systemic inflammatory response syndrome is associated with morbidity and mortality in ST-elevation myocardial infarction. DESIGN AND SETTING:: Secondary analysis of multicenter randomized controlled trials. PATIENTS:: Complement and reduction of infarct size after angioplasty or lytics project patients (n = 1,903) with ST-elevation myocardial infarction undergoing fibrinolysis ...
Brau-Javier Cristina N - - 2013
Neuromas are benign hyperplastic proliferations of normal peripheral nerve components. These can be associated with some genodermatoses, namely Cowden syndrome and multiple endocrine neoplasia (MEN) 2B, especially when numerous lesions are present. Given the potential for malignancy (such as breast cancer, pheochromocytoma, and thyroid cancer) associated with these syndromes, other ...
Marwah Simbita A SA Department of Biochemistry, H.M. Patel Centre for Medical Care and Education, Pramukhswami Medical College, Karamsad Anand, Gujarat 388325 - - 2014
Currently employed markers for the detection of acute coronary syndrome are Troponin T, CK (Creatine Kinase) and CKMB activity. CKMB activity measured by immunoinhibition method can give falsely elevated results due to the presence of atypical CK and CKBB and at times lead to the mis-diagnosis of acute coronary syndrome. ...
Piegas Leopoldo Soares - - 2013
BACKGROUND: Brazil lacks published multicenter registries of acute coronary syndrome. OBJECTIVE: The Brazilian Registry of Acute Coronary Syndrome is a multicenter national study aiming at providing data on clinical aspects, management and hospital outcomes of acute coronary syndrome in our country. METHODS: A total of 23 hospitals from 14 cities, ...
Dégano Irene R IR Grupo de Investigación de Epidemiología y Genética Cardiovascular, Programa de Investigación en Trastornos Inflamatorios y Cardiovasculares, IMIM, Barcelona, - - 2013
Acute coronary syndromes are a leading cause of mortality, morbidity, and health care cost in Spain. The aims of this report are to estimate the number of acute coronary syndromes cases in the Spanish population in 2013 and 2021, and the trend from 2005 to 2049. We estimated the number ...
Kounis Nicholas G - - 2013
BACKGROUND: When allergy or hypersensitivity and anaphylactic or anaphylactoid insults lead to cardiovascular symptoms and signs, including acute coronary events, the result might be the recently defined nosologic entity Kounis syndrome. Vasospastic allergic angina, allergic myocardial infarction, and stent thrombosis with occluding thrombus infiltrated by eosinophils and/or mast cells are ...
Li Anthony - - 2013
More than 20 years have passed since the description of Brugada syndrome as a clinical entity. The original case series depicted patients who all had coved ST-segment elevation in the right precordial leads, associated with a high risk of sudden death and no apparent structural heart disease. As subsequent registry ...
Mitsui Norimasa - - 2013
We describe a patient with typical manifestations of 9p monosomy syndrome, including trigonocephaly and sex reversal. Array comparative genomic hybridization (CGH) revealed a 9p terminal deletion of approximately 9 Mb with the breakpoint at 9p23. We compared the deleted segments of 9p associated with reported cases of 9p monosomy syndrome ...
Abulaiti Alimujiang A Cardiology Department, Hospital of Armed Police Force of Xinjiang, No 669 South Nanchang Road, Urumqi, Xinjiang, - - 2013
Wellens' syndrome is a pattern of electrocardiographic T-wave changes associated with critical stenosis of proximal left anterior descending artery (LAD). T-waves abnormalities were found in precordial leads, especially in V2-V3 during pain-free periods, and ECG obtained during episodes of pain demonstrates upright T-waves with possible elevated or isoelectric ST segments. ...
Chinushi Masaomi - - 2013
Multiple episodes of polymorphic ventricular tachycardia (PVT), triggered by short-coupling (280-300 ms) premature ventricular complexes (PVCs) showing a right bundle branch block pattern (RBBB), occurred in a patient with Brugada syndrome. Isoproterenol infusion attenuated ST-segment elevation in lead V2-V3, but the triggered PVCs and PVT itself were not inhibited but ...
Turner-McGrievy Gabrielle G Dept. of Health Promotion, Education, and Behavior, The Univ. of South Carolina, 800 Sumter St., Suite 216, Columbia, SC 29208, USA. - - 2013
Results examining the effects of tasting profile on dietary intake and health outcomes have varied. This study examined the interaction of sweet liker (SL) and supertaster (ST) (bitter taste test through phenylthiocarbamide [PTC]) status with incidence of metabolic syndrome. Participants (n = 196) as part of baseline testing in a ...
Kaylani Samer S Division of Hematology-Oncology, Department of Pediatrics, University of Alabama at Birmingham, Birmingham, - - 2013
Infantile hemangiomas (IHs) are common benign tumors of childhood. IHs often regress satisfactorily without intervention, but a subset of IHs may lead to functional or cosmetic morbidity necessitating therapy. PHACE syndrome is characterized by a variety of neurocutaneous and vascular anomalies that typically include segmental hemangiomas. We present an infant ...
Khan Beenish - - 2013
Wellens' syndrome refers to specific ECG abnormalities in the precordial T-wave segment, which are associated with critical stenosis of the proximal left anterior descending (LAD) coronary artery culminating in an acute anterior wall myocardial infarction (MI) if the patient is not urgently revascularised. We describe the youngest reported presentation of ...
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