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Blalock Eric M - - 2012
We determined whether gene expression profiles in urine sediment could provide noninvasive markers for interstitial cystitis/bladder pain syndrome with and/or without Hunner lesions. Fresh catheterized urine was collected and centrifuged from 5 controls, and 5 Hunner lesion-free and 5 Hunner lesion bearing patients. RNA was extracted from pelleted material and ...
Matsumoto Seiji - - 2011
The association between metabolic syndrome and lower urinary tract symptoms has been attracting enormous interest and attention. This enthusiasm is based on the presence of many common risk factors being involved in both metabolic syndrome and lower urinary tract symptoms, as shown by various epidemiological studies. Metabolic syndrome and lower ...
Kim Jayoung - - 2011
A unique glycopeptide, antiproliferative factor (APF), has been suggested as a urinary biomarker and potential mediator of long-term bladder disorder Interstitial Cystitis/Painful Bladder Syndrome. There is no known cause for this disease. Several mechanistic approaches have been employed to address the underlying mechanism whereby APF regulates cellular responses in the ...
Tunitsky E - - 2011
PURPOSE: We determined the genetic contribution of and associated factors for bladder pain syndrome using an identical twin model. MATERIALS AND METHODS: Multiple questionnaires were administered to adult identical twin sister pairs. The O'Leary-Sant Interstitial Cystitis Symptom and Problem Index was administered to identify individuals at risk for bladder pain ...
Moreno-Palacios Jorge - - 2011
OBJECTIVE: To present the case of a woman with the diagnosis of transitional cell carcinoma of the bladder and Stauffer's syndrome. METHOD: The clinical and radiological files were analyzed, and a bibliographic review was performed. RESULTS: We present an 82 year old female with a four month history of hematuria, ...
Solomon T - - 2011
We report the case of a 29-week preterm infant with PHACE (posterior fossa malformations, hemangionas, arterial anomalies, cardiac anomalies, eye anomalies) syndrome. PHACE syndrome is a neurocutaneous disorder with large facial segmental hemangionas associated with anomalies of the brain, eye, heart and aorta. The hemangiomas in our patient were problematic, ...
Ribback Silvia - - 2011
Multiple, simultaneously occurring hemangiomas in one or more organs are known as hemangiomatosis syndromes in the context of phacomatosis manifesting in childhood. Nevertheless, hemangiomas of the serous membranes are extremely rare and often present as solitary lesions. We report the case of an elderly patient who suffered from diffuse hemangiomatosis ...
Ellis Harold - - 2011
The syndrome of bladder neck obstruction, often leading to retention of urine, in ageing men has been recognised since earliest times. Catheterisation for the relief of urinary retention was used by the ancient Chinese and Egyptians and is described in the writings of the Indian surgeon Susrata, who flourished in ...
Broecker Justine S - - 2011
Nephrogenic adenoma (NA) is a rare lesion of the urinary tract widely considered to be a metaplastic response to urothelial injury. Herein, we present the case of an 8-year-old male with prune belly syndrome who presented with gross hematuria. Investigation revealed a bladder mass; however, upon cystoscopic examination, multiple polypoid ...
Smets P M Y - - 2011
Renal function was assessed in 25 dogs with Cushing's syndrome and in 12 healthy controls. Routine renal parameters and glomerular filtration rate (GFR) were measured and urinary biomarkers such as urinary albumin (uALB), urinary immunoglobulin G (uIgG), and urinary retinol-binding protein (uRBP) were assessed by ELISA. Urinary N-acetyl-β-D-glucosaminidase activity (uNAG) ...
Berry Sandra H SH RAND Corporation, Santa Monica, California.90407-2138, USA. - - 2011
Bladder pain syndrome/interstitial cystitis is a poorly understood condition that can cause serious disability. We provide the first population based symptom prevalence estimate to our knowledge among United States adult females. We developed and validated 2 case definitions to identify bladder pain syndrome/interstitial cystitis symptoms. Beginning in August 2007 we ...
Roth C - - 2011
The posterior reversible encephalopathy syndrome is an increasingly recognised disorder. Most patients have several symptoms; seizures are the most frequent, often multiple or status epilepticus. A combination of seizures, visual disturbance and/or headache, in particular, should lead to an early brain MRI to reveal the typical pattern of bilateral hyperintensities ...
Bolgeo Tatiana - - 2011
Parkinson's disease and parkinson-like syndromes are frequently associated with disautonomic disorders, particularly urinary symptoms, with various degrees of severity. Urinary symptoms can represent the debut of an extrapiramidal syndrome and in most cases are urgency and incontinence due to detrusor hyperreflexia. Urodynamic studies allow to understand the causes of urinary ...
Alkonyi Bálint B Carman and Ann Adams Department of Pediatrics, Wayne State University School of Medicine, Detroit, Michigan 48201, - - 2011
Approximately 15% of patients with Sturge-Weber syndrome demonstrate bilateral intracranial involvement, and the prognosis of these patients is considered particularly unfavorable. We reviewed the clinical and neuroimaging features of patients with Sturge-Weber syndrome and bilateral intracranial involvement. Seizure variables, the presence of hemiparesis, and the degree of developmental impairment at ...
Kohl Z - - 2011
Theophylline is known to increase the risk of epileptic seizures and might have a role in seizure-induced brain damage. We present a 55-year-old man who developed an amnesic syndrome after status epilepticus, caused by accidental theophylline intoxication. Imaging studies revealed acute, selective bilateral hippocampal damage, which corresponded to severe disturbances ...
Patel Sandeep M - - 2011
Valproate-induced Fanconi Syndrome (VFS) is a rare complication of this therapy that has been previously described only in children with epilepsy. We report the first known case of an adult with VFS. Metabolic derangements lead patients to present with fatigue, confusion, weakness, and even bone fractures. Identification and discontinuation of ...
Roshal David - - 2011
We describe a 16-year-old woman with a rare POLG1 A467T/W748S genotype, with a wide range of neurological manifestations, including focal parieto-occipital lobe seizures, migraine headaches, cerebellar ataxia, sensory-motor axonal neuropathy, and impairment of visual perception and cognitive function. Treatment of epilepsy in patients with a POLG1 compound heterozygous A467T/W748S genotype ...
Kashouty Rabih R Department of Neurology at Beth Israel Medical Center, New York, NY, United States. - - 2011
Milk-alkali syndrome is mainly caused by the ingestion of large amounts of calcium and absorbable alkali. This syndrome can lead to metastatic calcification, renal failure and metabolic alkalosis secondary to hypercalcemia. Hypercalcemia is rarely a cause of seizure activity. Very few case reports have been published linking seizure to hypercalcemia, ...
Lee Sooyoung - - 2011
Acute encephalopathy in childhood is frequently associated with common infections, especially in East Asia. Various types have been identified although many cases remain unclassified. Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease presenting impairment of cortisol biosynthesis. We report three CAH children with acute infection-related encephalopathy. They exhibited disturbed ...
Gonzalez-Duarte Alejandra - - 2011
OBJECTIVE: Panayiotopoulos syndrome is a benign idiopathic childhood epilepsy characterized by altered autonomic activity at seizure onset. METHODS: Three siblings with Panayiotopoulos syndrome underwent 24-hour EEG recording and head-up tilt testing with continuous blood pressure and RR interval monitoring. Plasma catecholamines and vasopressin were measured while supine, upright, and during ...
Inoue Hirofumi - - 2011
We, for the first time, report a boy with West syndrome associated with Klinefelter's syndrome. He developed episodes of repetitive tonic spasms at the age of 4months. He had developmental delays and hypsarrhythmia on interictal electroencephalography recording. His karyotype turned out to be 47, XXY, while we failed to observe ...
Guerrini Renzo - - 2011
The term "borderline" severe myoclonic epilepsy of infancy (SMEIB) has been used to designate patients in whom myoclonic seizures or generalized spike and wave activity are absent. It has also been used loosely to indicate mild forms of the syndrome. It is now acknowledged that the course and outcome of ...
Bureau Michelle - - 2011
In Dravet syndrome, interictal and ictal electroencephalography (EEG) recording may remain misleading, and are not specifically altered. Moreover, there is a great polymorphism of clinical and EEG seizure types. Some can be observed in other epileptic syndromes, but others are more specific--particularly the peculiar unilateral seizures, the falsely generalized seizures, ...
Crumrine Patricia K - - 2011
Lennox-Gastaut syndrome is an epilepsy syndrome that begins in childhood (between 1 and 8 years of age), worsens during latency and persists frequently into adulthood, is refractory to antiepileptic medications, and results in cognitive decline and behavioral problems in affected individuals. Seizure types consist primarily of axial tonic, atonic, and ...
Chiron Catherine - - 2011
Dravet syndrome is a highly pharmaco-resistant form of epilepsy. Valproate and benzodiazepines are the first-line treatment but are usually insufficient therapeutic options. Lamotrigine, carbamazepine and high doses of intravenous phenobarbital can aggravate seizures and should be avoided. Topiramate, levetiracetam, bromide and ketogenic diet also provide substantial efficacy as adjunctive therapy ...
Guerrini Renzo - - 2011
Brain magnetic resonance imaging (MRI) studies in patients with Dravet syndrome and SCN1A mutations have shown abnormal findings in a small minority of patients. The origin of the structural abnormalities--such focal brain atrophy, cortical dysplasia, and hippocampal sclerosis--observed in some children remains unclear. There seems to be no correlation between ...
Al-Makhzomi Mohamad - - 2011
Sturge-Weber syndrome (SWS) is a congenital, noninherited neurocutaneous syndrome, characterized by angiomas located in the facial skin and leptomeninges and often associated with severe epilepsy. We report a paradoxical finding on FDG PET with interictally increased metabolism in the affected hemisphere and contralateral cerebellum in an infant with epilepsy due ...
Dravet Charlotte - - 2011
Dravet syndrome was described in 1978 by Dravet (1978) under the name of severe myoclonic epilepsy in infancy (SMEI). The characteristics of the syndrome were confirmed and further delineated by other authors over the years. According to the semiologic features, two forms have been individualized: (1) the typical, core, SMEI; ...
Ceulemans Berten - - 2011
Dravet syndrome, or as it was called in the past 'severe myoclonic epilepsy in infancy', is a drug-resistant epilepsy first described by Charlotte Dravet in 1978. Besides the well-known and well-described therapy resistance, Dravet syndrome dramatically impacts the development and behaviour of the affected children. As it is still not ...
Guerrini Renzo - - 2011
Some studies have demonstrated that cognitive decline occurs in Dravet syndrome, starting shortly after the onset of seizures, rapidly progressing and then plateauing within a few years. It is unclear whether children that develop the syndrome had entirely normal cognitive skills before seizure onset, since subtle impairment easily escapes recognition ...
Chiron Catherine - - 2011
Dravet syndrome (DS) is one of the most pharmacoresistant epilepsy syndromes. Valproate is used as a first-line agent to prevent the recurrence of febrile seizures and oral/nasal/rectal benzodiazepine is used for any long-lasting seizures, but these agents are most often insufficient. Lamotrigine, carbamazepine, and high doses of intravenous phenobarbital should ...
Bay Mihee J - - 2011
Sturge-Weber syndrome is a rare congenital disorder. Seizures, stroke-like episodes, glaucoma, headache, and developmental delay are frequently associated features. An Internet-based questionnaire was designed to assess the frequency of use, effectiveness, and safety of aspirin treatment in Sturge-Weber syndrome. Thirty-four of 98 subjects who completed the survey reported having used ...
Hagebeuk Eveline E O - - 2011
Rett syndrome is characterized by the development of stereotypic hand movements and seizures, which are often difficult to treat. Previous studies have shown conflicting results during add-on folinic acid. Here, the authors reevaluate the response to folinic acid in terms of epilepsy control and electroencephalography features. They performed a randomized, ...
Verrotti Alberto - - 2011
Early-onset pure absence epilepsy has not yet considered in the International League Against Epilepsy classification, but several reports have supported its existence as a distinct epileptic syndrome primarily manifesting with typical absences in early childhood. This review summarizes the current understanding on this epilepsy.   Early-onset pure absence epilepsy is ...
Byrne Susan - - 2011
GLUT-1 deficiency syndrome (GLUT-1 DS) is a disorder of cerebral glucose transport associated with early infantile epilepsy and microcephaly. We report two boys who presented with refractory absence epilepsy associated with hypoglycorrhachia, both of whom have genetically confirmed GLUT-1 DS. We propose that these children serve to expand the phenotype ...
Pesaturo Kimberly A - - 2011
Abstract Infantile spasms describe a pediatric epilepsy syndrome characterized by frequent clusters of brief symmetric muscle contractions; the condition is often associated with developmental delay. When infantile spasms are accompanied by hypsarrhythmia on electroencephalogram, the condition is labeled West syndrome. The mainstay of treatment for infantile spasms is adrenocorticotropic hormone; ...
Isohanni P - - 2011
Mitochondrial DNA polymerase γ (POLG1) mutations in children often manifest as Alpers syndrome, whereas in adults, a common manifestation is mitochondrial recessive ataxia syndrome (MIRAS) with severe epilepsy. Because some patients with MIRAS have presented with ataxia or epilepsy already in childhood, we searched for POLG1 mutations in neurologic manifestations ...
Fleming Peter - - 2011
Abstract The life-threatening DRESS (drug rash with eosinophilia and systemic symptoms) syndrome is characterized by the presence of at least three of the following findings: fever, exanthema, eosinophilia, atypical circulating lymphocytes, lymphadenopathy, and hepatitis. This syndrome is difficult to diagnose, as many of its clinical features mimic those found with ...
Qureshi Ahmad Usaid - - 2011
Eight years old girl presented with mucocutaneous candidiasis, nail dystrophy, twitching left half of face, progressively increasing generalized skin hyperpigmentation and hypopigmented patches over both shins. Her investigations revealed low intact PTH level, low serum cortisol, high ACTH, impaired glucose tolerance test and candidal onycomycosis. She was diagnosed as Polyglandular ...
Díaz Negrillo A - - 2011
INTRODUCTION: The Lennox-Gastaut syndrome (LGS) is one of the most severe epileptic encephalopathies of childhood, characterized by electro-clinical triad of generalized spike-wave activity, slow (POL) in the electroencephalogram (EEG), multiple types of seizures and development delay. This paper intends to describe the syndrome in a patient with a history of ...
Morana Giovanni - - 2011
We present the unusual neuroimaging findings of focal cerebral leptomeningeal enhancement in association with corticopial calcifications, underlying a parietal convexity lipoma in 2 pediatric patients with normal psychomotor development, unremarkable physical findings, and recent onset of epilepsy. To our knowledge, this clinical and neuroradiological association has not been previously reported ...
Moseley Brian D - - 2011
Generalized periodic epileptiform discharges can occur in a variety of epileptic syndromes and herald impending seizures. Such discharges are also extremely rare in children. Cerebral visual impairment can be associated with generalized and partial onset seizures, particularly those involving the occipital lobe. The authors present a case of a 10-month-old ...
Tadrous R - - 2011
Sturge-Weber syndrome consists of facial capillary malformation (port-wine stain) and abnormal blood vessels in the brain or eye. Seizures, developmental delay and intracranial and airway angiomata are principal concerns. We report a 28-year-old primiparous woman at 41weeks of gestation with Sturge-Weber syndrome who developed unilateral weakness, aphasia, blurred vision and ...
Balasubramanian M - - 2011
Chromosome 16p13.11 has recently been reported as a region of recurrent microdeletion/duplication, which may contribute to a specific clinical phenotype of epilepsy, significant learning difficulties and distinct facial dysmorphism. The 16p13.11 microdeletion syndrome is associated with schizophrenia, developmental delay and idiopathic generalised epilepsy. Haploinsufficiency of genes in 16p13.11 has been ...
Chopra Saurabh S - - 2011
Cyclical vomiting syndrome is a paroxysmal, condition characterized by recurrent severe episodes of vomiting lasting for hours to days, with variable intervals of normal health in between with no apparent cause of the vomiting. We hereby report a 10 yr old girl with cyclical vomiting syndrome with multiple, bisynchronous occipitally ...
Choi Eun Mi - - 2011
Ohtahara syndrome (OS) is a rare epileptic encephalopathy that is characterized by an abnormal electroencephalogram (EEG) and intractable seizures in the neonatal and early infantile period. The patient of this reported case was delivered normally at 39 weeks of gestation without any complication. One week after birth, seizures that were ...
Siniatchkin Michael - - 2011
Purpose:  Even if etiologies of Lennox-Gastaut syndrome (LGS) are diverse, the multiple causes converge into a final common pathway that results in this specific epilepsy phenotype. There is little knowledge, however, about neuronal networks that may be a part of this pathway. Methods:  To investigate these networks, 11 children with ...
Staykov Dimitre - - 2011
Posterior reversible encephalopathy syndrome (PRES) is characterized by headache, altered mental status, visual disturbances, and seizures. Radiological features typically include edema of the posterior cerebral regions, especially of the parietooccipital lobes. Atypical imaging features, such as involvement of anterior cerebral regions, deep white matter, and the brain stem are also ...
Chhun S S Inserm, U663, Paris, - - 2011
Although LVT is currently extensively prescribed in childhood epilepsy, its effect on the panel of refractory epilepsy syndromes has not been entirely evaluated prospectively. In order to study the efficacy and safety of LVT as adjunctive therapy according to syndromes, we included 102 patients with refractory seizures (6 months to ...
Ghia Darshan - - 2011
Postpartum cerebral angiopathy is a well-recognised subgroup of the reversible vasoconstriction syndromes. Increasingly described is a delay between clinical onset and angiographic changes. We report a patient who presented 19days postpartum with severe thunderclap headaches, vertigo and a seizure. The clinical syndrome preceded evidence of extensive vasoconstriction on MRA imaging ...
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