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Al Kaissi Ali A Department of First Medical, Ludwig Boltzmann Institute of Osteology, at the Hanusch Hospital of WGKK and, AUVA Trauma Centre Meidling, Hanusch Hospital; Department of Paediatric, Orthopaedic Hospital of Speising, Vienna, - - 2014
Congenital malformation complex of the spine and the spinal cord can be a syndromic entity rather than a symptom complex. The spinal cord lesion is usually bilaterally symmetrical, but, there are occasional cases with one or more hemivertebrae, often associated with a central bony spur splitting the cord (diastematomyelia), in ...
Lankton Julia S - - 2014
A 7.5-yr-old female southern white rhinoceros (Ceratotherium simum simum) aborted spontaneously at approximately 13 mo gestation. The fetus exhibited malformations consistent with schistosomus reflexus syndrome, including spinal inversion and ventral midline abdominal defect with externalization of abdominal viscera. A computed tomography was performed and revealed severe scoliosis, a spiral rotation ...
Mao Zhifeng - - 2014
Background: Some patients with Guillain-Barré syndrome (GBS) also have acquired demyelination of the central nervous system (CNS) (i.e. acquired demyelinating syndrome, ADS). Often, the overlap of GBS and ADS is overlooked. Therefore, we evaluated case reports of GBS/ADS overlap syndrome. Methods: We mainly performed website-based research based on articles in ...
Cooper Sally-Ann - - 2014
Early-onset dementia is common in Down syndrome adults, who have trisomy 21. The amyloid precursor protein gene is on chromosome 21, and so is over-expressed in Down syndrome, leading to amyloid b (Ab) over-production, a major upstream pathway leading to Alzheimer disease (AD). Statins (microsomal 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitors), ...
Longardt Ann Carolin AC Department of Neonatology, Charité-Universitätsmedizin Berlin, Berlin, - - 2014
Fetal cardiac tumors are a rare finding in prenatal ultrasonography. Most of them are rhabdomyoma, which are thought to be pathognomonic for tuberous sclerosis complex. We present an infant with prenatally diagnosed cardiac rhabdomyoma (CR), who was found to suffer from Beckwith-Wiedemann syndrome (BWS). This congenital overgrowth syndrome is characterized ...
Raucci Umberto U Pediatric Emergency Department, Bambino Gesù Children's Hospital, IRCCS, Rome, - - 2014
We report a case of rivastigmine poisoning resulting in a full cholinergic syndrome with nicotinic, muscarinic, and central effects requiring supportive or intensive care in a pediatric patient. A 3-year-old girl was admitted to the Emergency Department suspected of having ingested one or two pills of rivastigmine. The child was hyporeactive, ...
Chare Leone L Neuroscience Research Australia, , Sydney, - - 2014
To assess the impact of new clinical diagnostic criteria for frontotemporal dementia (FTD) syndromes, including primary progressive aphasias (PPA), on prior clinical diagnosis and to explore clinicopathological correlations. 178 consecutive neuropathologically ascertained cases initially diagnosed with a FTD syndrome were collected through specialist programmes: the Cambridge Brain Bank, UK, and ...
Yu Beibei B Basic Medicine College, Nanjing University of Chinese Medicine, Nanjing 210046, - - 2014
Inflammation exists throughout the incidence and progression of Alzheimer's disease (AD). Traditional Chinese medicine (TCM) differentiates the pathogenesis of AD as kidney essence deficiency and qi and blood deficiency as well as blood stasis in syndromes, whose action mechanisms are all associated with the intervention in its inflammatory process. Our ...
Van der Mussele Stefan S Reference Center for Biological Markers of Dementia (BIODEM), Laboratory of Neurochemistry and Behavior, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium Department of Nursing and Midwifery Sciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, - - 2014
Behavioral disturbances belong to the core symptoms of dementia and are also common in mild cognitive impairment (MCI). The identification of sets of symptoms is clinically interesting, as interventions targeting syndromes may be more effective than the management of individual symptoms. This study aimed to identify, describe, measure, and compare ...
Bredow J J Department of Orthopedics and Trauma Surgery, ZKS (BMBF 01KN1106), University Hospital of Cologne, Kerpener Straße 62, 50924 Cologne, - - 2014
Background Context. Percutaneous balloon kyphoplasty is an established minimally invasive technique to treat painful vertebral compression fractures, especially in the context of osteoporosis with a minor complication rate. Purpose. To describe the heparin anticoagulation treatment of paraplegia following balloon kyphoplasty. Study Design. We report the first case of an anterior ...
Rastegar Khodakaram K Neurosurgery ward of Rasool-e-Akram Hospital Complex, Department of Neurosurgery, Iran University of Medical Science, Tehran, - - 2014
Spine involvement is less common in Reiter's syndrome than in other seronegative spondyloarthropathies. Also, cervical spine involvement rarely occurs in Reiter's syndrome and other spondyloarthropathies. This paper reports a rare case of Reiter's syndrome in which there was cervical spine involvement that presented clinically as an atlanto-axial rotatory subluxation. Reiter's ...
Dotta Laura - - 2013
Recurrent or prolonged severe infections associated to panleukopenia strongly suggest primary immune disorders. In recent years, new immunodeficiency syndromes turned up: besides the importance of continuous clinical characterization throughout added reports, the phenotype can easily lead to diagnosis of known rare entities. Our purpose is to review main emerging genetic ...
Park Joongkyu J Department of Systems Biology, College of Life Science and Biotechnology, Yonsei University, Seoul 120-749, Korea. ; Program in Cellular Neuroscience, Neurodegeneration and Repair (CNNR), Department of Cellular and Molecular Physiology, Yale University School of Medicine, New Haven, CT 06510, - - 2013
Down syndrome (DS) is one of the most common genetic disorders accompanying with mental retardation, cognitive impairment, and deficits in learning and memory. The brains with DS also display many neuropathological features including alteration in neurogenesis and synaptogenesis and early onset of Alzheimer's disease (AD)-like symptoms. Triplication of all or ...
Gera D N DN Department of Nephrology and Clinical Transplantation, Lab Medicine and Immunohematology, Institute of Kidney Diseases and Research Center, Institute of Transplantation Sciences, Ahmedabad, Gujarat, - - 2013
Aortic dissection (AD) is a potentially life-threatening medical emergency usually encountered in the elderly. Here, we report a 9-year-old child who was incidentally detected to have asymptomatic chronic type B dissecting aneurysm of aorta when he presented with relapse of Hemolytic uremic syndrome (HUS) without any genetic abnormalities like Marfan ...
Hacohen Yael - - 2013
Autoantibodies to glial, myelin and neuronal antigens have been reported in a range of central demyelination syndromes and autoimmune encephalopathies in children, but there has not been a systematic evaluation across the range of central nervous system (CNS) autoantibodies in childhood-acquired demyelinating syndromes (ADS). Children under the age of 16 ...
Jedidi H - - 2013
Capgras delusion is characterized by the misidentification of people and by the delusional belief that the misidentified persons have been replaced by impostors, generally perceived as persecutors. Since little is known regarding the neural correlates of Capgras syndrome, the cerebral metabolic pattern of a patient with probable Alzheimer's disease (AD) ...
Igawa Satomi - - 2013
Atopic dermatitis (AD), Netherton syndrome (NS) and peeling skin syndrome type B (PSS) may show some clinical phenotypic overlap. Corneodesmosomes are crucial for maintaining stratum corneum integrity and the components' localization can be visualized by immunostaining tape-stripped corneocytes. In normal skin, they are detected at the cell periphery. To determine ...
Perricone Carlo - - 2013
Almost twenty five years ago the concept of "Mosaic of Autoimmunity" was introduced to the scientific community and since then it has continuously evolved adding new tesserae. We are looking now at an era in which the players of autoimmunity have changed names and roles. In this article collection on ...
Decourt Boris B Banner Sun Health Research Institute, Sun City AZ, - - 2013
Down syndrome is one of the most common genetic conditions occurring in one in 700 live births. The trisomy of chromosome 21 causes over-expression of APP which in turn is indicated in the increased production of Aβ associated with AD. This makes DS the most common presenile form of AD ...
Lela Ivana Vukovic - - 2013
Munchausen syndrome is afactitious disorder with predominantly physicalsigns and symptoms, resulting from thepatient's high motivation for assuming asick role, without any external incentives orboundaries. We report the case of a young femalepatient with factitious proteinuria in thenephrotic range and a fairly eventful medicalhistory. After performing many expensive andunnecessary investigations and ...
Lingaraju Naresh - - 2013
Osteogenesis imperfecta is a collagen related disorder characterized by increased bone fragility and low bone mass. The important oral finding in osteogenesis imperfect is the presence of dentinogenesis imperfecta. This article presents a case of osteogenesis imperfecta (type IV B) with dentinogenesis imperfecta where a 7-year-old girl had opalacent primary ...
Karakaya Tarik - - 2013
Mild cognitive impairment (MCI) is a syndrome which, depending on various neurobiological, psychological and social factors, carries a high risk of developing into dementia. As far as diagnostic uncertainty and the heterogeneous underlying pathophysiological mechanisms are concerned, only limited therapeutic options are currently available. Clinical trials involving a wide range ...
Bello Olivia O Department of Biology, Agnes Scott College Decatur, GA, - - 2013
Memantine is a low-affinity, voltage-dependent, non-competitive N-methyl-D-aspartate (NMDA) receptor antagonist. It is classified as a neuroprotective aminoadamantane. It does not cure or reverse Alzheimer's but it does effectively treat symptoms, slows the progression of the disease and allows many patients to perform daily cognitive activities with clear thoughts. Based on ...
Lam Benjamin B Sunnybrook Health Sciences Centre, 2075 Bayview Avenue, Toronto, ON, Canada M4N - - 2013
With increasing knowledge of clinical in vivo biomarkers and the pathological intricacies of Alzheimer's disease (AD), nosology is evolving. Harmonized consensus criteria that emphasize prototypic illness continue to develop to achieve diagnostic clarity for treatment decisions and clinical trials. However, it is clear that AD is clinically heterogeneous in presentation ...
Royall Donald R - - 2012
Neurodegenerative diseases are associated with neuronal inclusions, comprised of protein aggregates. In Alzheimer's Disease (AD) and Lewy Body Disease (LBD) such lesions are distributed in a hierarchical retrograde transynaptic spatial pattern. This implies a retrograde transynaptic temporal propagation as well. There can be few explanations for this other than infectious ...
Puel Anne A Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U980 and University Paris Descartes, Necker Medical School, Paris Sorbonne Cité, Paris, - - 2012
Chronic mucocutaneous candidiasis (CMC) is characterized by recurrent or persistent symptomatic infection of the nails, skin and mucosae mostly by Candida albicans. CMC is common in patients with profound primary T-cell immunodeficiency, who often display multiple infectious and autoimmune diseases. Patients with syndromic CMC, including autosomal dominant hyper IgE syndrome ...
Duker Andrew P AP Department of Neurology, University of Cincinnati, Cincinnati, OH 45267-0525, USA. - - 2012
The correlation of clinical presentation to pathology in dementia syndromes is important to correctly classify and ultimately treat these conditions. However, despite careful clinical characterization, it remains difficult to accurately predict an underlying causative pathology in some cases. Alzheimer disease is a well-defined clinical entity having established diagnostic criteria and ...
Kirshner Howard S - - 2012
Primary progressive aphasia (PPA) has been recognized as a syndrome distinct from the usual pattern of language deterioration in Alzheimer's disease and typically more related to the pathology of frontotemporal dementia (FTD). In recent years, however, the syndromes of primary progressive aphasia have become more complex, divided into the three ...
Warren Jason D JD Dementia Research Centre, Institute of Neurology, University College London, London, UK. - - 2012
Variant syndromes of Alzheimer disease (AD), led by deficits that extend beyond memory dysfunction, are of considerable clinical and neurobiological importance. Such syndromes present major challenges for both diagnosis and monitoring of disease, and serve to illustrate the apparent paradox of a clinically diverse group of disorders underpinned by a ...
Chen Chih-Ping - - 2012
Down syndrome is one of the most frequent chromosomal disorders, with a prevalence of approximately 1/500 to 1/800, depending on the maternal age distribution of the pregnant population. However, few reliable protein biomarkers have been used in the diagnosis of this disease. Recent progress in quantitative proteomics has offered opportunities ...
Schneider Susanne A - - 2012
In parallel to recent developments of genetic techniques, understanding of the syndromes of neurodegeneration with brain iron accumulation has grown considerably. The acknowledged clinical spectrum continues to broaden, with age-dependent presentations being recognized. Postmortem brain examination of genetically confirmed cases has demonstrated Lewy bodies and/or tangles in some forms, bridging ...
Cherniack E Paul - - 2012
Today, tens of millions of elderly individuals worldwide suffer from dementia. While the pathogenesis of dementia is complex and incompletely understood, it may be, at least to a certain extent, the consequence of systemic vascular pathology. The metabolic syndrome and its individual components induce a proinflammatory state that damages blood ...
Accardi Giulia - - 2012
Abstract Alzheimer disease (AD) and metabolic syndrome are two highly prevalent pathological conditions of Western society due to incorrect diet, lifestyle, and vascular risk factors. Recent data have suggested metabolic syndrome as an independent risk factor for AD and pre-AD syndrome. Furthermore, biological plausibility for this relationship has been framed ...
Heywood Wendy W Clinical & Molecular Genetics Unit, UCL Institute of Child Health, University College London, - - 2012
Using ProteinChip Technology (SELDI TOF MS), the maternal plasma of 53 chromosomally-normal control and 28 Down's syndrome affected pregnancies was profiled between 10 and 20 weeks' gestation. Preliminary studies demonstrated two distinct phases of changes in protein expression, the first at 10-14 weeks and second at 14-20 weeks. Using this ...
Shi Yichen Y Gurdon Institute, Department of Biochemistry, University of Cambridge, Tennis Court Road, Cambridge CB2 1QN, - - 2012
Human cellular models of Alzheimer's disease (AD) pathogenesis would enable the investigation of candidate pathogenic mechanisms in AD and the testing and developing of new therapeutic strategies. We report the development of AD pathologies in cortical neurons generated from human induced pluripotent stem (iPS) cells derived from patients with Down ...
Meda Shashwath A - - 2012
[This corrects the article on p. e31913 in vol. 7.].
Reed-Cossairt Arlene - - 2012
Down syndrome (DS) individuals are at high risk for developing Alzheimer's disease (AD) and consequently provide a unique opportunity to examine the factors leading to the onset of AD. This paper focuses on the neglected vascular parallels between AD and DS that can readily be examined in DS. Several recent ...
Coppedè Fabio - - 2012
Hutchinson-Gilford progeria syndrome and Werner syndrome are two of the best characterized human progeroid diseases with clinical features mimicking physiological aging at an early age. Both disorders have been the focus of intense research in recent years since they might provide insights into the pathology of normal human aging. The ...
Maamar Mouna - - 2012
Churg Strauss syndrome is a rare systemic and pulmonary vasculitis exceptionally associated with AA amyloidosis. We report the case of a 65-year old woman with past medical history of asthma. She developed polyarthralgia, headache and purpura. A laboratory workout found hypereosinophilia (1150/µL), positive p-ANCA, microscopic haematuria and proteinuria at 2g/day. ...
Sekijima Yoshiki - - 2011
The amyloidoses are a large group of postsecretory protein misfolding and deposition diseases. There are over 20 secreted human proteins whose misfolding and misassembly outside the cell is linked to amyloidosis. In this paper, we described epidemiological and clinical aspects of non-hereditary systemic amyloidosis, including senile systemic amyloidosis (SSA) and ...
Ola B A - - 2011
Brain fag is an indigenous psychopathology or culture-bound syndrome formally documented in Nigeria in the 1960's by Raymond Prince. The need for a factorial examination of the scale to ensure factorial validity and also to examine the reliability of this screening scale. Two hundred thirty four (234) participants with ages ...
Lin Amy - - 2011
Patients in burn intensive care units suffer from potentially life-threatening conditions including thermal or chemical burns and Stevens-Johnson syndrome/toxic epidermal necrolysis. There is often involvement of the ocular surface or adnexal structures which may be present at the time of hospital admission or may develop later in the hospital course. ...
Dubois-Marshall S - - 2011
A 25-year-old man presented to the Emergency department in a rural South African hospital after a left, submental neck stab with a knife. Examination was deemed unremarkable, and the patient was discharged, but re-attended 2 days later complaining of a painful, swollen neck. Further examination identified Horner's syndrome, and further ...
Tanaka Michiko - - 2011
BACKGROUND: Two patients presented large-angle esotropia due to unilatelal Duane syndrome type I. CASES: We report the course of a simple muscle transposition procedure (the Nishida procedure) with medial rectus muscle recession for large-angle esotropia in two cases of unilateral Duane syndrome type I. OBSERVATIONS: Case 1: A 5-year-old boy ...
Koucheki Behrooz - - 2011
PURPOSE: To report a case of pigmentary glaucoma (PG) accompanied by Usher syndrome. DESIGN: Case report. METHODS: The results were presented after standard ocular examination, visual field test, anterior segment and fundus photography, electroretinography, and otolaryngology consultation were conducted. RESULTS: Typical retinitis pigmentosa, flat electroretinography, congenital sensorineural hearing loss, high ...
Bozbuga Mustafa - - 2011
Craniopharyngiomas usually involve the sella and suprasellar space. Ectopic craniopharyngiomas have rarely been reported at the cerebellopontine angle (CPA). We report a rare primary craniopharyngioma of the CPA without extension into the sellar region. The lesion was initially detected by MRI during investigation of multiple scalp fibromas. Multiple osteomas of ...
Klasser Gary D - - 2011
Burning mouth syndrome is an enigmatic condition that can be difficult to recognize and diagnose. Dental practitioners must be able to distinguish between primary (essential or idiopathic) and secondary burning mouth syndrome. The primary form is characterized by a burning sensation in the oral mucosa and perioral areas, typically with ...
Mulz Jennifer M - - 2010
This report describes the case of an 11-year-old castrated male Shih Tzu who developed chylothorax three years following implantation of a transvenous pacemaker. Imaging demonstrated one definitive obstruction in the cranial vena cava and 3 additional suspected filling abnormalities within both external jugular veins, brachiocephalic veins and cranial vena cava. ...
Abreu Velez Ana Maria - - 2010
The skin plays a critical role in the detection of internal malignances. Cutaneous signs of these disorders afford clinicians opportunities for early diagnosis and treatment. We aim to succinctly review the recognition, diagnosis, and treatment of selected cutaneous paraneoplastic diseases. Skin disorders that may be associated with paraneoplastic syndromes include: ...
Choh Naseer A - - 2010
Polysplenia, or left isomerism, is a rare heterotaxy syndrome characterized by bilateral bi-lobed lungs, bilateral pulmonary atria, a symmetrical midline liver, and multiple aberrant splenic nodules. We report a case of polysplenia associated with congenital lobar emphysema apart from other typical anomalies. Such an association has not been previously reported. ...
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