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Derecki Noël C NC Department of Neuroscience and Center for Brain Immunology and Glia (BIG), School of Medicine, University of Virginia, Charlottesville, VA, 22908, USA, - - 2014
Microglia, the tissue-resident macrophages of the brain, are attracting increasing attention as key players in brain homeostasis from development through aging. Recent works have highlighted new and unexpected roles for these once-enigmatic cells in both healthy central nervous system function and in diverse pathologies long thought to be primarily the ...
Moreira Isabel I Neurology Department, Hospital Santo António, Centro Hospitalar do Porto, Largo Prof. Abel Salazar, 4099-001, Porto, Portugal, - - 2014
Primary Sjögren syndrome (pSS) is a systemic autoimmune disease characterized by lymphocytic infiltration of the salivary and tear glands, and autoantibody secretion, in the absence of other systemic autoimmune disorder. Among autoimmune diseases, it is a relatively common disease, but the burden of central nervous system (CNS) involvement is controversial. ...
Tai Chao C Department of Pharmacology, University of Washington, Seattle, WA 98195; - - 2014
Haploinsufficiency of the voltage-gated sodium channel NaV1.1 causes Dravet syndrome, an intractable developmental epilepsy syndrome with seizure onset in the first year of life. Specific heterozygous deletion of NaV1.1 in forebrain GABAergic-inhibitory neurons is sufficient to cause all the manifestations of Dravet syndrome in mice, but the physiological roles of ...
Adedeji Adeyemi O AO Veterinary Medical Teaching Hospital, School of Veterinary Medicine, University of California, Davis, CA 95616, United States. Electronic address: - - 2014
Coronaviruses are positive stranded RNA viruses that cause respiratory, enteric and central nervous system diseases in many species, including humans. Until recently, the relatively low burden of disease in humans caused by few of these viruses impeded the development of coronavirus specific therapeutics. However, the emergence of severe acute respiratory ...
Pacheco Adalberto - - 2014
Chronic cough or cough that lasts more than 8 weeks, once a chest x-ray and spirometry are confirmed normal, is caused by an alteration in a section of the route between peripheral receptors, mainly in the upper and lower airway and oesophagus, spinal cord and the cough centre in the ...
Castro Jorge J Department of Brain and Cognitive Sciences, Picower Institute for Learning and Memory, Massachusetts Institute of Technology, Cambridge, MA 02139; - - 2014
Rett Syndrome is a neurodevelopmental disorder that arises from mutations in the X-linked gene methyl-CpG binding protein 2 (MeCP2). MeCP2 has a large number of targets and a wide range of functions, suggesting the hypothesis that functional signaling mechanisms upstream of synaptic and circuit maturation may contribute to our understanding ...
Castrioto Anna A Grenoble University Hospital, Psychiatry and Neurology Dept., Grenoble, France; Grenoble Institute of Neuroscience, INSERM-UJF-CEA U836, Grenoble, - - 2014
Postural abnormalities such as postural deviations affect nearly all patients with advanced Parkinson's disease and represent an important source of disability. Although their existence has long been known, their management remains a challenge as they respond poorly to medication, brain surgery, or physiotherapy. Improving management strategies will require better understanding ...
Yasukawa Kosuke K Section of Infectious Diseases, Department of Medicine, Baylor College of Medicine, Houston, Texas; Department of Molecular Virology and Microbiology, Baylor College of Medicine, Houston, Texas; Department of Pathology and Immunology, Baylor College of Medicine, Houston, Texas; National School of Tropical Medicine, Baylor College of Medicine, Houston, Texas - - 2014
As a result of global migration, a significant number of people with Trypanosoma cruzi infection now live in the United States, Canada, many countries in Europe, and other non-endemic countries. Trypanosoma cruzi meningoencephalitis is a rare cause of ring-enhancing lesions in patients with acquired immunodeficiency syndrome (AIDS) that can closely ...
Cong Yingying Y Department of Preventive Veterinary Medicine, College of Veterinary Medicine, Northeast Agricultural University, Harbin, - - 2014
Most coronaviruses cause respiratory or intestinal infections in their animal or human host. Hence, their interaction with polarized epithelial cells plays a critical role in the onset and outcome of infection. In this paper, we review the knowledge regarding the entry and release of coronaviruses, with particular emphasis on the ...
Schlaich Markus M Neurovascular Hypertension and Kidney Disease and Human Neurotransmitters Laboratories, Baker IDI Heart and Diabetes Institute, Melbourne, VIC, Australia; Department of Cardiovascular Medicine, Alfred Hospital, Melbourne, VIC, Australia; Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, VIC, Australia. Electronic address: - - 2014
Metabolic syndrome is associated with adverse health outcomes and is a growing problem worldwide. Although efforts to harmonise the definition of metabolic syndrome have helped to better understand the prevalence and the adverse outcomes associated with the disorder on a global scale, the mechanisms underpinning the metabolic changes that define ...
Sivaswamy Lalitha - - 2014
Ataxia refers to motor incoordination that is usually most prominent during movement or when a child is attempting to maintain a sitting posture. The first part of the review focuses on the anatomic localization of ataxia - both within the nervous system and without - using a combination of historical ...
Forsythe J J - - 2014
Hung JA, Rajeev P. Streptococcal toxic shock syndrome following total thyroidectomy. Ann R Coll Surg Engl 2013; 95: 457-460 doi 10.1308/003588413X13629960048118.
Naik Karkal Ravishankar KR Department of Neurology, KLES' Dr Prabhakar Kore Hospital and Medical Research Centres, Belgaum, Karnataka, India ; Department of Neurology, KLE University's Jawaharlal Nehru Medical College, Belgaum, Karnataka, - - 2014
Areflexia is one of the cardinal clinical features for the diagnosis of Guillain Barré syndrome. However, some patients may have sluggish proximal muscle stretch reflexes. Presence of thumb reflex, a distal stretch muscle reflex has not been documented in Guillain Barré syndrome. We prospectively evaluated thumb reflex in Guillain Barré ...
Loiseau Camille C Sorbonne Universités, UPMC Univ Paris 06, UMR_S 1158, Neurophysiologie Respiratoire Expérimentale et Clinique, F-75005, Paris, France; INSERM, UMR_S 1158, Neurophysiologie Respiratoire Expérimentale et Clinique, F-75005, Paris, - - 2014
Central Congenital Hypoventilation Syndrome is a neuro-respiratory disease characterized by the dysfunction of the CO2/H(+) chemosensitive neurons of the retrotrapezoid nucleus/parafacial respiratory group. A recovery of CO2/H(+) chemosensitivity has been observed in some Central Congenital Hypoventilation Syndrome patients coincidental with contraceptive treatment by a potent progestin, desogestrel (Straus et al., ...
Petazzi Paolo P Cancer Epigenetics and Biology Program (PEBC), Bellvitge Biomedical Research Institute (IDIBELL), 08908L'Hospitalet, Barcelona, Catalonia, - - 2014
Epigenetic mechanisms are fundamental for shaping the activity of the central nervous system (CNS). Methyl-CpG binding protein 2 (MECP2) acts as a bridge between methylated DNA and transcriptional effectors responsible for differentiation programs in neurons. The importance of MECP2 dosage in CNS is evident in Rett Syndrome and MECP2 duplication ...
Minocha Rashi R Department of Dermatology, Westmead Hospital, Westmead, New South Wales, - - 2014
A 47-year-old man presented with an acute, cutaneous eruption of exquisitely painful papules at the operative site 4 weeks after a right tibial osteotomy. Initially this was managed as a postoperative wound infection; however the exacerbation and spread of the cutaneous eruption prompted further investigation. Histopathology and clinical findings were ...
Xiang Y T YT Beijing Anding Hospital, Capital Medical University, Beijing, China / Department of Psychiatry, The Chinese University of Hong Kong, Shatin, Hong Kong SAR, - - 2014
The year 2013 marks the 10th anniversary of the outbreak of the severe acute respiratory syndrome (SARS). We present a comprehensive introduction to the current situation of surviving SARS victims in China where the disease originated and spread across the world 10 years ago.
Na Elisa S ES Department of Neuroscience, The University of Texas Southwestern Medical Center, Dallas, TX, - - 2014
Methyl-CpG-Binding Protein 2 (MeCP2) is a ubiquitously expressed transcriptional regulator with functional importance in the central nervous system. Loss of function mutations in MECP2 results in the neurodevelopmental disorder, Rett Syndrome, while increased expression levels are associated with the neurological disorder, MECP2 duplication syndrome. Previous characterization of a mouse line ...
Sagie Shira S Laboratory of Molecular Medicine, Rambam Health Care Campus and Rappaport Faculty of Medicine and Research Institute, Technion, Haifa 31096, - - 2014
Human telomeric regions are packaged as constitutive heterochromatin, characterized by extensive subtelomeric DNA methylation and specific histone modifications. ICF (Immunodeficiency, Centromeric instability, Facial anomalies) type I patients carry mutations in DNA methyltransferase 3B (DNMT3B) that methylates de novo repetitive sequences during early embryonic development. ICF type I patient-fibroblasts display hypomethylated ...
Tremlett Will W 1Department of Paediatrics, Ealing Hospital NHS Trust, London, Middlesex 2American Medical School of the - - 2014
We describe a case of recurrent toxic shock syndrome in a 15-year-old girl. The condition was initially associated with tampon use but recurred during menstruation after she had ceased to use tampons. The case suggests host susceptibility factors, including systemic antibody concentrations, are particularly significant in this disorder. The importance ...
Adrish Muhammad M Division of Pulmonary and Critical Care Medicine, Albert Einstein College of Medicine, Bronx Lebanon Hospital Center, Bronx, NY, - - 2014
Patient: Male, 42 Final Diagnosis: Gluteal compartment syndrome • acute peripheral nauropathy Symptoms: - Medication: - Clinical Procedure: - Specialty: Critical Care Medicine. Management of emergency care. Heroin addiction is common, with an estimated 3.7 million Americans reporting to have used it at some point in their lives. Complications of ...
Emmi Giacomo G Department of Experimental and Clinical Medicine, University of Florence, L.go G. Brambilla 3, 50134, Florence, Italy, - - 2014
Behçet syndrome is a systemic inflammatory disorder characterized by multiorgan involvement such as oral and genital ulcers, uveitis, skin lesions as well as by less frequent, but often more severe, central nervous system and vascular manifestations. The pathogenetic mechanisms are still incompletely known; however the interaction between a specific genetic ...
Peters Tess T Division of Dermatology, University of Calgary, Calgary, Alberta, - - 2014
Focal dermal hypoplasia (Goltz syndrome, Online Mendelian Inheritance in Man [OMIM] 305600) is a rare X-linked dominant congenital disorder involving defects of mesodermal- and ectodermal-derived structures. It is associated with mutations in the PORCN gene, a regulator of Wnt signaling proteins. The phenotype is highly variable, although all describe characteristic ...
Streifler Jonathan Y JY Department of Neurology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv and Neurology Unit, Hasharon Hospital, Rabin Medical Center, Petah Tikva, Israel. Electronic address: - - 2014
Connective tissue disorders are systemic, autoimmune, multiorgan diseases in which the central and peripheral nervous systems are frequently involved. The objective of this chapter is to describe the neurological manifestations of three of the most common systemic autoimmune disorders: systemic lupus erythematosus (SLE), scleroderma, and Sjögren's syndrome (SS). In SLE ...
Didelot Adrien A Centre de Référence, de Diagnostic et de Traitement des Syndromes Neurologiques Paranéoplasiques and INSERM U842, UMR-S842, Lyon, France. Electronic address: - - 2014
Paraneoplatic neurologic syndromes (PNS) have been seminally defined as acute or subacute neurological syndromes resulting from nervous system dysfunction that is remote from the site of a malignant neoplasm or its metastases. However, in respect to our current understanding of their pathogenesis we may redefine these disorders as cancer-related dysimmune ...
Saip Sabahattin S Department of Neurology, Cerrahpasa School of Medicine, Istanbul University, Istanbul, - - 2014
Behçet syndrome (BS) is an idiopathic chronic relapsing multisystem vascular-inflammatory disease of unknown origin. As the disease affects many organs and systems and shows a wide range of clinical manifestations and presentations, it is prefereable to call Behçet's a syndrome (BS) rather than a disease. Nervous system involvement, known as ...
Sharma Punit P Department of Nuclear Medicine, All India Institute of Medical Sciences, New Delhi 110029, - - 2014
Von Hippel-Lindau (VHL) syndrome is a rare neoplastic disorder characterized by central nervous system (CNS) and visceral tumors. We here present (68)Ga-labelled [1, 4, 7, 10-tetraazacyclododecane-1, 4, 7, 10-tetraacetic acid]-1-Nal3-Octreotide positron emission tomography computed tomography findings in a 52 year old female with VHL syndrome, demonstrating both CNS and visceral ...
Desai Soaham Dilip SD Department of Neurology, Shree Krishna Hospital and Pramukhswami Medical College, Karamsad, Gujarat, - - 2014
Garcia-Hafner-Happle syndrome, also known as Fibroblast growth factor receptor 3 epidermal nevus syndrome, is a new neurocutaneous phenotype, which has been identified in 2008 by Garc─▒'a-Vargas et al. The disorder is caused by a mosaic R248C mutation of the FGFR3 gene, which is characterized by a keratinocytic epidermal nevus, acanthosis ...
Lane Chris C Department of Neurology, Guys and St Thomas' Hospital, London, - - 2014
Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is a recently described central nervous system inflammatory condition. In this case report we describe a patient initially with features consistent with this syndrome, who represented with seizures (not previously reported in this syndrome) and corresponding prominent cortical involvement ...
Giorelli Maurizio M Operative Unit of Neurology, "Dimiccoli" General Hospital, Barletta, - - 2014
Posterior cortical atrophy is a clinical syndrome that is characterized by the progressive loss of visuospatial integration and is associated with neurodegenerative conditions. We describe a 60-year-old female with simultanagnosia, oculomotor apraxia, and optic ataxia for which she received an initial clinical diagnosis of posterior cortical atrophy. Three years later, ...
Basson M Albert MA Department of Craniofacial Development and Stem Cell Biology; King's College London; Guy's Hospital Tower Wing; London, - - 2014
CHARGE syndrome is a rare, autosomal dominant condition caused by mutations in the CHD7 gene. Although central nervous system defects have been reported, the detailed description and analysis of these anomalies in CHARGE syndrome patients lag far behind the description of other, more easily observed defects. We recently described cerebellar ...
Carroll Michael Sean MS 1Ann & Robert H. Lurie Children's Hospital of - - 2013
Congenital central hypoventilation syndrome is a neurodevelopmental disorder characterized by life-threatening hypoventilation, possibly resulting from disruption of central chemosensory integration. However, animal models suggest the possibility of residual chemosensory function in the human disease. Cardioventilatory function in a large cohort with congenital central hypoventilation syndrome and verified paired-like homeobox 2B ...
Hanzawa Fumie F Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, - - 2013
Mycoplasma pneumoniae is a common cause of respiratory tract illness in children. Among the most common extrapulmonary manifestations are disorders of the central nervous system, including meningitis, meningoencephalitis, cerebellitis, polyneuropathy, acute disseminated encephalomyelitis, and Guillain-Barré syndrome. Guillain-Barré syndrome, also known as acute inflammatory demyelinating polyradiculoneuropathy, is an acute-onset, immune-mediated disorder ...
Barker Amy R - - 2013
The ciliopathies are a group of related inherited diseases characterized by malformations in organ development. The diseases affect multiple organ systems, with kidney, skeleton, and brain malformations frequently observed. Research over the last decade has revealed that these diseases are due to defects in primary cilia, essential sensory organelles found ...
Barbagallo Ignazio - - 2013
Molecular chaperones and the heat shock response play a major role in the maintenance of cellular homeostasis under various pathological conditions. In particular, their role is to regulate protein conformation, protect proteins from misfolding and aggregation, and maintain signalling and organellarnetworks. Among variousheat shock proteins, Hsp32 also known as heme ...
Pignolet Béatrice Sl BS INSERM-UMR1043; Toulouse, France ; CNRS, U5282; Toulouse, France ; Universite de Toulouse; UPS; Centre de Physiopathologie Toulouse Purpan (CPTP); Toulouse, France ; CHU Toulouse Purpan; Toulouse, - - 2013
Paraneoplastic neurological disorders (PNDs) are syndromes that develop in cancer patients when an efficient antitumor immune response, directed against antigens expressed by both malignant cells and healthy neurons, damages the nervous system. Herein, we analyze existing data on the mechanisms of loss of self tolerance and nervous tissue damage that ...
Janowska Marta M Department of Dermatology, Jagiellonian University Medical College, Krakow, Poland. Head of Department: Prof. Anna Wojas-Pelc MD, - - 2013
Parry-Romberg syndrome or progressive facial hemiatrophy was first described by Caleb Parry in 1825 and Moritz Romberg in 1846. This disorder is characterized by slowly progressing acquired unilateral hemifacial atrophy, which affects subcutaneous tissue together with the muscles and underlying bones. The pathogenesis and precise incidence of the syndrome remain ...
Ganos Christos C Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, United Kingdom; Department of Neurology, University Medical Centre Hamburg-Eppendorf (UKE), Hamburg, Germany; Department of Paediatric and Adult Movement Disorders and Neuropsychiatry, Institute of Neurogenetics, University of Lübeck, Lübeck, Germany. Electronic address: - - 2013
Dystonia with anarthria and/or aphonia is a rare syndromic association. Here we present two cases with slowly progressive, severe generalized dystonia and aphonia, slow horizontal saccades, epilepsy and photic myoclonus. Detailed clinical data were collected over two decades in the female (index) patient and for nine years in her similarly ...
Gupta Sarthak - - 2013
Reversible cerebral vasoconstriction syndrome (RCVS) is Raynaud's phenomenon of the brain. Changes in neurological function are dependent upon which areas of the brain are deprived of normal blood flow. Antiphospholipid antibody syndrome (APLA) is a common cause of Raynaud's phenomenon that can occur anywhere in the body, including the brain. ...
Souza W M - - 2013
Hantavirus (Family Bunyaviridae) are mostly associated to rodents and transmitted to man by inhalation of aerosolized infected excreta of these animals. The human infection by hantaviruses can lead to severe diseases such as hemorrhagic fever with renal syndrome (HFRS) in Asia and Europe, and pulmonary syndrome (HPS) in the Americas. ...
Ranger Adrianna M - - 2013
Most cancers of the central nervous system (CNS) occur sporadically in the absence of any known underlying familial disorder or multi-systemic syndrome. Several syndromes are associated with CNS malignancies, however, and their recognition has significant implications for patient management and prognosis. Patients with syndrome-associated CNS malignancies often have multiple tumours ...
Larsen Timothy R - - 2013
Interactions between the heart and kidneys have been labeled as the cardiorenal syndrome (CRS). Type-5 CRS describes a disease that simultaneously damages both organs. With severe infection, systemic inflammatory mediators (TNF-α and IL-1β) cause wide-spread endothelial dysfunction, cellular apoptosis, and depressed organ function. Impaired myocardial function promotes worsening renal function ...
Smit Michael A - - 2013
In Colorado, USA, diagnoses coded as toxic shock syndrome (TSS) constituted 27.3% of infectious shock cases during 1993-2006. The incidence of staphylococcal TSS did not change significantly overall or in female patients 10-49 years of age but increased for streptococcal TSS. TSS may be underrecognized among all ages and both ...
Troca-Marín Ja - - 2013
An increasing amount of evidence suggests that the dysregulation of the Akt-mTOR (Akt-mammalian Target Of Rapamycin) signaling network is associated with intellectual disabilities, such as fragile X, tuberous sclerosis and Rett's syndrome. The Akt-mTOR pathway is involved in dendrite morphogenesis and synaptic plasticity, and it has been shown to modulate ...
Valera Elvis Terci - - 2013
Mowat-Wilson syndrome (MWS) is a rare genetic condition where variable and multiple congenital anomalies including Hirschsprung's disease, intellectual disability, and prominent facial features are present. At molecular level, MWS is characterized by many different described mutations in the zinc finger E-box protein 2 (ZEB2) gene, ultimately leading to loss of ...
Aggarwal Sameer S Department of Medicine, PGIMS, Rohtak, Haryana, - - 2013
The association of multisystem pathologic conditions and epidermal nevi, known as the epidermal nevus syndrome, includes disorders of bone, central nervous system, eye, kidney, vasculature and skin. Rarely, congenital nevomelanocytic nevus also known as hairy nevus has also been reported in association with hypophosphatemic rickets. Studies suggest that phosphaturia, caused ...
Verma Rajesh R Department of Neurology, King George Medical University, Lucknow, Uttar Pradesh, - - 2013
Sjögren's syndrome is associated with central and peripheral nervous system involvement. The peripheral neuropathy is usually a sensory predominant neuropathy or a cranial neuropathy. Myelopathy is usually of focal, subacute, chronic or relapsing type. Acute myeloneuropathy as the predominant manifestation has not been described in the literature. We describe a ...
Thakur Shruti S Department of Radiodiagnosis, Indira Gandhi Medical College and Hospital, Shimla, Himachal Pradesh, - - 2013
Encephalocraniocutaneous lipomatosis (ECCL), also known as Haberland syndrome, is a rare syndrome with unknown etiology. The syndrome is characterized by a triad of unique cutaneous, ocular, and central nervous system (CNS) manifestations. The cutaneous hallmark, nevus psiloliparus (NP), along with overlying alopecia is a constant feature. Choristoma of the eyelid ...
Coia J E - - 2013
Infectious micro-organisms may be transmitted by a variety of routes, and some may be spread by more than one route. Respiratory and facial protection is required for those organisms that are usually transmitted via the droplet/airborne route, or when airborne particles have been artificially created, such as during 'aerosol-generating procedures'. ...
Aizenbud Dror - - 2013
Features of Goldenhar syndrome include several craniofacial anomalies of structures derived from the first and second pharyngeal arches, as well as vertebral, cardiac and renal systems abnormalities. In addition, Goldenhar patients were reported to manifest a variety of central nervous system anomalies and several types of neoplasias. The first case ...
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