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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 ...
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 ...
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 ...
Hammad Tariq A - - 2013
Primary angiitis of the central nervous system (PACNS) is one of the most devastating pathologic processes that affect the central nervous system (CNS). It results in exclusive inflammation and destruction of CNS blood vessels. Progressive debilitating unexplained neurological deficit associated with abnormal cerebrospinal fluid (CSF) analysis findings is the typical ...
Miller Kerry A - - 2013
Cilia are architecturally complex organelles that protrude from the cell membrane and have signalling, sensory and motility functions that are central to normal tissue development and homeostasis. There are two broad categories of cilia; motile and non-motile, or primary, cilia. The central role of primary cilia in health and disease ...
Wang Guo-Qiang - - 2013
Sjogren's syndrome can involve the central nervous system; however, spontaneous intracranial hemorrhage has rarely been reported as the initial manifestation. We report a 39-year-old woman with primary Sjogren's syndrome presenting with intracranial hemorrhage. The diagnosis of primary Sjogren's syndrome was based on the presence of ocular dryness, salivary gland secretory ...
Okamoto Noriko - - 2013
Williams-Beuren syndrome (WBS) is a multisystemic genetic disorder caused by a contiguous gene deletion at 7q11.23. We report a severely affected WBS patient with cerebral and cerebellar dysplasia as well as hypertrophic cardiomyopathy. Microarray comparative genomic hybridization (aCGH) detected a deletion on 7q11.23 expanding from RP11-614D7 to RP11-137E8, which is ...
Trivedi Dipti - - 2013
Proteus syndrome is a disorder of patchy, or mosaic, postnatal overgrowth. Mosaic somatic mutation of the AKT1 gene has been identified in over 90% of individuals meeting the diagnostic criteria for Proteus syndrome. Onset occurs in infancy and can involve any tissue of the body. The connective tissue and bone, ...
Verpelli Chiara - - 2013
Intellectual disability syndromes have been found associated to numerous mutated genes that code for proteins functionally involved in synapse formation, the regulation of dendritic spine morphology, the regulation of the synaptic cytoskeleton or the synthesis and degradation of specific synapse proteins. These studies have strongly demonstrated that even mild alterations ...
Singh Sandeep K SK Department of Cell Biology, Duke University Medical Center, Durham, NC 27710, - - 2013
Autism is a common and heritable neuropsychiatric disorder that can be categorized into two types: syndromic and nonsyndromic, the former of which are associated with other neurological disorders or syndromes. Molecular and functional links between syndromic and nonsyndromic autism genes were lacking until studies aimed at understanding the role of ...
Webster R G RG Neurosciences Group, Nuffield Dept. of Clinical Neurosciences, University of Oxford, Oxford, - - 2013
In the slow channel congenital myasthenic syndrome mutations in genes encoding the muscle acetylcholine receptor give rise to prolonged ion channel activations. The resulting cation overload in the postsynaptic region leads to damage of synaptic structures, impaired neuromuscular transmission and fatigable muscle weakness. Previously we identified and characterised in detail ...
Lu Lu - - 2013
Middle East respiratory syndrome coronavirus (MERS-CoV), a novel human coronavirus that caused outbreaks of a SARS-like illness in the Middle East, is now considered a threat to global public health. This review discusses the challenges in identifying the source of this fatal virus and developing effective and safe anti-MERS-CoV vaccines ...
Stefanaki Kalliopi - - 2013
There are several genetic syndromes that predispose to the development of tumors of the nervous system. In the present study, we provide a review of the tumors that are associated with neurofibromatosis type 1, neurofibromatosis type 2, tuberous sclerosis complex, von Hippel-Lindau disease, Li-Fraumeni syndrome, Cowden disease, Turcot syndrome, nevoid ...
Soufras G D - - 2013
Anaphylactic shock is a real and life threatening medical emergency which is encountered in every field of medicine. The coronary arteries seem to be the primary target of anaphylaxis resulting in the development of Kounis syndrome. Kounis syndrome is a pan-arterial anaphylaxis -associated syndrome affecting patients of any age, involving ...
Swarr Daniel T - - 2013
The megalencephaly-capillary malformation (MCAP) syndrome is a rare disorder characterized by prenatal overgrowth, somatic and cerebral asymmetry, cutaneous vascular malformations, and connective tissues abnormalities.(1) The central nervous system (CNS) and cutaneous manifestations dominate the clinical picture during postnatal life. Structural cardiac, pulmonary, and lymphatic abnormalities are not commonly seen, although ...
Pedroso José Luiz - - 2013
Autosomal recessive cerebellar ataxias are a heterogeneous group of neurological disorders. In 1981, a neurological entity comprised by early onset progressive cerebellar ataxia, dysarthria, pyramidal weakness of the limbs and retained or increased upper limb reflexes and knee jerks was described. This disorder is known as early onset cerebellar ataxia ...
Fallon Sara C - - 2013
Management of pediatric patients with pheochromocytomas associated with genetic syndromes, such as Von Hippel-Lindau (VHL) disease, is complex owing to the need for continuous surveillance, high rates of recurrence, multiple operations during childhood, and the possibility of lifelong exogenous steroid replacement. We report the successful treatment of two siblings with ...
Park Seunglee - - 2013
The intrathecal chemotherapy with methotrexate and cytarabine arabinoside is used for the treatment and prophylaxis of the primary central nervous system lymphoma. The therapy may induce neurotoxicity including the cauda equina syndrome. We report a case of a 58-year-old man with the diffuse large B-cell lymphoma, who developed the cauda ...
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