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Graus Francesc F Neuroimmunology Program, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona, - - 2014
Paraneoplastic neurological syndromes (PNS) rarely associate with Hodgkin lymphoma (HL) and non-Hodgkin lymphomas (NHL). Except for paraneoplastic cerebellar degeneration (PCD) in HL and dermato/ polymyositis in both HL and NHL, other PNS are uncommon and have only been reported as isolated case reports or short series. There are several important ...
Jones David D University of Vermont, Department of Obstetrics, Gynecology and Reproductive Sciences, 111 Colchester Ave, Burlington, VT - - 2014
We describe a first trimester ultrasound in which the findings of fetal encephalocele and cystic appearance of the kidneys raised the suspicion of Meckel-Gruber Syndrome (MKS). On the basis of the sonographic findings, the patient elected termination of pregnancy, and post-termination studies using next generation sequencing of a gene panel ...
Mancuso Andrea A Medicina Interna 1, Azienda di Rilievo Nazionale ad Alta Specializzazione Civico - Di Cristina - Benfratelli, Piazzale Liotti 4, 90100, Palermo, Italy; Epatologia e Gastroenterologia, Ospedale Niguarda Cà Granda, Piazza Ospedale Maggiore 3, 20162, Milano, - - 2014
I read with interest the paper on TIPS for Budd-Chiari Syndrome (BCS) reporting a wide experience in China (1) which confirms the excellent outcome reported in previous experiences in the West (2, 3). In fact, the role of TIPS is alternative to and should prevent Liver transplant (LT) as treatment ...
Li Si-Ming SM Graduate School, Beijing University of Chinese Medicine, Beijing, 100029, - - 2014
Pattern identification (PI), also called Bian Zheng (), syndrome differentiation, pattern diagnosis, or pattern classification, is the basic principle and the key concept of Chinese medicine (CM). The core of PI is CM syndrome, on which CM theory, therapeutic method, prescribing formula and the use of Chinese herbal medicine are ...
Gopalan Narendran N National Institute for Research in Tuberculosis, 1, Mayor Sathyamoorthy Road, Chetpet, Chennai 600 031, - - 2014
Tuberculosis-immune reconstitution inflammatory syndrome (TB-IRIS) is an exaggerated, dysregulated immune response against dead or viable antigens of Mycobacterium tuberculosis that frequently occurs after initiation of antiretroviral therapy despite an effective suppression of HIV viremia. Scientific advances in IRIS pathogenesis have led researchers and clinicians to postulate risk factors that could ...
Hitchins Megan P MP Department of Medicine, Stanford Cancer Institute, Stanford University, Stanford, California, - - 2014
Lynch syndrome, defined as the autosomal dominant predisposition to colorectal, endometrial and additional cancers due to heterozygous germline mutations within the mismatch repair genes MLH1, MSH2, MSH6 and PMS2, was the first hereditary cancer syndrome to be recognized. It has probably also been the most intensively studied high-risk cancer syndrome ...
Karpati Sarolta S Department of Dermatology, Venereology and Dermato-oncology, Semmelweis University, Budapest, - - 2014
The paper in this issue by Has and co-workers reports 15 non-Herlitz epidermolysis bullosa patients with the same single amino-acid substitution in collagen XVII, all of whom presented with clinical and pathological features resembling Kindler syndrome. Here we consider why and how a hemidesmosomal pathology can mimic a focal adhesion ...
Shi Min M From the Department of Pathology, UMass Memorial Medical Center, Worcester, - - 2014
Context.-Hematopathology is a dynamic field that has always been on the frontier of clinical research within the scope of pathology. Several recent developments in hematopathology will likely affect its practice clinically. Objective.-To review 5 important recent advances in hematopathology: (1) detection and prognostic implication of MYC in diffuse large B-cell ...
Nomani Ali Zohair AZ Department of Medicine, Khan Research Laboratories (KRL) Hospital, - - 2014
Paraneoplastic syndromes are most often diagnosed in the setting of a known malignancy. It is not uncommon for a paraneoplastic disorder to develop before a cancer is identified. While syndrome of cerebellar degeneration has been identified as a paraneoplastic manifestation of Hodgkin's lymphoma, thymoma, lung and breast cancer, ovarian and ...
Chhetri S K SK Neurology Department, Royal Preston Hospital, Lancashire Teaching Hospitals NHS Foundation Trust, , Preston, - - 2014
Ataxia is a common neurological syndrome resulting from cerebellar, vestibular or sensory disorders. The recognition and characterisation of sensory ataxia remains a challenge. Cerebellar ataxia is the more common and easier to identify; sensory ataxia is often mistaken for cerebellar ataxia, leading to diagnostic errors and delays. A coherent aetiological ...
Speeckaert Reinhart R Department of Dermatology, Ghent University Hospital, Gent, - - 2014
Hyperpigmentation is a key feature in a variety of inherited and acquired syndromes. Nonetheless, determining the exact diagnosis only on the clinical phenotype can be challenging and a detailed search for associated symptoms is often of crucial importance. As pigmentation pathways are regulated by complex signaling transduction cascades (e.g. MSH/cAMP, ...
Stenager Egon E MS-Clinic of Southern Jutland, (Sønderborg, Vejle, Esbjerg), Department of Neurology, Sønderborg, Denmark & University of Southern Denmark, - - 2014
Foville's syndrome, a neurological brainstem syndrome, was described in France in 1858. By chance, a talented portrait painter, CA Jensen, probably illustrated the syndrome at the same time in Copenhagen. This note illustrates the importance of observation in both neurology and art and the variety in interpretation of the same ...
Cavanna Andrea E AE Department of Neuropsychiatry, BSMHFT and University of Birmingham, Birmingham, - - 2014
Selective sound sensitivity syndrome or misophonia is a chronic condition characterized by unpleasant emotional experiences and autonomic arousal in response to specific sounds. Over the last few years there have been a few reports detailing the clinical features associated with this condition. These focused reports raise interesting questions about the ...
McDermott David H DH Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United - - 2014
WHIM syndrome is a rare immunodeficiency disorder caused by gain-of-function mutations in the G protein-coupled chemokine receptor CXCR4. The CXCR4 antagonist plerixafor, which is FDA-approved for stem cell mobilization in cancer and administered for that indication at 0.24 mg/kg, has been shown in short-term (1-2 week) Phase 1 dose escalation ...
Cozzolino Mario M Department of Health Sciences, Renal Division and Laboratory of Experimental Nephrology, San Paolo Hospital, University of Milan, Milan, - - 2014
The concept of chronic kidney disease-mineral bone disorder (CKD-MBD) does not appear to fulfil the requirements for a syndrome at first glance, but its definition has brought some clear-cut benefits for clinicians and patients, including wider and more complex diagnostic and therapeutic approaches to the management of this challenging set ...
Mehta Zenobia B ZB Faculty of Life Sciences, University of Manchester, The Michael Smith Building, Oxford Road, Manchester, M13 9PT, - - 2014
Phosphoinositide lipids play a key role in cellular physiology, participating in a wide array of cellular processes. Consequently, mutation of phosphoinositide-metabolizing enzymes is responsible for a growing number of diseases in humans. Two related disorders, Oculocerebrorenal syndrome of Lowe (OCRL) and Dent-2 disease, are caused by mutation of the inositol ...
Zhang Yong-Zhen YZ State Key Laboratory for Infectious Disease Prevention and Control, Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases, National Institute for Communicable Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Beijing, China. Electronic address: - - 2014
Hantaviruses are among the most important zoonotic pathogens of humans, causing either hemorrhagic fever with renal syndrome (HFRS) or hantavirus pulmonary syndrome (HPS). From the period 1964-2006 almost all hantaviruses had been identified in rodents, with the exception of Thottapalayam virus (TPMV) isolated from shrews sampled in India. As a ...
Vial Flavie - - 2014
We evaluated Swiss slaughterhouse data for integration in a national syndromic surveillance system for the early detection of emerging diseases in production animals. We analysed meat inspection data for cattle, pigs and small ruminants slaughtered between 2007 and 2012 (including emergency slaughters of sick/injured animals); investigating patterns in the number ...
Ziemann A A Department of International Health, CAPHRI School of Public Health and Primary Care, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, The - - 2014
SUMMARY We developed a syndromic surveillance (SyS) concept using emergency dispatch, ambulance and emergency-department data from different European countries. Based on an inventory of sub-national emergency data availability in 12 countries, we propose framework definitions for specific syndromes and a SyS system design. We tested the concept by retrospectively applying ...
De Bandt Michel M Service de Rhumatologie, Hôpital Pierre Zobda Quitman, CHU de la Martinique, route de Chateauboeuf, CS 90632, 97261 Fort-de-France, Martinique. Electronic address: - - 2014
The diagnostic and therapeutic strategies for polymyalgia rheumatica (PMR) have changed substantially in recent years. Rather than a single disease entity, PMR has emerged as a syndrome produced by a variety of conditions. The diagnostic criteria that have been used for several decades are inadequate. These facts support a new ...
Jarius S S Molecular Neuroimmunology, Department of Neurology, University of Heidelberg, Heidelberg, - - 2014
The term 'neuromyelitis optica' ('Devic's syndrome', NMO) refers to a syndrome characterized by optic neuritis and myelitis. In recent years, the condition has raised enormous interest among scientists and clinical neurologists, fueled by the detection of a specific serum IgG reactivity (NMO-IgG) in up to 80% of patients with NMO. ...
Lachman Ralph S RS International Skeletal Dysplasia Registry, Cedars-Sinai Medical Center/University of California, Los Angeles, Los Angeles, CA, USA, - - 2014
Mucopolysaccharidosis IVA (MPS IVA, or Morquio A syndrome) and VI (MPS VI, or Maroteaux-Lamy syndrome) are autosomal recessive lysosomal storage disorders. Skeletal abnormalities are common initial presenting symptoms and, when recognized early, may facilitate timely diagnosis and intervention, leading to improved patient outcomes. Patients with slowly progressing disease and nonclassic ...
Aledort Stewart L - - 2014
Abstract This paper explores the role of excitement in shame, extending the theoretical underpinnings of my work (Aledort, 2002, 2003, 2008, 2009) on narcissism and the omnipotent child syndrome. Shame, excitement, and early narcissistic self-states are complexly intermingled, each influencing the other. Empathy alone is insufficient; the passion connected to ...
Doumas Stergios S Maxillofacial Unit, Queen Victoria Hospital NHS Foundation Trust, West Sussex, United Kingdom. Electronic address: - - 2014
Cryoglobulins are immunoglobulins that precipitate in vitro at temperatures <37°C but that redissolve if heated; they are broadly divided into 3 classes. Cryoglobulinemia has a plethora of clinical manifestations, but it typically presents a vasculitic syndrome, most notably a triad of purpura, arthralgia, and weakness secondary to cryoglobulin deposition in ...
Gorman Daniel A DA Daniel A. Gorman, MD, FRCPC, Department of Psychiatry, University of Toronto and The Hospital for Sick Children, Toronto; Elia Abi-Jaoude, MSc, MD, FRCPC, Department of Psychiatry, University of Toronto and University Health Network (Toronto Western Hospital), Toronto, - - 2014
The aetiology of Tourette syndrome is highly complex and still poorly understood. In this issue, using data from a large, prospective, population-based cohort of children, Mathews et al examine associations of pre- and perinatal exposures with Tourette syndrome and other chronic tic disorders. Their work illustrates the importance of environmental ...
Gupta Pratyush P Department of Orthopaedics, All India Institute of Medical Sciences, New Delhi, - - 2014
Weismann-Netter-Stuhl syndrome is a rarely reported cause of bowed legs; hence a thorough clinical and radiological examination is needed for its diagnosis. In view of the paucity of reports guiding the treatment of the deformity, we propose a one-level/two-level osteotomy with intramedullary nail fixation as a treatment modality for the ...
Basehore Monica J MJ Greenwood Genetic Center, Greenwood, South - - 2014
The gene responsible for Fragile X syndrome, fragile X mental retardation-1 (FMR1), contains an unstable sequence of CGG trinucleotide repeats in its promoter region. Expansions of >200 trinucleotide repeats are considered full mutations and typically lead to abnormal methylation of the region, resulting in loss of FMR1 expression. Males with ...
Winer J B JB Queen Elizabeth Hospital, B15 2TH Birmingham, - - 2014
Guillain-Barré syndrome (GBS) was first described in 1916 (Guillain G, 1916) and is approaching its 100th anniversary. Our knowledge of the syndrome has hugely expanded since that time. Once originally considered to be only demyelinating in pathology we now recognise both axonal and demyelinating subtypes. Numerous triggering or antecedent events ...
Morales Alvaro A Queen's University, Kingston, Ontario. Electronic address: - - 2013
To review the controversial issues of the Testosterone Deficiency Syndrome (TDS) with an emphasis on the concerns about the diagnosis. The relevant literature was reviewed with particular attention to matters related to the clinical manifestations of the syndrome, the need for biochemical assessment and questions of biological and analytical variation ...
De Vos Jurriaan M - - 2013
One of the most common trends in plant evolution, loss of self-incompatibility and ensuing increases in selfing, is generally assumed to be associated with a suite of phenotypic changes, notably a reduction of floral size, termed the selfing syndrome. We investigate whether floral morphological traits indeed decrease in a deterministic ...
Volkmar Fred R FR Child Study Center, Yale University, New Haven, CT 06520; email: - - 2013
Seven decades have elapsed since Leo Kanner described the syndrome he termed early infantile autism. Over this time, and particularly over the past two decades, noteworthy changes have occurred in how the condition is conceptualized. Here we provide an overview of these changes, beginning with a brief discussion of the ...
Forest Félix - - 2013
Background and AimsAdaptation to different pollinators has been hypothesized as one of the main factors promoting the formation of new species in the Cape region of South Africa. Other researchers favour alternative causes such as shifts in edaphic preferences. Using a phylogenetic framework and taking into consideration the biogeographical scenario ...
Roberts Jessica - - 2013
In this report, we describe an 8-year-old male with Robin sequence, bilateral radiohumeral synostosis, microgastria, cryptorchidism, dislocated hips, proximal femoral deficiency, and an autism spectrum disorder. This combination of findings has not been previously reported. Features of particular interest are the radiohumeral synostosis and microgastria, both of which are rare ...
Castellano José M - - 2013
Marfan syndrome is a multisystem connective tissue disorder, with primary involvement of the cardiovascular, ocular, and skeletal systems. This autosomal heritable disease is mainly attributable to a defect in the FBN1 gene. Clinical diagnosis of Marfan syndrome has been based on the Ghent criteria since 1996. In 2010, these criteria ...
Döcker Dennis - - 2013
SATB2 is an evolutionarily highly conserved chromatin remodeling gene located on chromosome 2q33.1. Vertebrate animal models have shown that Satb2 has a crucial role in craniofacial patterning and osteoblast differentiation, as well as in determining the fates of neuronal projections in the developing neocortex. In humans, chromosomal translocations and deletions ...
Vallejo Oscar Girón - - 2013
The human disorganization syndrome (HDS) is an extremely rare malformation syndrome that presents with a severe pattern of defects affecting different structures. We describe a newborn girl presenting with HDS. Her clinical features included a large appendage arising from the right buttock as the only alteration, with size and shape ...
Stubert Johannes - - 2013
Objective: Syndrome of hemolysis, elevated liver enzymes and low platelets (HELLP) represents a distinct subgroup of severe preeclampsia. The aim of our study was to identify differentially expressed miRNAs in sera of patients with HELLP syndrome in comparison to unaffected controls. Study design: Blood samples were obtained from patients with ...
Chaudhary Adeel G AG Faculty of Medical Sciences, King Abdulaziz University, Jeddah, Kingdom of Saudi - - 2014
Fragile X syndrome, the most common form of inherited intellectual disability, is caused by expansion of CGG trinucleotide repeat at the 5' untranslated region of the FMR1 gene at Xq27. In affected individuals, the CGG repeat expansion leads to hypermethylation and the gene is transcriptionally inactive. Our aim was to ...
Aguiar Cassyanne L CL Hospital for Special Surgery, Weill Medical College of Cornell University, 535 East 70th Street, New York, NY 10021, - - 2013
Antiphospholipid syndrome (APS) is a multisystem autoimmune condition characterized by vascular thromboses and/or pregnancy loss associated with persistently positive antiphospholipid antibodies (aPL). Catastrophic APS (CAPS) is the most severe form of APS with multiple organ involvement developing over a short period of time, usually associated with microthrombosis. 'Definite' and 'probable' ...
Kashevarova Anna A - - 2013
The use of array comparative genomic hybridization (array CGH) as a diagnostic tool in molecular genetics has facilitated the identification of many new microdeletion/microduplication syndromes (MMSs). Furthermore, this method has allowed for the identification of copy number variations (CNVs) whose pathogenic role has yet to be uncovered. Here, we report ...
Kraudzun Tobias - - 2013
In the Eastern Pamirs extensive livestock herding is the predominant land use option and dwarf shrubs - teresken (Krascheninnikovia ceratoides) and to a lesser extent wormwood (Artemisia spp.) - are an important source of thermal energy and are crucial forage plants, particularly in winter. For the post-Soviet period, many papers ...
Johnson Simon C SC Department of Pathology, University of Washington, Seattle, WA 98195, - - 2013
Mitochondrial dysfunction contributes to numerous health problems, including neurological and muscular degeneration, cardiomyopathies, cancer, diabetes, and pathologies of aging. Severe mitochondrial defects can result in childhood disorders such as Leigh syndrome, for which there are no effective therapies. We found that rapamycin, a specific inhibitor of the mechanistic target of ...
Mashar Meghavi M Downing College, Cambridge, - - 2013
The Brugada syndrome is a rare but well-defined cause of sudden cardiac death. The key underlying abnormality is a decrease in net depolarising current due to a genetic defect, though recent evidence also implicates structural abnormalities in some patients. Diagnosis requires a Brugada-type ECG as well as typical clinical features: ...
Baroncini Anna - - 2013
A novel multiple congenital anomalies syndrome has been recently identified in four patients carrying a 8q12 microduplication sharing the smallest region of overlap (SRO, size 1.6 Mb) including five genes CA8, ASPH, RAB2B, CLVS1 and CDH7. The phenotype is mainly characterized by neurodevelopmental delay, heart defects, facial features and Type ...
Neri Giovanni - - 2013
The ensuing paper by Professor Giovanni Neri and colleagues was originally published in 1984, American Journal of Medical Genetics 19:195-207. The original article described a new family with a condition that the authors designated as the Perlman syndrome. This disorder, while uncommon, is an important multiple congenital anomaly and dysplasia ...
Neri G - - 2013
The following paper by Professor Giovanni Neri and colleagues was originally published in 1988, American Journal of Medical Genetics 30:287-299. This paper represented a seminal work at the time of publication as it not only reported a new family with a disorder that had been called the "gigantism-dysplasia syndrome", but ...
Browning John C JC The University of Texas Health Science Center at San Antonio, San Antonio, - - 2013
Aplasia cutis congenita (ACC) refers to any condition in which there is absence of skin at birth. This can be isolated ACC occurring on the scalp, with or without underlying ectopic neural tissue, or ACC can be associated with other conditions such as Adams-Oliver syndrome or epidermolysis bullosa. We discuss ...
Molho-Pessach Vered - - 2013
H syndrome is an autosomal recessive genodermatosis with multisystem involvement caused by mutations in SLC29A3. We sought to investigate the clinical and molecular findings in 79 patients with this disorder. A total of 79 patients were included, of which 13 are newly reported cases. Because of the phenotypic similarity and ...
Genaro Natalia R - - 2013
Brugada phenocopies (BrP) are clinical entities that are etiologically distinct from true congenital Brugada syndrome (BrS). BrP are characterized by type 1 or type 2 Brugada electrocardiogram (ECG) patterns in precordial leads V1 -V3 ; however, BrP are elicited by various underlying clinical conditions such as electrolyte disturbances, myocardial ischemia, ...
Plata Bello Julio - - 2013
POEMS syndrome (an acronym of polyneuropathy, organomegaly, endocrinopathy, multiple myeloma and skin changes) is a paraneoplastic disorder related to an underlying plasma cell dyscrasia. The development of such a syndrome is rare and its association with calvarial plasmocytoma is even less common, with only two previous reported cases. We describe, ...
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