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Nistal Manuel M a Hospital La Paz, Universidad Autónoma de Madrid, - - 2014
Abstract Congenital anomalies of the epididymis are frequent. Their understanding requires familiarity with their embryological origins. They are important given their impact on fertility.
Kutteh William H WH aDivision of Reproductive Endocrinology, Vanderbilt University Medical Center bCenter for the Study of Recurrent Pregnancy Loss, Fertility Associates of Memphis, Memphis, Tennessee, - - 2014
To review the recent diagnostic criteria, clinical implications, and therapeutic protocols for antiphospholipid antibody syndrome (APS). Much has been learned in the recent years concerning the diagnosis of and clinical implications associated with the APS. A number of studies demonstrate some pathophysiologic mechanisms that suggest the impact of antiphospholipid antibodies ...
Dimachkie Mazen M MM Neuromuscular Section, Neurophysiology Division, Department of Neurology, University of Kansas Medical Center, 3901 Rainbow Boulevard, Mail Stop 2012, Kansas City, KS 66160, USA. Electronic address: - - 2014
In this article, distal myopathy syndromes are discussed. A discussion of the more traditional distal myopathies is followed by discussion of the myofibrillar myopathies. Other clinically and genetically distinctive distal myopathy syndromes usually based on single or smaller family cohorts are reviewed. Other neuromuscular disorders that are important to recognize ...
Müller Michael M *Center for Nanoscale Microscopy and Molecular Physiology of the Brain (CNMPB), Zentrum Physiologie und Pathophysiologie, Institut für Neuro- und Sinnesphysiologie, Georg-August-Universität Göttingen, Universitätsmedizin, Humboldtallee 23, D-37073 Göttingen, - - 2014
RTT (Rett syndrome) is a severe progressive neurodevelopmental disorder with a monogenetic cause, but complex and multifaceted clinical appearance. Compelling evidence suggests that mitochondrial alterations and aberrant redox homoeostasis result in oxidative challenge. Yet, compared with other severe neuropathologies, RTT is not associated with marked neurodegeneration, but rather a chemical ...
Gondek Lukasz P LP Department of Oncology, Division of Hematological Malignancies, Johns Hopkins University, 1650 Orleans St, CRB1-290, Baltimore, MD, 21231, USA, - - 2014
Myelodysplastic syndromes (MDS) are clonal hematopoietic stem cell disorders characterized by peripheral cytopenias and ineffective hematopoiesis. MDS is an example of an age-related malignancy and its increasing prevalence and incidence can be attributed to a greater life expectancy in developed countries. Although frequently encountered in hematology/oncology clinics, MDS may constitute ...
Wakerley Benjamin R BR Department of Neurology, Gloucestershire Royal Hospital, Great Western Road, Gloucester GL1 3NN, - - 2014
Guillain-Barré syndrome (GBS) and its variant, Miller Fisher syndrome (MFS), exist as several clinical subtypes with different neurological features and presentations. Although the typical clinical features of GBS and MFS are well recognized, current classification systems do not comprehensively describe the full spectrum of either syndrome. In this Perspectives article, ...
Braat Sien S Department of Medical Genetics, University of Antwerp, Antwerp, Belgium. Electronic address: - - 2014
An increasing number of studies implicate the GABAAergic system in the pathophysiology of the fragile X syndrome, a frequent cause of intellectual disability and autism. Animal models have proven invaluable in unravelling the molecular mechanisms underlying the disorder. Multiple defects in this inhibitory system have been identified in Fmr1 knockout ...
Hülsbrink Robert R Institut für Biochemie, Friedrich-Alexander-Universität Erlang en-Nürnberg, Fahrstrasse 17, 91054 Erlangen, - - 2014
Lambert-Eaton myasthenic syndrome (LEMS) describes a rare human autoimmune disorder of the neuromuscular junction (NMJ). Clinically, LEMS patients suffer from characteristic muscle weakness that is caused by the presence of antibodies directed against their voltage-gated calcium channels (VGCC). These channels are localized in the presynaptic membrane of their motor nerve ...
Song Jae-Kwan JK Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea. Electronic address: - - 2014
Acute aortic syndrome is a relatively recent clinical entity. Non-invasive imaging methods, such as computed tomography and transesophageal echocardiography, have contributed significantly to the diagnosis of variant forms of classic aortic dissection, which have become important disease entities in acute aortic syndrome. Imaging findings may result in risk stratification and ...
de Leon Maurizio Ponz MP Dipartimento di Medicina Diagnostica, Clinica e Sanità Pubblica, Università di Modena e Reggio Emilia, Italy. Electronic address: - - 2014
In recent years we assisted to a real "boom" of colorectal polyps, mainly due to the diffusion of screening procedures and of colonoscopy. This new "Polyp Epidemic" raises a series of problems and challenges. It became clear that many syndromes are defined by the number, histological type and location of ...
Raaijmakers Marc H G P MH Department of Hematology, Erasmus MC Cancer Institute, and Erasmus Stem Cell Institute, Faculty Building Rm Ee-1393, dr. Molewaterplein 50, 3015GE, Rotterdam, The Netherlands. Electronic address: - - 2014
Early events driving the initiation and evolution of neoplasms remain poorly defined but involvement of an instructive or permissive niche has been implicated. In this issue of Cell Stem Cell, Medyouf et al. (2014) provide insights into the role of the niche in myelodysplastic syndromes, the principle preleukemic disorder of the ...
Sampson Matthew G MG Division of Nephrology, Department of Pediatrics and Communicable Diseases, University of Michigan Medical School, 8220D MSRB III, West Medical Center Drive, Ann Arbor, MI, 48109, USA, - - 2014
Nephrotic syndrome (NS) is a clinical condition with a high degree of morbidity and mortality, caused by failure of the glomerular filtration barrier, resulting in massive proteinuria. Our current diagnostic, prognostic and therapeutic decisions in NS are largely based upon clinical or histological patterns such as "focal segmental glomerulosclerosis" or ...
Matsangas Panagiotis - - 2014
In 1976, Graybiel and Knepton proposed the term "sopite syndrome" to describe a symptom complex centering on drowsiness and lethargy related to motion sickness. However, existing descriptions and definitions of sopite syndrome have limitations in fully conveying the appropriate information to the reader. Our objective is to propose a revised ...
Song Su Jung SJ Cancer Research Institute, Beth Israel Deaconess Cancer Center, Department of Medicine and Pathology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, - - 2014
This review highlights recent insights into the roles of microRNAs (miRNAs) in pathogenesis of myeloid malignancies and tantalising prospects of miRNA therapy. New roles for miRNAs in biological and disease processes are constantly being discovered. Although great effort has been put into identifying and cataloguing aberrantly expressed miRNAs in leukaemia, ...
Nijs Jan J Jan Nijs, Mark La Meir, Cardiothoracic Surgery, University Hospital, 1090 Brussels, - - 2014
Aortic size index (ASI) has been proposed as a reliable criterion to predict risk for aortic dissection in Turner syndrome with significant thresholds of 20-25 mm/m(2). We report a case of aortic arch dissection in a patient with Turner syndrome who, from the ASI thresholds proposed, was deemed to be ...
Macé Camille C Glomerular Disease Therapeutics Laboratory, University of Alabama at Birmingham, Birmingham, - - 2014
Nephrotic syndrome is recognized by the presence of proteinuria in excess of 3.5 g/24 h along with hypoalbuminemia, edema, hyperlipidemia (hypertriglyceridemia and hypercholesterolemia), and lipiduria. Each component has been investigated individually over the past four decades with some success. Studies published recently have started unraveling the molecular basis of proteinuria ...
Yagihashi Tatsuhiko T Department of Child Psychiatry, Komagino Hospital, Tokyo, Japan; Center for Medical Genetics, Keio University School of Medicine, Tokyo, - - 2014
To reveal the relation between intellectual disability and the deleted intervals in Williams syndrome, we performed an array comparative genomic hybridization analysis and standardized developmental testing for 11 patients diagnosed as having Williams syndrome based on fluorescent in situ hybridization testing. One patient had a large 4.2-Mb deletion spanning distally ...
Jovic Thomas H TH University of Cambridge, Cambridge, - - 2014
The presence of a branchial fistula with communication both internally and externally: a 'true' branchial fistula is rare, and may arise in the context of autosomal dominant conditions such as branchiootic syndrome and branchiootorenal syndrome. We discuss the case of a true branchial fistula, which recurred after initial surgical excision, ...
Kadereit Gudrun G Institut für Allgemeine und Spezielle Botanik und Botanischer Garten der Johannes Gutenberg-Universität Mainz, D-55099 Mainz, - - 2014
Broad-scale phylogenetic studies give first insights in numbers, relationships, and ages of C4 lineages. They are, however, generally limited to a model that treats the evolution of the complex C4 syndrome in different lineages as a directly comparable process. Here, we use a resolved and well-sampled phylogenetic tree of Camphorosmeae, ...
Hofer Johannes J Department of Pediatrics I, Innsbruck Medical University, Innsbruck, - - 2014
The presence of circulating autoantibodies, primarily to complement factor H antibodies (CFH-Abs) in plasma characterizes the autoimmune form of atypical hemolytic uremic syndrome (aHUS). This acquired form of aHUS defines a distinct subgroup of aHUS patients, which requires diagnostic and treatment approaches in part different from those of the genetically ...
Mačkić-Đurović Mirela M Center for genetics, Faculty of Medicine, University of Sarajevo, Čekaluša 90, 71 000 Sarajevo, Bosnia and - - 2014
The goal of this study was to examine the effectiveness of 6 STR markers application (D21S1435, D21S11, D21S1270, D21S1411, D21S226 and IFNAR) in molecular genetic diagnostics of Down syndrome (DS) and to compare it with cytogenetic method. Testing was performed on 73 children, with the previously cytogenetically confirmed Down syndrome. ...
Wortmann Saskia B SB Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders (NCMD), Amalia Children's Hospital, Radboud University Medical Centre, 9101, 6500 HB, Nijmegen, The Netherlands, - - 2014
Currently, six inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature are known. The "Primary 3-methylglutaconic aciduria," 3-methylglutaconyl-CoA hydratase deficiency or AUH defect, is a disorder of leucine catabolism. For all other subtypes, also denoted "Secondary 3-methylglutaconic acidurias" (TAZ defect or Barth syndrome, SERAC1 defect or MEGDEL syndrome, OPA3 ...
Sakai Yasunari - - 2014
2q37 deletion syndrome is a rare congenital disorder that is characterized by facial dysmorphism, obesity, vascular and skeletal malformations, and a variable degree of intellectual disability. To date, common but variable phenotypes, such as skeletal or digit malformations and obesity, have been associated with the deleted size or affected genes ...
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 ...
Ebara Shigeyuki S Department of Internal Medicine, Kobe Tokushukai - - 2014
We report a case of Western type hairy cell leukemia (HCL), a very rare leukemia in Japan. In this malignancy, leukemic cells in a peripheral blood film may be missed due in part to accompanying pancytopenia and in part to loss of typical cytoplasmic projections if prepared in a conventional ...
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 ...
Lapunzina Pablo P Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain . ; Instituto de Genética Médica y Molecular, Hospital Universitario la Paz, Madrid, Spain - - 2014
The increased speed and decreasing cost of sequencing, along with an understanding of the clinical relevance of emerging information for patient management, has led to an explosion of potential applications in healthcare. Currently, SNP arrays and Next-Generation Sequencing (NGS) technologies are relatively new techniques used to scan genomes for gains ...
Mockenhaupt Maja M Department of Dermatology, Medical Center-University of Freiburg, Germany. Email: - - 2014
Severe cutaneous adverse reactions are associated with significant morbidity and mortality. They may be life-threatening for the affected patient and difficult to treat. Such conditions include toxic epidermal necrolysis (TEN), Stevens-Johnson syndrome (SJS), acute generalized exanthematous pustulosis and drug reaction with eosinophilia and systemic symptoms. Due to the fact that ...
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 ...
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