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Yasudo H H Department of Pediatrics, Tokyo University Graduate School of Medicine, Tokyo, Japan - - 2014
We report the first case of a girl who presented with Papillon-Lefèvre syndrome (PLS) and subsequently developed systemic lupus erythematosus and liver cirrhosis. This indicates that autoimmune diseases can be a complication in patients with PLS. Cathepsin C gene mutations were not found in our patient or her mother. Thus, ...
Moore James N JN Department of Large Animal Medicine, College of Veterinary Medicine, University of Georgia, 501 DW Brooks Drive, Athens, GA 30602, USA; Department of Physiology and Pharmacology, College of Veterinary Medicine, University of Georgia, 501 DW Brooks Drive, Athens, GA 30602, USA. Electronic address: - - 2014
Some veterinarians describe particularly sick horses or neonatal foals as being endotoxemic, whereas others refer to the same animals as having the systemic inflammatory response syndrome. This article reviews the basis for the use of each of these terms in equine practice, and highlights the mechanisms underlying the response of ...
Brito-Zerón Pilar P Laboratory of Autoimmune Diseases Josep Font, CELLEX, Department of Autoimmune Diseases, ICMiD, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Hospital Clínic, Barcelona, - - 2014
Primary Sjögren syndrome is a systemic autoimmune disease whose clinical spectrum extends from sicca syndrome to systemic involvement (extraglandular manifestations). Recent reports have focused on expanding the clinical characterization and improving the diagnostic and therapeutic management of systemic Sjögren. The development of the EULAR-SS disease activity index represents a step ...
Basta Marten N MN From the *Division of Plastic Surgery, Perelman School of Medicine at the University of Pennsylvania; †Division of Plastic Surgery, Children's Hospital of Philadelphia, Philadelphia, PA; ‡Division of Plastic Surgery, Johns Hopkins Health System, Baltimore, MD; §Division of Plastic Surgery, Cooper University Hospital, Camden, NJ; ∥Department of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; ¶The Ohio State University College of Medicine; and #Section of Plastic and Reconstructive Surgery, Nationwide Children's Hospital, Columbus, - - 2014
Associated comorbidities can put syndromic patients with cleft palate at risk for poor speech outcomes. Reported rates of velopharyngeal insufficiency (VPI) vary from 8% to 64%, and need for secondary VPI surgery from 23% to 64%, with few studies providing long-term follow-up. The purpose of this study was to describe ...
Açikalin Arbil A Department of Pathology, Çukurova University, Faculty of Medicine, ADANA, - - 2014
Objective: We aimed to document the reasons of perinatal deaths in a large autopsy series performed in our institute, which is a reference center in the Çukurova region of Turkey. Material and Method: The study included 2150 autopsies performed between January 2000 and December 2012at our institute. Diagnoses were categorized ...
Brodsky Michael C MC Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota. Electronic address: - - 2014
We report the association of congenital mydriasis with prune belly syndrome and cerebrovascular anomalies in a 9-year-old boy who was found to have an ACTA2 mutation. This case illustrates the spectrum of systemic malformations that are attributable to mutations in ACTA2 and expands the spectrum of cerebrovascular anomalies that are ...
Helder Meghana R K MR Division of Cardiovascular Surgery, Mayo Clinic, Rochester, - - 2014
The study objective was to evaluate patients with Marfan syndrome and mitral valve regurgitation undergoing valve repair or replacement and to compare them with patients undergoing repair for myxomatous mitral valve disease. We reviewed the medical records of consecutive patients with Marfan syndrome treated surgically between March 17, 1960, and ...
Menor Almagro Raúl R Sección de Reumatología, Hospital de Jerez, Jerez de la Frontera, Cádiz, España. Electronic address: - - 2014
Transverse myelitis is a rare focal inflammation of the spinal cord. Multiple etiologies have been identified including autoimmune diseases, mainly systemic lupus erythematosus and Sjögren' syndrome. It can occur in an acute or subacute clinical onset, with the acute presentation having a worse prognosis. An early diagnosis and intensive treatment ...
Bejar Rafael R Moores Cancer Center, Division of Hematology and Oncology, University of California, San Diego, La Jolla, CA, USA - - 2014
Myelodysplastic syndromes are a collection of clonal hematopoietic disorders with a wide range of clinical manifestations and eventual outcomes. Accurate prediction of a patient's prognosis is useful to define the risk posed by the disease and which treatment options are most appropriate. Several models have been created to help predict ...
Massingham Lauren J LJ Mother Infant Research Institute and Department of Pediatrics, Floating Hospital for Children at Tufts Medical Center, Boston, MA, USA, - - 2014
Turner syndrome is a sex chromosome aneuploidy with characteristic malformations. Amniotic fluid, a complex biological material, could contribute to the understanding of Turner syndrome pathogenesis. In this pilot study, global gene expression analysis of cell-free RNA in amniotic fluid supernatant was utilized to identify specific genes/organ systems that may play ...
Jeanneret Christina C Division of Angiology, University Clinic of Internal Medicine Bruderholz, KSBL, 4101 Bruderholz, Switzerland - - 2014
Summary We give an overview on the current literature concerning compression in the prevention of postthrombotic syndrome, including our own investigations of the hemodynamic changes over time in female and male patients. We also describe the evaluation of a combined reflux-occlusion score to predict occurrence of new pigmentation (C4).
Ghorayeb Imad I Department of Clinical Neurophysiology, CHU de Bordeaux, Place Amélie Raba-Léon, 33076, Bordeaux, France, - - 2014
The purpose of the study was to evaluate the frequency of restless legs syndrome in 30 patients with multiple system atrophy. Eight patients complained from restless legs syndrome, their severity score was 19.4 ± 4.1. Pittsburgh Sleep Quality Index scores were significantly higher in patients with restless legs syndrome than those without ...
Yokogawa Naoto N From the Department of Rheumatic Diseases, Tokyo Metropolitan Tama Medical Center, Tokyo, Japan; Stead Family Department of Pediatrics, Division of Rheumatology, Carver College of Medicine, University of Iowa, Iowa City, Iowa; Department of Dermatology, Division of Dermatopathology, and Division of Rheumatology, University of Pennsylvania, Philadelphia, Pennsylvania; Division of Rheumatology, Nationwide Children's Hospital and Department of Pediatrics, Ohio State University College of Medicine, Columbus, Ohio; Division of Anatomic Pathology, and the Division of Rheumatology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, - - 2014
To determine an appropriate focus score cutoff for childhood Sjögren syndrome (SS). Labial salivary gland tissue from specimens from children with SS and age-matched controls was retrospectively identified and reviewed by a blinded oral pathologist. The presence of any focal sialadenitis (focus score > 0 foci/4 mm(2)) was common among ...
Bian Zhao-Xiang ZX School of Chinese Medicine, Hong Kong Baptist University, HKSAR, China, - - 2014
Syndrome differentiation is a key feature of Chinese medicine (CM) system. With CM receiving more and more attention from the mainstream medical systems, researchers from both traditional medical systems and the Western medical system are putting more effort into studying why and how the CM system works, particularly about CM ...
Desai Sheetal - - 2014
The skin is one of the target organs most commonly affected in lupus erythematosus (LE) and a wide range of cutaneous changes have been described in LE patients. Papulonodular mucinosis (PNM) in particular is an uncommon cutaneous manifestation of LE. We discuss the case of a 26-year-old Senegalese woman with ...
Weitz Ilene Ceil IC Associate Clinical Professor of Medicine, Jane Anne Nohl Division of Hematology, Keck- USC School of Medicine, Los Angeles, CA , United States. Electronic address: - - 2014
The complement system is important part of our innate immune system and interacts directly with the hemostatic system. Disorders of complement activation or dysregulation resulting in excess complement generation, such as Paroxysmal Nocturnal Hemoglobinuria (PNH), atypical Hemolytic uremic Syndrome (aHUS) and antiphospholipid syndrome (APLS) have been associated with significant thrombophilia. ...
Nelson Lisa - - 2014
Abstract Studies of individuals with Cornelia de Lange syndrome (CdLS) have described changes in mood and behavior with age, although no empirical or longitudinal studies have been conducted. Caregivers of individuals with CdLS (N  =  67), cri du chat syndrome (CdCS; N  =  42), and Fragile X syndrome (FXS; N ...
Fardet Laurence L AP-HP, Hôpital Saint Antoine, service de Médecine Interne, Paris, F-75012, France; UPMC Univ Paris 06, Faculté de Médecine Pierre et Marie Curie, Paris, F-75012, - - 2014
Background: Because there are no specific clinical, biological or histological features, reactive hemophagocytic syndrome may be difficult to distinguish from other diseases such as severe sepsis or hematological malignancies. The aim of this study was to develop and validate a diagnostic score for reactive hemophagocytic syndrome. Methods: A multicenter retrospective ...
Pinal-Fernandez Iago I Internal Medicine Department, Vall d´Hebron General Hospital, Universidad Autonoma de Barcelona, Barcelona, Spain. - - 2014
Interstitial lung disease is a common finding in patients with the antisynthetase syndrome. High-resolution computed tomography is the reference test for diagnosis and follow-up of this condition, but it involves considerable radiation exposure. Our aim was to describe chest ultrasound features and its correlation with high-resolution computed tomography findings in ...
Raevens Sarah S Department of Gastroenterology and Hepatology, Ghent University Hospital, Ghent, - - 2014
Hepatopulmonary syndrome is a complication of chronic liver disease resulting in increased morbidity and mortality. It is caused by intrapulmonary vascular dilations and arteriovenous connections with devastating influence on gas exchange. The pathogenesis is not completely understood but evidence mounts for angiogenesis. Aims of this study were to identify angiogenic ...
Wimmer Katharina K Division of Human Genetics, Medical University Innsbruck, Innsbruck, - - 2014
Constitutional mismatch repair deficiency (CMMRD) syndrome is a distinct childhood cancer predisposition syndrome that results from biallelic germline mutations in one of the four MMR genes, MLH1, MSH2, MSH6 or PMS2. The tumour spectrum is very broad, including mainly haematological, brain and intestinal tract tumours. Patients show a variety of ...
Zhao Qian Q Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Medical Center, Washington, DC, United States. Electronic address: - - 2014
Down syndrome, the most common single cause of human birth defects, produces alterations in physical growth and mental retardation. If missed before birth, the early detection of Down syndrome is crucial for the management of patients and disease. However, the diagnostic accuracy for pediatricians prior to cytogenetic results is moderate ...
Duarte Fernando Barroso FB Universidade Federal do Ceará (UFC), Fortaleza, CE, - - 2014
At the time of diagnosis, more than 50% of patients with myelodysplastic syndrome have a normal karyotype and are classified as having a favorable prognosis. However, these patients often show very variable clinical outcomes. Furthermore, current diagnostic tools lack the ability to look at genetic factors beyond karyotyping in order ...
Babusiaux D D CHRU, Hôpital Trousseau, Chirurgie Orthopédique et Traumatologique 1, 37044 Tours cedex 1, - - 2014
Electroneuromyography (ENMG) is the gold standard examination in cubital tunnel syndrome (CuTS), but sheds no light on etiology. High-resolution ultrasound (HRU) analyzes the anatomic abnormalities and physical properties of the ulnar nerve (UN) and enables dynamic study. The present non-randomized prospective study compared HRU with clinical, ENMG and intraoperative findings. ...
Criscov Geanina Irina - - 2014
Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by auto antibodies directed against self-antigens, immune complex formation and immune deregulations and may affect joints, skin, kidneys, heart, lungs, nervous system, and immune system. The onset can be variable and the symptoms can occur for many years. Parotitis as the ...
Saft Leonie L Stockholm, - - 2014
International Prognostic Scoring System-defined Low- or Intermediate-1-risk (lower-risk) del(5q) myelodysplastic syndromes are considered to have an indolent course; however, recent data have identified a subgroup of patients with more aggressive disease and poorer outcomes. Using deep sequencing technology, we previously demonstrated that 18% of patients with lower-risk del(5q) myelodysplastic syndromes ...
Vilá Jesús J Department of Orthopaedic and Trauma Surgery, Hospital Universitario 12 de Octubre, Madrid, Spain. Electronic address: - - 2014
Posterior ankle impingement is a clinical syndrome characterized by posterior ankle pain that is mainly presented on plantar flexion. The aim of this study is to compare and evaluate the results of posterior ankle impingement treated by endoscopic hindfoot posterior portals. Between 2004 and 2009, a total of 38 endoscopic ...
Roberts Maegan E ME Genetic Counseling, GeneDx, Gaithersburg, Maryland, - - 2014
Purpose:The Muir-Torre syndrome variant of Lynch syndrome is characterized by the presence of sebaceous neoplasms (adenoma, epithelioma/sebaceoma, carcinoma) and Lynch syndrome-associated cancers (colon, endometrial, and others). Several clinical scoring systems have been developed to identify patients with colon cancer at high risk of Lynch syndrome. However, no such system has ...
Kokubo Kenichi K Department of Ocular Plastic & Orbital Surgery, Seirei Hamamatsu General Hospital, Hamamatsu, Japan. Electronic address: - - 2014
To describe surgical treatment of acquired Brown syndrome by trochlea reconstruction and trochlea adhesiotomy. The medical records of patients with acquired Brown syndrome who underwent intraoperative forced duction testing under direct view of the trochlea from 2010 to 2012 were retrospectively reviewed. In all cases, the site of restricted movement ...
Tamizifar Babak B Department of Internal Medicine, School of Medicine, Alzahra Hospital, Isfahan, - - 2014
Hemophagocytic syndrome (HPS) is an uncommon manifestation in systemic lupus erythematosus (SLE). Clinical features of HPS include fever, pancytopenia, abnormal liver enzyme, hepatosplenomegaly, lymphadenopathy, and coagulation disorder. HPS comprises primary and reactive forms. Herein, we describe a case of untreated SLE with HPS as one of the first manifestations of ...
Segarra Alfons - - 2014
Introduction: Recent studies suggest that soluble urokinase-type plasminogen activator receptor (suPAR) levels could be useful for distinguishing idiopathic focal segmental glomerulosclerosis (FSGS) from other glomerulopathies that cause nephrotic syndrome, but these data have not been confirmed in independent studies. The objective of our study is to analyse whether circulating levels ...
Rogers Heesun J HJ - - 2014
Acute myeloid leukemia and myelodysplastic syndrome with inv(3)(q21q26.2)/t(3;3)(q21;q26.2) have a poor prognosis. Indeed, the inv(3)(q21q26.2)/t(3;3)(q21;q26.2) has been recognized as a poor risk karyotype in the revised International Prognostic Scoring System. However, inv(3)(q21q26.2)/t(3;3)(q21;q26.2) is not among the cytogenetic abnormalities pathognomonic for diagnosis of acute myeloid leukemia irrespective of blast percentage in ...
Zhou Yong Y Department of Gynecology, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, PR - - 2014
Herlyn-Werner-Wunderlich syndrome (HWWS) is a müllerian duct anomaly typically associated with a uterus didelphys with two cervices and two vaginas, one of which is obstructed. A remarkable case of HWWS with contralateral duplex kidneys and duplication of ureters is described, which, to our knowledge, is a rarely reported variant to ...
Samoff Erika E North Carolina Preparedness and Emergency Response Research Center (Drs Waller and Samoff, Ms Fangman), NC Institute for Public Health, Gillings School of Global Public Health, University of North Carolina, Chapel Hill (Dr Samoff and Ms Fangman); and Carolina Center for Health Informatics, Department of Emergency Medicine, University of North Carolina Medical School (Drs Waller and - - 2014
Syndromic surveillance systems enhance public health practice in both large and small population settings. However, data from these systems are typically monitored by state and federal agencies and less frequently used by small public health agencies, such as local health departments (LHDs). Syndromic surveillance system modifications may facilitate use by ...
Caccamo Roberta - - 2014
Forty dogs presented for brachycephalic airway obstructive syndrome with laryngeal collapse not over 1st degree (saccule eversion) underwent glottis endoscopic and radiographic skull measurements before surgery. Fifteen Pugs, fifteen French and ten English Bulldogs were included. The goals were prospectively to compare three common brachycephalic breeds for anatomical differences regarding ...
Katsuyama Takayuki T Department of Medicine and Clinical Science, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, - - 2014
A 71-year-old woman presented with a high-grade fever, neck pain, anemia and thrombocytopenia. After performing further examinations, we concluded that she had simultaneously developed large vessel vasculitis and myelodysplastic syndrome (MDS). Although glucocorticoid administration improved her clinical symptoms, the MDS transformed into acute myeloid leukemia and she died one year ...
Sadiq Mahniya F MF Department of Radiology and Imaging Sciences, Emory University Hospital, Atlanta, GA, - - 2014
Klippel-Trénaunay syndrome (KTS) is a rare vascular congenital anomaly affecting less than 200,000 people in the United States. Vascular malformations associated with KTS tend to affect slow flow systems: venous, capillary, and lymphatic systems. The nature of the syndrome leads to a higher risk for the development of arteriovenous malformations. ...
Jung Chien-Cheng CC Department of Environmental and Occupational Health, College of Medicine, National Cheng Kung University, Tainan city, - - 2014
This study investigates whether indoor environmental quality (IEQ) influences allostatic load (AL) and whether AL can be a predictor for sick building syndrome (SBS). We also assessed and compared the associations between AL and SBS versus 8-hydroxydeoxyguanosine (8-OHdG) and SBS. A total of 115 office workers from 21 offices completed ...
Jones Stephen S Department of Surgery, Western Reserve Health Education, - - 2014
The diagnosis of acute appendicitis can be somewhat obscure in a patient that presents with right lower quadrant abdominal pain. The advancement and ease of imaging have made CT scanning readily available in the emergency department. Management can be challenging when the patient has a high likelihood of appendicitis based ...
Napoli Christian C National Centre for Epidemiology, Surveillance and Health Promotion, National Institute of Health (Istituto Superiore di Sanità, ISS), Viale Regina Elena, 299-00161 Rome, Italy. - - 2014
Profound geopolitical changes have impacted the southern and eastern Mediterranean since 2010 and defined a context of instability that is still affecting several countries today. Insecurity combined with the reduction of border controls has led to major population movements in the region and to migration surges from affected countries to ...
Goasguen Jean E JE University of Rennes, France. Electronic address: - - 2013
Studies of morphology of myelodysplastic syndromes (MDS) or acute myeloid leukemia (AML) refer to the definitions produced by the French-American-British (FAB) group and by the World Health Organization expert group. To clarify some points regarding the dysgranulopoiesis that are still unclear we analyzed a series of 98 neutrophils from MDS ...
Rubio-Gomez Gustavo A GA Section of Dermatology, Hospital for Sick Children, and University of Toronto, Toronto, Ontario, - - 2013
Collodion membrane in the neonate may be the initial presentation of a number of different conditions. There is a lack of data correlating the extent of clinical involvement to the underlying disease and prognosis. We sought to identify features predictive of the final outcome and complications in a cohort of ...
Peñacoba Toribio Patricia - - 2013
Shrinking lung syndrome (SLS) is a rare manifestation of systemic lupus erythematosus. We report the case of a patient with non-responding SLS (neither to glucocorticoids nor immunosupresors), who showed remarkable improvement after the onset of treatment with rituximab. Although there is a little evidence, treatment with rituximab could be proposed ...
Cheng Julianna J From the *University of British Columbia; †Division of Gastroenterology, Hepatology and Nutrition; ‡Department of Pediatrics; and §Division of Infectious Diseases, British Columbia Children's Hospital, Vancouver, British Columbia, - - 2013
Drug reaction with eosinophilia and systemic symptoms is a potentially life-threatening syndrome of medication hypersensitivity associated with a wide variety of triggers. Diagnosis can be challenging, as clinical features suggest other conditions. We describe a 12-year-old boy with typical drug reaction with eosinophilia and systemic symptoms syndrome after antituberculosis therapy.
Tajika Tsuyoshi - - 2013
Objectives- First, we investigated the accuracy of carpal tunnel syndrome diagnosis by comparing the cross-sectional area of the median nerve measured at the level of proximal inlet of the carpal tunnel with that measured at the level of the distal radioulnar joint on sonography. Second, we evaluated the correlation between ...
Lavorato Fernanda Guedes FG Rio de Janeiro State University, Pedro Ernesto University Hospital, Rio de JaneiroRJ, - - 2013
A 57-year-old woman presented with periorbital ecchymoses, laxity in skin folds, polyneuropathy and bilateral carpal tunnel syndrome. A skin biopsy of the axillary lesion demonstrated fragmentation of elastic fibers, but with a negative von Kossa stain, consistent with cutis laxa. The diagnosis of primary systemic amyloidosis was made by the ...
Sheikhzadeh S S Centre of Cardiology and Cardiovascular Surgery, Department of Cardiology, University Medical Center Hamburg-Eppendorf, Hamburg, - - 2013
The purpose of this study was to assess the frequency, severity, and clinical associations of dural ectasia (DE) in Loeys-Dietz syndrome (LDS). Database analysis of three German metropolitan regions identified 30 patients with LDS and TGFBR1 mutation in 6 and a TGFBR2 mutation in 24 individuals (17 men; mean age: ...
Janus Jeffrey R - - 2013
Paraneoplastic syndromes include a variety of disorders that affect the neurologic, endocrine, mucocutaneous, hematologic, and other systems as a result of neoplastic disease. Although their presentations vary, syndromes occur when tumor antigens exhibit cross-reactivity to similar antigens expressed by these systems. The antigens in the nervous system are called "onconeural" ...
Pokharel M M Department of ENT and Head and Neck Surgery, Dhulikhel Hospital-Kathmandu University Hospital Kathmandu University School of Medical Sciences, Dhulikhel, Kavre, - - 2013
Background Eagle's syndrome (Elongated styloid process) is often misdiagnosed due to its vague symptomatology. The diagnosis relies on detail history taking, palpation of styloid process in tonsillar fossa and imaging modalities. Objective To assess the length and medial angulation of elongated styloid process with the help of three dimensional computed ...
Papadopoulou Vasiliki - - 2013
We report here the interesting case of a 76-year-old man with severe proteinuria who was diagnosed with systemic mastocytosis accompanied by a clonal non-mast-cell lineage haematological disorder (a non-secretory plasma cell dyscrasia). This is a unique report of systemic mastocytosis with a non-secretory plasma cell dyscrasia and nephrotic syndrome. The ...
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