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Takenouchi Toshiki T Department of Pediatrics, Keio University School of Medicine, Tokyo, - - 2014
Dysregulation in the RAS signaling cascade results in a family of malformation syndromes called RASopathies. Meanwhile, alterations in FGFR signaling cascade are responsible for various syndromic forms of craniosynostosis. In general, the phenotypic spectra of RASopathies and craniosynostosis syndromes do not overlap. Recently, however, mutations in ERF, a downstream molecule ...
Kerekes György G Department of Angiology, Institute of Medicine, University of Debrecen Clinical Centre, Moricz Zs str, Debrecen 4032, - - 2014
Rheumatoid arthritis (RA), especially active disease, is associated with considerable changes in body composition, lipids, adipokines and insulin sensitivity. Metabolic changes, such as increased total cholesterol, LDL cholesterol and triglyceride levels, occur even in preclinical RA. Active RA is associated with decreased lipid levels, BMI, fat and muscle mass, as ...
Fathalla Basil M BM Section of Pediatric Rheumatology, Hamad General Hospital (HGH), Doha, Qatar. - - 2014
Autoinflammatory disorders are a group of Mendelian disorders characterized by seemingly unprovoked inflammatory bouts without high-titer autoantibodies or antigen-specific T-cells and are probably due to defects in the innate immunity. We here report on a 4-year-old Arabic boy with the clinical presentation of an autoinflammatory disorder, namely Pyogenic Arthritis, Pyoderma ...
Karakaya B B Center of Interstitial Lung Diseases, St. Antonius Hospital, Postbus 2500, 3430 EM Nieuwegein, The Netherlands. Electronic address: - - 2014
Introduction: Macrophage migration inhibitory factor (MIF) has been shown to be a key regulator in innate and adaptive immune responses. A single nucleotide polymorphism in the 5' region of the MIF gene, MIF -173∗G/C, is associated with increased MIF protein production, in vivo and in vitro. Associations have been shown ...
Nakamura Tadashi T Section of Clinical Rheumatology, Kumamoto Shinto General Hospital, 1-17-27 Shinyashiki, Chuo-ku, Kumamoto, 862-8655, Japan, - - 2014
Dystrophic calcinosis in soft tissue occurs in damaged or devitalized tissues in the presence of normal calcium and phosphorous metabolism. It is often noted in subcutaneous tissues in patients with collagen vascular diseases and may involve a relatively localized area or be widespread. A 74-year-old Japanese woman with an overlap ...
Edwards Jonathan J JJ Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New - - 2014
The RASopathies are a relatively common group of phenotypically similar and genetically related autosomal dominant genetic syndromes caused by missense mutations affecting genes participating in the RAS/mitogen-activated protein kinase (MAPK) pathway that include Noonan syndrome (NS) and Noonan syndrome with multiple lentigines (NSML, formerly LEOPARD syndrome). NS and NSML can ...
Firinu Davide - - 2014
Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis (SAPHO) syndrome is a rare and often unrecognized disease with prominent inflammatory cutaneous and articular manifestations. Since the identification of the syndrome many immunosuppressive drugs have been used for the management of SAPHO, with variable results. The use of anti-TNF-α agents as a therapeutic ...
Vishwanath Sahana - - 2014
Current diagnostic criteria for Sjogren's syndrome developed by the American College of Rheumatology include the presence of antinuclear antibodies, rheumatoid factor, anti-Ro or anti-La autoantibodies. The purpose of this report is to describe two patients with biopsy-proven Sjogren's syndrome lacking these autoantibodies but identified by antibodies to salivary gland protein ...
Jo Daniel D Department of Medicine, Staten Island University Hospital, Staten Island, NY, USA, - - 2014
Muscle pain and weakness in a rheumatoid arthritis (RA) patient has a broad differential, and myositis should be considered early in the disease course as serious limb and life-threatening sequelae may occur. A 55-year-old woman with a past medical history of methotrexate-controlled RA presented with right leg pain for 4 days. ...
Rosenthal Ann K AK Division of Rheumatology, Department of Medicine, Zablocki VA Medical Center and The Medical College of Wisconsin, FEOB 4th Floor, 9200 West Wisconsin Avenue, Milwaukee, WI 53226, USA. Electronic address: - - 2014
Calcium crystal arthritis is often unrecognized, poorly managed, and few effective therapies are available. The most common types of calcium crystals causing musculoskeletal syndromes are calcium pyrophosphate (CPP) and basic calcium phosphate (BCP). Associated syndromes have different clinical presentations and divergent management strategies. Acute CPP arthritis is treated similarly to ...
Rozenberg Dmitry - - 2014
Caplan syndrome is a rare entity that is specific to rheumatoid arthritis and presents with multiple, well-defined necrotic nodules in patients with occupational dust exposure. The present report describes a case of Caplan syndrome involving a 71-year-old man with a known diagnosis of seropositive rheumatoid arthritis who presented to the ...
Hegazi Mo M 1Medical Department, Al Adan Hospital, - - 2014
Rheumatologists are increasingly aware of the entity synovitis with pitting edema. The remitting seronegative symmetrical synovitis with pitting edema (RS3PE) syndrome has been reported with an array of conditions that include polymyalgia rheumatica, rheumatoid arthritis, Sjögren's syndrome and psoriatic arthropathy. Synovitis with pitting edema is now being increasingly recognized with ...
Sana Maria Elena ME USSD Laboratorio di Genetica Medica, Azienda Ospedaliera Papa Giovanni XXIII, Bergamo, - - 2014
Biventricular hypertrophy (BVH) is a disease state characterized by the thickening of the ventricle walls. The differential diagnosis of BVH with other congenital and familial diseases in which increased ventricle wall thickness is a prominent clinical feature is fundamental due to its therapeutic and prognostic value, mainly during infancy. We ...
Ikeda Kei - - 2014
Arthritis is the most frequent manifestation of Blau syndrome, an autoinflammatory disorder caused by the genetic mutation of NOD2. However, detailed information on arthritis in Blau syndrome which the therapeutic strategy should be based on is lacking. This multi-center study aimed to accurately characterize the articular manifestation of Blau syndrome ...
Uygunoğlu Uğur - - 2014
Background Spinal cord involvement is not common, but can be seen in neuro-Behcet's syndrome (NBS). The major site of involvement is the cervical spinal cord with the myelitis-like inflammatory lesions continuing more than two segments, and extending to the brainstem. Case A 30-year-old male patient who has been followed with ...
Liu T T 1Department of Rheumatology and Immunology, People's Hospital, Peking University, Beijing, - - 2014
Objective: The objective of this paper is to clarify the demographic, clinical and serologic characteristics of rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE) overlap syndrome, known as 'rhupus syndrome'. Methods: Between 1995 and 2012, 51 patients were classified as having rhupus among 3733 consecutive SLE patients. Rhupus was defined ...
Shendi Hiba M HM From the Royal Victoria Hospital, Belfast, United - - 2014
Hyperimmunoglobulin D and periodic fever syndrome (HIDS) is a rare, autoinflammatory condition caused by mutations in the mevalonate kinase gene. There is no standard treatment for HIDS, and randomized controlled trials are lacking. Corticosteroids, colchicine, nonsteroidal anti-inflammatory drugs, statins, and cyclosporine are of limited efficacy in controlling this condition. Recent ...
Lachenaud Julie J CHU Robert-Debré, APHP, Département de génétique, 48, boulevard Sérurier, 75019 Paris, France, Inserm UMR1131, Institut universitaire d'hématologie, Université Paris-Diderot, Hôpital Saint-Louis, 1, avenue Claude-Vellefaux, 75010 Paris, - - 2014
Juvenile myelomonocytic leukemias (JMML) are rare but severe myelodysplastic and myeloproliferative neoplasms of infancy. They represent about 10 new cases per year in France and preferentially affect males. JMML are all stem cell diseases the common denominator of which is RAS pathway dysregulation, due to mutations in RAS (NRAS, KRAS) ...
V Shwetha S Senior Lecturer, Department of Oral Medicine and Radiology, M.S. Ramaiah Medical College, M.S. Ramaiah Education Campus , Bangalore, India - - 2014
Sjogren's syndrome (SS) is a chronic autoimmune disorder which is characterized by lymphocyte-mediated destruction of exocrine glands, which produces the classical symptoms of dry eyes and dry mouth, which is referred to as primary SS or the Sicca complex. When it is associated with another autoimmune disease such as rheumatoid ...
Sankar Vidya - - 2014
Classification criteria provide a formalized approach to studying course and management of rheumatic disease, as well as a measure of improvement in care. Understanding the purposes of classification criteria sets and the differences between different classification criteria is crucial for understanding rheumatic disease and for the design and conduct of ...
Wu Jason J - - 2014
Primary Sjögren's syndrome can have multiple extra-glandular manifestations ranging from mild to severe. Treatment for extra-glandular manifestations is organ specific and therapies are targeted based on the primary organs involved. Preferred treatment options used for extra-glandular manifestations of Sjögren's syndrome are usually extrapolated from the physician's experience in treating similar ...
Mukherjee Devdeep D Departments of Pediatric Medicine and Pediatric Rheumatology, Institute of Child Health, Kolkata, West Bengal, India. Correspondence to: Dr Devdeep Mukherjee, Flat No. 6F, Uttara Co-operative Housing Society, 13, Broad Street, Kolkata - 700019. - - 2014
Kawasaki disease is an acute febrile vasculitis of childhood. Macrophage activation syndrome is a rare life threatening complication. 4-year-old boy with Kawasaki Disease treated with intravenous immunoglobulins. He developed encephalopathy, hepatosplenomegaly and pancytopenia. Blood investigations and bone marrow aspiration suggested macrophage activation syndrome. Good response to pulse methylprednisolone (30 mg/kg/d) ...
Mahroum Naim N Department of Medicine 'B', Sheba Medical Center, Tel-Hashomer, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, - - 2014
The cornerstone of adult onset Still's disease is the triad of daily fever, arthritis and rash. This syndrome remains enigmatic and most often a disease of exclusion. There are both musculoskeletal as well as systemic features. More importantly, reactive hemophagocytic syndrome may occur in patients. In this review we attempt ...
Pasmant E E 1] UMR_S745 INSERM, Faculté des Sciences Pharmaceutiques et Biologiques, Université Paris Descartes Sorbonne Paris Cité, Paris, France [2] Service de Biochimie et Génétique Moléculaire, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, Paris, - - 2014
Constitutional dominant loss-of-function mutations in the SPRED1 gene cause a rare phenotype referred as neurofibromatosis type 1 (NF1)-like syndrome or Legius syndrome, consisted of multiple café-au-lait macules, axillary freckling, learning disabilities and macrocephaly. SPRED1 is a negative regulator of the RAS MAPK pathway and can interact with neurofibromin, the NF1 ...
Alfieri Paolo P Dipartimento di Neuroscienze, Bambino Gesù Children's Hospital, IRCCS, Rome, - - 2014
Here, we describe neurobehavioral features in patients with RASopathies (i.e., Noonan syndrome, LEOPARD syndrome, Costello syndrome, and cardiofaciocutaneous syndrome), developmental disorders caused by mutations in genes coding transducers participating in the RAS-MAPK signaling cascade. Parents of 70 individuals with a RASopathy were asked to fill out the following questionnaires: Child ...
de Carvalho Mamede M Department of Neurosciences, St Maria Hospital, Lisbon, Portugal; Institute of Molecular Medicine, Lisbon, Portugal. Electronic address: - - 2014
Craniovertebral dislocation is uncommon, but its diagnosis is important taking into account the potential severity of the neurologic complications. A number of causes are known; the most common are Down syndrome, rheumatoid arthritis, Paget's disease, other metabolic bone diseases, and craniocervical trauma. Down's syndrome is a relatively common clinical condition ...
Ostrowski Rochella A RA Division of Rheumatology, Department of Medicine, Loyola University Medical Center, Maywood, IL, - - 2014
The neurologic complications of rheumatic disease are highly variable and their manifestations are linked to the pathogenesis and clinical phenotype of the specific rheumatologic syndrome. In active rheumatoid arthritis (RA), the peripheral nervous system is most commonly involved and mononeuritis multiplex, nerve entrapment and vascultitic sensorimotor neuropathy are not uncommon. ...
Sahin Cem C Department of Internal Medicine, Mugla University Medical Faculty, Mugla, - - 2014
The Plummer-Vinson syndrome is a clinical syndrome characterised by dysphagia, web or webs in upper oesophagus and iron-deficiency anaemia. The syndrome is often seen in women of age 40-70 years and rarely in adolescents. Plummer-Vinson syndrome might be associated with malignancy, myeloproliferative disorder and autoimmune diseases including coeliac disease, rheumatoid ...
Flannery Olivia O Department of Plastics and Reconstructive Surgery, Middlemore Hospital, Auckland, New - - 2014
We describe a case of Hajdu-Cheney syndrome affecting the scaphotrapeziotrapezoid joint presently being treated non-operatively. This syndrome poses the problem of non-union when surgical intervention is required.
Nagayama Yoshio Y Department of Orthopaedic Surgery, Osaka Rosai Hospital, 1179-3 Nagasonecho, Kita-ku, Sakai 591-8025, - - 2014
A 39-year-old female patient with rheumatoid arthritis developed Ramsay Hunt syndrome after infliximab treatment. This condition is caused by the reactivation of varicella zoster virus infection in the geniculate ganglion of facial nerve in the host's immunosuppression. She was treated immediately with valaciclovir and hydrocortisone, and the complete recovery was ...
Horai Yoshiro Y Unit of Translational Medicine, Department of Immunology and Rheumatology, Nagasaki University, Graduate School of Biomedical Sciences, - - 2014
A 73-year-old man with a history of myasthenia gravis (MG) was diagnosed with rheumatoid arthritis (RA) based on a history of polyarthritis and positivity for anti-citrullinated protein antibodies (ACPA). He presented with a high level of serum vascular endothelial growth factor (VEGF) and RS3PE syndrome-like pitting edema in the extremities, ...
Kobak Senol S Department of Rheumatology, Faculty of Medicine, Sifa University, 35100 Bornova, Izmir, - - 2014
A 46-year-old male patient diagnosed with ankylosing spondylitis presented to our polyclinic with complaints of pain, swelling, and limitation in joint mobility in both ankles and erythema nodosum skin lesions in both pretibial sites. The sacroiliac joint graphy and the MRI taken revealed active and chronic sacroiliitis. On the thorax ...
Billiet Laura L 0000-0002-1675-438X Department of Medicine, The George Washington University, 2150 Pennsylvania Avenue, NW, Washington, DC 20037, - - 2014
Hyperuricemia has long been established as the major etiologic factor in gout. In recent years, a large body of evidence has accumulated that suggests that hyperuricemia may play a role in the development and pathogenesis of a number of metabolic, hemodynamic, and systemic pathologic diseases, including metabolic syndrome, hypertension, stroke, ...
Dan Diana D Department of Rheumatology and Clinical Immunology, University Hospital Insel, 3010 Bern, Switzerland. - - 2014
Myasthenia gravis is an autoimmune disease characterized by fluctuating muscle weakness. It is often associated with other autoimmune disorders, such as thyroid disease, rheumatoid arthritis, systemic lupus erythematosus, and antiphospholipid syndrome. Many aspects of autoimmune diseases are not completely understood, particularly when they occur in association, which suggests a common ...
Swierkot Jerzy J Klinika Reumatologii i Chorób Wewnętrznych, Uniwersytet Medyczny we - - 2014
Paraneoplastic syndromes, which are discussed in this paper, are a heterogeneous group of disorders associated with cancer, but not directly caused by the physical effects of the primary tumor or its metastases. May precede the appearance of the malignant process, occur simultaneously or disclose in the course of cancer. Paraneoplastic ...
Chen Jin-Lan JL Department of Cardiothoracic Surgery, the 2nd Xiangya Hospital of Central South University, Changsha, - - 2014
RASopathies are a group of disorders related to Noonan syndrome that with dysregulated RAS-mitogen-activated protein kinase (MAPK) signaling pathway. Noonan syndrome (NS, OMIM# 163950) is a both phenotypically and genotypically variable disorder. We and other researchers have demonstrated that copy number variations underlie a small percentage of patients with RASopathies. ...
Mainali Naba Raj NR Department of Internal Medicine, Reading Health System, West Reading, PA, - - 2014
Male, 67 FINAL DIAGNOSIS: Remitting seronegative symmetrical synovitis with pitting edema (RS3PE) syndrome Symptoms: Bilateral wrist swelling Medication: - Clinical Procedure: - Specialty: Rheumatology. Unusual or unexpected effect of treatment. Remitting seronegative symmetrical synovitis with pitting edema (RS3PE) syndrome is a rare clinical entity characterized by the sudden onset of ...
Brems Hilde H Department of Human Genetics, KU Leuven, Leuven, - - 2013
Multiple café-au-lait macules (CALMs) are the hallmark of Von Recklinghausen disease, or neurofibromatosis type 1 (NF1). In 2007 we reported that some individuals with multiple CALMs have a heterozygous mutation in the SPRED1 gene and have NF1-like syndrome, or Legius syndrome. Individuals with Legius syndrome have multiple CALMs with or ...
Prat Lola L Université Paris Diderot, Sorbonne Paris Cité; AP-HP, Paris, France; Service de Dermatologie et Service d'Anatomo-Pathologie, Hôpital Saint Louis, 1 Avenue Claude Vellefaux, 75010 Paris, - - 2014
Neutrophilic dermatoses (ND) are inflammatory skin conditions characterized by a sterile infiltrate of normal polymorphonuclear leukocytes. The main clinical forms of ND include Sweet syndrome, pyoderma gangrenosum, erythema elevatum diutinum, subcorneal pustular dermatosis, and their atypical or transitional forms. ND are often idiopathic, but they may be associated with myeloid ...
Oliveira João Bosco - - 2013
Several autoimmune lymphoproliferative syndromes have been described lately. We review here the main clinical and laboratory findings of these new disorders. The prototypical autoimmune lymphoproliferative syndrome (ALPS) has had its diagnostic criteria modified, somatic mutations in RAS genes were found to cause an ALPS-like syndrome in humans, and mutations in ...
Sandhya P P Christian Medical College and Hospital, Vellore 632004, Tamil Nadu, India - Department of Clinical Immunology and - - 2013
Juvenile ankylosing spondylitis (JAS) is a chronic autoimmune disorder which causes considerable morbidity when left untreated; it occurs predominantly in men. We describe an Asian Indian woman who had JAS with phenotypic features of Turner syndrome (TS) and was found to be a mosaic for 45, X/46, X, psu idic ...
Cizmarova M - - 2013
The term ´Rasopathies´ represents a group of five neurodevelopmental syndromes (Noonan, LEOPARD, Costello, Cardio-facio-cutaneous, and Neurofibromatose-Noonan syndrome) caused by germline mutation in genes encoding proteins involved in RAS/MAPK (rat sarcoma/mitogen-activated protein kinase) signaling pathway. The RAS/MAPK signaling pathway participates in regulation of cell determination, proliferation, differentiation, migration, and senescence and dysregulation ...
Alcala Juan Marcelo Fernandez - - 2013
The involvement of the cervical spine is a common feature of rheumatoid arthritis (RA). To study the prevalence of radiographic changes of the cervical spine in patients with RA and their association with clinical and serological profiles of the disease. We analysed lateral (neutral position, hyperextension, hyperflexion) and transoral views ...
Kochhar Aaina - - 2013
The acromelic dysplasias comprise short stature, hands and feet, and stiff joints. Three disorders are ascribed to this group, namely Weill-Marchesani syndrome, geleophysic dysplasia, and acromicric dysplasia, although similar in phenotype, can be distinguished clinically. Weill-Marchesani syndrome, on the basis of microspherophakia and ectopia lentis; geleophysic dysplasia by progressive cardiac ...
Pasic Srdjan - - 2013
We report on pediatric patient with Nijmegen breakage syndrome (NBS), a rare DNA repair disorder characterized by microcephaly, immunodeficiency and predisposition to malignant lymphomas, who developed juvenile idiopathic arthritis (JIA)-like polyarthritis. In patients with primary immunodeficiencies (PID), septic arthritis due to pyogenic bacteria or mycoplasmal arthritis are the most common ...
Torres Jiménez Alfonso - - 2013
The macrophage activation syndrome is a rare but potentially fatal complication of patients with autoimmune rheumatic diseases. This is a clinicopathological entity characterized by activation of histiocytes with prominent hemophagocytosis in the bone marrow and other reticuloendothelial systems. In patients with lupus it may mimic an exacerbation of the disease ...
Pillai Parvathy - - 2013
Abstract Blau syndrome (BS), a rare autosomal dominant autoinflammatory syndrome, is an example of a monogenic disease. It was first described as a classic triad of uveitis, arthritis, and exanthema, typically seen in patients less than four years of age. Since that time, the phenotype has been expanded to include ...
Craggs Lorna - - 2013
Antisynthetase syndrome is a subgroup of the idiopathic inflammatory muscle diseases and is characterised by myositis, interstitial pulmonary disease, arthritis, and Raynaud phenomenon. We report the case of a 34-year-old woman with known antisynthetase syndrome who presented with subcutaneous calcinosis bilaterally in the submandibular region.
Cruz-Tapias Paola - - 2013
ASIA syndrome, "Autoimmune (Auto-inflammatory) Syndromes Induced by Adjuvants" includes at least four conditions which share a similar complex of signs and symptoms and have been defined by hyperactive immune responses: siliconosis, macrophagic myofasciitis syndrome, Gulf war syndrome and post-vaccination phenomena. Exposure to adjuvants has been documented in these four medical ...
Qi Jian - - 2013
This study aimed to investigate the predisposition of common pre-miRNA SNPs with Behcet's disease (BD), Vogt-Koyanagi-Harada (VKH) syndrome and acute anterior uveitis (AAU) associated with ankylosing spondylitis (AS). A two-stage association study was carried out in 859 BD, 400 VKH syndrome, 209 AAU(+)AS(+) patients and 1,685 controls all belonging to ...
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