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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 ...
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) ...
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) ...
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 ...
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 ...
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 ...
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 ...
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, ...
Mainali Naba Raj NR Department of Internal Medicine, Reading Health System, West Reading, PA, - - 2014
Patient: 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 ...
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 ...
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 ...
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 ...
Emad Yasser - - 2013
Familial arthropathy associated with congenital camptodactyly has been previously recognized as a definite clinical entity in the literature. The clinical spectrum of this disease seems to be variable. The typical features of congenital camptodactyly, arthropathy, coxa vara and pericarditis (CACP syndrome) appear to be a more frequent presentation in children ...
Rauen Katherine A - - 2013
The RASopathies are a clinically defined group of medical genetic syndromes caused by germline mutations in genes that encode components or regulators of the Ras/mitogen-activated protein kinase (MAPK) pathway. These disorders include neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, capillary malformation-arteriovenous malformation syndrome, Costello syndrome, cardio-facio-cutaneous syndrome, ...
Mat Cem - - 2013
Behçet's syndrome is a systemic vasculitis of small and large vessels affecting both veins and arteries. Almost all patients with Behçet's syndrome have recurrent oral aphthae, followed by genital ulcers, variable skin lesions, such as erythema nodosum and papulopustuler lesions, arthritis, uveitis, thrombophlebitis, and gastrointestinal and central nervous system involvement. ...
Zeng P - - 2013
Macrophage activation syndrome (MAS) is a severe and life-threatening complication of rheumatic disorders in children. We described a 9-year-old girl in whom MAS developed as a complication of systemic juvenile idiopathic arthritis (S-JIA) at onset with obvious hemophagocytosis presented in the marrow. She suffered from high fever and generalized rash ...
Ketterl Tyler G - - 2013
Opsoclonus-myoclonus syndrome (OMS) may be associated with ANNA-1 (anti-Hu) autoantibodies. The standard treatment with IVIG, steroids, and anti-CD20 monoclonal antibody may fail, and optimal therapy is unknown. A patient developed OMS with high-titer ANNA-1 following recovery from neuroblastoma. She failed standard therapy and had only transient response to rituximab. Treatment ...
Wilson Brian T - - 2013
Mutations in Fibrillin 1 (FBN1) are associated with Marfan syndrome and in some instances with the MASS phenotype (myopia, mitral valve prolapse, borderline non-progressive aortic root dilatation, skeletal features, and striae). Potential confusion over diagnosis and management in patients with borderline features has been addressed through the revised Ghent nosology, ...
Sharma Aman A Department of Internal Medicine, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, - - 2013
The major objective of our study was to assess the prevalence of metabolic syndrome in Indian patients with psoriatic arthritis. This was a one-time survey involving no follow-up. The study was performed among outpatients attending the speciality clinics of an institutional tertiary referral centre. A consecutive sample of 100 patients ...
Aoki Yoko Y Department of Medical Genetics, Tohoku University School of Medicine, Sendai 980-8574, Japan. - - 2013
RAS GTPases mediate a wide variety of cellular functions, including cell proliferation, survival, and differentiation. Recent studies have revealed that germline mutations and mosaicism for classical RAS mutations, including those in HRAS, KRAS, and NRAS, cause a wide spectrum of genetic disorders. These include Noonan syndrome and related disorders (RAS/mitogen-activated ...
Meiorin Silvia M - - 2013
Monogenic autoinflammatory syndromes are caused by mutations in protein-coding genes that have a pivotal role in the regulation of the inflammatory response. Due to their genetic nature, most of these syndromes usually begin during childhood. They are clinically characterized by recurrent episodes of systemic inflammation (fever with different clinical manifestations, ...
Saha Abhijeet - - 2013
We report a 12-year-old boy with nephrotic syndrome due to renal AA amyloidosis. The AA amyloidosis was associated with a 3-year history of systemic-onset juvenile idiopathic arthritis. The presence of serum amyloid A protein was confirmed by laser microdissection of Congo Red-positive glomeruli and vessels followed by liquid chromatography and ...
Enríquez R - - 2013
Cryopyrin-associated periodic syndrome (CAPS) is due to gain-of-function mutations in the cryopyrin gene, which determines an overactive inflammatory response. AA amyloidosis is a complication of this syndrome. A 53-year-old man was referred to us because of lower limb edema. Past history: at the age of 20, he complained of arthralgia/arthritis ...
Horneff Gerd - - 2013
An 11-year-old Turkish girl from a non-consanguineous family was suffering from joint pain, fever, hepatosplenomegaly, and respiratory insufficiency. Laboratory abnormalities were thrombocytopenia, elevated levels of serum transaminases, lactate dehydrogenase, and C-reactive protein (up to 193 mg / l), a hyperferritinaemia of 8030 ng/ml, and an increased sCD25. The tentative diagnosis ...
Rostom Samira - - 2013
BACKGROUND: Metabolic syndrome, a cluster of classical cardiovascular risk factors, including hypertension, obesity, glucose intolerance, and dyslipidemia is highly prevalent in patients with rheumatoid arthritis (RA). The aim of the study was to assess the frequency of metabolic syndrome (MS) in RA patients, and to evaluate the relationships between metabolic ...
Ebbo Mikael - - 2013
Inflammatory myopathy is a major clinical manifestation of the antisynthetase syndrome. Patients with anti Jo-1 antibodies can also present with other clinical manifestations as arthritis, mechanic's hands and lung fibrosis. As in dermatomyositis, polymyositis and overlap myopathies proximal muscle of the limbs are preferentialy involved. Associated fascia edema on magnetic ...
Le Dantec Christelle - - 2013
CD6 is a cell surface receptor expressed on the majority of T cells and a subset of B cells. When expressed, CD6 contributes to lymphocyte activation through its extracellular domain 1, while adhesion and cellular migration are related to the extracellular scavenger receptor cysteine-rich domain (SRCR-D)-3 of CD6. Itolizumab, clone ...
Revencu N - - 2013
The RASA1 gene encodes p120RASGAP, a multidomain cytoplasmic protein that acts as a negative regulator of the RAS signalling pathway. Heterozygous loss-of-function RASA1 mutations were identified in patients with Parkes Weber syndrome and multifocal capillary malformations. This syndrome is characterised by a capillary blush on an extremity, arteriovenous microfistulas, and ...
McDonell Laura M - - 2013
Microcephaly-capillary malformation (MIC-CAP) syndrome is characterized by severe microcephaly with progressive cortical atrophy, intractable epilepsy, profound developmental delay and multiple small capillary malformations on the skin. We used whole-exome sequencing of five patients with MIC-CAP syndrome and identified recessive mutations in STAMBP, a gene encoding the deubiquitinating (DUB) isopeptidase STAMBP ...
Dordoni Chiara - - 2013
Visceroptosis is described in several heritable connective tissue disorders, including the hypermobility type of Ehlers-Danlos syndrome (hEDS), a.k.a. joint hypermobility syndrome (JHS). Clinical features of hEDS comprise joint hypermobility, mild skin hyperextensibility, joint instability complications, chronic joint/limb pain, and positive family history. Uterine and rectal prolapse has been reported in ...
Bandinelli Francesca - - 2013
Stiff skin syndrome (SSS) is a rare scleroderma-like syndrome characterised by stone hard skin, joint limitation and progressive restriction of chest that may lead to death. We describe the efficacy of haematopoietic autologous stem cell transplantation (HSCT) in a case of SSS secondary to a smouldering myeloma (SM), with severe ...
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