Search Results
Results 1 - 50 of 790
1 2 3 4 5 6 7 8 9 10 >
Verloes Alain A 0000000348190264 1] Department of Genetics, APHP-Robert DEBRE University Hospital, and Paris-Diderot University, Paris, France [2] INSERM UMR 1141, Hôspital Robert DEBRE, Paris, - - 2014
Baraitser-Winter, Fryns-Aftimos and cerebrofrontofacial syndrome types 1 and 3 have recently been associated with heterozygous gain-of-function mutations in one of the two ubiquitous cytoplasmic actin-encoding genes ACTB and ACTG1 that encode β- and γ-actins. We present detailed phenotypic descriptions and neuroimaging on 36 patients analyzed by our group and six ...
Afzal Aasim A Division of Neurology, Department of Internal Medicine, Baylor University Medical Center at - - 2014
A record number of West Nile virus (WNV) cases and fatalities seen in 2012 have brought to light the numerous manifestations of neuroinvasive disease. We report a case of opsoclonus myoclonus syndrome attributed to WNV and its clinical course after treatment with a combination of steroids and intravenous immunoglobulin. Our ...
Suzuki Seiichiro S Department of Respiratory Medicine, Hamamatsu Rosai Hospital, - - 2014
A 64-year-old man who had been exposed to asbestos was referred to our hospital for a detailed examination of left pleural effusion. A laboratory examination of the urine and blood revealed nephrotic syndrome. A thoracoscopic examination did not yield a definitive diagnosis. Twenty months later, a left pleural tumor became ...
Kaur Sarabjit S Pt BDS PGIMS, Rohtak, Haryana, - - 2014
Griscelli Syndrome (GS) is a rare autosomal recessive disorder characterized by pigmentary dilution of the hair and skin (partial albinism). Three different types (1-3) caused by mutation in three different genes have been described. Patients with GS type 1 have primary central nervous system dysfunction; type 2 patients commonly develop ...
Yun Seongseok S Department of Medicine, University of Arizona, Tucson, AZ 85721, USA ; Department of Medicine, Arizona Health Sciences Center, 6th Floor, Room 6336, 1501 N. Campbell Avenue,Tucson, AZ 85719, - - 2014
We describe a rare case of a 46-year-old woman with history of refractory nephrotic syndrome and hypertension who presented with worsening proteinuria and kidney function. Work-up for both autoimmune and infectious diseases and hematologic malignancies including multiple myeloma were negative. Kidney biopsy demonstrated glomerular sclerotic change with lambda light chain ...
Price Vera H - - 2013
The differential diagnosis of a strongly positive and painless hair pull test includes alopecia areata and loose anagen syndrome. A hair mount examined with low power light microscopy easily clarifies the diagnosis.
Oliveira Renata Carvalho de - - 2013
A 3-year ecological study of small mammals was carried out in an endemic area for Hantavirus Pulmonary Syndrome in the State of Santa Catarina in Southern Brazil. A total of 994 rodents of 14 different species corresponding to the subfamilies of Sigmodontinae, Murinae, Eumysopinae, and Caviinae were captured during 2004 ...
Shao Lei - - 2013
Abstract Abnormalities in the hair can be congenital or acquired conditions. Examples of genetic disorders with associated hair abnormalities include Menkes syndrome, Netherton syndrome, uncombable hair syndrome, trichothiodystrophy, and loose anagen hair syndrome. Acquired hair abnormalities can be associated with grooming or use of various hair products. There are many ...
Silvas Emil - - 2013
Femoral-facial syndrome (FFS), also known as femoral hypoplasia-unusual facial syndrome (FHUFS) is a rare disorder, which has been more frequently described in females. Only a few cases diagnosed prenatally have been reported so far in the literature. FFS is characterized by femoral hypoplasia and various facial abnormalities, which can be ...
Eker Hatice Koçak - - 2013
Baraitser-Winter syndrome (BRWS) is a rare condition affecting the development of the brain and the face. The most common characteristics are unusual facial appearance including hypertelorism and ptosis, ocular colobomas, hearing loss, impaired neuronal migration and intellectual disability. BRWS is caused by mutations in the ACTB and ACTG1 genes. Cerebro-fronto-facial ...
Powers Lisa E LE 1  Program in Ecology, Evolution and Conservation Biology, University of Illinois, 515 Morrill Hall, 505 S Goodwin Avenue, Urbana, Illinois 61801, - - 2013
Abstract White-nose syndrome (WNS) is an emerging infectious wildlife disease that has killed more than 5 million bats in the eastern United States since its discovery in winter 2006. The disease is associated with a cold-adapted fungus that infects bats during winter hibernation. Wing damage has been documented in bats ...
Kumar Saurabh - - 2013
It has been reported that cardiological screening and genetic evaluation in relatives of sudden unexplained death syndrome (SUDS) and unexplained cardiac arrest (UCA) families may uncover a heritable etiology in a significant proportion of families. To evaluate the yield of a comprehensive evaluation protocol of a large, unselected cohort of ...
Okochi Atsushi - - 2013
Designed and synthesized porphyrin-globotriose hybrids effectively degraded verotoxin-1, which causes severe bloody diarrhoea and fetal hemolytic uremic syndrome (HUS). Degradation was achieved using long-wavelength UV or visible light irradiation in the absence of any additives and under neutral conditions. Moreover, the hybrids neutralized the cytotoxicity of verotoxin upon photo-irradiation.
Papadakis Michael M Cardiovascular Sciences Research Centre, St George's University of London, - - 2013
The sudden death of young individuals is commonly attributed to inherited cardiac disorders, and familial evaluation is advocated. The identification of pathognomonic histopathologic findings, or the absence of cardiac pathology (sudden arrhythmic death syndrome [SADS]) at postmortem, directs familial evaluation targeting structural disorders or primary arrhythmogenic syndromes, respectively. In a ...
Johnston Jennifer J - - 2013
Exome sequence analysis can be instrumental in identifying the genetic etiology behind atypical disease. We report a patient presenting with microcephaly, dysmorphic features, and intellectual disability with a tentative diagnosis of Dubowitz syndrome. Exome analysis was performed on the patient and both parents. A de novo missense variant was identified ...
Lindop Rhianna - - 2013
Long-term humoral autoimmunity to RNA-protein autoantigens is considered a hallmark of systemic autoimmune diseases. We use high resolution Orbitrap mass spectrometric autoantibody sequencing to track the evolution of a Ro60-specific public clonotypic autoantibody in 4 patients with primary Sjögren's syndrome. This clonotype is specified by a VH3-23/VK3-20 heavy and light ...
Cryan Paul M - - 2013
The emerging wildlife disease white-nose syndrome is causing widespread mortality in hibernating North American bats. White-nose syndrome occurs when the fungus Geomyces destructans infects the living skin of bats during hibernation, but links between infection and mortality are underexplored. We analyzed blood from hibernating bats and compared blood electrolyte levels ...
Ugalde Paula A - - 2013
Platypnea-orthodeoxia syndrome is a rare and poorly understood condition related to the development of a right-to-left intracardiac shunt at the atrial level through a benign and silent patent foramen ovale. It is usually recognized after major lung resection, recurrent pulmonary embolism or chronic lung disease. Orthostatic dyspnea and cyanosis is ...
Ramos Wm - - 2013
This paper presents a floristic survey of the wood component of cerrado s.s. (eastern face) and gallery forest (western face) areas carried out in the southern part of the Serra de Maracaju. The dispersal syndromes and floristic relations of this portion of the Serra were compared to those of other ...
Doi Hirokazu - - 2013
This study investigated the ability of adults with Asperger syndrome to recognize emotional categories of facial expressions and emotional prosodies with graded emotional intensities. The individuals with Asperger syndrome showed poorer recognition performance for angry and sad expressions from both facial and vocal information. The group difference in facial expression ...
Duquesne Alyette - - 2013
A 62-year-old woman presented with crystalline keratopathy, crystal-storing histiocytosis, Fanconi syndrome, and a serum monoclonal IgG-κ and urinary κ light chain. Histology and electron microscopy studies revealed the presence of crystals within macrophages in multiple eye sites, in the kidney and in the bone marrow. The variable domain of the ...
Popov Horatiu I - - 2012
Milwaukee shoulder syndrome (MSS) describes a destructive shoulder arthropathy associated with of calcium hydroxyapatite and calcium pyrophosphate dihydrate crystals deposition found mainly in elderly women. Pigmented villonodular synovitis (PVNS) is a benign proliferative disorder of the synovium usually seen in young adults, found frequently in the knee joint. We present ...
Yamashita Thamy - - 2012
This paper reviews the diagnostic and classificatory concepts of mycosis fungoides and Sézary syndrome in light of the latest normative publications. It describes the great variability of the clinical expression of mycosis fungoides in its early stages as well as the histopathological and immunohistochemical aspects that help with diagnosis. The ...
Verma Shyam B - - 2012
A rare presentation of Sweet's syndrome (SS) (acute febrile neutrophilic dermatosis) is being reported in a 28-year-old man from India. I report a rare presentation of SS that consisted of bilaterally symmetrical, bullous lesions on both forearms with a seasonal recurrence. A thorough work-up for the usual conditions predisposing to ...
Merghani Ahmed - - 2012
Most GPs will encounter at least one case of sudden arrhythmic death syndrome (SADS) during their career. They may have to evaluate a young person at risk of SADS or offer support and screening to family members. SADS is the term used to describe an unexpected death in individuals with ...
Hua Bin - - 2012
Abstract Background: A Chinese medicine (CM) "Syndrome" or "pattern of disharmony" is a diagnostic subcategory of a disease/disorder or symptom, characterized by particular symptoms and signs, and indicative of the etiology and the state of pathogenesis at that point in time. In CM, treatment is aimed at addressing the disease/disorder ...
Riddle Mark S - - 2012
Campylobacteriosis is a leading cause of acute infectious diarrhea in the developing world, where it causes considerable mortality, and in developed countries, where it accounts for significant healthcare and other costs. Evidence has emerged from basic science, clinical, and epidemiological domains that suggests that Campylobacter infection is not limited to ...
Propst Evan J - - 2012
Auriculo-condylar syndrome (ACS) is a rare condition affecting first branchial arch structures. The types of hearing loss and temporal bone findings in ACS have not been reported. We describe a 14-year-old male with constricted pinnae, mandibular dysostosis, glossoptosis, a high-arched palate, hearing loss, and cholesteatoma. Computed tomography imaging demonstrated malleoincudal ...
Kumar Digge Vijay - - 2012
Reactive arthritis or Reiter's syndrome characteristically affects the joint of the lower limb in an asymmetrical pattern. Usually it does not affect the axial skeleton or upper limbs. Although cases of atraumatic atlantoaxial subluxations have been reported, no case of spontaneous sternoclavicular dislocation in Reiter's syndrome has been reported. This ...
Wang Zhi-Zhong - - 2012
To investigate a method for quantitative differential diagnosis of damp-heat and cold-damp impeding syndrome of rheumatoid arthritis (RA) in Chinese medicine (CM). Laboratory parameters were collected from 306 patients with RA. The clinical symptoms and laboratory parameters were compared between patients with these two syndromes (158 with RA of damp-heat ...
Selmi Carlo - - 2012
Our understanding of autoimmune diseases results from the perfect combination of basic and clinical scientific research, and the figure that is closest to the proposed autoimmunology specialist is certainly the internist. The role of B cells in rheumatoid arthritis, the immunological mechanisms to fibrosis or to tissue specific damage, the ...
Celletti Claudia - - 2012
Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of inherited connective tissue disorders characterised by joint hypermobility, skin hyperextensibility and tissue fragility. It has recently been shown that muscle weakness occurs frequently in EDS, and that fatigue is a common and clinically important symptom. The aim of this ...
Nahar I K - - 2012
Palmar fasciitis and polyarthritis syndrome (PFPA) is an uncommon syndrome that affects predominantly elderly women and characterized by symmetrical polyarthritis followed by flexioncontracture of the hands. It is usually associated with a metastatic malignant neoplasm, and therefore implies a poor prognosis. We report a case of a 54-year old woman ...
Shibuya Mihoko - - 2012
A 69-year-old man with sensorineural hearing loss and iritis was diagnosed with atypical Cogan's syndrome. He had several systematic manifestations: aortitis, meningitis, panniculitis and seronegative arthritis. Remission induced by treatment with high doses of prednisolone was followed by relapse within 1 year. Although his condition was resistant to various immunosuppressive ...
Sarkar Supriya - - 2012
Rhupus syndrome, the overlap of rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE), is an extremely uncommon condition. Organ damages found due to SLE are usually mild in rhupus. Lupus pneumonitis in rhupus syndrome has not been reported worldwide. We are reporting a 23-year-old female with bilateral symmetric erosive arthritis, ...
Reina Delia - - 2012
Sweet's syndrome or acute neutrophilic febrile dermatosis is a systemic disease of unknown etiology characterized by the appearance of skin lesions produced by a neutrophilic dermal infiltrate, fever and peripheral leukocytosis. It may be associated with hematologic diseases, including leukemia, with immune diseases as rheumatoid arthritis, or can occur in ...
Satoh Fumiko - - 2012
Familial neglect was suspected when an older deceased female was found to have large decubitus ulcers and weight loss. Postmortem examinations including histopathology and bacterial culture revealed systemic Staphylococcus aureus infection as the cause of death. The victim might have exhibited Felty syndrome, which is characterized by complications of splenomegaly ...
Kim J H - - 2012
We retrospectively reviewed 633 hands in 362 patients who had idiopathic carpal tunnel syndrome and underwent carpal tunnel release between 1999 and 2009. Electrophysiological studies and simple radiographs of the wrist, cervical spine, and basal joint of the thumb were routinely checked, and patients were also assessed for the presence ...
Kosrirukvongs Panida - - 2012
Rheumatoid arthritis has manifestations in various organs including ophthalmic involvement. The present study evaluates prevalence of dry eye and secondary Sjogren's syndrome using salivary scintigraphy which has not been used in previous reports. To evaluate the prevalence of secondary Sjogren's syndrome in patients with rheumatoid arthritis, including clinical characteristics and ...
Maggi F - - 2012
The xenotropic murine leukemia virus-related virus (XMRV) has been recently linked to chronic fatigue syndrome in a US cohort in whom the virus was demonstrated in 67% patients vs 3.7% healthy controls. Albeit this finding was not substantiated by subsequent reports and eventually considered a laboratory contamination, the matter is ...
Tomi Anne-Laurence - - 2012
Felty's syndrome (FS) is a rare association of rheumatoid arthritis (RA), neutropenia and splenomegaly. Mechanisms of neutropenia in FS are unclear but involve both innate and humoral immunity, impaired granulopoiesis and decreased granulocyte half-life. Several treatments have been used without clear efficiency. We report a patient with FS efficiently treated ...
Tzioufas A G - - 2012
The 11th International Symposium for Sjogren's syndrome was held in Athens, Greece in September 2011. This symposia is part of a long series of meetings that have attempted to meet the needs of both scientists and physicians in improving the healthcare of their patients with Sjogren's syndrome. Sjogren's syndrome affects ...
Kaly Lisa - - 2012
In the past decade, tocilizumab, an anti interleukin-6 agent, has been successfully developed as a therapeutic agent for the treatment of rheumatoid arthritis and systemic onset juvenile idiopathic arthritis. In addition to countering inflammation, tocilizumab is also known affect B cell as well as T cell function, thus modulating immune ...
Raychaudhuri Siba P - - 2012
Psoriatic arthritis (PsA) is associated with serious comorbidities such as increased cardiovascular risk, hypertension, depression, and reduced quality of life. Patients with psoriasis have been observed to have an increased incidence of metabolic syndrome compared with the general population; recently, this has also been observed in patients with PsA. This ...
Weisz George M - - 2012
OBJECTIVES: To offer a second opinion on the recently published retrospective diagnosis of Cardinal Carlo de' Medici (1596-1666), a prominent member of the grand ducal family then ruling Tuscany. METHODS: Retrospective diagnosis of historical figures is difficult and at times controversial, even with modern technology. It is based on contemporaneous ...
Kanazawa Nobuo - - 2012
Hereditary autoinflammatory syndromes are monogenic disorders with an inborn error of innate immunity, and include periodic fever syndromes such as familial Mediterranean fever (FMF), tumor necrosis factor receptor-associated periodic syndrome and cryopyrin-associated periodic syndromes (CAPS), pyogenic diseases such as pyogenic arthritis, pyoderma gangrenosum and acne syndrome (PAPAS), and granulomatous diseases ...
Bellary Sharath S - - 2012
Knee pain is a very common complaint seen in the clinical setting. A torn medial meniscus, osteochondral defects, inflammation, or an irritated medial plica are some of the most common causes of medial knee pain. Plicae are synovial invaginations that are believed to be remnants of the embryological development of ...
Federici S - - 2012
The monogenic autoinflammatory syndromes are conditions caused by mutations of genes coding for proteins that play a pivotal role in the regulation of the inflammatory response. Due to their genetic nature, most of these disorders have an early onset. Clinically they are characterised by recurrent flares of systemic inflammation presenting ...
Sawaki K - - 2012
Zimmermann-Laband syndrome is a very rare disorder characterized by gingival fibromatosis, abnormalities of soft cartilages of the nose and/or ears, hypoplastic or absent nails and terminal phalanges, joint hypermobility, hypatoslenomegaly, mild hirsutism and learning difficulties. Early presentation of Zimmermann-Laband syndrome in a newborn has rarely been described. This paper describes ...
Akgun C - - 2012
Henoch-Schönlein purpura, is one of the most common types of multisystemic vasculitis seen in childhood. The major clinical manifestations are cutaneous purpura, arthritis, abdominal pain, gastrointestinal bleeding, and nephritis. Isolated central nervous system vasculitis, seizures, coma and hemorrhage, Guillan--Barré syndrome, ataxia and central and peripheral neuropathy, ocular involvement, orchitis, epididymitis ...
1 2 3 4 5 6 7 8 9 10 >