1,720,991 research outputs found
Delayed reactivation of chronic infantile neurologic, cutaneous, articular syndrome (CINCA) in a patient with somatic mosaicism of CIAS1/NLRP3 gene after withdrawal of anti-IL-1 beta therapy
No full textN/
A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation
No full textPurpose: Lymphedema-Distichiasis (LD, OMIM 153400) is an autosomal dominant disorder with variable expression. The mutated gene implicated is FOXC2, which encodes for a forkhead transcription factor involved in the development of the lymphatic and vascular system. LD is characterized by late childhood or pubertal onset lymphedema of the limbs and distichiasis. Other associations have been reported, including congenital heart disease, ptosis, scoliosis.
Conclusions: Here we describe a case of LD carrying a de novo frameshift mutation of FOXC2 who presented a prepubertal onset of lower limbs lymphedema and mild distichiasis associated with other anomalies such as webbing neck and ptosis
Aftosi orale ricorrente: una, nessuna, centomila
No full textRecurrent aphthous stomatitis (RAS) (also referred as aphthae or canker sores) is a common disorder affecting up to 60-70% of the general population at any time. Usually, RAS is a well-defined clinical condition (recurrent painful ulcers confined to the mouth, in the absence of systemic disease, with spontaneous resolution in few days) and as a rule it is easily recognized (and accepted as paraphysiological) by the patient. Nevertheless, other aphthous lesions may resemble but are different from RAS. Additional clinical signs (i.e. fever) should be valued since they lead to exclude RAS by definition and impose to suspect
some other disorders. This article proposes a review of the etiopathogenesis, differential diagnosis and management of RAS in primary care
Serum amyloid protein A concentration in cryopyrin-associated periodic syndromes patients treated with interleukin-1 beta antagonist
No full textCryopyrin-associated periodic syndromes (CAPS) are a group of chronic, relapsing autoinflammatory disorders which may be complicated by systemic AA amyloidosis. The aim of our study was to evaluate serum amyloid protein A (SAA) level in CAPS patients treated with Interleukin-1beta (IL-1β) antagonist and to correlate its level with treatment response
La porpora di Schoenlein-Henoch
No full textHenoch-Schönlein purpura (HSP) is the most common vasculitic disease of childhood. HSP is a multisystem immunoglobulin A-mediated vasculitis with a self-limited course usually affecting the skin, joints, gastrointestinal tract, and kidneys. HSP occurs most often in children before the age of 10 years, and classically presents with a unique distribution of the rash to the lower extremities and the buttocks. One third of these patients will have one or more recurrences of symptoms, usually within 6 weeks, but they may occur as late as 18 months later. The overall prognosis in HSP is excellent, but the long-term morbidity depends mainly on the renal involvement. In our opinion, actually, there are no data to recommend the routine use of corticosteroids in the management of uncomplicated HSP, in both
the acute and chronic settings
Prompt efficacy of plasmapheresis in a patient with systemic lupus erythematosus and diffuse alveolar haemorrhage
No full textA 13-year-old girl, was admitted in the Paediatric Department of our Institute four months after the diagnosis of systemic lupus erythematosus (SLE), in poor general condition with fever, pallor, peripheral oedema, tachycardia, dyspnea and hemoptysis. Diffuse alveolar haemorrhage (DAH) in
multiorgan SLE was diagnosed. The patient was initially treated with intravenous (i.v.) antibiotic, antiviral and antifungal therapy, pulse intravenous metilprednisolone i.v. (1 g/day for 5 days) and cyclophosphamide (1g), without significant benefit. She was then administered 3 courses of rituximab, with some clinical improvement and mild increase of Hb level . The girl was discharged on oral steroid therapy
After one week, she was readmitted with poor general condition, severe dyspnea, pallor, low peripheral oxygen saturation (78%); Hb level was 4 g/dl. We decided to perform blood transfusions and plasmapheresis. After three plasmapheresis, we finally obtained persistant clinical remission. We suggest that plasmapheresis should be considered promptly as an effective treatment in this condition, in association with immunosuppressive treatment
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Variations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
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