Search results for "Pediatrics"
showing 10 items of 3912 documents
Analysis of weight gain composition determined in preterm infants with Dual energy x-ray absorptiometry (DXA)
1999
Analysis of weight gain composition determined in preterm infants with Dual energy x-ray absorptiometry (DXA)
A controlled trial of intra-articular corticosteroids with or without methotrexate in oligoarticular juvenile idiopathic arthritis
2014
In contrast with the numerous controlled trials conducted in polyarticular or systemic juvenile idiopathic arthritis (JIA), little evidence-based information is available for oligoarticular JIA. As a result, the management of children with this subtype, which is the most prevalent in Western countries, is largely empiric. Intra-articular corticosteroid (IAC) injection is the therapy of first choice for oligoarthritis in many pediatric rheumatology centers. However, although IAC injections are usually highly efficacious, relapses of synovitis are common and sometimes occur only a few months after the procedure. It is still unclear whether concomitant administration of methotrexate (MTX) may …
The revised ghent nosology; reclassifying isolated ectopia lentis
2014
Inherited ectopia lentis (EL) is most commonly caused by Marfan syndrome (MFS), a multisystemic disorder caused by mutations in FBN1. Historically the diagnosis for patients with EL who have no systemic features of MFS is isolated EL (IEL). However, the Ghent nosology for MFS was updated in 2010 and made some important alterations. In particular, patients with EL and a FBN1 mutation are now categorically diagnosed with MFS, if their mutation has previously been described with aortic dilation/dissection. This carries significant systemic implications, as many patients previously diagnosed with IEL are now reclassified. We provide a review of all published cases of IEL caused by FBN1 mutation…
Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis
2009
Abstract Background Undiagnosed patients with the attenuated form of mucopolysaccharidosis (MPS) type I often have joint symptoms in childhood that prompt referral to a rheumatologist. A survey conducted by Genzyme Corporation of 60 European and Canadian rheumatologists and pediatric rheumatologists demonstrated that Bone and joint manifestations are prominent among most patients with MPS disorders. These life-threatening lysosomal storage diseases are caused by deficient activity of specific enzymes involved in the degradation of glycosaminoglycans. Patients with attenuated MPS disease often experience diagnostic delays. Enzyme replacement therapy is now commercially available for MPS I (l…
Hearing loss in facioscapulohumeral dystrophy.
1986
Bilateral sloping high frequency hearing loss of 20–90 dB was found in six out of ten patients with infantile or adolescent onset FSHD. In all cases the basic defect could be traced to the cochlea. The outer hair cells of the basal turn are predominantly affected. In 20 patients with various other forms of muscular dystrophy or neuromuscular disorders with an FSH distribution, no sensorineural hearing loss was found. Myopathology of FSHD patients extended from mild to severe, often showing inflammatory infiltrates and type I fibre atrophy, without unequivocal differences between the two groups with and without hearing loss. It is concluded that cochlear dysfunction is a specific and frequen…
Levetiracetam‐induced pediatric toxic epidermal necrolysis successfully treated with etanercept
2020
Successful management of toxic epidermal necrolysis (TEN) with tumor necrosis factor-α inhibitors has been described in adults, but few cases have been reported in children. To date, only four pediatric cases of TEN treated with infliximab and one with etanercept have been published. We present the case of an 8-year-old boy diagnosed with TEN induced by levetiracetam, successfully treated with etanercept, systemic corticosteroids, and intravenous immunoglobulin.
Immune-mediated rippling muscle disease with myasthenia gravis: a report of seven patients with long-term follow-up in two.
2009
We report seven patients with immune-mediated rippling muscle disease (iRMD) and AChR-antibody positive myasthenia gravis (MG) without germline caveolin-3 gene mutations. We describe the follow-up of two patients and the clinical features of five new patients (1 female, 4 male, aged 32 to 69 years). These presented with significant generalized, exercise-induced and electrically-silent muscle rippling with myalgia, combined with generalized MG. In two of the seven patients, MG appeared before iRMD. Mediastinal imaging excluded thymic alterations in all, although two had other coincident tumours. Myalgia and rippling were aggravated by acetylcholinesterase-inhibitor treatment. Generalized MG …
Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entity.
2010
A novel myopathy characterized by hexagonally cross-linked tubular arrays has been reported in five patients. We studied the clinical and histopathological features of five additional unrelated patients with this myopathy. Patients experienced exercise intolerance with exercise-induced myalgia and weakness, without rhabdomyolysis. One patient additionally presented mild permanent pelvic girdle muscle weakness. Age at onset varied between 13 and 56 years. The inclusions were eosinophilic on H and E, bright red with modified Gomori’s trichrome stains, present in type 2 fibers, and revealed immunoreactivity selectively for a caveolin-3-antibody. Ultrastructurally, the inclusions showed a highl…
Fourth case of louse-borne relapsing fever in Young Migrant, Sicily, Italy, December 2015. Mini Review Article
2016
Abstract Objectives Currently louse-borne relapsing fever (LBRF) is primarily found in limited endemic foci in Ethiopia, Somalia and Sudan; no case of imported LBRF has been reported in Europe in the 9 years prior to 2015. The aim of our paper is to describe a new case of imported LBRF detected in Sicily, Italy, and to review all cases reported in migrants arrived in Europe in the last 10 years. Study design Mini review of all published cases of louse-borne relapsing fever in Europe in the last 10 years. Methods A computerized search without language restriction was conducted using PubMed combining the terms ‘(louse-borne relapsing fever or LBRF or recurrentis) and (refugee or Europe or mig…
Otyłość u nastolatków – powikłania pojawiają się już w dzieciństwie
2023
W ostatnich latach otyłość stała się powszechną chorobą cywilizacyjną, z którą zmagają się osoby w każdym wieku, w tym dzieci i młodzież. Powikłania otyłości pojawiają się już w dzieciństwie i dotyczą m.in. układu sercowo-naczyniowego, układu kostno-stawowego oraz zdrowia psychicznego. U osób chorujących na otyłość zwiększa się ryzyko zaburzeń depresyjnych. Obraz i przebieg kliniczny otyłości są bardzo różnorodne, a pacjenci często zmagają się z odmiennymi powikłaniami i konsekwencjami. Pracownicy ochrony zdrowia, w tym w szczególności lekarze pediatrzy, poza umiejętnością prawidłowego rozpoznawania i leczenia otyłości powinni przede wszystkim wdrażać profi laktykę przez powszechną i profes…