Search results for "Pediatric"
showing 10 items of 4528 documents
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…
A Single-Center (Sibiu, Romania), Retrospective Study (March–November 2020) of COVID-19 Clinical and Epidemiological Features in Children
2021
The aim of this study was to describe and analyze epidemiological and clinical features of children screened for COVID-19 at Sibiu Pediatric Clinical Hospital during the first 9 months (March–November) of coronavirus disease pandemic in Romania. A total of 203 pediatric patients with a confirmed diagnosis of COVID-19 were included in the study. The median age of the patients was 121 (IQR 18–181) months and 52.22% had mild clinical type with pneumonia, 35.47% were moderate cases, 3.94% severe cases, 0.99% critically ill cases and 7.39% were asymptomatic. The most common symptoms were fever (n = 130, 64.03%), nasal congestion (n = 138, 67.98%), cough (n = 128, 63.05%) followed by sore throat …
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…
Validity and reliability of the checklist of non-verbal pain indicators in Albanian. First step
2018
Background: in Albania non ci sono strumenti affidabili per valutare la presenza di dolore nei pazienti non-verbalizzanti. L'obiettivo del nostro studio era di fornire una validazione linguistica della checklist in albanese per gli indicatori di dolore non verbale (CNPI). Metodi: dopo la traduzione inversa, abbiamo usato la versione albanese in uno studio trasversale per verificare sia l'affidabilità che la validità di questo strumento in contesti clinici. La Visual Analog Scale è stata adottata come gold standard. Sono stati usati anche il kappa di Cohen e il coefficiente di correlazione di Pearson. La validità costruttiva del CNPI è stata stabilita mediante l'analisi fattoriale esplorativ…
Etiological factors of chronic hepatitis in Italy: a 2014 national survey.
2017
Background The last Italian prevalence survey on chronic hepatitis (CH) conducted in 2001 showed that the hepatitis C virus (HCV) was the main agent associated with CH. Aim The aim of this study was to evaluate epidemiological changes in CH occurring after 13 years. Patients and methods Enrollment of 1392 CH consecutive patients referred to 16 Italian liver units in 2014 scattered all over the country (four in the North, four in the Center, four in the South, and four in the Islands) was performed. Results The mean age of the patients was 58.3 years, with a sex ratio (male/female) of 1.5. HCV infection (also with other etiologies) continues to be the most prevalent etiology (58.1%). However…