Search results for "and Child Health"
showing 10 items of 1781 documents
Subclinical optic neuropathy in Fabry disease.
2009
Fabry disease is a rare X-linked lysosomal storage disorder, caused by the deficiency of alpha-galactosidase A. Ophthalmic features comprise a cornea verticillata, conjunctival aneurysms, tortuous conjunctival and/or retinal vessels, and anterior and posterior subcapsular cataracts. The issue of a possible subclinical optic neuropathy in Fabry disease has been raised recently. In this pilot study, we looked for signs of optic neuropathy in our cohort of Fabry patients.Thirty-one Fabry patients (15 male, 16 female, mean age 34 years) underwent an ophthalmological investigation consisting of assessment of best corrected visual acuity, slit lamp investigation, testing of pupillary reaction, fu…
Immunosuppressive treatment of rippling muscles in patients with myasthenia gravis
2000
Rippling muscle disease is a rare autosomal dominant disorder that may occur sporadically. In this report two patients presenting with rippling muscles followed by myasthenia gravis are described. Our first patient developed rippling muscles about 1 month after infection with Yersinia enterocolitica. Two years later myasthenia gravis appeared. Our second patient had a 2-year history of asthma prior to the onset of rippling muscles which preceded the myasthenic symptoms by 4-8 weeks. Acetylcholine receptor and anti-skeletal muscle antibody titers were positive in both patients. In both patients the rippling phenomena worsened with pyridostigmine treatment but markedly improved after immunosu…
Etoposide Treatment in Recurrent Medulloblastoma
1994
Five consecutive patients with recurrent medulloblastoma received etoposide 120 mg/m2 for 5 to 7 days at 2 to 4-week intervals. Three patients with neuroaxis dissemination received additional intrathecal chemotherapy with methotrexate, cytosine arabinoside and prednisone. Toxicity consisted of alopecia and mild neutropenia. Complete response was registered in two patients, partial response in one. Median survival was 19 months with the 3 responders living 6, 30 and 60+ months. Etoposide seems to be an active agent in medulloblastoma.
Immunogenicity and safety of human papillomavirus-16/18 AS04-adjuvanted vaccine administered according to an alternative dosing schedule compared wit…
2011
BACKGROUND: The human papillomavirus (HPV)-16/18 AS04-adjuvanted vaccine is immunogenic, has a clinically acceptable safety profile, and prevents incident and persistent HPV-16/18 infection and cervical precancerous lesions. This study (NCT00552279) evaluated the vaccine when administered according to an alternative dosing schedule (0-1-12 months) compared with the standard dosing schedule (0-1-6 months). METHODS: The study was of randomized open design and was conducted at multiple centers in Europe. Healthy women aged 15 to 25 years were randomized (1:1) to receive HPV-16/18 vaccine according to the standard schedule at months 0, 1, and 6 (n = 401) or an alternative schedule at months 0, …
Blood flow velocity waveforms of the fetal middle cerebral artery in a normal population: reference values from 18 weeks to 42 weeks of gestation
2002
The aim of this prospective cross-sectional study was to establish new Doppler reference curves for peak blood flow velocities (Vmax, Vmean, Vmin) and impedance indices (PI, RI) of the middle cerebral artery at 18-42 weeks of gestation by an automatic wave form analysis integrated into the ultrasound device. In 962 low-risk pregnancies, blood flow velocities were derived from the middle cerebral artery with pulsed color Doppler ultrasonography. Reference curves were constructed for the individual parameters based on a growth function from a four-parameter class of monotonic continuous functions according to the smallest square principle for maximum blood flow velocities, as well as on a pol…
A genome-wide association study of monozygotic twin-pairs suggests a locus related to variability of serum high-density lipoprotein cholesterol
2012
Serum lipid levels have been associated with cardiovascular diseases, metabolic syndrome and type II diabetes (Kannel et al., 1961; Miller & Miller, 1975; Pilia et al., 2006). Variation in lipids levels is highly influenced by heritable factors (Friedlander et al., 1997) and 95 loci have already been associated with levels of high density lipoprotein (HDL) cholesterol, low density lipoprotein (LDL) cholesterol, triglycerides (TG) and total cholesterol (TC) in numerous study samples and replicated in various populations using genome-wide approaches (Aulchenko et al., 2008; Kathiresan et al., 2008; Kooner et al., 2008; Teslovich et al., 2010; Willer et al., 2008). However, the genetic associa…
Access to an online video enhances the consent process, increases knowledge, and decreases anxiety of caregivers with children scheduled for inguinal…
2019
Abstract Background There is limited time within the clinical workflow of most pediatric surgeons to obtain a comprehensive, well informed consent. This study evaluates whether ad-lib access to an online video on the consent dialogue enhances the consent process for inguinal hernia repair (IHR) in children. Methods The study was approved by the state ethics board. A 6-min video of a consent speech on IHR was produced and uploaded to a nonpublic online channel, explaining the condition, procedure, complications, and postoperative expectations. A total of 50 families were randomized to conventional, face-to-face consenting in clinic either with (intervention) or without (control) access to th…
A case of lipogranulomatosis Farber: some clinical and ultrastructural aspects
1985
A 20-month-old girl showed typical clinical signs of Farber disease: hoarseness since birth, and periarticular subcutaneous painful nodules. Complete deficiency of acid ceramidase activity was found in cultured skin fibroblasts. An electron microscopic examination of a dermal nodule disclosed pathognomonic tubular inclusions in histiocytes. In epidermal cells zebra-body-like and needle-like lysosomal inclusions were found. Their ultrastructure is different from that of the intrahistiocytic lysosomal inclusions. Probably three clinical types of Farber disease may be distinguished according to the symptomatology and the course of the disease: a severe type, an intermediate type and a relative…
Morphologic diagnosis in neuronal ceroid lipofuscinosis.
1997
Morphologic pathology in NCL is marked by two processes, the interaction of which has not yet been completely clarified: 1) degeneration of nerve cells, foremost in the cerebral cortex, resulting in considerable cerebral atrophy in early childhood forms, likely responsible for clinical and neuroradiological findings; 2) widespread accumulation of autofluorescent lysosomal lipopigments of varying ultrastructure, the demonstration of which is still largely responsible for diagnostic recognition of an individual patient's NCL. Numerous tissues and organs are available for biopsy, among them brain (historical), rectum (still favoured by some), skeletal muscle and peripheral nerves (largely by c…
What’s the name? Weight stigma and the battle against obesity
2020
AbstractChildhood obesity has spread worldwide, it is on the rise, starts earlier and is more severe, despite all treatment attempts.According to recent studies, weight stigma is a factor that can hinder the success of therapies. Healthcare workers, mainly paediatricians, need to feel the urgency of anti-stigma training. The use of non-stigmatizing terminologies and images in various areas (school, sports clubs, healthcare, media, society in general) can improve disease management.