Search results for "Child health."
showing 10 items of 1822 documents
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.
Prospective sonographic detection of spina bifida at 11–14 weeks and systematic literature review
2015
Objective: To conduct a literature review to assess the effectiveness of first trimester ultrasonographic markers of spina bifida (SB) integrating data with our prospective experience. Methods: The analysis of the SB cases that we prospectively detected in the first trimester, between January 2012 and February 2014, and a systematic review of all the papers evaluating the effectiveness of SB ultrasonographic markers at 11–14 weeks, namely brain stem diameter (BS), fourth ventricle/intracranial translucency (IT), cisterna magna (CM), brain stem/occipital bone distance (BSOB), the ratio between BS and BSOB. Some studies assess only the effectiveness of IT, others include more parameters, and …
Variations in breastfeeding rates for very preterm infants between regions and neonatal units in Europe: results from the MOSAIC cohort
2010
Abstract: Objectives To compare breastfeeding rates at discharge for very preterm infants between European regions and neonatal units, and to identify characteristics associated with breast feeding using multilevel models. Methods Population-based cohort of 3006 very preterm births (2231 weeks of gestation) discharged home from neonatal units in eight European regions in 2003. Results Breastfeeding rates varied from 19% in Burgundy to 70% in Lazio, and were correlated with national rates in the entire newborn population. Women were more likely to breast feed if they were older, primiparous and European; more premature, smaller and multiple babies or those with bronchopulmonary dysplasia wer…
Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements.
2003
In individuals with non-neuronopathic Gaucher disease, childhood manifestations are usually predictive of a more severe phenotype. Although children with Gaucher disease are at risk of irreversible disease complications, early intervention with an optimal dose of enzyme therapy can prevent the development of complications and ensure adequate, potentially normal, development through childhood and adolescence. Very few, if any, children diagnosed by signs and symptoms should go untreated. Evidence suggests that disease severity, disease progression and treatment response in different organs where glucocerebroside accumulates are often non-uniform in affected individuals. Therefore, serial mon…
Late mortality among survivors of childhood acute lymphoblastic leukemia diagnosed during 1971–2008 in Denmark, Finland, and Sweden: A population‐bas…
2021
Objective: Investigate all-cause and cause-specific late mortality after childhood acute lymphoblastic leukemia (ALL) in a population-based Nordic cohort. Methods: From the cancer registries of Denmark, Finland, and Sweden, we identified 3765 five-year survivors of ALL, diagnosed before age 20 during 1971–2008. For each survivor, up to five matched comparison subjects were randomly selected from the general population (n = 18,323). Causes of death were classified as relapse related, health related, and external. Late mortality was evaluated by cumulative incidences of death from 5-year survival date. Mortality hazard ratios (HR) were evaluated with Cox proportional models. Results: Among th…
Anti-rotavirus Antibodies in Human Milk
2006
To analyze anti-rotavirus antibodies in human milk in order to determine their isotypes and neutralizing activity on rotavirus strains representing different viral serotypes.One hundred seventy-three milk samples (65 colostrum, 55 transitional milk and 53 mature milk) obtained from 65 mothers were analyzed along with 49 serum samples collected just before delivery. Total immunoglobulin A (IgA) and rotavirus-specific IgA and immunoglobulins G (IgG) antibodies were determined in milk and serum by enzyme-linked immunosorbent assay. Neutralizing activity was evaluated by an immunoperoxidase focus reduction assay. Milk IgA was purified by binding to the lectin jacalin, elution and ultrafiltratio…
Fetal akinesia caused by a novel actin filament aggregate myopathy skeletal muscle actin gene (ACTA1) mutation.
2010
We report a female newborn, diagnosed with fetal akinesia in utero, who died one hour after birth. Post-mortem muscle biopsy demonstrated actin-filament myopathy based on immunolabelling for sarcomeric actin, and large areas of filaments, without rod formation, ultrastructurally. Analysis of DNA extracted from the muscle disclosed a novel de novo heterozygous c.44G>A, GGC>GAC, 'p.Gly15Asp' mutation in the ACTA1 gene. Analysis of the location of the mutated amino-acid in the actin molecule suggests the mutation most likely causes abnormal nucleotide binding, and consequent pathological actin polymerization. This case emphasizes the association of fetal akinesia with actin-filament myopathy.
Primary cutaneous lymphomas in children: A prospective study from the Spanish Academy of Dermatology and Venereology (AEDV) Primary Cutaneous Lymphom…
2021
Background/Objectives Primary cutaneous lymphomas are rare in pediatric patients. The clinical and histopathological manifestations may differ from those in adults. Due to their low frequency and the insidious clinical picture, the diagnosis is usually delayed. The Spanish Primary Cutaneous Lymphoma Registry was initiated in 2016 as a multicenter registry that would allow better insight into the epidemiological, clinical, histopathological, and treatment response characteristics of patients with primary cutaneous lymphomas. Methods We conducted a prospective observational cohort study of primary cutaneous lymphomas in pediatric patients participating in the Spanish Academy of Dermatology an…