Search results for "Infant"
showing 10 items of 3339 documents
Factors associated with poor adherence to MMR vaccination in parents who follow vaccination schedule.
2014
Due to median vaccination coverage far from elimination level, Italy is still an European country with high number of measles cases per million of people. In this study we explored potential socioeconomic, medical and demographic factors which could influence the propensity of family members for measles vaccination schedule. A cross-sectional study was performed through a questionnaire administered to the parents of children who received the first dose of MMR vaccine in two different vaccination centers in the Palermo area from November 2012 to May 2013. Overall, the role played by internet (OR 19.8 P = 0.001) and the large number of children in a family (OR 7.3 P ≤ 0.001) were the factors …
Knowledge and attitudes towards the use of antibiotics in the paediatric age group: a multicenter survey in Italy
2017
Background : The misuse of antibiotics is one of the leading causes of antibiotic resistance. Paediatric patients are highly involved in this issue, as they are those who receive the largest amount of prescriptions of these drugs. Therefore, this study aimed to investigate the general knowledge regarding the use of antibiotics, as well as the attitudes related to the administration of these drugs to children, amongst parents of children in the paediatric age-group. Methods : In 2014, a multicentre cross-sectional study was conducted amongst parents of children aged 0–14. A questionnaire made up of 33 items was administered in waiting rooms of outpatient departments. Multivariable logistic r…
Differential expression of the tumor suppressor A-kinase anchor protein 12 in human diffuse and pilocytic astrocytomas is regulated by promoter methy…
2013
The scaffold protein A-kinase anchor protein 12 (AKAP12) exerts tumor suppressor activity and is downregulated in several tumor entities. We characterized AKAP12 expression and regulation in astrocytomas, including pilocytic and diffusely infiltrating astrocytomas. We examined 194 human gliomas and 23 normal brain white matter samples by immunohistochemistry or immunoblotting for AKAP12 expression. We further performed quantitative methylation analysis of the AKAP12 promoter by MassARRAY® of normal brain, World Health Organization (WHO) grade I to IV astrocytomas, and glioma cell lines. Our results show that AKAP12 is expressed in a perivascular distribution in normal CNS, strongly upregula…
Effectiveness of Toki s criteria and determination of variables for identification of HPV L1 protein in oral lesions
2013
Objectives: To evaluate the effectiveness of Toki's criteria in identifying the HPV L1 protein in oral lesions with the use of immunohistochemistry (IHC) and to determine which criteria optimize such identification. Study Design: Retrospective study of 277 cases diagnosed as HPV lesions at 22 years. Tests of sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), kappa coefficients, and chi 2 values, as well as two logistic regression analyses ( (p≤0.05), were conducted. Results: Of the lesions studied, 96.4% (267 of 277) were positive for HPV using Toki's criteria and 28.5% (79 of 277) were positive for L1 by IHC. Toki's criteria showed sensitivity=93.67…
Development and validation of a method of cilia motility analysis for the early diagnosis of primary ciliary dyskinesia.
2011
Background: Primary ciliary dyskinesia (PCD) is a clinically uniform entity, but cilia motility and structure can vary between patients, making the diagnosis difficult. The aim of this study was to evaluate the sensitivity and specificity in diagnosing PCD of a system of high-resolution digital high-speed video analysis with proprietary software that we developed for analysis of ciliary motility (Desinsoft-Bio 200). The secondary aim was to correlate nasal ciliary activity with clinical and structural abnormalities in PCD. Material and methods: We analysed nasal mucociliary transport, cilia ultrastructure, nasal ciliary beat frequency and beat pattern studied by high-resolution digital high…
Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin.
2003
We present comparisons of the clinical pictures in a series of 60 patients with nemaline myopathy in whom mutations had been identified in the genes for nebulin or skeletal muscle alpha-actin. In the patients with nebulin mutations, the typical form of nemaline myopathy predominated, while severe, mild or intermediate forms were less frequent. Autosomal recessive inheritance had been verified or appeared likely in all nebulin cases. In the patients with actin mutations, the severe form of nemaline myopathy was the most common, but some had the mild or typical form, and a few showed other associated features such as intranuclear rods or actin accumulation. Most cases were sporadic, but in ad…
Ultrastructural patterns of primary ciliar dyskinesia syndrome.
2005
Clinical presentation, ciliary ultrastructure, and nasal mucociliary transport by a radioisotopic technique were analyzed in 14 Kartagener syndrome patients. In this study the most common pattern was the absence of outer and inner dynein arms in 57% of cases. Also reported are 14% patients with short inner dynein arms. A total of 29% of the patients showed normal dynein arms. Mucociliary stasis was observed in 13 cases. Primary ciliary dyskinesia syndrome and Kartagener syndrome are clinically homogeneous and morphologically heterogeneous. The authors conclude that a typical clinical presentation with an altered mucociliary transport obtained by radioisotopic technique is diagnostic althoug…
Odontogenic tumors : a retrospective study of four Brazilian diagnostic pathology centers
2011
Objective: This article presents the results of a retrospective study of the frequency and classification of odontogenic tumors recorded at four centers of diagnostic pathology in Rio de Janeiro, Brazil. Study Design: All medical records and microscopic slides of odontogenic tumor specimens for the years 1997 to 2007 were retrieved from the files of four services of diagnostic pathology in Rio de Janeiro City. Diagnoses were re-evaluated and the tumors classified according to the latest (2005) World Health Organization Classification of Tumors. Results: A total of 201 odontogenic tumors were found among 15,758 oral biopsies (1.3%). The frequencies of these tumors at the four centers ranged …
Differentiation in medulloblastomas: correlation between the immunocytochemical demonstration of photoreceptor markers (S-antigen, rod-opsin) and the…
1989
Biopsy specimens of 66 medulloblastomas were investigated by means of S-antigen and rod-opsin immunocytochemistry. The patients were operated between 1969 and 1988 and the medical records were retrospectively evaluated to correlate the immunocytochemical features of the tumors to the course of the disease. S-antigen- and rod-opsin-immunoreactive tumor cells were found in 19 out of 66 cases. Since in the normal non-neoplastic state immunoreactive S-antigen and rod-opsin are restricted to retinal photoreceptors and a class of pinealocytes derived from photoreceptor cells, the occurrence of these proteins in certain tumor cells of medulloblastomas suggests a differentiation of these cells alon…
Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis
2013
Congenital poikiloderma is characterized by a combination of mottled pigmentation, telangiectasia, and epidermal atrophy in the first few months of life. We have previously described a South African European-descent family affected by a rare autosomal-dominant form of hereditary fibrosing poikiloderma accompanied by tendon contracture, myopathy, and pulmonary fibrosis. Here, we report the identification of causative mutations in FAM111B by whole-exome sequencing. In total, three FAM111B missense mutations were identified in five kindreds of different ethnic backgrounds. The mutation segregated with the disease in one large pedigree, and mutations were de novo in two other pedigrees. All thr…