Search results for "School."
showing 10 items of 4295 documents
Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome.
2012
Background: Rubinstein-Taybi syndrome (RSTS) is a congenital neurodevelopmental disorder defined by postnatal growth deficiency, characteristic skeletal abnormalities and mental retardation and caused by mutations in the genes encoding for the transcriptional co-activators with intrinsic lysine acetyltransferase (KAT) activity CBP and p300. Previous studies have shown that neuronal histone acetylation is reduced in mouse models of RSTS. Methods: The authors identified different mutations at the CREBBP locus and generated lymphoblastoid cell lines derived from nine patients with RSTS carrying distinct CREBBP mutations that illustrate different grades of the clinical severity in the spectrum …
Clinical profile of orofacial infections: an experience from two primary care dental practices
2012
Objectives: Orofacial infections are common reasons for dental consultations worldwide. However, there is scarcity of data on clinico-epidemiological profiles reported from primary care dental practices. To address this issue, a study was done to characterize the clinical pattern, age groups affected and sex predilection of orofacial infections in the primary care dental practice. Study design: Clinical data was evaluated from random electronic files of patients for whom antimicrobials were prescribed at two Dental Practices in UK between January 2009 and December 2010. Results: 200 case records were studied. 104 (52%) cases were females. Mean age was 37.2 (+/-15.1) years. 107 (53.5%) cases…
Visiting Friends and Relatives (VFRs) travelers and imported malaria in the Palermo district (Sicily).
2014
Abstract Introduction. Although Italy has been malaria-free since 1970, the infection is commonly introduced into the country by travelers and immigrants from endemic areas. The term VFRs refers to immigrants from malaria-endemic countries who are regularly resident in a malaria-free area, and who travel to their countries of origin to visit friends and relatives (VFRs). This group is at special risk of malaria as they are unaware of having lost their transitory immunity to the disease. Methods. We conducted a retrospective study at the International Travelers Department of Palermo (Italy), examining records of malaria cases (67) reported over the period from 1998 to 2013. Results. VFRs rep…
Calcification patterns of the internal elastic membrane
1969
Calcification patterns of the internal elastic membrane of the main pelvic arteries, lower limb arteries, brachial, splenic and renal arteries were demonstrated grossly by a modified von Kossa technique. In the elastic segment in the common and internal iliac arteries, the membrane calcification appeared as groups of roundish or polygonal incrustations. They were found frequently in newborns, and were always present in infants of more than three months, as well as in adults. In the muscular arteries, the calcified parts of the internal elastic membrane appeared grossly as pairs of bands (“calcific bands”) along the edges of the pre-existing gaps in this membrane. When calcification was pron…
Establishment of standardised SLA/LP immunoassays: specificity for autoimmune hepatitis, worldwide occurrence, and clinical characteristics
2002
Background: Antibodies to soluble liver antigen/liver pancreas (SLA/LP) are specific markers of autoimmune hepatitis. Their target antigen has recently been cloned. Aims: To establish standardised immunoassays using the recombinant antigen, and to assess the frequency and significance of seropositivity in patients from different countries. Methods: An enzyme linked immunoassay was developed using purified recombinant antigen and validated by testing sera from 200 healthy blood donors and 1026 patients with various liver and non-liver diseases. The assay was then applied to 454 sera from 419 patients with autoimmune hepatitis from different countries. All sera were also tested by inhibition …
A comprehensive multicomponent school-based educational intervention did not affect fruit and vegetable intake at the 14-year follow-up
2019
Abstract The intake of fruit and vegetables is associated with beneficial health outcomes, and studies aimed at increasing fruit and vegetable intake lack long-term follow-up. The primary objective of this study was to evaluate the long-term (14-year) effects of a multicomponent school-based educational intervention targeted to increase fruit and vegetable intake in children. The secondary objective was to evaluate the potential synergistic effect between free school fruit and the educational program. A cluster randomized school-based intervention was initiated in 2001 in Norway, known as the Fruit and Vegetable Make the Marks study. In total, 38 schools were randomized; for the interventio…
Unusual clinical variants of cutaneous leishmaniasis in Sicily
2009
Background The term “leishmaniasis” defines a group of vector-borne diseases caused by species of the genus Leishmania and characterized by a spectrum of clinical manifestations. Parasite properties (infectivity, pathogenicity, virulence), host factors, and host responses regulate heterogeneous disease expression. Sicily is one of the major islands of the Mediterranean Basin and is considered to be a hypo-endemic area for cutaneous leishmaniasis. Leishmania infantum is the most common species on the island. Methods Fifty patients (both sexes and different ages) with lesions clinically suggestive of cutaneous leishmaniasis were recorded over a 1-year period. The diagnosis was based on posi…
Phenotype associated with TAF2 biallelic mutations: a clinical description of four individuals and review of the literature
2021
International audience; Transcription factor IID is a multimeric protein complex that is essential for the initiation of transcription by RNA polymerase II. One of its critical components, the TATA-binding protein-associated factor 2, is encoded by the gene TAF2. Pathogenic variants of this gene have been shown to be responsible for the Mental retardation, autosomal recessive 40 syndrome. This syndrome is characterized by severe intellectual disability, postnatal microcephaly, pyramidal signs and thin corpus callosum. Until now, only three families have been reported separately. Here we report four individuals, from two unrelated families, who present with severe intellectual disability and…
Molecular analysis of Gaucher disease: distribution of eight mutations and the complete gene deletion in 27 patients from Germany
1997
Gaucher disease is the most common lysosomal storage disease with a high prevalence in the Ashkenazi Jewish population but it is also present in other populations. The presence of eight mutations (1226G, 1448C, IVS2+1. 84GG, 1504T, 1604T, 1342C and 1297T) and the complete deletion of the beta-glucocerebrosidase gene was investigated in 25 unrelated non-Jewish patients with Gaucher's disease in Germany. In the Jewish population, three of these mutations account for more than 90% of all mutated alleles. In addition, relatives of two patients were included in our study. Restriction fragment length polymorphism analysis and sequencing of PCR products obtained from DNA of peripheral blood leukoc…
Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies
2012
Contains fulltext : 110038.pdf (Publisher’s version ) (Closed access) Potocki-Shaffer syndrome (PSS) is a contiguous gene disorder due to the interstitial deletion of band p11.2 of chromosome 11 and is characterized by multiple exostoses, parietal foramina, intellectual disability (ID), and craniofacial anomalies (CFAs). Despite the identification of individual genes responsible for multiple exostoses and parietal foramina in PSS, the identity of the gene(s) associated with the ID and CFA phenotypes has remained elusive. Through characterization of independent subjects with balanced translocations and supportive comparative deletion mapping of PSS subjects, we have uncovered evidence that t…