Search results for "Frame"
showing 10 items of 1767 documents
Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene
2013
International audience; Fanconi anaemia (FA) is characterized by progressive bone marrow failure, congenital anomalies, and predisposition to malignancy. In a minority of cases, FA results from biallelic FANCD1/BRCA2 mutations that are associated with early-onset leukaemia and solid tumours. Here, we describe the clinical and molecular features of a remarkable family presenting with multiple primary colorectal cancers (CRCs) without detectable mutations in genes involved in the Mendelian predisposition to CRCs. We unexpectedly identified, despite the absence of clinical cardinal features of FA, a biallelic mutation of the FANCD1/BRCA2 corresponding to a frameshift alteration (c.1845_1846del…
Capacity assessment for provision of quality sexual reproductive health and HIV-integrated services in Karamoja, Uganda
2020
Introduction: Sexual and reproductive health (SRH) and Human Immunodeficiency Virus (HIV) are crucial global health issues. Uganda continues to sustain a huge burden of HIV and AIDS.
 Methods: A cross-sectional health facility-based assessment was performed in November and December 2016 in Karamoja Region, northern Uganda. All the 126 health facilities (HFs) in Karamoja, including 5 hospitals and 121 Health Centers (HCs), covering 51 sub-counties of the 7 districts were assessed. We assessed the capacity of a) leadership and governance, b) human resource, c) service delivery, d) SRH and HIV service integration and e) users satisfaction and perceptions.
 Results: 64% of the establi…
Cultural and communicational traits of oral health care: results of a Finnish case study.
2006
This paper aims to describe the cultural and communicational traits of Finnish oral health care. First, employees' views and experiences regarding their organization and their position within it are investigated and, second, relations between different individual and organizational factors are analyzed. Finally, a conceptual framework of organizational coherence is constructed.The paper shows that data collection (n = 58, 84 percent response rate) was carried out in 2002 at a Finnish dental clinic by using a semi-structured questionnaire. The data were analyzed statistically by using, among other things, non-parametric tests and a structural equation model (LISREL) and qualitatively by usin…
Homozygous variants in the gene SCAPER cause syndromic intellectual disability
2019
The S-Phase Cyclin A Associated Protein In The ER (SCAPER) gene is a ubiquitously expressed gene with unknown function in the brain. Recently, biallelic SCAPER variants were described in four patients from three families with retinitis pigmentosa (RP) and intellectual disability (ID). Here, we expand the spectrum of pathogenic variants in SCAPER and report on 10 further patients from four families with ID, RP, and additional dysmorphic features carrying homozygous variants in SCAPER. The variants found comprise frameshift, nonsense, and missense variants as well as an intragenic homozygous deletion, which spans SCAPER exons 15 and 16 and introduces a frameshift and a premature stop codon. A…
Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.
2018
Abstract PHARC (Polyneuropathy, Hearing loss, Ataxia, Retinitis pigmentosa and Cataracts) (MIM# 612674 ) is an autosomal recessive neurodegenerative disease caused by mutations in the ABHD12 gene. We evaluated two Spanish siblings affected with pes cavus, sensorimotor neuropathy, hearing loss, retinitis pigmentosa and juvenile cataracts in whom the genetic test of ABHD12 revealed a novel homozygous frameshift mutation, c.211_223del (p.Arg71Tyrfs*26). The earliest clinical manifestation in these patients was a demyelinating neuropathy manifested with a Charcot-Marie-Tooth phenotype over three decades. Progressive hearing loss, cataracts and retinitis pigmentosa appeared after the age of 30. …
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…
Mentally represented motor actions in normal agingII. The influence of the gravito-inertial context on the duration of overt and covert arm movements
2007
Here, we address the question of whether normal aging influences action representation by comparing the ability of 14 young (age: 23.6 +/- 2.1 years) and 14 older (age: 70.1 +/- 4.5 years) adults to mentally simulate arm movements under a varying dynamic context. We conducted two experiments in which we experimentally manipulated the gravity and inertial components of arm dynamics: (i) unloaded and loaded vertical arm movements, rotation around the shoulder joint, (ii) unloaded and loaded horizontal arm movements, rotations around the shoulder and elbow joints, in two directions (inertial anisotropy phenomenon). The main findings indicated that imagery ability was equivalent between the two…
Prevalence of antibodies to human papillomaviruses in the general population of the Czech Republic.
1998
Sera from 450 individuals between the age of 1 and 80 years, representing the general population of the Czech Republic, were tested for the presence of antibodies to human-papillomavirus(HPV)-derived antigens. The following antigens were used: (i) HPV1 virions; (ii) HPV16, -18 and -33-virus-like particles (VLP); (iii) peptides derived from L2 open reading frames (ORFs) of HPV16 and HPV6/11; (iv) peptides derived from HPV16 E2, E4 and E7 ORFs of HPV16. The prevalence of antibodies reactive with the capsid-derived antigens was age-dependent, while no clear age dependence was observed in the distribution of antibodies to peptides derived from HPV16 early proteins. In individual sera, high corr…
Performing allocentric visuospatial judgments with induced distortion of the egocentric reference frame: an fMRI study with clinical implications
2003
The temporary improvement of visuospatial neglect during galvanic vestibular stimulation (Scand. J. Rehabil. Med. 31 (1999)117) may result from correction of the spatial reference frame distorted by the responsible lesion. Prior to an investigation of the neural basis of this effect in neurological patients, exploration of the neural mechanisms underlying such procedures in normals is required to provide insight into the physiological basis thereof. Despite their clinical impact, the neural mechanisms underlying the interaction of galvanic (and other) vestibular manipulations with visuospatial processing (and indeed the neural bases of how spatial reference frames are computed in man) remai…
Cholinesterase variants: rapid characterisation by PCR/SSCP and evidence for molecular homogeneity.
1995
We have applied the technique of PCR-SSCP (polymerase chain reaction-single stranded conformation polymorphism) to characterise the molecular basis of cholinesterase deficiency and variants in a Jordanian family. PCR-SSCP proved to be a quick and sensitive method of screening cholinesterase variants in a clinical setting. An AG insertion at position 351 was found to cause a silent allele, for which the parents were heterozygous and three children homozygous. In addition, the father and two sons were heterozygous for an A to G transition at position 209, known to cause the dibucaine resistant variant. No linkage to the K variant was found, which has been reported previously in white populati…