scholarly journals Presence of the topic Xeroderma Pigmentoso in scientific articles published between 2003 and 2018

2020 ◽  
pp. 127-134
Author(s):  
Danilo José Silva Moreira ◽  
Juliana Brito da Fonseca ◽  
Karoline Rossi ◽  
Suzana dos Santos Vasconcelos ◽  
Vinicius Faustino Lima de Oliveira ◽  
...  
Keyword(s):  
Rare Disease ◽  
21St Century ◽  
Genetic Disease ◽  
Xeroderma Pigmentosum ◽  
Recessive Character ◽  
Rare Genetic Disease ◽  
Publication Rates ◽  
Selection Of

Xeroderma pigmentosum (XP) is a rare genetic disease, of autosomal and recessive character, and may affect both sexes, regardless of race, and often one case per 250,000 people. This disease has several other symptoms that present themselves heterogeneously over its carriers. The aim of this article was to quantitatively analyze the presence of the topic Xeroderma pigmentoso in scientific articles published between 2003 and 2018. In the identification, a total of 674 results were obtained. The follow-up of the following steps allowed, in the end, the selection of 24 papers. Regarding the language, most of the selected papers were written in Portuguese (around 58.33%), the rest in English (around 41.67%). The highest publication rates occurred between 2015 and 2017 (13%). The years 2007, 2007, 2011, 2014 and 2018 presented intermediate rates (9%) and the lowest rates (4%) occurred in 2003, 2008, 2010 and 2012, and 75% papers were published/presented in the 2nd decade of the 21st century, while the others (25%) were in the 1st decade of the 21st century. The findings of this study showed that there are few scientific studies on XP because it is a rare disease, which possibly leads to few investments in this area, especially with regard to treatment and medications.

scholarly journals Health and the Value of Inheritance: The meanings surrounding a rare genetic disease

2015 ◽  
Vol 12 (1) ◽  
pp. 109-140
Author(s):  
Waleska de Araújo Aureliano
Keyword(s):  
Rare Disease ◽  
Genetic Disease ◽  
Rio De Janeiro ◽  
Genetic Inheritance ◽  
Medical Progress ◽  
Rare Genetic Disease ◽  
The Family ◽  
Machado Joseph Disease

In this article I explore the meanings acquired by the notion of 'genetic inheritance' for families in Rio de Janeiro affected by a rare hereditary disorder, Machado-Joseph disease. My analysis examines three points: 1) how experience of the disease was thematized in the family prior to knowledge of its genetic and hereditary origin; 2) how knowledge of genetics affected the family's perception of their health and reproduction through the notion of risk contained in medical explanations; 3) finally, I problematize the meanings of 'hope,' a sentiment frequently cited by people with the disease and their descendants. Notably, despite the high value attributed to science and 'medical progress,' the use of certain biotechnologies is not always seen as positive or capable of enabling choices and actions in response to a rare disease. Notions of risk, responsibility and hope thus acquire singular contours for managing life and the continuity of the family.

scholarly journals Client Service Receipt Inventory as a standardised tool for measurement of socio-economic costs in the rare genetic disease population (CSRI-Ra)

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Claudia C. Y. Chung ◽  
Jasmine L. F. Fung ◽  
Adrian C. Y. Lui ◽  
Marcus C. Y. Chan ◽  
Yvette N. C. Ng ◽  
...  
Keyword(s):  
Focus Group ◽  
Rare Disease ◽  
Genetic Disease ◽  
Genetic Diseases ◽  
Face Validity ◽  
Economic Evaluations ◽  
Semantic Equivalence ◽  
Client Service Receipt Inventory ◽  
Rare Genetic Disease ◽  
Near Term

AbstractThe measurement of costs is fundamental in healthcare decision-making, but it is often challenging. In particular, standardised methods have not been developed in the rare genetic disease population. A reliable and valid tool is critical for research to be locally meaningful yet internationally comparable. Herein, we sought to develop, contextualise, translate, and validate the Client Service Receipt Inventory for the RAre disease population (CSRI-Ra) to be used in cost-of-illness studies and economic evaluations for healthcare planning. Through expert panel discussions and focus group meetings involving 17 rare disease patients, carers, and healthcare and social care professionals from Hong Kong, we have developed the CSRI-Ra. Rounds of forward and backward translations were performed by bilingual researchers, and face validity and semantic equivalence were achieved through interviews and telephone communications with focus group participants and an additional of 13 healthcare professional and university students. Intra-class correlation coefficient (ICC) was used to assess criterion validity between CSRI-Ra and electronic patient record in a sample of 94 rare disease patients and carers, with overall ICC being 0.69 (95% CI 0.56–0.78), indicating moderate to good agreement. Following rounds of revision in the development, contextualisation, translation, and validation stages, the CSRI-Ra is ready for use in empirical research. The CSRI-Ra provides a sufficiently standardised yet adaptable method for collecting socio-economic data related to rare genetic diseases. This is important for near-term and long-term monitoring of the resource consequences of rare diseases, and it provides a tool for use in economic evaluations in the future, thereby helping to inform planning for efficient and effective healthcare. Adaptation of the CSRI-Ra to other populations would facilitate international research.

scholarly journals Children of the Night in The Others

2015 ◽  
Vol 37 (6) ◽  
pp. 14-17
Author(s):  
H. David Urquiza Hernandez
Keyword(s):  
Genetic Disease ◽  
Xeroderma Pigmentosum ◽  
Dark Side ◽  
The Sun ◽  
The Moon ◽  
Rare Genetic Disease ◽  
Award Winning ◽  
The Family ◽  
Alejandro Amenabar

Children of the Night, Children of the Moon or Children of the Dark are names used for referring to children suffering from xeroderma pigmentosum, a rare genetic disease in which the affected children cannot be exposed to sunlight, which can be fatal for them. This disease have been explored in a few films: Children of the Dark (a made-for-TV film), Dark Side of the Sun, a direct-to-DVD film and, finally, a mainstream film depicting children with this disease, The Others, an acclaimed and award-winning film directed by Alejandro Amenábar, starring Nicole Kidman as Grace, Fionnula Flanagan as Bertha and Alakina Mann and James Bentley as the children1. In The Others, Grace, the mother, and her two children Anna and Nicholas live in a big, dark, almost empty house. Later, we find out that the children cannot be exposed to the sun, so they only play inside the house, which has been emptied of superfluous furniture for the children to have more space in which to run around. The mother employs a new maid (Bertha) and two other new servants, and a series of events occur in such a way that the family, and the audience, begins to believe that the house is haunted. This article focuses on the depiction of children with xeroderma pigmentosum as represented in this film and how the film's approach and description of the disease match with the reality that families with affected children find every day.

Pathogenic Genes Selection Model of Genetic Disease based on Network Motifs Slicing Feedback

2019 ◽  
Vol 16 (5) ◽  
pp. 392-401
Author(s):  
Shengli Zhang ◽  
Zekun Tong ◽  
Haoyu Yin ◽  
Yifan Feng
Keyword(s):  
Genetic Disease ◽  
Drug Targets ◽  
Selection Model ◽  
Network Motifs ◽  
Gene Set ◽  
Pathway Network ◽  
Gene Pathway ◽  
Pathogenic Genes ◽  
Pathogenic Gene ◽  
Selection Of

Background: Finding the pathogenic gene is very important for understanding the pathogenesis of the disease, locating effective drug targets and improving the clinical level of medical treatment. However, the existing methods for finding the pathogenic genes still have limitations, for instance the computational complexity is high, and the combination of multiple genes and pathways has not been considered to search for highly related pathogenic genes and so on. Methods: We propose a pathogenic genes selection model of genetic disease based on Network Motifs Slicing Feedback (NMSF). We find a point set which makes the conductivity of the motif minimum then use it to substitute for the original gene pathway network. Based on the NMSF, we propose a new pathogenic genes selection model to expand pathogenic gene set. Results: According to the gene set we have obtained, selection of key genes will be more accurate and convincing. Finally, we use our model to screen the pathogenic genes and key pathways of liver cancer and lung cancer, and compare the results with the existing methods. Conclusion: The main contribution is to provide a method called NMSF which simplifies the gene pathway network to make the selection of pathogenic gene simple and feasible. The fact shows our result has a wide coverage and high accuracy and our model has good expeditiousness and robustness.

scholarly journals Primary breast tuberculosis: imaging findings of a rare disease

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Ali H. Baykan ◽  
Hakan S. Sayiner ◽  
Ibrahim Inan ◽  
Elcin Aydin ◽  
Sukru M. Erturk
Keyword(s):  
Differential Diagnosis ◽  
Rare Disease ◽  
Extrapulmonary Tuberculosis ◽  
Reproductive Age ◽  
Malignant Diseases ◽  
Imaging Findings ◽  
Granulomatous Mastitis ◽  
Rare Form ◽  
Breast Tuberculosis

AbstractBreast tuberculosis is a rare form of extrapulmonary tuberculosis which tends to affect females of reproductive age, and is much rarer in males, postmenopausal women, and pre-pubescent girls. It is difficult to diagnose because it can mimic benign conditions such as a fibroadenoma, as well as malignant diseases like a carcinoma. It is also particularly difficult to distinguish breast tuberculosis from granulomatous mastitis, so other possible diagnoses should be ruled out first. The diagnosis of breast tuberculosis has three essential pillars: clinical examination, radiological evaluations, and histopathological sampling. Radiological evaluations are not only critical in diagnosis but are also important in the planning of the treatment and during the follow-up. This paper aims to review the imaging findings and the differential diagnosis of breast tuberculosis.

Discovery of five new Galactic symbiotic stars in the VPHAS+ survey

2021 ◽  
Vol 502 (2) ◽  
pp. 2513-2517
Author(s):  
Stavros Akras ◽  
Denise R Gonçalves ◽  
Alvaro Alvarez-Candal ◽  
Claudio B Pereira
Keyword(s):  
Spectroscopic Data ◽  
Selection Criterion ◽  
Optical Spectra ◽  
Emission Lines ◽  
High Rate ◽  
Symbiotic Stars ◽  
Selection Of

ABSTRACT We report the validation of a recently proposed infrared (IR) selection criterion for symbiotic stars (SySts). Spectroscopic data were obtained for seven candidates, selected from the SySt candidates of Akras et al. by employing the new supplementary IR selection criterion for SySts in the VST/OmegaCAM Photometric H-Alpha Survey. Five of them turned out to be genuine SySts after the detection of H α, He ii, and [O iii] emission lines as well as TiO molecular bands. The characteristic O vi Raman-scattered line is also detected in one of these SySts. According to their IR colours and optical spectra, all five newly discovered SySts are classified as S-type. The high rate of true SySts detections of this work demonstrates that the combination of the H α emission and the new IR criterion improves the selection of target lists for follow-up observations by minimizing the number of contaminants and optimizing the observing time.

scholarly journals Age-dependency in mortality of Finnish family caregivers: a nationwide register-based study

2020 ◽  
Vol 30 (Supplement_5) ◽  
Author(s):  
T M Mikkola ◽  
H Kautiainen ◽  
M Mänty ◽  
M B von Bonsdorff ◽  
T Kröger ◽  
...  
Keyword(s):  
General Population ◽  
Family Caregivers ◽  
Family Caregiver ◽  
Causes Of Death ◽  
Lower Mortality ◽  
All Cause Mortality ◽  
The Difference ◽  
Caregiver Role ◽  
Selection Of

Abstract Purpose Mortality appears to be lower in family caregivers than in the general population. However, there is lack of knowledge whether the difference in mortality between family caregivers and the general population is dependent on age. The purpose of this study was to analyze all-cause mortality in relation to age in family caregivers and to study their cause-specific mortality using data from multiple Finnish national registers. Methods The data included all individuals, who received family caregiver's allowance in Finland in 2012 (n = 42 256, mean age 67 years, 71% women) and a control population matched for age, sex, and municipality of residence (n = 83 618). Information on dates and causes of death between 2012 and 2017 were obtained from the Finnish Causes of Death Register. Flexible parametric survival modeling and competing risk regression adjusted for socioeconomic status were used. Results The total follow-up time was 717 877 person-years. Family caregivers had lower all-cause mortality than the controls over the follow-up (8.1% vs. 11.6%) both among women (hazard ratio [HR]: 0.64, 95% CI: 0.61-0.68) and men (HR: 0.73, 95% CI: 0.70-0.77). Younger adult caregivers had equal or only slightly lower mortality than their controls, but after age 60, the difference increased markedly resulting in over 10% lower mortality in favor of the caregivers in the oldest age groups. Caregivers had lower mortality for all the causes of death studied, namely cardiovascular, cancer, neurological, external, respiratory, gastrointestinal and dementia than the controls. Of these, the lowest was the risk for dementia (subhazard ratio=0.29, 95%CI: 0.25-0.34). Conclusions Older family caregivers have lower mortality than the age-matched controls from the general population while younger caregivers have similar mortality to their peers. This age-dependent advantage in mortality is likely to reflect selection of healthier individuals into the family caregiver role. Key messages The difference in mortality between family caregivers and the age-matched general population varies considerably with age. Advantage in mortality observed in family caregiver studies is likely to reflect the selection of healthier individuals into the caregiver role, which underestimates the adverse effects of caregiving.

scholarly journals How to Use Online Tools to Generate New Hypotheses for Mammary Gland Biology Research: A Case Study for Wnt7b

2021 ◽  
Author(s):  
Yorick Bernardus Cornelis van de Grift ◽  
Nika Heijmans ◽  
Renée van Amerongen
Keyword(s):  
Mammary Gland ◽  
In Silico ◽  
Online Tools ◽  
Mammary Gland Biology ◽  
User Friendly ◽  
In Silico Analyses ◽  
Biology Research ◽  
Selection Of

AbstractAn increasing number of ‘-omics’ datasets, generated by labs all across the world, are becoming available. They contain a wealth of data that are largely unexplored. Not every scientist, however, will have access to the required resources and expertise to analyze such data from scratch. Fortunately, a growing number of investigators is dedicating their time and effort to the development of user friendly, online applications that allow researchers to use and investigate these datasets. Here, we will illustrate the usefulness of such an approach. Using regulation of Wnt7b expression as an example, we will highlight a selection of accessible tools and resources that are available to researchers in the area of mammary gland biology. We show how they can be used for in silico analyses of gene regulatory mechanisms, resulting in new hypotheses and providing leads for experimental follow up. We also call out to the mammary gland community to join forces in a coordinated effort to generate and share additional tissue-specific ‘-omics’ datasets and thereby expand the in silico toolbox.

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