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The impact of paralog genes:detection of copy number variation in spinal muscle atrophy patients

BIOCELL 2018年第3期42卷 87-91页

作者： Sergio LAURITO Juan A.CUETO jimena perez María ROQUé IHEM Universidad Nacional de CuyoCONICET Departamento de Biología Universidad Nacional de CuyoFacultad de Ciencias Exactas y Naturales Instituto de Fisiología Universidad Nacional de CuyoFacultad de Ciencias Médicas

Spinal muscular atrophy(SMA)is caused by dysfunction of the alpha motor neurons of the spinal *** is an autosomal recessive disease associated to the SMN1 gene,located in the subtelomeric region of 5q13.A paralog SMN2 gene is located at the centromeric region of the same chromosome,which apparently originated by an ancestral inverted duplication occurring only in *** exon sequence differs in two nucleotides in exon 7 and exon 8,which leads to an SMN2 transcript that lacks exon 7 and results in a truncated ***(10%)of the SMN2 transcripts avoids the splicing of exon 7 but most of the copies are *** a disease scenario,the more SMN2 copies the higher possibility to restore at least partly the effects of SMN1 *** therapeutic approaches are being developed to increase the expression of *** determine the number of SMN1 and SMN2 copies,the methodology must distinguish accurately between both *** this work,we present the results obtained using multiplex ligation-dependent probe amplification(MLPA)in 60 SMA suspected patients/carriers derived from different regions of *** 32 of these DNA samples we found alterations in *** these,16 presented a heterozygous deletion(carrier status)and 14 an homozygous deletion(patient status)in exon 7 and 8 of *** one case,exon 7 was found homozygously deleted but exon 8 presented a single copy,and in another case,exon 7 was found heterozygously deleted while exon 8 was *** half of the patients(7/15)presented a normal diploid number of SMN2 while the other half(8/15)presented an increased *** this work we showed how a probe-based methodology such as MLPA was able to distinguish between the paralog genes and determine the amount of copies in DNA samples from suspected patients/carriers of SMA.

关键词： SMA CNV MLPA Paralog gene

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Impact of socioeconomic and health-related factors on consumption of homeopathic and natural remedies in Spain in 2006, 2011 and 2017

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Journal of Integrative Medicine 2022年第1期20卷 52-56页

作者： Jose Antonio Castilla-jimena Isabel Ruiz-perez Jesus Henares-Montiel Andalusian School of Public Health 1801J GranadaSpain Unit of Clinical Management of Preventive Medicine and Public Health and Occupational Medicine Puerto del Mar University Hospital11009 CadizSpain Consortium for Networked Biomedical Research in Epidemiology and Public Health 28029 MadridSpain Institute for Biosanitary Research(ibs.GRANADA) 18012 GranadaSpain

Objective: Complementary and alternative medicine use and type of use may be influenced by sociodemographic and economic determinants through which we could identify characteristics of patients with greater trend to use it. This paper aims to describe the changes in the consumption of homeopathic and natural remedies in Spain for three time points in order to discern changes in rate of consumption, associated factors and whether their use has been affected by a period of economic ***: This study utilized 2006, 2011 and 2017 cross-sectional data from the Spanish National Health Survey, a nationally representative survey of the population aged more than 15 years old and resident in Spain. Independent bivariate and multivariate descriptive analyses for each of the 3 years studied were ***: The rate of consumption of both homeopathic and natural remedies has decreased over the periods studied. In spite of this decrease, the consumer profile appears to remain stable over the three periods. The sociodemographic factors associated with their consumption were being female, being 30–64 years old, being separated/divorced, having higher education qualifications, being employed and belonging to a higher social class. Psychiatric morbidity, chronic health problems such as pain, mental health problems or malignant tumors, and absence of major cardiovascular events were the clinical factors ***: It can be concluded that beyond the economic situation, the use of homeopathic and natural remedies obeys to the needs of the patients related to their state of health and the response they receive from the health system. It may be that women have different needs and expectations of the healthcare system and, given this breach of expectations, seek remedy to alleviate their needs outside the system and conventional medicine.

关键词： Complementary and alternative medicine Homeopathic remedies Natural remedies Economic recession Gender differences

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