Taking advantage of an old concept, "illegitimate transcription", for a proposed novel method of genetic diagnosis of McArdle disease

McArdle disease is a metabolic disorder caused by pathogenic mutations in the PYGM gene. Timely diagnosis can sometimes be difficult with direct genomic analysis, which requires additional studies of cDNA from muscle transcripts. Although the "nonsense-mediated mRNA decay" (NMD) eliminates tissue-specific aberrant transcripts, there is some residual transcription of tissue-specific genes in virtually all cells, such as peripheral blood mononuclear cells (PBMCs).We studied a subset of the main types of PYGM mutations (deletions, missense, nonsense, silent, or splicing mutations) in cDNA from easily accessible cells (PBMCs) in 12 McArdle patients.Analysis of cDNA from PBMCs allowed detection of all mutations. Importantly, the effects of mutations with unknown pathogenicity (silent and splicing mutations) were characterized in PBMCs. Because the NMD mechanism does not seem to operate in nonspecific cells, PBMCs were more suitable than muscle biopsies for detecting the pathogenicity of some PYGM mutations, notably the silent mutation c.645G>A (p.K215=), whose effect in the splicing of intron 6 was unnoticed in previous muscle transcriptomic studies.We propose considering the use of PBMCs for detecting mutations that are thought to cause McArdle disease, particularly for studying their actual pathogenicity.

Influence of depression in a sample of people with hallux valgus

Hallux valgus (HV) is a highly-prevalent forefoot deformity associated with progressive subluxation and osteoarthritis of the first metatarsophalangeal joint; it is believed to be associated with depression. The aim of the present study was to determine the association of patients with varying degrees of HV involvement to depression using the Beck Depression Inventory (BDI). The sample consisted of 102 participants (mean age: 45.1±1.6), who attended an outpatient centre where self-report data were recorded. The degree of HV deformity was determined in both feet, and the scores on the BDI were compared. A total of 38.24% of the sample had depression, with an average BDI score of 10.55±12.36 points. There was a statistically-significant association between the degree and presence of HV in both feet (P=0.0001). People with a greater degree of HV deformity in any foot also have a significant increase in depression based on BDI scores, regardless of sex.

Does multiparametric MRI increase Oncologic outcomes in prostate cancer?

The purpose of this study is to compare the 4-year biochemical disease-free survival (BDFS) of patients with prostate cancer (PCa) staged according to multiparametric MRI (mpMRI) and treated with radical prostatectomy (RP) versus intensity-modulated radiation therapy (IMRT) ≥76 Gy ± hormonal therapy (HT).

Terrorism, Charities and Diasporas: Contrasting the fundraising practices of Hamas and al Qaeda among Muslims in Europe

Gunning, Jeroen. 'Terrorism, Charities and Diasporas: Contrasting the fundraising practices of Hamas and al Qaeda among Muslims in Europe', In: Countering the Financing of Terrorism (New York: Routledge, 2007), pp.93-125 RAE2008

Welsh Water: role model or special case?

Thomas, D. (2001). Welsh Water: role model or special case?. Utilities Policy, 10 (2), 99-114. RAE2008

Informe asistencia técnica para la evaluación y mejoramiento de los procesos productivos en la alfarería de la comunidad de Cocoviejo.

36 hojas : ilustraciones, fotografías.

Curso taller diseño aplicado a la artesanía y tendencias 2004-2005 : conceptos básicos de Diseño.

66 hojas : ilustraciones, gráficas.

Diagnóstico actual de los joyeros en el municipio de Barbacoas y recomendaciones para apoyar la organización y el incremento en la producción y la comercialización mediante el mejoramiento de talleres.

17 hojas : ilustraciones, fotografías.

Diagnóstico del sector joyero del departamento de Nariño. Municipios de Los Andes, La Llanada, Cumbitara y Tumaco.

59 hojas : fotografías.

Una asesoría sobre aplicación de tecnologías apropiadas.

7 hojas : ilustraciones, fotografías.

Un documento que contenga el diseño de un sistema tecnológico que mejore la calidad del acabado.

6 hojas : ilustraciones.

Un documento que contenga el diseño de un sistema tecnológico que mejore la calidad del acabado.

10 hojas: ilustraciones, fotografías (en blanco y negro ilegibles)

Asistencia técnica para el mejoramiento en los procesos productivos identificados como críticos en el aseguramiento de la calidad en los productos finales : Informe de avance.

36 hojas : 52 ilustraciones fotográficas (en blanco y negro ilegibles).

Informe de capacitación en el oficio de la joyería en diseño y elaboración de productos para la comercialización en mercados nacionales e internacionales en la cadena minería joyería comercialización del departamento de Antioquia.

253 hojas : ilustraciones, fotografías.

Informe de capacitación en el oficio de la joyería en diseño y elaboración de productos para la comercialización en mercados nacionales e internacionales en la cadena minería joyería comercialización del departamento de Antioquia Medellín.

49 hojas : ilustraciones.