VDR gene polymorphisms on risk of osteoporotic hip fracture in an adult population spanish

La osteoporosis es una enfermedad esquelética compleja multifactorial con un fuerte componente genético, caracterizada por un deterioro en la microestructura ósea que causa fragilidad ósea y un incremento en el riesgo de fracturas osteoporóticas. El gen VDR podría estar fuertemente involucrado en el riesgo de fractura. El objetivo de este trabajo fue investigar la asociación entre polimorfismos del gen VDR y la susceptibilidad a fractura de cadera (FC). Se reclutaron 147 pacientes andaluces (102 con factores de riesgos de fracturas osteoporóticas y 45 con metabolismo óseo normal). El aislamiento de ADN se realizó a partir de 300 mL de sangre, genotipando 2 SNPs: BsmI y FokI mediante PCRRFLP (PCR-Restriction Fragment Length Polymorphism). Todas las fracturas fueron confirmadas por rayos-X mientras que el riesgo de fracturas a través de la escala FRAX y DMO. Los resultados se evaluaron estadísticamente, considerando significativo valores de p<0,05. La edad media de los pacientes fracturados fue de 68,5 años, cuyas frecuencias alélicas fueron 64.7% G y 68.6% C para BsmI y FokI, respectivamente. La prevalencia de estos SNPs en la población caso fueron: 43,3% GA, 43.3% GG y 13,7% AA para BsmI y 49,0% CC, 39,20% CT, 11,8% TT para FokI. Las frecuencias de los alelos y genotipos no mostraron diferencias entre pacientes con riesgo de fracturas y pacientes control. Las frecuencias están acorde con las demostradas en HapMap para población europeacaucásica. No se encontró ninguna asociación significativa entre estos SNPs y la susceptibilidad a las FC en la población adulta andaluza.Osteoporosis is a multifactorial complex skeletal disease with strong genetic component, characterized by a deterioration of bone microstructure that causes bone fragility and an increased risk of osteoporotic fractures. VDR gene could be strongly involved in the risk of fracture. The aim of this study was to investigate the association between VDR gene polymorphisms and susceptibility to hip fracture (HF). 147 Andalusian patients were recruited (102 with risk factors for osteoporotic fractures and 47 with normal bone metabolism). DNA isolation was performed from 300 mL of blood, genotyping 2 SNPs: BsmI and FokI by PCR-RFLP (PCR-Restriction Fragment Length Polymorphism). All fractures were confirmed by X-rays while the risk of fractures through FRAX level and BMD. The results were statistically evaluated, considering significant p-values <0.05. The average age of fractured patients was 68.5 years, whose allele frequencies were 64.7% G and 68.6% C for BsmI and FokI, respectively. Prevalence of these SNPs in the case population were: 43.3% GA, 43.3% GG and 13.7% AA BsmI and 49.0 % CC, 39.2% CT, 11.8% TT for FokI. The frequencies of alleles and genotypes showed no differences between patients with and without risk of hip fracture. The frequencies are agree to HapMap for European-Caucasian population. It was found no significant association between these SNPs and susceptibility to HF in the adult population of Andalusia

Balanced gene losses, duplications and intensive rearrangements led to an unusual regularly sized genome in Arbutus unedo chloroplasts

Completely sequenced plastomes provide a valuable source of information about the duplication, loss, and transfer events of chloroplast genes and phylogenetic data for resolving relationships among major groups of plants. Moreover, they can also be useful for exploiting chloroplast genetic engineering technology. Ericales account for approximately six per cent of eudicot diversity with 11,545 species from which only three complete plastome sequences are currently available. With the aim of increasing the number of ericalean complete plastome sequences, and to open new perspectives in understanding Mediterranean plant adaptations, a genomic study on the basis of the complete chloroplast genome sequencing of Arbutus unedo and an updated phylogenomic analysis of Asteridae was implemented. The chloroplast genome of A. unedo shows extensive rearrangements but a medium size (150,897 nt) in comparison to most of angiosperms. A number of remarkable distinct features characterize the plastome of A. unedo: five-fold dismissing of the SSC region in relation to most angiosperms; complete loss or pseudogenization of a number of essential genes; duplication of the ndhH-D operon and its location within the two IRs; presence of large tandem repeats located near highly re-arranged regions and pseudogenes. All these features outline the primary evolutionary split between Ericaceae and other ericalean families. The newly sequenced plastome of A. unedo with the available asterid sequences allowed the resolution of some uncertainties in previous phylogenies of Asteridae

Nurses' perceptions of aids and obstacles to the provision of optimal end of life care in ICU

Contains fulltext : 172380.pdf (publisher's version ) (Open Access

1158P Study of patients’ characteristics associated with osimertinib outcomes upfront or in following lines in EGFR-positive NSCLC

BACKGROUND : In first line (L1) for EGFR-mutated (mEGFR) advanced NSCLC (aNSCLC), osimertinib (osi) has been the preferred option since 2018. First generation anti-EGFR TKI (1G) alone followed by osi, or 1G + anti-angiogenic or 1G + chemotherapy are other options. We aimed to assess the subgroups of patients (pts) that do not benefit from 1G alone compared with osimertinib L1 in mEGFR aNSCLC. [...

LIPI and outcomes of durvalumab as consolidation therapy after ChRT in patients with locally-advanced NSCLC [MA08.04]

INTRODUCTION : The lung immune prognostic index (LIPI), which combines pretreatment derived neutrophils/[leukocytes minus neutrophils] ratio (dNLR) >3 and lactate dehydrogenase (LDH) > upper limit of normal (ULN), is associated with outcomes in advanced non-small cell lung cancer (NSCLC) patients treated with immune checkpoint inhibitors (ICI). We aimed to assess whether pretreatment LIPI correlates with durvalumab efficacy after concurrent chemoradiotherapy in the locally advanced setting