Interpenetrated polymer networks of Poly(β-cyclodextrin) and Polyvinylpyrrolidone with synergistic and selective sorption capacities

Interpenetrating polymer network (IPN) hydrogels were synthesised using β-cyclodextrin (β-CD) and N-vynil-2-pyrrolidone (NVP) crosslinked with epichlorohydrin and divinylbenzene, respectively, and prepared by four different procedures: simultaneous, sequential, hybrid and a novel one named hybrid-sequential. The IPNs prepared have been characterised by infrared spectroscopy and thermal analysis. The equilibrium swelling in water and the sorption of model substances into the IPNs have also been studied. The model sorbates (1-naphthol, 2-acetylnaphthalene and tannic acid) were selected according to the affinities towards each one of the two constituent polymers. Our studies reveal that these IPNs can be applied for the sorption of substances that can interact with the network by two mechanisms, i.e. inclusion within cyclodextrin cavities and/or via specific interactions with the functional groups present. Besides, due to the complementary character of their constituent polymers, these networks could also serve to retain two substances of different nature such as cetirizine and pseudoephedrine

Influencia de la edad en el resultado de la cirugía sustitutiva total de la cadera

A revision of the first 700 total hip prostheses (operated on in the period 1969-1980) is carried out with the purpose to establish the influence of the age on the evolution of the arthroplasty. The results are very satisfactory but it is younger patients that complications related to loosening are more frequent. This fact can be explained by a longer period of evolution and a major prosthetic stress in these patients. By this reason, we do not use actually cement to fix the implants in those patients younger than sixty

Next-generation sequencing improves precision medicine in hearing loss

Background: An early etiological diagnosis of hearing loss positively impacts children’s quality of life including language and cognitive development. Even though hearing loss associates with extremely high genetic and allelic heterogeneity, several studies have proven that Next-Generation Sequencing (NGS)-based gene panel testing significantly reduces the time between onset and diagnosis.Methods: In order to assess the clinical utility of our custom NGS GHELP panel, the prevalence of pathogenic single nucleotide variants, indels or copy number variants was assessed by sequencing 171 nuclear and 8 mitochondrial genes in 155 Spanish individuals with hearing loss.Results: A genetic diagnosis of hearing loss was achieved in 34% (52/155) of the individuals (5 out of 52 were syndromic). Among the diagnosed cases, 87% (45/52) and 12% (6/52) associated with autosomal recessive and dominant inheritance patterns respectively; remarkably, 2% (1/52) associated with mitochondrial inheritance pattern. Although the most frequently mutated genes in this cohort were consistent with those described in the literature (GJB2, OTOF or MYO7A), causative variants in less frequent genes such as TMC1, FGF3 or mitCOX1 were also identified. Moreover, 5% of the diagnosed cases (3/52) were associated with pathogenic copy number variants.Conclusion: The clinical utility of NGS panels that allows identification of different types of pathogenic variants–not only single nucleotide variants/indels in both nuclear and mitochondrial genes but also copy number variants–has been demonstrated to reduce the clinical diagnostic odyssey in hearing loss. Thus, clinical implementation of genomic strategies within the regular clinical practice, and, more significantly, within the newborn screening protocols, is warranted

Identification of germline cancer predisposition variants in pediatric sarcoma patients from somatic tumor testing

Genetic predisposition is an important risk factor for cancer in children and adolescents but detailed associations of individual genetic mutations to childhood cancer are still under intense investigation. Among pediatric cancers, sarcomas can arise in the setting of cancer predisposition syndromes. The association of sarcomas with these syndromes is often missed, due to the rarity and heterogeneity of sarcomas and the limited search of cancer genetic syndromes. This study included 43 pediatric and young adult patients with different sarcoma subtypes. Tumor profiling was undertaken using the Oncomine Childhood Cancer Research Assay (Thermo Fisher Scientific). Sequencing results were reviewed for potential germline alterations in clinically relevant genes associated with cancer predisposition syndromes. Jongmans¿ criteria were taken into consideration for the patient selection. Fifteen patients were selected as having potential pathogenic germline variants due to tumor sequencing that identified variants in the following genes: CDKN2A, NF1, NF2, RB1, SMARCA4, SMARCB1 and TP53. The variants found in NF1 and CDKN2A in two different patients were detected in the germline, confirming the diagnosis of a cancer predisposition syndrome. We have shown that the results of somatic testing can be used to identify those at risk of an underlying cancer predisposition syndrome

Measuring socio-demographic differences in volunteers with a value-based index: illustration in a mega event

The phenomenon of volunteering can be analysed as a consumer experience through the concept of value as a trade-off between benefits and costs. In event volunteering, both the expected value (pre-experienced) and the perceived value (post-experienced) of volunteering can be assessed. With this purpose, an online quantitative survey is conducted with a sample of 711 volunteers in a religious mega event, with questions related to five dimensions of their experience: efficiency, social value, play, spirituality and time spent. These five scales, properly tested are used for building a multidimensional index of both the expected and perceived value of the volunteer experience. ANOVAs test show significant differences on the index in both moments upon the socio-demographic profiles: negative expectations/experience balance by age, contrasted results by sex, and more experienced volunteers being more critical with the value experienced. Implications for event managers are proposed, in line with the motivation of volunteers

Influencia de la edad en el resultado de la cirugía sustitutiva total de la cadera

A revision of the first 700 total hip prostheses (operated on in the period 1969-1980) is carried out with the purpose to establish the influence of the age on the evolution of the arthroplasty. The results are very satisfactory but it is younger patients that complications related to loosening are more frequent. This fact can be explained by a longer period of evolution and a major prosthetic stress in these patients. By this reason, we do not use actually cement to fix the implants in those patients younger than sixty

Interpenetrated polymer networks of Poly(β-cyclodextrin) and Polyvinylpyrrolidone with synergistic and selective sorption capacities

Interpenetrating polymer network (IPN) hydrogels were synthesised using β-cyclodextrin (β-CD) and N-vynil-2-pyrrolidone (NVP) crosslinked with epichlorohydrin and divinylbenzene, respectively, and prepared by four different procedures: simultaneous, sequential, hybrid and a novel one named hybrid-sequential. The IPNs prepared have been characterised by infrared spectroscopy and thermal analysis. The equilibrium swelling in water and the sorption of model substances into the IPNs have also been studied. The model sorbates (1-naphthol, 2-acetylnaphthalene and tannic acid) were selected according to the affinities towards each one of the two constituent polymers. Our studies reveal that these IPNs can be applied for the sorption of substances that can interact with the network by two mechanisms, i.e. inclusion within cyclodextrin cavities and/or via specific interactions with the functional groups present. Besides, due to the complementary character of their constituent polymers, these networks could also serve to retain two substances of different nature such as cetirizine and pseudoephedrine

Table1_Next-generation sequencing improves precision medicine in hearing loss.XLSX

Background: An early etiological diagnosis of hearing loss positively impacts children’s quality of life including language and cognitive development. Even though hearing loss associates with extremely high genetic and allelic heterogeneity, several studies have proven that Next-Generation Sequencing (NGS)-based gene panel testing significantly reduces the time between onset and diagnosis.Methods: In order to assess the clinical utility of our custom NGS GHELP panel, the prevalence of pathogenic single nucleotide variants, indels or copy number variants was assessed by sequencing 171 nuclear and 8 mitochondrial genes in 155 Spanish individuals with hearing loss.Results: A genetic diagnosis of hearing loss was achieved in 34% (52/155) of the individuals (5 out of 52 were syndromic). Among the diagnosed cases, 87% (45/52) and 12% (6/52) associated with autosomal recessive and dominant inheritance patterns respectively; remarkably, 2% (1/52) associated with mitochondrial inheritance pattern. Although the most frequently mutated genes in this cohort were consistent with those described in the literature (GJB2, OTOF or MYO7A), causative variants in less frequent genes such as TMC1, FGF3 or mitCOX1 were also identified. Moreover, 5% of the diagnosed cases (3/52) were associated with pathogenic copy number variants.Conclusion: The clinical utility of NGS panels that allows identification of different types of pathogenic variants–not only single nucleotide variants/indels in both nuclear and mitochondrial genes but also copy number variants–has been demonstrated to reduce the clinical diagnostic odyssey in hearing loss. Thus, clinical implementation of genomic strategies within the regular clinical practice, and, more significantly, within the newborn screening protocols, is warranted.</p