La obra para piano y orquesta de Eduardo Grau. Una aproximación

As part of the cataloging and digitization of materials constituting the repository IIMCV, to start the analytical study of the production of Eduardo Grau his five works composed for piano and orchestra are chosen, because in them we find the synthesis of his musical thinking, focusing on their Hispanic roots. The works to be considered are, in chronological order with respect to the date of its composition: Concierto Real for Piano and Orchestra Op 15 (1947), Concerto No. 2, Catalán for piano and orchestra Op 50 (1957.) Concerto for two pianos and concert band (1964), Concerto No. 3 Op. 118 for piano and orchestra Concierto de Villena (1972) and Variations More Hispano on a theme by Stravinsky Op. 164 (1982).Como parte del proyecto de catalogación y digitalización de los materiales que constituyen el repositorio del IIMCV hemos elegido para comenzar el estudio analítico de la producción de Eduardo Grau las cinco obras que compusiera para piano y orquesta, ya que en ellas podemos encontrar la síntesis de su pensamiento musical, centrado en sus raíces hispánicas. Las obras a considerar son, en orden cronológico con respecto a la fecha de su composición: el Concierto Real para piano y orquesta Op. 15 (1947), el Concierto Nº 2, Catalán, para piano y orquesta Op. 50 (1957) el Concierto para dos pianos y orquesta de vientos (1964), el Concierto Nº 3 Op. 118 para piano y orquesta Concierto de Villena (1972), y las Variaciones More Hispano sobre un tema de Stravinsky Op. 164 (1982)

Prolidase deficiency: biochemical study of erythrocyte and skin fibroblast prolidase activity in Italian patients

BACKGROUND AND METHODS: Prolidase deficiency (PD), a rare, autosomally inherited disorder causing iminodipeptiduria is associated with a number of clinical manifestations, the principle feature being chronic skin ulceration. The enzyme prolidase cleaves iminodipeptides containing C-terminal prolyl or hydroxyprolyl residues and is important in the final stages of protein catabolism. We report clinical and biochemical findings in 8 Italian patients with proven prolidase deficiency. There was considerable heterogeneity in age at onset of symptoms (varying from 3-17 years), mental retardation and clinical manifestations (asymptomless to very severe). Prolidase activity was determined in hemolysates of patient erythrocytes and cultured dermal fibroblasts. RESULTS: Prolidase activity was found to be deficient, especially against gly-pro. Erythrocyte and fibroblast enzyme was also separated into two forms, a major isoform (I) and a minor one (II) by fast protein liquid chromatography, and activity against different iminodipeptide substrates was tested. Isoform I activity was markedly reduced in all patients as compared to normal controls, while isoform II activity appeared to be unaltered. CONCLUSIONS: We were unable to find any correlation between degree of enzyme activity loss and severity of symptoms

In vitro effects of tyre debris organic extract on the kinetic and morphologic traits of rabbit spermatozoa

[EN] The present study aims at evaluating the effects of the organic extract of tyre debris (TDOE) from tyre wear on the kinetic and morphologic features of rabbit spermatozoa. Rabbit sperm were incubated for 4 h with 0, 5, 10, 50 and 75 ¿g/mL of TDOE. Sperm motility was evaluated by computer-assisted semen analysis. Phosphatidilcholine (PS) externalization (apoptosis) and plasma membrane breakage (necrosis) were assessed using the annexinV/propidium iodide assay. The sperm ultrastructure was observed by scanning (SEM) and transmission electron microscopy (TEM). A relevant decrease in the motility rate, PS externalization, and in plasma membrane breakage of spermatozoa were observed after incubation with TDOE at concentrations higher than 50 ¿g/mL. The most frequent ultrastructural anomalies detected in the analysed specimens were: plasma and/or acrosomal membrane breakage, swollen and disorganized mitochondria, and altered axonemal patterns. Taken together, these results suggest that the organic extract of tyre debris can be toxic to rabbit spermatozoa ¿ affecting their movement and structural integrity ¿ when present in seminal plasma at a concentrations higher than 50 ¿g/mL. Although rabbit sperm has been proven to be a suitable model for testing the in vitro effects of many chemical compounds, including TDOE, the obtained results must be considered preliminary and cannot be extrapolated yet to the in vivo outcomes because of scanty data. The results encourage, however, further research in this field.Supported by the PROLIFE Flagship project, city of Milan, ItalyMoretti, E.; Dal Bosco, A.; Mourvaki, E.; Cardinali, R.; Collodel, G.; Geminiani, M.; Cetta, F.... (2009). In vitro effects of tyre debris organic extract on the kinetic and morphologic traits of rabbit spermatozoa. World Rabbit Science. 17(4):213-220. doi:10.4995/wrs.2009.64621322017

Insights from triggers and prodromal symptoms on how migraine attacks start: The threshold hypothesis

Background: The prodrome or premonitory phase is the initial phase of a migraine attack, and it is considered as a symptomatic phase in which prodromal symptoms may occur. There is evidence that attacks start 24-48 hours before the headache phase. Individuals with migraine also report several potential triggers for their attacks, which may be mistaken for premonitory symptoms and hinder migraine research. Methods: This review aims to summarize published studies that describe contributions to understanding the fine difference between prodromal/premonitory symptoms and triggers, give insights for research, and propose a way forward to study these phenomena. We finally aim to formulate a theory to unify migraine triggers and prodromal symptoms. For this purpose, a comprehensive narrative review of the published literature on clinical, neurophysiological and imaging evidence on migraine prodromal symptoms and triggers was conducted using the PubMed database. Results: Brain activity and network connectivity changes occur during the prodromal phase. These changes give rise to prodromal/premonitory symptoms in some individuals, which may be falsely interpreted as triggers at the same time as representing the early manifestation of the beginning of the attack. By contrast, certain migraine triggers, such as stress, hormone changes or sleep deprivation, acting as a catalyst in reducing the migraine threshold, might facilitate these changes and increase the chances of a migraine attack. Migraine triggers and prodromal/premonitory symptoms can be confused and have an intertwined relationship with the hypothalamus as the central hub for integrating external and internal body signals. Conclusions: Differentiating migraine triggers and prodromal symptoms is crucial for shedding light on migraine pathophysiology and improve migraine management

A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype.

Mutations in the diastrophic dysplasia sulfate transporter (DTDST or SLC26A2) cause a family of recessively inherited chondrodysplasias including, in order of decreasing severity, achondrogenesis 1B, atelosteogenesis 2, diastrophic dysplasia (DTD) and recessive multiple epiphyseal dysplasia. The gene encodes a widely distributed sulfate/chloride antiporter of the cell membrane whose function is crucial for the uptake of inorganic sulfate, which is needed for proteoglycan sulfation. To provide new insights in the pathogenetic mechanisms leading to skeletal and connective tissue dysplasia and to obtain an in vivo model for therapeutic approaches to DTD, we generated a Dtdst knock-in mouse with a partial loss of function of the sulfate transporter. In addition, the intronic neomycine cassette in the mutant allele contributed to the hypomorphic phenotype by inducing abnormal splicing. Homozygous mutant mice were characterized by growth retardation, skeletal dysplasia and joint contractures, thereby recapitulating essential aspects of the DTD phenotype in man. The skeletal phenotype included reduced toluidine blue staining of cartilage, chondrocytes of irregular size, delay in the formation of the secondary ossification center and osteoporosis of long bones. Impaired sulfate uptake was demonstrated in chondrocytes, osteoblasts and fibroblasts. In spite of the generalized nature of the sulfate uptake defect, significant proteoglycan undersulfation was detected only in cartilage. Chondrocyte proliferation and apoptosis studies suggested that reduced proliferation and/or lack of terminal chondrocyte differentiation might contribute to reduced bone growth. The similarity with human DTD makes this mouse strain a useful model to explore pathogenetic and therapeutic aspects of DTDST-related disorders

Extra-Intestinal Manifestations of Familial Adenomatous Polyposis

Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited disorder, which results from a germ line mutation in the APC (adenomatous polyposis coli) gene. FAP is characterized by the formation of hundreds to thousands of colorectal adenomatous polyps. Although the development of colorectal cancer stands out as the most prevalent complication, FAP is a multisystem disorder of growth. This means, it is comparable to other diseases such as the MEN syndromes, Von Hippel-Lindau disease and neurofibromatosis. However, the incidence of many of its clinical features is much lower. Therefore, a specialized multidisciplinary approach to optimize health care—common for other disorders—is not usually taken for FAP patients. Thus, clinicians that care for and counsel members of high-risk families should have familiarity with all the extra-intestinal manifestations of this syndrome. FAP-related complications, for which medical attention is essential, are not rare and their estimated lifetime risk presumably exceeds 30%. Affected individuals can develop thyroid and pancreatic cancer, hepatoblastomas, CNS tumors (especially medulloblastomas), and various benign tumors such as adrenal adenomas, osteomas, desmoid tumors and dental abnormalities. Due to improved longevity, as a result of better prevention of colorectal cancer, the risk of these clinical problems will further increase