Early Morphological Changes of the Rectus Femoris Muscle and Deep Fascia in Ullrich Congenital Muscular Dystrophy

Ullrich congenital muscular dystrophy (UCMD) is a severe form of muscular dystrophy caused by the loss of function of collagen VI, a critical component of the muscle-tendon matrix. Magnetic resonance imaging of UCMD patients’ muscles shows a peculiar rim of abnormal signal at the periphery of each muscle, and a relative sparing of the internal part. The mechanism/s involved in the early fat substitution of muscle fiber at the periphery of muscles remain elusive. We studied a muscle biopsy of the rectus femoris/deep fascia (DF) of a 3-year-old UCMD patient, with a homozygous mutation in the COL6A2 gene. By immunohistochemical and ultrastructural analysis, we found a marked fatty infiltration at the interface of the muscle with the epimysium/DF and an atrophic phenotype, primarily in fast-twitch fibers, which has never been reported before. An unexpected finding was the widespread increase of interstitial cells with long cytoplasmic processes, consistent with the telocyte phenotype. Our study documents for the first time in a muscle biopsy the peculiar pattern of outside-in muscle degeneration followed by fat substitution as already shown by muscle imaging, and an increase of telocytes in the interstitium of the deep fascia, which highlights a potential involvement of this structure in the pathogenesis of UCMD

Fatty acids and stable isotopes (13C, 15N) in southern right whale Eubalaena australis calves in relation toage and mortality at Peninsula Valdes, Argentina

Baleen whales accumulate fat reserves during the summer to sustain reproduction while fasting in the winter. The southern right whale Eubalaena australis population that calves off Península Valdés, Argentina, experienced high calf mortality events from 2003 to 2013 and poor nutritional states of mothers could be a contributing cause. Previous studies found that the population’s reproductive success is influenced by prey availability. Mothers unable to build sufficient fat reserves or feeding on prey with different nutritional value may fail to meet the demands of lactation. Milk is the only source of nutrients and energy for calves at Valdés, so their fatty acids (FAs) and stable isotopes should reflect their mother’s diet and feeding-ground locations. Here, we compared FA profiles and C and N stable isotopes of dead calves with those of living calves to evaluate the potential impact of maternal nutrition on calf survival. We found no differences in the FA composition of blubber in dead and living calves, indicating similar maternal diets. Likewise, the isotopic values of living and dead calves imply that their mothers had similar foraging ranges. However, FA composition was greatly affected by calf length, indicating effects of calf age and duration of nursing. These findings suggest that mothers of dead calves did not feed on different diets or feeding grounds compared to mothers of living calves. Future research should further assess the overall health and body condition of the Valdés southern right whale calves.Fil: Marón, Carina Flavia. Universidad Nacional de Córdoba. Facultad de Ciencias Exactas, Físicas y Naturales. Departamento de Diversidad Biológica y Ecológica; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Instituto de Conservación de Ballenas; ArgentinaFil: Budge, Suzanne M.. Dalhousie University Halifax; CanadáFil: Ward, Robert E.. Utah State University; Estados UnidosFil: Valenzuela, Luciano Oscar. Universidad Nacional del Centro de la Provincia de Buenos Aires. Facultad de Ciencias Sociales. Departamento de Arqueología. Laboratorio de Ecología Evolutiva Humana (Sede Quequén); Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tandil; ArgentinaFil: Di Martino, Matías. Programa de Monitoreo Sanitario Ballena Franca Austral; ArgentinaFil: Ricciardi, Marcos. Instituto de Conservación de Ballenas; ArgentinaFil: Sironi, Mariano. Instituto de Conservación de Ballenas; Argentina. Universidad Nacional de Córdoba. Facultad de Ciencias Exactas, Físicas y Naturales. Departamento de Diversidad Biológica y Ecológica; Argentina. Programa de Monitoreo Sanitario Ballena Franca Austral; ArgentinaFil: Uhart, Marcela. Programa de Monitoreo Sanitario Ballena Franca Austral; Argentina. University of California; Estados UnidosFil: Seger, Jon. University Of Utah. Department Of Biology; Estados UnidosFil: Rowntree, Victoria J.. University Of Utah. Department Of Biology; Estados Unidos. Instituto de Conservación de Ballenas; Argentina. Programa de Monitoreo Sanitario Ballena Franca Austral; Argentina. Whale Conservation Institute/Ocean Alliance; Estados Unido

La farmacoutilizzazione delle statine nella pratica clinica: risultati di uno studio di popolazione condotto su database amministrativi e di medici di medicina generale

In spite of findings of large-scale clinical trials which showed an overall reduction of morbidity and mortality from coronary heart disease in patients treated with 3-hydroxy-3-metylglutaryl coenzyme-A reductase inhibitors (statins), relatively little is still known about the real prevalence of treatment in general practice setting, particularly in patients with a high cardiovascular risk. The objective of this study was to investigate among patients with cardiovascular risk profile estimated according to the Framingham Heart Prediction Risk Study, the percentage of those exposed to statins, and the proportion of patients reaching total cholesterol (TC) target levels. A cross-sectional analysis was conducted on a large cohort of patients listed in the administrative databases of the Local Health Unit of Ravenna (total resident population of 356,000). In 2001, every single patient who received a prescription for a statin, and/or with a recorded plasma TC level, and/or with a hospital admission for cardiovascular reasons (identified by ICD-9 code), and/or with a clinical appraisal based on the presence of cardiovascular risk factors, was defined eligible. Sebsequently, pharmaceutical, and nosocomial databases, were cross-linked with that of 50 general practitioners in order to assess the pharmacoutilization of statins on a patient-by-patient basis. A cohort of 9,208 patients with a well documented cardiovascular risk profile were analyzed. The mean age of those patients was 57 (SD=17) years and 42% of them was male. On the basis of raised TC levels and cardiovascular risk profiles, patients for whom a statin treatment was suggested amounted to 7,233. However, the number of those who received statins was significantly lower (n = 1,343), corresponding to 18.6%. In those exposed to statins, just a small group of patients reached a level of TC below 190 mg/dl (n = 271), equivalent to 20.2%. In the group of treated who did not achieve recommended TC target levels, 31.7% (n = 340) of patients was at very high cardiovascular risk. Moreover, among all patients with high plasma TC levels (n=5,890), there was a 45.7% (n = 2,690) who did not received any lipid lowering drug even though they had a high cardiovascular risk profile. Results from large population-based administrative databases suggest a remarkable level of undertreatment among patients with cardiovascular risk factors. Furthermore, many patients did not achieve recommended TC target levels with their statin treatment. Pharmacoutilization of statins in general practice reveals the need of a more careful pursuing of therapeutic goals

Comparative Analysis of the Skull Morphometrics of Antarctic Fur Seals (Arctocephalus Gazella) from South Orkney And South Shetland Islands

Se estudió la morfometría craneana de dos agrupamientos poblacionales de lobo fino antártico, Arctocephalus gazella, pertenecientes a diferentes localidades del Arco de Scotia, con el objetivo de detectar variación geográfica. Esto podría aportar evidencias sobre migración y flujo génico entre las mismas. Además, de corroborarse la variación geográfica, podría constituir una herramienta útil para identificar la procedencia de individuos errantes de origen incierto. Se midieron 22 variables craneométricas para cada ejemplar, de un total de 78, provenientes de Islas Orcadas del Sur (n=43) e Islas Shetland del Sur (n=35). El análisis comparativo univariado y multivariado incluyó estadística standard, análisis de la varianza, análisis de componentes principales y análisis discriminante. No se halló una diferencia clara ni significativa entre los grupos analizados lo que indicaría que se mantiene el flujo génico entre ambos. Por lo tanto, la morfometría craneana por sí sola no puede utilizarse como una herramienta útil para determinar el origen de individuos errantes de esta especie.Skull morphometrics of two populations of Antarctic fur seals (Arctocephalus gazella) located at different islands of the Scotia Arc were compared in order to detect possible geographical variation. This could provide evidence on migration and gene flow between them. In addition, if variation was shown to occur, this could be useful in identifying the source of vagrant seals of this species of unknown origin. Twenty two metric variables were measured from adult male skulls from South Orkney Islands (n=43) and South Shetland Islands (n=35). Comparative univariate and multivariate statistical analyses included standard statistics, one-way analysis of variance, principal component analysis and discriminant analysis. No significant separation between the two island groups, based on cranial characteristics, was found. This would indicate that gene flow is still occurring between them. Therefore, skull morphometrics cannot be used to determine the origin of vagrant fur seals.Sociedad de Ciencias Morfológicas de La Plat

Analisi della persistenza e delle risorse allocate nel trattamento farmacologico dell’ipertensione arteriosa

In this study, the persistence with treatment and resources allocated in antihypertensive pharmacotherapy has been evaluated. Administrative databases of the Local Health Unit of Ravenna listing patients baseline characteristics, drug prescriptions and hospital admissions were used to perform a population-based retrospective study. All new users 20 years old or over receiving a first prescription for diuretics, beta-blockers, calcium channel-blockers, ACE inhibitors or AII-Antagonists between January 1st, 1997 and December 31st, 1997 were included. A one-year follow-up for prescriptions of anti-hypertensive drugs were considered. According to duration of therapy, treated population was divided in persistent patients (continuers and switchers) and non-persistent patients. A total of 16,783 patients was included in the study of whom 64.9% were non-persistents. Persistence with treatment seems to be associated with the class of anti-hypertensive drug initially prescribed, and with patient-related factors. Patients initially prescribed for AII-Antagonists were more likely to persist than those starting on the other antihypertensive classes. Annual antihypertensive treatment cost accounted for • 1,076,053.55 of which 25.4% for non-persistent patients. An appropriate use of claims data may be considered as a powerful tool, providing detailed epidemiological and economic information concerning the antihypertensive treatment

Desterrados : Los silenciados de la Conquista

Desterrados es una exhibición itinerante destinada a discutir la noción de "Conquista del desierto". A partir de algunos de los objetos de la colección patrimonial de Salatino Mazulli (provincia de Río Negro), la exhibición invita a reflexionar sobre aquel proceso histórico desde una perspectiva integral. También poner en valor la lucha de los pueblos por la reivindicación de sus derechos, repensando la historia nacional desde una mirada local.Facultad de Ciencias Naturales y Muse

Desterrados : Los silenciados de la Conquista

Desterrados es una exhibición itinerante destinada a discutir la noción de "Conquista del desierto". A partir de algunos de los objetos de la colección patrimonial de Salatino Mazulli (provincia de Río Negro), la exhibición invita a reflexionar sobre aquel proceso histórico desde una perspectiva integral. También poner en valor la lucha de los pueblos por la reivindicación de sus derechos, repensando la historia nacional desde una mirada local.Facultad de Ciencias Naturales y Muse

Flow cytometric immunobead assay for detection of BCR-ABL1 fusion proteins in chronic myleoid leukemia: Comparison with FISH and PCR techniques

Chronic Myeloid Leukemia (CML) is characterized by a balanced translocation juxtaposing the Abelson (ABL) and breakpoint cluster region (BCR) genes. The resulting BCR-ABL1 oncogene leads to increased proliferation and survival of leukemic cells. Successful treatment of CML has been accompanied by steady improvements in our capacity to accurately and sensitively monitor therapy response. Currently, measurement of BCR-ABL1 mRNA transcript levels by real-time quantitative PCR (RQ-PCR) defines critical response endpoints. An antibody-based technique for BCR-ABL1 protein recognition could be an attractive alternative to RQ-PCR. To date, there have been no studies evaluating whether flow-cytometry based assays could be of clinical utility in evaluating residual disease in CML patients. Here we describe a flow-cytometry assay that detects the presence of BCR-ABL1 fusion proteins in CML lysates to determine the applicability, reliability, and specificity of this method for both diagnosis and monitoring of CML patients for initial response to therapy. We show that: i) CML can be properly diagnosed at onset, (ii) follow-up assessments show detectable fusion protein (i.e. relative mean fluorescent intensity, rMFI%>1) when BCR-ABL1IS transcripts are between 1-10%, and (iii) rMFI% levels predict CCyR as defined by FISH analysis. Overall, the FCBA assay is a rapid technique, fully translatable to the routine management of CML patients

Prognostic Factors for Overall Survival In Chronic Myeloid Leukemia Patients: A Multicentric Cohort Study by the Italian CML GIMEMA Network

An observational prospective study was conducted by the CML Italian network to analyze the role of baseline patient characteristics and first line treatments on overall survival and CML-related mortality in 1206 newly diagnosed CML patients, 608 treated with imatinib (IMA) and 598 with 2nd generation tyrosine kinase inhibitors (2GTKI). IMA-treated patients were much older (median age 69 years, IQR 58-77) than the 2GTKI group (52, IQR 41-63) and had more comorbidities. Estimated 4-year overall survival of the entire cohort was 89% (95%CI 85.9-91.4). Overall, 73 patients (6.1%) died: 17 (2.8%) in the 2GTKI vs 56 (9.2%) in the IMA cohort (adjusted HR=0.50; 95% CI=0.26-0.94), but no differences were detected for CML-related mortality (10 (1.7%) vs 11 (1.8%) in the 2GTKIs vs IMA cohort (sHR=1.61; 0.52-4.96). The ELTS score was associated to CML mortality (high risk vs low, HR=9.67; 95%CI 2.94-31.74; p<0.001), while age (per year, HR=1.03; 95%CI 1.00-1.06; p=0.064), CCI (4-5 vs 2, HR=5.22; 95%CI 2.56-10.65; p<0.001), ELTS score (high risk vs low, HR=3.11; 95%CI 1.52-6.35, p=0.002) and 2GTKI vs IMA (HR=0.26; 95%CI 0.10-0.65, p=0.004) were associated to an increased risk of non-related CML mortality. The ELTS score showed a better discriminant ability than the Sokal score in all comparisons