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

Contribution to the ecology of the Italian hare (Lepus corsicanus)

the italian hare (Lepus corsicanus) is endemic to Central-Southern Italy and Sicily, classified as vulnerable due to habitat alterations, low density and fragmented populations and ecological competition with the sympatric european hare (Lepus europaeus). Despite this status, only few and local studies have explored its ecological features. We provided some key traits of the ecological niche of the italian hare as well as its potential distribution in the italian peninsula. All data derived from genetically validated presences. We generated a habitat suitability model using maximum entropy distribution model for the italian hare and its main competitor, the european hare. the dietary habits were obtained for the italian hare with DnA metabarcoding and High-throughput Sequencing on faecal pellets. The most relevant environmental variables affecting the potential distribution of the italian hare are shared with the european hare, suggesting a potential competition. the variation in the observed altitudinal distribution is statistically significant between the two species.The diet of the Italian hare all year around includes 344 plant taxa accounted by 62 families. The Fagaceae, Fabaceae, Poaceae, Rosaceae and Solanaceae (counts > 20,000) represented the 90.22% of the total diet. Fabaceae (60.70%) and Fagaceae (67.47%) were the most abundant plant items occurring in the Spring/Summer and Autumn/Winter diets, respectively. the Spring/Summer diet showed richness (N = 266) and diversity index values (Shannon: 2.329, Evenness: 0.03858, Equitability: 0.4169) higher than the Autumn/Winter diet (N = 199, Shannon: 1.818, Evenness: 0.03096, Equitability: 0.3435). Our contribution adds important information to broaden the knowledge on the environmental (spatial and trophic) requirements of the Italian hare, representing effective support for fitting management actions in conservation planning

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

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

Alopecia in Patients with Collagen VI-Related Myopathies: A Novel/Unrecognized Scalp Phenotype

Collagen VI-related myopathies are characterized by severe muscle involvement and skin involvement (keratosis pilaris and impaired healing with the development of abnormal scars, especially keloids). Scalp involvement and hair loss have not been reported among cutaneous changes associated with collagen VI mutations. The aim of this study is to describe the clinical, trichoscopic, and histological findings of the scalp changes in patients affected by COL VI mutations and to estimate their prevalence. Patients with Ullrich congenital muscular dystrophy were enrolled and underwent clinical and trichoscopic examinations and a scalp biopsy for histopathology. Five patients were enrolled, and all complained of hair loss and scalp itching. One patient showed yellow interfollicular scales with erythema and dilated, branched vessels, and the histological findings were suggestive of scalp psoriasis. Two patients presented with scarring alopecia patches on the vertex area, and they were histologically diagnosed with folliculitis decalvans. The last two patients presented with scaling and hair thinning, but they were both diagnosed with folliculitis and perifolliculitis. Ten more patients answered to a “scalp involvement questionnaire”, and six of them confirmed to have or have had scalp disorders and/or itching. Scalp involvement can be associated with COL VI mutations and should be investigated

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