Contactless skin perfusion monitoring with video cameras: tracking pharmacological vasoconstriction and vasodilation using photoplethysmographic changes.

Objectives.Clinical assessment of skin perfusion informs prognosis in critically ill patients. Video camera monitoring could provide an objective, continuous method to monitor skin perfusion. In this prospective, interventional study of healthy volunteers, we tested whether video camera-derived photoplethysmography imaging and colour measurements could detect drug-induced skin perfusion changes.Approach.We monitored the lower limbs of 30 volunteers using video cameras while administering phenylephrine (a vasoconstrictor) and glyceryl trinitrate (a vasodilator). We report relative pixel intensity changes from baseline, as absolute values are sensitive to environmental factors. The primary outcome was the pre- to peak- infusion green channel amplitude change in the pulsatile PPGi waveform component. Secondary outcomes were pre-to-peak changes in the photoplethysmographic imaging waveform baseline, skin colour hue and skin colour saturation.Main results.The 30 participants had a median age of 29 years (IQR 25-34), sixteen (53%) were male. A 34.7% (p= 0.0001) mean decrease in the amplitude of the pulsatile photoplethysmographic imaging waveform occurred following phenylephrine infusion. A 30.7% (p= 0.000004) mean increase occurred following glyceryl trinitrate infusion. The photoplethysmographic imaging baseline decreased with phenylephrine by 2.1% (p= 0.000 02) and increased with glyceryl trinitrate by 0.5% (p= 0.026). Skin colour hue changed in opposite direction with phenylephrine (-0.0013,p= 0.0002) and glyceryl trinitrate (+0.0006,p= 0.019). Skin colour saturation decreased with phenylephrine by 0.0022 (p= 0.0002), with no significant change observed with glyceryl trinitrate (+0.0005,p= 0.21).Significance.Drug-induced vasoconstriction and vasodilation are associated with detectable changes in photoplethysmographic imaging waveform parameters and skin hue. Our findings suggest video cameras have great potential for continuous, contactless skin perfusion monitoring.

Fisiología respiratoria: circulación pulmonar / Respiratory physiology: pulmonary circulation

El pulmón recibe sangre desde la circulación bronquial y pulmonar. La circulación pulmonar presenta importantes diferencias con la sistémica, sus vasos sanguíneos poseen características únicas que le permiten cumplir sus diferentes funciones, siendo la más importante el intercambio gaseoso. Existen múltiples factores, activos y pasivos, que están involucrados en la regulación de la resistencia vascular y flujo sanguíneo pulmonar.

The lung receives blood from the bronchial and the pulmonary circulation. The pulmonary circulation presents important differences with the systemic circulation, its blood vessels have unique characteristics that allow them to fulfill their different functions, the most important being gas exchange. There are multiple factors, active and passive, that are involved in the regulation of vascular resistance and pulmonary blood flow.

Claw disorders as iceberg indicators of cattle welfare: Evidence-based on production system, severity, and associations with final muscle pH.

This study presents a novel approach to use claw disorders in cattle as a retrospective welfare indicator characterized at the abattoir. A total of 1040 cattle (2080 front and back left claws) were analyzed from 143 batches, originating from feedlots, free-range, and dairy systems. Our results indicate that abnormal claw shapes (>55%) and fissures of the claw wall (>25%) had the highest prevalence, regardless of the system of origin. For the seven types of lesions monitored, numerous associations were found between lesions in the front and rear limbs typical of each production system. Ultimate meat pH was higher in animals with white line disease and skin wounds in feedlot and free-range cattle. We conclude that claw disorders can be used as an iceberg indicator to provide valuable information about animal fitness, and the ability to cope with the husbandry and pre-slaughter environment. These indicators can be used to improve the level of welfare of the animals.

Línea espiral del fémur / Spiral line of the femur

La Linea aspera localizada en el margen posterior de la diáfisis del fémur, es considerada una referencia topográfica, imagenológica y antropológica. Hacia la epífisis proximal, esta línea se divide en varias líneas divergentes. De ellas, la rama lateral da inserción al músculo glúteo máximo (Tuberositas glutea), mientras que la rama media da inserción al músculo pectíneo (Linea pectinea). Ambas estructuras se encuentran en Terminologia Anatomica (TA), sin embargo, la rama medial conocida como línea espiral, donde se origina el musculo vasto medial (VM), no se encuentra en TA. Se realizó una revisión de la literatura del área morfológica con el objetivo de recopilar, analizar y verificar el uso del término línea espiral en nóminas, terminologías, textos de anatomía y publicaciones científicas. Se revisaron la Nomina Anatomica de Basilea, Paris Nomina Anatomica y Terminologia anatomica FCAT (2001) y FIPAT (2011). También fueron seleccionados 45 libros y 20 artículos en idiomas inglés y español, con el fin de analizar textos, tablas e imágenes del fémur y/o VM. Se confeccionaron tablas para resumir la información obtenida. Su término no es mencionado en nóminas ni terminologías, sin embargo en la columna de inglés de TA, se utiliza como sinónimo de Linea pectinea. En algunos textos anatómicos y artículos científicos se observa que el término línea espiral se utiliza en relación a la descripción del fémur y/o al origen del VM. El uso del término en textos de anatomía y publicaciones científicas, con fines descriptivos, antropológicos y clínicos, sumado al hecho que dentro de los principios de TA el latín es el idioma oficial y se debe considerar un único nombre por término, con el fin de evitar confusiones, fundamentan la necesidad de incorporar a TA, el término línea espiral (Linea spiralis).

The Linea aspera located on the posterior margin of the femur diaphysis is considered a tomographic, imaging and anthropological reference. To the proximal epiphysis, this line is divided in several divergent lines. Of these, the lateral branch gives insertion to the gluteus maximus muscle (Tuberositas glutea), while the middle branch gives insertion to the pectineal muscle (pectinea line). Both structures are found in Terminologia Anatomica (TA), however the medial branch known as the Spiral Line, where the vastus medial muscle (VM) originates, is not found in TA. We aimed to collect, analyze and verify the level of use of the term Spiral line in terminologies, anatomy texts and scientific publications. Nomina Anatomica from Basilea (BNA), Paris Nomina Anatomica (PNA) y Terminologia anatomica FCAT (2001) and FIPAT (2011) were reviewed. In addition, 45 books and 20 articles in English and Spanish were also selected, in order to analyze text, tables and images of the femur and/or VM. Tables were made to summarize the information obtained. The term is not mentioned in payrolls or terminologies, however in the English column of TA, this term is used as a synonym for Linea pectinea. In some anatomical texts and scientific articles it is observed that the term spiral line is used in relation to the description of the femur and / or the origin of the vast medial. The use of the term in anatomy texts and scientific publications, for descriptive, anthropological and clinical purposes, added to the fact that within the principles of Anatomical Terminology Latin is the official language and should be considered a single name per term, in order to avoid confusion, they base the need to incorporate the term spiral line (Linea spiralis) into TA.

Automated method for detecting and reading seven-segment digits from images of blood glucose metres and blood pressure monitors.

There is an increasing need for fast and accurate transfer of readings from blood glucose metres and blood pressure monitors to a smartphone mHealth application, without a dependency on Bluetooth technology. Most of the medical devices recommended for home monitoring use a seven-segment display to show the recorded measurement to the patient. We aimed to achieve accurate detection and reading of the seven-segment digits displayed on these medical devices using an image taken in a realistic scenario by a smartphone camera. A synthetic dataset of seven-segment digits was developed in order to train and test a digit classifier. A dataset containing realistic images of blood glucose metres and blood pressure monitors using a variety of smartphone cameras was also created. The digit classifier was evaluated on a dataset of seven-segment digits manually extracted from the medical device images. These datasets along with the code for its development have been made public. The developed algorithm first preprocessed the input image using retinex with two bilateral filters and adaptive histogram equalisation. Subsequently, the digit segments were automatically located within the image by two techniques operating in parallel: Maximally Stable Extremal Regions (MSER) and connected components of a binarised image. A filtering and clustering algorithm was then designed to combine digit segments to form seven-segment digits. The resulting digits were classified using a Histogram of Orientated Gradients (HOG) feature set and a neural network trained on the synthetic digits. The model achieved 93% accuracy on digits found on the medical devices. The digit location algorithm achieved a F1 score of 0.87 and 0.80 on images of blood glucose metres and blood pressure monitors respectively. Very few assumptions were made of the locations of the digits on the devices so that the proposed algorithm can be easily implemented on new devices.

Menopausia y terapia hormonal de la menopausia. Las recomendaciones 2018 de la Unidad de Endocrinología Ginecológica de Clínica Alemana de Santiago -Sociedad Italiana de la Menopausia y la Sociedad Chilena de Endocrinología Ginecológica / Menopause and menopausal hormone therapy. The 2018 recommendations of the Gynecological Endocrinology Unit of Clínica Alemana de Santiago -Italian Society of Menopause and the Chilean Society of Gynecological Endocrinology

ABSTRACT In the last decade, the risk benefits ratio of MHT has been evaluated mainly in terms of cardiovascular risk. Present Consensus Statement is largely inspired by the Global Consensus on Menopausal Hormone Therapy in 2013 and 2016 by leading global menopause societies (The American Society for Reproductive Medicine, The Asia Pacific Menopause Federation, The Endocrine Society, The European Menopause and Andropause Society, The International Menopause Society, The International Osteoporosis Foundation and The North American Menopause Society). The aim of these Recommendations is to provide a simple and updated reference on postmenopausal MHT. The term MHT typically includes estrogen replacement therapy (ERT) and estrogen-progestogen therapy (EPT). EPT can be sequential (Seq) when progestogen is added to ERT for 10-14 days a month, or continuous combined (CC) when progestogen is administered continuously every day along with a fixed amount of estrogen. MHT also includes Tibolone and the Tissue Selective Estrogen Complex (TSEC).

Descriptive characteristics of the area of origin of the deltoid muscle on the human clavicle. Is it necessary to include new terms in the Terminologia Anatomica?

The clavicular portion of the deltoid muscle (CPDM) in the human clavicle does not have a nomenclature in the Terminologia Anatomica (TA). This area is relevant in anatomy since the muscle participates in motions of glenohumeral articulation. The aim of this study was to describe the origin of the CPDM and to propose a name for the structure. Dry clavicles of 176 adults were studied, without distinction by sex. An osteometric board was used to measure the maximum length of the clavicles and a digital caliper to measure length of the CPDM's origin, distance from the origin to the sternal end, distance from the origin to the acromial end, distance of the lateral third and middle vertical diameter. The mean of maximum of the distances and CPDM's origin of left/right clavicle do not present significant differences. The CPDM s origin showed a high prevalence of structures as groove and roughened area (over 96% of cases). In conclusion, our definition of the CPDM shows the importance of clearly describing the observed groove and roughened area. Due to the high prevalence of the structures, the authors suggest that the terms "sulcus musculi deltoidei" and "tuberositas musculi deltoidei" be included in the TA to denominate the CPDM's origin on the human clavicle.

Long-distance transport of hair lambs: effect of location in pot-belly trailers on thermo-physiology, welfare and meat quality.

Livestock transport exposes animals to a range of potential stressors that may compromise their welfare and final product quality, and those effects typically increase with the distance travelled. In North America, producers often use pot-belly vehicles for long hauls but little is known about their suitability for transporting lambs. We followed two long-distance trips using pot-belly trailers carrying 500 lambs (each) from Northern to Central Mexico in winter, to measure possible effects on animal welfare and meat quality. Sixty lambs per trip were placed at different locations within the pot-belly trailer. Animals were equipped with iButton Thermochron® temperature devices, which registered body temperature throughout pre- and post-slaughter stages. Despite the rather cool winter conditions, lambs placed in the "belly" and "nose" compartments had higher body temperatures at loading, during transport and lairage and after slaughter (carcass temperature). Those lambs also had higher levels of plasma cortisol, glucose and creatine kinase (CK), and a higher neutrophil/lymphocyte ratio. Regarding meat quality, ultimate pH (24 h) was higher in all locations, especially in LT4 location. Overall, the results suggest a link between thermal stress during transport, elevated physiological indicators of stress and poorer meat quality.

Thermophysiological, haematological, biochemical and behavioural stress responses of sheep transported on road.

The study was conducted to evaluate the thermophysiological, haematological, biochemical and behavioural stress responses of sheep transported on road. A total of 44 Chamarita breed adult ewes were randomly allotted to one of two groups, one control group (untransported) and transported group (journey of 4 h), and blood stress indicators were measured 1 day before transport and at four time points post-transport (0, 4 and 24 h). Thermophysiological profiles of ewes were measured by temperature buttons (iButton Thermochron® ) and placed in intravaginal sponges. Direct observations, with a combination of scan and behaviour sampling, were carried out to collect information on individual behaviour and the time it took the ewes to drink water, eat and rest after returning to their pen respectively. Transported ewes lost approximately 1 kg live weight compared to controls and had higher body temperatures until 12 h post-transport. Cortisol, glucose, non-esterified fatty acid (NEFA) concentrations as well as the neutrophil-lymphocyte ratio (N/L) and other physiological indicators were higher immediately after unloading in transported ewes but mostly returned to normal after 4 h, with complete recovery after 24 h. Behavioural analysis post-transport demonstrated that transported ewes chose to eat before drinking and spent less time resting than controls in the first 3 h after unloading. The study demonstrates that transportation even under short-journey conditions induced behavioural, physiological and thermophysiological responses indicative of the induction of significant stress, leading to live weight shrinkage that may jeopardize farmer's incomes. Finally, results of this study validated the use of iButton Thermochron® data loggers for monitoring the stress response during transport.

Efficacy and safety of withholding antimicrobial treatment in children with cancer, fever and neutropenia, with a demonstrated viral respiratory infection: a randomized clinical trial.

OBJECTIVES: To determine efficacy and safety of withholding antimicrobials in children with cancer, fever and neutropenia (FN) with a demonstrated respiratory viral infection. METHODS: Prospective, multicentre, randomized study in children presenting with FN at five hospitals in Santiago, Chile, evaluated at admission for diagnosis of bacterial and viral pathogens including PCR-microarray for 17 respiratory viruses. Children positive for a respiratory virus, negative for a bacterial pathogen and with a favourable evolution after 48 h of antimicrobial therapy were randomized to either maintain or withhold antimicrobials. Primary endpoint was percentage of episodes with uneventful resolution. Secondary endpoints were days of fever/hospitalization, bacterial infection, sepsis, admission to paediatric intensive care unit (PICU) and death. RESULTS: A total of 319 of 951 children with FN episodes recruited between July 2012 and December 2015 had a respiratory virus as a unique identified microorganism, of which 176 were randomized, 92 to maintain antimicrobials and 84 to withdraw. Median duration of antimicrobial use was 7 days (range 7-9 days) versus 3 days (range 3-4 days), with similar frequency of uneventful resolution (89/92 (97%) and 80/84 (95%), respectively, not significant; OR 1.48; 95% CI 0.32-6.83, p 0.61), and similar number of days of fever (2 versus 1), days of hospitalization (6 versus 6) and bacterial infections throughout the episode (2%-1%), with one case of sepsis requiring admission to PICU in the group that maintained antimicrobials, without any deaths. CONCLUSIONS: The reduction of antimicrobials in children with FN and respiratory viral infections, based on clinical and microbiological/molecular diagnostic criteria, should favour the adoption of evidence-based management strategies in this population.

Mexican consumers' perceptions and attitudes towards farm animal welfare and willingness to pay for welfare friendly meat products.

Increasing concerns about farm animal welfare have led to an increase in the availability of welfare-friendly-products (WFP), but little is known about how much more consumers are willing-to-pay (WTP) for WFP or about their buying trends in Latin America. In this study, a survey was given to 843 meat consumers in the city of Toluca, Mexico. The results show that consumers were interested in farm animal welfare issues and their ethical, sociological and economic implications, as in Europe. The people surveyed also conveyed a high level of empathy with animal feelings and emotions, however they clearly demanded more information and regulations related to farm animal welfare. The majority of respondents expressed that they were WTP more for properly certified WFP, but mostly based on the benefits in terms of product quality and human health. If the demand for WFP begins to increase in Mexico, the supply chain should consider a certification system to guarantee product origin based on current conditions.

Assessment of chronic effects of tebuconazole on survival, reproduction and growth of Daphnia magna after different exposure times.

The effect of the fungicide tebuconazole (0.41, 0.52, 0.71 and 1.14mg/L) on survival, reproduction and growth of Daphnia magna organisms was monitored using 14 and 21 days exposure tests. A third experiment was performed by exposing D. magna to the fungicide for 14 days followed by 7 days of recovery (14+7). In order to test fungicide effects on D. magna, parameters as survival, mean whole body length, mean total number of neonates per female, mean number of broods per female, mean brood size per female, time to first brood/reproduction and intrinsic rate of natural increase (r) were used. Reproduction was seriously affected by tebuconazole. All tebuconazole concentrations tested affected the number of broods per female and day to first brood. At 14-days test, number of neonates per female and body size decreased by concentrations of tebuconazole higher than 0.52mg/L, whereas at 21-days test both parameters were affected at all the concentrations tested. Survival of the daphnids after 14 days fungicide exposure did not exhibited differences among experimental and control groups. In this experiment r value was reduced (in a 22%) when animals were exposed to concentrations of 0.71mg/L and 1.14mg/L. Survival of daphnids exposed during 21 days to 1.14mg/L declined, and the intrinsic rate of natural increase (r) decreased in a 30 % for tebuconazole concentrations higher than 0.41mg/L. Longevity of daphnids pre-exposed to tebuconazole for 14 days and 7 days in clean water did not show differences from control values and all of them survived the 21 days of the test. However, after 7 days in fungicide free medium animals were unable to restore control values for reproductive parameters and length. The maximum acceptable toxicant concentration (MATC) was calculated using the r values as parameter of evaluation. MATC estimations were 0.61mg/L and 0.46mg/L for 14 and 21 days, respectively. Results showed that the number of neonates per female was the highest sensitive parameter to the effects of tebuconazole on D. magna. On the other hand, a recovery period of 7 days in a free toxicant medium would not be longer enough to reestablish normal reproduction parameters in pre-exposed tebuconazole daphnids.

Livestock transport from the perspective of the pre-slaughter logistic chain: a review.

New developments in livestock transport within the pre-slaughter chain are discussed in terms of three logistic nodes: origin, stopovers and slaughterhouse. Factors as transport cost, haulier, truck specifications, micro-environment conditions, loading density, route planning, vehicle accidents and journey length are discussed as well as causes of morbidity, mortality, live weight and carcass damage. Taking into account current trends towards increased transport times, logistics stopovers and mixed transport, there is a need to develop systems of evaluation and decision-making that provide tools and protocols that can minimize the biological cost to animals, which may have been underestimated in the past.

Non-contact video-based vital sign monitoring using ambient light and auto-regressive models.

Remote sensing of the reflectance photoplethysmogram using a video camera typically positioned 1 m away from the patient's face is a promising method for monitoring the vital signs of patients without attaching any electrodes or sensors to them. Most of the papers in the literature on non-contact vital sign monitoring report results on human volunteers in controlled environments. We have been able to obtain estimates of heart rate and respiratory rate and preliminary results on changes in oxygen saturation from double-monitored patients undergoing haemodialysis in the Oxford Kidney Unit. To achieve this, we have devised a novel method of cancelling out aliased frequency components caused by artificial light flicker, using auto-regressive (AR) modelling and pole cancellation. Secondly, we have been able to construct accurate maps of the spatial distribution of heart rate and respiratory rate information from the coefficients of the AR model. In stable sections with minimal patient motion, the mean absolute error between the camera-derived estimate of heart rate and the reference value from a pulse oximeter is similar to the mean absolute error between two pulse oximeter measurements at different sites (finger and earlobe). The activities of daily living affect the respiratory rate, but the camera-derived estimates of this parameter are at least as accurate as those derived from a thoracic expansion sensor (chest belt). During a period of obstructive sleep apnoea, we tracked changes in oxygen saturation using the ratio of normalized reflectance changes in two colour channels (red and blue), but this required calibration against the reference data from a pulse oximeter.

Effects of an enriched housing environment on sensory aspects and fatty-acid composition of the longissimus muscle of light-weight finished lambs.

We analysed the effect of enriched housing on the sensory meat quality and fatty acid composition of longissimus muscle in 60 entire Rasa Aragonesa lambs, housed indoors for 5 weeks in six pens (10 lambs/pen, 0.95 m(2)/lamb, initial weight 17.13±0.18 kg and carcass mean 12.23±0.23 kg); three control pens (barren) and three enriched pens (straw, platform with ramps and a small ramp). The final weight, carcass weight, fatness scores and cooking losses of meat from enriched lambs (EG) were higher and pH 24 was lower (P ≤ 0.05). The EG lambs had more C18:0 and total SFA (P ≤ 0.05). Lamb odour and grass odour were more intense in EG (P ≤ 0.05). Overall liking was higher for EG (P ≤ 0.05) and associated with tenderness (P ≤ 0.0001). The results suggest that environmental enrichment can have effects on fatty acid composition and sensory meat quality.

Effect of enriched housing on welfare, production performance and meat quality in finishing lambs: the use of feeder ramps.

This study analyses the effect of environmental enrichment on the welfare, productive traits and meat quality of lambs housed in feedlots. Sixty lambs were placed in enriched (EE) or conventional (CO) pens (3 pens for each treatment, 10 lambs/pen) where EE had a wooden platform with ramps that provided access to a concentrate hopper, cereal straw as bedding and forage, and one play ramp. The CO pen was barren, similar to commercial feedlots. The physiological adaptation response of EE lambs was more efficient than CO, since the latter mobilised more body reserves (i.e., increased NEFA, P<0.05), and had lower levels of immunity (i.e., increased N/L, P<0.05), which indicate chronic stress, probably associated with the barren environment. The EE lambs had a higher (P<0.05) average daily gain, with heavier carcasses and higher fattening scores, as well as lower pHult, higher L and b values, and lower values of texture (P<0.05).

Targeting Wnt-driven cancer through the inhibition of Porcupine by LGK974.

Wnt signaling is one of the key oncogenic pathways in multiple cancers, and targeting this pathway is an attractive therapeutic approach. However, therapeutic success has been limited because of the lack of therapeutic agents for targets in the Wnt pathway and the lack of a defined patient population that would be sensitive to a Wnt inhibitor. We developed a screen for small molecules that block Wnt secretion. This effort led to the discovery of LGK974, a potent and specific small-molecule Porcupine (PORCN) inhibitor. PORCN is a membrane-bound O-acyltransferase that is required for and dedicated to palmitoylation of Wnt ligands, a necessary step in the processing of Wnt ligand secretion. We show that LGK974 potently inhibits Wnt signaling in vitro and in vivo, including reduction of the Wnt-dependent LRP6 phosphorylation and the expression of Wnt target genes, such as AXIN2. LGK974 is potent and efficacious in multiple tumor models at well-tolerated doses in vivo, including murine and rat mechanistic breast cancer models driven by MMTV-Wnt1 and a human head and neck squamous cell carcinoma model (HN30). We also show that head and neck cancer cell lines with loss-of-function mutations in the Notch signaling pathway have a high response rate to LGK974. Together, these findings provide both a strategy and tools for targeting Wnt-driven cancers through the inhibition of PORCN.

Dos nuevas mutaciones en el gen que codifica la alfa-glucosidasa ácida en un adolescente con enfermedad de Pompe de inicio tardío / Two new mutations in the gene that codes for acid alpha-glucosidase in an adolescent with late-onset Pompe disease

Introducción. La glucogenosis tipo II o enfermedad de Pompe es una enfermedad lisosomal con un patrón de herencia autosómico recesivo. La enfermedad de Pompe de inicio tardío es una miopatía metabólica progresiva causada por una disminución de la actividad de la enzima alfa-glucosidasa ácida (GAA), lo que origina una disminución de la degradación y posterior acúmulo del glucógeno dentro de los lisosomas y el citoplasma celular. Caso clínico. Adolescente venezolano, de 16 años, diagnosticado de glucogenosis tipo II o enfermedad de Pompe, de comienzo tardío, basado en la clínica del paciente y los hallazgos bioquímicos. La atrofia muscular de los miembros superiores e inferiores era evidente y presentaba maniobra de Gowers positiva. Los niveles séricos de creatincinasa eran elevados. Su capacidad funcional respiratoria estaba disminuida. La cuantificación de la actividad enzimática de la GAA en papel de filtro no mostraba una disminución significativa de la actividad. El análisis genético molecular reveló la existencia de dos mutaciones en condición homocigótica en el gen GAA, c.547-67C>G y c.547-39T>G, ambas en el exón 2 del cromosoma 17. De acuerdo con la base de datos del genoma humano y la revisión emprendida, los cambios detectados en este paciente representan nuevas mutaciones en el gen GAA. Esta afirmación está en concordancia con la clínica y cambios bioquímicos encontrados en el paciente. Conclusión. Es obligatorio el estudio genético molecular en un paciente en el que se sospecha la enfermedad (AU)

Introduction. Glycogen storage disease type II, or Pompe disease, is a lysosomal disease with an autosomal recessive pattern of inheritance. Late-onset Pompe disease is a progressive metabolic myopathy caused by decreased activity of the enzyme acid alpha-glucosidase (GAA), which gives rise to reduced degradation and later accumulation of glycogen in the lysosomes and cell cytoplasm. Case report. A 16-year-old Venezuelan male, diagnosed with late-onset glycogen storage disease type II, or Pompe disease, based on the patient’s clinical picture and the biochemical findings. The patient presented unmistakable signs of muscular atrophy in the upper and lower limbs, as well as positive Gowers’ sign. Levels of creatinkinase in serum were high. His functional respiratory capacity was diminished. The quantification of the enzymatic activity of acid alpha-glucosidase on filter paper did not show any significant decrease in activity. A molecular genetic analysis revealed the existence of two homozygotic mutations in the gene GAA, c.547-67C>G and c.547-39T>G, both on exon 2 of chromosome 17. According to the human genome database and the review that was undertaken, the changes detected in this patient represent new mutations in the acid alpha-glucosidase gene, GAA. This claim is in agreement with the clinical features and biochemical changes found in the patient. Conclusion. A molecular genetic study is mandatory in patients suspected of having this disease (AU)

Influence of social dominance on production, welfare and the quality of meat from beef bulls.

The aim of this study was to assess the effect of social dominance on some indicators of welfare, production and meat quality of young bulls. A total of 60 bulls of the Gasconne breed, 9 months old, housed indoors were used. Indices of success order were calculated to reflect social dominance of each bull into three ranking categories (low, middle and high). Blood samples were taken to measure cortisol, lactate, glucose, creatine kinase, non-esterified fatty acid and neutrophil/lymphocyte ratio (N/L). M. longissimus samples were analysed in terms of pH, water holding capacity (WHC), texture, colour and sensorial attributes. Social rank influenced cattle stress response, which had an effect on productive performance but not on meat quality traits, with the exception of the sensory traits. These results emphasize the importance of implementing best management practices during pre-harvest handling of cattle in order to modulate any possible risk factor for social stress.