[Safety and efficacy of a therapeutic exercise program in young adults with repaired congenital diaphragmatic hernia]. / Seguridad y eficacia de un programa de ejercicio terapéutico en jóvenes intervenidos de hernia diafragmática congénita.

INTRODUCTION AND OBJECTIVE: Patients with congenital diaphragmatic hernia (CDH) can have up to 40 times more frequency of muskuloskeletal deformities and decreased perception of physical activity tan their pairs. The objective of this study is to evaluate the safety and efficacy of an individualized exercise program in late adolescents and young adults with repaired CDH, as well as a description of their basal status. MATERIAL AND METHODS: Non randomized prospective trial of 13 patients with repaired CDH between 1997-2005. An initial physical exploration and a pre-post assessment of bioimpedance (BIA), dynamometry, maximal inspiratory and expiratory pressure (MIP/MEP), 6-minute walk test (6MWT), physical activity level (IPAQ) and quality of life (QoL) was made. The training program last for 4 weeks. For the statistical analysis, the Student's t test for paired samples and Wilcoxon test were used. RESULTS: 77% (n=10) were male with a mean age of 19.23±2.13 years. In baseline BIA, 62% (n=8) had truncal sarcopenia that improved in -0.43±0.58, and P=.016. MIP, MEP, 6MWT and QoL tests increased by -7.27±8.26 cmH2O, P=.008; -11.91±10.20 cmH2O, P=.002; -70.63±17.88 m, P=.001; -42,19±26.79, P=.00 respectively. The IPAQ did not change significantly (P=0.86), however the time dedicated to muscle strengthening increased. No adverse effects were reported. CONCLUSIONS: A personalized rehabilitation program is safe and could improve the respiratory muscle strength and truncal sarcopenia as well as the submaximal effort capacity in late adolescents and young adults with repaired CDH.

Pregabalina preoperatoria previene las fasciculaciones y mialgias inducidas por succinilcolina: metaanálisis de ensayos aleatorizados / Preoperative pregabalin prevents succinylcholine-induced fasciculations and myalgias: A meta-analysis of randomized trials

La succinilcolina es el bloqueador neuromuscular de referencia para la inducción de secuencia rápida. Sin embargo, su uso se asocia a fasciculaciones y mialgias. Se realizó una revisión sistemática y un metaanálisis. Se incluyeron ensayos clínicos controlados aleatorizados comparando gabapentinoides frente a placebo, para la prevención de fasciculaciones y mialgias inducidas por succinilcolina. Se incluyeron seis estudios clínicos aleatorizados. El número total de pacientes fue de 481, de los cuales 241 se incluyeron en el grupo de intervención y 240 en el grupo de placebo. Los gabapentinoides redujeron la incidencia de mialgia inducida por succinilcolina (RR=0,69; IC95%: 0,56-0,84; p<0,001), que siguió siendo estadísticamente significativa para pregabalina (RR=0,71; IC95%: 0,54-0,93; p=0,013) y gabapentina (RR=0,61; IC95%: 0,45-0,82; p=0,001) por separado. No hubo diferencia entre los grupos en cuanto a fasciculaciones (RR=0,92; IC95%: 0,82-1,03; p=0,148). El uso preoperatorio de gabapentinoides se asocia a una menor incidencia de mialgias inducidas por succinilcolina dentro de las primeras 24horas posteriores al procedimiento. (AU)

Succinylcholine is the gold standard neuromuscular blocker for rapid sequence induction, however, its use is associated with fasciculations and myalgias. A systematic review and meta-analysis including randomized controlled clinical trials was performed comparing gabapentinoids versus placebo for the prevention of fasciculations and succinylcholine-induced myalgias. Six randomized clinical studies were included. The total number of patients was 481, of which 241 were in the intervention group and 240 in the placebo group. Gabapentinoids reduced the incidence of succinylcholine-induced myalgia (RR=.69; 95%CI: .56-.84; P<.001), which remained statistically significant for pregabalin (RR=.71; 95%CI: .54-.93; P=.013) and gabapentin (RR=.61; 95%CI: .45-.82; P=.001) separately. There was no difference between the groups in fasciculations (RR=.92; 95%CI: .82-1.03; P=.148). Preoperative use of gabapentinoids is associated with lower incidence of succinylcholine-induced myalgias within the first 24hours after the procedure. (AU)

Indoor radon risk mapping of the Canary Islands using a methodology for volcanic islands combining geological information and terrestrial gamma radiation data.

Within the framework of the recent approval of the National Plan Against Radon by the Council of Ministers of the Spanish Government, one of its five axes focuses on the delimitation of priority action areas. In line with this objective, this paper presents the indoor radon risk maps of the Canary Islands. Due to the volcanic origin of the Canary Islands, there is a great deal of geological heterogeneity in the soils on which buildings settle, making it very difficult to delimit radon-risk areas in the process of creating maps. Following a methodology developed in previous works for a study area formed of a set of representative municipalities, this paper presents radon risk maps of the Canary Islands based on lithostratigraphic information and high-resolution terrestrial gamma radiation maps. The goodness of fit of these maps is verified based on a statistical analysis of indoor radon concentration measurements carried out at representative building enclosures. In order to analyse the level of risk to the population, these maps were combined with built up areas (urban fabric) maps and estimations of the annual effective doses due to radon was obtained by applying a dosimetric model. This methodology improves the capability to delimit indoor radon risk areas, with a greater margin of safety. In this respect, it is estimated that areas classified as low risk have indoor radon concentrations 41 % below the current reference level of 300 Bq/m3 established by national regulations in compliance with the precepts laid down in the European EURATOM Directive.

Preoperative pregabalin prevents succinylcholine-induced fasciculation and myalgia: A meta-analysis of randomized trials.

Succinylcholine is the gold standard neuromuscular blocker for rapid sequence induction; however, its use is associated with fasciculation and myalgia. We performed a systematic review and meta-analysis of randomized controlled clinical trials comparing gabapentinoids versus placebo for the prevention of fasciculations and succinylcholine-induced myalgias. Six randomized clinical studies were included with a total of 481 patients - 241 in the intervention group and 240 in the placebo group. Gabapentinoids reduced the incidence of succinylcholine-induced myalgia (RR = 0.69, 95% CI 0.56-0.84, P < .001), which remained statistically significant for pregabalin (RR = 0.71, 95% CI 0.54-0.93, P = .013) and gabapentin (RR = 0.61, 95% CI 0.45-0.82, P = .001) separately. There was no difference in fasciculations between the groups (RR = 0.92, 95% CI 0.82-1.03, P = .148). Preoperative use of gabapentinoids is associated with lower incidence of succinylcholine-induced myalgias within the first 24 h of surgery.

Multiparametric analysis for the determination of radon potential areas in buildings on different soils of volcanic origin.

The transposition of the European EURATOM directive into the regulations of the different member states of the European Union involved governments making great efforts to define priority action maps against indoor radon exposure in buildings over a short time period. In Spain, the Technical Building Code established 300 Bq/m3 as a reference level and set up a classification of municipalities in which remediation measures should be adopted for radon exposure in buildings. Oceanic volcanic islands, such as the Canary Islands, present high geological heterogeneity in a small space due to their volcanic origin. This variability poses a challenge to the elaboration of radiological risk maps, which makes it necessary to have a high density of data to collect local variations. This paper presents a methodology to obtain accurate radon risk maps based on geological criteria and terrestrial gamma radiation. The predictive efficiency of these maps is statistically verified using indoor radon concentration data measured in buildings. Other radiological variables, which are commonly used as criteria for radon risk prediction found in the literature, were also applied, such as the geogenic radon potential and the activity concentration of natural radioisotopes in soils. The higher resolution of the maps obtained allows for a more detailed classification of radon risk zones in the study area than the current risk maps published in the Spanish building regulations.

Bioremoval of copper by filamentous fungi isolated from contaminated soils of Puchuncaví-Ventanas Central Chile.

Pollution represents a high risk to plants, animals, and human beings, causing an imbalance and affecting the environment. Soil is considered a universal sink, containing the highest load of environmental pollution. Puchuncaví-Ventanas sector, decreed as a saturated contamination zone in 1993, is considered one of the most affected areas by industrial pollution and belongs to one of the 5 sacrifice zones of Chile. The localities of Puchuncaví and Ventanas have heavy metal pollution levels that exceed up to 99% of the limits allowed by Canadian standards. The objective of this study was to characterize heavy metal tolerance and removal potential of filamentous fungi isolated from polluted soils for their use in decontamination systems and in situ soil improvement. Six fungal strains were selected based on their tolerance and a high capability to accumulate heavy metals, achieving copper bioaccumulation of 84% (Mortierella sp. strain LG01), 49% (Clonostachys sp. strain CQ23) and 48-77.5% (Trichoderma sp. strain LM01A). Trichoderma sp. strain LM01A was able to remove 41% of copper from contaminated soil under ex situ conditions. Some fungal strains belong to beneficial fungal genera, which are used as bioproducts in agriculture. The results of this study highlighted the use of Trichoderma sp. in soils contaminated, which may be of special interest in agriculture due to the large amounts of copper sulfate still applied as a pesticide in Chile and the world.

Animal welfare evaluation at slaughterhouses for pigs at the "Eje Cafetero" region in Colombia.

Within the insensitization by electronarcosis and the bleeding processes performed at the pig's slaughterhouses, there are some factors that hinder the achievement of an adequate slaughter of these animals, being this a critical phase in which animal welfare must be guaranteed; the objective of this study was to evaluate and compare the efficiency of insensitization by electronarcosis and two types of bleeding direction (horizontal and vertical). Dependent variables were measured as indicators of animal welfare (absence of the corneal reflex, absence of reflex of sensitivity to painful stimuli, attempts to reinstatement or posture recovery and vocalization), after the stunning and bleeding process, in four slaughterhouses of national category in "Eje Cafetero", Colombia. The methodological approach included the binomial distribution, descriptive statistics, hypothesis testing and statistical significance. The results show that the efficiency of the insensitization procedures and type of bleeding direction depends on multiple aspects, including the tranquility of the animals during their handling, the correct position of the insensitization clamps, the amperage used and the time between insensitization and bleeding. In this way, the analysis of possible preventive and/or corrective measures includes: Continuous training and supervision of the personnel in charge of carrying out the procedures, the need to immobilize pigs prior to their insensitization process, the continuous monitoring of process variables and the appropriate vascular cutting that ensures animal's death prior to their entrance into the scalding machine.

Efficacy of non-antibiotic treatment options for digital dermatitis on an organic dairy farm.

The objective of this study was to evaluate the efficacy of two non-antibiotic treatment options for digital dermatitis (DD) on an organic certified dairy farm. A randomized clinical trial was conducted using 70 multiparous Holstein cows with an early DD lesion at a USDA certified organic dairy farm in Northern Colorado, USA. Cows were enrolled in the study based on the presence of early DD lesions (scores M1 and M2) and randomly assigned to one of three treatments: (1) topical application of copper sulfate and iodine (CUI); (2) topical application of honey and iodine (HOI); and (3) control subject to no treatment (CON). Cows were evaluated at enrolment and on days 3, 12, 28, and 120 post treatment for pain and lesion size and received a locomotion and a lesion score. Cure was defined as the transition from active to non-active stages (M1/M2 to M0 or M4). The formulations had variable effects on the treatment of DD. The cure rate was numerically higher for CUI on all follow up days. The proportion of cows experiencing pain on d3 after treatment was greater in CON, followed by HOI and CUI. However, this proportion increased in HOI during the follow up period. The CUI group had a greater reduction in lesion size and larger lesions persisted in HOI. Non-antibiotic treatment formulations were partially effective in the treatment of DD in organic dairy cows: The two non-antibiotic formulations resulted in an earlier transition to mature lesions compared with the control group. The CUI combination was the most effective treatment in reducing lesion size, pain, and lameness in affected cows. However, this combination had short-term efficacy, which did not persist throughout the duration of the study. The HOI combination produced only transient reduction in lesion size.

The expression level of SOX2 at the blastocyst stage regulates the developmental capacity of bovine embryos up to day-13 of in vitro culture.

Quality of in vitro-produced embryos is influenced by changes in gene expression in response to adverse conditions. Gene markers for predicting 'good embryos' do not exist at present. We propose that the expression of pluripotency markers OCT4-SOX2-NANOG in D9 (day 9) bovine demi-embryos correlated with development at D13 (day 13). Day 8 in vitro-produced blastocysts were split in two cloned halves, one half (D9) was subjected to analysis of pluripotency markers and the other was kept in culture until D13 of development. Embryo development was scored and correlated with its own status at D9 and assigned to one of two categories: G1, arrested/dead; or G2, development up to D13. SOX2 and NANOG expression levels were significantly higher in embryos from G1 and there was also negative correlation between SOX2 and embryo survival to D13 (G3; r = -0.37; P = 0.03). We observed a significant reduction in the expression of the three studied genes from D9 to D13. Furthermore, there was a correlation between the expression of pluripotency markers at D9 and embryo diameter and the expression of trophoblastic markers at D13 (TP1-EOMES-FGF4-CDX2-TKDP1). Finally, the quotient between the relative expression of SOX2 and OCT4 in the D9 blastocysts from G1 and G2 showed that embryos that were considered as competent (G2) had a quotient close to one, while the other group had a quotient of 2.3 due to a higher expression of SOX2. These results might indicate that overexpression of SOX2 at the blastocyst stage had a negative effect on the control of embryonic developmental potential.

Performance and carcass characteristics of steers fed with two levels of metabolizable energy intake during summer and winter season.

Climate change is producing an increase on extreme weather events around the world such as flooding, drought and extreme ambient temperatures impacting animal production and animal welfare. At present, there is a lack of studies addressing the effects of climatic conditions associated with energy intake in finishing cattle in South American feed yards. Therefore, two experiments were conducted to assess the effects of environmental variables and level of metabolizable energy intake above maintenance requirements (MEI) on performance and carcass quality of steers. In each experiment (winter and summer), steers were fed with 1.85 or 2.72 times of their requirements of metabolizable energy of maintenance. A total of 24 crossbred steers per experiment were used and located in four pens (26.25 m2/head) equipped with a Calan Broadbent Feeding System. Animals were fed with the same diet within each season, varying the amount offered to adjust the MEI treatments. Mud depth, mud scores, tympanic temperature (TT), environmental variables, average daily gain, respiration rates and carcass characteristics plus three thermal comfort indices were collected. Data analysis considered a factorial arrangement (Season and MEI). In addition, a repeated measures analysis was performed for TT and respiration rate. Mean values of ambient temperature, solar radiation and comfort thermal indices were greater in the summer experiment as expected (P<0.005). The mean values of TT were higher in steers fed with higher MEI and also in the summer season. The average daily gain was greater during summer v. winter (1.10±0.11 v. 0.36±0.06) kg/day, also when steers were fed 2.72 v. 1.85 MEI level (0.89±0.12 v. 0.57±0.10) kg/day. In summer, respiration rate increased in 41.2% in the afternoon. In winter, muddy conditions increased with time of feeding, whereas wind speed and rainfall had significant effects on TT and average daily gain. We conclude that MEI and environmental variables have direct effects on the physiology and performance of steers, including TT and average daily gain, particularly during the winter. In addition, carcass characteristics were affected by season but not by the level of MEI. Finally, due to the high variability of data as well as the small number of animals assessed in these experiments, more studies on carcass characteristics under similar conditions are required.

Natural radioactivity in algae arrivals on the Canary coast and dosimetry assessment.

Nowadays, the use of wild and culture harvest seaweed in food industry is a booming productive sector. In this context, a radiological characterization of five globally common seaweed species that were collected in arrival on Gran Canaria coast was carried out. The studied algae species were Cymopolia barbata, Lobophora variegata, Sargassum vulgare, Dictyota dichotoma and Haliptilon virgatum. Radionuclides analysed by alpha and gamma spectrometry were 238U, 234U, 235U, 210Po, 234Th, 226Ra, 210Pb, 228Th, 224Ra, 40K and 7Be. Activity concentrations, ratios, and concentration factors (CF) were determined for all samples collected. The CF in algae was higher for reactive-particle radionuclides (210Po, 234Th, 228Th and 210Pb) than for conservative ones (40K and the uranium isotopes). 210Po, 228Th and 234Th CF were one or two orders of magnitude higher than those recommended by the IAEA. L. variegata, C. barbata and S. vulgare showed a clear preference for 210Pb and 210Po, for uranium radioisotopes, and for 40K and 234Th, respectively. A dosimetry assessment due to seaweed ingestion showed considerable values of annual committed effective dose for H. virgatum (605 ±â€¯19 µSv/y), L. variegata (574 ±â€¯17 µSv/y) and D. dichotoma (540 ±â€¯30 µSv/y). Hence, this study suggests that an algae radiological characterization is recommended as part of the product valorising process.

Bioprospecting from marine coastal sediments of Colombian Caribbean: screening and study of antimicrobial activity.

AIMS: To isolate micro-organisms associated with marine coastal sediments of Colombian Caribbean Sea and for evaluating its antimicrobial activity in order to identify the most active strains. METHODS AND RESULTS: One hundred and four strains were isolated from sediment samples of the Colombian Caribbean Sea. First at all, an antimicrobial activity screening was made using agar well diffusion method against the pathogens: Escherichia coli, Staphylococcus aureus, Klebsiella pneumoniae, Candida albicans, Candida tropicalis and Pseudomonas aeruginosa. Seventeen strains showed strong antimicrobial activity and were identified as members of the Streptomyces, Micrococcus and Bacillus genera. Organic extracts were produced by liquid-liquid extraction and HPLC profiles of the most active extracts were obtained. Then, the antimicrobial activity of the extracts was evaluated with the broth microdilution test, finding antimicrobial activities superior to 90% against S. aureus MRSA and C. albicans. HPLC profiles indicated the presence of different antimicrobial compounds. CONCLUSION: This study demonstrates that the microorganisms isolated from the Colombian Caribbean Sea are possible sources of antimicrobial compounds against pathogenic strains. SIGNIFICANCE AND IMPACT OF STUDY: These results contribute to the knowledge of the biotechnological potential of the Colombian biodiversity for the development of pharmaceutical products that can counteract the increasing problem of pathogen resistance.

Solution-combustion synthesis of doped TiO2 compounds and its potential antileishmanial activity mediated by photodynamic therapy.

Photodynamic therapy has emerged as an alternative treatment for cutaneous leishmaniasis, and compounds with photocatalytic behavior are promising candidates to develop new therapeutic strategies for the treatment of this parasitic disease. Titanium dioxide TiO2 is a semiconductor ceramic material that shows excellent photocatalytic and antimicrobial activity under Ultraviolet irradiation. Due to the harmful effects of UV radiation, many efforts have been made in order to enhance both photocatalytic and antimicrobial properties of TiO2 in the visible region of the spectrum by doping or through modifications in the route of synthesis. Herein, Fe-, Zn-, or Pt- doped TiO2 nanostructures were synthesized by solution-combustion route. The obtained compounds presented aggregates of 100 nm, formed by particles smaller than 20 nm. Doping compounds shift the absorption spectrum towards the visible region, allowing production of reactive oxygen species in the presence of oxygen and molecular water when the system is irradiated in the visible spectrum. The Pt (EC50 = 18.2 ±â€¯0.8 µg/mL) and Zn (EC50 = 16.4 ±â€¯0.3 µg/mL) -doped TiO2 presented the higher antileishmanial activities under visible irradiation and their application as photosensitizers in photodynamic therapy (PDT) strategies for the treatment of cutaneous leishmaniasis should be considered.

Evaluating internal and external markers versus fecal sampling procedure interactions when estimating intake in dairy cows consuming a corn silage-based diet.

Feed intake assessment is a valuable tool for herd management decisions. The use of markers, either internal or external, is currently the most used technique for estimating feed intake in production animals. The experiment used 10 multiparous Holstein cows fed a corn silage-based diet, with 55:45 forage-to-concentrate ratio, the average fecal recovery (FR) of TiO2 was higher than FR of Cr2O3, and both FR were more than unity. With internal markers, acetyl bromide lignin and cutin FR were lower than unity, and average FR for indigestible neutral detergent fiber (iNDF) and indigestible acid detergent fiber (iADF) was 1.5. The FR was unaffected by the fecal sampling procedure and appears to be an intrinsic property of each molecule and how it interacts with digesta. Of the 2 external markers, only Cr2O3 produced accurate fecal output (FO) estimates and the same happened to dry matter digestibility (DMD) when iNDF and iADF were used. Estimates for DMD and FO were affected by sampling procedure; 72-h bulk [sub-sample from total feces collection (TFC)] sampling consistently produced accurate results. The grab (sub-samples taken at specific times during the day) sampling procedures were accurate when using either of the indigestible fibers (iNDF or iADF) to estimate DMD. However, grab sampling procedures can only be recommended when concomitant TFC is performed on at least one animal per treatment to determine FR. Under these conditions, Cr2O3 is a suitable marker for estimating FO, and iNDF and iADF are adequate for estimating DMD. Moreover, the Cr2O3+iADF marker pair produces accurate dry matter intake estimates and deserves further attention in ruminant nutrition studies. The method of dosing the external markers is extremely important and greatly affects and determines results. Whichever the method, it must allow the animals to display normal feeding behavior and not affect performance. The grab sampling procedures can replace TFC (once FR is established), which may open new possibilities for pasture-based or collectively housed animals.

Effect of aluminized reflective hutch covers on calf health and performance.

The effect of polyethylene hutches wrapped in aluminized reflective covers (ARC) on health and performance of pre-weaned Holstein heifers during summer was evaluated. Ambient and hutch temperature and temperature-humidity index (THI) were also assessed. The study was conducted from June to October 2016 where temperature, humidity, and THI ranged from -1.3 to 38.4°C, 9.8 to 99.7%, and 33.6 to 81.1 units, respectively. Heifers enrolled at 1 d of life and housed in individual polyethylene hutches with (covered) or without (control) ARC were monitored until 60 d of life in 2 study groups (SG1, n = 94, monitored from June to September; and SG2, n = 101, monitored from August to October 2016). Calves were assessed twice per week for health status, behavior, rectal temperature, and respiratory rate. Similarly, hutch inner wall and sand bedding temperatures were determined for comparison between covered and control hutches housing calves. Four empty hutches per treatment group were continuously monitored for temperature and THI. The odds (95% confidence interval) of presenting diarrhea were 1.30 (1.01-1.60) times greater for calves housed in covered hutches than for those in the control group. Similarly, the odds of an abnormal ear score were 1.40 (1.03-2.00) times greater for calves in covered hutches compared with calves in control hutches. The odds of nasal discharge, eye discharge, and clinical dehydration did not differ between treatment groups. Rectal temperatures and respiratory rates were also similar in both groups. No differences were found in average daily gain between calves housed in covered and control hutches. Calf location determined at a fixed time during the day (starting at 1200 h) was associated with the use of ARC. The odds of remaining inside the hutch were 1.33 (1.03-1.70) times greater for calves housed in control compared with covered hutches. Overall, the average of hutch interior temperature was higher in covered compared with control hutches in both studies (SG1, 23.2 ± 0.06 vs. 22.8 ± 0.06°C; SG2, 17.1 ± 0.07 vs. 16.9 ± 0.07°C). Hutch THI was higher in covered empty hutches compared with control hutches in both study groups (SG1: 68.6 ± 0.06 vs. 67.6 ± 0.06°C; SG2: 60.2 ± 0.08 vs. 59.6 ± 0.08°C). Average temperature (measured at 1200 h) of the inner surface of the hutch wall was lower in covered compared with control hutches by 1°C (24.4 ± 0.13 vs. 25.4 ± 0.13°C), whereas the temperature of the sand bedding did not differ between groups. Our results suggest that the use of ARC did not generate a hutch microclimate that resulted in significant improvements on health and performance of pre-weaned dairy calves under these specific study settings.

Embryo splitting affects the transcriptome during elongation stage of in vitro-produced bovine blastocysts.

Embryo splitting has been used for the production of identical twins and to increase the pregnancy rate per available embryo. Split blastocysts can develop to term; however, little is known about the impact on gene expression of split embryos, especially at the whole transcriptome level. This work was aimed to evaluate the effect of blastocyst splitting on global gene expression profile at the elongation stage. For that, split and time-matched nonsplit (control group) bovine blastocysts were transferred to a bovine recipient and recovered at Day 17 of development. The number of collected embryos, their size, and global gene expression was compared between both groups. From 16 transferred split embryos, six (37.5%) were collected, whereas nine elongated were recovered from 17 nonsplit (52.9%). Neither the recovery rate nor the average length of the elongated embryos was significantly different between both groups. However more than 50% of embryos from the control group had a length surpassing 100 mm, whereas only 33% of the split embryos reached that size. Global gene expression was performed in individual elongated embryos from both groups using Two-Color Microarray-Based Gene Expression Analysis. From detected genes, 383 (1.31%) were differentially expressed between both groups, among them, 185 (0.63%) were downregulated and 198 (0.67%) genes were upregulated in split embryos. Bioinformatic analysis of differentially expressed genes revealed that embryo splitting affects transcriptomes of resulting elongated embryos, mainly downregulating genes involved in matrix remodelation, control of growth, detoxification, and transport of metabolites. These in turns might have a detrimental impact on the developmental potential of produced embryos.

Características clínicas de la niñez menor de cinco años con desnutrición aguda complicada hospitalizados en 36 hospitales de la red de servicios de Salud Pública, año 2014 / Clinical features of children under five years with complicated acute malnutrition hospitalized in 36 hospitals of the public health service network- year 2014

La desnutrición aguda es un problema grave de salud. Actualmente afecta a 52 millones de niños menores de cinco años con prevalencia de 8% a nivel mundial. el riesgo de muerte para niños con desnutrición aguda moderada y severa es de 3 y 9 veces más que los niños con un estado nutricional normal.

Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Peru.

The prevalence of BRCA1 and BRCA2 mutations among breast cancer patients in Peru has not yet been explored. We enrolled 266 women with breast cancer from a National cancer hospital in Lima, Peru, unselected for age or family history. DNA was screened with a panel of 114 recurrent Hispanic BRCA mutations (HISPANEL). Among the 266 cases, 13 deleterious mutations were identified (11 in BRCA1 and 2 in BRCA2), representing 5% of the total. The average age of breast cancer in the mutation-positive cases was 44 years. BRCA1 185delAG represented 7 of 11 mutations in BRCA1. Other mutations detected in BRCA1 included: two 2080delA, one 943ins10, and one 3878delTA. The BRCA2 3036del4 mutation was seen in two patients. Given the relatively low cost of the HISPANEL test, one should consider offering this test to all Peruvian women with breast or ovarian cancer.

Pure 9p trisomy derived from a terminal balanced unreciprocal translocation.

The 9p trisomy is a relatively frequent disorder, while pure 9p trisomies are less frequent and usually derived from 9;22 translocations, duplications or 9p extra chromosomes. Here we report a patient with pure trisomy 9p derived from a terminal balanced unreciprocal translocation. The patient derived to the genetic service by psychomotor delay, presented at 2 years and 11 months: short stature, open anterior fontanelle, dysplastic ears, facial dysmorphisms, long and broad first toes with hypoplastic nails, central nervous system and skeletal alterations. The patient karyotype was: 46,XY,der(10)t(9;10) (p13.1;qter)mat while the mother karyotype was: 46,XX,t(9;10)(p13.1;qter). The presence of the subtelomeric region of 10q showed by FISH as well as the duplication of 9p subtelomere was further confirmed with multiplex ligation dependent probe amplification (MLPA) for the subtelomeric region of all chromosomes. The mechanism of formation seems to be due to a telomere break in 10q leading to loss of telomeric functions, permitting the 9p fusion; this has been supported with molecular probes showing telomere shortening in interstitial telomeric repeats, which are unable to prevent chromosome fusion. This is one of the few cases reported with terminal translocations (not jumping) preserving the subtelomeric region and highlights the importance of subtelomeric probes in terminal arrangements, and the utility of molecular probes, such as MLPA in defining this kind of abnormalities. In the clinical context, the patient presented a high proportion of 9p trisomy features which is expected considering the large 9p segment involved and the presence of the critical region 9p22.