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Summary A considerable number of fatness QTL have been identified in growing pigs, but there is a lack of knowledge about the genetic architecture of this trait in gilts and sows. We have performed a genome scan, in 255 Iberian × Meishan F2 sows, for backfat thickness (BF) at 150 (BF150) and 210 (BF210) days of age, 30 days after conception (BF30) and 7-10 days before farrowing (BFbf). We have found one BF150 QTL in SSC6 (120 cM) that was highly significant ( P < 0.001) at the chromosome-wide level and suggestive at the genome-wide level ( P < 0.1). Ten additional chromosome-wide significant QTL were found for sow BF150 (SSC1, SSC13), BF210 (SSC6, SSC8, SSC15), BF30 (SSC5, SSC6) and BFbf (SSC1, SSC6, SSC13). The location of several of the BF QTL varied depending on the growing and reproductive status of the sow, suggesting that part of these genetic effects may have a temporal pattern of phenotypic expression. [ABSTRACT FROM AUTHOR]

The aim of this study was to investigate chromosomal regions affecting the number of teats in pigs and possible epistatic interactions between the identified quantitative trait loci (QTL). An experimental F2 cross between Iberian and Chinese Meishan lines was used for this purpose. A genomic scan was conducted with 117 markers covering the 18 porcine autosomes. Linkage analyses were performed by interval mapping using an animal model to estimate QTL and additive polygenic effects. Complementary analyses with models fitting two QTL were also carried out. The results showed three genomewide significant QTL mapping on chromosomes 5, 10 and 12, whose joint action control up to 30% of the phenotypic variance of the trait. Meishan alleles had a positive additive effect on teat number, and a positive-additive × additive-epistatic interaction was detected between QTL on chromosomes 10 and 12. [ABSTRACT FROM AUTHOR]

The Bayes factor (BF) procedure was applied to examine the additive genetic component of several physiological and vitality variables for newborn pigs. Nine variables were studied: heart rate, arterial oxygen saturation, rectal temperature (all at birth and 60 mm later), birth weight, interval between birth and first teats contact, and interval between birth and first colostrum intake. The available numbers of data ranged from 288 (heart rate at 60 mm) to 839 records (birth weight) from F2 Iberian × Meishan newborn pigs. We compared a model with zero heritability (nonheritable) with the one where the additive genetic background was included. The BF was used to discriminate between both candidate models. Very strong evidence of genetic background was detected for heart rate 60 mm after birth (BF = 48.90), and strong evidence was detected for rectal temperature at birth (BF = 13.82). Posterior modes (means) of heritabilities were 0.29 (0.32) and 0.40 (0.39), respectively. In addition, substantial evidence of absence of genetic background was detected for arterial oxygen saturation at birth. [ABSTRACT FROM AUTHOR]

Iberian × Meishan F2 piglet's preweaning survivability was analyzed using categorical data regression procedures within the proportional hazards assumption. A frailty sire model was assumed with the litter effect treated as an additional random source of variation. Moreover, the relative birth weight within litter and the litter effect were considered time-dependent covariates that changed their values in the second day of life due to cross fostering carried out to standardize litters. Six variables had a significant effect on survivability: birth weight (P < 0.01), relative birth weight within litter (P < 0.001), rectal temperature 60 min after birth (P < 0.01), type of presentation at birth (P < 0.05), presence of stillbirths (P < 0.001), and presence of mummified fetuses (P < 0.001). Small piglets (<0.98 kg) suffered a high hazard ratio (6.57; P < 0.001), with this variable being clearly lower for the rest of birth weight categories. Piglets that were small in relation to their siblings (relative birth weight within litter) also suffered an increased death risk, with a hazard ratio of 1.81 (P < 0.05), which was similar to animals with posterior presentations at birth (hazard ratio = 1.80; P < 0.05). Piglets with a rectal temperature lower than 35.4°C 60 min after birth showed the highest hazard ratio (7.18; P < 0.01). Furthermore, the presence of mummified fetuses decreased the survivability of the remaining siblings, with a hazard ratio of 2.03 (P < 0.01), as did the presence of stillbirths (hazard ratio = 3.55; P < 0.001). The inclusion of the two random effects allowed us to estimate the mode of the joint posterior density of the sire variance (0.08) and the litter variance (1.98). The estimated heritability of preweaning survival reached a value of 0.03. We conclude that piglet survival involves several systematic influences related to birth weight, thermoregulatory ability, and injuries suffered during gestation and farrowing. The genetic variance was small compared with those generated by the common environment, for which the genetic improvement of piglet survival seems difficult. [ABSTRACT FROM AUTHOR]

Abstract Background Prolificacy is the most important trait influencing the reproductive efficiency of pig production systems. The low heritability and sex-limited expression of prolificacy have hindered to some extent the improvement of this trait through artificial selection. Moreover, the relative contributions of additive, dominant and epistatic QTL to the genetic variance of pig prolificacy remain to be defined. In this work, we have undertaken this issue by performing one-dimensional and bi-dimensional genome scans for number of piglets born alive (NBA) and total number of piglets born (TNB) in a three generation Iberian by Meishan F2 intercross. Results The one-dimensional genome scan for NBA and TNB revealed the existence of two genome-wide highly significant QTL located on SSC13 (P < 0.001) and SSC17 (P < 0.01) with effects on both traits. This relative paucity of significant results contrasted very strongly with the wide array of highly significant epistatic QTL that emerged in the bi-dimensional genome-wide scan analysis. As much as 18 epistatic QTL were found for NBA (four at P < 0.01 and five at P < 0.05) and TNB (three at P < 0.01 and six at P < 0.05), respectively. These epistatic QTL were distributed in multiple genomic regions, which covered 13 of the 18 pig autosomes, and they had small individual effects that ranged between 3 to 4% of the phenotypic variance. Different patterns of interactions (a × a, a × d, d × a and d × d) were found amongst the epistatic QTL pairs identified in the current work. Conclusions The complex inheritance of prolificacy traits in pigs has been evidenced by identifying multiple additive (SSC13 and SSC17), dominant and epistatic QTL in an Iberian × Meishan F2 intercross. Our results demonstrate that a significant fraction of the phenotypic variance of swine prolificacy traits can be attributed to first-order gene-by-gene interactions emphasizing that the phenotypic effects of alleles might be strongly modulated by the genetic background where they segregate.

This systematic review aimed at investigating those interventions that impact on cognitive functioning in children and adults with cerebral palsy (CP). A systematic database search was conducted and twenty-eight studies suitable for inclusion were identified, of which only nine were randomized controlled trials (RCTs). Among all the studies included, ten were multi-modal (cognitive and physical tasks), eleven physical, five cognitive, and two alternative and augmentative communication interventions. The evidence suggests that multi-modal and physical interventions improve general cognitive functioning. Multi-modal and cognitive interventions have an impact on visual perception. Both interventions, together with physical interventions have an effect on a specific executive function domain (inhibitory control), and only cognitive interventions improved other executive function domains such as working memory. However, no RCT assessed the effects of all executive function domains. Few studies have looked at interventions to improve memory and language, and there is a scarcity of long-term research. Future RCTs must be of higher quality and better account for age and sex differences, as well as the clinical heterogeneity of CP. To date, there is evidence that multi-modal, cognitive or physical interventions have an impact on general cognitive functioning, visual perception and executive functions in children with CP, which may support their cognitive development.The protocol was registered with the International Prospective Register of Systematic Reviews (PROSPERO): CRD42020152616., (© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Background: Acute coronary syndrome (ACS) is a major cause of death and closely related with obstructive sleep apnea (OSA). Our hypothesis is that several cardiovascular-related biomarkers could have a differential prognostic value for ACS severity in patients with OSA, and could also help (individually or combined) in the detection of OSA in patients after a coronary event., Methods: Up to 361 consecutive individuals admitted due to ACS were included in the study. All of them were evaluated for ACS severity (Killip score, number of diseased vessels, ejection fraction) and further classified as OSA or non-OSA. Medical records were registered and eleven blood biomarkers were measured, including heart-type fatty acid-binding globulin, N-terminal pro-brain natriuretic peptide, matrix metalloproteinase-9 (MMP9), placental growth factor (PlGF) and high-sensitivity C-reactive protein. Odds ratios of every biomarker for ACS severity-related parameters were calculated and adjusted for age, gender, body-mass index (BMI), hypertension, diabetes, smoking and drinking. The use of clinical measures and biomarkers for the diagnosis of OSA in ACS patients was evaluated both alone and combined using ROC curves., Results: Several biomarkers showed a significant association with ACS severity, which remained after adjusting for OSA and other potentially confounding variables. The mathematical combination of age, BMI, PlGF and MMP9 showed an area under the ROC curve (AUC) for OSA identification of 0.741, which was greater than any individual parameter or combination assessed: AUC(BMI):0.687, AUC(age):0.576, AUC(PlGF):0.584, AUC(MMP9):0.555., Conclusions: The usefulness of biomarkers in the assessment of ACS severity was independent of OSA and the other variables evaluated. In patients admitted after a coronary event, the combination of clinical measures and biomarkers showed a significant discriminating power for the detection of OSA., Clinical Trial Registration: NCT01335087 (clinicaltrials.gov)., (Copyright © 2019 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.)

Background: Compliance with continuous positive airway pressure (CPAP) therapy is essential in patients with obstructive sleep apnoea (OSA), but adequate control is not always possible. This is clinically important because CPAP can reverse the morbidity and mortality associated with OSA. Telemedicine, with support provided via a web platform and video conferences, could represent a cost-effective alternative to standard care management., Aim: To assess the telemedicine impact on treatment compliance, cost-effectiveness and improvement in quality of life (QoL) when compared with traditional face-to-face follow-up., Methods: A randomised controlled trial was performed to compare a telemedicine-based CPAP follow-up strategy with standard face-to-face management. Consecutive OSA patients requiring CPAP treatment, with sufficient internet skills and who agreed to participate, were enrolled. They were followed-up at 1, 3 and 6 months and answered surveys about sleep, CPAP side effects and lifestyle. We compared CPAP compliance, cost-effectiveness and QoL between the beginning and the end of the study. A Bayesian cost-effectiveness analysis with non-informative priors was performed., Results: We randomised 139 patients. At 6 months, we found similar levels of CPAP compliance, and improved daytime sleepiness, QoL, side effects and degree of satisfaction in both groups. Despite requiring more visits, the telemedicine group was more cost-effective: costs were lower and differences in effectiveness were not relevant., Conclusions: A telemedicine-based strategy for the follow-up of CPAP treatment in patients with OSA was as effective as standard hospital-based care in terms of CPAP compliance and symptom improvement, with comparable side effects and satisfaction rates. The telemedicine-based strategy had lower total costs due to savings on transport and less lost productivity (indirect costs)., Trial Register Number: NCT01716676., (Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.)

Background: Obstructive sleep apnea (OSA) is associated with an increased prevalence of cardiovascular diseases. New generations of highly sensitive assays for cardiac troponin (hs-cTnT) have been introduced recently, and a number of clinical observations have challenged the notion that troponins are only increased in blood following irreversible necrosis., Objective: The aims of this study were to compare the levels of hs-cTnT between a group of healthy controls and a group of patients with OSA without co-existent coronary artery disease, and to assess the possible influence of the treatment with Continuous positive airway pressure (CPAP) on these levels., Methods: The study population included 200 male participants. The case (n = 133) or control (n = 67) status was defined by an apnea-hypopnea index of 10 or greater. The hs-cTnT assay was validated as reported previously, with a limit of detection of 3 ng/L and an upper reference limit (99th percentile) of 14 ng/L., Results: The proportion of subjects with detectable plasma hs-cTnT was higher in patients with OSA than in controls (61 vs 75%, p = 0.04). In patients, a significant increase in hs-cTnT levels was observed after an effective treatment with CPAP (7.3 ± 3.4 vs 10.1 ± 4.9 ng/L; p < 0.01)., Conclusion: This study shows that the percentage of subjects with detectable hs-cTnT is associated with the presence of OSA. It also evidences that treatment with CPAP is followed by a rise in hs-cTnT concentrations. It is reasonable to suggest that CPAP therapy might induce a potential degree of cardiac stress, resulting in deleterious consequences for the heart., (Copyright © 2014. Published by Elsevier Ltd.)

Background: Metabolic syndrome (MS) occurs frequently in patients with obstructive sleep apnea-hypopnea syndrome (OSAHS). We hypothesized that aldosterone levels are elevated in OSAHS and associated with the presence of MS., Methods: We studied 66 patients with OSAHS (33 with MS and 33 without MS) and 35 controls. The occurrence of the MS was analyzed according to the National Cholesterol Education Program Adult Treatment Panel III (NCEP ATP III) clinical criteria. Measurements of plasma renin activity (PRA), aldosterone, aldosterone:PRA ratio, creatinine, glucose, triglycerides, cholesterol and HDL cholesterol were obtained at baseline and after CPAP treatment., Results: Aldosterone levels were associated with the severity of OSAHS and higher than controls (p = 0.046). Significant differences in aldosterone levels were detected between OSAHS patients with and without MS (p = 0.041). A significant reduction was observed in the aldosterone levels in patients under CPAP treatment (p = 0.012)., Conclusion: This study shows that aldosterone levels are elevated in OSAHS in comparison to controls, and that CPAP therapy reduces aldosterone levels. It also shows that aldosterone levels are associated with the presence of metabolic syndrome, suggesting that aldosterone excess might predispose or aggravate the metabolic and cardiovascular complications of OSAHS., Trial Registration: The study is not a randomized controlled trial and was not registered.

Uterine fibroids are the most common benign tumours that affect women of reproductive age and they represent the main indication for surgery for benign uterine pathology. In 25% of cases, they become clinically apparent, causing heavy menstrual bleeding, pelvic pain and/or infertility. Therefore, fibroids have a notable impact on the economic costs for the health system and also on the quality of life of the women they afflict. Although MRI is the most precise technique to diagnose fibroids, ultrasound remains the most cost-effective method. Surgery has been the treatment of choice for years, and several minimally invasive procedures have recently been developed. There are a wide variety of conservative medical treatment options, which are continually expanding. Research on the biology of these tumours can lead to new therapeutic options for the management of fibroids as we better understand the role that growth factors and genetic mutations play in them., (Copyright © 2013 Elsevier España, S.L. All rights reserved.)

Background: Vitamin D insufficiency and high levels of parathyroid hormone (PTH) appear to be emerging risk factors for metabolic syndrome (MS), diabetes and cardiovascular disease, conditions that occur frequently in patients with obstructive sleep apnea syndrome (OSAS)., Objectives: This study examined whether serum concentrations of 25-hydroxyvitamin D [25(OH)D] and PTH were associated with the presence of MS, diabetes and hypertension among an OSAS population., Methods: A total of 826 patients (635 men and 191 women) with newly diagnosed OSAS were studied. The occurrence of the MS was analyzed according to the National Cholesterol Education Program Adult Treatment Panel III clinical criteria. Serum levels of 25(OH)D, PTH, glucose, triglycerides, cholesterol, HDL cholesterol, creatinine and uric acid were determined., Results: In 55.3% of the men and in 63.2% of the women, the serum 25(OH)D level was less than 30 ng/ml (insufficient status). After adjusting for age, sex and seasonality, there was a significant trend of decreasing odds for diabetes [odds ratio (OR) 0.55, 95% confidence interval (CI) 0.33-0.94, ptrend = 0.038] and MS (OR 0.34, 95% CI 0.21-0.56, ptrend < 0.001) with increasing vitamin D levels. Higher PTH levels were associated with a higher prevalence of obesity (OR 2.05, 95% CI 1.06-3.09, ptrend < 0.001) and hypertension (OR 1.83, 95% CI 1.01-3.05, ptrend = 0.049)., Conclusions: These data suggest an inverse association of 25(OH)D with diabetes and MS and a positive association of PTH with obesity and hypertension among patients with OSAS. Based on our observational study, the causative nature of the associations cannot be established. These findings require further examination in prospective studies including clinical trials., (Copyright © 2012 S. Karger AG, Basel.)

Background: Prolificacy is the most important trait influencing the reproductive efficiency of pig production systems. The low heritability and sex-limited expression of prolificacy have hindered to some extent the improvement of this trait through artificial selection. Moreover, the relative contributions of additive, dominant and epistatic QTL to the genetic variance of pig prolificacy remain to be defined. In this work, we have undertaken this issue by performing one-dimensional and bi-dimensional genome scans for number of piglets born alive (NBA) and total number of piglets born (TNB) in a three generation Iberian by Meishan F(2) intercross., Results: The one-dimensional genome scan for NBA and TNB revealed the existence of two genome-wide highly significant QTL located on SSC13 (P < 0.001) and SSC17 (P < 0.01) with effects on both traits. This relative paucity of significant results contrasted very strongly with the wide array of highly significant epistatic QTL that emerged in the bi-dimensional genome-wide scan analysis. As much as 18 epistatic QTL were found for NBA (four at P < 0.01 and five at P < 0.05) and TNB (three at P < 0.01 and six at P < 0.05), respectively. These epistatic QTL were distributed in multiple genomic regions, which covered 13 of the 18 pig autosomes, and they had small individual effects that ranged between 3 to 4% of the phenotypic variance. Different patterns of interactions (a x a, a x d, d x a and d x d) were found amongst the epistatic QTL pairs identified in the current work., Conclusions: The complex inheritance of prolificacy traits in pigs has been evidenced by identifying multiple additive (SSC13 and SSC17), dominant and epistatic QTL in an Iberian x Meishan F(2) intercross. Our results demonstrate that a significant fraction of the phenotypic variance of swine prolificacy traits can be attributed to first-order gene-by-gene interactions emphasizing that the phenotypic effects of alleles might be strongly modulated by the genetic background where they segregate.

The Bayes factor (BF) procedure was applied to examine the additive genetic component of several physiological and vitality variables for newborn pigs. Nine variables were studied: heart rate, arterial oxygen saturation, rectal temperature (all at birth and 60 min later), birth weight, interval between birth and first teats contact, and interval between birth and first colostrum intake. The available numbers of data ranged from 288 (heart rate at 60 min) to 839 records (birth weight) from F(2) Iberian x Meishan newborn pigs. We compared a model with zero heritability (nonheritable) with the one where the additive genetic background was included. The BF was used to discriminate between both candidate models. Very strong evidence of genetic background was detected for heart rate 60 min after birth (BF = 48.90), and strong evidence was detected for rectal temperature at birth (BF = 13.82). Posterior modes (means) of heritabilities were 0.29 (0.32) and 0.40 (0.39), respectively. In addition, substantial evidence of absence of genetic background was detected for arterial oxygen saturation at birth.

Iberian x Meishan F2 piglet's preweaning survivability was analyzed using categorical data regression procedures within the proportional hazards assumption. A frailty sire model was assumed with the litter effect treated as an additional random source of variation. Moreover, the relative birth weight within litter and the litter effect were considered time-dependent covariates that changed their values in the second day of life due to cross fostering carried out to standardize litters. Six variables had a significant effect on survivability: birth weight (P < 0.01), relative birth weight within litter (P < 0.001), rectal temperature 60 min after birth (P < 0.01), type of presentation at birth (P < 0.05), presence of stillbirths (P < 0.001), and presence of mummified fetuses (P < 0.001). Small piglets (<0.98 kg) suffered a high hazard ratio (6.57; P < 0.001), with this variable being clearly lower for the rest of birth weight categories. Piglets that were small in relation to their siblings (relative birth weight within litter) also suffered an increased death risk, with a hazard ratio of 1.81 (P < 0.05), which was similar to animals with posterior presentations at birth (hazard ratio = 1.80; P < 0.05). Piglets with a rectal temperature lower than 35.4 degrees C 60 min after birth showed the highest hazard ratio (7.18; P < 0.01). Furthermore, the presence of mummified fetuses decreased the survivability of the remaining siblings, with a hazard ratio of 2.03 (P < 0.01), as did the presence of stillbirths (hazard ratio = 3.55; P < 0.001). The inclusion of the two random effects allowed us to estimate the mode of the joint posterior density of the sire variance (0.08) and the litter variance (1.98). The estimated heritability of preweaning survival reached a value of 0.03. We conclude that piglet survival involves several systematic influences related to birth weight, thermoregulatory ability, and injuries suffered during gestation and farrowing. The genetic variance was small compared with those generated by the common environment, for which the genetic improvement of piglet survival seems difficult.

Eight physiological and vitality variables related to the first minutes of the life of Iberian x Meishan F2 piglets were analyzed. Variables included rectal temperature, arterial oxygen saturation, heart rate (all were monitored at birth and 60 min later), time to reach the udder, and time to the first colostrum intake. Litter effect within boar, a random source of variation, influenced all variables, whereas the random boar effect was not significant for heart rate and arterial oxygen saturation at birth and the time to reach the udder. Birth weight influenced rectal temperature at birth (P < 0.01) and 60 min later (P < 0.001), arterial oxygen saturation 1 h after birth (P < 0.05), heart rate 1 h after birth (P < 0.001), time to reach the udder (P < 0.05), and time to the first suckle (P < 0.01), whereas viability score influenced rectal temperatures (at birth and 60 min later; P < 0.001), and time to reach the udder (P < 0.001) and to suckle (P < 0.001). Finally, the order of birth showed significant effects for rectal temperature 1 h after birth (P < 0.001) and time to first colostrum intake (P < 0.001). Correlation coefficients between physiological variables were generally low, with the exception of the ones for rectal temperature 1 h after birth and arterial oxygen saturation 1 h after birth (0.38; P < 0.001), and for rectal temperature at birth and rectal temperature 1 h after birth (0.34; P < 0.001). Times to reach the udder and to suckle were highly correlated (0.67; P < 0.001) and also were moderately and negatively correlated with rectal temperature 1 h after birth (-0.36 and -0.38 respectively; P < 0.001). Heart rates at birth and 1 h later, as well as arterial oxygen saturation at birth and 1 h later, were not correlated, showing that the values at birth do not necessarily provide information about the physiological status of the pig 1 h after birth. The recording of physiological variables, birth weight, and viability score may be useful to identify weak piglets quickly and to establish palliative measures.