FANCJ DNA helicase is recruited to the replisome by AND-1 to ensure genome stability.

FANCJ, a DNA helicase linked to Fanconi anemia and frequently mutated in cancers, counteracts replication stress by dismantling unconventional DNA secondary structures (such as G-quadruplexes) that occur at the DNA replication fork in certain sequence contexts. However, how FANCJ is recruited to the replisome is unknown. Here, we report that FANCJ directly binds to AND-1 (the vertebrate ortholog of budding yeast Ctf4), a homo-trimeric protein adaptor that connects the CDC45/MCM2-7/GINS replicative DNA helicase with DNA polymerase α and several other factors at DNA replication forks. The interaction between FANCJ and AND-1 requires the integrity of an evolutionarily conserved Ctf4-interacting protein (CIP) box located between the FANCJ helicase motifs IV and V. Disruption of the CIP box significantly reduces FANCJ association with the replisome, causing enhanced DNA damage, decreased replication fork recovery and fork asymmetry in cells unchallenged or treated with Pyridostatin, a G-quadruplex-binder, or Mitomycin C, a DNA inter-strand cross-linking agent. Cancer-relevant FANCJ CIP box variants display reduced AND-1-binding and enhanced DNA damage, a finding that suggests their potential role in cancer predisposition.

Real-time OXPHOS capacity analysis in wounded skin from diabetic mice: A pilot study.

INTRODUCTION: Diabetes mellitus (DM) impairs wound healing. The aim was to determine whether DM influences mitochondrial respiration in wounded skin (WS) and non-wounded skin (NWS), in a pre-clinical wound healing model of streptozotocin (STZ)-induced diabetes. METHODS: Six weeks after diabetes induction, two wounds were created in the back of C57BL/J6 mice. Using high-resolution respirometry (HRR), oxygen flux was measured, in WS and NWS, using two substrate-uncoupler-inhibitor titration protocols, at baseline (day 0), day 3 and 10 post-wounding, in STZ-DM and non-diabetic (NDM) mice. Flux control ratios for the oxidative phosphorylation (OXPHOS) capacity were calculated. RESULTS: A significant increase in mitochondrial respiration was observed in STZ-DM skin compared to control skin at baseline. The OXPHOS capacity was decreased in WS under diabetes at day 3 post-wounding (inflammation phase). However, at day 10 post-wounding (remodeling phase), the OXPHOS capacity was higher in WS from STZ-DM compared to NDM mice, and compared to NWS from STZ-DM mice. A significant relative contribution of pyruvate, malate and glutamate (PMG) oxidation to the OXPHOS capacity was observed in WS compared to NWS from STZ-DM mice, at day 10, while the relative contribution of fatty acid oxidation to the OXPHOS capacity was higher in NWS. The OXPHOS capacity is altered in WS from STZ-DM compared to NDM mice across the healing process, and so is the substrate contribution in WS and NWS from STZ-DM mice, at each time point. CONCLUSION: HRR may be a sensitive tool to evaluate the underlying mechanisms of tissue repair during wound healing.

Atopy and Response to Omalizumab Treatment in Chronic Spontaneous Urticaria.

INTRODUCTION: The possible influence of sensitization to aeroallergens on omalizumab response in chronic spontaneous urticaria (CSU) has been insufficiently investigated. This study's aim was to investigate atopy's influence on omalizumab response in CSU patients. METHOD: Retrospective study of CSU patients followed at a Portuguese Urticaria Center of Reference and Excellence (UCARE), treated with omalizumab for at least 6 months, between 2015 and 2022. At T0, all patients underwent quantification of specific immunoglobulin E (IgE) for total extract of most prevalent aeroallergens (ImmunoCAP Thermo Fisher Scientific®) and were divided in 2 groups, according to their response to omalizumab during the first 16 weeks of treatment: responders (R) (UAS7 <7) versus partial (PR) (UAS7 = 7-15) and nonresponders (UAS7 >15). R were further classified as fast (FR) (4-6 weeks) and slow responders (SR) (12-16 weeks). Total serum IgE, circulating eosinophil, and basophil counts were compared between groups at T0. p < 0.05 was considered statistically significant (SPSS® v25.0). RESULTS: Ninety-six patients (80% female) were studied, mean age 49 ± 14 years. Median CSU duration pre-omalizumab was 3 (0.6-20) years and mean omalizumab treatment duration was 3.7 ± 2.3 years. 38 (40%) had concomitant chronic inducible urticaria and 72 (75%) angioedema. Based on positive results of the specific IgE assay, 35 patients (36%) were considered atopic. Most patients (n = 30; 86%) were sensitized to house dust mites (HDM) (Dermatophagoides farinae = 28, Dermatophagoides pteronyssinus = 27, Blomia tropicalis = 19, Lepidoglyphus destructor = 17), followed by pollens (n = 12; 34%) (mixture of grasses = 10, Olea europaea = 7, Parietaria officinalis = 6), epithelia (n = 9; 26%) (dog = 8, cat = 7), and fungi (Alternaria alternata = 4; 11%). Eight patients (23%) were monosensitized to HDM and 4 (11%) to pollens. No significant association was found between aeroallergen sensitization and CSU duration, concomitant chronic inducible urticaria, or angioedema. Atopic patients featured significantly higher levels of baseline total serum IgE than nonatopic (469 vs. 94 U/mL, respectively; p = 0.0009). Mean baseline counts of eosinophils and basophils were not significantly different between atopic and non-atopic, respectively: eosinophils (128 vs. 121/mm3) and basophils (26 vs. 28/mm3). Regarding response to omalizumab, most patients (58; 60%) were responders: FR - 46 (79%); SR - 12 (21%). There was no significant association between aeroallergen sensitization and omalizumab response or speed of response. CONCLUSIONS: As far as we know, this is the first study exploring the influence of atopy sensitization pattern on omalizumab response in CSU. According to our results, presence of atopy/sensitization pattern does not influence omalizumab response in CSU patients.

Healing profiles in patients with a chronic diabetic foot ulcer: An exploratory study with machine learning.

Diabetic foot ulcers (DFU) are one of the most frequent and debilitating complications of diabetes. DFU wound healing is a highly complex process, resulting in significant medical, economic and social challenges. Therefore, early identification of patients with a high-risk profile would be important to adequate treatment and more successful health outcomes. This study explores risk assessment profiles for DFU healing and healing prognosis, using machine learning predictive approaches and decision tree algorithms. Patients were evaluated at baseline (T0; N = 158) and 2 months later (T1; N = 108) on sociodemographic, clinical, biochemical and psychological variables. The performance evaluation of the models comprised F1-score, accuracy, precision and recall. Only profiles with F1-score >0.7 were selected for analysis. According to the two profiles generated for DFU healing, the most important predictive factors were illness representations on T1 IPQ-B (IPQ-B ≤ 9.5 and < 10.5) and the DFU duration (≤ 13 weeks). The two predictive models for DFU healing prognosis suggest that biochemical factors are the best predictors of a favorable healing prognosis, namely IL-6, microRNA-146a-5p and PECAM-1 at T0 and angiopoietin-2 at T1. Illness perception at T0 (IPQ-B ≤ 39.5) also emerged as a relevant predictor for healing prognosis. The results emphasize the importance of DFU duration, illness perception and biochemical markers as predictors of  healing in chronic DFUs. Future research is needed to confirm and test the obtained predictive models.

Pelvic floor muscle function after grade II tears-Surface electromyography test-retest and differences between nulliparous and primiparous.

BACKGROUND: Vaginal birth is a risk factor for weakening of the pelvic floor muscles (PFM) and development of pelvic floor dysfunction (PFD). Perineal tears may decrease PFM function. PFM tone can be assessed with surface EMG (sEMG), but reliability studies of sEMG in women with perineal tears are lacking. The aims of this study were to evaluate test-retest and intrarater reliability of sEMG and compare PFM activation between nulliparous and primiparous. METHODS: A sEMG test-retest was performed in 21 women (12 nulliparous and 9 primiparous with grade II tears) to assess intra-rater reliability during rest and maximal voluntary contraction (MVC) of the PFM. Intraclass Correlation Coefficient (ICC), standard error of measurement (SEM) and minimal detectable change (MDC) were tested. A comparison between nulliparous' and primiparous' PFM activation during rest and MVC was performed. RESULTS: sEMG demonstrated fair reliability in nulliparous (ICC: 0.239; SEM: 5.2; MDC: 14.5) and moderate reliability in primiparous (ICC: 0.409; SEM: 1.5; MDC: 4.2) during rest. For peak MVC very good intrarater reliability was found in nulliparous (ICC: 0.92; SEM: 8.0; MDC: 22.2) and in primiparous (ICC: 0.823; SEM: 8.0; MDC: 22.2). Statistically significant lower PFM activation was found in primiparous women with perineal tear grade II than in nulliparous at rest (mean difference 9.1 µV, 95% confidence interval [CI] 3.0-19.0, p = 0.001), and during MVCpeak (mean difference 50.0 µV, 95% CI 10.0-120.0 p = 0.021). CONCLUSIONS: sEMG is reliable when measuring PFM activation in primiparous women with perineal tears grade II. Women with perineal tears grade II have lower PFM activation both during rest and MVC.

Adipose-related microRNAs as modulators of the cardiovascular system: the role of epicardial adipose tissue.

Adipose tissue expansion and subsequent metabolic dysfunction has been considered one of the major risk factors for development of cardiometabolic disease. Epicardial adipose tissue (EAT) in particular is a unique subtype of visceral adipose tissue located on the surface of the heart, around the coronary arteries. Due to its proximity, EAT can modulate the local metabolic and immune function of cardiomyocytes and coronary arteries. Several microRNAs have been described as key players in both cardiac and vascular function that when dysregulated will contribute to dysfunction. Here we review the influence of obesity in the crosstalk between specific adipose tissue types, in particular the EAT-secreted microRNAs, as key modulators of cardiac disease progression, not only as early biomarkers but also as therapeutic targets for cardiometabolic disease.

SARS-CoV2 pneumonia recovery is linked to expansion of innate lymphoid cells type 2 expressing CCR10.

Accelerate lung repair in SARS-CoV-2 pneumonia is essential for pandemic handling. Innate lymphoid cells (ILCs) are likely players, given their role in mucosal protection and tissue homeostasis. We studied ILC subpopulations at two time points in a cohort of patients admitted in the hospital due to SARS-CoV-2 infection. COVID-19 patients with moderate/severe respiratory failure featured profound depletion of circulating ILCs at hospital admission, in agreement with overall lymphocyte depletion. However, ILCs recovered in direct correlation with lung function improvement as measured by oxygenation index and in negative association with inflammatory and lung/endothelial damage markers like RAGE. While both ILC1 and ILC2 expanded, ILC2 showed the most striking phenotype changes, with CCR10 upregulation in strong correlation with these parameters. Overall, CCR10+ ILC2 emerge as relevant contributors to SARS-CoV-2 pneumonia recovery.

Risk assessment of failure during transitioning from in-centre to home haemodialysis.

BACKGROUND: Introducing a de-novo home haemodialysis (HHD) program often raises safety concerns as errors could potentially lead to serious adverse events. Despite the complexity of performing haemodialysis at home without the supervision of healthcare staff, HHD has a good safety record. We aim to pre-emptively identify and reduce the risks to our new HHD program by risk assessment and using failure mode and effects analysis (FMEA) to identify potential defects in the design and planning of HHD. METHODS: We performed a general risk assessment of failure during transitioning from in-centre to HHD with a failure mode and effects analysis focused on the highest areas of failure. We collaborated with key team members from a well-established HHD program and one HHD patient. Risk assessment was conducted separately and then through video conference meetings for joint deliberation. We listed all key processes, sub-processes, step and then identified failure mode by scoring based on risk priority numbers. Solutions were then designed to eliminate and mitigate risk. RESULTS: Transitioning to HHD was found to have the highest risk of failure with 3 main processes and 34 steps. We identified a total of 59 areas with potential failures. The median and mean risk priority number (RPN) scores from failure mode effect analysis were 5 and 38, with the highest RPN related to vascular access at 256. As many failure modes with high RPN scores were related to vascular access, we focussed on FMEA by identifying the risk mitigation strategies and possible solutions in all 9 areas in access-related medical emergencies in a bundled- approach. We discussed, the risk reduction areas of setting up HHD and how to address incidents that occurred and those not preventable. CONCLUSIONS: We developed a safety framework for a de-novo HHD program by performing FMEA in high-risk areas. The involvement of two teams with different clinical experience for HHD allowed us to successfully pre-emptively identify risks and develop solutions.

A pilot randomized controlled trial of online acceptance and commitment therapy versus compassion-focused therapy for chronic illness.

Literature suggests that acceptance and commitment therapy (ACT) is effective in improving well-being and in reducing psychopathological symptoms commonly experienced by people with chronic illness (CI). Compassion-focused therapy (CFT) reduces psychological distress, especially in individuals with high levels of shame and self-criticism, but few studies have explored CFT in CI. Additionally, studies almost exclusively compared ACT and CFT with inactive controls (wait-list; treatment as usual). Also, there is an interest in developing cost-effective mental health solutions, such as low-intensity online psychological interventions. This randomized controlled trial (RCT) aimed to assess the acceptability and compare the efficacy of four-session online ACT (n = 25) and CFT (n = 24) interventions in a sample of people with CI. Results showed both interventions were acceptable, with attrition rates at post-intervention comparable to those found in similar studies (around 50%). Intention-to-treat analyses showed that participants presented significantly less illness-related shame, less uncompassionate self-responding and more valued living after the intervention, although no difference was found between conditions. Results were sustained at 3- and 6-month follow-up. Results did not find statistical differences between conditions through reliable change index (RCI). Correlation between demographics and RCI showed that, at post-intervention, younger participants presented more behavioural awareness, men presented more valued action, and participants with CI for shorter periods presented less uncompassionate self-responding and less anxiety. Results suggest that low-intensity (four sessions) online ACT and CFT are cost-effective approaches to promote mental health of individuals with CI. Results and limitations are thoroughly discussed.

Congenital ataxia due to novel variant in ATP8A2.

Congenital ataxias are a heterogeneous group of disorders characterized by congenital or early-onset ataxia. Here, we describe two siblings with congenital ataxia, who acquired independent gait by age 4 years. After 16 years of follow-up they presented near normal cognition, cerebellar ataxia, mild pyramidal signs, and dystonia. On exome sequencing, a novel homozygous variant (c.1580-18C > G - intron 17) in ATP8A2 was identified. A new acceptor splice site was predicted by bioinformatics tools, and functionally characterized through a minigene assay. Minigene constructs were generated by PCR-amplification of genomic sequences surrounding the variant of interest and cloning into the pCMVdi vector. Altered splicing was evaluated by expressing these constructs in HEK293T cells. The construct with the c.1580-18C > G homozygous variant produced an aberrant transcript, leading to retention of 17 bp of intron 17, by the use of an alternative acceptor splice site, resulting in a premature stop codon by insertion of four amino acids. These results allowed us to establish this as a disease-causing variant and expand ATP8A2-related disorders to include less severe forms of congenital ataxia.

Fat-free Mass Bioelectrical Impedance Analysis Predictive Equation for Athletes using a 4-Compartment Model.

Bioelectrical impedance analysis equations for fat-free mass prediction in healthy populations exist, nevertheless none accounts for the inter-athlete differences of the chemical composition of the fat-free mass. We aimed to develop a bioimpedance-based model for fat-free mass prediction based on the four-compartment model in a sample of national level athletes; and to cross-validate the new models in a separate cohort of athletes using a 4-compartment model as a criterion. There were 142 highly trained athletes (22.9±5.0 years) evaluated during their respective competitive seasons. Athletes were randomly split into development (n=95) and validation groups (n=47). The criterion method for fat-free mass was the 4-compartment model. Resistance and reactance were obtained with a phase-sensitive 50 kHz bioimpedance device. Athletic impedance-based models were developed (fat-free mass=- 2.261+0.327*Stature2/Resistance+0.525*Weight+5.462*Sex, where stature is in cm, Resistance is in Ω, Weight is in kg, and sex is 0 if female or 1 if male). Cross validation revealed R2 of 0.94, limits of agreement around 10% variability and no trend, as well as a high concordance correlation coefficient. The new equation can be considered valid thus affording practical means to quantify fat-free mass in elite adult athletes.

Functional Coupling between DNA Replication and Sister Chromatid Cohesion Establishment.

Several lines of evidence suggest the existence in the eukaryotic cells of a tight, yet largely unexplored, connection between DNA replication and sister chromatid cohesion. Tethering of newly duplicated chromatids is mediated by cohesin, an evolutionarily conserved hetero-tetrameric protein complex that has a ring-like structure and is believed to encircle DNA. Cohesin is loaded onto chromatin in telophase/G1 and converted into a cohesive state during the subsequent S phase, a process known as cohesion establishment. Many studies have revealed that down-regulation of a number of DNA replication factors gives rise to chromosomal cohesion defects, suggesting that they play critical roles in cohesion establishment. Conversely, loss of cohesin subunits (and/or regulators) has been found to alter DNA replication fork dynamics. A critical step of the cohesion establishment process consists in cohesin acetylation, a modification accomplished by dedicated acetyltransferases that operate at the replication forks. Defects in cohesion establishment give rise to chromosome mis-segregation and aneuploidy, phenotypes frequently observed in pre-cancerous and cancerous cells. Herein, we will review our present knowledge of the molecular mechanisms underlying the functional link between DNA replication and cohesion establishment, a phenomenon that is unique to the eukaryotic organisms.

Role of the DDX11 DNA Helicase in Warsaw Breakage Syndrome Etiology.

Warsaw breakage syndrome (WABS) is a genetic disorder characterized by sister chromatid cohesion defects, growth retardation, microcephaly, hearing loss and other variable clinical manifestations. WABS is due to biallelic mutations of the gene coding for the super-family 2 DNA helicase DDX11/ChlR1, orthologous to the yeast chromosome loss protein 1 (Chl1). WABS is classified in the group of "cohesinopathies", rare hereditary diseases that are caused by mutations in genes coding for subunits of the cohesin complex or protein factors having regulatory roles in the sister chromatid cohesion process. In fact, among the cohesion regulators, an important player is DDX11, which is believed to be important for the functional coupling of DNA synthesis and cohesion establishment at the replication forks. Here, we will review what is known about the molecular and cellular functions of human DDX11 and its role in WABS etiopathogenesis, even in light of recent findings on the role of cohesin and its regulator network in promoting chromatin loop formation and regulating chromatin spatial organization.

Pineapple (Ananas comosus L.) By-Products Valorization: Novel Bio Ingredients for Functional Foods.

Pineapple is consumed on a large scale around the world due to its appreciated sensorial characteristics. The industry of minimally processed pineapple produces enormous quantities of by-products (30-50%) which are generally undervalued. The end-of-life of pineapple by-products (PBP) can be replaced by reuse and renewal flows in an integrated process to promote economic growth by reducing consumption of natural resources and diminishing food waste. In our study, pineapple shell (PS) and pineapple core (PC), vacuum-packed separately, were subjected to moderate hydrostatic pressure (225 MPa, 8.5 min) (MHP) as abiotic stress to increase bromelain activity and antioxidant capacity. Pressurized and raw PBP were lyophilized to produce a stable powder. The dehydrated samples were characterized by the following methodologies: chemical and physical characterization, total phenolic compounds (TPC), antioxidant capacity, bromelain activity, microbiology, and mycotoxins. Results demonstrated that PBP are naturally rich in carbohydrates (66-88%), insoluble (16-28%) and soluble (2-4%) fiber, and minerals (4-5%). MHP was demonstrated to be beneficial in improving TPC (2-4%), antioxidant activity (2-6%), and bromelain activity (6-32%) without affecting the nutritional value. Furthermore, microbial and mycotoxical analysis demonstrated that powdered PC is a safe by-product. PS application is possible but requires previous decontamination to reduce the microbiological load.

Large normal alleles of ATXN2 decrease age at onset in transthyretin familial amyloid polyneuropathy Val30Met patients.

OBJECTIVE: Transthyretin (TTR)-related familial amyloid polyneuropathy (FAP) is an autosomal dominant neurological disease, caused most frequently by a Val30Met (now classified as Val50Met) substitution in TTR. Age at onset (AO) ranges from 19 to 82 years, and variability exists mostly between generations. Unstable oligonucleotide repeats in various genes are the mechanism behind several neurological diseases, found also to act as modifiers for other disorders. Our aim was to investigate whether large normal repeat alleles of 10 genes had a possible modifier effect in AO in Portuguese TTR-FAP Val30Met families. METHODS: We analyzed 329 Portuguese patients from 123 families. Repeat length (at ATXN1, ATXN2, ATXN3, ATXN7, TBP, ATN1, HTT, JPH3, AR, and DMPK) was assessed by single and multiplex polymerase chain reaction, using fluorescently labeled primers, followed by capillary electrophoresis. We used a family-centered approach, and generalized estimating equations were used to account for AO correlation between family members. RESULTS: For ATXN2, the presence of at least 1 allele longer than 22 CAGs was significantly associated with an earlier onset in TTR-FAP Val30Met, decreasing mean AO by 6 years (95% confidence interval = -8.81 to -2.19, p = 0.001). No association was found for the remaining repeat loci. INTERPRETATION: Length of normal repeats at ATXN2 may modify AO in TTR-FAP Val30Met and may function as a risk factor. This can be due to the role of ATXN2 in RNA metabolism and as a modulator of various cellular processes, including mitochondrial stress. This may have relevant implications for prognosis and the follow-up of presymptomatic carriers. ANN NEUROL 2019;85:251-258.

Impact of combined training with different exercise intensities on inflammatory and lipid markers in type 2 diabetes: a secondary analysis from a 1-year randomized controlled trial.

BACKGROUND: Exercise is a well-accepted strategy to improve lipid and inflammatory profile in individuals with type 2 diabetes (T2DM). However, the exercise intensity having the most benefits on lipids and inflammatory markers in patients with T2DM remains unclear. We aimed to analyse the impact of a 1-year combined high-intensity interval training (HIIT) with resistance training (RT), and a moderate continuous training (MCT) with RT on inflammatory and lipid profile in individuals with T2DM. METHODS: Individuals with T2DM (n = 80, aged 59 years) performed a 1-year randomized controlled trial and were randomized into three groups (control, n = 27; HIIT with RT, n = 25; MCT with RT, n = 28). Exercise sessions were supervised with a frequency of 3 days per week. Inflammatory and lipid profiles were measured at baseline and at 1-year follow-up. Changes in inflammatory and lipid markers were assessed using generalized estimating equations. RESULTS: After adjusting for sex, age and baseline moderate-to-vigorous physical activity (MVPA), we observed a time-by-group interaction for Interleukin-6 (IL-6) in both the MCT with RT (ß = - 0.70, p = 0.034) and HIIT with RT (ß = - 0.62, p = 0.049) groups, whereas, only the HIIT with RT group improved total cholesterol (ß = - 0.03, p = 0.045) and LDL-C (ß = - 0.03, p = 0.034), when compared to control. No effect was observed for C-reactive protein (CRP), cortisol, tumour necrosis factor-α (TNF-α), soluble form of the haptoglobin-hemoglobin receptor CD163 (sCD163), triglycerides and HDL-C in both groups (p > 0.05). CONCLUSIONS: Favorable adaptations on IL-6 were observed in both the HIIT and MCT combined with RT groups following a long-term 1-year exercise intervention in individuals with T2DM. However, only the HIIT with RT prevented further derangement of total cholesterol and LDL-C, when compared to the control group. Therefore, in order to encourage exercise participation and improve inflammatory profile, either exercise protocols may be prescribed, however, HIIT with RT may have further benefits on the lipid profile. Trial registration Clinicaltrials.gov ID: NCT03144505.

Usefulness of Reflection Scanning in Determining Whole-Body Composition in Broadly Built Individuals Using Dual-Energy X-ray Absorptiometry.

Whole-body composition analysis by dual-energy X-ray absorptiometry (DXA) requires subjects to fit within the width limits of the DXA bed. To overcome this limitation, the aim of this study was to validate a partial scanning technique at which the upper left limb is deliberately left unscanned and measurements are "reflected" from the right-side upper limb. A Hologic Explorer-W densitometer was used in a sample of 189 participants, including athletes and nonathletes, ranging from underweight to obese (body mass index: 17.0-40.1 kg/m2). A whole-body scan was analyzed as the reference procedure to determine bone mineral content (BMC), lean soft tissue (LST), and fat mass (FM), and reanalyzed using a partial reflection scanning (RS) technique. RS estimates of BMC were associated with athletic status and differed significantly from reference estimates (p < 0.05). Also, the RS estimates of LST and FM were different (p < 0.05) from those of the reference whole-body scan, although differences were small (0.17 kg, -0.02 kg, and -0.10% for BMC, LST, and FM, respectively). The alternative procedure explained more than 99% of the reference scan variance with low limits of agreement (BMC: -13.8 to 23.9 g [athletes] and -6.3 to 18.0 g [nonathletes]; LST: -0.11 to 0.45 kg; FM: -0.22 to 0.17 kg). Regardless of body mass index, athletic status, and gender, RS is a useful and simple solution to be used in individuals wider than the DXA scan area. However, individual errors for BMC may be higher in athletes engaged in lateral dominant sports practice.

Hyperbaric storage at variable room temperature - a new preservation methodology for minced meat compared to refrigeration.

Hyperbaric storage (HS) at variable room temperature (RT) has been proposed as an alternative to refrigeration at atmospheric pressure (RF/AP) for food preservation. Little information is available regarding the effect of HS in meat products. In this study the RT/HS effect was evaluated at 100 MPa and variable RT (≈20 °C) for minced meat preservation up to 24 h, initially for one batch. A further two different batches were studied independently. Microbiological and physicochemical parameters were analyzed to assess the feasibility of RT/HS, using storage at RF/AP and variable RT/AP (≈20 °C), for comparison. A post-hyperbaric storage (post-HS) was also tested over 4 days at RF/AP. For the first batch the results showed that RT/HS allowed a decrease of the total aerobic mesophile value (P < 0.05) when compared to the initial sample, whereas at RF/AP and RT/AP, values increased to > 6 Log CFU g-1 after 24 h. Similarly, Enterobacteriaceae increased > 1 and > 2 Log CFU g-1 at RF/AP and RT/AP, respectively, while yeasts and molds presented similar and lower overall loads compared to the initial samples for all storage conditions, whereas RT/HS always allowed lower counts to be obtained. Regarding pH, lipid oxidation, and color parameters, RT/HS did not cause significant changes when compared to RF/AP, except after 24 h, where pH increased. The three batches presented similar results, the differences observed being mainly due to the heterogeneity of the samples. RT/HS is a potential quasi-energetic costless alternative to RF for at least short-term preservation of minced meat. © 2018 Society of Chemical Industry.

mtDNA copy number associated with age of onset in familial amyloid polyneuropathy.

BACKGROUND: Transthyretin-related familial amyloid polyneuropathy (TTR-FAP Val30Met) shows a wide variation in age-at-onset (AO) between generations and genders, as in Portuguese families, where women display a later onset and a larger anticipation (>10 years). Mitochondrial DNA (mtDNA) copy number was assessed to clarify whether it has a modifier effect on AO variability in Portuguese patients. METHODS: The mtDNA copy number of 262 samples (175 Val30Met TTR carriers and 87 controls (proven Val30Val)) was quantified by quantitative real-time PCR. Statistical analysis was performed using IBM SPSS V.23 software. RESULTS: This study shows that Val30Met TTR carriers have a significantly higher (p<0.001) mean mtDNA copy number than controls. Furthermore, the highest mtDNA copy number mean was observed in early-onset patients (AO <40 years). Importantly, early-onset offspring showed a significant increase (p=0.002) in the mtDNA copy number, when compared with their late AO parents. CONCLUSIONS: The present findings suggest, for the first time, that mtDNA copy number may be associated with earlier events and may therefore be further explored as a potential biomarker for follow-up of TTR-FAP Val30Met carriers.

Regular physical activity eliminates the harmful association of television watching with multimorbidity. A cross-sectional study from the European Social Survey.

The aims of the study were to analyse the association of television viewing, physical activity (PA), and multimorbidity; and to understand if PA attenuates or eliminates the detrimental associations between television viewing and multimorbidity. This is a cross-sectional study based on data from the European Social Survey round 7, 2014. Participants were 32,931 adults (15,784 men), aged 18-114 years old, from 18 European countries. Self-reported information regarding chronic diseases (CD), PA and time watching television were collected through interview. Logistic regression analysis was conducted to analyse the association between watching television and PA with the presence of multimorbidity (≥1 CD). Men and women who watched television had increased odds of having multimorbidity. When considering PA it was observed that, independently of television viewing, compared to engaging in PA for ≤1 day/week, engaging in 2-4 days/week and in ≥5 days/week was inversely associated with multimorbidity. Increased odds of multimorbidity were observed for men spending >3 h/day watching television in the 2-3 days/week and ≤1 day/week categories of PA. For women engaged in 30 min of physical activity 2-3 days/week, spending >3 h/day watching television was associated with higher odds for multimorbidity. For adults who practiced physical activity on ≥ 5 days/week watching television was not associated with multimorbidity. Time spent watching television is associated with multimorbidity. However, physical activity participation can attenuate or even eliminate this association.