Nutraceutical Content and Genetic Diversity Share a Common Pattern in New Pomegranate Genotypes

The nutraceutical value of pomegranate in the treatment of many diseases is well-documented and is linked to its richness in phenolic compounds. This study aims to evaluate the nutraceutical and genetic diversity of novel pomegranate genotypes (G1–G5) in comparison to leading commercial pomegranate varieties, i.e., ‘Wonderful’, ‘Primosole’, ‘Dente di Cavallo’ and ‘Valenciana’. Morphometric measurements were carried out on fruits, accompanied by chemical characterization (total phenolic content, antioxidant activity, carbohydrates and minerals) and the development of four new polymorphic SSR markers involved in the flavonoid pathway. The cultivars displayed a marked variability in the weight and shape of the fruits, as well as in the weight of the arils and juice yield. The highest level of total phenolic content and antioxidant activity was found in ‘Wonderful’ and G4, while the lowest was in ‘Dente di Cavallo’. Furthermore, the results showed that pomegranate juice is an excellent source of minerals, especially potassium, which plays a key role in organ functioning. The new flavonoid-related markers effectively differentiated the cultivars with the same diversity pattern as morpho-chemical characterization, so the SSRs developed in the present study can be used as a rapid tool for the identification of pomegranate cultivars with relevant nutraceutical traits, such as the new genotypes investigated.

Nutraceutical Content and Genetic Diversity Share a Common Pattern in New Pomegranate Genotypes

The nutraceutical value of pomegranate in the treatment of many neoplastic, cardiovascular, viral, inflammatory, metabolic, microbial, intestinal, reproductive and skin diseases is well-documented and is linked to its richness in phenolic compounds. This study aims to evaluate nutraceutical and genetic diversity of novel pomegranate genotypes (G1-G5) in comparison to leading commercial pomegranate varieties i.e. ‘Wonderful’, ‘Primosole’, ‘Dente di Cavallo’ and ‘Valenciana’. Morphometric measurements were carried out on fruits, accompanied by chemical characterization and the development of four new polymorphic SSR markers involved in the flavonoid pathway. The cultivars displayed a marked variability in the weight and shape of fruits, as well as in the weight of arils and juice yield. The highest level of total phenolic content and antioxidant activity was found in ‘Wonderful’ and G4, while the lowest was in ‘Dente di Cavallo’. Furthermore, the results showed that the pomegranate juice, is an excellent source of minerals, especially potassium, which plays a key role in organ functioning. The new flavonoid-related markers effectively differentiated the cultivars with the same diversity pattern as morpho-chemical characterization, so the SSRs developed in the present study can be used as a rapid tool for the identification of pomegranate cultivars with relevant nutraceutical traits.

Waardenburg Syndrome Type II, Associated with Atrial Septal Defect and Rocker Bottom Foot in a New Born – A Rare Case Presentation

Background: There are a number of syndromes with a combination of pigmentary abnormalities, hearing abnormalities and other defects. One among these pigmentary syndromes is waardenburg syndrome, which is further classified into four types. All these types show marked variability even within pedigrees. Case-Report: We are reporting a case of Waardenburg syndrome type 2, with an unusual presentation of atrial septal defect and rocker bottom foot. Conclusion: All clinicians on noticing, any child with white forelock of hair or heterochromia iris should get the child’s hearing tested and further systemic evaluation, at the first instance, because an early intervention for hearing impairment and other defects can improve the outcome of child. Family counselling is at-most important for these children with syndromes. We describe a unique case of Waardenburg syndrome type 2 with an unusual presentation of atrial septal defect and rocker bottom foot.

Patterns of psychopathology and cognition in sex chromosome aneuploidy

Background Sex chromosome aneuploidies (SCAs) are a collectively common family of genetic disorders that increase the risk for neuropsychiatric and cognitive impairment. Beyond being important medical disorders in their own right, SCAs also offer a unique naturally occurring model for studying X- and Y-chromosome influences on the human brain. However, it remains unclear if (i) different SCAs are associated with different profiles of psychopathology and (ii) the notable interindividual variation in psychopathology is related to co-occurring variation in cognitive ability. Methods We examined scores for 11 dimensions of psychopathology [Child/Adult Behavior Checklist (CBCL)] and general cognitive ability [full-scale IQ (FSIQ) from Wechsler tests] in 110 youth with varying SCAs (XXY = 41, XYY = 22, XXX = 27, XXYY = 20) and 131 typically developing controls (XX = 59, XY = 72). Results All SCAs were associated with elevated CBCL scores across several dimensions of psychopathology (two-sample t tests comparing the euploidic and aneuploidic groups [all |T| > 9, and p < 0.001]). Social and attentional functioning were particularly sensitive to the carriage of a supernumerary Y-chromosome. In particular, the XYY group evidenced significantly more social problems than both extra-X groups (Cohen’s d effect size > 0.5, Bonferroni corrected p < .05). There was marked variability in CBCL scores within each SCA group, which generally correlated negatively with IQ, but most strongly so for social and attentional difficulties (standardized β, − 0.3). These correlations showed subtle differences as a function of the SCA group and CBCL scale. Conclusions There is domain-specific variation in psychopathology across SCA groups and domain-specific correlation between psychopathology and IQ within SCAs. These findings (i) help to tailor clinical assessment of this common and impactful family of genetic disorders and (ii) suggest that dosage abnormalities of X- and Y-linked genes impart somewhat distinct profiles of neuropsychiatric risk.

Density Estimates of Unmarked Large Mammals at Camera Traps Vary among Models, Species, and Years, Signalling Importance of Model Assumptions

Density estimation is a key goal in ecology but accurate estimates remain elusive, especially for unmarked animals. Data from camera-trap networks combined with new density estimation models can bridge this gap but recent research has shown marked variability in accuracy, precision, and concordance among estimators. We extend this work by comparing estimates from two different classes of models: unmarked spatial capture-recapture (spatial count, SC) models, and Time In Front of Camera (TIFC) models, a class of random encounter model. We estimated density for four large mammal species with different movement rates, behaviours, and sociality, as these traits directly relate to model assumptions. TIFC density estimates were typically higher than SC model estimates for all species. Black bear TIFC estimates were ~ 10-fold greater than SC estimates. Caribou TIFC estimates were 2-10 fold greater than SC estimates. White-tailed deer TIFC estimates were up to 100-fold greater than SC estimates. Differences of 2-5 fold were common for other species in other years. SC estimates were annually stable except for one social species; TIFC estimates were highly annually variable in some cases and consistent in others. Tests against densities obtained from DNA surveys and aerial surveys also showed variable concordance and divergence. For gregarious animals TIFC may outperform SC due to the latter model’s assumption of independent activity centres. For curious animals likely to investigate camera traps, SC may outperform TIFC, which assumes animal behavior is unaffected by cameras. Unmarked models offer great possibilities, but a pragmatic approach employs multiple estimators where possible, considers the ecological plausibility of assumptions, and uses an informed multi-inference approach to seek estimates from models with assumptions best fitting a species’ biology.

Physical Activity Trajectory In The First 10 Months of The COVID-19 Pandemic in Southern Brazil: a Follow-Up Study

Background A continuous tracking of the PA level during the COVID-19 pandemic is important to understand how people’s behaviour has varied along time. The aim of this study was to evaluate the physical activity (PA) trajectory over the first 10 months of the COVID-19 pandemic in the south of Brazil. Methods Data from three timepoints of the PAMPA Cohort were used, as follows: 1) pre-COVID-19 (retrospective); 2) Jun-Jul 2020; 3) Dec 2020/Jan 2021. PA practice, frequency, duration, and place where activities were performed (at or out of home) were assessed. Results A reduction in any, sufficient and out of home PA, as well as mean days and minutes were observed from the first (pre-COVID-19) to the second (Jun/Jul 2020) timepoint, followed by an increase in the third timepoint (Dec 2020/Jan 2021). Female participants showed lower PA prevalence for any, sufficient and out of home PA. No marked differences of PA prevalence were observed for income and educational level.Conclusion During the first 10 months of COVID-19 pandemic there was a marked variability on PA pattern in adults from southern Brazil. An ongoing tracking of PA behavior during COVID-19 pandemic is important to understand how this behaviour varies and what actions are needed in order to increase PA on populational level.

Inequality of access to advanced therapies for patients with inflammatory arthritis: a postcode lottery?

Objectives Advanced therapies (AT) including biologics, biosimilars and JAK inhibitors have dramatically improved the quality of life of patients with Rheumatoid arthritis (RA), Psoriatic Arthritis (PsA) and Axial spondyloarthritis (axSpA). Evidence-based criteria for prescribing these drugs in England and Wales is formulated by the National Institute for Health and Care Excellence (NICE) through Health Technology Appraisals (HTAs) and guidelines with the aim of providing equitable access to AT for patients with severe or resistant disease. Similar bodies exist in some, but not all European countries with disparities in AT access between countries in AT access for RA. We examined whether this disparity was mirrored in England for RA, PsA and axSpA despite the NHS in England and Wales being legally obliged to provide funding for AT recommended by NICE’s HTA board, through commissioning bodies, Clinical Commissioning Groups (CCGs). Methods We requested AT pathways from CCGs in England. Where these were not available, individual hospital Trusts were contacted using Freedom of Information (FOI) requests. Results We found marked variability in the way that CCGs in England interpret NICE guidance. We found 41, 29 and 25 different pathways for RA, PsA and axSpA respectively. Similar disparities existed with sequential prescribing where one AT did not work, with limits on numbers of sequential AT in 54%, 59% and 59% of CCGs for RA, PsA and axSpA respectively, with these limits being different for the same condition between CCGs. Conclusion While patients at identical stages of their disease course should have access to the same NICE approved AT, we found this is not the case for large parts of England. Inequality of access was found between regions mirroring the variability which occurs between countries throughout Europe. Harmonisation of access needs to be addressed by policymakers, ensuring fairness in the way that clinicians and patients can access AT.

Variability in the Histopathological Diagnosis of Nonmelanocytic Lesions Excised to Exclude Melanoma

Introduction. The differential diagnosis of lesions excised to exclude melanoma include a variety of benign and malignant melanocytic and non-melanocytic lesions. Objectives. We examined the variability between pathologists in diagnosing non-melanocytic lesions. Methods. As part of a larger study prospectively examining the diagnosis of lesions excised to exclude melanoma in 198 patients at a primary care skin cancer clinic in Newcastle, Australia, we compared diagnosis made by 5 experienced dermatopathologists, of 44 non-melanocytic lesions in 44 patients aged 22-90. Results. Forty-four lesions (out of 217 in total) were non-melanocytic. Among the 5 pathologists who examined each case there was marked variability in the terminology used to diagnose each case. The most common variability was found between seborrheic keratosis, large cell acanthoma, solar lentigo, and lichenoid keratosis. The diagnosis made by the majority of the pathologists was deemed to be the reference diagnosis. Versus majority diagnosis, 4% of benign lesions were considered malignant, and 7% of malignant diagnoses were considered as benign. Conclusions. The different terminology adopted and lack of consensus in the diagnosis of these non-melanocytic lesions in this setting suggests that training AI systems using gold standards may be problematic. We propose a new management classification scheme called MOLEM (Management of Lesions Excised to exclude Melanoma) which expands the previously described MPATH-dx to include non-melanocytic lesions.

Blood Volume Expansion, Normovolemia and Clinical Outcomes in Chronic Human Heart Failure - More is Better

Expansion in blood volume (BV) is a well-recognized response to arterial under-filling secondary to impaired cardiac output in heart failure (HF). However, the effectiveness of this response in terms of outcomes remains inadequately understood. Prospective analysis was undertaken in 110 HF patients hospitalized and treated for fluid overload. BVs were measured in a compensated state at hospital discharge using indicator-dilution methodology. Data were analyzed for composite 1-year HF-related mortality/1st re-hospitalization. Despite uniform standard of care marked heterogeneity in BVs was identified across the cohort. The cohort was stratified by BV expansion ≥+25% above normal (51% of cohort), mild-moderate expansion (22%), and normal BV (27%). Kaplan-Meier (K-M) survival estimates and regression analyses revealed BV expansion (≥+25%) to be associated with better event-free survival relative to normal BV (p=0.038). Increased red blood cell mass (RBCm) (RBC polycythemia) was identified in 43% of the overall cohort, and 70% in BV expansion ≥+25%. K-M analysis demonstrated polycythemia to be associated with better outcomes compared with normal RBCm (p<0.002). Persistent BV expansion to include RBC polycythemia is common and, importantly, associated with better clinical outcomes compared to normal total BV or normal RBCm in patients with chronic HF. However, compensatory BV expansion is not a uniform physiologic response to the insult of HF with marked variability in BV profiles despite uniform standard of care diuretic therapy. Therefore, recognizing the variability in volume regulation pathophysiology has implications not only for impact on clinical outcomes and risk stratification, but also potential for informing individualized volume management strategies.

Covid-19 in 40 dialysis facilities. A prospective multicenter cohort study in Spain

Aims: Assess the incidence of COVID-19 during the first wave of the pandemic in 40 hemodialysis units in Spain. Material and methods: We analyzed 396 Rt-PCR performed March 14th to April 28th, 2020 in a cohort of 2398 hemodialysis (HD) patients corresponding to 19 hospital units and 21 satellite centers. Results: We performed Rt-PCR in 14% of the patients, with a marked variability depending on the location. The overall COVID-19 incidence was 3.2% (range 0-15.9%). It was significantly higher in the hospital units (4.5%) than in the satellite units (1.9%) (p=0.0003). There was a positive and significant correlation between the COVID-19 incidence in the units and their proximity to Madrid (R2=0.6235, p=0.0013), which was the main epidemic focus. Conclusion: Our study showed a low incidence of COVID-19 in HD, higher in hospital units and closer to Madrid.