Recombinant chromosome 4 resulting from a maternal pericentric inversion in two sisters presenting consistent dysmorphic features

The chromosome 4 inversion with breakpoints p13–p15q35 results in a recombinant 4 [rec(4)] chromosome with a partial 4p duplication/4q deletion in approximately 80% of the carriers’ offspring. However, whether the recombinant 4p syndrome can be recognized as a clinical entity is still open to controversy. We report on two sisters diagnosed with rec(4) resulting in a partial 4p trisomy/4q deletion that was inherited from their mother, who is a carrier of inv(4)(p14q35). Both probands presented phenotypes consistent with those observed in other children with rec(4)parental, supporting the porposal that the rec(4)parental syndrome is a distinct entity among dup(4p) cases and may be suspected on the basis of the pattern of clinical symptoms. To the best of our knowledge this is only the second report of family with two probands affected with a recombinant chromosome 4 arising from a parental pericentric inversion.     

Eating Motives and Other Factors Predicting Emotional Overeating during COVID-19 in a Sample of Polish Adults

We hypothesised that the higher levels of emotion-related predictors (eating motive in the form of affect regulation and COVID-19-related stress) would be associated with higher emotional overeating, after accounting for the effects of demographic variables (gender and BMI) and other eating motives (visual- and attitude-related predictors: liking, pleasure, visual appeal; body- and health-related predictors: need and hunger, health, weight control). Participants (N = 868; M_age = 33.53 years, SD = 11.98) completed: the Eating Motivation Survey, the Emotional Overeating Questionnaire, a COVID-19-related stress measure and a socio-demographic survey. The final step of the regression with emotional overeating was significant; affect regulation and COVID-19-related stress were significantly related to emotional overeating (ΔF p < 0.001, Adj. ΔR² = 0.13). During the COVID-19 pandemic, eating can, on the one hand, help to cope with the current difficult situation and the negative emotions associated with it; on the other hand, frequent use of this tendency can lead to rigid regulation of affect and use of this mechanism as the dominant mechanism. Therefore, limited social contact, related disruptions in daily activities and stress resulting from COVID-19 should generate appropriate interventions, not necessarily focusing only on emotional eating, but also on the resources of the individual. It is worth encouraging specialists to implement alternative methods of contact with their patients, e.g., online.     

The impact of alcohol consumption and physical activity on breast cancer: The role of breast cancer risk

High alcohol consumption and physical inactivity are known breast cancer risk factors. However, whether the association between these lifestyle factors and breast cancer is modified by a woman's additional breast cancer risk factors has never been studied. Therefore, a population-based prospective cohort study of 57,654 Swedish women aged 40–74 years, including 957 breast cancer cases, was performed. Alcohol consumption and physical activity were measured with validated web-based self-report questionnaires. The Tyrer–Cuzick risk prediction model was used to determine a woman's 10-year risk of developing breast cancer. Logistic regression models were used to explore whether the effect of alcohol consumption and physical activity on breast cancer was modified by additional breast cancer risk factors. Findings showed that increased alcohol consumption was associated with a higher breast cancer risk (OR = 1.26, 95% CI 1.01, 1.59). However, the association between lifestyle factors (alcohol consumption and physical activity) and breast cancer was generally the same for women at below average, average and above average risk of developing breast cancer. Therefore, additional breast cancer risk factors do not appear to modify the association between lifestyle (alcohol consumption and physical activity) and breast cancer. Considering the general health benefits, preventative lifestyle recommendations can be formulated about alcohol consumption and physical activity for women at all levels of breast cancer risk.     

Virome comparison of deferred blood donations obtained from different geographic regions in the Sao Paulo State,Brazil

The virome composition of blood units deferred due to symptomatic disease of the donors reported after blood donation may reveal novel or unsuspected viral agents which may have impact in the area of hemotherapy. The objective of this study was to compare the virome of blood donations obtained from two distantly located blood collecting institutions in the Saqo Paulo State and deferred from use due to post donation illness reports (PDIR). Plasma samples with PDIR due to different symptoms were collected in two cities of the Sao Paulo State (Sao Paulo city, 28 samples and Ribeirao Preto city, 11 samples). The samples were assembled in pools and sequenced in Illumina NextSeq 550 sequencer. The obtained raw sequencing data was analyzed using bioinformatic pipeline aiming viral identification. Phylogenetic classification of the most important contigs was also performed. The virome composition of the plasma samples obtained in both cities was different. This was more pronounced for some specific anellovirus types and the human pegivirus-1 (HPgV-1) which were exclusively found among donations obtained from the city of Sao Paulo. On the other hand, in PDIR samples from Ribeirao Preto, Dengue -2 reads were more abundant compared to commensal viral representatives. The obtained virome findings show that the differential viral abundance is related to geographic localization and specific disease endemicity. The virome of PDIR samples may be used to more profoundly analyze the hypothetic transfusion threats in a given location.     

Dorsal‐movement and ventral‐form regions are functionally connected during visual‐speech recognition

Faces convey social information such as emotion and speech. Facial emotion processing is supported via interactions between dorsal‐movement and ventral‐form visual cortex regions. Here, we explored, for the first time, whether similar dorsal–ventral interactions (assessed via functional connectivity), might also exist for visual‐speech processing. We then examined whether altered dorsal–ventral connectivity is observed in adults with high‐functioning autism spectrum disorder (ASD), a disorder associated with impaired visual‐speech recognition. We acquired functional magnetic resonance imaging (fMRI) data with concurrent eye tracking in pairwise matched control and ASD participants. In both groups, dorsal‐movement regions in the visual motion area 5 (V5/MT) and the temporal visual speech area (TVSA) were functionally connected to ventral‐form regions (i.e., the occipital face area [OFA] and the fusiform face area [FFA]) during the recognition of visual speech, in contrast to the recognition of face identity. Notably, parts of this functional connectivity were decreased in the ASD group compared to the controls (i.e., right V5/MT—right OFA, left TVSA—left FFA). The results confirmed our hypothesis that functional connectivity between dorsal‐movement and ventral‐form regions exists during visual‐speech processing. Its partial dysfunction in ASD might contribute to difficulties in the recognition of dynamic face information relevant for successful face‐to‐face communication.     

Efficacy of an oral health promotion intervention in the prevention of early childhood caries

Abstract – Objective: Despite a marked improvement in oral health of Australian children over the last 30 years, severe early childhood caries (S‐ECC) affects up to 17% of 2‐ to 3‐year‐old children with some requiring hospitalization and invasive treatment. This provided a compelling rationale to develop and test an oral health promotion programme which aimed to reduce this unnecessary suffering. The purpose of this study was to test the efficacy of an oral health promotion programme for the parents of infants, starting during the pregnancy, using a randomized controlled trial. Methods: A programme was developed around the provision of anticipatory guidance to nulliparous women (women expecting their first child) in Adelaide. Mothers in the test group received oral health promotion information during pregnancy, and later when the child reached 6 and 12 months of age. After the second round of information the test group mothers were randomized again. The information was reinforced in one of the test subgroups through a telephone consultation. There was no contact with mothers in the control group after enrolment. At the age of 20 ± 2.5 months all test and control group children were examined by a dentist. The case definition of an incidence of S‐ECC was one or more upper incisor teeth being carious at the level of a cavitated or noncavitated lesion. The differences in S‐ECC incidence between the test and control groups, and the test subgroups were analysed. Results: Of 649 women enroled in the programme (test group 327, control group 322), 441 had their child examined at follow‐up. The incidence of S‐ECC in the test group was 1.7% and in the control group 9.6% (P < 0.001). Conclusion: An oral health promotion programme based on repeated rounds of anticipatory guidance initiated during the mother’s pregnancy was successful in reducing the incidence of S‐ECC in these very young children.     

Psychological Effects of Dietary Fat Analysis and Feedback: A Randomized Feedback Design

Excess consumption of dietary fat promotes chronic disease such as heart disease and cancer. Dietary analysis and feedback are often used to motivate dietary change; however, little is known about how people process, react to, and use this feedback to change behavior. This study used a randomized feedback design to examine psychological reactions to dietary fat feedback. Subjects were assessed for fat consumption and then randomly assigned to a high, moderate, or low percentage of calories from fat feedback group. Findings indicate that there are strong emotional, cognitive, and behavioral reactions to providing high-fat dietary feedback. Subjects that were told their diets were high in fat reported stronger negative emotional reactions and also reported they had stronger intentions to change than the other two feedback categories. These results are compared with studies providing nonrandomly assigned risk factor feedback.     

Breast Cancer Survivors Undergoing Endocrine Therapy Have a Worrying Risk Factor Profile for Cardiovascular Diseases

The increased risk for cardiovascular diseases (CVDs) in breast cancer survivors has been widely discussed in the literature and occurs due to the cardiotoxicity of antineoplastic treatments, and also to the common risk factors between these diseases. Thus, the objective of our study was to evaluate, prospectively, the number of risk factors (NRF) for CVDs in women during endocrine therapy, and to associate the NRF with C reactive protein (CRP) and phase angle (PhA). The following risk factors for CVD were evaluated at three times: anthracycline chemotherapy, radiotherapy, comorbidities, inadequate diet, overweight, abdominal adiposity, alcoholism, smoking, physical inactivity and altered lipid profile. There was inadequacy in the most components of the Brazilian Healthy Eating Index—Revised and inadequate consumption of various types of fats and fibers. Most women in this study presented excessive abdominal fat and overweight, but these parameters have not changed over time (p < 0.005). Moreover, a high frequency of systemic arterial hypertension and physical inactivity was observed. The average NRF for CVDs was above ten, at the three evaluation times. Women with higher NRF had higher levels of CRP (p = 0.003), a predictor of cardiovascular risk, however, there was no significance with PhA (p = 0.256). Thus, intervention is needed to improve lifestyle.