Cognitive performance among carriers of pathogenic copy number variants: analysis of 152,000 UK Biobank subjects

Background The UK Biobank is a unique resource for biomedical research, with extensive phenotypic and genetic data on half a million adults from the general population. We aimed to examine the effect of neurodevelopmental copy number variants (CNVs) on the cognitive performance of participants. Methods We used Affymetrix Power Tools and PennCNV-Affy software to analyze Affymetrix microarrays of the first 152,728 genotyped individuals. We annotated a list of 93 CNVs and compared their frequencies with control datasets. We analyzed the performance on seven cognitive tests of carriers of 12 CNVs associated with schizophrenia (n = 1087) and of carriers of another 41 neurodevelopmental CNVs (n = 484). Results The frequencies of the 93 CNVs in the Biobank subjects were remarkably similar to those among 26,628 control subjects from other datasets. Carriers of schizophrenia-associated CNVs and of the group of 41 other neurodevelopmental CNVs had impaired performance on the cognitive tests, with nine of 14 comparisons remaining statistically significant after correction for multiple testing. They also had lower educational and occupational attainment (p values between 10−7 and 10−18). The deficits in cognitive performance were modest (Z score reductions between 0.01 and 0.51), compared with individuals with schizophrenia in the Biobank (Z score reductions between 0.35 and 0.90). Conclusions This is the largest study on the cognitive phenotypes of CNVs to date. Adult carriers of neurodevelopmental CNVs from the general population have significant cognitive deficits. The UK Biobank will allow unprecedented opportunities for analysis of further phenotypic consequences of CNVs

Islamic Education Guidance for Elderly at Pertapis Senior Citizen and Fellowship Home (PSCFH)

Maturity is not an indication of age but its development depends on the primary education in Islam nurtured since young. A person needs to equip themselves with religious knowledge to prepare them for the Day of Reckoning and it is found that not all elderly is as well equipped. As such, the objective of this article is to study how senior citizen at Pertapis Senior Citizen and Fellowship Home (PSCFH) are guided in their Islamic Education. The research was planned to be conducted in person at PSCFH through interviews, observation and documentation. However, the Covid-19 pandemic had affected the method due to Safety Management System, as an alternative, the research was conducted through phone interviews, video observation, information found from YouTube and websites as to collect all the relevant data. These are then analyzed using triangulation. It was found that in PSCFH had prioritized religious education guidance for the elderly. Alongside to this, the mission and vision by PSCFH is to provide psychological care towards health and wellness of the elderly, so as to benefit the elderly and not cause issues in the society. It is suggested that the religious education is supplemented with Fiqh studies concerning daily living other than reading the Al-Quran only. The elderly is encouraged to Zikir more as to strengthen faith to be closer to Allah and motivates them to be peaceful and independent. Abstrak         Kematangan sesaorang bukanlah bergantung kepada usia, tetapi perkembangan kematangan adalah dari latar belakang Pendidikan Ilmu agama yang diwarisi. Pengetahuan agama perlu diperoleh sebagai bekal diri untuk bertemu kepada Allah pada hari kebangkitan dan ternyata tidak semua warga tua yang memilikinya. Dengan demikian tujuan penulisan ini menyasarkan kepada warga tua usia lanjut untuk mendapatkan bimbingan Pendidikan Agama Islam di rumah kebajikan Muhibbah Warga Tua Pertapis. Penelitian seharusnya dilakukan secara penelitian lapangan melalui wawancara, observasi, dan dokumentasi, tetapi ketika penulisan ini untuk diselesaikan, dunia sedang mengalami wabah covid-19. Oleh yang demikian penelitian secara tatap muka terbatas dengan adanya system  jarak jauh yang dikuat kuasakan. Sebagai alternatif, penelitian dilakukan secara wawancara ditalian, video observasi, menggali informasi melalui akun youtube dan jaringan alam maya untuk mengumpulkan maklumat yang asli. Ianya di Analisa dengan triangulasi. Hasil dari penelitian, terdapat bimbingan pengajian agama dalam pendidikan rohani yang diutamakan untuk orang tua lansia dirumah kebajikan ini. Sejajar dengan Pendidikan agama, penjagaan lansia melalui psikologi yang mengarah kepada kesihatan dan kesejahteraan menjadi  misi dan visi, supaya dapat memberi menafaat kepada lansia dan tidak melahirkan isu-isu kebimbangan kepada masyarakat. Sebagai saranan, bimbingan agama perlu disentuh lebih banyak kepada ilmu ‘fiqh’ yang berkaitan dengan kehidupan harian selain dari membaca al-Quran sahaja. Mengggalakan lebih banyak berzikir supaya lansia dapat meningkatkan keimanan dengan lebih mendekati kepada Allah dan ini akan mendorong lansia lebih merasa tenang dan berdikari

Medical consequences of pathogenic CNVs in adults: Analysis of the UK Biobank

Background: Genomic CNVs increase the risk for early-onset neurodevelopmental disorders, but their impact on medical outcomes in later life is still poorly understood. The UK Biobank allows us to study the medical consequences of CNVs in middle and old age in half a million well-phenotyped adults. Methods: We analysed all Biobank participants for the presence of 54 CNVs associated with genomic disorders or clinical phenotypes, including their reciprocal deletions or duplications. After array quality control and exclusion of first-degree relatives, we compared 381 452 participants of white British or Irish origin who carried no CNVs with carriers of each of the 54 CNVs (ranging from 5 to 2843 persons). We used logistic regression analysis to estimate the risk of developing 58 common medical phenotypes (3132 comparisons). Results and conclusions: Many of the CNVs have profound effects on medical health and mortality, even in people who have largely escaped early neurodevelopmental outcomes. Forty-six CNV–phenotype associations were significant at a false discovery rate threshold of 0.1, all in the direction of increased risk. Known medical consequences of CNVs were confirmed, but most identified associations are novel. Deletions at 16p11.2 and 16p12.1 had the largest numbers of significantly associated phenotypes (seven each). Diabetes, hypertension, obesity and renal failure were affected by the highest numbers of CNVs. Our work should inform clinicians in planning and managing the medical care of CNV carriers

Effects of degree and timing of social housing on reversal learning and response to novel objects in dairy calves

Rodents and primates deprived of early social contact exhibit deficits in learning and behavioural flexibility. They often also exhibit apparent signs of elevated anxiety, although the relationship between these effects has not been studied. To investigate whether dairy calves are similarly affected, we first compared calves housed in standard individual pens (n = 7) to those housed in a dynamic group with access to their mothers (n = 8). All calves learned to approach the correct stimulus in a visual discrimination task. Only one individually housed calf was able to re-learn the task when the stimuli were reversed, compared to all but one calf from the group. A second experiment investigated whether this effect might be explained by anxiety in individually housed animals interfering with their learning, and tested varying degrees of social contact in addition to the complex group: pair housing beginning early (approximately 6 days old) and late (6 weeks old). Again, fewer individually reared calves learned the reversal task (2 of 10 or 20%) compared to early paired and grouped calves (16 of 21 or 76% of calves). Late paired calves had intermediate success. Individually housed calves were slower to touch novel objects, but the magnitude of the fear response did not correlate with reversal performance. We conclude that individually housed calves have learning deficits, but these deficits were not likely associated with increased anxiety

Men’s oppressive beliefs predict their breast size preferences in women

Previous studies of men’s breast size preferences have yielded equivocal findings, with studies variously indicating a preference for small, medium, or large breasts. Here, we examined the impact of men’s oppressive beliefs in shaping their female breast size ideals. British White men from the community in London, England (N = 361) viewed figures of women that rotated in 360° and varied in breast size along five levels. They then rated the figure that they found most physically attractive and also completed measures assessing their sexist attitudes and tendency to objectify women. Results showed that medium breasts were rated most frequent as attractive (32.7 %), followed by large (24.4 %) and very large (19.1 %) breasts. Further analyses showed that men’s preferences for larger female breasts were significantly associated with a greater tendency to be benevolently sexist, to objectify women, and to be hostile towards women. These results were discussed in relation to feminist theories, which postulate that beauty ideals and practices in contemporary societies serve to maintain the domination of one sex over the other

Sensory Modulation of Juvenile Play in Rats

A series of experiments was conducted to determine the extent to which somatosensory stimulation is necessary for the elaboration of juvenile play in rats. Anesthetization of the dorsal body surface of juvenile rats with xylocaine reduced the frequency of pinning, an indicator variable for play, by 35% to 70%, while motivation to play, measured by dorsal contacts, an index of play solicitation, remained largely intact. These data suggest that dorsal body surface anesthetization impairs the ability of juvenile rats to perceive and/or respond to playful gestures. When untreated animals were paired with xylocaine-treated animals, the xylocaine-treated animals consistently pinned the untreated pups more than vice versa, further suggesting that somatosensation may be involved in the establishment and/or maintenance of play dominance relations. A preliminary examination assessing potential involvement of other modalities in the play of rats was also conducted, with the data suggesting a possible role for audition in the play of this species

Deficient responses from the lateral geniculate nucleus in humans with amblyopia

Amblyopia or lazy eye is the most common cause of uniocular blindness in adults. It is caused by a disruption to normal visual development as a consequence of unmatched inputs from the two eyes in early life, arising from a turned eye (strabismus), unequal refractive error (anisometropia) or form deprivation (e.g. cataract). Animal models based on extracellular recordings in anesthetized animals suggest that the earliest site of the anomaly in the primate visual pathway is the primary visual cortex (corresponding to the striate cortex, cytoarchitectonic area 17 and area V1), which is where inputs from the two eyes are first combined in an excitatory fashion, whereas more distal and monocular processing structures such as the retina and lateral geniculate nucleus (LGN) are normal. Using high-field functional magnetic resonance imaging in a group of human adults with amblyopia, we demonstrate that functional deficits are first observable at a thalamic level, that of the LGN. Our results suggest the need to re-evaluate the current models of amblyopia that are based on the assumption of a purely cortical dysfunction, as well as the role for the LGN in visual development

Effects of pathogenic CNVs on physical traits in participants of the UK Biobank

Background Copy number variants (CNVs) have been shown to increase risk for physical anomalies, developmental, psychiatric and medical disorders. Some of them have been associated with changes in weight, height, and other physical traits. As most studies have been performed on children and young people, these effects of CNVs in middle-aged and older people are not well established. The UK Biobank recruited half a million adults who provided a variety of physical measurements. We called all CNVs from the Affymetrix microarrays and selected a set of 54 CNVs implicated as pathogenic (including their reciprocal deletions/duplications) and that were found in five or more persons. Linear regression analysis was used to establish their association with 16 physical traits relevant to human health. Results 396,725 participants of white British or Irish descent (excluding first-degree relatives) passed our quality control filters. Out of the 864 CNV/trait associations, 214 were significant at a false discovery rate of 0.1, most of them novel. Many of these traits increase risk for adverse health outcomes: e.g. increases in weight, waist-to-hip ratio, pulse rate and body fat composition. Deletions at 16p11.2, 16p12.1, NRXN1 and duplications at 16p13.11 and 22q11.2 produced the highest numbers of significant associations. Five CNVs produced average changes of over one standard deviation for the 16 traits, compared to controls: deletions at 16p11.2 and 22q11.2, and duplications at 3q29, the Williams-Beuren and Potocki-Lupski regions. CNVs at 1q21.1, 2q13, 16p11.2 and 16p11.2 distal, 16p12.1, 17p12 and 17q12 demonstrated one or more mirror image effects of deletions versus duplications. Conclusions Carriers of many CNVs should be monitored for physical traits that increase morbidity and mortality. Genes within these CNVs can give insights into biological processes and therapeutic interventions

Pre-weaning environmental enrichment increases piglets' object play behaviour on a large scale commercial pig farm

Environmental enrichment is a legal requirement for European pig farms. The suitability of enrichment materials for neonatal pigs is understudied and has not been tested in commercial settings. This study investigates the effect of hanging objects and substrate as two enrichment strategies pre-weaning, and compares the effect of these enrichment objects on play behaviour, aggression, growth and stress coping ability during lactation until 10 days after weaning. Farrowing crates were equipped with either six hanging objects (OB), a substrate box with wood bark (SUB), or nothing (control; CON). The behaviour of over 600 piglets (∼210 piglets/treatment) was recorded weekly by instantaneous scan sampling (10 seconds/piglet, repeated 6 times per day for 6 days). Aggression was monitored through skin lesions on focal piglets on 1 day before weaning and 1 and 2 days after weaning. Piglets were weighed individually every week. Stress coping ability was assessed through salivary cortisol from a sample of six piglets per litter on 1 day before (baseline), and on days 1 and 2 after weaning. Both enrichment groups showed more object play during lactation as compared to the control group (P < 0.001). The amount of object play increased linearly with age (P < 0.001). Enrichment did not affect social play or locomotor play during lactation. Enrichment did not influence the amount of skin lesions before weaning, but heavier piglets had more skin lesions (P < 0.01). The enrichment strategies had no influence on weight gain at any stage. The baseline of the salivary cortisol concentration was similar amongst the treatment groups; however, the cortisol concentration of the object group and control group was significantly higher at one day after weaning than at baseline (P < 0.001) whereas the substrate group showed no significant increase. In conclusion, providing either hanging objects or substrate alone could encourage neonatal piglets to express more object play behaviour. Compared to the hanging objects, providing substrate in the commercial neonatal environment demonstrated to decrease piglets’ stress at weaning, and therefore increase animal welfare