👤 M E Goddard

The apolipoprotein E epsilon 4 (APOE ε4) gene is associated with an increased risk of developing sporadic Alzheimer's disease (AD). Several studies have focused on declarative memory, where episodic memory deficits are reported in ε4 carriers, while semantic memory has received much less attention. To clarify whether the impact of APOE ε4 on declarative memory is specific to episodic memory, we administered a novel measure of autobiographical memory, the Semantic Autobiographical Interview. Thirty-eight healthy older adults were recruited, 19 ε4 carriers and 19 noncarriers, matched in age, education, and gender. The groups did not significantly differ in any neuropsychological tests except for recognition memory, where ε4 carriers showed reduced performance. On the original Autobiographical Interview (AI), results revealed a reduced number of target details in carriers. Together, these results suggest a reduction of episodic specificity in ε4 carriers. In contrast, carriers had very similar semantic production to noncarriers, whether it was for off-task semantic details in the AI, or on-task general and personal semantic details produced in the Semantic Autobiographical Interview. These results suggest that older adults retain the gist of their personal experience and that the semanticization of their autobiographical narratives is robust and less sensitive to risk for AD than episodic memory. (PsycInfo Database Record (c) 2026 APA, all rights reserved). Show less

Dairy cattle, particularly in Australia where dairy farming is predominantly pasture based, are experiencing an increased incidence of heat stress through rising global temperatures, causing a detrimental impact on productivity and welfare. Improving the thermotolerance of dairy cows through genetic selection is a potential proactive solution for mitigating the impact of heat stress for the dairy industry. Although heat tolerance breeding values for milk yield traits have been available to Australian dairy producers since 2017, considerable potential remains to develop genetic evaluation for heat tolerance of fertility and understanding of the underlying genetic architecture for heat tolerance. The objective of this study was to investigate the effect of heat stress measured as temperature and humidity index (THI) on fertility traits and to identify genomic regions associated with heat tolerance in 2 specific fertility traits: first service non-return rate (FNRR) and successful calving rate to first service (SCRFS). In this study, we assembled more than 892k phenotypic records of Holstein cows with THI and fertility traits and identified specific periods with respect to service day. The effect of heat stress on fertility was assessed using random regression (RR) sire model for estimating the change in genetic variance of fertility across various THI and obtaining heat tolerance solution (slope) for sires. Also, whole genome sequence genome-wide association studies (GWAS) were undertaken based on heat tolerance phenotypes of 5k Holstein bulls with at least 10 daughters with fertility data. The assessment of the different THI definitions based on different numbers of days before and after artificial service days on the fertility traits showed that the most prominent effect of THI on fertility outcomes was observed for THI 7 d preceding service (including the service day) and 6 d after service day. Heat tolerance (HT) traits with respect to FNRR and SCRFS are lowly heritable and ranged from 0.01 to 0.04 under moderate THI conditions ranging between 60 and 70. However, as the THI exceeded 70, the heritability increased to up to 0.08, indicating increased genetic variance as THI increased. Genetic correlations between extreme THI ranges were as low as 0.13, while correlations between consecutive THI ranges reached up to 0.98. This finding suggests the presence of genotype by environment interactions due to heat stress. Notable variation in heat stress sensitivity among sires was also observed for HT fertility. In total, 553 sequence variants were significantly associated HT fertility, and 52 of them were identified as independent QTL. Some of QTL regions were located near or within the genes that are involved in oxidative stress, inflammation, and fertility (e.g., TRPC5, CDK5RAP2, MGAT1, COMMD10, PRR7, GRK6, CUGBP1, MAFG, HERC2, NAPRT, HSD17B12, THRB, and EEF1D). The findings in this study will further aid in understanding genetic architecture and provide valuable information for improving the accuracy of genomic prediction of heat tolerance in dairy cattle. Show less

Batten disease is a rare, progressive neurogenetic disorder composed of 13 genotypes that often presents in childhood. Children present with seizures, vision loss, and developmental regression. Neurorehabilitation services (i.e., physical therapy, occupational therapy, and speech-language therapy) can help improve the quality of life for children and their families. Owing to the rarity of Batten disease, there are no standardized clinical recommendations or outcome assessments. To describe developmental profiles, current dose of neurorehabilitation, and outcome assessments used clinically for children diagnosed with Batten disease. Electronic medical records of 70 children with Batten disease (subtypes n = 5 CLN1; n = 25 CLN2; n = 23 CLN3; n = 17 CLN6) were reviewed (7.0 ± 3.4 years). Descriptive statistics were used to describe clinical features, developmental skills, dose of neurorehabilitation, and outcome assessment use. Across CLN subtypes, most children experienced vision impairments (61%) and seizures (68%). Most children demonstrated delays in fine motor (65%), gross motor (80%), cognitive (63%), and language skills (83%). The most common frequency of neurorehabilitation was weekly (42% to 43%). Two standardized outcome assessments were used to track developmental outcomes: Peabody Developmental Motor Scales, second edition (30% of children completed this assessment) and Preschool Language Scales, fifth edition (27.4% of children completed this assessment). Neurorehabilitation professionals should understand the clinical features and prognosis for children with Batten disease. The child's clinical features and family preferences should guide the rehabilitation plan of care. Future work needs to be completed to define dosing parameters and validate outcome assessments for neurorehabilitation services. Show less

Obesity is globally prevalent and highly heritable, but its underlying genetic factors remain largely elusive. To identify genetic loci for obesity susceptibility, we examined associations between body mass index and ∼ 2.8 million SNPs in up to 123,865 individuals with targeted follow up of 42 SNPs in up to 125,931 additional individuals. We confirmed 14 known obesity susceptibility loci and identified 18 new loci associated with body mass index (P < 5 × 10⁻⁸), one of which includes a copy number variant near GPRC5B. Some loci (at MC4R, POMC, SH2B1 and BDNF) map near key hypothalamic regulators of energy balance, and one of these loci is near GIPR, an incretin receptor. Furthermore, genes in other newly associated loci may provide new insights into human body weight regulation. Show less