Annals of Human Biology最新文献

Background: Iron deficiency is one of the leading causes of anaemia, with those most affected being children and women of childbearing age, in Brazil there is a scarcity of studies involving the local prevalence of anaemia. Aim: To evaluate anaemia and associated factors in schoolchildren in Santa Cruz do Sul through the analysis of biochemical and haematological markers and parasitological examination of faeces. Subjects and methods: School children from 10 to 12 years of age were evaluated through complete blood count, serum ferritin, C-reactive protein and stool parasitological examination, as well as socio-demographic characteristics and prophylaxis with ferrous sulphate in childhood. Results: It was found that 13.0% of the population was anaemic, girls were very slightly overrepresented among the anaemic children. Only 5.3% had altered haematocrit levels; 26.6% had low Mean Corpuscular Volume levels; 18.4% had low ferritin levels; 2.4% had increased C-reactive protein levels, and 21.7% had altered eosinophils. As for the socioeconomic level, classes A2 and D presented lower haemoglobin levels, as well as class D presenting lower ferritin levels, although without statistical significance. Only 6.0% of the population presented iron-deficiency anaemia and 46.0% of the schoolchildren had used ferrous sulphate supplementation in childhood. Conclusion: The prevalence of anaemia in the studied municipality is low, probably due to the high municipal human development index. Epidemiological studies are essential to characterise the population in a systematic form, to prevent future problems.

Background: Cuproptosis, a type of cell death involving copper ion accumulation and oxidative stress, has been implicated in the development of Alzheimer's disease (AD).

Aim: This study aimed to explore the potential mechanisms and roles of cuproptosis-related genes (CRGs), long non-coding RNAs (lncRNAs), and immune cells in the development of cuproptosis in AD.

Subjects and methods: Gene expression profiles of AD were acquired from the Gene Expression Omnibus (GEO) database, and differential analysis was conducted to identify CRGs. Random Forest (RF) modelling was employed to select the most crucial CRGs, which were subsequently validated in the test set. A nomogram model was created to predict AD risk and categorise AD subtypes based on the identified CRGs. A lncRNA-related ceRNA network was built, and immune cell infiltration analysis was conducted.

Results: Twelve differentially expressed CRGs were identified in the AD dataset. The RF model pinpointed the five most critical CRGs, which were validated in the test set with an AUC of 0.90. A lncRNA-related ceRNA network was developed, and immune cell infiltration analysis revealed high levels of M1 macrophages and mast cells, along with low levels of memory B cells in AD samples. Correlation analysis unveiled associations between CRGs, lncRNAs, and differentially infiltrating immune cells.

Conclusion: This research offers insights into the potential mechanisms and roles of CRGs, lncRNAs, and immune cells in the development of cuproptosis in AD. The identified CRGs and lncRNAs may serve as potential therapeutic targets for AD, and the nomogram model may assist in early AD diagnosis and subtyping.

Background: Inbreeding, arising from consanguinity between related parents, has been observed to impact the health of individuals, typically attributed to biological factors. Nevertheless, these effects may be influenced by the social and environmental conditions. The prevalence of consanguineous marriages increased in certain parts of Sweden after it became legal in 1844, which offers a unique opportunity to study and understand the effects of inbreeding on health.

Aim: The objective of this study is to explore the potential impact of inbreeding on the longevity, fertility, and impairments of individuals born in the Skellefteå region, Sweden, between 1890 and 1905, with a follow-up period extending until 1950.

Subjects and methods: The level of inbreeding is calculated using micro-level parish register data and related to longevity, fertility, and impairments using regression analysis.

Results: Inbreeding is shown to be associated with longevity, fertility, and impairments. It seems to affect the risk of stillbirth and impairments and male longevity and fertility.

Conclusion: Inbreeding seems to have had a detrimental effect on some health outcomes in this historical population under study.

Background: Very low birthweight (VLBW) infants are at risk for growth failure and poor neurodevelopment. Optimised parenteral nutrition may help promote optimal growth and development, but concerns that provision of enhanced nutrition may contribute to increased early adiposity and later metabolic disease remain.

Aim: To determine associations between provision of an early enhanced parenteral nutrition protocol or standard parenteral nutrition protocol and growth and body composition for VLBW preterm infants in the neonatal intensive care unit.

Subjects: This is a secondary analysis of data from a clinical trial aimed at assessing the feasibility and safety of randomising VLBW preterm infants to Standard (n = 45) or Intervention (n = 42) parenteral nutrition groups between August 2017 and June 2019.

Methods: We evaluated associations between weekly infant growth and body composition measurements from n = 55 infants (Standard = 29, Intervention = 26) that were clinically stable enough to have body composition measurements taken before discharge using mixed effects linear regression models.

Result: No statistically significant associations between nutrition group and infant growth or body composition measures were observed (p >.05).

Conclusion: In this pilot trial, enhanced parenteral nutrition in the first week of life was not associated with significant differences in infant growth or body composition during hospitalisation.

Context: Robust associations have been identified between fertility during adolescence and the disablement process, including pathologies, impairments, functional limitations and disability. Limited theoretical or empirical research considers how and why such relationships exist generally or with the individual associated components of disablement.

Objective: To consolidate and critically evaluate literature to describe testable, theory-based hypotheses to guide future research on the mechanisms by which fertility during adolescence contributes to disablement.

Methods: Targeted literature review of research from diverse global settings contextualised in two well-accepted theoretical frameworks in life-course epidemiology: the cumulative risk model and the critical period approach.

Results: Five hypothesised causal pathways linking adolescent fertility to disablement in later life are described: 1) Causal relationship initiated by fertility during adolescence; 2) Common cause(s) for both, such as adverse childhood experiences; 3) Contributing cause(s) to adolescent fertility; 4) Interaction between adolescent fertility and other risk factors; and 5) Critical period effects unique to adolescence. Most research on the topic is on pathologies versus functional limitations and disability.

Conclusion: We highlight promising research avenues to inform future research and interventions on adolescent fertility and the disablement process. This work provides theoretical clarity, identifies research gaps, and offers hypotheses-testing opportunities for future research.

Background: Short tandem repeat (STR) markers are widely used in forensic DNA analysis due to their ability to provide automated and standardised typing. However, incorrect STR typing can have a significant impact on forensic outcomes.

Aim: In this study, we detected drop-out alleles at the SE33 locus in a putative father-son pair using the Microreader^™ 28 A ID System. This result could lead to a false conclusion of non-paternity.

Subjects and methods: To investigate the cause of the drop-out alleles, we developed a nest and touch-down PCR program for Sanger sequencing of the SE33 locus. Subsequently, we investigated the mutation frequency in 300 unrelated individuals and reviewed the results of 429 paternity tests.

Results: The results showed that the frequency of the G > T mutation at this locus was less than 0.01, which is a novel and rare mutation. Our analysis revealed a novel G > T mutation in the primer-binding region of both samples, which was a rare single-nucleotide mutation site in the Chinese population. This variation was found to be responsible for the drop-out alleles observed in the samples.

Conclusion: Our findings have important implications for optimising primer design and constructing DNA databases for forensic analysis.