Annals of Human Biology最新文献

Background: Idiopathic short stature (ISS) is defined as height more than two standard deviations below the mean for age and sex, without an identifiable pathological cause. Pharmacologic options such as growth hormone (GH), testosterone, and aromatase inhibitors (AIs) have been studied for their potential to promote height gain in affected children and adolescents.

Aim: To compare the efficacy of GH, testosterone, and AIs in promoting height gain in children and adolescents with ISS, considering both individual and combination treatments using a network meta-analysis.

Subjects and methods: This meta-analysis was conducted in accordance with the PRISMA 2020 guidelines. A systematic search was performed across PubMed, Embase, Web of Science, Google Scholar, Semantic Scholar, and ResearchRabbit. Eligible studies were selected on the basis of predefined inclusion criteria. Standardised mean differences (SMDs) and 95% confidence intervals (CIs) were calculated. Heterogeneity was assessed via the chi-square test and I² index. Publication bias was evaluated via funnel plots and Egger's test.

Results: All the treatment groups (GH, anastrozole, letrozole, AI+GH) demonstrated significantly greater height gains than did the placebo group. Letrozole was associated with the greatest increase in height (SMD = 0.83, 95% CI = 0.38-1.28). No statistically significant differences were observed among the active treatments. Oxandrolone did not significantly differ from the placebo (SMD = 0.52, 95% CI = -0.03-1.07).

Conclusion: GH, AIs, and combination therapies improve height in children and adolescents with ISS, with letrozole showing a modest advantage but no clear superiority, highlighting the need for individualised treatment.

Background: Children born preterm grow differently from those born at term.

Aim: To compare growth in length/height, weight, and BMI of preterm- and term-born children, grouped by birth weight (BW) and gestational age (GA).

Subjects and methods: Longitudinal data of 950 children (birth to 12 years) were collected retrospectively. Growth trajectories were modelled using SITAR (Superimposition by Translation and Rotation) by sex, with three groups each for GA and BW.

Results: SITAR summarised growth patterns from birth to 12 years and explained 76-79% of height variance, 90-92% for weight, and 72-75% for BMI. Early preterm and low BW groups were shorter, lighter and thinner on average than their term or normal BW peers, with late preterm and low-normal BW groups intermediate. Effects were larger for BW than GA, e.g. early preterm girls/boys were 0.3/0.8 kg lighter, 0.9/0.9 cm shorter and 0.8/0.8 kg/m² thinner, while low BW girls/boys were 0.5/1.0 kg lighter, 1.5/1.4 cm shorter and 0.8/0.9 kg/m² thinner. Moreover, faster growth rates were associated with lower BW.

Conclusion: Both BW and GA significantly impacted growth, but low BW more so than early preterm birth. This underscores the need for targeted interventions for low BW children to address potential long-term growth challenges.

Background: Household water insecurity is an accelerating global challenge with serious negative impacts on human health. The impacts of water insecurity can vary among household members. Biocultural buffering theory can explain the differential allocation of scarce water within households and predicts asymmetric allocation of scarce pooled resources to protect the most vulnerable.

Aim: To test the buffering theory of intra-household water allocation strategies.

Subjects and methods: Twenty reproductive-age women from extremely water-insecure households in Dhaka, Bangladesh, were interviewed and systematically-coded text from the guided interviews and an allocation task were analysed.

Results: Coding revealed 261 instances of buffering. Thematic analysis of allocation reasoning revealed patterning in water distribution within the household.

Conclusion: Household management of scarce water aligns to buffering theories, with women prioritising family members perceived to be vulnerable. These findings open new spaces to theorise how intra-household strategies of water allocation shape individual risk and safeguard human health, reconceptualise the dominant paradigm of negative experiences around living with water insecurity to encompass notions of care and shared wellbeing, and develop more sophisticated views of the mechanisms to connect embodied water insecurity to its individual-level health consequences in human biology.

Background: Single nucleotide polymorphisms (SNPs) of ghrelin gene are associated with cognitive function while ghrelin is associated with Alzheimer's disease (AD).

Aim: To determine the relationship between ghrelin SNPs, cognitive function, and activities of daily living (ADLs) in elderly AD patients.

Subjects and methods: This study included 100 elderly AD patients as the AD group, and 72 elderly healthy patients as the control group. Pearson's correlation analysis was performed.

Results: The frequency of the A allele at rs55821288 was significantly higher in the AD group than the control group (p < 0.05). Similarly, the frequency of the AA genotype at rs55821288 was higher in the AD group than the control group (p < 0.05). The MMSE, QOL-AD, and ADLs scores were lower in the AD group than the control group (p < 0.05). Pearson's correlation analysis revealed that the A allele at rs55821288 was inversely correlated with the MMSE, QOL-AD, and ADLs scores (p < 0.05). The distribution of the AA genotype at the rs55821288 locus had a negative linear correlation with the MMSE, QOL-AD, and ADLs scores (p < 0.05).

Conclusions: Ghrelin allele A and genotype AA are closely associated with cognitive function and ADLs among elderly AD patients.

Background: Mental toughness (MT) is a critical psychological construct in competitive sports, yet its relationship with physical fitness (PF) remains underexplored, particularly in adolescent athletes.

Aim: The main purpose of the study was to examine the associations between MT and different components of PF.

Subjects and methods: We recruited 114 children and adolescents (14.3 ± 0.9 years; 73.7% girls), who were active ballet dancers and competed at national level. MT was assessed using the Sport Mental Toughness Questionnaire. Components of PF included: the 20-m shuttle run test (cardiorespiratory fitness; CRF), the 2-kg medicine ball throw and the countermovement jump (muscular fitness; MF), the sit-and-reach test (flexibility) and fat mass percentage (body composition).

Results: Subscales and overall MT were positively correlated with CRF (r = 0.69-0.71, p < 0.001), MF (r = 0.63-0.79, p < 0.001) and flexibility (r = 0.52-0.71, p < 0.001), yet an inverse correlation with fat mass percentage (r = -0.59 - -0.58, p < 0.001) was observed. Boys exhibited higher MT and PF values, compared to girls, except for flexibility.

Conclusion: These findings suggest that improving PF may enhance MT, offering potential strategies for training young athletes.

Background: Vitiligo is an autoimmune disorder marked by melanocyte destruction and skin depigmentation.

Aim: To explore the molecular mechanisms underlying melanogenesis and their link to vitiligo.

Subjects and methods: We analysed three vitiligo-related datasets, correcting for batch effects with ComBat. Key melanogenesis genes were pinpointed using LASSO and logistic regression, and a nomogram was developed. The immune microenvironment was evaluated by ssGSEA, and correlations between gene expression, melanogenesis pathways, and immune cell infiltration were examined.

Results: We identified 2,405 DEGs, with 960 up-regulated and 1,445 down-regulated genes in vitiligo samples. GSVA indicated significant disturbances in melanogenesis pathways. ssGSEA revealed reduced activity in REACTOME_MELANIN_BIOSYNTHESIS and KEGG_MELANOGENESIS pathways. Three key diagnostic genes (CALM2, KIT, OCA2) were found and used to build a highly accurate predictive nomogram. Immune cell analysis showed increased T helper and Th2 cells in vitiligo, correlating with both diagnostic genes and melanogenic pathways.

Conclusion: This study identifies crucial melanogenesis-related genes and provides a predictive model for vitiligo risk. It underscores the relationship between impaired melanogenesis and immune cell infiltration, suggesting potential therapeutic targets.

Background: Bio-banding has been used to moderate disparities in maturity status between youth players of the same chronological age to support development.

Aim: The purpose of this study was to investigate male youth rugby union players' perceptions of bio-banded training compared to chronological age grouping.

Subjects and methods: Fifty-four U16 players participated in games-based bio-banded training before completing an eight-item Likert scale questionnaire, with the option of providing an explanation for each response. Aligning with typical peak height velocity (PHV) categories, maturity banding was based upon percentage of predicted adult height (i.e. circa-PHV ≤95% and post-PHV ≥96%). A series of one-sample and Welch's t-tests were used to analyse quantitative data, and qualitative data were assessed using an inductive thematic analysis.

Results: Irrespective of maturity status, the majority of players perceived they understood and enjoyed most aspects of the bio-banding format and believed they were less likely to get injured compared to chronological age grouping. Both maturity groups perceived bio-banding facilitated superior psychosocial capacities and offered a greater technical and tactical challenge, whilst circa-PHV and post-PHV players perceived bio-banding as less and more physically challenging than chronological age grouping, respectively.

Conclusion: The results suggest using bio-banded grouping for training, as an adjunct to chronological age grouping, may positively contribute to the holistic development of male youth players in rugby union irrespective of maturity status.

Background: Humans spend up to 90% of their time indoors and are exposed to a significant number of microbes in their homes, which can have important implications for their health.

Aim: This study focused on analysing the influence of environmental factors on microbiome diversity and abundance in bed dust and linking the exposure to dust bacteria with asthma.

Subjects and methods: A total of 90 dust samples were collected from homes of asthmatic patients (n = 59) and controls (n = 31) aged 5-18 years. The bacterial fraction of the microbiome was analysed using 16S rRNA gene high-throughput sequencing on the Illumina MiSeq platform and downstream analyses in QIIME2 and R. Microbiome profiles were associated with asthma and relevant environmental and household data.

Results: Higher bacterial β-diversity in the environment was shown to be inversely associated with asthma (p = 0.009). Also, living environment (p = 0.002), housing type (p = 0.004), presence of pets in the household (p = 0.001), and cleaning practices (p = 0.006 for dusting and p = 0.011 for vacuuming) were prominent environmental factors affecting the bed dust microbiome.

Conclusion: Our results suggest significant differences in bacterial community composition between individuals with and without asthma and the interaction between indoor microbiome and asthma is mediated by environmental factors in the household.

Background: The multifunctional cytokine interleukin 6 (IL-6) and its single nucleotide polymorphisms (SNPs) may influence the risk of Parkinson's disease (PD).

Aim: To investigate the association between specific SNPs in the IL-6 gene and susceptibility to PD in the northern Chinese Han population.

Subjects and methods: A total of 800 Chinese Han subjects were enrolled in this case-control study, including 400 PD patients and 400 healthy controls. Peripheral blood of all subjects was collected for DNA extraction and genotyped for selected SNPs (rs1800796, rs1524107) using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).

Results: We found significant differences in the allele (C vs. G, p = 0.002) and CC genotype (p = 0.012) of rs1800796 in the PD group compared to the control group. In addition, significant differences were observed between the two groups in both dominant and additive models (p_dominant=0.046, p_additive=0.025). In further subgroup analysis, compared with the matched male control group, the frequency of CC genotype in male PD was higher (p = 0.035), and allele C may increase the risk of disease (p = 0.012). Similarly, when compared to the healthy control group, patients in the late-onset Parkinson's Disease (LOPD) group also exhibited a higher frequency of CC genotype and C allele (p_genotype = 0.015, p_alle = 0.004).

Conclusion: The rs1800796 polymorphism of the IL-6 gene may be associated with susceptibility to PD in the northern Chinese Han population.