Search Results (303)

Acute myeloid leukemia (AML) is a malignant hematological tumor with a high prevalence in elderly people, and circular RNA (circRNA) plays an important role in age-related diseases. Induction of cancer cell senescence is a highly promising therapeutic strategy; however, the presence of senescence-associated circRNAs in AML remains to be elucidated. Here, we show that the expression patterns of circRNAs differed between elderly AML patients and healthy volunteers. circSATB1 was significantly overexpressed in elderly patients and AML cells. Knockdown of circSATB1 resulted in the inhibition of proliferation and arrest of the cell cycle in the G0/G1 phase; no effect on apoptosis or DNA integrity was observed, and precocious cellular senescence was promoted, characterized by no change in telomere length. Database analysis revealed that there may be two miRNA and nine RNA-binding proteins (RBPs) involved in regulating the cellular functions of circSATB1. Our observations uncover circSATB1-orchestrated cell senescence in AML, which provides clues for finding more modest therapeutic targets for AML. Full article

Modern life, characterized by constant exposure to artificial light from electronic devices, such as light-emitting diodes (LEDs), disrupts the natural circadian rhythm and induces important metabolic changes. The impact of blue light exposure on male and female rat’s onset of puberty, hormonal and biochemical parameters was assessed by comparison between the four study groups: the control group (CTRL) maintained under normal light conditions, the group exposed to blue light from a mobile phone (MP), the group subjected to blue light from a computer screen (PC), and the group exposed to blue light from an LED lamp (LED). Both female and male rats exposed to PC and LED failed to thrive, with a significantly lower body weight intake than the CTRL group. All three distinct sources of blue light interfered with the cyclicity of the estrous cycle in female rats. A marked decrease in the number of complete estrous cycles and the highest incidence of incomplete cycles were noticed in the LED group. Elevated ALT, AST, glucose, and insulin levels were influenced in a gender-specific manner, and depending on the source of emitted light. Prolonged blue light exposure induces significant metabolic disruptions and possesses important future research potential in identifying explicit pathways regarding this environmental stressor. Full article

Amomum villosum Lour., a perennial medicinal plant in the Zingiber genus, usually requires approximately 3–4 years of vegetative growth from seed germination to first fruiting, resulting in high initial investment costs and a prolonged revenue cycle, which pose significant challenges to the industry’s sustainable development. Our research team observed a distinct premature fruiting phenomenon in A. villosum. We investigated the regulatory mechanisms underlying premature fruiting in A. villosum by identifying the key differentially expressed genes (DEGs) and metabolic pathways governing the premature fruiting (Precocious) and typical plants (CK) of the ‘Yunsha No.8’ cultivar. Transcriptomic sequencing (RNA-seq) and bioinformatic analyses were performed using the DNBSEQ^TM platform. The sequencing generated 29.0 gigabases (Gb) of clean data, and 115,965 unigenes were identified, with an average length of 1368 bp. Based on the sequencing results, 1545 DEGs were identified. Gene ontology (GO) analysis and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis were annotated for these DEGs. This study identifies phytohormone signaling, carbohydrate and lipid metabolism, and polysaccharide degradation as critical pathways controlling premature fruiting in A. villosum. Six randomly selected DEGs were validated using real-time fluorescence quantitative polymerase chain reaction (RT-qPCR), and the results corroborated the transcriptome data, confirming their reliability. This study lays the foundation for the elucidation of the molecular mechanisms and metabolic pathways driving premature fruiting in A. villosum. Full article

Objective: To investigate the association between serum 25-hydroxyvitamin D [25(OH)D] levels and clinical, hormonal, and auxological features in girls with idiopathic central precocious puberty (CPP). Methods: This retrospective study included 122 girls diagnosed with idiopathic CPP. Participants were stratified into three groups based on serum 25(OH)D concentrations: deficient (<20 ng/mL), insufficient (20–30 ng/mL), and sufficient (>30 ng/mL). Clinical and hormonal parameters were compared across groups. Spearman’s correlation and multiple linear regression analyses were used to explore the relationship between vitamin D levels and peak luteinizing hormone (LH) response to gonadotropin-releasing hormone (GnRH) stimulation. Results: No significant differences were observed among the vitamin D groups in terms of age at diagnosis, body mass index (BMI), or other auxological measures. However, serum 25(OH)D levels showed a weak but significant positive correlation with LH peak values (rho = 0.23, p = 0.037). In multivariable regression analysis, vitamin D levels remained an independent predictor of LH peak (β = 0.125, p = 0.036), whereas BMI standard deviations (SDS), growth velocity SDS, and age at diagnosis did not show significant associations. Conclusions: Higher serum vitamin D levels are independently associated with greater LH peak responses in girls with idiopathic CPP. These findings support a potential modulatory role of vitamin D in the neuroendocrine mechanisms underlying pubertal onset and warrant further prospective studies to clarify its clinical relevance. Full article

Optimized earth-rock allocation is key in the construction of large-scale navigation channel projects. This paper analyzes the characteristics of a large-scale navigation channel project and establishes an earth-rock allocation system in phases and categories without a transit field. Based on the physical characteristics of the earthwork and stonework used to design a differentiated transport strategy, a synergistic optimization model is built with economic and ecological benefits. As a solution, this paper proposes a sustainable earth-rock allocation optimization method that integrates the improved ant colony algorithm and firefly algorithm, and establishes a two-stage hybrid optimization framework. The application of the Pinglu Canal Project shows that ant colony optimization via division and cooperation combined with the firefly algorithm reduces the transportation cost by 0.128% compared with traditional ant colony optimization; improves the stability by 57.46% (standard deviation) and 59.09% (coefficient of variation) compared with ant colony optimization through division and cooperation; and effectively solves the problems of precocious convergence and local optimization of large-scale earth-rock allocation. It is used to successfully construct an earth-rock allocation model that takes into account the efficiency of the project and the protection of the ecological system in a dynamic environment. Full article

Background/Objectives: To evaluate the effect of triptorelin on final height of girls with precocious or early puberty, compared to the untreated group, and to investigate factors that contribute to its maximum effectiveness in terms of final height. Methods: We collected for the last two decades the data of patients evaluated in our Pediatric Endocrinology Clinic for precocious (PP) (thelarche before 8 years of age) or early puberty (EP) (thelarche before 9 years of age) during the last two decades. Our final set included 178 girls (85 with precocious and 93 with early puberty, of whom 85 received triptorelin). Final heights, measured and documented by health professionals, and the exact date of menarche were collected after telephone communication. Logistic regression analysis assessed the effect of various parameters on the response to treatment. Results: Τhe difference in mean standard deviation (ΔSDS) of final and midparental height did not show significant difference between treated and untreated girls (ΔHeight SDS (Final − Midparental): −0.20 ± 0.89 vs. −0.28 ± 0.83, p = 0.243). The results were similar when we compared the EP (−0.22 ± 0.71 vs. −0.17 ± 0.83, p = 0.778) and PP (−0.19 ± 1.04 vs. −0.39 ± 0.83, p = 0.315) subgroups. Menarche occurred earlier in the PP group compared to the EP group (10.68 ± 1.22 vs. 11.12 ± 0.90 years, p = 0.005) and in the untreated compared to the treated group (10.31 ± 0.91 vs. 11.57 ± 0.06 years, p < 0.001 for EP, 11.53 ± 0.90 vs. 9.86 ± 0.86 years, p < 0.001 for PP). Predictors of final height were height at diagnosis (positively correlated), midparental height, and bone age at diagnosis (negatively correlated). Conclusions: There was no significant difference in final height between treated and untreated girls. Triptorelin was effective in delaying the onset of menarche. Factors contributing to a better final height in treated girls were higher height at baseline, lower midparental height, and younger bone age. Full article

The increased stress during the COVID-19 pandemic may have influenced the coping strategies used by children and parents who adapted to a diagnosis of central precocious puberty (CPP). This study aimed to explore whether the coping mechanisms of parents and their daughters diagnosed with CPP differed before and after the COVID-19 lockdown and if certain factors could be associated with these mechanisms. Specific questionnaires were completed by 174/524 girls with CPP enrolled at four different pediatric endocrinology centers in Italy. All girls filled in the questionnaire about the Children’s Coping Strategies (CCSs), and their parents completed the Coping Orientation to the Problems Experienced (COPE-NVI-25) questionnaire. Cronbach’s test was performed to check the reliability of answers. Despite increased stress-related coping behaviors among girls with CPP after the lockdown, parents presented more functional coping behaviors related to problem-solving strategies and seeking social support. After the lockdown, children showed stronger associations with their parents’ adaptive strategies, emphasizing the important role of parental behaviors in shaping the responses of children to stressful events. Additionally, coping strategies were found to differ by country of origin: families of non-Italian origin showed a greater reliance on transcendence, while girls from these families had lower avoidance scores, suggesting the use of alternative adaptive strategies in stressful situations. Full article

Precocious puberty, defined as the onset of secondary sexual characteristics before age 8 in girls, presents a diagnostic challenge in distinguishing between normal variants and pathological conditions requiring intervention. Central precocious puberty (CPP) results from early activation of the hypothalamic–pituitary–gonadal axis, whereas peripheral precocious puberty (PPP) arises from excess sex steroid production independent of gonadotropins. Benign variants, including premature thelarche and premature adrenarche, require careful differentiation to prevent unnecessary treatment. This review explores the physiological mechanisms governing puberty, the epidemiological trends influencing its early onset, and the genetic and environmental factors contributing to its variability in female children. A structured diagnostic approach incorporating clinical evaluation, hormone assessments, imaging studies, and genetic insights is discussed. Management strategies vary depending on the etiology, with gonadotropin-releasing hormone analogs recommended for CPP and targeted therapies for PPP. In contrast, benign variants often necessitate observation and periodic follow-up. Given the increasing prevalence of early puberty, further research is essential to refine diagnostic thresholds and optimize treatment protocols. Early and accurate identification of precocious puberty ensures appropriate intervention, mitigating potential risks associated with early maturation, including compromised adult height and psychosocial challenges. Full article

Introductions: Precocious puberty initiated at a very young age causes a severe loss in height potential and should be treated with gonadotropin-releasing hormone agonists (GnRHa). Controversial findings exist regarding the efficacy of GnRHa treatment in girls with central precocious puberty (CPP) onset around the age of 8. This research assessed the impact of GnRHa treatment on the final height (FAH) of 117 girls diagnosed with CPP within this age group. Methods: This retrospective study included 117 CPP girls diagnosed at around age 8 (7–9 years old). Girls who started treatment between the ages of 8 and 9 (n = 71) and 7 and 8 (n = 46) were divided into groups 1 and 2, respectively. Predicted height (PAH), target height (TH), and FAH were calculated from medical records. Girls’ PAH, TH, and FAH were also compared between groups. Results: At beginning of treatment, the girls’ average ages were 8.59 ± 0.27 in group 1 and 7.50 ± 0.47 in group 2. In groups 1 and 2, GnRHa therapy durations were 1.97 ± 0.54 and 2.91 ± 0.61, respectively. There were no significant differences in TH (160.53 ± 5.49 vs. 160.57 ± 4.94), PAH (158.72 ± 5.23 vs. 158.35 ± 5.57), and FAH (162.42 ± 5.32 vs. 162.14 ± 5.70) between groups. FAH improved 4 cm from PAH in both (p = 0.001). Multivariate linear regression analysis showed that baseline height SDS was the main FAH predictor (Beta: 0.572, p = 0.001). Conclusions: GnRHa may improve FAH even if the treatment is delayed after age 8. However, as this improvement is limited for this age group, the therapy option should be individualized and should not be considered for all children. Full article

Background: As the first approved GnRH agonist, leuprorelin is distinguished by its broad application in managing central precocious puberty (CPP). Despite the extensive use of leuprorelin in CPP management, uncertainties still persist regarding its long-term efficacy and safety. We conducted a systematic review and meta-analysis to assess the long-term efficacy and safety of leuprorelin treatment in children with CPP. Methods: We conducted electronic searches in PubMed, Embase, and the Cochrane Library up until 15 November 2023. All relevant studies concerning leuprorelin treatment in children with CPP were included. Results: The final adult height of children with CPP eventually reached the target height, with a significant difference of MD: 1.75 cm (95% CI: 0.46–3.03). The MD in BMI standard deviation score between baseline and post-leuprorelin treatment was −0.03 (95% CI: −0.28–0.22). For the onset of menstrual puberty, the MD between children with CPP who received leuprorelin treatment and those who did not was 0.73 years latency (95% CI: −0.74–2.20) without significant difference. The timing of menstrual puberty of the leuprorelin-treated group was 15.83 months (95% CI: 11.62–20.03) after the discontinuation of leuprorelin treatment. The proportion of menstrual regularity was 85% (95% CI: 75–91%), and the average incidence rate of polycystic ovary syndrome (PCOS) was 8% (95% CI: 3–22%) for children with CPP that treated with leuprorelin. Conclusions: Leuprorelin treatment does not affect BMI or the onset of menstrual puberty in the long term, but has positive effects on adult height for children with CPP. Moreover, no severe adverse events related to leuprorelin treatment were observed. Full article

Background: The rising prevalence of childhood obesity (CO) has been strongly linked to physical inactivity and sedentary behavior. Early development of functional movement skills (FMS) is crucial for fostering active lifestyles and preventing CO. Methods: We assessed the FMS of 102 children aged 3–5 using the MOBAK test battery. Parents completed a Likert-scale questionnaire evaluating their perception of their child’s motor competence. Results: A total of 102 children and 92 parents participated. Although 61.1% of children engaged in regular sports activities, only 20.5% reached a satisfactory MOBAK total score (Score 3). Significant gender differences emerged in locomotor skills (Score 2) and overall performance (Score 3), with p-values < 0.026 and <0.016, respectively. A significant negative correlation between BMI and Score 2 was observed (p < 0.030). Parents significantly overestimated their children’s FMS (p = 0.0001). Conclusions: Findings emphasize the importance of early interventions targeting FMS enhancement and parental education to effectively support CO prevention strategies and promote lifelong physical activity. Full article

Objectives: This study aimed to investigate changes in brain functional connectivity (FC) and topological structure in girls with idiopathic central precocious puberty (ICPP) using complex network theory analysis. Methods: Resting-state fMRI data from 53 ICPP girls (ages 6–8) and 51 controls were analysed. Graph theory was used to construct whole-brain functional networks, identify topological differences, and assess the relationship between sex hormone levels and network properties in regions with group differences. Results: RS-FC analysis revealed reduced connectivity in cognitive and emotional regulation regions in the ICPP group (p < 0.05), but enhanced connectivity in emotional perception and self-regulation areas, such as the amygdala and insula (p < 0.05), suggesting a compensatory mechanism. Graph theory showed that ICPP girls’ brain networks maintained small-world properties (γ > 1, λ ≈ 1, σ > 1). Local topological changes included decreased clustering and node efficiency in cognitive and emotional regulation regions, like the superior frontal gyrus and praecuneus (p < 0.05), while emotional regulation regions (amygdala, insula) showed increased clustering and node efficiency (p < 0.05), indicating compensation. Conclusions: This study highlights compensatory mechanisms in emotional regulation that may offset impairments in cognitive regions, offering new insights into ICPP’s neural mechanisms. Full article

Background/Objectives: The skeletal system reaches peak bone mass through modeling and remodeling processes, influenced by environmental, dietary, hormonal, and genetic factors. In children with endocrinopathies, disturbances in bone mass and mineralization may correlate with hormonal levels, but conditions like short stature or obesity can confound DXA results. This study aimed to assess the prevalence of decreased bone mineral density (BMD) in children with endocrine disorders and evaluate the impact of auxological and hormonal abnormalities on BMD. Methods: This study analyzed medical records of 148 children (mean age 11.85 ± 3.34 years); 73 girls and 75 boys). Conditions included obesity (22.9%), short stature (47.9%), precocious puberty (10.1%), and other diagnoses. Clinical data included primary diagnosis, height, body weight, pubertal stage, and serum concentrations of calcium, phosphate, alkaline phosphatase, 25OHD, PTH, osteocalcin, Crosslaps, TSH, fT4, IGF-1, IGF-BP3, cortisol, estradiol, testosterone, and bone age. DXA scans were performed at the total body less head (TBLH) and lumbar spine (Spine) projection. Results: Low bone mass (aBMD Z-score ≤ −2) was found in 34.46% at TBLH and 15.54% at the Spine. After height adjustment (HAZ adjustment), the prevalence of low bone mass decreased to 11.4% at TBLH and 4.1% at the Spine. In the short stature group, the normalization of Z-scores for height significantly reduced abnormal results. A positive correlation was found between DXA parameters and age, height standard deviation score (HSDS), BMI SDS, estradiol, testosterone, IGF-1, and IGF-BP3. A negative correlation existed between vitamin D and DXA parameters. Bone turnover markers (osteocalcin and Crosslaps) also negatively affected bone mass. No significant correlations were found with PTH, TSH, fT4, or cortisol. In children with growth retardation, lower aBMD_HAZ Z-scores were observed in those with decreased IGF-1. Positive correlations existed between BMI SDS, IGF-1, and adjusted aBMD Z-scores. Conclusions: Children with endocrine disorders, especially those with short stature, are at risk for bone mineralization disorders. Height normalization is crucial for accurate DXA interpretation and avoiding overdiagnosis. Positive influences on bone mass include height, BMI, IGF-1, estradiol, and testosterone, while negative factors include bone turnover markers and low vitamin D. Full article

Background: Previously reported STAG1 gene-related cohesinopathies describe a range of clinical features, typically including intellectual disability (ID), facial dysmorphisms, and limb anomalies. Case presentation: We present the case of an 8-year-old girl with main findings including ID, central precocious puberty (CPP), and bone fragility. Panel genetic testing revealed a pathogenic STAG1 variant, NM_005862.3:c.2116del p.(Asp706Ilefs*15), which can only partially explain the clinical phenotype. Reports of STAG1-related cohesinopathies, including ours, have consistently described developmental and intellectual disabilities. In our case, the etiology of CPP and bone fragility remains unexplained. We discuss the challenges and limitations of current molecular tools in assessing cases with overlapping, apparently unlinked phenotypes, while speculating whether the common occurrence could be explained by STAG1 instead. Conclusions: The clinical spectrum of cohesinopathies is still poorly understood. Complex phenotypes with apparently unrelated clinical features warrant further careful investigation and illustrate the challenges of molecular diagnosis. Full article

Background/aim: A growing body of evidence suggests a link between dyslipidemias and neurodegenerative diseases, highlighting the crucial role of lipid metabolism in the health of the central nervous system. The aim of our work was to provide an update on this topic, with a focus on clinical practice from an endocrinological point of view. Endocrinologists, being experts in the management of dyslipidemias, can play a key role in the prevention and treatment of neurodegenerative conditions, through precocious and effective lipid profile optimization. Methods: The literature was scanned to identify clinical trials and correlation studies on the association between dyslipidemia, statin therapy, and the following neurodegenerative diseases: Alzheimer’s disease (AD), Parkisons’s disease (PD), Multiple sclerosis (MS), and Amyotrophic lateral sclerosis (ALS). Results: Impaired lipid homeostasis, such as that frequently observed in patients affected by obesity and diabetes, is related to neurodegenerative diseases, such as AD, PD, and other cognitive deficits related to aging. AD and related dementias are now a real priority health problem. In the United States, there are approximately 7 million subjects aged 65 and older living with AD and related dementias, and this number is projected to grow to 12 million in the coming decades. Lipid-lowering therapy with statins is an effective strategy in reducing serum low-density lipoprotein cholesterol to normal range concentrations and, therefore, cardiovascular disease risk; moreover, statins have been reported to have a positive effect on neurodegenerative diseases. Conclusions: Several pieces of research have found inconsistent information following our review. There was no association between statin use and ALS incidence. More positive evidence has emerged regarding statin use and AD/PD. However, further large-scale prospective randomized control trials are required to properly understand this issue. Full article