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Introduction: Hypoplastic left heart syndrome (HLHS) is among the most severe and complex forms of congenital heart disease. Despite advances in medical and surgical management, patients with HLHS remain at risk for numerous short- and long-term complications, including growth impairment. The aim of this study is to evaluate the effectiveness and safety of recombinant human growth hormone (rhGH) therapy in patients with HLHS and either growth hormone deficiency (GHD) or small for gestational age (SGA) status, treated at a single tertiary pediatric endocrinology center.
Material and methods: We retrospectively studied eight male patients with HLHS and short stature. Patients were qualified for rhGH therapy in accordance with the guidelines of the Polish rhGH treatment program dedicated to children with short stature and GHD or SGA. Five patients with GHD were qualified for rhGH therapy. The median age of the patients was 14.4 years, and the median height standard deviation score (SDS) was -5.82. Patients who did not initiate rhGH therapy had a median age of 13.8 years and a median height SDS of -3.97. To evaluate the effectiveness of rhGH therapy, we assessed patients' height SDS, bone age, and serum insulin-like growth factor 1 (IGF-1) concentrations at baseline (prior to treatment initiation), approximately one year after the start of therapy, and annually thereafter.
Results: During rhGH therapy, the mean height SDS improved from -5.82 to -5.38 at the first follow-up after a mean duration of 1.1 years. Ultimately, the mean height SDS further improved to -4.92 after an average of 2.5 years of treatment. In contrast, patients who did not receive rhGH therapy showed no improvement; their mean height SDS declined from -3.79 to -4.15 over an observation period of 8 to 16 months.
Conclusion: Growth failure in patients with HLHS is likely multifactorial in origin, extending beyond the cardiac defect and its treatment. Short stature in this population warrants thorough evaluation, and in cases of confirmed GHD, rhGH therapy should be considered when feasible. Treatment decisions must be individualized, considering the patient's overall clinical condition and coexisting comorbidities.
Introduction: Polycystic ovary syndrome (PCOS) is characterized by ovulation disturbance, hyperandrogenemia, and polycystic ovary, causing infertility. There is a lack of unified conclusions on the pathogenesis of PCOS, resulting in challenges in the clinical management. This study evaluated the potential of miR-1271-5p in diagnosing PCOS and its regulatory effect on granulosa cells, aiming to explore a potential therapeutic target for PCOS.
Material and methods: This study enrolled 189 PCOS patients with 107 healthy women as the control group. Serum miR-1271-5p was assessed by quantitative polymerase chain reaction (qPCR), and its clinical significance was evaluated from the perspectives of diagnosis and correlation with clinical symptoms. In vitro, the regulatory effects of miR-1271-5p on granulosa cell injury (KGN cell induced by lipopolysaccharide, LPS) were evaluated from the perspectives of cell growth, apoptosis, oxidative stress, and inflammation. The regulatory mechanism was estimated through the target prediction.
Results: miR-1271-5p was upregulated in PCOS, discriminating PCOS patients and correlated with obesity, insulin resistance, and hormone disturbance of PCOS patients. miR-1271-5p, and insulin resistance- and hormone-related features, was identified as risk factors for PCOS. In KGN cells, miR-1271-5p targeted PRKAR1A and negatively regulated its expression. Silencing miR-1271-5p could alleviate LPS-induced cell injury, including reduced cell viability, oxidative stress, and inflammation. Knocking down PRKAR1A could reverse the protective effects of miR-1271-5p on KGN cells.
Conclusions: miR-1271-5p served as a biomarker for PCOS, predicting disease risk and diagnosing disease onset. The miR-1271-5p/PRKAR1A axis regulated granulosa cell injury under LPS, which can be considered a potential therapeutic target for PCOS.
Introduction: Type 2 diabetes mellitus (T2DM) with secondary cerebral infarction often leads to cognitive dysfunction (CD), impacting patients' quality of life and prognosis. The aim of the study was to explore factors influencing CD in T2DM patients with cerebral infarction and develop a prediction model.
Material and methods: This was a retrospective analysis of 244 T2DM patients with cerebral infarction treated from January 2020 to December 2023. Patients were split into a training set (n = 170) and a test set (n = 74). Logistic regression and random forest models were developed using RStudio.
Results: Logistic regression analysis indicated that age, 25-hydroxyvitamin D [25(OH)D], and triglyceride (TG) were independent influencing factors for CD in patients. In the random forest model, the variables were prioritized based on their importance, with 25(OH)D ranked highest, followed by age, TG, National Institute of Health stroke scale (NIHSS) score, duration of T2DM, and diabetic neuropathy. The area under the receiver operating characteristic curve (AUC) for the Logistic model was 0.799 in the training set and 0.793 in the test set, while the AUC values for the random forest model were recorded at 0.875 and 0.804, respectively. The predicted probabilities of both models in the training and test sets aligned well with the actual incidence of CD.
Conclusion: Age, 25(OH)D, and TG are key factors for CD in T2DM patients with cerebral infarction. The random forest model showed superior predictive performance, making it a promising tool for clinical use.
Introduction: The prevalence of obesity worldwide has rapidly increased. One of the methods for treating obesity is endoscopic intragastric balloon (IGB) implantation. The aim of this study was to evaluate the effects of carbohydrate homeostasis and select cytokines in obese patients with a body mass index (BMI) ≥ 40 kg/m².
Material and methods: We analysed 68 obese subjects who underwent IGB. There were 19 females and 49 males in the study, their ages ranged from 23-65 years, their weights were 169.04 ± 33 kg, and their BMIs were 54.81 ± 7.8 kg/m². We measured carbohydrate parameters, including glucose, insulin and Homeostatic Model Assessment - Insulin Resistance (HOMA-IR), and cytokines, such as growth differentiation factor 15 (GDF15), human zinc-alpha-2-glycoprotein (ZAGa2), tumour necrosis factor alpha (TNF-α), and tumour necrosis factor weak inducer of apoptosis (TNFSF12/TWEAK). All parameters were measured before and at 6 months after the IGB was removed.
Results: Anthropometric parameters and carbohydrate homeostasis significantly changed 6 months after IGB implantation. We found significant decreases in body weight (p < 0.0001), BMI (p < 0.0001), glucose levels (p < 0.0001), insulin concentration (p < 0.0001), and HOMA-IR (p < 0.0001), regardless of sex. After 6 months, GDF15 (p < 0.0001), ZAGa2 (p < 0.0001) and TNFα (p < 0.0001) levels decreased. In contrast, the TNFSF12/TWEAK concentration increased (p < 0.0001). There was no difference between women and men in any of the parameters.
Conclusions: The results of this study indicate that IGB-induced weight loss leads to the normalization of metabolic parameters and inflammatory cytokines in obese individuals, regardless of sex.
Rickets is a disease of the growing skeleton resulting from impaired hypertrophic chondrocyte apoptosis and growth plate mineralization. According to the present data on children with nutritional rickets, there are three stages of biochemical findings. Using these biochemical findings, we aimed to update the stages of nutritional rickets in this review.
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Introduction: The association between insulin resistance and lipid metabolism in acute ischemic stroke (AIS) remains unclear. To explore their relationship and elucidate potential biomarkers for stroke management, we investigated the association between the triglyceride-glucose index (TyG index) and remnant cholesterol (RC) in patients with AIS.
Material and methods: A total of 116 patients diagnosed with acute ischemic stroke (AIS) and admitted to the Xiong'an New District Rongcheng People's Hospital between December 2022 and June 2023 were randomly chosen for this study. Patients were categorized into three groups based on either the TyG index or RC tertiles. To assess the association between the TyG index and RC, Spearman's rank correlation analysis was conducted. Additionally, ANOVA was utilized to compare the levels of RC across different TyG index tertiles. To determine if RC could serve as a potential explanatory variable of the TyG index and vice versa, multiple linear regression analysis was employed. Furthermore, ordinal logistic regression analysis was carried out to explore the relationships among the TyG index, RC, and AIS severity.
Results: Spearman's rank correlation analysis showed that the TyG index was positively correlated with RC (r = 0.645, p < 0.0001). Multiple linear regression analysis showed that RC was associated with the TyG index (β = 0.695, p < 0.001) and vice versa (β = 0.212,p = 0.008). Ordinal logistic regression analysis indicated that RC was positively associated with AIS severity (estimate = 0.713, p = 0.038).
Conclusions: There is a strong correlation between the TyG index and RC in patients with AIS. In addition, RC was positively associated with the severity of AIS. The results of this study may promote a more comprehensive understanding of the association between insulin resistance and lipid metabolism in AIS.
Introduction: The authors of the latest recommendations state that osteoporosis diagnosis should not rely solely on densitometric (DXA) criteria. Fracture risk assessment is crucial for determining diagnosis and intervention thresholds. Comprehensive assessment of fracture risk requires consideration of bone mineral density (BMD) results, use of risk calculators like Fracture Risk Assessment Tool (FRAXTM), and analysis of clinical and lifestyle factors. Experts highlight the need to identify patients at very high fracture risk to justify starting anabolic therapy. This retrospective study assessed fracture risk in newly diagnosed osteoporosis patients, identifying those at high and very high risk.
Material and methods: The study included 159 postmenopausal women with newly diagnosed osteoporosis, identified by a T-score of ≤ -2.5 standard deviations (SD) from DXA scans of the femoral neck and/or lumbar spine. Demographic data and laboratory tests were collected, and the 10-year fracture risk for major osteoporotic fractures (FRAX MOF) and hip fractures (FRAX HF) was calculated using the FRAX-PL calculator, which included femoral neck BMD. Each patient was then classified into a risk group based on modified fracture risk assessment criteria.
Results: The study found that the most common risk factor for osteoporosis was a previous fracture (56.6%). Other common risk factors included smoking (21.38%), parental hip fracture (13.21%), and glucocorticoid use (10.70%). The FRAX calculator showed that 47.80% of patients were at very high risk for HF and 23.90% for MOF. A high HF risk was present in 10.06% of patients, and high MOF risk in 34.59%, whereas a medium and low MOF risk concerned 25.79% and 15.72% of the subjects, respectively. With expanded criteria, 72.33% of patients were classified at very high risk, compared to 23.90% for MOF and 47.80% for HF based solely on FRAX. Most patients met the T-score ≤ -3.0 SD criterion (52.20%) and FRAX > 15% for MOF or FRAX > 4.5% for HF (52.20%). Women aged 65-70 and 70-75 years are at the highest risk and qualify for anabolic therapy.
Conclusions: Our study highlights the importance of stratifying patients by fracture risk, showing that more individuals are identified at very high risk when using the expanded assessment criteria from the latest Polish guidelines.

