Pediatric Endocrinology, Diabetes and Metabolism最新文献

Introduction: Osteogenesis imperfecta (OI), a rare condition, profoundly impacts a child's life. It leads to mobility issues, deformities from frequent fractures, psychosocial and mental-emotional issues, and, indirectly, financial problems that can compromise quality of life (QoL). Clinical severity, classified as mild-moderate or severe, is linked to the overall disease burden.

Aim of the study: The objective of the study was to determine how QoL in OI patients is associated with physical, mental-emotional, psychosocial, and socioeconomic problems.

Material and methods: We conducted a cross-sectional study using questionnaires (PEDS QL 4.0 for QoL, SDQ for mental-emotional problems, PSC-17 for psychosocial problems, and World Bank for assessing financial problems) on OI patients aged 4-18 years in Jakarta, Indonesia. Both parents and patients filled out the questionnaires.

Results: Fifty subjects participated in this study. Parent-reported QoL was associated with the severity of disease (PR = 3.429, p = 0.029) and there was an association of patient-reported QoL with compliance to bisphosphonate therapy (PR = 3.167, p = 0.043) and short stature (PR = 3.36, p = 0.014). Both parent- and patient-reported QoL were strongly associated with the physical and psychosocial problems domain of the PEDS QL 4.0 (p < 0.001).

Conclusions: Evaluating OI patients should prioritise QoL because more severe OI is associated with more severe QoL problems. No evidence of association was found between OI disease severity and family income.

Introduction: The OPG/RANKL ratio is an important determinant of bone mass and skeletal integrity, and it is also crucial in the pathogenesis of bone diseases. So far, few studies have been conducted to determine the reference values of OPG and RANKL in developmental age.

Aim of the study: The aim of the study was to determine the reference values of OPG, sRANKL concentrations and the OPG/RANKL ratio in healthy children, as well as to assess the impact of selected demographic factors and biological development on their concentrations.

Material and methods: Data obtained from medical records of 56 healthy patients aged 1-18 years were analyzed. Anthropometric measurements were analyzed for each child and the stage of puberty was assessed using the standard Tanner scale criteria. OPG and sRANKL levels were determined by ELISA with kits from Biomedica. The osteoprotegerin bioactivity index (OPG/RANKL ratio) was calculated for each patient by dividing OPG values by sRANKL (OPG/RANKL ratio).

Results: In the studied population of healthy children and adolescents, the OPG serum concentration reference value was established at 3.15-4.90 pmol/l, sRANKL at 0.20-0.60 pmol/l, and the OPG/RANKL ratio at 7.40-20.00. Serum OPG, sRANKL and OPG/RANKL levels did not change significantly with gender, BMI and Tanner stage of puberty. A statistically significant negative correlation was found between age and OPG levels (r = -0.32, p = 0.0168) and OPG/RANKL ratio (r = -0.34, p = 0.0228).

Conclusions: In healthy children and adolescents, OPG levels decrease with age, but the influence of puberty and body weight on OPG and sRANKL levels requires further investigation.

Childhood obesity is a major complex and multifaceted public health challenge with significant short- and long-term health consequences. It is also associated with a significant reduction in quality of life and poorer mental health outcomes. In general, obesity occurs when energy intake exceeds energy expenditure. In children, however, the former can be interpreted as when a child has a body mass index (BMI) at or above the 95th percentile for children of the same age, sex, and ethnicity on growth charts. Obesity in children is influenced by a complex interplay of genetic, environmental, socio-economic, and behavioural factors. The relationship between a child's behaviour and childhood obesity is multifaceted and influenced by various factors, including dietary habits, physical activity levels, sedentary behaviours, family dynamics, socio-economic status, and environmental factors. Effective strategies for preventing and managing childhood obesity require a comprehensive, multi-sectoral approach that addresses individual, family, community, and educational institutes. Thus, addressing childhood obesity requires a comprehensive approach that addresses not only biological and environmental factors but also behavioural factors that influence children's eating behaviours, physical activity levels, sleep patterns, and emotional well-being. Early intervention and ongoing support are crucial for promoting healthy growth and development and reducing the burden of childhood obesity on individuals, families, and societies. This review discusses factors that influence the child's behaviour and the relationship between the child's behaviour and childhood obesity.

Introduction: For 35 years, recombinant human growth hormone (rhGH) has been successfully used worldwide to treat children with short stature related to growth hormone deficiency (GHD). Growth hormone therapy requires an individual approach to the patient due to varying responses to the treatment. Excessive body weight is one of the factors influencing the response.

Aim of the study: To evaluate the impact of excessive body mass on rhGH therapy effectiveness in GHD children.

Material and methods: 165 short-statured children with isolated GHD (mean age 10.72 ±3.33 years), treated with rhGH for at least one year (mean follow-up 4.32 ±1.80 years), were separated into 3 groups based on their BMI standard deviation score (SDS). Bone age, height, weight, insulin-like growth factor 1 level, and rhGH dose were obtained up to 10 years with one-year intervals.

Results: The mean change in height SDS in the first year was 0.52 ±0.41 SD and 0.60 ±0.32 SD for normal and excessive body weight children, respectively. The mean height velocity, based on the height SDS measured over the consecutive 5 years, was 0.44±0.25 SD/year for the normal-weight group and 0.32 ±0.24 SD/year for the excessive body weight group (p < 0.1).

Conclusions: Excess body weight has a significant impact on rhGH therapy outcomes. This correlates with the height increase in the first year of observation; however, long-term observation has shown that children diagnosed with overweight or obesity achieve significantly worse results compared to their normal-weight peers.

Introduction: To investigate the hypothesis that the presence of prenatal maternal stress, increased level of prenatal testosterone, and low level of vitamin D3 in pregnancy is associated with the development of ADHD-like symptoms in toddlers (< 2 years old).

Material and methods: The study group comprised 53 pregnant women and 53 infants of these pregnancies. The population cohort of 53 pregnant women were recruited at their 35th to 37th week of pregnancy and investigated prospectively. The participants were selected through targeted selection. Maternal experience of stressful life events was assessed by stress standardised questionnaires, prenatal testosterone was determined in the mothers' saliva by using the immune enzymatic (ELISA) method, and maternal plasma D vitamin was measured using the ECLIA method, during pregnancy. When the age of the offspring was 6 months and then less than 2 years, the mothers completed the child behaviour and temperament checklist.

Results: A small but statistically significant association was found between the common symptom complex of ADHD and the level of testosterone and vitamin D3, in the presence of prenatal maternal stress. Multiple regression analysis showed that maternal stressful events during pregnancy significantly predicted ADHD behaviours in offspring.

Conclusions: The study supported the hypothesis that prenatal maternal stress, increased level of prenatal testosterone, and low level of vitamin D3 during pregnancy increases the risk of development of ADHD-like symptoms in toddlers (< 2 years old). Also, the obtained results support the hypothesis that the influence of prenatal factors causes ADHD-like symptoms in offspring through a programming effect.

Introduction: Precocious puberty is a pathology whose primary aetiology is still unknown; research and approach topics could guide physicians and academics to develop investigations towards knowledge trends.

Aim of the study: The objective of this study was to perform a cienciometric analysis using the Web of Science platform during the period 2000-2023 regarding precocious puberty worldwide.

Material and methods: A search formula was devised to capture documents on the Web of Science platform, including original studies, consensus, and reviews for analysis. Information on journals and documents was also manually collected by extracting data on the journal quartile or open access to the document.

Results: A total of 3,556 documents were analysed; the research trend during the study period showed steady growth, with the United States being the most prolific country. The People's Republic of China had significant growth, particularly in the last 10 years of analysis. Emerging topics since 2020 were "COVID-19", "dlk1", and "mkrn3". The most cited article is a narrative review with 1,038 citations at the time of the search and is open access article.

Conclusions: Research on precocious puberty shows growth during the study period, with new research topics that can guide physicians and researchers in the direction of their future studies. A bibliometric analysis on more specific aspects of precocious puberty could provide better guidance to researchers.

Hypoglycemic encephalopathy (HE) is a type of encephalopathy resulting from extremely low blood glucose level. Symptoms are not specific and can be misdiagnosed very often. It can occur during deep and/or prolonged hypoglycemia, which may be a result of inadequately controlled diabetes. Here, we report a case of an 11-year old male patient diagnosed with type 1 diabetes mellitus treated with the use of insulin pump who was admitted to the Pediatric Neurology Department because of multiple incidents of seizures. Boy was found unconscious by his mother. The blood glucose level on the glucometer was 35 mg/dl. It turned out that the reason of hypoglycemia was inadequate insulin dosing. He was given intravenous glucose by the ambulance service without improvement in the state of consciousness. Brain MRI revealed in both cerebral hemispheres, symmetrically, elevated white matter signal, mainly in the subcortex and cortex of the frontal and occipital and parietal lobes with features of diffusion restriction. EEG revealed generalized slow brain activity, without obvious epileptiform. Boy was provided with a variety of antiepileptic drugs. Unfortunately, none of them yielded with satisfactory results so far and the patient is still suffering from drug-resistant epilepsy. In conclusion, glucose is one of the key metabolic agents for the proper brain function and any imbalances in its blood level may impair the neuronal computation. Thus, it is extremely important, especially among diabetic patients, to control glucose blood level and avoid any disturbances, as they may lead to severe consequences, such as HE and drug-resistant epilepsy.

The clinical onset of type 1 diabetes (namely stage 3 type 1 diabetes [T1D]) is preceded by a relatively prolonged pre-symptomatic phase featured by islet autoimmunity [1] with (Stage 2 T1D) or without (Stage 1 T1D) dysglycaemia. While islet autoimmunity is the hallmark of the underlying autoimmune process, very little evidence is available for the metabolic changes that accompany the loss of functional beta cell mass. Indeed, a steep decline of C-peptide - a surrogate marker of beta cell function - is measurable only ~6 months before the onset of Stage 3 T1D [2]. Disease modifier drugs have, there-fore, a very limited window of intervention because we lack of effective methods to track beta cell function over time and to identify early changes of insulin secretion that precedes dysglycaemia [3, 4] and clinically symptomatic diabetes. Herein, we will revise current approaches to longitudinally track beta cell function over time before the onset of Stage 3 T1D, which might be suitable for monitoring the risk for diabetes progression as well as the effectiveness of disease modifier treatments.