Pediatric Endocrinology, Diabetes and Metabolism最新文献

Objectives: To describe medullary thyroid cancer (MTC) onset in a boy affected previously by Langerhans cell histiocytosis (LCH) and review the literature for other reports of this association.

Case presentation: A 6-year-old boy was treated for LCH diagnosis when he was 4 years old. After treatment, a rise in procalcitonin levels was observed (2.36-2.78 ng/ml) initially interpreted as inflammatory response. Further procalcitonin increase (4.61 ng/ml) with cervical lymphadenopathy and no infective focus was suspicious of thyroid involvement, confirmed by ultrasound, serum calcitonin, and cytological diagnosis. Total thyroidectomy with bilateral lymph node exeresis was performed. RET gene analysis revealed p.Met918Thr mutation. No association between the previous LCH and MTC had been identified to date.

Conclusions: MTC is a rare condition in childhood presenting with an aggressive behaviour. It becomes crucial to increase the awareness of its features and anticipate diagnosis. Therefore, persistent high levels of pro-calcitonin without infective/inflammatory focus should lead to suspicion of thyroid involvement.

Introduction: Tyrosinaemia type I is a rare hereditary metabolic disease caused by deficiency of the enzyme involved in the breakdown of tyrosine. Since the use of nitisinone in addition to diet in 1992, survival rates have increased significantly, but more and more socio-emotional problems have become apparent. The aim of the study was the assessment the relationship between variations in serum tyrosine and phenylalanine levels and measurements of socio-emotional functioning and determination of patients' IQs.

The aim of the study: was the assessment the relationship between variations in serum tyrosine and phenylalanine levels and measurements of socio-emotional functioning and determination of patients' IQs.

Material and methods: Twelve children were studied, from a single centre, born between 1994 and 2012, treated with nitisinone and a low-phenylalanine and -tyrosine diet. The psychological evaluation was conducted using the parent form of the Child Behaviour Checklist (CBCL)/4-18. Additionally, the patients' IQs were measured using the Stanford-Binet 5 (SB5) Intelligence Scale. Statistical analyses were performed using PAWS software suite version 26. We found that phenylalanine variability over time correlated with measures of emotional and behavioural functioning. This relationship holds true for externalising behaviour, associated with the experience of maladjustment and aggression. Total score intellectual and cognitive function was within the norm for all patients.

Conclusions: To maintain better quality of life for patients and their families in terms of emotional and behavioural functioning, it may be important to avoid spikes (significant fluctuations) in phenylalanine levels. Regular, detailed psychological evaluations are recommended to detect potential problems and implement interventions aimed at achieving the best possible individual development and realise the intellectual and behavioural potential, thereby improving the patient's and her family's quality of life.

Introduction: Type 1 diabetes mellitus (T1DM) is a health problem that can be difficult for young people to accept. The aim of this study is to determine the prevalence and characteristics of school failure in children with T1DM and to identify the associated factors.

Material and methods: This is a retrospective study conducted in the endocrinology department of the Farhat Hached Hospital in Sousse, regarding T1DM patients, by analysing their school and career paths according to their clinicobiological and social data. School failure was defined in our study by the presence of at least one year's repetition and/or exclusion from school.

Results: Our study included 70 patients. School failure was recorded in 71.4% of cases. School drop-out was observed in 47.1% of patients. The reasons for school drop-out were iterative hospitalizations in 31.4% of cases and glycaemic instability with hyper/hypoglycaemic fluctuations in 17.1%. Multivariate analysis showed that the risk factors significantly associated with school failure were, respectively, number of hospitalizations for ketosis ≥ 5 (p = 0.037) and higher mean HbA1c at the last consultations (p = 0.001). Use of functional insulin therapy (p = 0.031) and use of insulin analogue (p = 0.004) were significantly protective factors.

Conclusions: The risk of school failure in T1DM is real and should not be underestimated. Socioeconomic factors such as lack of financial resources, limited family support, and an unfavourable social environment can contribute to school avoidance.

Introduction: Real-time continuous glucose monitoring (rtCGM) has become an integral component of modern diabetes management. However, sensor performance data of adolescents, especially during exercise, are scarce. Therefore, this investigation aimed to determine the performance of a rtCGM-system before, during, and after exercise around a 4-week track and field training intervention in adolescents with type 1 diabetes (T1D).

Material and methods: Eight adolescents (2 females, 15.5 ±1.0 years, BMI: 21.0 ±2.3 kg/m2) with T1D and an HbA1c of 7.0 ±0.6% (53.0 ±6.6 mmol/mol) participated in a 4-week track and field intervention consisting of three 60-minute exercise sessions per week. Sensor glucose levels (Dexcom G6; Dexcom Inc., San Diego, CA) were obtained at rest and after 15, 30, 45, and 60 minutes during, as well as 5 minutes after exercise and compared to a reference capillary blood glucose value (Biosen S-Line, EKF Diagnostics, GER). rtCGM performance was assessed using the median absolute relative difference (MedARD) and interquartile range [IQR] as well as the Bland-Altman method.

Results: 443 points of comparison were available for analysis. The overall MedARD (IQR) was 19.1% (12.2-27.3). MedARDs for time in range (70-180 mg/dl), below range ( 180 mg/dl) were 22.0% (17.8-29.2), 28.4% (18.8-36.3), and 15.9% (9.4-20.7), respectively. The in-exercise MedARD was 19.4% (12.3-27.8), and pre- and post-exercise MedARDs were 21.6% (14.5-28.3) and 14.9% (9.0-21.6), respectively.

Conclusions: In structured track and field training involving adolescents with T1D, the accuracy of the Dexcom G6 system is limited. This supports the importance of considering glucose trend arrows and, when in doubt, blood measurements during exercise.

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.

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.

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.