Pediatric Endocrinology, Diabetes and Metabolism最新文献

Introduction: The aim of the study is to analyze patients who do not respond adequately to human recombinant growth hormone (rhGH) treatment.

Material and methods: Four boys were analyzed: three patients diagnosed with SNP at the ages of 1) 8 years and 2 months, 2) 13 years and 2 months, 3) 16 years and 6 months, and patient 4) at the age of 6 years and 11 months - born small for gestational age (SGA). They underwent rhGH treatment.

Results: The expected growth improvement was not observed in all boys. Patient 1 was diagnosed with aortic coarctation, and after each attempt to increase the rhGH dose, nocturnal vomiting occurred - epilepsy was diagnosed. Patient 2 had severe foot pain. Patient 3 had delayed puberty - hypogonadotropic hypogonadism was diagnosed. Patient 4 had dysmorphic features. Genetic tests revealed the following: 1) mixed gonadal dysgenesis - modifying treatment; 2) Fabry disease - enzyme treatment and rhGH improved growth; 3) Kallmann syndrome - discontinuing rhGH for testosterone supplementation; 4) KBG syndrome.

Conclusions: 1. The presence of dysmorphic features and symptoms atypical for growth hormone deficiencies could warrant genetic diagnostics before initiating treatment. 2. Lack of significant improvement in growth is an indication for reevaluation of patients who have not completed growth. 3. Genetic studies in this patient group often elucidate the causes of slow growth rate. 4. The case authors have developed a proposal for a multicentre program aimed at establishing indications for genetic diagnosis in children diagnosed with SNP and SGA treated with rhGH.

The partial clinical recovery phase (PCRP), or "honeymoon period", is a temporary and partial restoration of b-cell function in patients with type 1 diabetes mellitus (T1DM), in which the immune system attacks and destroys insulin-producing b-cells. The underlying causes of PCRP are not fully understood, but they are believed to involve a combination of genetic and environmental factors. Recent research has suggested a potential link between a specific allele of the prostaglandin receptor EP4 (PTGER4) and the modulation of remission in individuals with T1DM. This review aims to provide an overview of current scientific findings on the biological functions and role of the EP4 receptor in T1DM, with a particular focus on its involvement in the PCR phase. It provides a comprehensive understanding of the mechanisms underlying PCRP, which can lead to the development of more effective treatment strategies for preserving b-cell function and prolonging the PCRP. The identification of specific biomarkers associated with the PCRP and the EP4 receptor enables early identification of individuals at lower risk of long-term complications, facilitating targeted interventions and personalised treatment approaches.

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.

Nowadays, continuous glycaemic monitoring systems are used primarily for diabetic patients. The most popular continuous glycaemic monitoring (CGMs) measure the glucose concentration in the interstitial fluid every 1 or 5 minutes, providing the patient with 288 or 1,440 measurements in a day. CGM is also useful for observing sudden changes in glycaemia after the introduction of dietary interventions and those related to physical activity. Peri-prandial glycaemia is defined as the change in blood glucose levels depending on the carbohydrate-containing meal consumed. A state of peri-prandial hyperglycaemia begins when blood glucose levels rise above the level of 140 mg/dl (7.8 mmol/l) within 1-2 hours after food intake in healthy people without diabetes. The influence of the peri-prandial glycaemic response is briefly related to the amount and type of food consumed. Optimising the glycaemic profile is important for our health. The purpose of this article is to summarise the current knowledge of the effects of various meals on peri-prandial glycaemia in healthy individuals.

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.