Pediatric Endocrinology, Diabetes and Metabolism最新文献

Introduction: Diagnosis of growth hormone (GH) deficiency (GHD) requires confirmation by decreased GH peak in stimulation test (GHST). Despite physiological changes in GH secretion, the same cut-off for GH peak in different GHST is recommended throughout childhood. There are also reports indicating a high rate of false positive GHST results. The aim of the study was to identify auxological parameters relevant for the diagnosis of GHD based on the results of GHST in children with short stature.

Material and methods: Analysis included 1,592 children with short stature, in whom height, weight, body mass index (BMI), GH peak in two GHST and bone age (BA) were assessed. Diagnosis of GHD was based on GH peak in two GHST below 10.0 µg/l, otherwise the diagnosis was idiopathic short stature (ISS).

Results: Growth hormone deficiency was diagnosed in 604 patients (37.9%). There was no difference between GHD and ISS Groups in age, height and BA, while children with GHD had significantly lower (p < 0.001) BMI. The incidence of GHD depended on age, BA, height and BMI. After classifying the patients with respect to nutritional status (BMI SDS), GH peak was the lowest in children with overnutrition, while the highest in ones with undernutrition.

Conclusions: The assumption of the same cut-off value of GH peak for all GHST performed in children should be modified. Interpretation of GHST should be personalized.

Introduction: Ring chromosome 18 is a rare chromosomal disorder, and its association with Prader-Willi syndrome (PWS) is an extremely unusual condition. We described the clinical and biological profile of this association and highlighted the management of this case through GH therapy. To the best of our knowledge, this is the first reported association in the literature.

Case presentation: This report discusses a case of a 9-year-old child diagnosed with both PWS and ring 18 syndrome at the age of 3 years. The diagnosis of Prader-Willi syndrome with ring chromosome 18 was established using CGH ARRAY technique. It showed the absence of expression of paternal chromosome 15 in the 15q11-q13 region, and a karyotype showing ring chromosome 18 according to the formula: 46. XX (37)/46. XX r(18) (p11.3 ;q23) (27).

Conclusions: Our case contributes to a better understanding of the clinical presentation of complex aberrations of chromosome 18 and that of PWS. The main common clinical features of this association were a moderate dysmorphic syndrome, hypotonia, grade II obesity with severe OSA, mild cognitive deficit with learning difficulties, and a discreet scoliosis. Diagnosis and management of this complex disorder require a multidisciplinary approach. The primary focus for those patients is to enhance their quality of life and prevent any potential complications.

Introduction: Excess body weight has a negative impact on the management of type 1 diabetes (T1D) and is an additional risk factor for the development of chronic vascular complications, insulin resistance and metabolic dysfunction-associated fatty liver disease (MAFLD). We compared and analyzed metabolic control, the incidence of insulin resistance and MAFLD in children and youths with T1D and excessive body weight (T1D-E) and those with T1D and normal body weight (T1D-N).

Material and methods: The study included 32 patients with T1D-N and 31 patients with T1D-E. Daily insulin requirement, estimated glucose disposal rate (eGDR1, eGDR2), HbA1C%, lipid profile, vitamin D level, cIMT value, and MAFLD prevalence were compared in relation to body mass index (BMI) and BMI SD score (BMI-SDS).

Results: T1D-E patients compared to T1D-N had higher systolic (125.58 ±8.18 vs. 120.16 ±10.02 mmHg, p = 0.022) and diastolic blood pressure (78.19 ±7.03 vs. 73.94 ±7.95 mmHg, p = 0.028), triglyceride levels (118.19 ±71.20 vs. 71.31 ±18.76 mg/dl, p = 0.001) and waist circumference (p < 0.001). Lower eGDR values were noted in T1D-E vs. T1D-N: eGDR1: 5.16 ±1.33 vs. 6.96 ±1.32; eGDR2: 9.37 ±1.21 vs. 10.66 ±0.9 (p = 0.0001, p = 0.0001). Vitamin D levels were lower and the incidence of MAFLD was higher in the T1D-E group (13% vs. 0%, p = 0.014). Patients with MAFLD had worse lipid profile results and higher cIMT values (0.48 vs. 0.43 mm, p = 0.4).

Conclusions: Excessive body weight in patients with T1D leads to elevated blood pressure, dyslipidemia, and insulin resistance, and increases the risk of MAFLD. Patients with MAFLD have a higher future cardiovascular risk, expressed as an increased cIMT value.

Introduction: Type 2 diabetes mellitus (T2DM) is a metabolic disorder marked by hyperglycemia due to impaired carbohydrate metabolism. GLUT-2 , a key glucose transporter, regulates glucose homeostasis and insulin secretion. Medicinal plants, such as fig leaves ( Ficus carica L .), have shown potential as antidiabetic agents.

Aim of the study: To evaluate the effect of fig leaf extract on GLUT-2 expression in pancreatic β and hepatic cells, as well as fasting blood glucose (FBG) levels in Wistar rats induced with streptozotocin and nicotinamide (STZ-NA).

Material and methods: Thirty-six male Wistar rats were divided into six groups. Treatment groups received fig leaf extract at doses of 300, 500, and 700 mg/kg body weight for a period of two weeks. A glimepiride-treated group served as the positive control. Fasting blood glucose levels were measured before and after treatment. GLUT-2 expression was assessed using ELISA.

Results: Fig leaf extract significantly reduced FBG levels and increased GLUT-2 expression in both pancreatic and hepatic cells. However, these effects were not statistically significant when compared to the control group. Higher extract doses showed greater trends toward glycemic improvement.

Conclusions: Fig leaf extract may have beneficial effects in lowering FBG and enhancing GLUT-2 expression in STZ-NA-induced diabetic rats. The data on glucose levels suggest a statistically insignificant trend toward decreased glucose levels. Although the observed improvements were not statistically significant, the trends suggest potential antidiabetic activity, particularly at higher doses. The lack of significance may be attributed to the dosage of the extract used in this study.

Introduction: Insulin is primarily known for its role in glucose homeostasis regulation. Since the discovery that insulin crosses the blood-brain barrier (BBB) in the year 1954, the influence of insulin on the central nervous system (CNS) has been under continuous research.

Aim of the study: The aim of this paper is to review the current knowledge about the effects of insulin on CNS function in the pediatric population with special attention to diabetes type 1.

Material and methods: The PubMed and Cochrane search engines were used in the data searching process.

Conclusions: Recent studies have shown that insulin has substantial glycemic and non-glycemic effects on the human brain. In pediatric populations, insulin's non-glycemic effects on CNS function are of particular interest due to the critical role of insulin in brain development, cognitive maturation, and learning. Therefore, children and adolescents with diabetes type 1 (T1DM), resulting in insulin deficiency and dysregulated glucose metabolism, require special attention.

Conclusions: While insulin therapy is essential for glycemic control in pediatric patients with T1DM, researchers suggest that insulin also has a crucial effect on the central nervous system (CNS), which may have implications for neurodevelopment and cognitive function in this group of patients.

Continuous glucose monitoring (CGM) systems have revolutionized diabetes management by providing real-time glycemic data, improving control, and reducing the risk of both acute and chronic complications. With an increasing range of CGM systems available on the market, selecting the most appropriate system has become a challenge for both patients and healthcare professionals. This narrative review aims to analyze the available CGM systems and identify the factors that influence the personalized selection of a CGM system for patients with diabetes, based on system functions and features. Factors influencing CGM choice are discussed, including patient age, fear of puncture, physical activity, aesthetics, and financial considerations.

Introduction: To characterise severe hypertriglyceridaemia (HTG) in Indian children, focusing on clinical and genetic profiles.

Material and methods: A retrospective analysis from January 2017 to December 2023 included children up to 14 years old with triglyceride (TG) levels > 500 mg/dl, excluding children with known secondary causes.

Results: Among 18 children with severe HTG, 7 had secondary causes. Data from 11 patients (7 boys, median age at diagnosis 0.9 [0.45-2.4] years) revealed presenting features such as lipemic serum (63.3%), failure to thrive (36.3%), loss of subcutaneous fat (18.2%), and abdominal distension (18.2%). Genetic aetiology was identified in 10 cases, with familial chylomicronaemia syndrome (FCS) being the most prevalent (6 cases) caused by the lipoprotein lipase (LPL) and apolipoprotein A-V (APOA5) gene mutations. One each had mutations in the 1-acylglycerol-3-phosphate O-acyltransferase 2 (AGPAT2), lamin A/C (LMNA), glucose-6-phosphatase catalytic subunit (G6PC), and glycerol kinase (GK) genes. FCS patients presented earlier and were resistant to treatment targets, requiring drug therapy. At the final follow-up (mean duration 1.75 ±1.0 years) of 9 patients, the median TG levels for the FCS and non-FCS groups were 1240 (610-1,685) and 412 (247.5-993) mg/dl, respectively. Only 2 patients (40%) with FCS had TG levels < 1000 mg/dl, while all but one (75%) non-FCS subjects had TG levels < 500 mg/dl at the last follow-up. One child developed acute pancreatitis during the said duration.

Conclusions: Paediatric HTG is often detected incidentally. Genetic characterisation is crucial for prognosis because baseline TG levels are non-predictive. Drug therapy helps to reach treatment targets in most of the patients.

Introduction: Meliponine honey, derived from stingless bees, has significant therapeutic potential due to its bioactive compounds, such as polyphenols and flavonoids, which contribute to its antioxidant and antidiabetic properties. However, the variations in honey quality based on bee species and geographical origin still require further exploration to maximize its benefits. This study aimed to evaluate the variations in antioxidant and antidiabetic properties of meliponine honey based on stingless bee species and their geographical origins.

Material and methods: This scoping review follows the Joanna Briggs Institute methodology, including a comprehensive literature search in major scientific databases such as PubMed, Scopus, DOAJ, Wiley Online, and Google Scholar. Data from relevant studies were extracted and analyzed using a thematic synthesis approach to identify patterns in the bioactivity of Trigona honey.

Results: A total of 23 articles met the inclusion criteria. The analysis revealed that the antioxidant properties of meliponine honey are influenced by phenolic and flavonoid content, which vary according to geographical origin, local flora, and bee species. The antidiabetic activity of the honey is associated with its ability to inhibit a-amylase and a-glucosidase enzymes and enhance insulin release. Honey from regions such as Kalimantan and Sarawak exhibited higher bioactive content compared to other areas.

Conclusions: Meliponine honey is a promising natural therapeutic agent for diabetes management, with its bioactive quality influenced by bee species, geographical origin, and botanical sources. This study supports further development to optimize the benefits of meliponine honey through holistic approaches and broader clinical trials.