Pediatric Endocrinology, Diabetes and Metabolism最新文献

Introduction: Primary hyperparathyroidism (PHPT) is a rare disease in children and adolescents. Early recognition of this disease is important to prevent significant morbidity and mortality.

Material and methods: We included 10 consecutive patients with PHPT aged 14 to 19 years of age and followed-up prospectively upto one year after parathyroidectomy.

Results: Our cohort included 6 females and 4 males. The mean age of the patients was 16.7 ±1.8 years. The symptoms at presentation were musculoskeletal pain (90%), bone deformity (50%), fracture (30%), proximal myopathy (40%), renal stones (50%), reflux symptoms (40%), and pancreatitis (30%). The mean serum calcium was 3.1 ±0.5 mmol/l, mean serum inorganic phosphorus was 0.9 ±0.3 mmol/l and median serum alkaline phosphatase (ALP) was 1911.5 IU/l (IQR: 522.7-5702.3). The median serum intact parathyroid hormone was 133.5 pmol/l (IQR: 69.5 -178.7) while serum 25(OH)D was 47.7 nmol/l (IQR: 23.7-72.7). Hypercalciuria was observed in 7 patients. Hungry bone syndrome was observed in 4 (40%) patients after surgery. Typical parathyroid adenoma was found in 9 (90%) patients while one patient had atypical adenoma with high mitotic index. After one year of surgery, all patients had significant improvement in clinical and biochemical parameters with persistence of residual bone deformities.

Conclusions: Our study showed the spectrum of manifestations of PHPT in children and adolescents and outcomes of parathyroidectomy till one year. Long-term follow-up studies with bigger cohorts are required to understand the true nature of the disease in children and adolescents.

Introduction: Obesity is considered an epidemic condition. It is related to the increased prevalence of chronic degenerative diseases, but there are no studies in the Mexican paediatric population on its relationship with sleep disorders.

Aim of the study: We sought to determine the prevalence of sleep disorders in paediatrics, as well as factors for their development.

Material and methods: An observational, analytical, retrospective study, was performed including patients aged 2 to 16 years, between March 2019-2021. The Paediatric Sleep Questionnaire was used to assess the presence of sleep disorders.

Results: Sixty-four patients were included, 27 (42.18%) of whom had sleep disorder criteria. Among these, obesity, i.e. weight percentile ≥ 75 and body mass index percentile ≥ 93.5, was a risk factor. Normal weight was protective.

Conclusions: Obesity in paediatric patients may favour the appearance of sleep disorders; screening could favour early diagnosis, correct treatment, and better life quality.

Introduction: Obesity is a civilization disease of the 21st century. The prevalence of obesity and overweight among children and adolescents is constantly increasing. BMI (body mass index) and WHR (waist to hip ratio) are methods of obesity assessment recommended by the WHO. Also, the WtHR (waist to height ratio), which takes into account height, is one of the most popular methods of diagnosing childhood obesity. A more recent diagnostic indicator is the FMI (fat mass index), which considers the percentage of the patient's body fat.

The aim of the study: was to compare the methods of assessing obesity in children and adolescents using the following indicators: BMI, WHR, WtHR, and FMI and to determine the consistency of the results obtained with them.

Material and methods: The study included 195 children aged 11-18 years, from whom the following data were collected: height, weight, waist circumference, and percentage of body fat. The calculated indices (BMI, WHR, WtHR, FMI), expressed in SDS, were compared using the Bland-Altman test, Passing-Bablok regression, and the slope chart.

Results: The fewest diagnoses of obesity were shown by FMI SDS (15.9%) and the highest by WHR SDS (28.7%). WHR SDS showed the least consistent results with BMI SDS. Significant statistical differences were found between BMI SDS and both FMI SDS and WtHR SDS.

Conclusions: BMI, as the most acceptable obesity indicator, can be used as a screening method for assessing obesity. However, patients with boundary BMI values should be examined more precisely, using more than one index. FMI is recommended.

Anorexia nervosa (AN) is a disease mainly of the female sex (90-95% of cases). Almost exclusive, in the past, of the middle-upper classes, in more recent years it has spread to all social strata. The origin and course of eating disorders (ED) are determined, due to the multifactorial etiology, by a plurality of variables, none of which, alone, is capable of triggering the disease or influencing its course and outcome. Therefore, to understand them in full, it is necessary to take due consideration of biological, psychological and evolutionary factors. The role of some conditions present since birth or childhood, such as genetic vulnerability, family environment and traumatic experiences is not yet well understood in AN pathogenesis. In many cases, some individual characteristics such as perfectionism, low self-esteem, poor ability to regulate emotions, difficulty in conscious management of the body and body image in adolescence precede the onset of ED. Certainly, socio-cultural factors also favor the development of these disorders, in particular the association of thinness with beauty and personal success.

Introduction: Endocrine-disruptors are exogenous compounds that interfere with the human biological system. Bisphenol-A and toxic ele-mental mixtures (e.g. As, Pb, Hg, Cd, and U) are major endocrine-disruptive chemicals documented by the USEPA. Globally obesi-ty is a major health problem with increasing fast-food intake among children. The use of food packaging material is rising global-ly, becoming a primary source of chemical migration from food contact materials.

Material and methods: This protocol is a cross-sectional study, and the primary outcome is to assess the various dietary and non-dietary exposure sources of endocrine-disruptive chemicals (bisphenol A and heavy metals) through a questionnaire, and quantification of urinary bisphenol A and heavy metals using LC-MS/MS and ICP-MS, respectively, among children. In this study, anthropometric assess-ment, socio-demographic characteristics, and laboratory investigations will be performed. Exposure pathway assessment will be done using questions about household characteristics, surroundings, food and water sources, physical/dietary habits, and nutri-tional assessment.

Results: An exposure pathway model will be developed based on the questions on source, pathway/exposure, and receptor (child), of those exposed to or potentially exposed to the endocrine-disruptive chemicals.

Conclusions: The children who are exposed or potentially exposed to the chemical migration sources need intervention through local bodies, school curriculum, and training programs. Also, methodological points of view implication of regression models and the LASSO approach will be assessed to identify the emerging risk factors of childhood obesity and even reverse causality through multi-pathway exposure sources. The feasibility of the current study outcome can be implicated in developing countries.

Neonatal severe hyperparathyroidism (NSHPT) causes severe hypercalcaemia, metabolic bone disease, and potential neurodevelopmental deficits, all of which can be life-threatening. The use of calcimimetic agents can prevent or delay technically difficult parathyroidectomy in the newborn period. We present a 6-day-old male infant who presented with poor feeding, weight loss, and severe hypotonia. His total serum calcium and parathyroid hormone levels were very high (23.6 mg/dl and 1120 ng/dl, respectively). Based on these findings, the patient was diagnosed with NSHPT and was started on cinacalcet therapy until the genetic analysis results were available. Genetic analysis revealed a previously reported homozygous mutation in the CASR gene that was unresponsive to cinacalcet therapy in the literature. However, a normocalcaemic state unexpectantly occurred, which could be maintained with low calcium formula and cinacalcet therapy up to 13 months of age in the patient. Nevertheless, hypercalcaemia developed 2 months after he started a normal calcium-containing diet. Therefore, the patient underwent total parathyroidectomy at 17 months of age. We would like to emphasize, in light of this case, that cinacalcet treatment may be considered as first-line therapy for delaying parathyroidectomy in all cases with NSHPT, even in those who have an unresponsive cinacalcet CASR gene mutation.

Intensive technology development as well as the COVID-19 pandemic has contributed to the increased interest in the telemedicine and mHealth sector. Increasing availability and use of mobile devices as well as the constantly growing number of nutritional mobile applications, resulted in creating new tools for food and meals nutrients calculation which can be used by patients with diabetes. Variety of mobile applications and multiple functions included in them enable finding applications focused on individual patients' needs. The scientific data coming from research conducted so far suggest that the regular use of mobile nutritional applications contributes to improving metabolic control of diabetes and the reduction of the value of glycated hemoglobin in patients with diabetes. Innovative solutions bring hope also for a significant improvement in the quality of life of patients. The aim of this article was to summarize the EBM knowledge about the use of mHealth in self-control and diet of patients with diabetes, especially type 1 and to present and assess the nutrition mobile applications available in polish language according to their functionality in diabetic self-control.

Abstract: The fibroblast growth factor 21 (FGF21) is a new biomarker of mitochondrial diseases (MD). FGF21 concentration may be used to define the severity of mitochondrial disease.

Aim of the study: The study objective was to verify if the FGF21 concentration in paediatric patients with MD was correlated with the disease severity and stage and to assess the correlation between FGF21 levels and the genetic background of MD.

Material and methods: The disease stage in MD subjects was determined on the basis of the International Paediatric Mitochondrial Disease Scale (IPMDS) and the concentrations of FGF21, lactic and pyruvic acids, alanine and creatine kinase in serum were assessed in those patients.

Results: The median age of children with MD (n = 32) was 33 months (range: 2-213), in the control group (n = 21) the median age was 42 months (range: 8-202). The concentrations of FGF21, lactic acid and pyruvic acid were higher in MD patients than in the control group. No correlation between the disease severity (IPMDS) and serum FGF21 concentration was found. The FGF21 concentration was higher in patients whose MD resulted from nuclear gene damage (nDNA), median FGF21 = 1022 (84-8873) pg/ml, than in patients with MD resulting from mitochondrial damage (mtDNA), median FGF21 = 736 (188-2906) pg/ml, or with an abnormal variant in the PDHA1 gene, median FGF21 = 58 (25-637) pg/ml.

Conclusions: There is no correlation between the stage of MD and FGF21 level. Higher FGF21 values are seen in patients whose MD results from an abnormal nDNA variant rather than mtDNA damage.

Introduction: The prevalence of obesity in children is increasing. In obese children, clinical examination alone is not sufficient to differentiate lipomastia from thelarche. The aim of this study was to investigate the frequency of true thelarche in obese girls suspected of precocious puberty.

Material and methods: In a cross-sectional study, 100 obese girls between the ages of 2 and 8 years were screened. Maturity stages were determined based on the Tanner scale in the questionnaire. Breast ultrasound was performed for all cases. Other uterine and ovarian laboratory tests, including blood tests to determine plasma levels of LH, FSH, oestradiol, and bone age, were also performed.

Results: In ultrasonography examination of 80 children (80%), one breast was pubertal and in 72 people both breasts were pubertal in which ultrasonography of 78 children showed puberty of right breast and 74 children showed puberty of left breast. Twenty children showed bilateral lipomastia. In clinical examination, breasts of 18.9% children seemed lipoid, 35.8% children were seriously suspicious, and 45.3% children seemed pubescent. In pelvic ultrasound, the relationship between ovarian volume and breast ultrasound grade was significant, but uterine volume was not significantly related to breast ultrasound grade. Also, uterine volume with age at ultrasonography, bone age, birth height, left ovarian volume, right ovarian volume, right breast bud diameter, and left breast bud diameter were correlated.

Conclusions: Ultrasound can help obese or overweight children to differentiate between true thelarche and lipomastia. The study also found that most suspected children had true thelarche.