{"title":"Inherited metabolic disorders… …do not miss treatable diseases….","authors":"Maria Giżewska","doi":"10.5114/pedm.2024.138665","DOIUrl":"https://doi.org/10.5114/pedm.2024.138665","url":null,"abstract":"","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"30 1","pages":"1-2"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141724692","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Monika Soczewka, Andrzej Kędzia, Bogda Skowrońska, Elżbieta Niechciał
{"title":"Importance of diet in children and adolescents with obesity and asthma.","authors":"Monika Soczewka, Andrzej Kędzia, Bogda Skowrońska, Elżbieta Niechciał","doi":"10.5114/pedm.2024.140936","DOIUrl":"10.5114/pedm.2024.140936","url":null,"abstract":"<p><p>Both obesity and asthma are increasingly being diagnosed in the childhood population. Obesity is linked to a greater asthma morbidity, and it increases the risk of severity of the disease course. The association between these 2 disorders has not yet been fully elucidated; however, several putative factors have been proposed related to mechanical and inflammatory aspects of obesity. Diet is an important adjustable element in obesity and asthma management. An unhealthy diet based on processed food is likely to promote chronic inflammation in both conditions; hence, appropriate nutrition should be an integral part of the children's therapy. This review discusses dietary models that have a positive impact on patient health.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"30 2","pages":"91-96"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11249804/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141724629","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Effects of different types of meals on postprandial glycaemia in healthy subjects.","authors":"Agnieszka Lejk, Karolina Myśliwiec, Przemysława Jarosz-Chobot","doi":"10.5114/pedm.2024.142587","DOIUrl":"10.5114/pedm.2024.142587","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"30 3","pages":"159-162"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11538917/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142509819","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Human growth hormone therapy - in three stages: past, present, and future.","authors":"Maciej Hilczer, Mieczysław Walczak","doi":"10.5114/pedm.2024.140935","DOIUrl":"10.5114/pedm.2024.140935","url":null,"abstract":"","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"30 2","pages":"49-50"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11249796/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141724628","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Dorota Roztoczyńska, Adrianna Kot-Marchewczyk, Anna Wędrychowicz, Artur Dobosz, Jerzy Starzyk
{"title":"Indications for genetic diagnosis in children with growth hormone deficiency and born small for gestational age.","authors":"Dorota Roztoczyńska, Adrianna Kot-Marchewczyk, Anna Wędrychowicz, Artur Dobosz, Jerzy Starzyk","doi":"10.5114/pedm.2024.140998","DOIUrl":"10.5114/pedm.2024.140998","url":null,"abstract":"<p><strong>Introduction: </strong>The aim of the study is to analyze patients who do not respond adequately to human recombinant growth hormone (rhGH) treatment.</p><p><strong>Material and methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"30 2","pages":"51-60"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11249793/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141724630","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Importance of simulation-based medical education and its application in diabetology.","authors":"Paulina Pokrywka, Halla Kamińska, Przemysława Jarosz-Chobot","doi":"10.5114/pedm.2024.136280","DOIUrl":"10.5114/pedm.2024.136280","url":null,"abstract":"","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"30 1","pages":"45-47"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11037088/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141724690","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Magdalena Suda-Całus, Katarzyna Dąbrowska, Ewa Gulczyńska
{"title":"Infant of a diabetic mother: clinical presentation, diagnosis and treatment.","authors":"Magdalena Suda-Całus, Katarzyna Dąbrowska, Ewa Gulczyńska","doi":"10.5114/pedm.2024.137891","DOIUrl":"10.5114/pedm.2024.137891","url":null,"abstract":"<p><p>An infant of a diabetic mother is defined as a newborn born to a mother who has diabetes during pregnancy. The term diabetic mother refers to pregnant women with diabetes diagnosed either before (type 1 or 2 diabetes) or during pregnancy (gestational diabetes). Rising incidence of type 1 and type 2 diabetes in young women and increasing maternal age at conception account for the higher risk of birth complications and adverse maternal and infant outcomes. Infants of diabetic mothers (IDMs) because of mother's diabetes are prone to developing complications and the most common include: large birth weight and complications resulting from it (i.e. birth injuries, perinatal asphyxia), cardiovascular and respiratory insufficiency (poor tolerance of labor stress), neonatal hypoglycemia and it's complications, delayed lung maturity (fetal hyperinsulinism and the opposite function of insulin to cortisol), cardiomegaly and hypertrophy of the intraventricular septum (functional narrowing of the outflow of the left ventricle and cardiac failure), congenital malformations (most often of the central nervous system and heart). Less common complications in IDMs are: persistent pulmonary hypertension, hyperbilirubinemia, renal vein thrombosis, small left colon syndrome, intrauterine death, polycythemia, and a predisposition to obesity, insulin resistance and diabetes later in life. This article presents current knowledge about pathological conditions and the recommended management for IDMs.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"30 1","pages":"36-41"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11037090/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141724691","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Obesity in children: inheritance and treatment - state of art 2024.","authors":"Małgorzata Wójcik, Agnieszka Zachurzok","doi":"10.5114/pedm.2024.144042","DOIUrl":"10.5114/pedm.2024.144042","url":null,"abstract":"","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"30 3","pages":"112-115"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11538914/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142509821","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Monika Pohorecka, Marcin Biernacki, Anna Jakubowska-Winecka, Kinga Leszczynska-Iwanicka, Dariusz Rokicki, Paulina Pokora, Barbara Perkowska, Magdalena Pajdowska, Marta Biernacka
{"title":"Emotional and behavioural functioning in children with tyrosinaemia type 1.","authors":"Monika Pohorecka, Marcin Biernacki, Anna Jakubowska-Winecka, Kinga Leszczynska-Iwanicka, Dariusz Rokicki, Paulina Pokora, Barbara Perkowska, Magdalena Pajdowska, Marta Biernacka","doi":"10.5114/pedm.2024.138666","DOIUrl":"10.5114/pedm.2024.138666","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>The aim of the study: </strong>was the assessment the relationship between variations in serum tyrosine and phenylalanine levels and measurements of socio-emotional functioning and determination of patients' IQs.</p><p><strong>Material and methods: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"30 1","pages":"8-13"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11037086/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141724689","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Prevalence and factors associated with school failure in children with type 1 diabetes.","authors":"Sawsen Nouira, Taieb Ach, Asma Ammar, Meriem Ach, Ghada Sabbagh, Olfa Ezzi, Asma Benabdelkrim","doi":"10.5114/pedm.2023.133124","DOIUrl":"10.5114/pedm.2023.133124","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Material and methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"30 1","pages":"3-7"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11037087/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141724695","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}