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1.
Metabolites ; 14(10)2024 Oct 09.
Artigo em Inglês | MEDLINE | ID: mdl-39452921

RESUMO

BACKGROUND: Our paper draws attention to the impact of lead (Pb) on the specificity of obesity development in children exposed to environmental pollution. An advantage of this paper is the homogeneous study group comprising children of identical age from a single geographic region. Moreover, while the influence of environmental toxins on adults has been extensively explored, this study delves into pediatric populations, which have yet to receive comprehensive scrutiny within the scientific literature. METHODS: Initially, a group of 136 obese children (the research program lasted three consecutive years: 2016, 2017, and 2018) living in the north-western region of Poland, from whom biochemical tests and auxological data were obtained, were enrolled for analysis. Blood lead levels (BLLs) were determined in 115 children. The age of the children ranged from 7.1 to 10.4 years. The body mass index (BMI) of children averaged 21.5 ± 2.2. RESULTS: The results showed that a large proportion of the participants had BLLs above the threshold for Pb. BLLs ≤ 5 µg/dL (considered safe for children and pregnant women) were found in over 70% of the participants, with BLLs in the range of 5.01-10.00 µg/dL in over 26% of the children, and concentrations > 10 µg/dL (considered toxic threshold for adults) in nearly 2% of the children. The results of our research revealed a positive association between BLLs and average systolic and diastolic blood pressure in the studied children. Moreover, we found a negative correlation between BLLs and absolute fat tissue content and triglyceride concentration. Among the included biochemical factors, only insulin demonstrated a statistically significant relationship with fat mass. This result suggests that early carbohydrate metabolism disorders in overweight children involve decreased peripheral tissue insulin sensitivity. CONCLUSIONS: Lead exposure may significantly contribute to the development of hypertension, insulin resistance, and glucose metabolism disorders in overweight and obese children. It is essential to implement multidirectional actions to increase awareness of the harmful effects of xenobiotic exposure, including lead, in order to prevent early-life exposure.

2.
Pediatr Endocrinol Diabetes Metab ; 30(3): 132-147, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39451186

RESUMO

Currently, hybrid closed loop (HCL) systems represent the most advantageous therapeutic option for people with diabetes requiring intensive insulin therapy. They make it possible to achieve optimal metabolic control of the disease in any age group while improving the quality of life of children and adolescents with diabetes and their families. Therefore, we present recommendations for the use of HCL systems in children and adolescents focusing on systems currently available in Poland. These systems should be the first choice in terms of method of insulin therapy in the paediatric population. They can be implemented at any stage of diabetes management. These recommendations are based on scientific evidence and experts' experience. They include principles for the initiation, optimisation, and ongoing management of HCL therapy, as well as the required HCL-related education.


Assuntos
Diabetes Mellitus Tipo 1 , Hipoglicemiantes , Sistemas de Infusão de Insulina , Insulina , Humanos , Criança , Adolescente , Polônia , Diabetes Mellitus Tipo 1/tratamento farmacológico , Insulina/administração & dosagem , Insulina/uso terapêutico , Hipoglicemiantes/uso terapêutico , Hipoglicemiantes/administração & dosagem , Endocrinologia/normas , Sociedades Médicas , Guias de Prática Clínica como Assunto
3.
Endokrynol Pol ; 75(5): 548-557, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39475135

RESUMO

INTRODUCTION: The acid-labile subunit (ALS) is a protein best known for its function in stabilising the insulin like growth factor-1/2-insulin-like growth factor-1 binding protein 3/5 (IGF-1/2-IGFBP3/5) binary complex by creating the ternary complex and in consequence regulating the biological activity of IGF-1. The aim of the study was to assess ALS concentrations in a chosen population of children with short stature taking into account their clinical diagnosis. MATERIAL AND METHODS: A total of 109 prepubertal children were involved in the study - 85 children in the study group and 24 in controls. In all the children IGF-1, IGFBP3, and ALS were measured. The study group was divided according to diagnosis into groups: growth hormone deficiency (GHD), constitutional delay of growth and puberty (CDGP), idiopathic short stature (ISS), and familial short stature (FSS). RESULTS: In the control group the ALS concentration ranged from 4.81 to 13.66 µg/mL. In the whole study group the ALS concentration ranged from 2.73 to 15.81 µg/mL. The difference between both groups was statistically significant (p < 0.0001, R = 0.39). A strong, statistically significant correlation between ALS levels and age was observed, but only in the study group (p < 0.0001, r = 0.59). The ALS standard deviation score (SDS) was not significantly different between the control and CDGP children (p = 0.0644). The ALS concentration was significantly lower in children with short stature. There was, however, no difference between the subgroups of the study group. CONCLUSION: There was no significant difference in ALS SDS between the control group and children with constitutional delay of growth and development. The usefulness of ALS in routine short stature diagnostics is uncertain, but it might play a role in the diagnosis of children with ISS and CDGP in the future.


Assuntos
Glicoproteínas , Humanos , Criança , Feminino , Masculino , Transtornos do Crescimento/diagnóstico , Proteínas de Transporte , Pré-Escolar , Fator de Crescimento Insulin-Like I/metabolismo , Fator de Crescimento Insulin-Like I/análise , Proteína 3 de Ligação a Fator de Crescimento Semelhante à Insulina/sangue , Estatura
4.
Biomedicines ; 12(8)2024 Aug 21.
Artigo em Inglês | MEDLINE | ID: mdl-39200382

RESUMO

Growth hormone therapy (GHT) can improve growth velocity and final height, but can also accelerate the process of bone growth, which is related to structural bone modeling in both formation and resorption. This study evaluated the capacity of bone turnover markers to predict early growth response to one year of GHT in short stature children born small for gestational age (SGA). This study included 25 prepubertal children born SGA. We estimated P1NP (N-terminal procollagen type 1), CTX (C-terminal telopeptide of collagen type 1), P3NP (N-terminal procollagen type 3), NT-pro-CNP (amino-terminal C-type natriuretic peptide) and Ca-P metabolism using standard ECLIA (electrochemiluminescence), RIA (radioimmunoassay), and ELISA (enzyme-linked immunosorbent assay) methods. A statistically significant increase in bone resorption markers (CTX) was found at both 6 and 12 months. P1NP bone markers were increased at 6 months and after 12 months of therapy. The P3NP marker for collagen synthesis also increased after 12 months of therapy. We obtained significant increases in phosphorus levels at 6 and 12 months, and similar ALP (alkaline phosphatase) increases. We found a significant correlation between height (cm) and CTX after 6-12 months, as well as a P1NP/height (SD) correlation after 12 months. Calcium levels significantly correlated with height (SD) after 12 months. We found strong reactions of bone resorption and bone formation markers during growth hormone therapy, which may determine their selection as predictors of GHT outcome in children born SGA. However, the issue requires further research.

5.
Genes (Basel) ; 15(8)2024 Jul 30.
Artigo em Inglês | MEDLINE | ID: mdl-39202358

RESUMO

Spinal muscular atrophy with respiratory distress type 1 (SMARD1; OMIM #604320, ORPHA:98920) is a rare autosomal recessive congenital motor neuron disease. It is caused by variants in the IGHMBP2 gene. Clinically, it presents with respiratory failure due to diaphragmatic paralysis, progressive muscle weakness starting in the distal parts of the limbs, dysphagia, and damage to sensory and autonomic nerves. Unlike spinal muscular atrophy (SMA), SMARD1 has a distinct genetic etiology and is not detected in the population newborn screening programs. Most children with SMARD1 do not survive beyond the first year of life due to progressive respiratory failure. Artificial ventilation can prolong survival, but no specific treatment is available. Therapy focuses on mechanical ventilation and improving the patient's quality of life. Research into gene therapy is ongoing. We report three female patients with SMARD1, including twins from a triplet pregnancy. In twin sisters (patient no. 1 and patient no. 2), two heterozygous variants in the IGHMBP2 gene were identified: c.595G>C/p.Ala199Pro and c.1615_1623del/p.Ser539_Tyr541del. In patient no. 3, a variant c.1478C>T/p.Thr493Ile and a variant c.439C>T/p.Arg147* in the IGHMBP2 gene were detected. Our findings underscore the variability of clinical presentations, even among patients sharing the same pathogenic variants in the IGHMBP2 gene, and emphasize the importance of early genetic diagnosis in patients presenting with respiratory failure, with or without associated diaphragmatic muscle paralysis.


Assuntos
Proteínas de Ligação a DNA , Atrofia Muscular Espinal , Síndrome do Desconforto Respiratório do Recém-Nascido , Fatores de Transcrição , Humanos , Feminino , Proteínas de Ligação a DNA/genética , Fatores de Transcrição/genética , Atrofia Muscular Espinal/genética , Atrofia Muscular Espinal/patologia , Síndrome do Desconforto Respiratório do Recém-Nascido/genética , Síndrome do Desconforto Respiratório do Recém-Nascido/patologia , Lactente , Recém-Nascido , Mutação
7.
Neurol Neurochir Pol ; 58(5): 498-502, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38935421

RESUMO

INTRODUCTION: Lambert-Eaton myasthenic syndrome (LEMS) is an ultrarare neuromuscular disease with a triad of symptoms: muscle paresis, dysautonomy, and areflexia. Amifampridine is the symptomatic treatment of LEMS. AIM OF STUDY: To assess the effectiveness and safety of treatment in the real world. MATERIAL AND METHODS: 14 patients with non-neoplastic LEMS treated with amifampridine were enrolled in the study (female 42.9%, mean age 48.8 ± 11.4 years). The patients were assessed using the Quantitative Myasthenia Gravis (QMG) scale, QMG limb domain (LD) score, spirometry, Hand Grip Strength (GRIP) test, and repetitive nerve stimulation study (RNS) at baseline and at the end of follow-up. Diagnostic delay since first symptoms was from seven months up to 22 years. Treatment delay ranged from one to 26 years. The patients were treated and reevaluated after 21.1 ± 12.0 weeks (range 13-48). RESULTS: All of the patients improved in QMG score. Mean improvement was 5.1 ± 2.0 (range 1-8) points (p < 0.001) and this showed no correlation with the duration of the disease before treatment (p = 0.477). 85.7% of patients (N = 12) improved ≥ 3 points (clinically meaningful) in QMG. 78.6% of the patients improved in QMG LD (mean 2.2 ± 1.6 points (p < 0.001)). Also, forced vital capacity (FVC) improved after treatment (p = 0.031). Mean improvement in GRIP test was 7.0 ± 7.1 kg in the right hand and 5.2 ± 7.5 kg in the left hand (p < 0.001). In RNS before treatment, facilitation ( > 100%) was observed in 78.6% (N = 11) of patients, and was higher before treatment (p < 0.001). Compound muscle action potential (CMAP) amplitude was higher after treatment (p < 0.001). Mean increase of CMAP amplitude was 2.1 ± 1.6 times. In 64.3% (N = 9) of patients lowering of corticosteroid dose was achieved. CONCLUSIONS: Amifampridine is an effective treatment in non-neoplastic LEMS patients, regardless of disease duration. The treatment is well-tolerated and allows to reduce dose of corticosteroids in the majority of patients.


Assuntos
Amifampridina , Síndrome Miastênica de Lambert-Eaton , Humanos , Feminino , Síndrome Miastênica de Lambert-Eaton/tratamento farmacológico , Pessoa de Meia-Idade , Masculino , Adulto , Amifampridina/uso terapêutico , Resultado do Tratamento , Força da Mão , Bloqueadores dos Canais de Potássio/uso terapêutico
8.
J Clin Med ; 12(20)2023 Oct 16.
Artigo em Inglês | MEDLINE | ID: mdl-37892696

RESUMO

Childhood obesity represents a significant challenge both clinically and socio-economically. This study aimed to assess specific biochemical parameters, particularly glucose, insulin and lipid profile, before and after a year-long intervention program in 8- and 9-year-old children with excessive body weight living in Szczecin, Poland from 2016 to 2018. The research comprised two phases: screening in elementary schools and intervention in the outpatient clinic of the clinical Pomeranian Medical University hospital. Out of 11,494 8- to 9-year-olds in Szczecin, 42.54% (4890) participated in the screening. In the intervention phase, 515 children were examined. Anthropometric measurements were recorded at each visit, and blood samples were collected during the first and fourth visits. In the statistical analysis, the Kolmogorov-Smirnov, t-Student and ANOVA tests were employed (with statistical significance when p ≤ 0.05). Results highlighted a significant proportion of children exhibiting disruptions in carbohydrate and lipid metabolism. A total of 8.6% of participants had elevated total cholesterol, 9.7% had reduced HDL, 13.4% had elevated LDL, and 21.2% had elevated triglycerides. Initially, abnormal fasting glucose was detected in 4.7% of children, and elevated insulin levels in 3.1%. Metabolic disorders persisted post-intervention despite BMI improvement. The results emphasize the necessity for prolonged programs with frequent follow-ups targeting weight normalization in children.

9.
Front Endocrinol (Lausanne) ; 14: 1149982, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37810882

RESUMO

Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue. It presents with a wide spectrum of skeletal and extraskeletal features, and ranges in severity from mild to perinatal lethal. The disease is characterized by a heterogeneous genetic background, where approximately 85%-90% of cases have dominantly inherited heterozygous pathogenic variants located in the COL1A1 and COL1A2 genes. This paper presents the results of the first nationwide study, performed on a large cohort of 197 Polish OI patients. Variants were identified using a next-generation sequencing (NGS) custom gene panel and multiplex ligation probe amplification (MLPA) assay. The following OI types were observed: 1 (42%), 2 (3%), 3 (35%), and 4 (20%). Collagen type I pathogenic variants were reported in 108 families. Alterations were observed in α1 and α2 in 70% and 30% of cases, respectively. The presented paper reports 97 distinct causative variants and expands the OI database with 38 novel pathogenic changes. It also enabled the identification of the first glycine-to-tryptophan substitution in the COL1A1 gene and brought new insights into the clinical severity associated with variants localized in "lethal regions". Our results contribute to a better understanding of the clinical and genetic aspects of OI.


Assuntos
Colágeno Tipo I , Osteogênese Imperfeita , Humanos , Colágeno Tipo I/genética , Osteogênese Imperfeita/genética , Polônia/epidemiologia , Cadeia alfa 1 do Colágeno Tipo I , Mutação , Sequenciamento de Nucleotídeos em Larga Escala
10.
J Clin Med ; 12(13)2023 Jun 29.
Artigo em Inglês | MEDLINE | ID: mdl-37445427

RESUMO

The assessment of IGF-1 concentrations is one of the parameters used for evaluating response to rhGH treatment. An increase in IGF-1 concentration positively correlates with growth improvement, whereas IGF-1 concentrations significantly above the reference range may increase the risk of possible side effects. The aim of this study was to evaluate the IGF-1 local reference ranges for the rhGH treatment centers concerned and to compare these values with the population reference ranges. A retrospective analysis was conducted on auxological data from 229 SGA patients who received rhGH treatment between 2016 and 2020 at six university clinical centers in Poland. The IGF-1 levels were assessed at baseline, after 12 and 24 months, and compared to the reference ranges provided by the local laboratory and to the population reference ranges. After 12 months, 56 patients (24%) presented IGF-1 values > 97th percentile for the local reference range, whereas only 8 (3.5%) did so using the population reference ranges; p < 0.001. After 24 months of treatment, the values were: 47 (33%) > 97th percentile by local vs. 6 (4.2%) by population standards; p < 0.001. Thirty-nine patients had rhGH dose reduced after 12 months, of whom twelve (25%) had IGF-1 > 97th percentile according to the local reference ranges and five (13%) > 97th percentile for the population. Our data suggest that different methods used to determine IGF-1 concentration and the different IGF-1 reference ranges result in a significant proportion of rhGH-treated children with elevated IGF-1 concentration and experiencing dose reductions, which may negatively affect growth rate.

11.
Nutrients ; 15(3)2023 Jan 30.
Artigo em Inglês | MEDLINE | ID: mdl-36771403

RESUMO

Introduction: All epidemiological studies suggest that vitamin D deficiency is prevalent among the Polish general population. Since vitamin D deficiency was shown to be among the risk factors for many diseases and for all-cause mortality, concern about this problem led us to update the previous Polish recommendations. Methods: After reviewing the epidemiological evidence, case-control studies and randomized control trials (RCTs), a Polish multidisciplinary group formulated questions on the recommendations for prophylaxis and treatment of vitamin D deficiency both for the general population and for the risk groups of patients. The scientific evidence of pleiotropic effects of vitamin D as well as the results of panelists' voting were reviewed and discussed. Thirty-four authors representing different areas of expertise prepared position statements. The consensus group, representing eight Polish/international medical societies and eight national specialist consultants, prepared the final Polish recommendations. Results: Based on networking discussions, the ranges of total serum 25-hydroxyvitamin D concentration indicating vitamin D deficiency [<20 ng/mL (<50 nmol/L)], suboptimal status [20-30 ng/mL (50-75 nmol/L)], and optimal concentration [30-50 ng/mL (75-125 nmol/L)] were confirmed. Practical guidelines for cholecalciferol (vitamin D3) as the first choice for prophylaxis and treatment of vitamin D deficiency were developed. Calcifediol dosing as the second choice for preventing and treating vitamin D deficiency was introduced. Conclusions: Improving the vitamin D status of the general population and treatment of risk groups of patients must be again announced as healthcare policy to reduce a risk of spectrum of diseases. This paper offers consensus statements on prophylaxis and treatment strategies for vitamin D deficiency in Poland.


Assuntos
Suplementos Nutricionais , Deficiência de Vitamina D , Humanos , Polônia/epidemiologia , Vitamina D , Deficiência de Vitamina D/tratamento farmacológico , Deficiência de Vitamina D/epidemiologia , Deficiência de Vitamina D/prevenção & controle , Vitaminas , Colecalciferol , Calcifediol
12.
Neuro Endocrinol Lett ; 43(4): 199-207, 2022 Nov 30.
Artigo em Inglês | MEDLINE | ID: mdl-36528881

RESUMO

OBJECTIVE: Multiple endocrine neoplasia type 1 (MEN1) is a rare disorder characterized by tumors in various endocrine glands. It is caused by a mutation in the MEN1 gene. This gene encodes menin, a protein that regulates cell proliferation. The clinical manifestation of the syndrome most commonly involves hyperparathyroidism and pancreatic, pituitary gland, and adrenocortical adenomas. Although the first symptoms of the disease usually occur in patients under the age of 20, the data on MEN1 in children is scarce. Here, we report a case study of a familial MEN1 syndrome with a central nervous system ganglioglioma, a manifestation that has not been characterized so far. CASE REPORT: The diagnosis of a 17-year-old boy with hypoglycemia of unknown origin revealed the presence of a pancreatic tumor. As kidney stone disease and acute pancreatitis were reported in his father, and his asymptomatic sister was initially diagnosed with a pancreatic tumor, a familial MEN1 syndrome was suspected. Indeed, a pathogenic mutation within the MEN1 gene was detected. Further diagnosis revealed primary hyperparathyroidism in both children and their father, which is typical of MEN1. The girl also presented with hydrocephalus caused by ganglioglioma of the central nervous system. Surgical treatment was successfully conducted in both children. CONCLUSIONS: The reported family case provides evidence of the diagnostic and therapeutic difficulties related to the MEN1 syndrome. In children, the benefits of an early surgery should be considered in relation to the risks of possible surgical complications and consequences of a loss of endocrine gland function.


Assuntos
Neoplasias Encefálicas , Ganglioglioma , Neoplasia Endócrina Múltipla Tipo 1 , Neoplasias Pancreáticas , Pancreatite , Masculino , Feminino , Criança , Humanos , Adolescente , Neoplasia Endócrina Múltipla Tipo 1/complicações , Neoplasia Endócrina Múltipla Tipo 1/diagnóstico , Neoplasia Endócrina Múltipla Tipo 1/genética , Doença Aguda , Ganglioglioma/complicações , Neoplasias Pancreáticas/diagnóstico , Neoplasias Pancreáticas/genética , Neoplasias Pancreáticas/complicações , Neoplasias Encefálicas/complicações
13.
Artigo em Inglês | MEDLINE | ID: mdl-36497979

RESUMO

Childhood obesity remains one of the most serious medical challenges of the 21st century. The aim of the study was to obtain epidemiological data on the prevalence of overweight and obesity among 8- and 9-year-old children in Szczecin, and to evaluate the effectiveness of medical intervention in the form of a year of interdisciplinary work with children with excess body weight. The study consisted of two main stages: I-screening, II-intervention. The program was implemented for three consecutive years, starting in 2016-2018. The entire population of 8-9-year-olds in Szczecin is 11,494 children. In the screening part of the study, 4890 children took part, whose parent agreed to participate (42.54%). In the intervention part of the study, we analyzed a group of 515 children. Children were further divided into subgroups according to the number of visits completed. Anthropometric parameters were measured on each visit. The prevalence of overweight and obesity in the screened population was 16.9% and 6.4%, respectively. Statistically significant changes were observed in BMI (Body Mass Index) percentiles and BMI z-scores, as well as WHR (Waist-Hip Ratio) during the one year observation time. The best effects were achieved by the 3rd visit (for the first 6 months of the program). Thereafter, the effects diminished due to the longer interval between the 3rd and 4th visits (6 months). There is the need for long-term programs for the prevention of excessive body weight in children and adolescents with frequent checkpoints.


Assuntos
Obesidade Infantil , Adolescente , Criança , Humanos , Obesidade Infantil/epidemiologia , Aumento de Peso , Índice de Massa Corporal , Sobrepeso/epidemiologia , Antropometria , Peso Corporal
14.
Front Endocrinol (Lausanne) ; 13: 1034148, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36531483

RESUMO

Introduction: Obesity is considered a civilisation disease which increases mortality and impairs quality of life, also among children and adolescents. The prevalence of overweight and obesity is steadily increasing in the developmental age population. Environmental factors are responsible for the main reason of excessive adipose tissue accumulation. Among these, poor eating habits and lack of exercise play the largest role. Familial prevalence of obesity and family dietary patterns also receive significant attention. Many specialists believe that the treatment of obesity should be multidirectional, effective and minimally invasive. Therefore, effective and safe methods are being investigated to effectively reduce body weight and improve eating habits. Dietary education programmes are an alternative to improve the health status of obese and overweight children and adolescents. To be fully effective, these programmes should involve the whole family. Aim of the study: In the face of constantly increasing prevalence of overweight and obesity in the developmental age population and the lack of effective methods to combat its occurrence, it seems appropriate to try to assess the effectiveness of a one-year-long dietary education of children and adolescents with excess body weight on their eating habits and the eating habits of their mothers, as well as selected anthropometric and biochemical parameters in these children using a simple educational tool, the Healthy Food Pyramid. Patients and methods: The study group consisted of 68 children with overweight and obesity, patients of the Department of Paediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age of the Pomeranian Medical University in Szczecin. The study used a proprietary questionnaire to assess dietary habits. Patients participated in six individual educational meetings over a twelve-month period. Eating habits were assessed in children and mothers before and after dietary intervention. Sixty-seven questionnaires before and after the dietary intervention were used for analysis. Results: Sixty-eight children completed the study. Those who did not complete the study came from families living in rural areas and their mothers mostly had primary or vocational education. One-year dietary education resulted in significant improvements in body weight, waist and hip circumference, WHtR and selected measured carbohydrate and lipid metabolism parameters with the exception of total cholesterol. The one-year dietary intervention did not have the same effect on the change in dietary habits in children and in their mothers.


Assuntos
Sobrepeso , Qualidade de Vida , Adolescente , Humanos , Criança , Sobrepeso/epidemiologia , Comportamento Alimentar , Aumento de Peso , Obesidade/epidemiologia , Peso Corporal
15.
Int J Mol Sci ; 23(24)2022 Dec 13.
Artigo em Inglês | MEDLINE | ID: mdl-36555435

RESUMO

Abnormalities in hematological parameters of peripheral blood have been noted in patients with endogenous Cushing's Syndrome (CS) in the corticotropin (ACTH)-dependent and ACTH-independent forms. Nevertheless, the exact mechanism of glucocorticoids (GCs) action on human hematopoiesis is still not entirely clear. The aim of the study was to determine whether endogenous excessive production of GCs could affect apoptosis of CD34+ cells enriched in hematopoietic stem and progenitor cells (HSPCs) collected from the peripheral blood of newly diagnosed CS patients. Flow cytometry, Annexin-V enzyme-linked immunosorbent assay, TUNEL assay, real-time quantitative PCR, and microarray RNA/miRNA techniques were used to characterize CS patients' HSPCs. We found that the glucocorticoid receptor (GR) protein expression levels in CS were higher than in healthy controls. A complex analysis of apoptotic status of CS patients' HSPC cells showed that GCs significantly augmented apoptosis in peripheral blood-derived CD34+ cells and results obtained using different methods to detect early and late apoptosis in analyzed cell population were consistent. CS was also associated with significant upregulation in several members of the BCL-2 superfamily and other genes associated with apoptosis control. Furthermore, global gene expression analysis revealed significantly higher expression of genes associated with programmed cell death control in HSPCs from CS patients. These findings suggest that human endogenous GCs have a direct pro-apoptotic activity in hematopoietic CD34+ cells derived from CS subjects before treatment.


Assuntos
Síndrome de Cushing , Glucocorticoides , Humanos , Glucocorticoides/farmacologia , Glucocorticoides/metabolismo , Síndrome de Cushing/metabolismo , Antígenos CD34/metabolismo , Células-Tronco Hematopoéticas/metabolismo , Apoptose/fisiologia , Receptores de Glucocorticoides/genética , Receptores de Glucocorticoides/metabolismo , Hormônio Adrenocorticotrópico/metabolismo
16.
Neuro Endocrinol Lett ; 43(5): 247-256, 2022 Dec 20.
Artigo em Inglês | MEDLINE | ID: mdl-36584401

RESUMO

OBJECTIVE: The etiology of type 1 diabetes mellitus (DM1) is not fully understood. Some studies indicate an excess or deficiency of certain trace elements may affect glucose and insulin metabolism. This study aimed to assess the concentrations of trace elements in children with newly diagnosed DM1. The study group comprised 35 children aged 3-17 years (mean, 8.83±3.55 years). Serum concentrations of selenium, zinc, copper, and arsenic were determined at the time of diagnosis, after ~2 weeks (during insulin treatment), and after 6 months. No trace element deficiency was observed. Selenium levels were increased at all time points (77.61±14.03 µg/l; 70.42±11.04 µg/l; 75.79±12.89 µg/l). Arsenic levels were increased at the time of discharge (0.30±0.24 µg/l) and upon 6 months control visit (0.67±1.98 µg/l) for DM1. Copper levels were elevated at the time of diagnosis (1333±244 µg/l). No significant differences were observed in zinc concentrations between study and control group or between time points. Trace elements in the environment, especially selenium, may increase the incidence of DM1, although further research is required to confirm this association.


Assuntos
Arsênio , Diabetes Mellitus Tipo 1 , Insulinas , Selênio , Oligoelementos , Criança , Humanos , Cobre , Diabetes Mellitus Tipo 1/diagnóstico , Zinco
17.
Front Endocrinol (Lausanne) ; 13: 992264, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36387906

RESUMO

Nonalcoholic fatty liver disease (NAFLD) is a growing health problem in the pediatric population, due to the constantly increasing percentage of children with obesity. The objective of the study was to assess the occurrence of NAFLD based on ultrasound (USG) analysis and the use of alanine aminotransferase (ALT) in children with overweight and obesity depending on glucose tolerance. Medical records of 228 consecutive patients aged 2-18 years with overweight and obesity were reviewed retrospectively. Based on the oral glucose tolerance test children were divided into groups according to the severity of carbohydrate metabolism disorders. ALT, lipid parameters and insulin sensitivity indices HOMA, Matsuda and Quicki were analyzed. NAFLD was diagnosed (based on the USG) in 51 patients (23.61%) - the incidence in the impaired glucose tolerance (IGT) and type 2 diabetes (T2DM) group was significantly higher when compared to ones without glucose intolerance. Because of extreme values of metabolic parameters in TDM2 children being outliers, they were not considered in the statistical analysis of the study. 22 (11.58%) patients had elevated ALT values, of which 12 (54.55%) had hepatic steatosis features on ultrasound. 72.73% (n=32) patients with fatty liver features on USG had ALT values considered normal with cut-off point 42 U/l accepted in this study. Almost every fourth obese child in the study group presents features of fatty liver in ultrasound examination. Although ultrasound is not recommended by North American Society For Pediatric Gastroenterology, Hepatology &Nutrition(NASPGHAN) for the diagnosis of NAFLD in children, it allows identifying a high percentage of children with features of fatty liver. This percentage increases significantly in children with glucose intolerance.


Assuntos
Diabetes Mellitus Tipo 2 , Intolerância à Glucose , Hepatopatia Gordurosa não Alcoólica , Humanos , Criança , Hepatopatia Gordurosa não Alcoólica/diagnóstico por imagem , Hepatopatia Gordurosa não Alcoólica/epidemiologia , Sobrepeso , Intolerância à Glucose/epidemiologia , Estudos Retrospectivos , Obesidade/complicações , Obesidade/epidemiologia
18.
Nutrients ; 14(18)2022 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-36145182

RESUMO

Childhood obesity is one of the most important problems of public health. Searching was conducted by using PubMed/MEDLINE, Cochrane Library, Science Direct, MEDLINE, and EBSCO databases, from January 2022 to June 2022, for English language meta-analyses, systematic reviews, randomized clinical trials, and observational studies from all over the world. Five main topics were defined in a consensus join statement of the Polish Society of Pediatrics, Polish Society for Pediatric Obesity, Polish Society of Pediatric Endocrinology and Diabetes and Polish Association for the Study on Obesity: (1) definition, causes, consequences of obesity; (2) treatment of obesity; (3) obesity prevention; (4) the role of primary care in the prevention of obesity; (5) Recommendations for general practitioners, parents, teachers, and regional authorities. The statement outlines the role of diet, physical activity in the prevention and treatment of overweight and obesity, and gives appropriate recommendations for interventions by schools, parents, and primary health care. A multisite approach to weight control in children is recommended, taking into account the age, the severity of obesity, and the presence of obesity-related diseases. Combined interventions consisting of dietary modification, physical activity, behavioral therapy, and education are effective in improving metabolic and anthropometric indices. More actions are needed to strengthen the role of primary care in the effective prevention and treatment of obesity because a comprehensive, multi-component intervention appears to yield the best results.


Assuntos
Diabetes Mellitus , Obesidade Infantil , Pediatria , Criança , Diabetes Mellitus/epidemiologia , Diabetes Mellitus/prevenção & controle , Humanos , Idioma , Obesidade Infantil/epidemiologia , Obesidade Infantil/prevenção & controle , Médicos de Família , Polônia
19.
Artigo em Inglês | MEDLINE | ID: mdl-36141955

RESUMO

Obesity is regarded as a civilization disease that increases mortality and the risk of cardiovascular complications. In Poland, the prevalence of excess body weight in the paediatric population has been steadily increasing. The consequences of excess body weight in the developmental age population affect children's health and destabilize their development. Appropriate dietary interventions are the main non-invasive methods of preventing and treating obesity. They should be aimed at the whole family, optimally with the use of simple tools such as the Healthy Eating Pyramid. Due to the increasing prevalence of excess body weight in the developmental age population and the problems with the treatment of this condition, studies were undertaken in order to determine the impact of a dietary intervention on anthropometric and biochemical parameters in children with excess body weight. A total of 68 (72.3%) children completed the study. Based on BMI SDS, 59 (86.8%) were diagnosed with obesity and 9 (13.2%) with overweight. After the completion of the one-year dietary educational program, a significant improvement in weight loss, waist and hip circumference, as well as the value of the WHtR index was demonstrated. There was also a significant increase in the percentage of muscle tissue and a decrease in the content of adipose tissue in the bodies of examined children. A significant improvement in the parameters of carbohydrate metabolism, and almost all parameters of lipid metabolism, except for total cholesterol. A significant (by 28.0%) reduction in the incidence of fatty liver was also noted. No influence of dietary education on arterial blood pressure was observed.


Assuntos
Obesidade , Sobrepeso , Antropometria , Índice de Massa Corporal , Peso Corporal/fisiologia , Criança , Colesterol , Humanos , Obesidade/epidemiologia , Sobrepeso/terapia , Aumento de Peso
20.
Pediatr Diabetes ; 23(7): 944-955, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-35700323

RESUMO

BACKGROUND: There are several observations that the onset of coronavirus 19 (COVID-19) pandemic was associated with an increase in the incidence of diabetic ketoacidosis (DKA). However, due to heterogeneity in study designs and country-specific healthcare policies, more national-level evidence is needed to provide generalizable conclusions. OBJECTIVE: To compare the rate of DKA in Polish children diagnosed with type 1 diabetes (T1D) between the first year of COVID-19 pandemic (15 March 2020 to 15 March 2021) and the preceding year (15 March 2019 to 15 March 2020). METHODS: Reference centers in 13 regions (covering ~88% of Polish children) retrospectively reported all new-onset T1D cases in children from assessed periods, including DKA status at admission, administered procedures and outcomes. Secondly, we collected regions' demographic characteristics and the daily-reported number of COVID-19-related deaths in each region. RESULTS: We recorded 3062 cases of new-onset T1D (53.3% boys, mean age 9.5 ± 4.3 years old) of which 1347 (44%) had DKA. Comparing pre- and post-COVID-19 period, we observed a significant increase in the rate of DKA (37.5%-49.4%, p < .0001). The fraction of moderate (+5.4%) and severe (+3.4%) DKA cases increased significantly (p = .0089), and more episodes required assisted ventilation (+2.1%, p = .0337). Two episodes of DKA during 2020/2021 period were fatal. By region, change in DKA frequency correlated with initial COVID-19 death toll (March/April 2020) (R = .6, p = .0287) and change in T1D incidence (R = .7, p = .0080). CONCLUSIONS: The clinical picture of new-onset children T1D in Poland deteriorated over a 2-year period. The observed increase in the frequency of DKA and its severity were significantly associated with the overlapping timing of the COVID-19 epidemic.


Assuntos
COVID-19 , Diabetes Mellitus Tipo 1 , Cetoacidose Diabética , Adolescente , COVID-19/complicações , COVID-19/epidemiologia , Criança , Pré-Escolar , Estudos Transversais , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/diagnóstico , Diabetes Mellitus Tipo 1/epidemiologia , Cetoacidose Diabética/complicações , Cetoacidose Diabética/etiologia , Feminino , Humanos , Incidência , Masculino , Pandemias , Polônia/epidemiologia , Estudos Retrospectivos
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