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1.
Eur J Pediatr ; 2024 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-38877324

RESUMO

Severe obesity defined as BMI value corresponding to an adult > 40 kg/m2 affects 1-5% of children and adolescents in Europe. The purpose of this study was to assess the occurrence of cardiovascular risk factors in children and adolescents with severe obesity. The analysis included 140 patients (75 female) at the mean age of 14 ± 2.1 SD (range 10-18) years (all recruited in 4 regional reference centers in Poland). Severe obesity was defined as BMI > 35 kg/m2 (children 6-14 years), and BMI > 40 kg/m2 (> 14 years). Fasting plasma samples have been obtained in all patients, and OGTT was performed in all patients. The metabolic risk factors were defined as high blood pressure (BP > 90 percentile for height, age, and sex), HDL cholesterol < 1.03 mmol/L, TG ≥ 1.7 mmol/L, and hyperglycemic state (fasting blood glucose > 5.6 mmol/L, or blood glucose 120' after oral glucose load > 7.8 mmol/L). Additionally, the MetS z-score was calculated using Metabolic Syndrome Severity Calculator. One hundred twenty-four (89%) participants presented with high BP, 117 (84%) with abnormal lipid profile, and 26 with the hyperglycemic. Only 12 (9%) were free of metabolic complications. More than 60% of patients had more than one cardiovascular risk factor. The high BP was significantly associated with the severity of obesity (F = 9.9, p = 0.002). Patients with at least one metabolic complication presented with significantly younger age of the onset of obesity (the mean age of the patients with no overt obesity complications was 10 years, while the mean age of those who presented at least one was 4.7 ± 3.5 SD years (p = 0.002)). A significant positive association between in the value of the Mets BMI z-score with age was observed (R = 0.2, p < 0.05). There were no differences between girls and boys regarding Mets BMI z-score (1.7 ± 0.8 vs 1.7 ± 0.7, p = 0.8).Conclusions: The most common metabolic risk factor in children and adolescents with severe obesity was high BP. The most important factor determining presence of obesity complications, and thus the total metabolic risk, seems to be younger (< 5 years) age of onset of obesity. What is Known? • It is estimated that 1-5% of children and adolescents in Europe suffer from severe obesity corresponding to an adult BMI > 40 kg/m2, and it is the fastest growing subcategory of childhood obesity. • Children with severe obesity face substantial health risk that may persist into adulthood, encompassing chronic conditions, psychological disorders and premature mortality. What is new: • The most common complication is high BP that is significantly associated with the severity of obesity (BMI z-score), contrary to dyslipidemia and hyperglycemic state, which do not depend on BMI z-score value. • The most important factor determining presence of obesity complications, and thus the total metabolic risk, seems to be younger (< 5 years) age of onset of obesity.

2.
Front Endocrinol (Lausanne) ; 13: 972174, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36479220

RESUMO

Severe early-onset obesity (SEOO) in children is a common feature of monogenic obesity. Nowadays, mutations in at least 50 genes are known to be related to monogenic obesity, and many others are tested. Part of them is involved in the leptin-proopiomelanocortin pathway. The aim of the project is to establish the Polish database of severely obese children and adolescents and to evaluate the prevalence of monogenic forms of obesity in this cohort, with a special focus on leptin-proopiomelanocortin pathway abnormalities. The secondary project aim is to identify new population-specific mutations in obesity-related genes in severely obese Polish children and adolescents. This is a prospective multi-center clinical study performed in four Polish centers. The estimated sample size is 500 patients aged 1-18 years, with severe obesity, hyperphagia, and food-seeking behaviors. In each patient, the medical history regarding the obesity duration in the patient and obesity and its complication existence in the family will be taken. Next, the questionnaire regarding the symptom characteristic of specific mutations, which we are going to test, will be performed. Hyperphagia will be assessed on the basis of age-specific questionnaires. The physical examination with anthropometric measurement, basic biochemical and hormonal tests, and leptin and biologically active leptin measurements will be performed. Finally, genetic analysis will be performed using next-generation sequencing with sequencing libraries prepared to include obesity-related genes. The genotyping findings will be confirmed with the use of classic sequencing (Sanger's method). In the future, the pathogenicity of new mutations in obesity-related genes identified in our cohort is planned to be confirmed by functional testing in vitro. Nowadays, there are no data regarding the prevalence of severe obesity or monogenic obesity in Polish children. This project has the potential to improve understanding of obesity etiology and may contribute to implementing attribute mutation-specific treatment. Moreover, it may lead to a finding of new, population-specific mutations related to SEOO.


Assuntos
Obesidade Mórbida , Obesidade Infantil , Criança , Humanos , Adolescente , Estudos Prospectivos , Obesidade Infantil/epidemiologia , Obesidade Infantil/genética
3.
Children (Basel) ; 9(11)2022 Oct 30.
Artigo em Inglês | MEDLINE | ID: mdl-36360388

RESUMO

BACKGROUND: The prevalence, social consequences and complicated pathogenesis make headaches in children a significant clinical issue. Studies in adults suggest that primary headaches could be the first sign of atherosclerosis and platelet aggregation. AIM: To analyze the blood levels of selected biomarkers of vascular changes potentially associated with a higher risk of atherosclerosis in children with primary headaches. METHODS: The medical family history, brain-derived neurotrophic factor (BDNF), soluble CD40 ligands (sCD40L), endothelial plasminogen activator inhibitor (PAI I), vascular endothelial growth factor (VEGF) and intima-media thickness (IMT) measurements were performed in the 83 children (52 with primary headaches, 31 controls). Selected factors were compared with basic laboratory parameters that are potentially related to atherosclerosis: C-reactive protein (CRP) and lipid concentration. RESULTS: There were no significant differences in biomarkers of vascular changes in the study group and controls in general. In the study group, boys had a higher BDNF level than girls (p = 0.046). Normal-weight migraine patients had significantly higher PAI-I levels than controls (p = 0.034). A positive correlation between PAI-1 and triglycerides (TG) was observed. IMT did not differ between children with primary headaches and controls; however, IMT showed a positive correlation with BMI z-score and TG. Children with headaches had, more often, a positive family history of cardiovascular disease (p = 0.049). CONCLUSIONS: There were no clear clinical changes indicative of atherosclerosis in the study population. However, some trends are visible. Primary headaches are more often related to a family history of cardiovascular diseases. IMT is associated with TG levels and BMI z-score. The measured biomarkers of vascular changes show mutual relations.

4.
Pediatr Endocrinol Diabetes Metab ; 28(2): 108-113, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35620923

RESUMO

INTRODUCTION: There is a significant correlation between elevated LDL cholesterol (LDL-C) levels sustained from childhood and future vascular disease. The study aimed to evaluate the effectiveness and safety of the therapy chosen for children with lipid disorders. MATERIAL AND METHODS: The study group consisted of 37 children with increased LDL-C (13 boys) aged 8.99 ±4.03 years. After 6 months of behavioral treatment, study group was divided into G1 (n = 24) which continued non-pharmacological treatment supported by dietary supplements and G2 (n = 13) in which statin (5-10 mg/day) was added to non-pharmacological treatment. Analysis included: BMI Z-score, total cholesterol (TCh), LDL-C, HDL cholesterol (HDL-C) and triglycerides (TG) measured at several time points. RESULTS: The concentrations of TCh and LDL-C before treatment were significantly higher in G2 than in G1 (p < 0.001). Due to the treatment, these differences were no longer noticeable at the last visit. In G1 and G2 concentrations of TCh and LDL-C were reduced significantly, greater reduction after the treatment in TCh and LDL-C was observed in G2 than in G1. Moreover, in G1 we noticed reduction of TG after treatment (p < 0.05). The BMI Z-score did not change significantly through the treatment in both groups. G1 also showed a significant negative correlation between BMI Z-score and HDL-C before and after treatment (r = -0.57, p = 0.009; r = -0.52, p = 0.02). Same relationship was noticed also in G2 after treatment (r = 0.67, p = 0.05). CONCLUSIONS: In children with dyslipidemia, regardless of its background, statin therapy is the most effective in lowering LDL-C. However, therapy with lipids-lowering supplements seems to be safe and effective.


Assuntos
Inibidores de Hidroximetilglutaril-CoA Redutases , Adolescente , Criança , HDL-Colesterol , LDL-Colesterol , Suplementos Nutricionais , Feminino , Humanos , Inibidores de Hidroximetilglutaril-CoA Redutases/uso terapêutico , Masculino , Triglicerídeos
5.
Endokrynol Pol ; 73(2): 173-300, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35593680

RESUMO

The guidelines Thyroid Cancer 2022 are prepared based on previous Polish recommendations updated in 2018. They consider international guidelines - American Thyroid Association (ATA) 2015 and National Comprehensive Cancer Network (NCCN); however, they are adapted according to the ADAPTE process. The strength of the recommendations and the quality of the scientific evidence are assessed according to the GRADE system and the ATA 2015 and NCCN recommendations. The core of the changes made in the Polish recommendations is the inclusion of international guidelines and the results of those scientific studies that have already proven themselves prospectively. These extensions allow de-escalation of the therapeutic management in low-risk thyroid carcinoma, i.e., enabling active surveillance in papillary microcarcinoma to be chosen alternatively to minimally invasive techniques after agreeing on such management with the patient. Further extensions allow the use of thyroid lobectomy with the isthmus (hemithyroidectomy) in low-risk cancer up to 2 cm in diameter, modification of the indications for postoperative radioiodine treatment toward personalized approach, and clarification of the criteria used during postoperative L-thyroxine treatment. At the same time, the criteria for the preoperative differential diagnosis of nodular goiter in terms of ultrasonography and fine-needle aspiration biopsy have been clarified, and the rules for the histopathological examination of postoperative thyroid material have been updated. New, updated rules for monitoring patients after treatment are also presented. The updated recommendations focus on ensuring the best possible quality of life after thyroid cancer treatment while maintaining the good efficacy of this treatment.


Assuntos
Radioisótopos do Iodo , Neoplasias da Glândula Tireoide , Adulto , Humanos , Polônia , Qualidade de Vida , Sociedades Científicas , Neoplasias da Glândula Tireoide/diagnóstico , Neoplasias da Glândula Tireoide/cirurgia , Tireoidectomia/métodos
6.
Ginekol Pol ; 93(12): 948-953, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35072232

RESUMO

OBJECTIVES: Both polycystic ovary syndrome (PCOS) and autoimmune thyroiditis (AT) are reported to be common endocrinopathies. In recent years the number of publications assessing the coexistence of these two disease entities in adult women has been growing. There are many suggestions regarding pathophysiological mechanisms that can cause the relationship between AT and PCOS. However, there is still a lack of research among adolescent girls. The aim of the study was to analyze the occurrence of autoimmune thyroiditis in adolescent girls with PCOS. MATERIAL AND METHODS: The study group included 80 girls diagnosed with PCOS (chronological age: 16.54 ± 1.00 years, BMI: 22.80 ± 3.27 kg/m2), and the control group - 64 regularly menstruating girls (chronological age: 16.71 ± 0.63 years, BMI: 24.8 ± 5.2 kg/m2). The thyroid function and morphology were assessed based on the concentration of thyroid stimulating hormone (TSH), free thyroxine (fT4), anti thyroid peroxidase (anti-TPO), anti-thyroglobulin (anti-TG) antibodies and ultrasound scan of the thyroid gland. RESULTS: AT was diagnosed in 18 (22.5%) girls from the study group and nine (14.06%) from the control group (p > 0.05). Positive anti-TPO titer was observed more often in the study group [21 patients (26.25%)] than in the control group [9 girls (14.06%)] (p = 0.054). Moreover, an abnormal ultrasound scan of the thyroid gland characteristic for AT was found in 18 girls from the study group (22.50%) and 8 girls from the control group (12.50%) (p > 0.05). CONCLUSIONS: The results of the analyzed studies do not confirm a significant relationship between PCOS and AT in adolescent girls. However, in the group of girls with PCOS, autoimmune process exponents were more frequent (anti-TPO), reaching the borderline level of statistical significance.


Assuntos
Síndrome do Ovário Policístico , Tireoidite Autoimune , Adolescente , Feminino , Humanos , Masculino , Síndrome do Ovário Policístico/epidemiologia , Síndrome do Ovário Policístico/complicações , Prevalência , Tireoidite Autoimune/epidemiologia , Tireoidite Autoimune/complicações , Tireotropina , Ultrassonografia
7.
Brain Sci ; 11(4)2021 Mar 26.
Artigo em Inglês | MEDLINE | ID: mdl-33810303

RESUMO

Background: Abnormalities in levels of lipid parameters are one of the main causes of cardiovascular and cerebrovascular disease in adults. There are limited data on the role of disturbances of lipid metabolism in the etiopathogenesis of arterial ischemic stroke (AIS) in children and the results provided are ambiguous. The aim of the study was to compare the levels of lipid parameters (total cholesterol [TC], triglycerides [TG], high-density lipoprotein [HDL] and low-density lipoprotein [LDL]) between children with AIS, children with headache and healthy children. In addition, we performed meta-analysis of available data on lipid parameters in young patients with AIS. Methods: We retrospectively analyzed 218 children hospitalized between 2002 and 2018 in the Upper-Silesian Child's Health Center (n = 82 children with AIS, n = 45 children with headache, n = 91 healthy children) with available data on lipid levels, i.e., TC, TG, and HDL. The levels of LDL, non-HDL cholesterol, and a very-low density lipoprotein (VLDL) were calculated. The ratios of TC/HDL, TG/HDL and LDL/HDL were also assessed. Data between cases and controls were analyzed using STATISTICA 13.0 whereas meta-analysis was performed with RevMan version 5.4 software. Results: Children with headache were significantly older than children with AIS (p = 0.001). Ten percent of children with AIS had posterior stroke. The mean TC level was significantly higher in the AIS children than in controls or in children with headache. Mean TG and VLDL levels were significantly different between all groups (p < 0.001 each). The hypertriglyceridemia was more prevalent in AIS children than in children with headache (39% vs. 13%, OR = 4.16 95% CI 1.58-10.94, p = 0.004). Similarly, the frequency of dyslipidemia was higher in children with AIS compared to children with headache (38% vs. 22%, OR = 2.13 95% CI 0.93-4.89, p = 0.078). The meta-analysis was conducted based on data from 4 studies (3 studies published previously plus the results we obtained in the present case-control analysis) with total number of 236 young patients with AIS and 272 healthy controls. Significant Standard Mean Difference (SMD) was found in triglycerides level between young patients with AIS and controls (0.78 95%CI 0.30-1.26 p = 0.002). Conclusions: Lipid abnormalities, especially levels of triglycerides, seem to be of particular importance in children with AIS, as confirmed in meta-analysis. The results of the present study may be a significant contribution to the further research on the role of lipid metabolism disorders in the development of childhood stroke.

8.
Children (Basel) ; 7(10)2020 Oct 04.
Artigo em Inglês | MEDLINE | ID: mdl-33020432

RESUMO

Headaches are common complaints in children. The International Classification of Headache Disorders, 3rd edition (beta version), defines more than 280 types of headaches. Primary headaches refer to independent conditions that cause pain and include migraine, tension-type headaches (TTH), and trigeminal autonomic cephalalgias (TACs). Several agents are involved in the pathogenesis of headaches. The factors associated with predisposition to atherosclerosis seem to be particularly important from the clinical point of view. The influence of obesity on the incidence of headaches has been well established. Moreover, idiopathic headaches, especially migraine, are thought to be one of the first signs of disorders in lipid metabolism and atherosclerosis. The risk of migraine increases with increasing obesity in children. Another factor that seems to be involved in both obesity and headaches is the adiponectin level. Recent data also suggest new potential risk factors for atherosclerosis and platelet aggregation such as brain-derived neurotrophic factor (BDNF), sCD40L (soluble CD40 ligand), serpin E1/PAI I (endothelial plasminogen activator inhibitor), and vascular endothelial growth factor (VEGF). However, their role is controversial because the results of clinical studies are often inconsistent. This review presents the current knowledge on the potential markers of atherosclerosis and platelet aggregation, which may be associated with primary headaches.

9.
Artigo em Inglês | MEDLINE | ID: mdl-32564582

RESUMO

INTRODUCTION: Diagnosis of growth hormone deficiency (GHD) in children with short stature, whose height is below -2SD for the population norm, is based on the assessment of growth hormone (GH) peaks in stimulation tests. However, cut-off values for GH secretion are arbitrary and vary in different centres. Indications for recombinant GH therapy remain disputable in children with GH concentrations between 5 and 10 ng/ml (pGHD). AIM OF THE STUDY: The aim of our study was to assess the effects of rhGH therapy in children with transient pGHD deficiency compared to untreated children with idiopathic short stature (ISS). MATERIAL AND METHODS: The study group comprised 54 patients at the mean age of 13.5 (SD 2.36) years, who were diagnosed as pGHD and treated with rhGH. The control group comprised 32 subjects with ISS matched for sex and age, untreated with rhGH. RESULTS: Mean final height was within the normal range for population norms in both groups. The average height gain was statistically significant at -1.3 SD (p < 0.001) for the study group and -1.02 SD (p ≤ 0.001) for the control group. However after exclusion of children with familial short stature (FSS) the height gains were, respectively, 1.41 SD ±0.67 for the study group and 1.22 SD ±0.77 for the control group, without statistical significance. CONCLUSIONS: The results of our study did not show beneficial effects of rhGH treatment in children with pGHD as compared to untreated ISS subjects. Therefore, it is necessary to determine criteria other than arbitrarily established GH concentration for starting rhGH treatment in children with pGHD.


Assuntos
Deficiências Nutricionais/sangue , Deficiências Nutricionais/diagnóstico , Transtornos do Crescimento/diagnóstico , Transtornos do Crescimento/tratamento farmacológico , Hormônio do Crescimento/sangue , Hormônio do Crescimento/deficiência , Hormônio do Crescimento Humano/uso terapêutico , Adolescente , Estatura/efeitos dos fármacos , Criança , Feminino , Humanos , Masculino , Polônia , Estudos Retrospectivos , Resultado do Tratamento
10.
J Pediatr Endocrinol Metab ; 33(2): 255-263, 2020 Feb 25.
Artigo em Inglês | MEDLINE | ID: mdl-31927523

RESUMO

Background Severe early-onset obesity (SEOO) in children is a common feature of monogenic obesity. Gene defects of the leptin-melanocortin pathway can be analysed biochemically and genetically. The aim of this study was to search for children with leptin deficiency or biologically inactive leptin in a cohort of children with SEOO and to study associations between leptin parameters and anthropometric data. Methods The cohort included n = 50 children with SEOO (22 boys) who were recruited at one of four study centres (Germany: Ulm; Poland: Katowice, Szczecin, Rzeszow) between October 2015 and October 2017. Weight (kg) and height (m) were measured, Tanner stage was obtained and a fasting serum blood sample was taken. Serum levels of total leptin (LEP, ng/mL), biologically active leptin (bioLEP, ng/mL) and soluble leptin receptor (sLEPR, ng/mL) were measured. The body mass index (BMI [kg/m2]), BMI z-score (World Health Organization [WHO]), quotient of bioLEP/LEP and leptin-standard deviation score (LEP-SDS) (Tanner stage, BMI and sex-adjusted) were calculated. Results We did not find any child with leptin deficiency or biologically inactive leptin in our cohort. The serum LEP and bioLEP levels were strongly correlated with age (r = 0.50, p < 0.05) and BMI (r = 0.70; p < 0.0001). Girls had higher LEP and bioLEP levels (49.7 ± 35.9 vs. 37.1 ± 25.5 ng/mL, p > 0.05) as well as lower LEP-SDS than boys (-1.77 ± 2.61 vs. -1.40 ± 2.60, p > 0.05). sLEPR levels were negatively correlated with BMI values (r = -0.44; p < 0.05), LEP (r = -0.39; p < 0.05) and bioLEP levels (r = -0.37; p < 0.05). Interestingly, there was a strong inverse relationship between LEP-SDS and BMI (r = -0.72, p < 0.001). Conclusions In this cohort with SEOO, we identified no new cases of children with leptin deficiency or bioinactive leptin. A strong negative correlation between the LEP-SDS and BMI values could be interpreted as relative leptin deficiency in children with SEOO. In case this hypothesis can be confirmed, these children would benefit from a substitution therapy with methionyl human leptin (metreleptin™).


Assuntos
Índice de Massa Corporal , Leptina/sangue , Leptina/deficiência , Obesidade Infantil/epidemiologia , Índice de Gravidade de Doença , Idade de Início , Antropometria , Biomarcadores/sangue , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Seguimentos , Alemanha/epidemiologia , Humanos , Masculino , Obesidade Infantil/sangue , Polônia/epidemiologia , Prognóstico , Receptores para Leptina/metabolismo
11.
Artigo em Inglês | MEDLINE | ID: mdl-31417494

RESUMO

Background: Turner Syndrome is associated with an increased risk of autoimmune diseases, such as autoimmune thyroiditis, coeliac disease, type 1 diabetes mellitus, inflammatory bowel disease, alopecia areata, or vitiligo. The presence of isochromosome iXq and exposure to estradiol may contribute to the development of the autoimmune process. The aim of this study was to determine the prevalence of autoimmune diseases in a group of TS patients and to assess the impact of karyotype and puberty on the development of autoimmune diseases. Patients and Methods: The analysis encompassed clinical and biochemical data of 134 patients treated between 2001 and 2018. All the patients were examined for autoimmune disease symptoms and tested for the presence of antithyroperoxidase (anti-TPO) and antithyreoglobulin (anti-TG) antibodies. In 73 of the patients, anti-transglutaminase (anti-tTG) antibodies were measured. Thyroid function was assessed by measuring TSH and fT4 levels. Results: The mean follow-up was 5.7 ± 3 years. An autoimmune disease was diagnosed in 46 (34.3%) patients: 39 (29.1%) had only one disorder, whilst 7 (5.2%) presented two disorders. The most common disorder, observed in 40 (29.9%) patients, was thyroid autoimmunity. Hashimoto disease was diagnosed in 20 (14.9%) patients. Of the 73 patients tested for coeliac disease, 4 (5.5%) had anti-tTG and 2 (2.7%) presented overt coeliac disease. Vitiligo was diagnosed in 3 (2.2%) patients, type 1 diabetes mellitus or psoriasis were diagnosed in 2 (1.5%) patients, whilst alopecia areata or lichen sclerosus were diagnosed in 1 (0.7%) patient. The impact of karyotype or estradiol exposure on developing autoimmune diseases were not statistically significant. Conclusions: Our study showed a higher incidence of autoimmune diseases in TS, which is in line with the literature; however, the impact of iXq, or spontaneous/inducted puberty was not confirmed.

12.
Artigo em Inglês | MEDLINE | ID: mdl-31343128

RESUMO

INTRODUCTION: In the light of recent studies, the usefulness of the metabolic syndrome diagnosis in obese pediatric patients seems to be controversial. It leads to the pressing questions, if the metabolic syndrome diagnosis is reflecting risk of the cardiovascular complications in obese chil-dren. AIM OF THE STUDY: To evaluate the incidence of metabolic syndrome in obese children, asses the role of insulin resistance in the metabolic complications and investigate if the diagnosis of MS has a clinical value in that group of patients. MATERIAL AND METHODS: After the retrospective analysis of 588 records of obese children treated in metabolic outpatient clinic, 289 children (145 boys) in the mean age of 11 years, was qualified to the study. Diagnosis of metabolic syndrome was based on IDF 2009 criteria and HOMA-IR was used in the assessment of insulin resistance. RESULTS: Metabolic syndrome was diagnosed in 69 children (24%) including 42 girls (61%, p < 0.05). Mean age was higher (12.4 vs. 10.9, p < 0.05) in patients with metabolic syndrome. Initial BMI Z-score was similar in the both groups (2.93 SD vs. 2.92 SD). However, further follow-up showed significantly (p < 0.001) less effective BMI z-score reduction in patients with metabolic syndrome. Insulin resistance was observed significantly more often in children with metabolic syndrome (77% vs. 35%, p < 0.0001). Moreover, ami-notransferases were significantly higher in boys with metabolic syndrome (AST = 35 vs. 28 U/l, ALT = 38 vs. 23 U/l, p < 0.0001). CONCLUSIONS: The diagnosis of metabolic syndrome in obese children seems to have a predictive value for the clinical practice. Affected children are older and their criteria are present more often in girls. Insulin resistance seems to be an important factor associated with metabolic syn-drome in obese children. The outcomes of behavioral therapy are less effective in children with metabolic syndrome. Affected boys are at higher risk of non-alcoholic fatty liver disease (NAFLD) in the future.


Assuntos
Resistência à Insulina , Síndrome Metabólica/diagnóstico , Obesidade , Adolescente , Criança , Feminino , Humanos , Masculino , Polônia , Estudos Retrospectivos
13.
Artigo em Inglês | MEDLINE | ID: mdl-31343132

RESUMO

Trichorhinophalangeal syndrome (TRPS) is rare genetic disorder with autosomal dominant inheritance. The TRPS1 gene is located on the long arm of the eighth chromosome (8q24.12). The phenotype is variable and presents a wide clinical spectrum. Most cases are characterised by thin, sparse scalp hair, distinctive facial dysmorphism, and various skeletal abnormalities, especially of the hands and feet. Characteristic facial features may include a "pear-shaped" nose, micrognathia, dental anomalies, prominent ears, elongated philtrum, and thin upper vermillion border. In most cases, affected individuals exhibit skeletal abnormalities including brachydactyly and clinodac-tyly, short metacarpals phalanges, short feet and metatarsals, and pectus carinatum and hip joint malformations. Additionally, patients may exhibit short stature. This report presents four cases of TRPS (three sporadic and one familial). Clinical presentation included typical facial features and vari-ous skeletal abnormalities. Some TRPS symptoms may mimic growth hormone deficiency and other endocrine disturbances. The aim of this article is to deliver TRPS symptomatology. The treatment of TRPS is symptomatic and supportive and requires the coordination of several specialists, including paediatricians, endocrinologists, orthopaedic surgeons, dermatologists, and medical rehabilitation and den-tal specialists. In some cases, recombinant growth hormone therapy may be necessary. Genetic counselling may be of benefit for affect-ed individuals and their families.


Assuntos
Dedos/anormalidades , Doenças do Cabelo/diagnóstico , Síndrome de Langer-Giedion/diagnóstico , Nariz/anormalidades , Adolescente , Criança , Pré-Escolar , Feminino , Dedos/patologia , Doenças do Cabelo/genética , Doenças do Cabelo/patologia , Doenças do Cabelo/terapia , Humanos , Síndrome de Langer-Giedion/genética , Síndrome de Langer-Giedion/patologia , Síndrome de Langer-Giedion/terapia , Masculino , Mutação , Nariz/patologia , Fenótipo , Polônia , Proteínas Repressoras/genética
14.
Arch Med Sci ; 15(1): 120-125, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30697261

RESUMO

INTRODUCTION: Elevated lipid concentrations were observed in adults with headaches. However, studies in children are scarce. Recent data suggest new potential risk factors for atherosclerosis, which may be associated with headaches. The aim of the study was to analyse the blood levels of lipids and new markers of atherosclerosis in children with idiopathic headaches. MATERIAL AND METHODS: The study population comprised 65 children (39 with idiopathic headaches and 26 healthy children). Total cholesterol (TC), high-density lipoprotein (HDL), low-density lipoprotein (LDL) cholesterol and triacylglycerol (TG) levels were measured in every patient. Brain-derived neurotrophic factor (BDNF), soluble CD40 ligand (sCD40L), endothelial plasminogen activator inhibitor (serpin E1/PAI I) and vascular endothelial growth factor (VEGF) blood level measurements were performed in 34 children. RESULTS: Children with headaches had higher BMI z-scores (0.2 vs. -1.14; p = 0.006). TC level was lower in patients with headaches (121.04 mg/dl vs. 146.87 mg/dl, p = 0.019). No differences in concentrations of TG, HDL or LDL were found. BDNF was significantly higher in the studied group (171.57 pg/ml vs. 64.04 pg/ml, p = 0.012). The VEGF was higher in boys with headaches than in girls (368.27 pg/ml vs. 142.86 pg/ml, p = 0.011). There were no differences in levels of VEGF, sCD40L or PAI-1 between groups. CONCLUSIONS: Children with headaches have lower total cholesterol and higher BDNF levels than controls. No significant difference in levels of triacylglycerols, HDL cholesterol, LDL cholesterol, VEGF, sCD40L or PAI-1 was found between children with headaches and controls.

15.
Endokrynol Pol ; 70(1): 20-27, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30351442

RESUMO

INTRODUCTION: The objective of this study was to analyse the effects of the first three years of treatment with recombinant human insulinlike growth factor 1 (rhIGF-1) in patients from the Polish population. MATERIAL AND METHODS: Twenty-seven children (22 boys and five girls) aged 2.8 to 16.0 years old were qualified for treatment with rhIGF-1 (mecasermin) in different treatment centres, according to Polish criteria: body height below -3.0 SD and IGF-1 concentration below percentile 2.5 with normal growth hormone (GH) levels. Mecasermin initial dose was 40 µg/kg bw twice a day and was subsequently increased to an average of 100 µg/kg bw twice a day. Body height, height velocity, weight, body mass index (BMI), and adverse events were measured. RESULTS: Mecasermin treatment resulted in a statistically significant increase in body height (1.45 ± 1.06 SD; p < 0.01) and height velocity in comparison with pre-treatment values. The biggest change in height velocity happened during the first year and diminished during subsequent years. Body weight and BMI also increased significantly after treatment (1.16 ± 0.76 SD and 0.86 ± 0.75 SD, respectively; p < 0.01). Eight patients reported adverse events. These were mild and temporary and did not require treatment modification except in two patients. CONCLUSIONS: Treatment with rhIGF-1 was effective and safe in Polish patients with primary IGF-1 deficiency. It had a clear beneficial effect on the height of the patients and significantly accelerated the height velocity, particularly in the first year of treatment.


Assuntos
Transtornos do Crescimento/tratamento farmacológico , Perda Auditiva Neurossensorial/tratamento farmacológico , Fator de Crescimento Insulin-Like I/deficiência , Proteínas Recombinantes/uso terapêutico , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Fator de Crescimento Insulin-Like I/efeitos adversos , Fator de Crescimento Insulin-Like I/uso terapêutico , Masculino , Polônia , Proteínas Recombinantes/efeitos adversos , Resultado do Tratamento
16.
Endokrynol Pol ; 70(1): 124-130, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30450533

RESUMO

INTRODUCTION: Resistance to thyroid hormone (RTHß) is a rare syndrome of impaired tissue responsiveness to thyroid hormones (THs). The disorder has an autosomal dominant or recessive pattern of inheritance. Most of the reported mutations have been detected in the thyroid hormone receptorß gene (THRß). CASE REPORT: Authors present an eight-month-old infant with poor linear growth, decreased body weight, tachycardia, positive family history, and neonatal features suggestive of RTHß. Both our patient and his mother had elevated free thyroxine, free triiodothyronine, and non-suppressed thyrotropin (TSH) concentration. The fluorescent sequencing analysis showed a heterozygous mutation c.728G>A in TRß gene. This pathogenic variant is known to be associated with THR. CONCLUSIONS: The clinical presentation of RTHb is variable, ranging from isolated biochemical abnormalities to symptoms of thyrotoxicosis or hypothyroidism. The syndrome should be suspected in patients with increased serum TH level, accompanied by a normal or elevated TSH concentration. The affected patients require individualised management.


Assuntos
Mutação , Receptores beta dos Hormônios Tireóideos/genética , Síndrome da Resistência aos Hormônios Tireóideos/genética , Análise Mutacional de DNA , Humanos , Lactente , Masculino , Síndrome da Resistência aos Hormônios Tireóideos/sangue , Síndrome da Resistência aos Hormônios Tireóideos/metabolismo , Hormônios Tireóideos/sangue
17.
Endokrynol Pol ; 69(4)2018.
Artigo em Inglês | MEDLINE | ID: mdl-30209800

RESUMO

Polycystic ovary syndrome (PCOS) diagnosis and therapy still arouse a lot of controversy. Each year brings new information, so, having collected the experience of three scientific societies, we present contemporary recommendations concerning PCOS diagnostics and treat-ment. In adult female diagnosis, we still use the Rotterdam criteria, which is two out of three of the follwing characteristics: a) ovulation abnormality, b) clinical or biochemical hyperandrogenism, and c) polycystic ovaries. In the case of teenagers, diagnostic criteria are as follows: menstruation disturbances two years after menarche and clinical or biochemical hyperandrogenism. The presence of polycysti-cally abnormal ovaries is not necessary. The consensus paper presents the threats resulting from imperfect diagnostic methods applied in PCOS (hyperandrogenism diagnostics, ultrasound examination of ovaries). Suggested therapy includes personalised schemes according to the dominant PCOS phenotype, i.e. metabolic, hyperandrogenic, or reproductive ones.


Assuntos
Síndrome do Ovário Policístico/diagnóstico , Síndrome do Ovário Policístico/terapia , Sociedades Médicas , Adolescente , Adulto , Endocrinologia , Feminino , Ginecologia , Humanos , Polônia , Adulto Jovem
18.
Int J Endocrinol ; 2018: 3269618, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30147723

RESUMO

STUDY OBJECTIVE: The objective of this study was to evaluate whether body weight status and clinical hyperandrogenism may influence social competencies and psychological gender features in adolescent girls. DESIGN AND PARTICIPANTS: In 104 adolescent girls, psychological gender inventory (PGI) and social competencies questionnaire (SCQ) (assessing social abilities in three aspects: intimacy (I), social exposure (SE), and assertiveness (AS)) were performed. Subjects were divided into four subgroups: G1-24 nonobese girls without hyperandrogenism, G2-18 obese girls without hyperandrogenism, G3-30 nonobese hyperandrogenic girls, and G4-32 obese girls with hyperandrogenism. RESULTS: There were no significant differences in all parts of SCQ and PGI between the study and control groups. The feminine woman type dominated in all groups; in G3 and G4, masculine woman type appeared more often than in G1 and G2 (13.3% and 12.5% versus 4.0% and 0.0%, resp.). In G4, positive relationship between BMI z-score and SCQ (r = 0.4, p = 0.03) was found. In G1, the relationship was opposite (r = -0.5, p = 0.03). Hirsutism correlated negatively with SCQ (r = -0.5, p = 0.02), I (r = -0.5, p = 0.02), and AS (r = -0.5, p = 0.02) only in G1; in other groups, this relationship was insignificant. In G4, higher testosterone level was associated with lower SCQ (r = -0.5, p = 0.008) and AS (r = -0.5, p = 0.003). In G2, testosterone concentration correlated positively with SCQ (r = 0.6, p = 0.01), SE (r = 0.5, p = 0.02), and AS (r = 0.6, p = 0.02). CONCLUSION: In adolescent girls, neither body weight nor clinical features of hyperandrogenism seem to be the source of evaluated disorders in psychological functioning.

19.
Psychiatr Pol ; 52(2): 387-398, 2018 Apr 30.
Artigo em Inglês, Polonês | MEDLINE | ID: mdl-29975374

RESUMO

OBJECTIVES: To determine the frequency of hospitalizations due to alcohol intoxication (AI) at the Pediatric Health Center, and to attempt to identify factors contributing to the occurrence of intoxication in the population of children and adolescents. METHODS: Medical documentation of 227 patients hospitalized due to AI. 108 (48%) patients were girls and 119 (52%) patients were boys. The mean age of the study group was 14.9 years ±2.1. Data regarding patients, their families and the circumstances of intoxication underwent analysis. RESULTS: Alcohol intoxication constituted 2.8% of all hospitalizations. The number of hospitalizations between 2000 and 2011 showed an increasing tendency with some fluctuations within years. Spirits were predominant alcohol beverages. Over 10% of patients required a short-term hospital stay at the Department of Anesthesiology and Intensive Care. In 13% of children, coexisting medicine or drug intoxication was observed and 10% of patients presented with alcohol-related injury to the head or extremities. Risky sexual behaviors were noted in 25% of girls. The majority of children were raised by two parents who had received primary education. Alcoholism was present in over 20% of the families. In single-parent families, fathers were more frequently absent and a lack of a regular source of income was more often related to mothers. CONCLUSIONS: There are no uniform standards of multi-specialist medical care for children hospitalized due to AI. Identification of children consuming alcohol is recommended. It should be done by primary physicians, pediatricians, teachers and psychologists. Minor patients hospitalized due to AI should be provided with a long-term and comprehensive care.


Assuntos
Intoxicação Alcoólica/diagnóstico , Concentração Alcoólica no Sangue , Criança Hospitalizada/estatística & dados numéricos , Hospitalização/estatística & dados numéricos , Adolescente , Intoxicação Alcoólica/sangue , Criança , Etanol/efeitos adversos , Feminino , Humanos , Masculino , Polônia , Medição de Risco , Distribuição por Sexo
20.
Can J Gastroenterol Hepatol ; 2018: 9465784, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29854716

RESUMO

Background: Nonalcoholic fatty liver disease (NAFLD) is the most common cause of chronic liver disease in obese children. Early diagnosis and treatment are essential for curing or slowing down the disease progression. The aim of the study was to assess the prevalence of NAFLD in this population and to identify anthropometrical and metabolic risk factors for NAFLD prediction and its development. Material and Methods: The study included 108 obese children. Anthropometric measurements, NAFLD diagnosis (based on ALT level and/or liver ultrasound), and metabolic syndrome (MS) components were assessed in all patients. Patients were divided into groups with and without NAFLD. Results: NAFLD was diagnosed in 49 (45%) patients with similar prevalence in boys (27; 55.10%) and girls [22 (44.9%), p = 0.089]. NAFLD patients had significantly greater waist circumference, WHR, and WHtR and significantly higher total cholesterol, triglyceride, and fasting insulin concentrations as well as higher glucose and insulin concentrations in 120 minutes of OGTT and higher HOMA-IR levels compared to group of patients without NAFLD. In NAFLD patients, MS was significantly more likely to be diagnosed than in group without NAFLD (40.82% versus 22.81%, p = 0.04), but among the MS components only hypertriglyceridemia was significantly more frequently diagnosed in the group with NAFLD (p = 0.002). Among analysed parameters the best independent risk factor for NAFLD was fasting insulin concentration with the cut-off point = 18,9 uIU/ml (AUC = 0.829). Conclusions: NAFLD is a very common disease in obese children. NAFLD predictive risk factors include increased waist circumference, elevated WHR and WHtR, and elevated total cholesterol, triglycerides, and fasting insulin as well as elevated glucose and insulin concentration in the OGTT and HOMA-IR index. NAFLD increases the risk of potential cardiovascular complications expressed by diagnosis of metabolic syndrome. The best independent predictive risk factor for diagnosing NAFLD in obese children is fasting insulin > 18.9 uIU/ml.


Assuntos
Adiposidade , Resistência à Insulina , Síndrome Metabólica/epidemiologia , Hepatopatia Gordurosa não Alcoólica/sangue , Hepatopatia Gordurosa não Alcoólica/epidemiologia , Obesidade Infantil/epidemiologia , Adolescente , Glicemia/metabolismo , Estatura , Estudos de Casos e Controles , Criança , Colesterol/sangue , Jejum , Feminino , Humanos , Hipertrigliceridemia/epidemiologia , Insulina/sangue , Masculino , Valor Preditivo dos Testes , Prevalência , Fatores de Risco , Triglicerídeos/sangue , Circunferência da Cintura , Relação Cintura-Quadril
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