Pediatric Endocrinology, Diabetes and Metabolism最新文献_第7页

Predisposition to atherosclerosis in children and adults with trisomy 21: biochemical and metabolomic studies 21三体儿童和成人动脉粥样硬化易感性:生化和代谢组学研究

Pediatric Endocrinology, Diabetes and Metabolism Pub Date : 2023-01-01 DOI: 10.5114/pedm.2023.131162

Marta Hetman, Karolina Mielko, Sylwia Placzkowska, Aleksandra Bodetko, Piotr Młynarz, Ewa Barg

{"title":"Predisposition to atherosclerosis in children and adults with trisomy 21: biochemical and metabolomic studies","authors":"Marta Hetman, Karolina Mielko, Sylwia Placzkowska, Aleksandra Bodetko, Piotr Młynarz, Ewa Barg","doi":"10.5114/pedm.2023.131162","DOIUrl":"https://doi.org/10.5114/pedm.2023.131162","url":null,"abstract":"Introduction Atherosclerosis, a precursor to cardiovascular disease (CVD), is deeply intertwined with lipid metabolism. The metabolic process in the Down syndrome (DS) population remain less explored. Aim of the study: This study examines the lipid profiles of DS in comparison to their siblings (CG), aiming to uncover potential atherosclerotic and CVD risks. Material and methods The study included 42 people with DS (mean age 14.17 years) and the CG – 20 individuals (mean age 15.92 years). Anthropometric measurements: BMI, BMI SDS, and TMI were calculated. Lipid profile (LP) and metabolomics were determined. Results LP: DS display significantly reduced HDL (DS vs. CG: 47±10 vs. 59 ±12 mg/dl; p = 0.0001) and elevated LDL (104 ±25 vs. 90 ±22 mg/dl; p = 0.0331). Triglycerides, APO A1, and APO B/APO A1 ratio corroborate with the elevated risk of CVD in DS. Despite no marked differences in: TCH and APO B, the DS group demonstrated a concerning BMI trend. Of 31 identified metabolites, 12 showed statistical significance (acetate, choline, creatinine, formate, glutamine, histidine, lysine, proline, pyroglutamate, threonine, tyrosine, and xanthine). However, only 8 metabolites passed the FDR validation (acetate, creatinine, formate, glutamine, lysine, proline, pyroglutamate, xanthine). Conclusions Down syndrome individuals show distinct cardiovascular risks, with decreased HDL and increased LDL levels. Combined with metabolomic disparities and higher BMI and TMI, this suggests an increased atherosclerosis risk compared to controls.","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"40 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135706355","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}

引用次数: 0

Availability of psychological care in pediatric diabetes centers - a real need? 儿童糖尿病中心心理护理的可用性——一个真正的需求?

Pediatric Endocrinology, Diabetes and Metabolism Pub Date : 2023-01-01 DOI: 10.5114/pedm.2023.126358

Olga Kamińska-Jackowiak, Anna Malatyńska, Agata Chobot, Katarzyna A Gajewska

引用次数: 0

Subclinical hypothyroidism in children and adolescents as mild dysfunction of the thyroid gland: a single-center study. 儿童和青少年甲状腺功能减退亚临床表现为甲状腺轻度功能障碍：一项单中心研究。

Pediatric Endocrinology, Diabetes and Metabolism Pub Date : 2023-01-01 DOI: 10.5114/pedm.2023.124266

Kamila Szeliga, Aleksandra Antosz, Karolina Skrzynska, Barbara Kalina-Faska, Aneta Gawlik

{"title":"Subclinical hypothyroidism in children and adolescents as mild dysfunction of the thyroid gland: a single-center study.","authors":"Kamila Szeliga, Aleksandra Antosz, Karolina Skrzynska, Barbara Kalina-Faska, Aneta Gawlik","doi":"10.5114/pedm.2023.124266","DOIUrl":"https://doi.org/10.5114/pedm.2023.124266","url":null,"abstract":"Introduction: Subclinical hypothyroidism (SH) is a biochemical diagnosis made when a serum thyroid-stimulating hormone (TSH) is ele-vated with circulating thyroid hormone levels within their reference ranges.Aim of the study: Aim of our prospective non-randomized study was to evaluate the course of SH.Material and methods: All patients with suspicion of SH referred to the Endocrinology Outpatient Clinic between 2014 and 2018 were recruited to prospective study.Results: A total of 130 patients with SH were recruited for this study. Thirty-five (26.9%) patients were followed up without levothy-roxine (L-T4) (SH-T0 group) and therapy with L-T4 was randomly introduced in 95/130 (73.1%) SH children (SH-T1 group). We did not find statistical differences in hSDS and BMI Z-score between the SH-T0 and SH-T1 groups (p = 0.761 and p = 0.843, respectively). Introducing L-T4 in patients with short stature did not affect the linear growth at the end of FU ex-pressed as hSDS. OH developed in six children (6.3%) in the SH-T1 group. After conducting a multivariate logistic regres-sion, we found that the baseline TSH concentration and BMI Z-score are possible predictors of OH.Conslusions: Our study confirmed a low risk of progression of SH to overt hypothyroidism. The majority of patients remains SH or resolved for nor-mal thyroid function. The L-T4 therapy did not effect on linear growth and body weight. The main predictor of worsening to hypothyroidism were a higher TSH level and Z-score BMI.","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"29 2","pages":"97-103"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/45/07/PEDM-29-49969.PMC10411089.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41160059","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}

引用次数: 0

Differences in the clinical picture at the onset of diagnosis of severe autoimmune hypothyroidism in children depending on the time of diagnosis: before or during the SARS-CoV-2 pandemic. 儿童严重自身免疫性甲状腺功能减退症发病时的临床表现因诊断时间而异：是在SARS-CoV-2大流行之前还是期间。

Pediatric Endocrinology, Diabetes and Metabolism Pub Date : 2023-01-01 DOI: 10.5114/pedm.2023.133123

Jessica Munarin, Gerdi Tuli

{"title":"Differences in the clinical picture at the onset of diagnosis of severe autoimmune hypothyroidism in children depending on the time of diagnosis: before or during the SARS-CoV-2 pandemic.","authors":"Jessica Munarin, Gerdi Tuli","doi":"10.5114/pedm.2023.133123","DOIUrl":"10.5114/pedm.2023.133123","url":null,"abstract":"Introduction: There are few data about effects of COVID-19 on thyroid disease presentation in children, due to difficulties in healthcare services access.Aim of the study: To assess the differences in hypothyroidism presentation before and during the COVID-19 pandemic.Material and methods: All paediatric patients with autoimmune hypothyroidism (AIT) diagnosed from January 2017 to December 2022 were analysed.Results: A total of 150 subjects were enrolled (94 in before and 56 during the pandemic period). Severe AIT was detected in 7.4% before and 12.5% during the pandemic. Age at the onset in the pre-pandemic period was lower ( p = 0.04). Diagnosis delay (time elapsed from onset of symptoms and diagnosis) was significantly different between the before and during the pandemic groups ( p = 0.02). In the pre-pandemic period the TSH value was 447.7 ±59.1, and it was 713.7 ±104.4 mUI/l during the pandemic ( p = 0.04), whereas mean fT4 values were 2.66 ±0.34 and 0.58 ±0.08 ng/l, respectively ( p = 0.0002). Significantly greater thyroid volume and bone age delay SDS were observed during the pandemic ( p = 0.04). Neurological symptoms were mostly observed during the pandemic, especially slow speech and impaired school performance.Conclusions: A higher rate of severe AIT was observed during the pandemic period, mostly related to difficulties in access to healthcare services. The diagnosis delay led to a more severe biochemical thyroid hormone profile, goitre, and more frequent presence of bone age delay and neurological symptoms at the onset. Recognizing hypothyroidism and recalling symptoms in child-hood, even if often non-specific, is fundamental for avoiding diagnosis delay.","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"29 4","pages":"253-258"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10826695/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139571358","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}

引用次数: 0

Adrenocortical carcinoma – 12-year observation period in a single centre. Case report with literature review 肾上腺皮质癌:单中心12年观察期。病例报告并文献复习

Pediatric Endocrinology, Diabetes and Metabolism Pub Date : 2023-01-01 DOI: 10.5114/pedm.2023.132131

Patrycja Dasiewicz, Elżbieta Moszczyńska, Danuta Perek, Dariusz Polnik, Maria Stepaniuk, Joanna Trubicka, Wiesława Grajkowska

{"title":"Adrenocortical carcinoma – 12-year observation period in a single centre. Case report with literature review","authors":"Patrycja Dasiewicz, Elżbieta Moszczyńska, Danuta Perek, Dariusz Polnik, Maria Stepaniuk, Joanna Trubicka, Wiesława Grajkowska","doi":"10.5114/pedm.2023.132131","DOIUrl":"https://doi.org/10.5114/pedm.2023.132131","url":null,"abstract":"AMA Dasiewicz P, Moszczyńska E, Perek D, et al. Adrenocortical carcinoma – 12-year observation period in a single centre. Case report with literature review. Pediatric Endocrinology Diabetes and Metabolism. 2023;29(3):202-208. doi:10.5114/pedm.2023.132131. APA Dasiewicz, P., Moszczyńska, E., Perek, D., Polnik, D., Stepaniuk, M., & Trubicka, J. et al. (2023). Adrenocortical carcinoma – 12-year observation period in a single centre. Case report with literature review. Pediatric Endocrinology Diabetes and Metabolism, 29(3), 202-208. https://doi.org/10.5114/pedm.2023.132131 Chicago Dasiewicz, Patrycja, Elżbieta Moszczyńska, Danuta Perek, Dariusz Polnik, Maria Stepaniuk, Joanna Trubicka, and Wiesława Grajkowska. 2023. \"Adrenocortical carcinoma – 12-year observation period in a single centre. Case report with literature review\". Pediatric Endocrinology Diabetes and Metabolism 29 (3): 202-208. doi:10.5114/pedm.2023.132131. Harvard Dasiewicz, P., Moszczyńska, E., Perek, D., Polnik, D., Stepaniuk, M., Trubicka, J., and Grajkowska, W. (2023). Adrenocortical carcinoma – 12-year observation period in a single centre. Case report with literature review. Pediatric Endocrinology Diabetes and Metabolism, 29(3), pp.202-208. https://doi.org/10.5114/pedm.2023.132131 MLA Dasiewicz, Patrycja et al. \"Adrenocortical carcinoma – 12-year observation period in a single centre. Case report with literature review.\" Pediatric Endocrinology Diabetes and Metabolism, vol. 29, no. 3, 2023, pp. 202-208. doi:10.5114/pedm.2023.132131. Vancouver Dasiewicz P, Moszczyńska E, Perek D, Polnik D, Stepaniuk M, Trubicka J et al. Adrenocortical carcinoma – 12-year observation period in a single centre. Case report with literature review. Pediatric Endocrinology Diabetes and Metabolism. 2023;29(3):202-208. doi:10.5114/pedm.2023.132131.","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"28 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135662281","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}

引用次数: 0

Statin therapy and lipids-lowering supplements - safe and effective treatment of lipids disturbances in children. 他汀类药物治疗和降脂补充剂——安全有效地治疗儿童血脂紊乱。

Pediatric Endocrinology, Diabetes and Metabolism Pub Date : 2022-01-01 DOI: 10.5114/pedm.2022.116114

Małgorzata Grabarczyk, Kinga Pomianowska, Tymoteusz Zaręba-Głód, Agnieszka Zachurzok, Ewa Małecka-Tendera, Paweł Matusik

{"title":"Statin therapy and lipids-lowering supplements - safe and effective treatment of lipids disturbances in children.","authors":"Małgorzata Grabarczyk, Kinga Pomianowska, Tymoteusz Zaręba-Głód, Agnieszka Zachurzok, Ewa Małecka-Tendera, Paweł Matusik","doi":"10.5114/pedm.2022.116114","DOIUrl":"https://doi.org/10.5114/pedm.2022.116114","url":null,"abstract":"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.","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"28 2","pages":"108-113"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/ae/5e/PEDM-28-46998.PMC10214963.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9574798","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}

引用次数: 4

Management of Prader-Labhart-Willi syndrome in children and in adults, with particular emphasis on the treatment with recombinant human growth hormone. 儿童和成人Prader-Labhart-Willi综合征的管理，特别强调重组人生长激素的治疗。

Pediatric Endocrinology, Diabetes and Metabolism Pub Date : 2022-01-01 DOI: 10.5114/pedm.2022.112861

Marta Drabik, Andrzej Lewiński, Renata Stawerska

引用次数: 3

Which C-peptide assay do you use? Increasing need for describing C-peptide assay performance. 你们使用哪种c肽测定法?描述c肽测定性能的需求日益增加。

Pediatric Endocrinology, Diabetes and Metabolism Pub Date : 2022-01-01 DOI: 10.5114/pedm.2022.113741

Pim Dekker, Martine de Vries, Henk-Jan Aanstoot, Joost Groen

引用次数: 0

Silver-Russell syndrome and Turner syndrome in a girl with short stature treated with growth hormone - case report. 生长激素治疗身高矮小女孩银罗素综合征和特纳综合征1例报告。

Pediatric Endocrinology, Diabetes and Metabolism Pub Date : 2022-01-01 DOI: 10.5114/pedm.2022.121463

Beata Wikiera, Julita Nocoń-Bohusz, Anna Noczyńska

{"title":"Silver-Russell syndrome and Turner syndrome in a girl with short stature treated with growth hormone - case report.","authors":"Beata Wikiera, Julita Nocoń-Bohusz, Anna Noczyńska","doi":"10.5114/pedm.2022.121463","DOIUrl":"https://doi.org/10.5114/pedm.2022.121463","url":null,"abstract":"Introduction: Silver-Russell syndrome (SRS) is a rare condition, affects one in 100,000 births. Turner syndrome (TS) is a chromosomal disorder, with an incidence of one in 2,500 females. Patient with SRS and mosaic 45, X/46,X,del(X) karyotypes can have a wide range of phenotypic manifestations. The aim of this article is to present a case report of a patient with an extremely rare and not reported so far genetically confirmed diagnose of Silver-Russell syndrome and Turner syndrome.Case report: The patient is a 9-years old girl who had a karyotype of 45,X on prenatal amniocytes. After delivery she was small for gestational age and her phenotype was quite consistent with Russell-Silver syndrome: characteristic dimorphic facial skeleton with a triangular face with prominent forehead, thin nose, hypotonia and hemihyperthrophy. The girl was admitted to hospital due to short stature and deep body weight deficiency. Skin fibroblast and DNA analysis showed mosaic karyotype 45,X[14]/46,X,del(X)(p21.2) and hypomethylation of a gene H19 located on chromosome 11p15. At present the patient is treated with growth hormone in our clinic with good therapeutic results.Conclusions: The diagnosis of one genetic disorder does not rule out the possibility of a second genetic disease. Early diagnosis of coexistence of two different genetic syndromes, although very difficult, may help with quickly, appropriate therapy for patients and prevent them from developing serious complications.","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"28 4","pages":"301-304"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/26/87/PEDM-28-48267.PMC10214936.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9947782","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}

引用次数: 0

Wolcott-Rallison syndrome: a case series of three patients. Wolcott-Rallison综合征:三个患者的病例系列。

Pediatric Endocrinology, Diabetes and Metabolism Pub Date : 2022-01-01 DOI: 10.5114/pedm.2022.118325

Fozia Memon, Muzna Arif, Salman Kirmani, Khadija Humayun

{"title":"Wolcott-Rallison syndrome: a case series of three patients.","authors":"Fozia Memon, Muzna Arif, Salman Kirmani, Khadija Humayun","doi":"10.5114/pedm.2022.118325","DOIUrl":"https://doi.org/10.5114/pedm.2022.118325","url":null,"abstract":"Introduction: Neonatal diabetes is a rare disease with incidence estimated at 1 in 300,000 to 1 in 400,000 live births. Walcott-Rallison syndrome has been identified as the most common cause of permanent neonatal diabetes in consanguineous families caused by mutations in eukaryotic translation initiation factor 2-α kinase 3 (EIF2AK3), characterized by permanent neonatal diabetes associated with liver dysfunction, multiple epiphyseal dysplasia, and developmental delay. We herein report 3 cases of genetically proven Wolcott-Rallison syndrome with variable phenotype presentation.Case series: All cases presented with high glucose levels and were treated with insulin. EIF2AK3 homozygous mutation was identified in all 3 on genetic analysis. Initial screening testing for associated comorbidities was normal, including X-ray examination, which did not show any signs of epiphyseal dysplasia in all cases. Case 2 and case 3 were both lost to follow-up and were later found to have expired at the ages of 18 months and 2 years, respectively, due to liver failure associated with intercurrent respiratory illness in hospitals in their native towns. Case one is now 2 years old on regular follow-up in paediatric Endocrine and neurology clinics and doing well so far.Conclusions: Morbidity, as well as mortality, is high among children with WRS neonatal diabetes. It is crucial to screen for gene mutation in patients with diabetes diagnosed before 6 months. Close therapeutic monitoring is recommended in WRS because of the risk of acute episodes of hypoglycaemia and ketoacidosis.","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"28 3","pages":"238-240"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/64/a4/PEDM-28-47559.PMC10214929.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9573362","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}

引用次数: 0