Journal of Pediatric Endocrinology & Metabolism最新文献

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Pubertal induction therapy in pediatric patients with Duchenne muscular dystrophy. 杜氏肌营养不良症儿童的青春期诱导治疗。
IF 1.3 4区 医学
Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-03-12 DOI: 10.1515/jpem-2025-0061
Giorgio Sodero, Clelia Cipolla, Donato Rigante, Federica Arzilli, Eugenio Maria Mercuri
{"title":"Pubertal induction therapy in pediatric patients with Duchenne muscular dystrophy.","authors":"Giorgio Sodero, Clelia Cipolla, Donato Rigante, Federica Arzilli, Eugenio Maria Mercuri","doi":"10.1515/jpem-2025-0061","DOIUrl":"https://doi.org/10.1515/jpem-2025-0061","url":null,"abstract":"<p><strong>Objectives: </strong>We conducted a scoping review and analyzed the medical literature on PubMed to assess any potential short-term and long-term benefits of pubertal induction in patients with DMD.</p><p><strong>Content: </strong>We identified six articles from our research cumulatively reporting clinical data from 58 pediatric patients with DMD, of age between 12 and 17.7 years. All of them were on glucocorticoid therapy with variable duration and the longest follow-up of 11.7 years. In all patients, the induction protocol was successful (leading to appearance of secondary sexual characteristics); no secondary effects were reported by any analyzed studies. Three papers reported an objective improvement of patients' quality of life, while in four there was a benefit on the bone profile.</p><p><strong>Summary: </strong>Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disorder that affects approximately 1 in 5,000 live-born male children. Because of early and chronic exposure to glucocorticoids, used as standards of care, pubertal development may be variable. While some boys experience a normal pubertal growth spurt, others have testosterone levels below the normal range for age and require pubertal induction therapy to achieve an adequate testicular volume, development of secondary sexual characteristics, and peak bone mass. When and how to use pubertal induction therapy in pediatric patients with DMD is still object of controversy.</p><p><strong>Outlook: </strong>The reported evidence of testosterone therapy in patients with DMD is still limited to small cohort sizes, which suggest efficacy and psychosocial benefits.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143606981","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Effect of empagliflozin treatment on laboratory and clinical findings of patients with glycogen storage disease type Ib: first study from Türkiye. 恩格列净治疗对Ib型糖原储存病患者实验室和临床表现的影响:来自<s:1> rkiye的第一项研究
IF 1.3 4区 医学
Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-02-27 Print Date: 2025-04-28 DOI: 10.1515/jpem-2024-0556
Engin Köse, Figen Özçay, Halil İbrahim Aydın, Çiğdem Seher Kasapkara, Aslı İnci, Aynur Küçükcongar Yavaş, Leyla Tümer, Fatma Tuba Eminoğlu
{"title":"Effect of empagliflozin treatment on laboratory and clinical findings of patients with glycogen storage disease type Ib: first study from Türkiye.","authors":"Engin Köse, Figen Özçay, Halil İbrahim Aydın, Çiğdem Seher Kasapkara, Aslı İnci, Aynur Küçükcongar Yavaş, Leyla Tümer, Fatma Tuba Eminoğlu","doi":"10.1515/jpem-2024-0556","DOIUrl":"10.1515/jpem-2024-0556","url":null,"abstract":"<p><strong>Objectives: </strong>Empagliflozin has been used for the treatment of over 100 glycogen storage disease type Ib (GSDIb) patients worldwide since 2019. We aimed to evaluate the effect of empagliflozin treatment on the laboratory and clinical findings of patients with GSDIb in Türkiye.</p><p><strong>Methods: </strong>Included in this multicenter study were 10 patients with GSDIb, and whose demographic, clinical and laboratory data were analyzed retrospectively. Further data for the study were garnered through a survey of patients and caregivers to evaluate the effects of empagliflozin treatment on quality of life (QoL).</p><p><strong>Results: </strong>The mean age at which the empagliflozin treatment was started was 73.2 (4-239) months. The mean duration of empagliflozin treatment was 16.9 (8-39) months. Glucosuria was identified in eight (80 %) patients undergoing empagliflozin treatment, while urogenital infections were detected in six (60 %) and hypoglycemia in two (20 %). An analysis of neutrophil levels revealed increased absolute neutrophil counts following empagliflozin treatment. Skin and/or mucosal lesions were noted in nine (90 %) patients prior to the initiation of empagliflozin treatment, but persisted in only one patient following empagliflozin treatment (10 %) (p=0.008). Empagliflozin treatment resulted in a decrease in the frequency of hospitalizations due to infection (p=0.0015). Furthermore, 80 % of the patients reported positive impact on their well-being as a result of the empagliflozin treatment, and 70 % of parents reported improvement in physical performance and activities, in the sleep quality of both the patient and parents, and in mobility.</p><p><strong>Conclusions: </strong>This study revealed empagliflozin to be effective in improving the neutrophil counts of patients with GSD Ib and in enhancing the QoL of both the patients and their caregivers.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"391-398"},"PeriodicalIF":1.3,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143505772","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Diabetes distress, depression, and future glycemic control among adolescents with type 1 diabetes. 青少年1型糖尿病患者的糖尿病困扰、抑郁和未来血糖控制
IF 1.3 4区 医学
Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-02-20 Print Date: 2025-04-28 DOI: 10.1515/jpem-2024-0524
Cecilia P Damilano, K Ming Chan Hong, Bethany A Glick, Manmohan K Kamboj, Robert P Hoffman
{"title":"Diabetes distress, depression, and future glycemic control among adolescents with type 1 diabetes.","authors":"Cecilia P Damilano, K Ming Chan Hong, Bethany A Glick, Manmohan K Kamboj, Robert P Hoffman","doi":"10.1515/jpem-2024-0524","DOIUrl":"10.1515/jpem-2024-0524","url":null,"abstract":"<p><strong>Objectives: </strong>Increased diabetes distress and depression in adolescents with type 1 diabetes (T1D) are associated with poor glycemic control but it is not known whether they predict future glycemic control.</p><p><strong>Methods: </strong>Patient Health Questionnaire (PHQ-9) and Problem Areas in Diabetes-Teen version (PAID-T) scores were given to 275 adolescents (age 13-17 years) with T1D. Robust rank order multivariate regression analysis was used to assess how age, duration of diabetes diagnosis, HbA<sub>1c</sub> at screen, PHQ-9 score, PAID-T screen, and insurance status predicted HbA<sub>1c</sub> at 1, 2, and 3 years after, and the changes in HbA<sub>1c</sub> over time.</p><p><strong>Results: </strong>HbA1c and changes in HbA1c after one year were related to baseline HbA1c. At 2 and 3 years HbA1c was related to the initial HbA<sub>1c</sub> [β: 0.64 (95 % CI 0.53-0.75) and β: 0.47 (95 % CI 0.33-0.61), respectively], and to PHQ9 at screening [β: 0.07 (95 % CI 0.01-0.14) and β: 0.11 (95% CI 0.03-0.18), respectively]. Relationships were also demonstrated between PHQ9 and changes HbA1c after 2 and 3 years [β: 0.07 (95% CI 0.01-0.14) and β: 0.11 (95 % CI 0.03-0.18), respectively]. PAID-T score was not related to future glycemic control or changes in glycemic control at any time. Insurance status (private 1, public 2) also predicted future glycemic control and changes in HbA<sub>1c</sub> at 1, 2, and 3 years too.</p><p><strong>Conclusions: </strong>Higher PHQ9 scores and public insurance predict worsening glycemic control over 3 years in adolescents with T1D while increased diabetes distress does not.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"311-317"},"PeriodicalIF":1.3,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143460472","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Evinacumab as an adjunct to lipid apheresis in an infant with homozygous familial hypercholesterolemia. Evinacumab作为纯合子家族性高胆固醇血症婴儿脂质分离的辅助药物。
IF 1.3 4区 医学
Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-02-20 Print Date: 2025-04-28 DOI: 10.1515/jpem-2024-0505
Christian Stirnkorb, Verena Ney, Carsten Bergmann, Martin Bald
{"title":"Evinacumab as an adjunct to lipid apheresis in an infant with homozygous familial hypercholesterolemia.","authors":"Christian Stirnkorb, Verena Ney, Carsten Bergmann, Martin Bald","doi":"10.1515/jpem-2024-0505","DOIUrl":"10.1515/jpem-2024-0505","url":null,"abstract":"<p><strong>Objectives: </strong>Investigation of the efficacy of the angiopoietin-like protein 3 (ANGPTL3) antibody evinacumab in a four-year-old infant with homozygous familial hypercholesterolemia (HoFH) as an adjunct to lipid apheresis.</p><p><strong>Case presentation: </strong>A two-year-old boy was found to have xanthomas of the Achilles tendon and LDL cholesterol levels around 900 mg/dL. HoHF was subsequently confirmed by molecular genetics. At the age of three, lipid apheresis was started twice a week. At the age of four, a four-weekly infusion of evinacumab was started. This resulted in a 67 % reduction in LDL cholesterol before apheresis, allowing the frequency of apheresis to be reduced to once a week. The mean LDL concentration fell by a further 37 % despite the reduction in apheresis. With the addition of ezetimibe, the mean LDL concentration was reduced to below 115 mg/dL.</p><p><strong>Conclusions: </strong>The administration of evinacumab can significantly lower the concentration of LDL cholesterol in infants and thus reduce the frequency of lipid apheresis.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"410-414"},"PeriodicalIF":1.3,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143460474","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Assessing the efficacy of a hybrid closed loop system in a racial-ethnic minority cohort of children and adolescents with type 1 diabetes. 评估混合闭环系统在少数民族1型糖尿病儿童和青少年队列中的疗效。
IF 1.3 4区 医学
Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-02-17 Print Date: 2025-04-28 DOI: 10.1515/jpem-2024-0535
Andrea Granados, Juliana Orrego Castellanos, Andrea Martinez Sanchez, Maria Jose Giraldo, Adriana Carrillo-Iregui
{"title":"Assessing the efficacy of a hybrid closed loop system in a racial-ethnic minority cohort of children and adolescents with type 1 diabetes.","authors":"Andrea Granados, Juliana Orrego Castellanos, Andrea Martinez Sanchez, Maria Jose Giraldo, Adriana Carrillo-Iregui","doi":"10.1515/jpem-2024-0535","DOIUrl":"10.1515/jpem-2024-0535","url":null,"abstract":"<p><strong>Objectives: </strong>Despite improved outcomes in the use of a hybrid closed loop system (HCLS), significant disparities in the application of this technology exist among youth with type 1 diabetes (T1DM). The study aimed to evaluate the impact of a tubeless HCLS on glycemic outcomes in a pediatric racial-ethnic minority population.</p><p><strong>Methods: </strong>A retrospective, single-center study included youth with T1D initiating HCLS Omnipod 5. Outcomes included HbA1c, continuous glucose monitor variables, BMI Z score, and episodes of diabetic ketoacidosis (DKA). Outcomes were compared from baseline, 3 and 6 months of Omnipod 5 start.</p><p><strong>Results: </strong>The study included 174 participants, aged between 2 and 22 years, with a mean age of 7.9 ± 3.7 years. Hispanics constituted 87.3 % (152) of the cohort, with 53 % males and 47 % females. Insurance coverage was 56.9 % public, 42.5 % private, and 0.5 % uninsured. Baseline HbA1c level was 8.0 % ± 1.7, 7.3 % ± 1.1 at 3 months and 7.3 % ± 1.1 at 6 months (p<0.001). Glucose time in range (TIR) was 54.5 % at baseline to 61.9 % at 3 months, and 60.5 % at 6 months (p<0.001). Notably, there were no changes in BMI z-scores or DKA episodes following the initiation of the HCLS Omnipod 5.</p><p><strong>Conclusions: </strong>The study showed that a tubeless HCLS significantly improved glycemic control in a pediatric minority cohort with T1DM, without affecting BMI Z-scores or increasing DKA episodes. Ongoing efforts to address disparities in diabetes technology access are crucial for optimizing care and alleviating the burden on individuals with T1DM across racial backgrounds.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"340-344"},"PeriodicalIF":1.3,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143434143","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
DNA ligase IV deficiency identified in a patient with hypergonadotropic hypogonadism: a case report. DNA连接酶IV缺乏鉴定患者与高促性腺功能减退:一个病例报告。
IF 1.3 4区 医学
Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-02-17 Print Date: 2025-04-28 DOI: 10.1515/jpem-2024-0510
Deniz Yasar, Abdullah Sezer, Caner Aytekin, Gülin Karacan Küçükali, Beyhan Özkaya Dönmez, Aslıhan Araslı Yılmaz, İclal Okur, Behiye Sarıkaya Özdemir, Erdal Kurnaz, Melikşah Keskin, Şenay Savaş Erdeve
{"title":"DNA ligase IV deficiency identified in a patient with hypergonadotropic hypogonadism: a case report.","authors":"Deniz Yasar, Abdullah Sezer, Caner Aytekin, Gülin Karacan Küçükali, Beyhan Özkaya Dönmez, Aslıhan Araslı Yılmaz, İclal Okur, Behiye Sarıkaya Özdemir, Erdal Kurnaz, Melikşah Keskin, Şenay Savaş Erdeve","doi":"10.1515/jpem-2024-0510","DOIUrl":"10.1515/jpem-2024-0510","url":null,"abstract":"<p><strong>Objectives: </strong>DNA ligase IV (LIG4) deficiency is a rare autosomal recessive disorder associated with impaired DNA damage-response mechanisms. LIG4 deficiency exhibits a broad clinical spectrum, including microcephaly, facial abnormalities, sensitivity to ionizing radiation, ranging from severe combined immunodeficiency to normal immune function, progressive bone marrow failure, and predisposition to malignancy.</p><p><strong>Case presentation: </strong>We report an 18-year-old girl of consanguineous Turkish parents, first evaluated at 13 years old for growth retardation and short stature. She was born preterm at 32 weeks with dysmorphic facial features, lissencephaly, intellectual disability, and without immunodeficiency. Although diagnosed with growth hormone deficiency, she did not receive appropriate hormone therapy due to special circumstances. At the age of 15, she presented with primary amenorrhea. Further evaluation revealed hypergonadotropic hypogonadism due to gonadal failure. Genetic analysis revealed a homozygous c.2440C>T (p.Arg814Ter) mutation in the LIG4 gene. Following genetic counseling, her parents opted for prenatal diagnosis in a subsequent pregnancy, resulting in the birth of another child with the same condition.</p><p><strong>Conclusions: </strong>LIG4 syndrome should be considered in the differential diagnosis of cases with growth retardation, microcephaly, and gonadal failure. In the literature, there are limited cases reported with gonadal failure in LIG4 syndrome. Here, we emphasize this aspect to highlight its significance.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"415-420"},"PeriodicalIF":1.3,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143426533","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Influence of excess weight on metabolic risk factors in Argentinian preschool children. 超重对阿根廷学龄前儿童代谢危险因素的影响
IF 1.3 4区 医学
Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-02-17 Print Date: 2025-04-28 DOI: 10.1515/jpem-2024-0513
Agustina Malpeli, Virginia Stallings, Marisa Sala, María Victoria Fasano, Ana Varea, Liliana Disalvo, Natalia Matamoros, Andrea Tournier, Horacio F Gonzalez
{"title":"Influence of excess weight on metabolic risk factors in Argentinian preschool children.","authors":"Agustina Malpeli, Virginia Stallings, Marisa Sala, María Victoria Fasano, Ana Varea, Liliana Disalvo, Natalia Matamoros, Andrea Tournier, Horacio F Gonzalez","doi":"10.1515/jpem-2024-0513","DOIUrl":"10.1515/jpem-2024-0513","url":null,"abstract":"<p><strong>Objectives: </strong>Evaluate the differences in metabolic risk factors in preschool children with normal weight (NWG) or with some degree of excess weight (OWG).</p><p><strong>Methods: </strong>Body mass index (BMI), umbilical waist circumference (WC), mid-upper arm circumference (MUAC) and total body fat (TBF) in children aged 1-5.9 years. The following metabolic risk factors were measured: blood pressure, fasting glycaemia, fasting serum insulin, HOMA IR Index, total cholesterol (TC), LDL cholesterol (LDL-C) HDL cholesterol (HDL-C) and triacylglycerol (TG).</p><p><strong>Results: </strong>In population evaluated (n=689) MUAC, WC, TBF, HOMA IR were higher in OWG compared to NWG and significantly higher in OWG girls compared to boys (two ways ANOVA). Positive associations were found between diastolic blood pressure, insulin and HOMA-IR and WC, MUAC, TBF, BMI z score in the adjusted and unadjusted model.</p><p><strong>Conclusions: </strong>MUAC may emerge as an indicator with predictive power for metabolic risk and would be very useful to measure in many setting. There is a need for in-depth research into sex difference.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"351-358"},"PeriodicalIF":1.3,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143426536","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical and laboratory characteristics of propionic acidemia in a Turkish cohort. 土耳其队列丙酸血症的临床和实验室特征。
IF 1.3 4区 医学
Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-02-17 Print Date: 2025-04-28 DOI: 10.1515/jpem-2024-0366
Halil Tuna Akar, Ayça Burcu Kahraman, Yılmaz Yıldız, Berat Baran, Kısmet Çıkı, Turgay Coşkun, Didem Yücel Yılmaz, Rıza Köksal Özgül, Hayrettin Hakan Aykan, Ali Dursun, Serap Sivri, Ayşegül Tokatlı
{"title":"Clinical and laboratory characteristics of propionic acidemia in a Turkish cohort.","authors":"Halil Tuna Akar, Ayça Burcu Kahraman, Yılmaz Yıldız, Berat Baran, Kısmet Çıkı, Turgay Coşkun, Didem Yücel Yılmaz, Rıza Köksal Özgül, Hayrettin Hakan Aykan, Ali Dursun, Serap Sivri, Ayşegül Tokatlı","doi":"10.1515/jpem-2024-0366","DOIUrl":"10.1515/jpem-2024-0366","url":null,"abstract":"<p><strong>Objectives: </strong>Propionic acidemia (PA) is an autosomal recessive multisystem disorder caused by the deficiency of propionyl-CoA carboxylase, encoded by <i>PCCA</i> and <i>PCCB</i> genes. This retrospective study presents the clinical and laboratory characteristics of PA patients followed up in our center.</p><p><strong>Methods: </strong>Included in the study were 50 patients diagnosed in a single center with propionic acidemia between 1984 and 2020, whose electronic and written hospital records regarding demographic, clinical, and laboratory features, along with diagnostic and therapeutic approaches, were reviewed retrospectively.</p><p><strong>Results: </strong>This cohort had a median age at diagnosis of 18 days and 91.1 % (n=41) were born at term. Consanguinity was notably prevalent (91.1 %), and a family history of PA was reported in 14 % of cases. No significant relationships were observed between clinical and laboratory parameters and mortality. Laboratory findings at the time of diagnosis revealed significant metabolic abnormalities, including low levels of free carnitine, elevated C3 propionyl carnitine, and varied amino acid imbalances. Twenty-three patients exhibited developmental delay and/or intellectual disability. Brain magnetic resonance imaging unveiled white matter involvement and ventricular dilatation in 9/25 patients. Furthermore, dilated cardiomyopathy (26 %) was noted in patients who had cardiac assessments. Among the study cohort, 27 patients survived, 23 patients died during follow-up. No significant relationships were observed between clinical and laboratory parameters and mortality.</p><p><strong>Conclusions: </strong>Despite improvements in the understanding of the pathophysiology and advances in diagnostic and treatment approaches, propionic acidemia and its long-term complications can still lead to severe consequences. This comprehensive evaluation offers valuable insights into the multifaceted nature of PA.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"399-405"},"PeriodicalIF":1.3,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143426470","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Is oxytocin related to psychiatric symptoms in adolescents with obesity? 催产素与肥胖青少年的精神症状有关吗?
IF 1.3 4区 医学
Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-02-17 Print Date: 2025-04-28 DOI: 10.1515/jpem-2024-0583
Gonca Özyurt, Gönül Çatlı, Sezer Acar, Gülten Cingöz, Dua Özsoylu, Tuncay Küme, Sefa Kızıldağ, Bumin Nuri Dündar, Yusuf Öztürk, Ezgi Karagöz Tanıgör, Ali Evren Tufan, Ayhan Abaci
{"title":"Is oxytocin related to psychiatric symptoms in adolescents with obesity?","authors":"Gonca Özyurt, Gönül Çatlı, Sezer Acar, Gülten Cingöz, Dua Özsoylu, Tuncay Küme, Sefa Kızıldağ, Bumin Nuri Dündar, Yusuf Öztürk, Ezgi Karagöz Tanıgör, Ali Evren Tufan, Ayhan Abaci","doi":"10.1515/jpem-2024-0583","DOIUrl":"10.1515/jpem-2024-0583","url":null,"abstract":"<p><strong>Objectives: </strong>We aimed to investigate the relation of oxytocin receptor (<i>OXTR</i>) gene variants (<i>rs53576</i> and <i>rs2254298</i>) and serum oxytocin (OXT) levels with psychiatric symptoms in healthy adolescents and adolescents with obesity.</p><p><strong>Methods: </strong>A total of 250 adolescents with obesity and 250 healthy adolescents were included in this study. Attachment properties, anxiety, and depression were evaluated with self-reports while diagnoses were ascertained with KIDDIE-SADS-PL Turkish version. Serum OXT level was studied with the ELISA method, and <i>OXTR</i> gene variants were studied by quantitative polymerase chain reaction (<i>rs53576</i>) and restriction fragment length polymorphism (RFLP) (<i>rs2254298</i>) methods.</p><p><strong>Results: </strong>Serum OXT level was significantly lower in adolescents with obesity than in healthy controls. Self-reported symptoms of anxiety and depression were significantly elevated, especially in female adolescents with obesity, whereas parent/peer attachment was significantly lower. The <i>rs53576 G/G</i> genotype was found to be significantly more prevalent among obese youth. About 29.2 % of obese youth were diagnosed with psychopathology, especially anxiety and depression. OXT levels and receptor polymorphisms were not related to self-reported symptoms, attachment, and presence of psychopathology.</p><p><strong>Conclusions: </strong>Further studies should evaluate the roles of other constructs (e.g., early adversity, parenting, social supports, coping, temperament, etc.) and discern the roles of parent-child synchrony in elucidating relationships between OXT, pediatric obesity, and psychopathology.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"318-325"},"PeriodicalIF":1.3,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143426539","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Associations between body mass index and sleep duration in Brazilian children and adolescents: the moderating role of screen time. 巴西儿童和青少年体重指数与睡眠时间的关系:屏幕时间的调节作用。
IF 1.3 4区 医学
Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-02-14 Print Date: 2025-04-28 DOI: 10.1515/jpem-2024-0302
Leticia Borfe, Ana P Sehn, Cézane Priscila Reuter, Jorge Mota, Ryan Donald Burns, Caroline Brand, Anelise R Gaya
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