Journal of pediatric endocrinology & metabolism : JPEM最新文献

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Transient worsening of thyrotoxic myopathy following methimazole and metoprolol initiation in a 12-year-old girl: a case report and literature review. 12岁女孩甲巯咪唑美托洛尔治疗后甲亢性肌病一过性恶化:1例报告及文献复习。
Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2025-06-25 DOI: 10.1515/jpem-2025-0205
Yuto Onishi, Shinji Higuchi, Kohei Iwata, Yoh Watanabe, Yuki Yamada, Jun Mori
{"title":"Transient worsening of thyrotoxic myopathy following methimazole and metoprolol initiation in a 12-year-old girl: a case report and literature review.","authors":"Yuto Onishi, Shinji Higuchi, Kohei Iwata, Yoh Watanabe, Yuki Yamada, Jun Mori","doi":"10.1515/jpem-2025-0205","DOIUrl":"https://doi.org/10.1515/jpem-2025-0205","url":null,"abstract":"<p><strong>Objectives: </strong>Thyrotoxic myopathy (TM) is a muscle disorder associated with hyperthyroidism. Although TM is common in adults, its incidence in children is unknown due to the limited number of reports. TM usually improves with the treatment of hyperthyroidism. This is the first report of a patient with TM who experienced transient worsening of muscle weakness shortly after administration of methimazole (MMI) and metoprolol tartrate.</p><p><strong>Case presentation: </strong>A 12-year-old Japanese girl with Graves' disease was administered MMI and metoprolol tartrate. Within 12 h of treatment initiation, the patient experienced difficulty in standing from a chair. Examination revealed proximal lower-limb weakness and reduced grip strength. Based on the patient's clinical course and blood test results, thyrotoxic periodic paralysis, myasthenia gravis, or polymyositis were considered unlikely. While the side effects of MMI and metoprolol tartrate were also considered as differential diagnoses, her history revealed mild pre-existing lower limb muscle weakness for 2 months before treatment, suggesting that the side effects of the medication were unlikely. Given the clinical course, the worsening of TM was the most probable cause, and treatment was continued cautiously. Muscle weakness gradually improved over 3 months as her thyroid hormone levels normalized. Magnetic resonance imaging taken 1 month later revealed gluteus muscle atrophy, which resolved within 10 months.</p><p><strong>Conclusions: </strong>TM may show transient worsening after MMI and metoprolol tartrate administration, requiring the evaluation of TM, drug side effects, and other possible causes before continuing treatment. This case highlights the importance of recognizing TM in pediatric patients.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144487730","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
MMP13-related metaphyseal dysplasia: a differential diagnosis of rickets. mmp13相关干骺端发育不良:佝偻病的鉴别诊断。
Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2025-06-13 DOI: 10.1515/jpem-2025-0041
Abdulkerim Kolkiran, Tuğba Daşar, Abdullah Sezer
{"title":"MMP13-related metaphyseal dysplasia: a differential diagnosis of rickets.","authors":"Abdulkerim Kolkiran, Tuğba Daşar, Abdullah Sezer","doi":"10.1515/jpem-2025-0041","DOIUrl":"https://doi.org/10.1515/jpem-2025-0041","url":null,"abstract":"<p><strong>Objectives: </strong><i>MMP13</i>-related metaphyseal dysplasia Spahr type, is an extremely rare skeletal disorder, and only a dozen patients with a confirmed molecular diagnosis have been reported. It is characterized by mild short stature, genu varum, and metaphyseal irregularities including fraying, splaying, and cupping of the long bones. The disorder is in the differential diagnosis of rickets, a relatively common disorder in childhood that shares similar clinical and radiological features with metaphyseal dysplasia.</p><p><strong>Case presentation: </strong>Herein, we present a 39-month-old girl patient who was initially evaluated for rickets due to mild short stature, bowing of the lower extremities, and metaphyseal changes. Biochemical tests including calcium, phosphate, alkaline phosphatase, and vitamin D levels were all within normal ranges. Radiographies revealed advanced bone age, mildly enlarged epiphyses, wide and irregular metaphyses of the long tubular bones, mildly thickened long tubular bones, and coxa vara. Clinical exome sequencing identified a homozygous variant in the <i>MMP13</i> gene, confirming the diagnosis of metaphyseal dysplasia Spahr type.</p><p><strong>Conclusions: </strong>We emphasize that metaphyseal dysplasias mimic the clinical and radiographic features of rickets and play a significant role in the differential diagnoses, particularly in patients presenting with short stature, genu varum, and metaphyseal irregularities, despite the absence of biochemical abnormalities. In accordance with the Nosology of Genetic Skeletal Disorders: 2023 Revision, we reinforce the dyadic naming system for the two groups of <i>MMP13</i>-related metaphyseal dysplasia, differentiated solely by their inheritance patterns, which also exhibit consistency with the location of the variants.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144295624","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
Secular trends of birth weight and its associations with obesity and hypertension among Southern Chinese children and adolescents. 中国南方儿童和青少年出生体重的长期趋势及其与肥胖和高血压的关系
IF 1.4
Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2022-11-18 Print Date: 2022-12-16 DOI: 10.1515/jpem-2021-0430
Xiaoying He, Zixian Shao, Jiajia Jing, Xiaotong Wang, Suhua Xu, Miao Wu, Yanna Zhu
{"title":"Secular trends of birth weight and its associations with obesity and hypertension among Southern Chinese children and adolescents.","authors":"Xiaoying He,&nbsp;Zixian Shao,&nbsp;Jiajia Jing,&nbsp;Xiaotong Wang,&nbsp;Suhua Xu,&nbsp;Miao Wu,&nbsp;Yanna Zhu","doi":"10.1515/jpem-2021-0430","DOIUrl":"https://doi.org/10.1515/jpem-2021-0430","url":null,"abstract":"<p><strong>Objectives: </strong>The association of low or high birth weight (L/HBW) with obesity and hypertension in childhood remains unclear. We aimed to identify the secular trend of birth weight distribution and its relationship to obesity and hypertension in Southern Chinese children and adolescents.</p><p><strong>Methods: </strong>6,561 individuals (6-17-year-old) were enrolled by multistage cluster sampling to observed the trend of birth weight distribution and its associated factors. 1,218 were further selected by group matching to investigate the correlation between birth weight and obesity or hypertension.</p><p><strong>Results: </strong>Between 1997 and 2008, a significant decline in the LBW rate and no significant change in the HBW rate was found. LBW was associated with maternal BMI<18 kg/m<sup>2</sup> (OR1.79, 95% CI 1.08-2.97) during pregnancy, while maternal BMI between 25.0 and 27.9 kg/m<sup>2</sup> (OR1.62, 95% CI 1.04-2.52) and paternal BMI>28 kg/m<sup>2</sup> (OR1.64, 95% CI 1.02-2.63) during pregnancy were associated with HBW. The prevalence of obesity was significantly higher with HBW than normal birth weight (NBW) or LBW (16.73, 6.25 and 5.50%, respectively). The prevalence rates of suspected hypertension were 1.62, 1.25 and 1.49% among LBW, NBW and HBW, respectively (p>0.05). LBW decreased the risks of childhood overweight (OR0.31, 95% CI 0.18-0.54), but had no effect on suspected hypertension. HBW increased the risks of childhood obesity (OR2.19, 95% CI 1.50-3.20), but decreased the risks of suspected hypertension (OR0.22, 95% CI 0.09-0.58).</p><p><strong>Conclusions: </strong>HBW was positively associated with childhood obesity, and parental BMIs management might be one of the measurements to control birth weight to lessen childhood obesity.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1487-1496"},"PeriodicalIF":1.4,"publicationDate":"2022-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40696207","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: 1
The efficacy and safety of dipeptidyl peptidase-4 inhibitors and glucagon-like peptide-1 agonists in pediatric patients with type 2 diabetes: a systematic review. 二肽基肽酶-4抑制剂和胰高血糖素样肽-1激动剂在小儿2型糖尿病患者中的疗效和安全性:一项系统综述
Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2022-11-01 Print Date: 2022-12-16 DOI: 10.1515/jpem-2021-0533
Xinyi Li, Tong Sun, Xin Du, Xiaohui Xie, Luwen Shi
{"title":"The efficacy and safety of dipeptidyl peptidase-4 inhibitors and glucagon-like peptide-1 agonists in pediatric patients with type 2 diabetes: a systematic review.","authors":"Xinyi Li, Tong Sun, Xin Du, Xiaohui Xie, Luwen Shi","doi":"10.1515/jpem-2021-0533","DOIUrl":"10.1515/jpem-2021-0533","url":null,"abstract":"<p><strong>Background: </strong>The incidence of type 2 diabetes mellitus (T2DM) in the pediatric population is increasing. There is a great need to develop more drugs for pediatric T2DM. Glucagon-like peptide-1 (GLP-1) agonists and dipeptidyl dipeptidase-4 (DPP-4) inhibitors have been approved for adults with T2DM and they might be effective in youths due to the similar pathogenic defects associated with T2DM. Here we aim to evaluate the efficacy and safety of GLP-1 agonists and DPP-4 inhibitors in pediatric patients with T2DM.</p><p><strong>Contents: </strong>We performed a systematic review including trials comparing GLP-1 agonists and DPP-4 inhibitors against placebo in pediatric T2DM. This project was conducted based on the quality of reporting of meta-analyses (QUOROM) statement. Embase, PubMed, and Cochrane library were searched by two independent investigators for selecting relevant studies.</p><p><strong>Summary and outlook: </strong>Five RCTs with a total sample size of 237 children were included. GLP-1 agonists showed superiority in glycemic improvement than placebo for pediatric T2DM. The advantage of DPP-4 inhibitors versus placebo for glycemic improvement is still unclear. GLP-1 agonists and DPP-4 inhibitors were well tolerated in pediatrics and further strictly designed trials are needed.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1457-1463"},"PeriodicalIF":0.0,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40657415","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
Insights into the implication of obesity in hypogonadism among adolescent boys. 青春期男孩性腺功能减退中肥胖症的含义。
IF 1.4
Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2022-10-26 Print Date: 2022-12-16 DOI: 10.1515/jpem-2022-0277
Mona M Hassan, Azza M Sarry Eldin, Noha Musa, Khaled H El-Wakil, May Ali, Hanaa H Ahmed
{"title":"Insights into the implication of obesity in hypogonadism among adolescent boys.","authors":"Mona M Hassan,&nbsp;Azza M Sarry Eldin,&nbsp;Noha Musa,&nbsp;Khaled H El-Wakil,&nbsp;May Ali,&nbsp;Hanaa H Ahmed","doi":"10.1515/jpem-2022-0277","DOIUrl":"https://doi.org/10.1515/jpem-2022-0277","url":null,"abstract":"<p><strong>Objectives: </strong>This research aimed at uncovering the mechanisms behind obesity-related hypogonadism in adolescent boys and to investigate the association between anthropometric characteristics and testicular functions of these boys.</p><p><strong>Methods: </strong>This study included 60 adolescent boys (12-18 years) with exogenous obesity (BMI≥95th percentile) and 30 age matched lean controls (BMI=15th-85th percentile). Full clinical examination, anthropometric measurements and pubertal assessment were performed. Laboratory investigations included hemoglobin, hematocrit, lipid panel, LH, FSH, free and total testosterone, inhibin B and estradiol.</p><p><strong>Results: </strong>The results indicated the presence of positive family history of obesity in 85% of obese boys vs. 40% of the lean counterparts. Concerning SBP of obese boys, 7% were hypertensive (95th percentile), 25% were prehypertensive (between 90th and 95th percentiles) while, DBP findings showed that 33% are hypertensive and 33% are prehypertensive. Meanwhile, 13.3% of lean controls were prehypertensive. Anthropometric measurements and lipid profile values revealed a significant difference between obese and lean boys. Compared to obese boys the normal weight boys had higher levels of free testosterone (21.15 ± 2.90 pg/mL vs. 11.38 ± 3.96 pg/mL, p<0.001), total testosterone (10.59 ± 6.63 ng/dL vs. 3.23 ± 1.70 ng/dL, p<0.001), FSH (7.33 ± 3.75 mIU/mL vs. 5.63 ± 3.96 mIU/mL, p=0.026) and inhibin B (83.28 ± 27.66 pg/mL vs. 62.90 ± 17.85 pg/mL, p=0.001) and they registered lower level of estradiol (18.48 ± 7.33 pg/mL vs. 40.20 ± 7.91 pg/mL, p<0.001). In obese boys, BMI SDS significantly correlated with lipid profile and estradiol whereas, it showed significant negative correlation with LH, free and total testosterone and inhibin B. Penile length significantly correlated with LH while it revealed significant negative correlation with cholesterol.</p><p><strong>Conclusions: </strong>This study evidenced a close association between obesity and hypogonadism in adolescent boys which could be due to the increased estradiol level and decreased T/E2 ratio.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1497-1504"},"PeriodicalIF":1.4,"publicationDate":"2022-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40669836","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
Effect of obesity and excessive body fat on glycaemic control in paediatric type 1 diabetes. 肥胖和体脂过多对儿童1型糖尿病血糖控制的影响
IF 1.4
Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2022-10-21 Print Date: 2022-12-16 DOI: 10.1515/jpem-2022-0151
Pian Pian Tee, Jeanne Sze Lyn Wong, Nalini M Selveindran, Janet Yeow Hua Hong
{"title":"Effect of obesity and excessive body fat on glycaemic control in paediatric type 1 diabetes.","authors":"Pian Pian Tee,&nbsp;Jeanne Sze Lyn Wong,&nbsp;Nalini M Selveindran,&nbsp;Janet Yeow Hua Hong","doi":"10.1515/jpem-2022-0151","DOIUrl":"https://doi.org/10.1515/jpem-2022-0151","url":null,"abstract":"<p><strong>Objectives: </strong>Excessive adiposity is believed to contribute to insulin resistance, resulting in more complex metabolic outcomes and poorer glycaemic control. This study aimed to determine the prevalence of overweight/obese, excessive adiposity, and metabolic syndrome in type 1 diabetes mellitus (T1DM) children, who were from a relatively overweight/obese population, and to assess the effects on glycaemic control.</p><p><strong>Methods: </strong>A cross-sectional study was conducted from November 2019 to August 2020 on T1DM children between 6 and 18 years old who attended the Paediatric Endocrine Clinic Putrajaya Hospital. Anthropometry and bioelectrical impedance analysis (Inbody 720) were measured to analyse their effects towards glycated haemoglobin (HbA<sub>1c</sub>) via SPSS 21.</p><p><strong>Results: </strong>A total of 63 T1DM were recruited with an equal male-to-female ratio. The mean age was 12.4 ± 3.3 years old with a mean HbA<sub>1c</sub> of 9.8 ± 2.0%. The prevalence of overweight/obese and excessive body fat was 17.5 and 34.9%, respectively. Only 3 (6.8%) fulfilled the metabolic syndrome criteria. The waist circumference had a significant relationship with HbA<sub>1c</sub>. Every 10 cm increment of waist circumference was predicted to raise HbA<sub>1c</sub> by 0.8. The odds ratio of having abdominal obesity among T1DM with excessive body fat was 9.3 times.</p><p><strong>Conclusions: </strong>Abdominal obesity is significantly associated with a poorer glycaemic control in T1DM children. Monitoring of waist circumference should be considered as part of the routine diabetic care.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1474-1480"},"PeriodicalIF":1.4,"publicationDate":"2022-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40569308","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
Infection with SARS-CoV-2 may alter the half-life of desmopressin (DDAVP) in patients with central diabetes insipidus. 感染SARS-CoV-2可能改变中心性尿崩症患者去氨加压素(DDAVP)的半衰期。
IF 1.4
Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2022-10-17 Print Date: 2022-12-16 DOI: 10.1515/jpem-2022-0422
Ilja Dubinski, Susanne Bechtold-Dalla Pozza, Heinrich Schmidt
{"title":"Infection with SARS-CoV-2 may alter the half-life of desmopressin (DDAVP) in patients with central diabetes insipidus.","authors":"Ilja Dubinski,&nbsp;Susanne Bechtold-Dalla Pozza,&nbsp;Heinrich Schmidt","doi":"10.1515/jpem-2022-0422","DOIUrl":"https://doi.org/10.1515/jpem-2022-0422","url":null,"abstract":"<p><p>We present a 9-year-old boy with diabetes insipidus. The boy is treated with desmopressin (DDAVP) therapy. Under this therapy, the drinking quantity and the laboratory parameters were normal. No nocturia occurred any more. In the context of a clinically mild infection with SARS-CoV-2, the duration of action of DDAVP was significantly prolonged (approximately +50%). The original dosage was then reintroduced and was still sufficient until months later. A possible connection to the infection with SARS-CoV-2 can be suspected. Our case report should make physicians who care for patients with diabetes insipidus aware of such a possible prolongation of the effect of DDAVP. More frequent monitoring may be needed in such patients to assess the risk of symptomatic dilutional hyponatremia.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1544-1546"},"PeriodicalIF":1.4,"publicationDate":"2022-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33511881","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
Organic acidemias in the neonatal period: 30 years of experience in a referral center for inborn errors of metabolism. 新生儿期有机酸血症:先天性代谢错误转诊中心30年的经验。
IF 1.4
Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2022-10-10 Print Date: 2022-11-25 DOI: 10.1515/jpem-2021-0780
Yagmur Unsal, Murat Yurdakok, Sule Yigit, Hasan Tolga Celik, Ali Dursun, Hatice Serap Sivri, Aysegul Tokatli, Turgay Coskun
{"title":"Organic acidemias in the neonatal period: 30 years of experience in a referral center for inborn errors of metabolism.","authors":"Yagmur Unsal,&nbsp;Murat Yurdakok,&nbsp;Sule Yigit,&nbsp;Hasan Tolga Celik,&nbsp;Ali Dursun,&nbsp;Hatice Serap Sivri,&nbsp;Aysegul Tokatli,&nbsp;Turgay Coskun","doi":"10.1515/jpem-2021-0780","DOIUrl":"https://doi.org/10.1515/jpem-2021-0780","url":null,"abstract":"<p><strong>Objectives: </strong>Neonatal-onset organic acidemias (OAs) account for 80% of neonatal intensive care unit (NICU) admissions due to inborn errors of metabolism. The aim of this study is to analyze clinical features and follow-up of neonates diagnosed with OAs in a metabolic referral center, focusing on perinatal characteristics and the impact of first the metabolic crisis on long-term outcome.</p><p><strong>Methods: </strong>Perinatal features, clinical and laboratory characteristics on admission and follow-up of 108 neonates diagnosed with OAs were retrospectively analyzed. Global developmental delay, abnormal electroencephalogram (EEG) or brain magnetic resonance imaging (MRI), chronic complications, and overall mortality. Associations between clinical findings on admission and outcome measures were evaluated.</p><p><strong>Results: </strong>Most prevalent OA was maple syrup urine disease (MSUD) (34.3%). Neonates with methylmalonic acidemia (MMA) had significantly lower birth weight (p<0.001). Metabolic acidosis with increased anion gap was more frequent in MMA and propionic acidemia (PA) (p=0.003). 89.1% of OAs were admitted for recurrent metabolic crisis. 46% had chronic non-neurologic complications; 19.3% of MMA had chronic kidney disease. Abnormal findings were present in 26/34 of EEG, 19/29 of MRI studies, and 32/33 of developmental screening tests. Metabolic acidosis on admission was associated with increased incidence of abnormal EEG (p=0.005) and overall mortality (p<0.001). Severe hyperammonemia in MMA was associated with overall mortality (33.3%) (p=0.047). Patients diagnosed between 2007-2017 had lower overall mortality compared to earlier years (p<0.001).</p><p><strong>Conclusions: </strong>Metabolic acidosis and hyperammonemia are emerging predictors of poor outcome and mortality. Based on a large number of infants from a single center, survival in neonatal-onset OA has increased over the course of 30 years, but long-term complications and neurodevelopmental results remain similar. While prompt onset of more effective treatment may improve survival, newer treatment modalities are urgently needed for prevention and treatment of chronic complications.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1345-1356"},"PeriodicalIF":1.4,"publicationDate":"2022-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33491108","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: 2
The long-term growth, cost-effectiveness, and glycemic effects of growth hormone therapy on children born small for gestational age over 10 years: a retrospective cohort study. 生长激素治疗对10岁以上小胎龄儿童的长期生长、成本效益和血糖影响:一项回顾性队列研究
IF 1.4
Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2022-10-07 Print Date: 2022-11-25 DOI: 10.1515/jpem-2022-0379
Reem Abdullah Al Khalifah, Amal Alhakami, Yazed AlRuthia, Hadeel Zohair Al Sarraj, Jumana Abulqasim, Ameinah Al-Rasheedi, Akram NurHussen, Ammar Naji
{"title":"The long-term growth, cost-effectiveness, and glycemic effects of growth hormone therapy on children born small for gestational age over 10 years: a retrospective cohort study.","authors":"Reem Abdullah Al Khalifah,&nbsp;Amal Alhakami,&nbsp;Yazed AlRuthia,&nbsp;Hadeel Zohair Al Sarraj,&nbsp;Jumana Abulqasim,&nbsp;Ameinah Al-Rasheedi,&nbsp;Akram NurHussen,&nbsp;Ammar Naji","doi":"10.1515/jpem-2022-0379","DOIUrl":"https://doi.org/10.1515/jpem-2022-0379","url":null,"abstract":"<p><strong>Objectives: </strong>We aimed to report our 10-year experience of treating short children born small for gestational age (SGA) by comparing the long-term growth, metabolic safety, and cost-effectiveness of recombinant human growth hormone (rhGH) therapy in short children born SGA with those in rhGH-treated children with growth hormone deficiency (GHD) and Turner syndrome.</p><p><strong>Methods: </strong>We performed a 10-year retrospective cohort study at King Saud University Medical City. We included children aged 3-16 years who received rhGH for GHD, SGA, or Turner syndrome for >1 year.</p><p><strong>Results: </strong>A total of 166 children received rhGH therapy for GHD, 58 for SGA, and 16 for Turner syndrome. During the last study visit, the average height change was 21 cm for GHD children and 14 cm for children born SGA (p-value <0.001). The height SDS change was 0.84 for GHD children and 0.55 for SGA children (p-value=0.004). The average cost-effectiveness ratios for treating GHD and SGA children were USD 1,717.22 and USD 1,157.19 per centimeter gained, respectively. Moreover, the mean incremental cost-effectiveness ratio for GHD vs. SGA patients was USD 2,820.39 per centimeter gained. Dysglycemia developed in 70 patients: 43 (36.44%), 22 (40.74%), and 5 (13%) in the GHD, SGA, and Turner syndrome groups, respectively.</p><p><strong>Conclusions: </strong>rhGH is effective in height improvement of short children. However, pursuing rhGH treatment for children born SGA requires a shared decision-making approach to balance the modest benefit of final adult height gain with the long-term metabolic effects, considering the acceptable costs on the Saudi healthcare system.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1357-1368"},"PeriodicalIF":1.4,"publicationDate":"2022-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33492328","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: 1
The association between plasma carnitines and duration of diabetic ketoacidosis treatment in children with type 1 diabetes. 血浆肉碱与1型糖尿病儿童酮症酸中毒治疗时间的关系
IF 1.4
Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2022-10-06 Print Date: 2022-12-16 DOI: 10.1515/jpem-2022-0431
Deniz Okdemir, Aysel Acikgozoglu, Abdurrahman Akgun, Ihsan Esen
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