Felix Reschke, L. Galuschka, Sarah Landsberg, C. Weiner, C. Guntermann, E. Sadeghian, K. Lange, T. Danne
Abstract Objectives To investigate if digital approaches can ameliorate the known consequences of social-distancing restrictions in the context of the global COVID-19 pandemic for adolescent participants originally registered for a face-to-face outpatient weight regulation program and whether video-based multiprofessional outpatient obesity therapy is successful for a group of adolescents with preexisting obesity. Methods The certified KiCK outpatient training program for children and adolescents with overweight and obesity was remodeled as a consequence of the lockdown traditional face-to-face program to a completely digital and video-based format on short notice. The virtual approach was compared with the results of the conventional program regarding metabolic parameters, body mass index standard deviation score (BMI SDS), well-being, and physical fitness. Results Sixty-nine of 77 enrolled participants for KiCK (age 8 to 17 years, BMI z score >2.0) were able and willing to participate virtually. After the first lockdown significant improvements of BMI SDS (mean 0.18; p=0.02), homeostasis model assessment (HOMA) index (mean 1.4; p=0.016), triglycerides (mean 0.18 mmol/dL; p=0.021), 6 minute-walk-test (mean 97.0 m; p=0.030, and well-being according to the World Health Organization 5 (WHO-5) questionnaire (mean 2.5; p=0.002) were found after the virtual intervention, which was comparable to the results observed previously in matched pairs data from the program during the pre-COVID period. After the end of the second lockdown weight SDS, BMI SDS, HOMA INDEX, and cholesterol were also measured reduced compared to baseline parameters measured before program initiation. Walking distance in the 6 MWT and improvement in general well-being in the WHO-5 questionnaire also persisted. Conclusions These results indicate good acceptance and efficacy of the video-intervention for youth with overweight and obesity during the lockdown, supporting the use of virtual modules in future programs after the pandemic.
{"title":"Successful telehealth transformation of a pediatric outpatient obesity teaching program due to the COVID-19 pandemic – the “Video KiCK” program","authors":"Felix Reschke, L. Galuschka, Sarah Landsberg, C. Weiner, C. Guntermann, E. Sadeghian, K. Lange, T. Danne","doi":"10.1515/jpem-2022-0104","DOIUrl":"https://doi.org/10.1515/jpem-2022-0104","url":null,"abstract":"Abstract Objectives To investigate if digital approaches can ameliorate the known consequences of social-distancing restrictions in the context of the global COVID-19 pandemic for adolescent participants originally registered for a face-to-face outpatient weight regulation program and whether video-based multiprofessional outpatient obesity therapy is successful for a group of adolescents with preexisting obesity. Methods The certified KiCK outpatient training program for children and adolescents with overweight and obesity was remodeled as a consequence of the lockdown traditional face-to-face program to a completely digital and video-based format on short notice. The virtual approach was compared with the results of the conventional program regarding metabolic parameters, body mass index standard deviation score (BMI SDS), well-being, and physical fitness. Results Sixty-nine of 77 enrolled participants for KiCK (age 8 to 17 years, BMI z score >2.0) were able and willing to participate virtually. After the first lockdown significant improvements of BMI SDS (mean 0.18; p=0.02), homeostasis model assessment (HOMA) index (mean 1.4; p=0.016), triglycerides (mean 0.18 mmol/dL; p=0.021), 6 minute-walk-test (mean 97.0 m; p=0.030, and well-being according to the World Health Organization 5 (WHO-5) questionnaire (mean 2.5; p=0.002) were found after the virtual intervention, which was comparable to the results observed previously in matched pairs data from the program during the pre-COVID period. After the end of the second lockdown weight SDS, BMI SDS, HOMA INDEX, and cholesterol were also measured reduced compared to baseline parameters measured before program initiation. Walking distance in the 6 MWT and improvement in general well-being in the WHO-5 questionnaire also persisted. Conclusions These results indicate good acceptance and efficacy of the video-intervention for youth with overweight and obesity during the lockdown, supporting the use of virtual modules in future programs after the pandemic.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":"101 1","pages":"803 - 812"},"PeriodicalIF":0.0,"publicationDate":"2022-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89013883","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}
Parisa Eslami, F. Sayarifard, R. Safdari, L. Shahmoradi, Z. Karbasi
Abstract Background Registries are considered valuable data sources for identification of pediatric conditions treated with growth hormone (GH), and their follow-up. Currently, there is no systematic literature review on the scope and characteristics of pediatric GH registries. Therefore, the purpose of this systematic review is to identify worldwide registries reported on pediatric GH treatment and to provide a summary of their main characteristics. Content Pediatric GH registries were identified through a systematic literature review. The search was performed on all related literature published up to January 30th, 2021. Basic information on pediatric GH registries, their type and scope, purpose, sources of data, target conditions, reported outcomes, and important variables were analyzed and presented. Summary Twenty two articles, reporting on 20 pediatric GH registries, were included in this review. Industrial funding was the most common funding source. The main target conditions included in the pediatric GH registries were: growth hormone deficiency, Turner syndrome, Prader Willi syndrome, small for gestational age, idiopathic short stature, and chronic renal insufficiency. The main objectives in establishing and running pediatric GH registries were assessing the safety and effectiveness of the treatment, describing the epidemiological aspects of target growth conditions and populations, serving public health surveillance, predicting and measuring treatment outcomes, exploring new and useful aspects of GH treatment, and improving the quality of patient care. Outlook This systematic review provides a global perspective on pediatric GH registries which can be used as a basis for the design and development of new GH registry systems at both national and international levels.
{"title":"Global perspective on pediatric growth hormone registries: a systematic review","authors":"Parisa Eslami, F. Sayarifard, R. Safdari, L. Shahmoradi, Z. Karbasi","doi":"10.1515/jpem-2022-0045","DOIUrl":"https://doi.org/10.1515/jpem-2022-0045","url":null,"abstract":"Abstract Background Registries are considered valuable data sources for identification of pediatric conditions treated with growth hormone (GH), and their follow-up. Currently, there is no systematic literature review on the scope and characteristics of pediatric GH registries. Therefore, the purpose of this systematic review is to identify worldwide registries reported on pediatric GH treatment and to provide a summary of their main characteristics. Content Pediatric GH registries were identified through a systematic literature review. The search was performed on all related literature published up to January 30th, 2021. Basic information on pediatric GH registries, their type and scope, purpose, sources of data, target conditions, reported outcomes, and important variables were analyzed and presented. Summary Twenty two articles, reporting on 20 pediatric GH registries, were included in this review. Industrial funding was the most common funding source. The main target conditions included in the pediatric GH registries were: growth hormone deficiency, Turner syndrome, Prader Willi syndrome, small for gestational age, idiopathic short stature, and chronic renal insufficiency. The main objectives in establishing and running pediatric GH registries were assessing the safety and effectiveness of the treatment, describing the epidemiological aspects of target growth conditions and populations, serving public health surveillance, predicting and measuring treatment outcomes, exploring new and useful aspects of GH treatment, and improving the quality of patient care. Outlook This systematic review provides a global perspective on pediatric GH registries which can be used as a basis for the design and development of new GH registry systems at both national and international levels.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":"58 1","pages":"709 - 726"},"PeriodicalIF":0.0,"publicationDate":"2022-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73492439","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}
Abstract Objectives Glycemic control is an important parameter that can predict long-term complications of diabetes mellitus. It can be affected by many factors. Hence, identifying those factors for improving disease outcomes is essential. The purpose of this study was to assess glycemic control in children who were treated with a conventional insulin regimen and to identify its associated factors. Methods A retrospective cohort study was conducted among children with type one diabetes mellitus (T1DM) who had follow-up from November 2015 to November 2020 at the pediatric endocrinology clinic of St. Paul’s Hospital Millennium Medical College in Addis Ababa, Ethiopia. Glycemic control was assessed by measuring glycosylated hemoglobin (HbA1C) and children who had HbA1C within three to six months of the data collection were recruited. Results A total of 106 children with TIDM who were on conventional insulin therapy were included in this study. Their median age at diagnosis was nine years, 47.2% were females, and 57.5% were from urban areas. The average HbA1c of the children was 9.7%. The majority (85.2%) of the children had poor glycemic control (>7.5%). Younger age, longer disease duration, and urban residence were found to be significant predictors of good glycemic control. Conclusions A significant majority of children with T1DM had poor glycemic control. This calls for the need to create access to intensive diabetes care by health authorities and stakeholders to prevent the long-term complications of T1DM.
{"title":"Glycemic control among children with type 1 diabetes mellitus and its determinants in a resource-limited setting","authors":"Bereket Fantahun, T. W. Leulseged","doi":"10.1515/jpem-2022-0144","DOIUrl":"https://doi.org/10.1515/jpem-2022-0144","url":null,"abstract":"Abstract Objectives Glycemic control is an important parameter that can predict long-term complications of diabetes mellitus. It can be affected by many factors. Hence, identifying those factors for improving disease outcomes is essential. The purpose of this study was to assess glycemic control in children who were treated with a conventional insulin regimen and to identify its associated factors. Methods A retrospective cohort study was conducted among children with type one diabetes mellitus (T1DM) who had follow-up from November 2015 to November 2020 at the pediatric endocrinology clinic of St. Paul’s Hospital Millennium Medical College in Addis Ababa, Ethiopia. Glycemic control was assessed by measuring glycosylated hemoglobin (HbA1C) and children who had HbA1C within three to six months of the data collection were recruited. Results A total of 106 children with TIDM who were on conventional insulin therapy were included in this study. Their median age at diagnosis was nine years, 47.2% were females, and 57.5% were from urban areas. The average HbA1c of the children was 9.7%. The majority (85.2%) of the children had poor glycemic control (>7.5%). Younger age, longer disease duration, and urban residence were found to be significant predictors of good glycemic control. Conclusions A significant majority of children with T1DM had poor glycemic control. This calls for the need to create access to intensive diabetes care by health authorities and stakeholders to prevent the long-term complications of T1DM.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":"435 1","pages":"813 - 817"},"PeriodicalIF":0.0,"publicationDate":"2022-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83619285","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}
Nadya Birdus, M. Grant, P. Stevenson, C. Choong, A. Siafarikas
Abstract Objectives There is a paucity of information regarding the profile of entire paediatric endocrine clinics and how they are changing. This study aimed to analyse the clinic profile of the Western Australian tertiary paediatric endocrine outpatient service over 10 years and compare to national and international data. Methods Retrospective analysis of the Western Australian Paediatric Endocrine Database (WAPED) between 2007 and 2017 looking at the frequency, proportion and longitudinal change of diagnosis categories, specific diagnoses, and gender breakdown. Results In total, 2,791 endocrine diagnoses were recorded for 2,312 patients. The most frequent reason for referral (22.1% of patients), was for evaluation of abnormalities in thyroid function. The most common diagnosis being hypothyroidism (76.7%). Evaluation of short stature was the reason for referral in 19.2% of patients, 14.6% of whom were diagnosed with growth hormone deficiency. Evaluation of puberty disorders, syndromes with endocrine features and disorders of calcium and phosphate metabolism were other common reasons for clinic referral, seen in 11.3, 9.8 and 8.2% of patients respectively. Between 2007 and 2017, the odds ratio of a thyroid diagnosis increased by 1.07 per year (95% CI: 1.02–1.12), whilst the odds ratio of a short stature diagnosis decreased by 0.91 per year (95% CI: 0.87–0.95). Conclusions The profile of the WAPED is similar to previously published national and international data. The analysis of the profile of diagnoses and its longitudinal change over a ten-year period offer a unique opportunity to guide clinic planning, resource allocation and future research.
{"title":"Ten year analysis of the clinic profile of the tertiary paediatric endocrine service in Western Australia","authors":"Nadya Birdus, M. Grant, P. Stevenson, C. Choong, A. Siafarikas","doi":"10.1515/jpem-2022-0055","DOIUrl":"https://doi.org/10.1515/jpem-2022-0055","url":null,"abstract":"Abstract Objectives There is a paucity of information regarding the profile of entire paediatric endocrine clinics and how they are changing. This study aimed to analyse the clinic profile of the Western Australian tertiary paediatric endocrine outpatient service over 10 years and compare to national and international data. Methods Retrospective analysis of the Western Australian Paediatric Endocrine Database (WAPED) between 2007 and 2017 looking at the frequency, proportion and longitudinal change of diagnosis categories, specific diagnoses, and gender breakdown. Results In total, 2,791 endocrine diagnoses were recorded for 2,312 patients. The most frequent reason for referral (22.1% of patients), was for evaluation of abnormalities in thyroid function. The most common diagnosis being hypothyroidism (76.7%). Evaluation of short stature was the reason for referral in 19.2% of patients, 14.6% of whom were diagnosed with growth hormone deficiency. Evaluation of puberty disorders, syndromes with endocrine features and disorders of calcium and phosphate metabolism were other common reasons for clinic referral, seen in 11.3, 9.8 and 8.2% of patients respectively. Between 2007 and 2017, the odds ratio of a thyroid diagnosis increased by 1.07 per year (95% CI: 1.02–1.12), whilst the odds ratio of a short stature diagnosis decreased by 0.91 per year (95% CI: 0.87–0.95). Conclusions The profile of the WAPED is similar to previously published national and international data. The analysis of the profile of diagnoses and its longitudinal change over a ten-year period offer a unique opportunity to guide clinic planning, resource allocation and future research.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":"72 1","pages":"785 - 794"},"PeriodicalIF":0.0,"publicationDate":"2022-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73873843","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}
Abstract Overweight and obesity affect approximately 1/3 of children in the United States and are risk factors for prediabetes and type 2 diabetes. Progression from prediabetes to diabetes carries substantial long-term health burdens, culminating in decreased life-expectancy. Earlier development of type 2 diabetes is associated with poorer prognoses, and children lose glycemic control more rapidly than adults. Metformin is approved by the USFDA for the treatment of type 2 diabetes in children, has limited toxicity, and may help prevent the development of type 2 diabetes. The more rapid disease progression in children and the safety of metformin suggests that initiation of metformin treatment to children with prediabetes who have not effectively responded to lifestyle changes may help prevent short- and long-term health damage resulting from prediabetic and diabetic dysglycemia.
{"title":"Considering metformin as a second-line treatment for children and adolescents with prediabetes","authors":"C. Hosey, Kelsee Halpin, Yun Yan","doi":"10.1515/jpem-2021-0200","DOIUrl":"https://doi.org/10.1515/jpem-2021-0200","url":null,"abstract":"Abstract Overweight and obesity affect approximately 1/3 of children in the United States and are risk factors for prediabetes and type 2 diabetes. Progression from prediabetes to diabetes carries substantial long-term health burdens, culminating in decreased life-expectancy. Earlier development of type 2 diabetes is associated with poorer prognoses, and children lose glycemic control more rapidly than adults. Metformin is approved by the USFDA for the treatment of type 2 diabetes in children, has limited toxicity, and may help prevent the development of type 2 diabetes. The more rapid disease progression in children and the safety of metformin suggests that initiation of metformin treatment to children with prediabetes who have not effectively responded to lifestyle changes may help prevent short- and long-term health damage resulting from prediabetic and diabetic dysglycemia.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":"16 1","pages":"727 - 732"},"PeriodicalIF":0.0,"publicationDate":"2022-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85445327","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}
S. Ngo Um, R. M. Betoko, I. Mekone, Adéle Bodieu Chetcha, V. Tardy, S. Dahoun, P. Mure, I. Plotton, Y. Morel, Martine Claude Etoa Etoga, Jocelyn Tony Nengom, B. Moifo, F. Tambo, E. Sobngwi, P. K. Ndombo
Abstract Objectives Congenital adrenal hyperplasia (CAH) remains one of the most challenging endocrine disorders to diagnose, manage, and treat, especially in Africa where there is lack of neonatal screening program, and limited access to care. Data on biomolecular anomaly are sparse, therefore type of mutations are unknown, increasing management challenges and genetic counseling. The present study aims to describe clinical, biomolecular aspects of a group of Cameroonian patients. Methods We did an observational retrospective study at the pediatric endocrinology unit of the Mother and Child Centre of the Chantal Biya Foundation in Yaounde from May 2013 to December 2019, including all patients diagnosed with CAH. Results We consecutively included 31 patients aged less than 21 years, diagnosed CAH. Median age at diagnosis was 1.71 years (IQR 0.08–2.57 years). Abnormal genitalia was the main complain in 48.4%(n=15). The most prevalent genetic anomaly found in our study population (n=24) was on CYP11, found in 16 patients (66.6%) followed by CYP21A2 mutation found in 8 patients. Homozygous mutation of p.Q356X was found in half of patients with 11 hydroxylase deficiency. This mutation was mostly found in people from semi-Bantu tribes, declared non consanguineous. Conclusions 11 hydroxylase deficiency is the most prevalent form of CAH found in this group of Cameroonian children.
{"title":"Clinical, biochemical, and biomolecular aspects of congenital adrenal hyperplasia in a group of Cameroonian children and adolescents","authors":"S. Ngo Um, R. M. Betoko, I. Mekone, Adéle Bodieu Chetcha, V. Tardy, S. Dahoun, P. Mure, I. Plotton, Y. Morel, Martine Claude Etoa Etoga, Jocelyn Tony Nengom, B. Moifo, F. Tambo, E. Sobngwi, P. K. Ndombo","doi":"10.1515/jpem-2021-0696","DOIUrl":"https://doi.org/10.1515/jpem-2021-0696","url":null,"abstract":"Abstract Objectives Congenital adrenal hyperplasia (CAH) remains one of the most challenging endocrine disorders to diagnose, manage, and treat, especially in Africa where there is lack of neonatal screening program, and limited access to care. Data on biomolecular anomaly are sparse, therefore type of mutations are unknown, increasing management challenges and genetic counseling. The present study aims to describe clinical, biomolecular aspects of a group of Cameroonian patients. Methods We did an observational retrospective study at the pediatric endocrinology unit of the Mother and Child Centre of the Chantal Biya Foundation in Yaounde from May 2013 to December 2019, including all patients diagnosed with CAH. Results We consecutively included 31 patients aged less than 21 years, diagnosed CAH. Median age at diagnosis was 1.71 years (IQR 0.08–2.57 years). Abnormal genitalia was the main complain in 48.4%(n=15). The most prevalent genetic anomaly found in our study population (n=24) was on CYP11, found in 16 patients (66.6%) followed by CYP21A2 mutation found in 8 patients. Homozygous mutation of p.Q356X was found in half of patients with 11 hydroxylase deficiency. This mutation was mostly found in people from semi-Bantu tribes, declared non consanguineous. Conclusions 11 hydroxylase deficiency is the most prevalent form of CAH found in this group of Cameroonian children.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":"21 1","pages":"777 - 783"},"PeriodicalIF":0.0,"publicationDate":"2022-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81556996","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}
Abstract Introduction Bone age (BA) is a quantitative determination of skeletal maturation. The role of puberty in variations in BA is poorly understood as hypothalamic-pituitary-gonadal (HPG) axis maturation and skeletal maturation are regulated in parallel but independently by multiple different factors. In countries like India where there is rapid nutrition transition and increase in prevalence of obesity, their impact on height and BA is not well understood. Objectives To study if in 2–17 year old healthy children, the difference between chronological age (CA), height age (HA) and BA is less than 1 year on either side of the chronological age and to assess relationship of BA with height, weight and BMI with special reference to gender and puberty. Methods This cross-sectional study included 804 preschool/school-going Indian children. Anthropometric measurements and pubertal assessments were performed using standard protocols and were converted to age and sex standardized z-scores using Indian references while BA was estimated by Tanner-Whitehouse (TW3) method. p<0.05 was considered statistically significant. Results The mean age and gender standardized z-scores for height, weight, body mass index (BMI) and BA were −0.3 ± 0.7, −0.7 ± 0.8, −0.1 ± 1.0, and −0.2 ± 0.9 respectively. HA was more delayed in girls while BA was more delayed in boys. The mean BA z-score increased with increasing BMI. After the onset of puberty, there was higher increment in BA in girls and HA in boys (p<0.05). Conclusions HA, BA and CA were tightly correlated in healthy Indian children with a significant role of nutritional status and puberty in causing variation in the same.
{"title":"Relationship between height age, bone age and chronological age in normal children in the context of nutritional and pubertal status","authors":"V. Khadilkar, C. Oza, A. Khadilkar","doi":"10.1515/jpem-2021-0698","DOIUrl":"https://doi.org/10.1515/jpem-2021-0698","url":null,"abstract":"Abstract Introduction Bone age (BA) is a quantitative determination of skeletal maturation. The role of puberty in variations in BA is poorly understood as hypothalamic-pituitary-gonadal (HPG) axis maturation and skeletal maturation are regulated in parallel but independently by multiple different factors. In countries like India where there is rapid nutrition transition and increase in prevalence of obesity, their impact on height and BA is not well understood. Objectives To study if in 2–17 year old healthy children, the difference between chronological age (CA), height age (HA) and BA is less than 1 year on either side of the chronological age and to assess relationship of BA with height, weight and BMI with special reference to gender and puberty. Methods This cross-sectional study included 804 preschool/school-going Indian children. Anthropometric measurements and pubertal assessments were performed using standard protocols and were converted to age and sex standardized z-scores using Indian references while BA was estimated by Tanner-Whitehouse (TW3) method. p<0.05 was considered statistically significant. Results The mean age and gender standardized z-scores for height, weight, body mass index (BMI) and BA were −0.3 ± 0.7, −0.7 ± 0.8, −0.1 ± 1.0, and −0.2 ± 0.9 respectively. HA was more delayed in girls while BA was more delayed in boys. The mean BA z-score increased with increasing BMI. After the onset of puberty, there was higher increment in BA in girls and HA in boys (p<0.05). Conclusions HA, BA and CA were tightly correlated in healthy Indian children with a significant role of nutritional status and puberty in causing variation in the same.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":"14 1","pages":"767 - 775"},"PeriodicalIF":0.0,"publicationDate":"2022-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91262846","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}
K. Hawton, R. Doffinger, A. Ramanan, S. L. Langton Hewer, H. Evans, D. Giri, Julian Hamilton Shield
Abstract Objectives Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation, and neural-crest tumour (ROHHAD(NET)) is a rare syndrome presenting in early childhood associated with high morbidity and mortality. There is no specific diagnostic biomarker and diagnosis is based on clinical features. An autoimmune origin has been postulated. Case presentation Management is largely supportive. We report a case of a five-year old female who presented in respiratory arrest after 6-months of rapid weight gain. She had central hypoventilation, central diabetes insipidus, growth hormone deficiency and hyperprolactinaemia. She displayed elevated interleukin-6 levels on cytokine serology which normalised after rituximab treatment. After rituximab treatment, her weight reduced significantly from greatly above the 99.6th to the 50th centile in 12 months. Conclusions This response possibly reflects an underlying, immune-inflammatory pathology driving excess adiposity in this condition. Potentially, other aspects of ROHHAD(NET) may be mediated through autoimmune dysregulation in which case rituximab may provide benefits for prognosis and survival.
{"title":"Rituximab therapy in ROHHAD(NET) syndrome","authors":"K. Hawton, R. Doffinger, A. Ramanan, S. L. Langton Hewer, H. Evans, D. Giri, Julian Hamilton Shield","doi":"10.1515/jpem-2022-0085","DOIUrl":"https://doi.org/10.1515/jpem-2022-0085","url":null,"abstract":"Abstract Objectives Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation, and neural-crest tumour (ROHHAD(NET)) is a rare syndrome presenting in early childhood associated with high morbidity and mortality. There is no specific diagnostic biomarker and diagnosis is based on clinical features. An autoimmune origin has been postulated. Case presentation Management is largely supportive. We report a case of a five-year old female who presented in respiratory arrest after 6-months of rapid weight gain. She had central hypoventilation, central diabetes insipidus, growth hormone deficiency and hyperprolactinaemia. She displayed elevated interleukin-6 levels on cytokine serology which normalised after rituximab treatment. After rituximab treatment, her weight reduced significantly from greatly above the 99.6th to the 50th centile in 12 months. Conclusions This response possibly reflects an underlying, immune-inflammatory pathology driving excess adiposity in this condition. Potentially, other aspects of ROHHAD(NET) may be mediated through autoimmune dysregulation in which case rituximab may provide benefits for prognosis and survival.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":"70 1","pages":"1102 - 1106"},"PeriodicalIF":0.0,"publicationDate":"2022-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86770940","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}
Emre Murat Altınkılıç, Selami Bayrakdar, Gülcan Seymen Karabulut, B. Haliloglu, R. Attar
Abstract Objectives Leptin resistance is one of the important causes of obesity in children. Besides known causes of leptin resistance like mutations in leptin and leptin receptor genes, overexpression of SOCS3 in arcuate nucleus is a potential cause of leptin resistance. We aimed to determine the effects of circulating miRNAs on leptin resistance in obese children by targeting SOCS3 pathway. Methods miRNAs potentially targeting SOCS3 were determined by using online target prediction databases. Polymorphisms in miRNA target sequences were determined by using online genome browsers. miRNA expression levels of obese (n=35) and non-obese (n=30) children were determined by qPCR method, genotyping were performed by real-time PCR method and serum leptin, leptin receptor and SOCS3 levels were measured by ELISA method. Results miRNA profiling have shown that serum miR-218-5p levels are significantly (p<0.05) increased in accordance with serum leptin levels in obese children. Conclusions In this study we used target prediction methods for evaluating potential miRNAs which may involve in development of leptin resistance. We have shown that miR-218-5p might be taking part in leptin resistance in obese children.
{"title":"The role of circulating miRNAs in leptin resistance in obese children","authors":"Emre Murat Altınkılıç, Selami Bayrakdar, Gülcan Seymen Karabulut, B. Haliloglu, R. Attar","doi":"10.1515/jpem-2022-0063","DOIUrl":"https://doi.org/10.1515/jpem-2022-0063","url":null,"abstract":"Abstract Objectives Leptin resistance is one of the important causes of obesity in children. Besides known causes of leptin resistance like mutations in leptin and leptin receptor genes, overexpression of SOCS3 in arcuate nucleus is a potential cause of leptin resistance. We aimed to determine the effects of circulating miRNAs on leptin resistance in obese children by targeting SOCS3 pathway. Methods miRNAs potentially targeting SOCS3 were determined by using online target prediction databases. Polymorphisms in miRNA target sequences were determined by using online genome browsers. miRNA expression levels of obese (n=35) and non-obese (n=30) children were determined by qPCR method, genotyping were performed by real-time PCR method and serum leptin, leptin receptor and SOCS3 levels were measured by ELISA method. Results miRNA profiling have shown that serum miR-218-5p levels are significantly (p<0.05) increased in accordance with serum leptin levels in obese children. Conclusions In this study we used target prediction methods for evaluating potential miRNAs which may involve in development of leptin resistance. We have shown that miR-218-5p might be taking part in leptin resistance in obese children.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":"23 1","pages":"761 - 766"},"PeriodicalIF":0.0,"publicationDate":"2022-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80026343","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}
L. Gong, N. Yang, Jin-qi Zhao, Yueling Tang, Lulu Li, Hai-he Yang, Y. Kong
Abstract Objectives Iodide transport defect (ITD) is one of the principal causes of congenital hypothyroidism (CH) and its primary molecular mechanism is a mutation of the sodium/iodide symporter (NIS) gene. This study aims to analyse the clinical characteristics and genetic mutations of ITD. Methods The participants were a pair of siblings diagnosed with congenital hypothyroidism. Inductively coupled plasma mass spectrometry was used to determine the concentration of salivary iodine and serum iodine and to calculate their ratio. At the same time, next-generation sequencing (NGS) was applied to detect all exons of congenital hypothyroidism-related genes. All suspicious variants were further validated in the patients and their parents by PCR and Sanger sequencing. Results Both patients were conclusively diagnosed with thyroid iodine transport defect (ITD). NGS identified two variants of the NIS gene in the siblings: c.1021G>A (p.Gly341Arg) with paternal origin and c.1330-2A>C with maternal origin. Both of these variants have not been reported to date. They are predicted to be pathogenic based on these clinical symptoms and comprehensive software analysis. Conclusions This is the first reported family study of congenital hypothyroidism with SLC5A5 mutation in China. Next-generation sequencing technology is an effective means of studying the genetics of congenital hypothyroidism. The therapeutic effect of potassium iodide needs to be further evaluated.
{"title":"Clinical characteristics and genetics analysis for the ITD of congenital hypothyroidism","authors":"L. Gong, N. Yang, Jin-qi Zhao, Yueling Tang, Lulu Li, Hai-he Yang, Y. Kong","doi":"10.1515/jpem-2022-0052","DOIUrl":"https://doi.org/10.1515/jpem-2022-0052","url":null,"abstract":"Abstract Objectives Iodide transport defect (ITD) is one of the principal causes of congenital hypothyroidism (CH) and its primary molecular mechanism is a mutation of the sodium/iodide symporter (NIS) gene. This study aims to analyse the clinical characteristics and genetic mutations of ITD. Methods The participants were a pair of siblings diagnosed with congenital hypothyroidism. Inductively coupled plasma mass spectrometry was used to determine the concentration of salivary iodine and serum iodine and to calculate their ratio. At the same time, next-generation sequencing (NGS) was applied to detect all exons of congenital hypothyroidism-related genes. All suspicious variants were further validated in the patients and their parents by PCR and Sanger sequencing. Results Both patients were conclusively diagnosed with thyroid iodine transport defect (ITD). NGS identified two variants of the NIS gene in the siblings: c.1021G>A (p.Gly341Arg) with paternal origin and c.1330-2A>C with maternal origin. Both of these variants have not been reported to date. They are predicted to be pathogenic based on these clinical symptoms and comprehensive software analysis. Conclusions This is the first reported family study of congenital hypothyroidism with SLC5A5 mutation in China. Next-generation sequencing technology is an effective means of studying the genetics of congenital hypothyroidism. The therapeutic effect of potassium iodide needs to be further evaluated.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":"130 1","pages":"741 - 748"},"PeriodicalIF":0.0,"publicationDate":"2022-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81223092","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}
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