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Real-world Clinical Study of Recombinant Human Growth Hormone in the Treatment of Idiopathic Short Stature
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作者 Jianhua Liu Jin Shi 《Journal of Clinical and Nursing Research》 2025年第4期155-160,共6页
Objective:To investigate the clinical efficacy and safety evaluation of Polyethylene Glycol Recombinant Human Growth Hormone Injection(PEG-rhGH)in the treatment of idiopathic short stature.Methods:A total of 1402 pati... Objective:To investigate the clinical efficacy and safety evaluation of Polyethylene Glycol Recombinant Human Growth Hormone Injection(PEG-rhGH)in the treatment of idiopathic short stature.Methods:A total of 1402 patients were enrolled from March 21,2024 to January 13,2025,including 778 males and 624 females,with ages mainly ranging from 5 to 13 years old.Follow-up visits were completed by 488 patients for the first time,174 patients for the second time,and 81 patients for the third time.All patients were treated with PEG-rhGH(Jin Sai Zeng)as the main therapy after admission.The changes in height information,IGF-1,and thyroid examination results of each patient at the initial diagnosis,6,9,and 12 months after treatment were observed and analyzed.Results:There was no statistical difference between the baseline and the initial diagnosis,as well as the second follow-up visit(P<0.05),while there was a statistical difference between the baseline and the first and third follow-up visits(P>0.05).There was a statistically significant difference in IGF-1 between the initial diagnosis and the first follow-up visit(P<0.05),but no statistical difference between the first,second,and third follow-up visits(P>0.05).Additionally,IGF-1 levels increased with time.There was no statistical difference in TSH between the initial diagnosis and the first,second,and third follow-up visits(P>0.05).There was a statistical difference in free T3 between the initial diagnosis and the first and second follow-up visits(P<0.05),but no statistical difference between the second and third follow-up visits(P>0.05).There was no statistical difference in free T4 between the initial diagnosis and the first and second follow-up visits(P>0.05),but there was a statistical difference between the second and third follow-up visits(P<0.05).Conclusion:PEG-rhGH(Jin Sai Zeng)is significantly effective in improving height and IGF-1 levels in patients with idiopathic short stature. 展开更多
关键词 Recombinant human growth hormone Idiopathic short stature Clinical efficacy
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Secular Change in Stature of Urban Chinese Children and Adolescents, 1985-2010 被引量:9
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作者 CHEN Tian Jiao JI Cheng Ye 《Biomedical and Environmental Sciences》 SCIE CAS CSCD 2013年第1期13-22,共10页
Objective Research evidence shows a secular trend in Chinese physical growth in recent years.The aim of this study was to analyze and assess changes in stature of children and adolescents during the 25 years from 1985... Objective Research evidence shows a secular trend in Chinese physical growth in recent years.The aim of this study was to analyze and assess changes in stature of children and adolescents during the 25 years from 1985‐2010,using national data.Methods Data came from successive cycles of the Chinese National Survey on Students' Constitution and Health(CNSSCH).Subjects were 7‐ to 18‐year‐old children and adolescents.Results An overall positive secular trend occurred in urban China during 1985‐2010.The overall average rates of increment were 2.4 and 1.7 cm/decade for boys and girls,respectively.Total increases in adult stature for boys and girls were 2.6 and 1.7 cm,yielding rates of 1.0 and 0.7 cm/decade,respectively.Cities with different socioeconomic levels had different characteristic trends.Mean stature increases in big cities were larger than those in moderate and small cities,and boys and girls in moderate and small cities showed greater potential for growth in stature.Conclusion An overall positive secular growth trend was associated with socioeconomic progress and differed with area socioeconomic levels.School policies and strategies should be developed based on increased stature,and should continue narrowing the inequity between different socioeconomic populations. 展开更多
关键词 Secular change stature GROWTH Socioeconomic disparity Children and adolescents
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Secular Changes of Stature in Rural Children and Adolescents in China, 1985-2010 被引量:9
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作者 CHEN Tian Jiao JI Cheng Ye 《Biomedical and Environmental Sciences》 SCIE CAS CSCD 2014年第8期573-581,共9页
Objective To analyze and assess secular change in stature in rural children and adolescents in China from 1985 to 2010. Methods Data were obtained from the 6 rounds of the Chinese National Survey on Student's Constit... Objective To analyze and assess secular change in stature in rural children and adolescents in China from 1985 to 2010. Methods Data were obtained from the 6 rounds of the Chinese National Survey on Student's Constitution and Health. The subjects enrolled in the study were children and adolescents aged 7-18 years in rural areas of provincial capitals. Results An overall positive secular trend in stature occurred in rural areas of provincial capitals in China from 1985 to 2010. The overall average increase rates were 3.1 and 2.4 cm/decade for boys and girls, respectively. The total body height increases for grown up boys and girls were 3.6 and 2.3 cm and the increase rates were 1.4 and 0.9 cm/decade, respectively. There were differences in body height increase among eastern, central and western regions. The average body height of the children or adolescents in eastern region was highest, followed by central region and western region. The overall increase rates in central region were highest among the three regions. The difference between eastern/central region and western region was obvious. 〈br〉 Conclusion Positive secular trend in stature of children or adolescents has occurred in rural area of China, and rural boys and girls showed a great potential for continuous growth. More attention should be paid to the differences in children's body height between western region and eastern/central region. 展开更多
关键词 Secular change stature Rural population Regional difference Child and adolescent
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Blood pressure and stature in Helicobacter pylori positive and negative persons 被引量:9
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作者 Marcela Kopacova Ilona Koupil +7 位作者 Bohumil Seifert Miluska Skodova Fendrichova Jana Spirkova Viktor Vorisek Stanislav Rejchrt Tomas Douda Ilja Tacheci Jan Bures 《World Journal of Gastroenterology》 SCIE CAS 2014年第19期5625-5631,共7页
To evaluate vital signs and body indices in Helicobacter pylori (H. pylori) positive and negative persons. A total of 22 centres entered the study. They were spread over the whole country, corresponding well to the ge... To evaluate vital signs and body indices in Helicobacter pylori (H. pylori) positive and negative persons. A total of 22 centres entered the study. They were spread over the whole country, corresponding well to the geographical distribution of the Czech population. A total of 1818 subjects (aged 5-98 years) took part in the study, randomly selected out of 38147 subjects. H. pylori infection was investigated by means of a 13C-urea breath test. Data on height, weight, systolic and diastolic blood pressure and heart rate were collected at the clinics of general practitioners. The overall prevalence of H. pylori infection was 30.4% (402/1321) in adults (&#x02265; 18 year-old) and 5.2% (26/497) in children and adolescents (&#x02264; 17 year-old). Once adjusted for age and gender, only a difference in body mass index remained statistically significant with H. pylori positive adults showing an increase of 0.6 kg/m<sup>2</sup> in body mass index. Once adjusted for age and gender, we found a difference in height between H. pylori positive and H. pylori negative children and adolescents. On further adjustment for place of residence, this difference became statistically significant, with H. pylori positive children and adolescents being on average 3.5 cm shorter. H. pylori positive adults were significantly older compared to H. pylori negative subjects. Once adjusted for age and gender, H. pylori infection had no impact on body weight, body mass index and vital signs either in adults or children and adolescents. Chronic H. pylori infection appeared to be associated with short stature in children. H. pylori infection did not influence blood pressure, body weight and body mass index either in adults or children and adolescents. 展开更多
关键词 EPIDEMIOLOGY Helicobacter pylori Czech Republic 13C-urea breath test Blood pressure Heart rate Weight stature Body mass index
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Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature 被引量:4
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作者 Xin Fan Sen Zhao +27 位作者 Chenxi Yu Di Wu Zihui Yan Lijun Fan Yanning Song Yi Wang Chuan Li Yue Ming Baoheng Gui Yuchen Niu Xiaoxin Li Xinzhuang Yang Shiyu Luo Qiang Zhang Xiuli Zhao Hui Pan Mei Li Weibo Xia Guixing Qiu Pengfei Liu Shuyang Zhang Jianguo Zhang Zhihong Wu James R.Lupski Jennifer E.Posey Shaoke Chen Chunxiu Gong Nan Wu 《Journal of Genetics and Genomics》 SCIE CAS CSCD 2021年第5期396-402,共7页
Short stature is among the most common endocrinological disease phenotypes of childhood and may occur as an isolated finding or in conjunction with other clinical manifestations.Although the diagnostic utility of clin... Short stature is among the most common endocrinological disease phenotypes of childhood and may occur as an isolated finding or in conjunction with other clinical manifestations.Although the diagnostic utility of clinical genetic testing in short stature has been implicated,the genetic architecture and the utility of genomic studies such as exome sequencing(ES)in a sizable cohort of patients with short stature have not been investigated systematically.In this study,we recruited 561 individuals with short stature from two centers in China during a 4-year period.We performed ES for all patients and available parents.All patients were retrospectively divided into two groups:an isolated short stature group(group I,n=257)and an apparently syndromic short stature group(group II,n=304).Causal variants were identified in 135 of 561(24.1%)patients.In group I,29 of 257(11.3%)of the patients were solved by variants in 24 genes.In group II,106 of 304(34.9%)patients were solved by variants in 57 genes.Genes involved in fundamental cellularprocess played an important role in the genetic architecture of syndromic short stature.Distinct genetic architectures and pathophysiological processes underlie isolated and syndromic short stature. 展开更多
关键词 Short stature Exome sequencing Molecular diagnosis VARIANTS Genes and growth
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Short stature associated with a novel mutation in the aggrecan gene:A case report and literature review 被引量:2
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作者 Li-Ping Yin Hong-Xue Zheng Hong Zhu 《World Journal of Clinical Cases》 SCIE 2022年第9期2811-2817,共7页
BACKGROUND Mutations in the aggrecan(ACAN)gene are identified in patients with:spondyloepiphyseal dysplasia,Kimberley type;short stature with advanced bone age(BA);in the presence or absence of heterozygous ACAN mutat... BACKGROUND Mutations in the aggrecan(ACAN)gene are identified in patients with:spondyloepiphyseal dysplasia,Kimberley type;short stature with advanced bone age(BA);in the presence or absence of heterozygous ACAN mutation-induced early-onset osteoarthritis and/or osteochondritis dissecans;and spondyloepimetaphyseal dysplasia,ACAN type.Heterozygous mutations contribute to spondyloepiphyseal dysplasia,Kimberley type(MIM#608361),which is a milder skeletal dysplasia.In contrast,homozygous mutations cause a critical skeletal dysplasia,which is called spondyloepimetaphyseal dysplasia,ACAN type(MIM#612813).Lately,investigations on exome and genome sequencing have shown that ACAN mutations can also lead to idiopathic short stature with or without an advanced BA,in the presence or absence of early-onset osteoarthritis and/or osteochondritis dissecans(MIM#165800).We herein reported a heterozygous defect of ACAN in a family with autosomal dominant short stature,BA acceleration,and premature growth cessation.CASE SUMMARY A 2-year-old male patient visited us due to growth retardation.The patient presented symmetrical short stature(height 79 cm,<-2 SD)without facial features and other congenital abnormalities.Whole-exome sequencing revealed a heterozygous pathogenic variant c.871C>T(p.Gln291*)of ACAN,which was not yet reported in cases of short stature.This mutation was also detected in his father and paternal grandmother.According to the Human Gene Mutation Database,67 ACAN mutations are registered.Most of these mutations are genetically inheritable,and very few children with short stature are associated with ACAN mutations.To date,heterozygous ACAN mutations have been reported in approximately 40 families worldwide,including a few individuals with a decelerated BA.CONCLUSION Heterozygous c.871C>T(p.Gln291*)variation of the ACAN gene was the disease-causing variant in this family.Collectively,our newly discovered mutation expanded the spectrum of ACAN gene mutations. 展开更多
关键词 Short stature Aggrecan gene MUTATION Bone age Case report
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The Wingate anaerobic test cannot be used for the evaluation of growth hormone secretion in children with short stature 被引量:1
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作者 Nitzan Dror Liat Oren +2 位作者 Michal Pantanowitz Alon Eliakim Dan Nemet 《Journal of Sport and Health Science》 SCIE 2017年第4期443-446,共4页
Purpose: To assess the growth hormone(GH) response to the Wingate anaerobic test(WAn T) among children with short stature and suspected GH deficiency. We hypothesized that the GH response to the WAn T would be similar... Purpose: To assess the growth hormone(GH) response to the Wingate anaerobic test(WAn T) among children with short stature and suspected GH deficiency. We hypothesized that the GH response to the WAn T would be similar to the GH response to a commonly used pharmacologic provocation test.Methods: Ten children(6 males and 4 females, age range 9.0–14.9 years) participated in the study. Each participant performed 2 tests: a standard all-out WAn T, cycling for 30 s against constant resistance, and a standardized pharmacologic test(clonidine or glucagon). Blood samples for GH were collected before and 10, 30, 45, and 60 min after the beginning of exercise. In addition, we collected pre-and post-exercise blood lactate levels.Results: There was a significant increase in GH levels after the WAn T, yet in 9 of 10 participants, this increase was below the threshold for GH sufficiency. Peak GH after the WAn T was significantly lower compared to the pharmacologic GH provocation tests(with 9 of 10 demonstrating GH-sufficient response).Conclusion: The traditional WAn T cannot be used as a GH provocation test. Further research is needed to develop anaerobic exercise protocols sufficient to promote GH secretion. 展开更多
关键词 ANAEROBIC EXERCISE Growth hormone LACTATE Provocation test Short stature
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Detection of short stature homeobox 2 and RAS-associated domain family 1 subtype A DNA methylation in interventional pulmonology 被引量:1
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作者 Jian Wu Peng Li 《World Journal of Clinical Cases》 SCIE 2021年第20期5391-5397,共7页
One of the most important aspects of interventional pulmonology is to obtain tissue or liquid samples of the chest to diagnose a respiratory disease;however,it is still possible to obtain insufficient tissue or cytolo... One of the most important aspects of interventional pulmonology is to obtain tissue or liquid samples of the chest to diagnose a respiratory disease;however,it is still possible to obtain insufficient tissue or cytologic specimens.Indeed,methylation detection is an effective method by which to establish a diagnosis.This review focuses on the clinical application of short stature homeobox 2 and RAS-associated domain family 1 subtype A DNA methylation detection in interventional pulmonology,including bronchoscopic fluid biopsy,transbronchial needle aspiration,and pleural effusion. 展开更多
关键词 DNA methylation Interventional pulmonology Short stature homeobox 2 RAS-associated domain family 1 subtype A Fluid biopsy Transbronchial needle aspiration
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Understanding Growth Hormone Secretion and Short Stature 被引量:1
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作者 Milton Rodrigo Lafuente Covarrubias Luis Fernando de Azevedo Piovezani +4 位作者 Frederico Martins Cordeiro William Cabrera Viana Mirella Hansen de Almeida Denise Rosso Tenório Wanderley Rocha Alberto Krayyem Arbex 《Open Journal of Endocrine and Metabolic Diseases》 2016年第1期78-86,共9页
Short stature is a clinical challenge in the daily practice of pediatric endocrinology, regarding the several technical, cultural and economic factors associated with its approach. This article intends to review the p... Short stature is a clinical challenge in the daily practice of pediatric endocrinology, regarding the several technical, cultural and economic factors associated with its approach. This article intends to review the physiology of growth hormone secretion, the endocrine regulation of human growth and the clinical aspects of the diagnosis and treatment of short stature. It specifically analyses the treatment of short stature with growth hormone, along with its side effects, cost/benefit analysis and possible risks. A clinical case from a medical school is also described, intending a better understanding of this frequent ambulatory situation in endocrinology and pediatrics. 展开更多
关键词 Growth Hormone GH Treatment Short stature Abnormal Growth CHILDREN
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ASSOCIATION ANALYSIS OF POLYMORPHISMS IN SIX GENES WITHIN THE GH/IGF-1 AXIS IN PATIENTS WITH IDIOPATHIC SHORT STATURE IN THE CHINESE HAN POPULATION 被引量:1
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作者 滕月春 王伟 +6 位作者 黄薇 王莹 杨玉 卫海燕 陈少科 陈临琪 王德芬 《Medical Bulletin of Shanghai Jiaotong University》 CAS 2012年第1期1-9,共9页
Objective To investigate relationships of polymorphisms in six genes ( GHR, IGF-1, IGF-1R, IGFBP-3, JAK2, and STAT5b) in the growth hormone (GH)/insulin-like growth factor-1 (IGF-1) axis with idiopathic short st... Objective To investigate relationships of polymorphisms in six genes ( GHR, IGF-1, IGF-1R, IGFBP-3, JAK2, and STAT5b) in the growth hormone (GH)/insulin-like growth factor-1 (IGF-1) axis with idiopathic short stature (ISS) in the Chinese Han population. Methods A case- control study was carried out on a cohort of 198 ISS patients and 306 healthy controls. A total of 106 tagging single nucleotide polymorphisms (tagSNPs) from the six genes were selected from the HapMap (haplotype map of the human genome ) Han Chinese in the Beijing subset. Results of genotyping conducted by high- throughput lllumina GoldenGateTM Assay were analyzed by statistical software. Results Both individual tagSNPs and haplotypes showed an association with 1SS in the Han Chinese population ( P 〈 O. 05 ). For each single test, both allele and genotype were tested. By allele frequency analysis, six positive SNP sites ( rsNo. 1, rsNo. 2, rsNo. 3, rsNo. 4, rsNo. 5, and rsNo. 6) of 3 genes ( JAK2, 1GF-1R, and GHR) were found having associations with ISS. By genotype frequency analysis, there were significant differences between the patient and control groups in the following SNP sites: 4 sites in JAK2 gene ( rsNo. 1, rsNo. 2, rsNo. 3, and rsNo. 4) and 1 site in GHR gene ( rsNo. 6). The risk which affected ISS was found related to the JAK2 gene in 4 sites ( increase in rsNo. 1 and decrease in rsNo. 2, rsNo. 3, and rsNo. 4 ) and to the GHR gene in 1 site (decrease in rsNo. 6). They were four haplotypes in gene of IGF-1R as "TGC", "CGCT", "TA", and " CA", one haplotype in IGFBP-3 as "TA", and one haplotype in JAK2 as "CTG", which revealed high significance for risks of affecting ISS. At last, multivariate logistic regression analysis of specific site rsNo. 6 of the GHR gene revealed that the serum IGF-1 was related to genotypes AA and AC, with genotype CC as the reference ( P =0. 015). Conclusion Genetic variances in six genes within the GH/IGF-1 axis may be important etiological factors for ISS in the Chinese Han population. 展开更多
关键词 association analysis growth hormone (GH)/insulin-like growth factor-1 1GF1 axis idiopathic short stature polymorphism
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Change in stature by walking and running at a preferred transition speed
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作者 Shinichi Demura Takayoshi Yamada +1 位作者 Tamotsu Kitabayashi Masanobu Uchiyama 《Health》 2010年第12期1377-1381,共5页
This study aimed to measure stature changes during and after walking and running at a preferred transition speed (PTS) and the recovery period, and to examine differences caused by loads imposed on the spinal column. ... This study aimed to measure stature changes during and after walking and running at a preferred transition speed (PTS) and the recovery period, and to examine differences caused by loads imposed on the spinal column. Seven males and three females aged 22-41 years took part in this study. Subjects The subjects underwent 15 minutes of walking or running on a treadmill in a random order. Stature changes were measured during each exercise at intervals of 5 minutes and after a 20 minute standing recovery period within units of 0.01 mm. Two- way ANOVA revealed that both main factors, gait (F = 5.250, P < 0.05) and elapsed time (F = 14.409, P < 0.05), had a significant effect on stature. In the post hoc test, stature shrank with time and its loss was found to be greater in running than in walking, but recovered after both exercises. In conclusion, the spinal load increases with time during both walking and running at PTS, but is greater in running than in walking. After both exercises, spinal shrinkage shows a similar recovery process and recovers faster in walking to its pre-exercise level. 展开更多
关键词 Preferred TRANSITION SPEED WALKING Running CHANGE in stature SPINAL Shrinkage
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Short Stature due to Ectopic Neurohypophysis: Case Report
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作者 Mussa H. Almalki Badurudeen Mahmood Buhary +2 位作者 Imad Brema Abdulrahman Almaghamsi Saad Al Zahrani 《Open Journal of Endocrine and Metabolic Diseases》 2017年第2期89-95,共7页
Ectopic posterior pituitary is a disruption in the normal embryogenesis and is one of the rare but common causes of pituitary dwarfism. We report the MRI and clinical findings of a 13.5-year-old Saudi boy who was refe... Ectopic posterior pituitary is a disruption in the normal embryogenesis and is one of the rare but common causes of pituitary dwarfism. We report the MRI and clinical findings of a 13.5-year-old Saudi boy who was referred to the endocrine outpatient clinic with no significant complaints except for fatigue, exercise intolerance and short stature. Physical examination revealed short stature (below 2nd centile) with normal body proportion without any dysmorphic features and prepubertal secondary sexual characteristics and genitalia. Hormonal profile revealed: low thyroxine level, low gonadotrophins, low testosterone, low cortisol and blunted growth hormone (GH) response to insulin induced hypoglycaemia. Bone age was of 5 years old. The MRI result concluded with a diagnosis of ectopic posterior pituitary. A diagnosis of posterior pituitary ectopia (PPE) with panhypopituitarism was made. 展开更多
关键词 PANHYPOPITUITARISM Posterior PITUITARY ECTOPIA Growth Hormone Deficiency Short stature
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Lean Healthy Children with Short Stature Have Distinct Eating Patterns
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作者 Shir Hadani Yael Lebenthal +3 位作者 Liora Lazar Raanan Shamir Moshe Phillip Michal Yackobovitch-Gavan 《Journal of Food Science and Engineering》 2016年第6期299-307,共9页
Nutrition plays an essential role in normal linear growth in children. Knowledge of the eating styles and dietary consumption of healthy short children from developed countries is scarce. The aim of this study was to ... Nutrition plays an essential role in normal linear growth in children. Knowledge of the eating styles and dietary consumption of healthy short children from developed countries is scarce. The aim of this study was to investigate the dietary patterns in idiopathic short stature (ISS) and relatively low weight children compared to children with normal stature and weight. This research is a case-control study of 86 pre-pubertal healthy children, mean age 5.9 ± 1.5 years. The study group comprised 43 ISS children; 43 age-matched children with normal stature and weight served as controls. Outcome measures included: dietary patterns and physical activity. The absolute daily average energy, protein and carbohydrate intake was significantly lower in the ISS children (P 〈 0.05); after correcting for body surface area, no significant differences were found between groups. Intake of micronutrients calcium, iron, zinc, vitamin A and vitamin C, expressed as percentage from Recommended Dietary Allowance, was significantly lower in the ISS children (P 〈 0.05), who had lower food responsiveness, higher satiety responsiveness, lesser enjoyment of food and were slower eaters (P 〈 0.001). Physical activity was sedentary in both the ISS cases and controls. Our findings in healthy, pre-pubertal, relatively lean ISS children point to a distinct eating pattern with no alteration in physical activity. Understanding the differences in dietary intake and eating behaviors may be beneficial in the development of targeted nutritional intervention for lean ISS children. 展开更多
关键词 Dietary patterns eating behaviors lean children short stature.
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Talking about Height and Quality of Life: A Content-Analysis of Focus Group Discussions with Short-Statured Children and Their Parents in the US
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作者 Rachel Sommer Monika Bullinger +5 位作者 Andreas Pleil Nelly Mauras Judith Ross Ron Newfield Janet Fox Julia Quitmann 《Open Journal of Endocrine and Metabolic Diseases》 2016年第11期229-241,共13页
Background: To understand what life is like for US children with a diagnosis of Growth Hormone Deficiency or Idiopathic Short Stature, the impact of short stature on Health related Quality of Life (HrQoL) was qualitat... Background: To understand what life is like for US children with a diagnosis of Growth Hormone Deficiency or Idiopathic Short Stature, the impact of short stature on Health related Quality of Life (HrQoL) was qualitatively examined and needs for care from the young patients and their parents perspective were identified. Methods: Focus group discussions with 26 American-English speaking and nine American-Spanish speaking children and their parents were conducted, transcribed verbatim and subsequently qualitatively analyzed by two independent raters, using an existing coding guideline, based on the multidimensional HrQoL concept and a special software (VERBI-Software MAXQDA 10). Results: A total of 1313 statements for the English-speaking and 447 statements for the Spanish-speaking families were categorized. In the US, the strongest frequency of mention was found for the HrQoL dimension “Social” across respondents, followed by “Treatment” and “Emotion”. Conclusion: Conducting and analyzing data generated from focus groups ensure that young patients’ experiences of disease are represented in the measure of outcomes for use in clinical trials and patient care. 展开更多
关键词 Short stature Quality of Life CHILDREN Focus Groups
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The MTMR11 variants identified in a short stature cohort compromise the dephosphorylation ability of MTM1 on SMAD5 to up-regulate BMP signaling
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作者 Kai Yang Hongdou Li +6 位作者 Rui Peng Bo Wu Yiping Shen Tongjin Zhao Chentao Li Weimin Wang Hongyan Wang 《Genes & Diseases》 2025年第4期23-25,共3页
Short stature is clinically defined as a standing height less than two standard deviations below the mean height at the same age,ethnicity,and sex.As a typical complex symp-tom,height has a high heritability of 80%,wh... Short stature is clinically defined as a standing height less than two standard deviations below the mean height at the same age,ethnicity,and sex.As a typical complex symp-tom,height has a high heritability of 80%,which is affected by multiple genes and geneegene interactions.A genome-wide association study(GWAS)revealed that 23.3%of the heritability of short stature could be explained by 697 in-dependent variants.1 Whole exome sequencing of a large sample size demonstrated that 83 rare and low-frequency variants could explain 1.7%heritability of height. 展开更多
关键词 bmp signaling short stature mtmr SMAD genome wide association study MTM whole exome sequencing
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Clinical manifestations and pathogenesis of mitochondrial dysfunction in short stature
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作者 Yue Jiang Zhi-Qiang Wan +4 位作者 Xin-Yue Zhang Han-Ze Du Yun-Meng Yang Hui Pan Yi Hu 《World Journal of Pediatrics》 2025年第3期223-251,共29页
Background Mitochondria plays a pivotal role in cellular energy production,and their dysfunction can lead to a spectrum of mitochondrial diseases,affecting various organs with a wide range of clinical symptoms.Among t... Background Mitochondria plays a pivotal role in cellular energy production,and their dysfunction can lead to a spectrum of mitochondrial diseases,affecting various organs with a wide range of clinical symptoms.Among these,short stature is a notable manifestation,yet its pathogenesis related to mitochondrial dysfunction remains underexplored.Data sources A comprehensive literature search was conducted in the PubMed,Medline,and EMBASE databases from inception to November 2024.Patient demographics,genetic confirmation type,clinical features associated with short stature or growth abnormalities,and any interventions or treatments alongside treatment outcomes were extracted.Results Our article provides a comprehensive review of the clinical manifestations and delves into the molecular mechanisms of mitochondrial dysfunction that are associated with short stature.A total of 134 genetically confirmed cases with primary mitochondrial disease(PMD)associated with short stature with mtDNA(e.g.,m.3243A>G,large-scale deletions)and nDNA mutations(e.g.,NDUFB3,SURF1).Median age at short stature detection was 8 years,with 40%presenting earlier.Growth hormone deficiency(GHD)occurred in 15%of cases,showing variable responses to therapy.Pathogenesis involves mitochondrial dysfunction,growth plate impairment,and endocrine disorders.Early diagnosis relies on timely genetic testing.Management of PMD includes tailored dietary strategies,supplementation,and cautious GH therapy due to potential risks.Emerging gene therapy and multidisciplinary care are emphasized to address disease complexity and optimize outcomes.Conclusions Previous reviews have described the endocrine aspects of mitochondrial diseases.Although the list of endocrine diseases is comprehensive,it is not specific for short stature.This review focuses on short stature,and it is more specific than previous reviews in terms of etiology,pathogenesis,diagnosis,treatment,and prospects. 展开更多
关键词 MITOCHONDRIA Mitochondrial diseases MTDNA Short stature
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Magnetic resonance imaging of knees:a novel approach to predict recombinant human growth hormone therapy response in short-stature children in late puberty 被引量:2
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作者 Xi Bai Zhi‑Bo Zhou +9 位作者 Xiao‑Yuan Guo Yi‑Ling He Yue‑Lun Zhang Feng‑Dan Wang Feng Feng Hong‑Bo Yang Shi Chen Feng‑Ying Gong Hui‑Juan Zhu Hui Pan 《World Journal of Pediatrics》 SCIE CSCD 2024年第7期723-734,共12页
Background There is no appropriate tool to predict recombinant human growth hormone(rhGH)response before therapy initiation in short-stature children in late puberty.The current study aimed to explore the associations... Background There is no appropriate tool to predict recombinant human growth hormone(rhGH)response before therapy initiation in short-stature children in late puberty.The current study aimed to explore the associations between magnetic resonance imaging(MRI)stages of the knee growth plates and rhGH response in short-stature children in late puberty.Methods In this prospective cohort study,short-stature children in late puberty were treated with rhGH and followed up for 6 months.We proposed a novel knee MRI staging system according to the growth plate states of distal femurs or proximal tibias and divided the participants into three groups:unclosed growth plate group,marginally closed growth plate group,and nearly closed growth plate group.The primary outcomes were height gain and growth velocity(GV),which were assessed three months later.Results Fifty participants were enrolled,including 23 boys and 27 girls.GV and height gain after 6 months of rhGH therapy decreased successively in the three groups with an increased degree of growth plate fusion,especially when grouped by proximal tibias(GV_(1-3 mon)from 9.38 to 6.08 to 4.56 cm/year,GV_(4-6 mon)from 6.75 to 4.92 to 3.25 cm/year,and height gain from 4.03 to 2.75 to 1.95 cm,all P<0.001).Moreover,the MRI stages of growth plates independently served as a significant variable for GV and height gain after therapy,especially when grouped by proximal tibias(all P<0.01).Conclusion The MRI staging method is expected to be an effective tool for predicting rhGH response before therapy initiation in short-stature children in late puberty. 展开更多
关键词 Growth hormone Growth velocity Late puberty Magnetic resonance imaging Short stature
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Lifelong dedication and ever-admirable stature-in commemoration of the first anniversary of Mr.Mao Shisong’s passing
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作者 Jinglong Wang Jixiang Zhou +2 位作者 Xiaolong Pu Yincai Tang Yan Li 《Statistical Theory and Related Fields》 CSCD 2024年第3期243-250,共8页
On January 16,2023,at 14:01,our beloved and esteemed Mr.Mao Shisong passed away at the age of 87,leaving us with great sorrow.In the days following Mr.Mao’s departure,our sorrow for his absence has become increasingl... On January 16,2023,at 14:01,our beloved and esteemed Mr.Mao Shisong passed away at the age of 87,leaving us with great sorrow.In the days following Mr.Mao’s departure,our sorrow for his absence has become increasingly profound,and our remembrance of him is ever more vivid.As we publish this special commemorative issue in Chinese Journal of Applied Probability and Statistics for the first anniversary of Mr.Mao’s death,we honor his life of ceaseless endeavor,his dedication to fairness and capability,and his pioneering spirit of innovation. 展开更多
关键词 ever admirable stature PASSING sorrow anniversary COMMEMORATION remembrance applied probability statistics lifelong dedication
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Stature Estimation Using Hand and Foot Metrics among the Meena Tribal Population of the North-western Indian Region
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作者 Suraj Kataria Shivani Dechalwal +3 位作者 Rutwik Shedge Naorem Kiranmala Devi Mohinder P.Sachdeva Sonal Jain 《Journal of Forensic Science and Medicine》 2024年第2期111-119,共9页
Background:Studies on stature estimation models for North West Indian populations are limited.The present study attempts to develop stature estimation models for the Indian population using hand and foot dimensions.Ma... Background:Studies on stature estimation models for North West Indian populations are limited.The present study attempts to develop stature estimation models for the Indian population using hand and foot dimensions.Materials and Methods:Hand and foot measurements of 280 individuals(140 males and 140 females)were recorded for the estimation of stature in the present study.The stature and nine hand and foot anthropometric measurements were obtained using standard methods and relevant landmarks.For bilateral and sex differences,independent and paired t-tests were used to statistically analyze the data.Results:The findings showed statistically significant sex differences(P<0.05)in stature,foot,and hand measurements.However,there were no significant bilateral differences.The Pearson correlation coefficient assessed the association between stature and hand/foot measurements.All the studied parameters in both sexes demonstrated a statistically significant(P<0.001)and strong positive correlation with stature.Males and females had the strongest correlation coefficients for right-foot length(r=0.70)and right-hand length(r=0.64),respectively.Each sex’s regression equations were calculated separately.Stature predictions were accurate to within 4.02-6.64 cm.Conclusion:Stature estimated from hand and foot measurements can help in personal identification by creating an individual’s biological profile.Morphological differences in feet and hands demonstrate the significance of developing ethnic group-specific models to determine stature.According to the study’s findings,the stature of a person belonging to the Indian subcontinent can be estimated using hands and feet for anthropological and forensic purposes. 展开更多
关键词 Forensic anthropology forensic anthropometry human identification osteobiography stature estimation
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Diagnosis of type 1 diabetes mellitus triples the odds of screening positive for eating disorders:A case-control study
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作者 Ilektra Toulia Maria G Grammatikopoulou +7 位作者 Alexandra Foscolou Aristea Gioxari Eleni G Paschalidou Eirini Karagiannopoulou Efstratia Daskalou Odysseas Androutsos Dimitrios G Goulis Kyriaki Tsiroukidou 《World Journal of Clinical Pediatrics》 2025年第4期243-252,共10页
BACKGROUND A diagnosis of a chronic disease has been shown to predispose patients to the development of feeding and eating disorders(FEDs).AIM To screen children and adolescents with type 1 diabetes mellitus(T1DM)for ... BACKGROUND A diagnosis of a chronic disease has been shown to predispose patients to the development of feeding and eating disorders(FEDs).AIM To screen children and adolescents with type 1 diabetes mellitus(T1DM)for FEDs and compare them to their counterparts with short stature.METHODS A total of 110 children and adolescents(55 with T1DM and 55 with short stature)were enrolled in the study.The SCOFF questionnaire was used to screen for possible FEDs,while anthropometric and dietary data were also collected.RESULTS Approximately 60%of the children with T1DM screened positive for FEDs compared to 30.9%of the children with short stature.Having a T1DM tripled the chances of screening positive for FEDs and halved the annual growth rate of children with T1DM.No differences were noted in the dietary intake between groups.CONCLUSION The results necessitate the education of pediatric endocrinologists and diabetologists on proper screening and identification of children at risk for developing FEDs.A prompt diagnosis might help children catch up growth and attain their genetically predisposed height. 展开更多
关键词 Disordered eating Eating disorders Growth hormone deficiency Short stature Growth INSULIN
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