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 (≥ 18 year-old) and 5.2% (26/497) in children and adolescents (≤ 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
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
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
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
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
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
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
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
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
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
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
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
Estimation of stature and sex is very important to identify the unidentified human remains to solve the crime or in the case of mass destruction.The stature can be estimated using various regression formulas and it di...Estimation of stature and sex is very important to identify the unidentified human remains to solve the crime or in the case of mass destruction.The stature can be estimated using various regression formulas and it differs depending on the population and the regions.To predict stature and sex from various anthropometric parameters in south Indian population.One hundred adults(living individuals)belonging to the age group of 20-80 years were included in the study.A total of 22 anthropometric parameters were measured for the study.Using the regression formula,the stature is been estimated.Statistical analysis of all the parameters was done.Correlation coefficient test was done to correlate all the parameters with stature and sex.Based on the coefficient correlation result,it was found that for stature estimation leg length followed by thigh length is the best and ear length(EL)is the worst in females.In males for stature estimation,forearm length(FL)is the best and nose width(NW)is the worst.In estimating sex height,weight,foot length and width,hand length and width,arm and FL,inter-acromial distance,cranial height and width,face length and width,NW and nasal height and EL were found to be significant.Results of this study will be useful for forensic anthropologist for estimating stature and sex.The regression equations obtained in this study are population specific and they can be used for estimating stature in the south Indian population.展开更多
Background:Footprints recovered from crime scenes can assist in establishing the identity(stature,body weight,and sex)of a person.Due to variations(genetic and environmental factors)in the morphology of the foot,sever...Background:Footprints recovered from crime scenes can assist in establishing the identity(stature,body weight,and sex)of a person.Due to variations(genetic and environmental factors)in the morphology of the foot,several authors have derived populationspecific regression equations for stature and weight estimations.Aims and Objectives:Tribal differences in the footprint dimensions of Ghanaians have not been established.Hence,this study was done to determine if they were tribal differences in footprint dimensions.Materials and Methods:The footprints of Ghanaian females,aged 19-35 years,and belonging to two tribal groups(72 Asante and 73 Fante)were recovered using an ink pad method.Height,body weight,and footprint measurements were obtained following standard procedures.Results:Although Fante females had longer foot lengths and shorter foot breadths than Asante females,the difference was significant(P<0.001)only in the left big toe-pad length(eta squared=0.496).Height correlated better with footprint dimensions of Fante(r=0.246-0.809)than Asante(r=0.214-0.660)females.Body weight correlated weakly with footprint dimensions.Unlike in Asante females,foot length measurements did not correlate significantly with body weight among Fante females.Conclusion:The use of mixed population in deriving stature,weight and sex equations is cautioned especially when there is increased genetic diversity.The findings of this study have important applications in forensic anthropometric investigations.展开更多
The Han Chinese people are the main ethnic group in China and the largest ethnic group in the world.The dimensions of the hands and feet have been successfully used for the estimation of stature.A total of 26,927 heal...The Han Chinese people are the main ethnic group in China and the largest ethnic group in the world.The dimensions of the hands and feet have been successfully used for the estimation of stature.A total of 26,927 healthy adult subjects,comprising 13,221 men and 13,706 women,were recruited.The survey samples were chosen through random cluster sampling.The mean values were significantly higher in men than those in women for all measurements(P<0.001).All the measurements showed a statistically significant correlation with stature(P<0.01).The combination of the right hand length and the right foot length was the best predictor of stature because it had the lowest standard error of estimate.The use of multiple regression equations yielded better results than did the use of linear regression equations.The accuracy of stature prediction ranged from ±4.81 to ±6.39 cm.The present study was of great importance with regards to improving the physical anthropology database of ethnic groups in China.展开更多
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
Celiac disease(CeD)is an autoimmune enteropathy triggered by gluten in genetically susceptible individuals.[1] CeD may present with typical gastrointestinal symptoms,such as chronic diarrhea,abdominal distention,and p...Celiac disease(CeD)is an autoimmune enteropathy triggered by gluten in genetically susceptible individuals.[1] CeD may present with typical gastrointestinal symptoms,such as chronic diarrhea,abdominal distention,and poor weight gain triggered by gluten in the diet.Some children may have short stature(SS)as the sole manifestation of CeD.[2]Transient dysfunction of the endocrine growth axis has been reported in CeD.[3] This apparent growth hormone deficiency(GHD)is generally normalized with the introduction of a gluten-free diet(GFD).展开更多
Importance The prevalence and characteristics of short stature(SS)among children in China should be assessed to provide guidance for planning and implementation of nationwide public health policies.Thus far,there have...Importance The prevalence and characteristics of short stature(SS)among children in China should be assessed to provide guidance for planning and implementation of nationwide public health policies.Thus far,there have been no accurate estimates of the prevalence of SS in China.Objective To analyze the prevalence of SS among children in China and to explore the influences of sex,area,age,study year,and study site on prevalence rates.Methods Relevant literature was identified by searching the following databases:PubMed,Embase,The Cochrane Library,Chinese Biomedical Literature,China Knowledge Resource Integrated,WeiPu,and WanFang databases.Meta-analysis was carried out using STATA 11.2.Results This meta-analysis included 39 studies with 348326 Chinese participants;the studies covered 20 provinces,municipalities,and autonomous regions.The pooled prevalence of SS was 3.2%(95%confidence interval[CI],2.6%–3.7%;I2=99.8%).The prevalence of SS in boys and girls were 3.1%(95%CI,2.5%–3.7%)and 3.2%(95%CI,2.6%–3.9%),respectively.The sex difference was not statistically significant(P>0.05).The prevalence of SS was higher in rural areas than in urban areas(4.7%[95%CI,3.6%–5.8%]vs.2.8%[95%CI,2.2%–3.4%];P<0.001).The prevalence of SS was higher in West China(5.2%;95%CI,4.4%–6.0%)than in Northeast China(0.6%;95%CI,0.3%–0.8%),East China(2.3%;95%CI,1.9%–2.8%),or Central China(2.9%;95%CI,1.9%–3.9%).Interpretation The prevalence of SS among children was higher in western and rural areas of China.Close attention to children’s growth and development is needed to prevent the occurrence of SS.展开更多
The height of 26,940 Chinese Han adults (16,503 rural and 10,437 urban adults) from 11 Han ethnic groups was measured and analyzed in the current survey. The top three highest dialect groups in rural Han populations...The height of 26,940 Chinese Han adults (16,503 rural and 10,437 urban adults) from 11 Han ethnic groups was measured and analyzed in the current survey. The top three highest dialect groups in rural Han populations are Jianghuai (male 167.3± 6.4 cm, female 156.5 ±5.6 cm), North China (male 167.3 ± 6.4 cm, female 155.7± 5.7 cm), and Wu (male 166.7 ± 6.9 cm, female 155.6 ± 5.9 cm) groups. In urban Han populations, the top three groups are as follows: the Northeast China (male 169.5 ±6.7 cm, female 158.0 ±6.1 cm), North China (male 168.5 ± 6.2 cm, female 157.3±5.8 cm), and Jianghuai (male 169.2 ± 6.2cm, female 157.1 ± 5.6 cm) dialect groups. The Gan dialect group (male 164.0 ± 6.3 cm, female 153.9±5.0 cm) was the shortest in both rural and urban groups. The different stature of Han dialect groups may be a result of interaction between genetic background and different environmental factors, labor intensity, diet composition and nutrition intake in different areas in China.展开更多
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
基金Supported by Research project PRVOUK P37-08(from Charles University in Praha,Faculty of Medicine at Hradec Kralove,Czech Republic)
文摘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 (≥ 18 year-old) and 5.2% (26/497) in children and adolescents (≤ 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.
基金supported by the National Natural Science Foundation of China(30972495,81001249)
文摘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.
基金supported by the National Natural Science Foundation of China(81001249,30972495)
文摘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.
文摘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.
基金supported in part by grants from The Meir Medical Center Research Authority and Ferring Israel
文摘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.
文摘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.
文摘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.
文摘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.
文摘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.
文摘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.
文摘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.
基金supported by the CAMS Innovation Fund for Medical Science(CIFMS 2021-I2M-1-003)National High Level Hospital Clinical Research Funding(2022-PUMCH-B-016).
文摘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.
文摘Estimation of stature and sex is very important to identify the unidentified human remains to solve the crime or in the case of mass destruction.The stature can be estimated using various regression formulas and it differs depending on the population and the regions.To predict stature and sex from various anthropometric parameters in south Indian population.One hundred adults(living individuals)belonging to the age group of 20-80 years were included in the study.A total of 22 anthropometric parameters were measured for the study.Using the regression formula,the stature is been estimated.Statistical analysis of all the parameters was done.Correlation coefficient test was done to correlate all the parameters with stature and sex.Based on the coefficient correlation result,it was found that for stature estimation leg length followed by thigh length is the best and ear length(EL)is the worst in females.In males for stature estimation,forearm length(FL)is the best and nose width(NW)is the worst.In estimating sex height,weight,foot length and width,hand length and width,arm and FL,inter-acromial distance,cranial height and width,face length and width,NW and nasal height and EL were found to be significant.Results of this study will be useful for forensic anthropologist for estimating stature and sex.The regression equations obtained in this study are population specific and they can be used for estimating stature in the south Indian population.
文摘Background:Footprints recovered from crime scenes can assist in establishing the identity(stature,body weight,and sex)of a person.Due to variations(genetic and environmental factors)in the morphology of the foot,several authors have derived populationspecific regression equations for stature and weight estimations.Aims and Objectives:Tribal differences in the footprint dimensions of Ghanaians have not been established.Hence,this study was done to determine if they were tribal differences in footprint dimensions.Materials and Methods:The footprints of Ghanaian females,aged 19-35 years,and belonging to two tribal groups(72 Asante and 73 Fante)were recovered using an ink pad method.Height,body weight,and footprint measurements were obtained following standard procedures.Results:Although Fante females had longer foot lengths and shorter foot breadths than Asante females,the difference was significant(P<0.001)only in the left big toe-pad length(eta squared=0.496).Height correlated better with footprint dimensions of Fante(r=0.246-0.809)than Asante(r=0.214-0.660)females.Body weight correlated weakly with footprint dimensions.Unlike in Asante females,foot length measurements did not correlate significantly with body weight among Fante females.Conclusion:The use of mixed population in deriving stature,weight and sex equations is cautioned especially when there is increased genetic diversity.The findings of this study have important applications in forensic anthropometric investigations.
基金supported by the National Natural Science Foundation of China(30830062,31401022)
文摘The Han Chinese people are the main ethnic group in China and the largest ethnic group in the world.The dimensions of the hands and feet have been successfully used for the estimation of stature.A total of 26,927 healthy adult subjects,comprising 13,221 men and 13,706 women,were recruited.The survey samples were chosen through random cluster sampling.The mean values were significantly higher in men than those in women for all measurements(P<0.001).All the measurements showed a statistically significant correlation with stature(P<0.01).The combination of the right hand length and the right foot length was the best predictor of stature because it had the lowest standard error of estimate.The use of multiple regression equations yielded better results than did the use of linear regression equations.The accuracy of stature prediction ranged from ±4.81 to ±6.39 cm.The present study was of great importance with regards to improving the physical anthropology database of ethnic groups in China.
基金funded in part by the Beijing Natural Science Foundation(JQ20032 to N.W.and to 7191007 to Z.W.)National Natural Science Foundation of China(81822030 and 82072391 to N.W.,81772299and 81930068 to Z.W.,81772301 and 81972132 to G.Q.,81672123and 81972037 to J.Z.)+7 种基金Capital's Funds for Health Improvement and Research(2020-4-40114 to N.W.)Tsinghua University-Peking Union Medical College Hospital Initiative Scientific Research ProgramNational Key Research and Development Program of China(2018YFC0910500 to N.W.and Z.W.,2016YFC0901501 to S.Z.)the PUMC Youth Fund and the Fundamental Research Funds for the Central Universities(3332019052 to Y.M.)the CAMS Initiative Fund for Medical Sciences(2016-I2M-3-003 to G.Q.and N.W.,2016-I2M-2-006 and 2017-I2M-2-001 to Z.W.)the Non-profit Central Research Institute Fund of Chinese Academy of Medical Sciences(2019PT320025 to N.W.)sponsored by GeneScience Pharmaceuticals Co.,Ltd.(Changchun,China)funded by the United States National Institutes of Health(UM1HG006542 and K08 HG008986)。
文摘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.
文摘Celiac disease(CeD)is an autoimmune enteropathy triggered by gluten in genetically susceptible individuals.[1] CeD may present with typical gastrointestinal symptoms,such as chronic diarrhea,abdominal distention,and poor weight gain triggered by gluten in the diet.Some children may have short stature(SS)as the sole manifestation of CeD.[2]Transient dysfunction of the endocrine growth axis has been reported in CeD.[3] This apparent growth hormone deficiency(GHD)is generally normalized with the introduction of a gluten-free diet(GFD).
文摘Importance The prevalence and characteristics of short stature(SS)among children in China should be assessed to provide guidance for planning and implementation of nationwide public health policies.Thus far,there have been no accurate estimates of the prevalence of SS in China.Objective To analyze the prevalence of SS among children in China and to explore the influences of sex,area,age,study year,and study site on prevalence rates.Methods Relevant literature was identified by searching the following databases:PubMed,Embase,The Cochrane Library,Chinese Biomedical Literature,China Knowledge Resource Integrated,WeiPu,and WanFang databases.Meta-analysis was carried out using STATA 11.2.Results This meta-analysis included 39 studies with 348326 Chinese participants;the studies covered 20 provinces,municipalities,and autonomous regions.The pooled prevalence of SS was 3.2%(95%confidence interval[CI],2.6%–3.7%;I2=99.8%).The prevalence of SS in boys and girls were 3.1%(95%CI,2.5%–3.7%)and 3.2%(95%CI,2.6%–3.9%),respectively.The sex difference was not statistically significant(P>0.05).The prevalence of SS was higher in rural areas than in urban areas(4.7%[95%CI,3.6%–5.8%]vs.2.8%[95%CI,2.2%–3.4%];P<0.001).The prevalence of SS was higher in West China(5.2%;95%CI,4.4%–6.0%)than in Northeast China(0.6%;95%CI,0.3%–0.8%),East China(2.3%;95%CI,1.9%–2.8%),or Central China(2.9%;95%CI,1.9%–3.9%).Interpretation The prevalence of SS among children was higher in western and rural areas of China.Close attention to children’s growth and development is needed to prevent the occurrence of SS.
基金supported by the National Natural Science Foundation of China (30830062)
文摘The height of 26,940 Chinese Han adults (16,503 rural and 10,437 urban adults) from 11 Han ethnic groups was measured and analyzed in the current survey. The top three highest dialect groups in rural Han populations are Jianghuai (male 167.3± 6.4 cm, female 156.5 ±5.6 cm), North China (male 167.3 ± 6.4 cm, female 155.7± 5.7 cm), and Wu (male 166.7 ± 6.9 cm, female 155.6 ± 5.9 cm) groups. In urban Han populations, the top three groups are as follows: the Northeast China (male 169.5 ±6.7 cm, female 158.0 ±6.1 cm), North China (male 168.5 ± 6.2 cm, female 157.3±5.8 cm), and Jianghuai (male 169.2 ± 6.2cm, female 157.1 ± 5.6 cm) dialect groups. The Gan dialect group (male 164.0 ± 6.3 cm, female 153.9±5.0 cm) was the shortest in both rural and urban groups. The different stature of Han dialect groups may be a result of interaction between genetic background and different environmental factors, labor intensity, diet composition and nutrition intake in different areas in China.
基金Supported by National Natural Science Foundation of China(30771029)
文摘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.