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
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: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
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
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
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 estimation of stature is very important in forensic investigation,as it provides useful data that can narrow the pool of potentially matching identities.The purpose of this study was to develop formulae for the es...The estimation of stature is very important in forensic investigation,as it provides useful data that can narrow the pool of potentially matching identities.The purpose of this study was to develop formulae for the estimation of stature from footprint measurements in Bangladeshi adults.This study included 118 randomly selected men and 130 randomly selected women,all aged 18–50 years.From each participant,stature and six footprint measurements were taken by means of standard measurement techniques.Footprint measurements were found to be positively correlated with stature.Stature was estimated by using linear regression equations.The right T1 length in men(R:þ0.587,R^(2):0.345)and the right T2 length in women(R:þ0.506,R^(2):0.256)were the most reliable individual estimators of stature.However,when data were combined for both sexes,the right T2 length was identified as the most reliable estimator of stature,with higher values of R(þ0.792)and R^(2)(0.627).In conclusion,human stature can be successfully estimated by using footprint measurements;this finding can be applied in forensic research and investigation.展开更多
Stature estimation is widely used for individual identification in forensic field.Previous studies have proposed several regression equations derived from a single population for this purpose.However,this may not be s...Stature estimation is widely used for individual identification in forensic field.Previous studies have proposed several regression equations derived from a single population for this purpose.However,this may not be suitable for other populations because of different hereditary and environmental conditions.In this study,stature estimation equations for southern China Han population have been provided.The study was conducted on a sample population of 121 men and women aged 18–25 years.A total of 19 parameters,including stature,head,torso,and parts of upper limbs and lower limbs,were measured according to standard anthropometric procedures.Herein,the anterior superior spine–malleolus medialis line showed the highest correlation coefficient(r=0.817)and was the most reliable predictor(R^(2)=0.667)in men,while the best predictor for women was total leg length(R^(2)=0.746)with the highest correlation coefficient(r=0.863).The regression analysis results via multiple predictors showed a high accuracy in stature estimation.Moreover,the analysis of multiple regression predictors showed that the dimensions of lower limbs were more reliable for stature estimation compared to head,torso,and upper limb measurements.This study provided equations of stature estimation for southern China Han population which can be useful in cases of dismembered body.展开更多
Examination of footprints provides important evidence in crime scene investigations and helps in stature prediction of criminals.This study aimed to derive regression equations and multiplication factors for stature e...Examination of footprints provides important evidence in crime scene investigations and helps in stature prediction of criminals.This study aimed to derive regression equations and multiplication factors for stature estimation from footprint dimensions in adult Nigerian medical students of the University of Lagos.Using an ink pad and a stadiometer,bilateral footprints and stature,respectively,were obtained from 230 subjects(100 males and 130 females)of Nigerian ancestry,aged 18-36 years upon satisfaction of the inclusion criteria and full written consent.The data collected were analyzed using SPSS version 20.Sexual dimorphism in stature and footprint dimensions was found to be statistically significant(P<0.05)with males having greater values than the females.Analyses of bilateral asymmetry indicated significant left footprint preponderance(P<0.05).There exist positive significant correlations(P<0.05)between stature and footprint dimensions(T.1-T.5 lengths,breadth at ball[BAB],and breadth at heel[BAH])in the males,females,and the pooled sample,with the only exception being the right and left breadths at heel in the males(r=0.112 and 0.183,respectively).The right and left T.2 lengths exhibited the highest correlation with statxire in the males,females,and the pooled sample with values of 0.704 and 0.703,0.749 and 0.736,and 0.853 and 0.84&respectively.Footprint dimensions are significantly correlated with stature,with the footprint length(T.1-T.5)dimensions showing more reliability and accuracy in stature prediction than the footprint breadth(BAH and BAB)dimensions.展开更多
Estimating stature by developing linear regression equations which incorporate the features of fragmented body parts or human skeletal remains has been employed by many forensic anthropologists to establish the identi...Estimating stature by developing linear regression equations which incorporate the features of fragmented body parts or human skeletal remains has been employed by many forensic anthropologists to establish the identity of victims of mass disaster although all formulas are ethnic,age,and gender specific.The study is aimed at using the percutaneous tibia length(PCTL)to deriving a specific regression equation formula which could be used to estimate the stature of adult indigenes of Bekwara ethnic group in Cross River State.A total number of 600 subjects within the age range of 21–45 years were recruited randomly for this research(300 males and 300 females).Observed height and PCTL were measured using the standard anthropometric technique,respectively.Stature was estimated from PCTL using simple regression analysis.On analysis of the data,the mean PCTL for male was found to be 43.60±2.31 cm while that of female was 42.55±2.83 cm.The observed height was 165.80±6.88 cm and 156.70±6.06 cm for male and female,respectively.Statistical analysis showed that the male values of the measured parameters were significantly higher than the corresponding female values.The linear regression equations derived for male and female for the estimation of height using the PCTL was found to be 5.289(PCTL)+(−64.78)and 4.230(TL)+(−23.28),respectively.It was concluded that stature can be estimated using the length of an intact mutilated leg.Thus,the data of this study are recommended in anthropological studies for stature estimation among the ethnic group under study.展开更多
To establish a profile of the causes of apparently unexplained SS in genetic ref erral center and evaluate the current referral system Methods This was a retrospective database survey on patients who were referred our...To establish a profile of the causes of apparently unexplained SS in genetic ref erral center and evaluate the current referral system Methods This was a retrospective database survey on patients who were referred our clini cal genetic service from 1988-1998 primarily because of SS We retrieved the st udy population from our computer database using "short stature" as a search han dle and then studied the demographic, clinical and laboratory data from their me dical records Results Three hundred and fifty three subjects were referred for genetic evaluation of SS in 1988-1998 The mean age of referred subjects was 11 5 years and the female to male ratio was 7 6 All referrals had undergone cytogenetic studies to exclude chromosomal abnormal ities, 19% of girls with apparently unexplained short stature had Turner syndrom e; at least 47 9% of the study population were normal variants and 25% of the referrals had inadequate information for classification Conclusions Genetic investigation is essential in the management of patients with SS, especi ally for girls suspected of having Turner syndrome, in which growth hormone trea tment has shown to improve final height We also highlight the inherited causes of short stature, which were often misdiagnosed as benign familial short statur e, and discussed the drawbacks of the current referral展开更多
这个标题非常触目,标题中的Stature就是“身材”的意思。标题可以四字直译:矮人命短。这并非是对现代人的研究结果,而是一种考古的发现:Therisk of death before age 30 declined as bone length increased。本文的观点之一是:Height is...这个标题非常触目,标题中的Stature就是“身材”的意思。标题可以四字直译:矮人命短。这并非是对现代人的研究结果,而是一种考古的发现:Therisk of death before age 30 declined as bone length increased。本文的观点之一是:Height is an indicator of childhood nutrition,which may have long-lasting effectson health,这个分析站得住脚吗?读者朋友,你信这个“邪”吗?】展开更多
BACKGROUND Acromicric dysplasia(AD)is a rare skeletal dysplasia.Its incidence is<1/1000000,and only approximately 60 cases are reported worldwide.It is a disease characterized by severe short stature,short hands an...BACKGROUND Acromicric dysplasia(AD)is a rare skeletal dysplasia.Its incidence is<1/1000000,and only approximately 60 cases are reported worldwide.It is a disease characterized by severe short stature,short hands and feet,facial abnormalities,normal intelligence,and bone abnormalities.Unlike other skeletal dysplasia,AD has a mild clinical phenotype,mainly characterized by short stature.Extensive endocrine examination has not revealed a potential cause.The clinical effect of growth hormone therapy is still uncertain.CASE SUMMARY We report a clinical phenotype of AD associated with mutations in the fibrillin 1(FBN1)(OMIM 102370)gene c.5183C>T(p.Ala1728Val)in three people from a Chinese family.A 4-year-old member of the family first visited the hospital because of slow growth and short stature for 2 years,but no abnormalities were found after a series of laboratory tests,echocardiography,pituitary magnetic resonance imaging,and ophthalmological examination.Recombinant human growth hormone(rhGH)was used to treat the patient for>5 years.The efficacy of rhGH was apparent in the first year of treatment;the height increased from-3.64 standard deviation score(SDS)to-2.88 SDS,while the efficacy weakened from the second year.However,long-term follow-up is required to clarify the efficacy of rhGH.CONCLUSION FBN1-related AD has genetic heterogeneity and/or clinical variability,which brings challenges to the evaluation of clinical treatment.rhGH is effective for treatment of AD,but long-term follow-up is needed to clarify the effect.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 Geleophysic dysplasia(GD)presents the characterized clinical manifestations of acromelic dysplasia,including extremely short stature,short limbs,small hands and feet,stubby fingers and toes,joint stiffness ...BACKGROUND Geleophysic dysplasia(GD)presents the characterized clinical manifestations of acromelic dysplasia,including extremely short stature,short limbs,small hands and feet,stubby fingers and toes,joint stiffness and others.It is clinically distinct from the other acromelic dysplasia in terms of symptoms such as cardiac valvular abnormalities,progressive hepatomegaly and tracheal stenosis.CASE SUMMARY We report on a Chinese 9-year-old girl with GD with the c.5243G>T(p.C1748F)mutation in FBN1(fibrillin 1,OMIM 134797).She was born in Guangxi Zhuang Autonomous Region of China.The patient presented with typical clinical features of GD and recurrent respiratory tract infections over 6 years.Laboratory studies and chest computed tomography(CT)scan indicated bronchopneumonia.Her echocardiography revealed mild mitral valve thickening with regurgitation.Laryngopharyngeal CT and electronic bronchoscopy revealed severe glottic stenosis.Echocardiography examination displayed mild mitral valve thickening and regurgitation.Ophthalmic examination did not reveal myopia or lens dislocation.Treated with ceftriaxone sodium and methylprednisolone sodium succinate for injection as well as methylprednisolone orally,patient’s symptoms had improved.CONCLUSION GD is a rare genetic condition that can cause life-threatening cardiovascular and respiratory problems.This study also found that the identified genotype of GD could be related to different clinical phenotypes.展开更多
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.
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.
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).
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.
文摘The estimation of stature is very important in forensic investigation,as it provides useful data that can narrow the pool of potentially matching identities.The purpose of this study was to develop formulae for the estimation of stature from footprint measurements in Bangladeshi adults.This study included 118 randomly selected men and 130 randomly selected women,all aged 18–50 years.From each participant,stature and six footprint measurements were taken by means of standard measurement techniques.Footprint measurements were found to be positively correlated with stature.Stature was estimated by using linear regression equations.The right T1 length in men(R:þ0.587,R^(2):0.345)and the right T2 length in women(R:þ0.506,R^(2):0.256)were the most reliable individual estimators of stature.However,when data were combined for both sexes,the right T2 length was identified as the most reliable estimator of stature,with higher values of R(þ0.792)and R^(2)(0.627).In conclusion,human stature can be successfully estimated by using footprint measurements;this finding can be applied in forensic research and investigation.
基金This study was supported by the National Natural Science Foundation of China(Grant No.81871526)the National Students’Innovative and Entrepreneurship Training Program(No.20181212112X).
文摘Stature estimation is widely used for individual identification in forensic field.Previous studies have proposed several regression equations derived from a single population for this purpose.However,this may not be suitable for other populations because of different hereditary and environmental conditions.In this study,stature estimation equations for southern China Han population have been provided.The study was conducted on a sample population of 121 men and women aged 18–25 years.A total of 19 parameters,including stature,head,torso,and parts of upper limbs and lower limbs,were measured according to standard anthropometric procedures.Herein,the anterior superior spine–malleolus medialis line showed the highest correlation coefficient(r=0.817)and was the most reliable predictor(R^(2)=0.667)in men,while the best predictor for women was total leg length(R^(2)=0.746)with the highest correlation coefficient(r=0.863).The regression analysis results via multiple predictors showed a high accuracy in stature estimation.Moreover,the analysis of multiple regression predictors showed that the dimensions of lower limbs were more reliable for stature estimation compared to head,torso,and upper limb measurements.This study provided equations of stature estimation for southern China Han population which can be useful in cases of dismembered body.
文摘Examination of footprints provides important evidence in crime scene investigations and helps in stature prediction of criminals.This study aimed to derive regression equations and multiplication factors for stature estimation from footprint dimensions in adult Nigerian medical students of the University of Lagos.Using an ink pad and a stadiometer,bilateral footprints and stature,respectively,were obtained from 230 subjects(100 males and 130 females)of Nigerian ancestry,aged 18-36 years upon satisfaction of the inclusion criteria and full written consent.The data collected were analyzed using SPSS version 20.Sexual dimorphism in stature and footprint dimensions was found to be statistically significant(P<0.05)with males having greater values than the females.Analyses of bilateral asymmetry indicated significant left footprint preponderance(P<0.05).There exist positive significant correlations(P<0.05)between stature and footprint dimensions(T.1-T.5 lengths,breadth at ball[BAB],and breadth at heel[BAH])in the males,females,and the pooled sample,with the only exception being the right and left breadths at heel in the males(r=0.112 and 0.183,respectively).The right and left T.2 lengths exhibited the highest correlation with statxire in the males,females,and the pooled sample with values of 0.704 and 0.703,0.749 and 0.736,and 0.853 and 0.84&respectively.Footprint dimensions are significantly correlated with stature,with the footprint length(T.1-T.5)dimensions showing more reliability and accuracy in stature prediction than the footprint breadth(BAH and BAB)dimensions.
文摘Estimating stature by developing linear regression equations which incorporate the features of fragmented body parts or human skeletal remains has been employed by many forensic anthropologists to establish the identity of victims of mass disaster although all formulas are ethnic,age,and gender specific.The study is aimed at using the percutaneous tibia length(PCTL)to deriving a specific regression equation formula which could be used to estimate the stature of adult indigenes of Bekwara ethnic group in Cross River State.A total number of 600 subjects within the age range of 21–45 years were recruited randomly for this research(300 males and 300 females).Observed height and PCTL were measured using the standard anthropometric technique,respectively.Stature was estimated from PCTL using simple regression analysis.On analysis of the data,the mean PCTL for male was found to be 43.60±2.31 cm while that of female was 42.55±2.83 cm.The observed height was 165.80±6.88 cm and 156.70±6.06 cm for male and female,respectively.Statistical analysis showed that the male values of the measured parameters were significantly higher than the corresponding female values.The linear regression equations derived for male and female for the estimation of height using the PCTL was found to be 5.289(PCTL)+(−64.78)and 4.230(TL)+(−23.28),respectively.It was concluded that stature can be estimated using the length of an intact mutilated leg.Thus,the data of this study are recommended in anthropological studies for stature estimation among the ethnic group under study.
文摘To establish a profile of the causes of apparently unexplained SS in genetic ref erral center and evaluate the current referral system Methods This was a retrospective database survey on patients who were referred our clini cal genetic service from 1988-1998 primarily because of SS We retrieved the st udy population from our computer database using "short stature" as a search han dle and then studied the demographic, clinical and laboratory data from their me dical records Results Three hundred and fifty three subjects were referred for genetic evaluation of SS in 1988-1998 The mean age of referred subjects was 11 5 years and the female to male ratio was 7 6 All referrals had undergone cytogenetic studies to exclude chromosomal abnormal ities, 19% of girls with apparently unexplained short stature had Turner syndrom e; at least 47 9% of the study population were normal variants and 25% of the referrals had inadequate information for classification Conclusions Genetic investigation is essential in the management of patients with SS, especi ally for girls suspected of having Turner syndrome, in which growth hormone trea tment has shown to improve final height We also highlight the inherited causes of short stature, which were often misdiagnosed as benign familial short statur e, and discussed the drawbacks of the current referral
文摘这个标题非常触目,标题中的Stature就是“身材”的意思。标题可以四字直译:矮人命短。这并非是对现代人的研究结果,而是一种考古的发现:Therisk of death before age 30 declined as bone length increased。本文的观点之一是:Height is an indicator of childhood nutrition,which may have long-lasting effectson health,这个分析站得住脚吗?读者朋友,你信这个“邪”吗?】
文摘BACKGROUND Acromicric dysplasia(AD)is a rare skeletal dysplasia.Its incidence is<1/1000000,and only approximately 60 cases are reported worldwide.It is a disease characterized by severe short stature,short hands and feet,facial abnormalities,normal intelligence,and bone abnormalities.Unlike other skeletal dysplasia,AD has a mild clinical phenotype,mainly characterized by short stature.Extensive endocrine examination has not revealed a potential cause.The clinical effect of growth hormone therapy is still uncertain.CASE SUMMARY We report a clinical phenotype of AD associated with mutations in the fibrillin 1(FBN1)(OMIM 102370)gene c.5183C>T(p.Ala1728Val)in three people from a Chinese family.A 4-year-old member of the family first visited the hospital because of slow growth and short stature for 2 years,but no abnormalities were found after a series of laboratory tests,echocardiography,pituitary magnetic resonance imaging,and ophthalmological examination.Recombinant human growth hormone(rhGH)was used to treat the patient for>5 years.The efficacy of rhGH was apparent in the first year of treatment;the height increased from-3.64 standard deviation score(SDS)to-2.88 SDS,while the efficacy weakened from the second year.However,long-term follow-up is required to clarify the efficacy of rhGH.CONCLUSION FBN1-related AD has genetic heterogeneity and/or clinical variability,which brings challenges to the evaluation of clinical treatment.rhGH is effective for treatment of AD,but long-term follow-up is needed to clarify the effect.
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 Geleophysic dysplasia(GD)presents the characterized clinical manifestations of acromelic dysplasia,including extremely short stature,short limbs,small hands and feet,stubby fingers and toes,joint stiffness and others.It is clinically distinct from the other acromelic dysplasia in terms of symptoms such as cardiac valvular abnormalities,progressive hepatomegaly and tracheal stenosis.CASE SUMMARY We report on a Chinese 9-year-old girl with GD with the c.5243G>T(p.C1748F)mutation in FBN1(fibrillin 1,OMIM 134797).She was born in Guangxi Zhuang Autonomous Region of China.The patient presented with typical clinical features of GD and recurrent respiratory tract infections over 6 years.Laboratory studies and chest computed tomography(CT)scan indicated bronchopneumonia.Her echocardiography revealed mild mitral valve thickening with regurgitation.Laryngopharyngeal CT and electronic bronchoscopy revealed severe glottic stenosis.Echocardiography examination displayed mild mitral valve thickening and regurgitation.Ophthalmic examination did not reveal myopia or lens dislocation.Treated with ceftriaxone sodium and methylprednisolone sodium succinate for injection as well as methylprednisolone orally,patient’s symptoms had improved.CONCLUSION GD is a rare genetic condition that can cause life-threatening cardiovascular and respiratory problems.This study also found that the identified genotype of GD could be related to different clinical phenotypes.
