期刊文献+
共找到16篇文章
< 1 >
每页显示 20 50 100
Short stature associated with a novel mutation in the aggrecan gene:A case report and literature review 被引量:2
1
作者 Li-Ping Yin Hong-Xue Zheng Hong Zhu 《World Journal of Clinical Cases》 SCIE 2022年第9期2811-2817,共7页
BACKGROUND Mutations in the aggrecan(ACAN)gene are identified in patients with:spondyloepiphyseal dysplasia,Kimberley type;short stature with advanced bone age(BA);in the presence or absence of heterozygous ACAN mutat... BACKGROUND Mutations in the aggrecan(ACAN)gene are identified in patients with:spondyloepiphyseal dysplasia,Kimberley type;short stature with advanced bone age(BA);in the presence or absence of heterozygous ACAN mutation-induced early-onset osteoarthritis and/or osteochondritis dissecans;and spondyloepimetaphyseal dysplasia,ACAN type.Heterozygous mutations contribute to spondyloepiphyseal dysplasia,Kimberley type(MIM#608361),which is a milder skeletal dysplasia.In contrast,homozygous mutations cause a critical skeletal dysplasia,which is called spondyloepimetaphyseal dysplasia,ACAN type(MIM#612813).Lately,investigations on exome and genome sequencing have shown that ACAN mutations can also lead to idiopathic short stature with or without an advanced BA,in the presence or absence of early-onset osteoarthritis and/or osteochondritis dissecans(MIM#165800).We herein reported a heterozygous defect of ACAN in a family with autosomal dominant short stature,BA acceleration,and premature growth cessation.CASE SUMMARY A 2-year-old male patient visited us due to growth retardation.The patient presented symmetrical short stature(height 79 cm,<-2 SD)without facial features and other congenital abnormalities.Whole-exome sequencing revealed a heterozygous pathogenic variant c.871C>T(p.Gln291*)of ACAN,which was not yet reported in cases of short stature.This mutation was also detected in his father and paternal grandmother.According to the Human Gene Mutation Database,67 ACAN mutations are registered.Most of these mutations are genetically inheritable,and very few children with short stature are associated with ACAN mutations.To date,heterozygous ACAN mutations have been reported in approximately 40 families worldwide,including a few individuals with a decelerated BA.CONCLUSION Heterozygous c.871C>T(p.Gln291*)variation of the ACAN gene was the disease-causing variant in this family.Collectively,our newly discovered mutation expanded the spectrum of ACAN gene mutations. 展开更多
关键词 short stature Aggrecan gene MUTATION Bone age Case report
下载PDF
The Wingate anaerobic test cannot be used for the evaluation of growth hormone secretion in children with short stature 被引量:1
2
作者 Nitzan Dror Liat Oren +2 位作者 Michal Pantanowitz Alon Eliakim Dan Nemet 《Journal of Sport and Health Science》 SCIE 2017年第4期443-446,共4页
Purpose: To assess the growth hormone(GH) response to the Wingate anaerobic test(WAn T) among children with short stature and suspected GH deficiency. We hypothesized that the GH response to the WAn T would be similar... Purpose: To assess the growth hormone(GH) response to the Wingate anaerobic test(WAn T) among children with short stature and suspected GH deficiency. We hypothesized that the GH response to the WAn T would be similar to the GH response to a commonly used pharmacologic provocation test.Methods: Ten children(6 males and 4 females, age range 9.0–14.9 years) participated in the study. Each participant performed 2 tests: a standard all-out WAn T, cycling for 30 s against constant resistance, and a standardized pharmacologic test(clonidine or glucagon). Blood samples for GH were collected before and 10, 30, 45, and 60 min after the beginning of exercise. In addition, we collected pre-and post-exercise blood lactate levels.Results: There was a significant increase in GH levels after the WAn T, yet in 9 of 10 participants, this increase was below the threshold for GH sufficiency. Peak GH after the WAn T was significantly lower compared to the pharmacologic GH provocation tests(with 9 of 10 demonstrating GH-sufficient response).Conclusion: The traditional WAn T cannot be used as a GH provocation test. Further research is needed to develop anaerobic exercise protocols sufficient to promote GH secretion. 展开更多
关键词 ANAEROBIC EXERCISE Growth hormone LACTATE Provocation test short stature
下载PDF
Detection of short stature homeobox 2 and RAS-associated domain family 1 subtype A DNA methylation in interventional pulmonology
3
作者 Jian Wu Peng Li 《World Journal of Clinical Cases》 SCIE 2021年第20期5391-5397,共7页
One of the most important aspects of interventional pulmonology is to obtain tissue or liquid samples of the chest to diagnose a respiratory disease;however,it is still possible to obtain insufficient tissue or cytolo... One of the most important aspects of interventional pulmonology is to obtain tissue or liquid samples of the chest to diagnose a respiratory disease;however,it is still possible to obtain insufficient tissue or cytologic specimens.Indeed,methylation detection is an effective method by which to establish a diagnosis.This review focuses on the clinical application of short stature homeobox 2 and RAS-associated domain family 1 subtype A DNA methylation detection in interventional pulmonology,including bronchoscopic fluid biopsy,transbronchial needle aspiration,and pleural effusion. 展开更多
关键词 DNA methylation Interventional pulmonology short stature homeobox 2 RAS-associated domain family 1 subtype A Fluid biopsy Transbronchial needle aspiration
下载PDF
Lean Healthy Children with Short Stature Have Distinct Eating Patterns
4
作者 Shir Hadani Yael Lebenthal +3 位作者 Liora Lazar Raanan Shamir Moshe Phillip Michal Yackobovitch-Gavan 《Journal of Food Science and Engineering》 2016年第6期299-307,共9页
Nutrition plays an essential role in normal linear growth in children. Knowledge of the eating styles and dietary consumption of healthy short children from developed countries is scarce. The aim of this study was to ... Nutrition plays an essential role in normal linear growth in children. Knowledge of the eating styles and dietary consumption of healthy short children from developed countries is scarce. The aim of this study was to investigate the dietary patterns in idiopathic short stature (ISS) and relatively low weight children compared to children with normal stature and weight. This research is a case-control study of 86 pre-pubertal healthy children, mean age 5.9 ± 1.5 years. The study group comprised 43 ISS children; 43 age-matched children with normal stature and weight served as controls. Outcome measures included: dietary patterns and physical activity. The absolute daily average energy, protein and carbohydrate intake was significantly lower in the ISS children (P 〈 0.05); after correcting for body surface area, no significant differences were found between groups. Intake of micronutrients calcium, iron, zinc, vitamin A and vitamin C, expressed as percentage from Recommended Dietary Allowance, was significantly lower in the ISS children (P 〈 0.05), who had lower food responsiveness, higher satiety responsiveness, lesser enjoyment of food and were slower eaters (P 〈 0.001). Physical activity was sedentary in both the ISS cases and controls. Our findings in healthy, pre-pubertal, relatively lean ISS children point to a distinct eating pattern with no alteration in physical activity. Understanding the differences in dietary intake and eating behaviors may be beneficial in the development of targeted nutritional intervention for lean ISS children. 展开更多
关键词 Dietary patterns eating behaviors lean children short stature.
下载PDF
Understanding Growth Hormone Secretion and Short Stature
5
作者 Milton Rodrigo Lafuente Covarrubias Luis Fernando de Azevedo Piovezani +4 位作者 Frederico Martins Cordeiro William Cabrera Viana Mirella Hansen de Almeida Denise Rosso Tenório Wanderley Rocha Alberto Krayyem Arbex 《Open Journal of Endocrine and Metabolic Diseases》 2016年第1期78-86,共9页
Short stature is a clinical challenge in the daily practice of pediatric endocrinology, regarding the several technical, cultural and economic factors associated with its approach. This article intends to review the p... Short stature is a clinical challenge in the daily practice of pediatric endocrinology, regarding the several technical, cultural and economic factors associated with its approach. This article intends to review the physiology of growth hormone secretion, the endocrine regulation of human growth and the clinical aspects of the diagnosis and treatment of short stature. It specifically analyses the treatment of short stature with growth hormone, along with its side effects, cost/benefit analysis and possible risks. A clinical case from a medical school is also described, intending a better understanding of this frequent ambulatory situation in endocrinology and pediatrics. 展开更多
关键词 Growth Hormone GH Treatment short stature Abnormal Growth CHILDREN
下载PDF
Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature 被引量:3
6
作者 Xin Fan Sen Zhao +27 位作者 Chenxi Yu Di Wu Zihui Yan Lijun Fan Yanning Song Yi Wang Chuan Li Yue Ming Baoheng Gui Yuchen Niu Xiaoxin Li Xinzhuang Yang Shiyu Luo Qiang Zhang Xiuli Zhao Hui Pan Mei Li Weibo Xia Guixing Qiu Pengfei Liu Shuyang Zhang Jianguo Zhang Zhihong Wu James R.Lupski Jennifer E.Posey Shaoke Chen Chunxiu Gong Nan Wu 《Journal of Genetics and Genomics》 SCIE CAS CSCD 2021年第5期396-402,共7页
Short stature is among the most common endocrinological disease phenotypes of childhood and may occur as an isolated finding or in conjunction with other clinical manifestations.Although the diagnostic utility of clin... Short stature is among the most common endocrinological disease phenotypes of childhood and may occur as an isolated finding or in conjunction with other clinical manifestations.Although the diagnostic utility of clinical genetic testing in short stature has been implicated,the genetic architecture and the utility of genomic studies such as exome sequencing(ES)in a sizable cohort of patients with short stature have not been investigated systematically.In this study,we recruited 561 individuals with short stature from two centers in China during a 4-year period.We performed ES for all patients and available parents.All patients were retrospectively divided into two groups:an isolated short stature group(group I,n=257)and an apparently syndromic short stature group(group II,n=304).Causal variants were identified in 135 of 561(24.1%)patients.In group I,29 of 257(11.3%)of the patients were solved by variants in 24 genes.In group II,106 of 304(34.9%)patients were solved by variants in 57 genes.Genes involved in fundamental cellularprocess played an important role in the genetic architecture of syndromic short stature.Distinct genetic architectures and pathophysiological processes underlie isolated and syndromic short stature. 展开更多
关键词 short stature Exome sequencing Molecular diagnosis VARIANTS Genes and growth
原文传递
Prevalence of short stature among children in China:A systematic review 被引量:11
7
作者 Fulun Li Ke Liu +4 位作者 Qianlong Zhao Junyi Chen Lingfei Liu Qingmu Xie Jing Yang 《Pediatric Investigation》 CSCD 2021年第2期140-147,共8页
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
关键词 PREVALENCE short stature META-ANALYSIS China
原文传递
ASSOCIATION ANALYSIS OF POLYMORPHISMS IN SIX GENES WITHIN THE GH/IGF-1 AXIS IN PATIENTS WITH IDIOPATHIC SHORT STATURE IN THE CHINESE HAN POPULATION 被引量:1
8
作者 滕月春 王伟 +6 位作者 黄薇 王莹 杨玉 卫海燕 陈少科 陈临琪 王德芬 《Medical Bulletin of Shanghai Jiaotong University》 CAS 2012年第1期1-9,共9页
Objective To investigate relationships of polymorphisms in six genes ( GHR, IGF-1, IGF-1R, IGFBP-3, JAK2, and STAT5b) in the growth hormone (GH)/insulin-like growth factor-1 (IGF-1) axis with idiopathic short st... Objective To investigate relationships of polymorphisms in six genes ( GHR, IGF-1, IGF-1R, IGFBP-3, JAK2, and STAT5b) in the growth hormone (GH)/insulin-like growth factor-1 (IGF-1) axis with idiopathic short stature (ISS) in the Chinese Han population. Methods A case- control study was carried out on a cohort of 198 ISS patients and 306 healthy controls. A total of 106 tagging single nucleotide polymorphisms (tagSNPs) from the six genes were selected from the HapMap (haplotype map of the human genome ) Han Chinese in the Beijing subset. Results of genotyping conducted by high- throughput lllumina GoldenGateTM Assay were analyzed by statistical software. Results Both individual tagSNPs and haplotypes showed an association with 1SS in the Han Chinese population ( P 〈 O. 05 ). For each single test, both allele and genotype were tested. By allele frequency analysis, six positive SNP sites ( rsNo. 1, rsNo. 2, rsNo. 3, rsNo. 4, rsNo. 5, and rsNo. 6) of 3 genes ( JAK2, 1GF-1R, and GHR) were found having associations with ISS. By genotype frequency analysis, there were significant differences between the patient and control groups in the following SNP sites: 4 sites in JAK2 gene ( rsNo. 1, rsNo. 2, rsNo. 3, and rsNo. 4) and 1 site in GHR gene ( rsNo. 6). The risk which affected ISS was found related to the JAK2 gene in 4 sites ( increase in rsNo. 1 and decrease in rsNo. 2, rsNo. 3, and rsNo. 4 ) and to the GHR gene in 1 site (decrease in rsNo. 6). They were four haplotypes in gene of IGF-1R as "TGC", "CGCT", "TA", and " CA", one haplotype in IGFBP-3 as "TA", and one haplotype in JAK2 as "CTG", which revealed high significance for risks of affecting ISS. At last, multivariate logistic regression analysis of specific site rsNo. 6 of the GHR gene revealed that the serum IGF-1 was related to genotypes AA and AC, with genotype CC as the reference ( P =0. 015). Conclusion Genetic variances in six genes within the GH/IGF-1 axis may be important etiological factors for ISS in the Chinese Han population. 展开更多
关键词 association analysis growth hormone (GH)/insulin-like growth factor-1 1GF1 axis idiopathic short stature polymorphism
原文传递
Talking about Height and Quality of Life: A Content-Analysis of Focus Group Discussions with Short-Statured Children and Their Parents in the US
9
作者 Rachel Sommer Monika Bullinger +5 位作者 Andreas Pleil Nelly Mauras Judith Ross Ron Newfield Janet Fox Julia Quitmann 《Open Journal of Endocrine and Metabolic Diseases》 2016年第11期229-241,共13页
Background: To understand what life is like for US children with a diagnosis of Growth Hormone Deficiency or Idiopathic Short Stature, the impact of short stature on Health related Quality of Life (HrQoL) was qualitat... Background: To understand what life is like for US children with a diagnosis of Growth Hormone Deficiency or Idiopathic Short Stature, the impact of short stature on Health related Quality of Life (HrQoL) was qualitatively examined and needs for care from the young patients and their parents perspective were identified. Methods: Focus group discussions with 26 American-English speaking and nine American-Spanish speaking children and their parents were conducted, transcribed verbatim and subsequently qualitatively analyzed by two independent raters, using an existing coding guideline, based on the multidimensional HrQoL concept and a special software (VERBI-Software MAXQDA 10). Results: A total of 1313 statements for the English-speaking and 447 statements for the Spanish-speaking families were categorized. In the US, the strongest frequency of mention was found for the HrQoL dimension “Social” across respondents, followed by “Treatment” and “Emotion”. Conclusion: Conducting and analyzing data generated from focus groups ensure that young patients’ experiences of disease are represented in the measure of outcomes for use in clinical trials and patient care. 展开更多
关键词 short stature Quality of Life CHILDREN Focus Groups
下载PDF
Short Stature Linked to Shorter Life
10
作者 顾德华 《当代外语研究》 2001年第7期20-20,共1页
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
关键词 LENGTH short stature Linked to shorter Life
原文传递
Magnetic resonance imaging of knees:a novel approach to predict recombinant human growth hormone therapy response in short-stature children in late puberty
11
作者 Xi Bai Zhi‑Bo Zhou +9 位作者 Xiao‑Yuan Guo Yi‑Ling He Yue‑Lun Zhang Feng‑Dan Wang Feng Feng Hong‑Bo Yang Shi Chen Feng‑Ying Gong Hui‑Juan Zhu Hui Pan 《World Journal of Pediatrics》 SCIE CSCD 2024年第7期723-734,共12页
Background There is no appropriate tool to predict recombinant human growth hormone(rhGH)response before therapy initiation in short-stature children in late puberty.The current study aimed to explore the associations... Background There is no appropriate tool to predict recombinant human growth hormone(rhGH)response before therapy initiation in short-stature children in late puberty.The current study aimed to explore the associations between magnetic resonance imaging(MRI)stages of the knee growth plates and rhGH response in short-stature children in late puberty.Methods In this prospective cohort study,short-stature children in late puberty were treated with rhGH and followed up for 6 months.We proposed a novel knee MRI staging system according to the growth plate states of distal femurs or proximal tibias and divided the participants into three groups:unclosed growth plate group,marginally closed growth plate group,and nearly closed growth plate group.The primary outcomes were height gain and growth velocity(GV),which were assessed three months later.Results Fifty participants were enrolled,including 23 boys and 27 girls.GV and height gain after 6 months of rhGH therapy decreased successively in the three groups with an increased degree of growth plate fusion,especially when grouped by proximal tibias(GV_(1-3 mon)from 9.38 to 6.08 to 4.56 cm/year,GV_(4-6 mon)from 6.75 to 4.92 to 3.25 cm/year,and height gain from 4.03 to 2.75 to 1.95 cm,all P<0.001).Moreover,the MRI stages of growth plates independently served as a significant variable for GV and height gain after therapy,especially when grouped by proximal tibias(all P<0.01).Conclusion The MRI staging method is expected to be an effective tool for predicting rhGH response before therapy initiation in short-stature children in late puberty. 展开更多
关键词 Growth hormone Growth velocity Late puberty Magnetic resonance imaging short stature
原文传递
Acromicric dysplasia caused by a mutation of fibrillin 1 in a family:A case report 被引量:2
12
作者 Ren Shen Jian-Hua Feng Shan-Pu Yang 《World Journal of Clinical Cases》 SCIE 2023年第9期2036-2042,共7页
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
关键词 Fibrillin 1 Gene Acromicric dysplasia short stature Recombinant human growth hormone Case report
下载PDF
Burden of celiac disease in the Mediterranean area 被引量:2
13
作者 Luigi Greco Laura Timpone +10 位作者 Abdelhak Abkari Mona Abu-Zekry Thomas Attard Faouzi Bouguerrà Paskal Cullufi Aydan Kansu Dusanka Micetic-Turk Zrinjka Miak Eleftheria Roma Raanan Shamir Selma Terzic 《World Journal of Gastroenterology》 SCIE CAS CSCD 2011年第45期4971-4978,共8页
AIM: To estimate the burden of undiagnosed celiac disease (CD) in the Mediterranean area in terms of morbidity, mortality and health cost. METHODS: For statistics regarding the population of each country in the Medite... AIM: To estimate the burden of undiagnosed celiac disease (CD) in the Mediterranean area in terms of morbidity, mortality and health cost. METHODS: For statistics regarding the population of each country in the Mediterranean area, we accessed authoritative international sources (World Bank, World Health Organization and United Nations). The prevalence of CD was obtained for most countries from published reports. An overall prevalence rate of 1% cases/total population was finally estimated to represent the frequency of the disease in the area, since none of the available conf idence intervals of the reported rates significantly excluded this rate. The distribution of symptoms and complications was obtained from reliable reports in the same cohort. A standardized mortality rate of 1.8 was obtained from recent reports. Crude health cost was estimated for the years between symptoms and diagnosis for adults and children, and was standardized for purchasing power parity to account for the different economic prof iles amongst Mediterranean countries. RESULTS: In the next 10 years, the Mediterranean area will have about half a billion inhabitants, of which 120 million will be children. The projected number of CD diagnoses in 2020 is 5 million cases (1 million celiac children), with a relative increase of 11% compared to 2010. Based on the 2010 rate, there will be about 550 000 symptomatic adults and about 240 000 sick children: 85% of the symptomatic patients will suffer from gastrointestinal complaints, 40% are likely to have anemia, 30% will likely have osteopenia, 20% of children will have short stature, and 10% will have abnormal liver enzymes. The estimated standardized medical costs for symptomatic celiac patients during the delay between symptom onset and diagnosis (mean 6 years for adults, 2 years for children) will be about €4 billion (€387 million for children) over the next 10 years. A delay in diagnosis is expected to increase mortality: about 600 000 celiac patients will die in the next 10 years, with an excess of 44.4% vs age-and sexmatched controls. CONCLUSION: In the near future, the burden of CD will increase tremendously. Few Mediterranean countries are able to face this expanding epidemic alone. 展开更多
关键词 PEDIATRIC Celiac disease short stature ANEMIA OSTEOPENIA Purchasing power parity Standardized mortality rate Mediterranean area
下载PDF
Geleophysic dysplasia caused by a mutation in FBN1:A case report 被引量:3
14
作者 Ying Tao Qing Wei +1 位作者 Xun Chen Guang-Min Nong 《World Journal of Clinical Cases》 SCIE 2021年第24期7175-7180,共6页
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
关键词 Fibrillin 1 Geleophysic dysplasia Acromelic dysplasia short stature Tracheal stenosis Case report
下载PDF
Costello Syndrome with Congenital Pulmonary Valve Stenosis and Ventriculomegaly—A Case Report 被引量:1
15
作者 Ramachandran Muthiah 《Case Reports in Clinical Medicine》 2016年第8期250-267,共18页
Costello syndrome is an extremely rare genetic disorder with growth delay after birth and typically results in short stature during childhood. It is one of the RASopathy of Ras/MAPK pathway syndromes. It affects the t... Costello syndrome is an extremely rare genetic disorder with growth delay after birth and typically results in short stature during childhood. It is one of the RASopathy of Ras/MAPK pathway syndromes. It affects the transforming protein p<sup>21</sup>, an enzyme that in humans is encoded by the HRAS gene. H-Ras is a small G protein and once bound to Guanosine triphosphate, it will activate a Raf kinase like C-Raf, the next step in the MAPK/ERK pathway (mitogen-actvated protein kinase/extracellular signal-regulated kinase) i.e., MEK (mitogen-actvated ERK kinase), a protein that phosphorylate ERK which can directly and indirectly activate many transcription factors. This pathway is also known as Ras-Raf, MEK-ERK pathway, which is a chain of proteins on the cell that communicate a signal from a receptor on the surface of the cell to the DNA in the nucleus of the cell. Activation of ERK 1/2 is involved in signal transduction pathways associated with cardiac hypertrophy. The developmental syndromes caused by germline mutations in genes that alter the RAS components of the MAP/ERK signal transduction pathway are called “RASopathies”. Cardiovascular abnormalities are important features of Costello syndrome and other RASopathies such as Noonan syndrome. Background of this case report described the congenital valvular pulmonic stenosis and ventriculomegaly associated with Costello syndrome by transthoracic echocardiographic imaging in a 9-year-old male boy. 展开更多
关键词 Costello Syndrome Rasopathy short stature Congenital Valvular Pulmonic Stenosis VENTRICULOMEGALY
下载PDF
矮身材儿童诊治指南 被引量:487
16
作者 中华医学会儿科学分会内分泌遗传代谢学组 王慕逖 《中华儿科杂志》 CAS CSCD 北大核心 2008年第6期428-430,共3页
中华医学会儿科学分会内分泌遗传代谢学组在1998年曾提出临床应用基因重组人生长激素的建议(中华儿科杂志,1999,37:234),在此基础上,2006年10月再次对矮身材儿童的诊断治疗进行了广泛深入的讨论,取得了一致意见,现综合如下,俾便临床工... 中华医学会儿科学分会内分泌遗传代谢学组在1998年曾提出临床应用基因重组人生长激素的建议(中华儿科杂志,1999,37:234),在此基础上,2006年10月再次对矮身材儿童的诊断治疗进行了广泛深入的讨论,取得了一致意见,现综合如下,俾便临床工作者参考. 展开更多
关键词 矮身材儿童 诊治指南 short stature 重组人生长激素 诊断治疗 遗传代谢 临床应用 儿科学 医学会 内分泌 工作者 基因 基础
原文传递
上一页 1 下一页 到第
使用帮助 返回顶部