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
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
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
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
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
Pitting corrosion is harmful during bridge construction,which will lead to uneven roughness of steel surfaces and reduce the thickness of steel.Hence,the effect of pitting corrosion on the mechanical properties of col...Pitting corrosion is harmful during bridge construction,which will lead to uneven roughness of steel surfaces and reduce the thickness of steel.Hence,the effect of pitting corrosion on the mechanical properties of cold-formed thin-walled steel stub columns is studied,and the empirical formulas are established through regression fitting to predict the ultimate load of web and flange under pitting corrosion.In detail,the failure modes and load-displacement curves of specimens with different locations,area ratios,and depths are obtained through a large number of non-linear finite element analysis.As for the specimens with pitting corrosion on the web,all the specimens are subject to local buckling failure,and the failure mode will not change with pitting corrosion,but the failure location will change with pitting corrosion location;the size,location,and area ratio of pitting corrosion have little influence on the ultimate load of cold-formed thin-walled steel short columns,but the loss rate of pitting corrosion section area has a greater impact on the ultimate bearing capacity.As for the specimen with flange pitting corrosion,the location and area ratio of pitting corrosion have less influence on the ultimate load of cold-formed thin-walled steel short columns,and the section area loss rate has greater influence on the ultimate bearing capacity;the impact of web pitting corrosion on the ultimate load is greater than that of flange pitting corrosion under the same condition of pitting corrosion section area.The prediction formulas of limit load which are suitable for pitting corrosion of web and flange are established,which can provide a reference for performance evaluation of corroded cold-formed thin-walled steel.展开更多
Objective:To design and manufacture medical scrotal support shorts for patients with enlarged scrotum and observe its application and effect.Methods:40 patients with enlarged scrotum admitted to the basic surgery depa...Objective:To design and manufacture medical scrotal support shorts for patients with enlarged scrotum and observe its application and effect.Methods:40 patients with enlarged scrotum admitted to the basic surgery department from February 2021 to March 2023 were selected and divided into a test group and a control group according to their time of admission,with the test group using scrotal support shorts and the control group using ordinary shorts without scrotal support pockets or diapers.Results:The complication rate of skin injury in the scrotum and the surrounding inguinal area of the patients in the test group was significantly lower than that of the control group(P<0.01).The medical cost covered by patients in the test group was significantly lower than that of the control group(P<0.01)and the hospitalization satisfaction of the patients in the test group was significantly higher than that of the control group(P<0.01).The difference in the therapeutic effect of the test groups was statistically significant when compared with the control group(P<0.05).Conclusion:Homemade medical scrotal support shorts reduced the local enlargement of the scrotum and bleeding,but also protected the scrotum and the surrounding skin to prevent secondary injuries.The process of patient care was simple and promoted their recovery.The length of hospitalization was also decreased,the burden of health care costs was reduced,and the overall comfort and satisfaction of the patient was improved.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
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
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
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
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（IS...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 casecontrol 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 highthroughput Illumina GoldenGate?Assay were analyzed by statistical software.Results Both individual tagSNPs and haplotypes showed an association with ISS in the Han Chinese population（P <0.05）.For each single test,both allele and genotype were tested.By allele frequency analysis,six positive SNP sites （rsNo.l,rsNo.2,rsNo.3,rsNo.4,rsNo.5,and rsNo.6）of 3 genes（JAK2,IGF-1 R,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-1 R 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
Developing precise and fast methods for short circuit detection is crucial for preventing or mitigating the risk of safety issues of lithium-ion batteries(LIBs).In this paper,we developed a Convolutional Neural Networ...Developing precise and fast methods for short circuit detection is crucial for preventing or mitigating the risk of safety issues of lithium-ion batteries(LIBs).In this paper,we developed a Convolutional Neural Networks(CNN)based model that can quickly and precisely predict the short circuit resistance of LIB cells during various working conditions.Cycling tests of cells with an external short circuit(ESC)are produced to obtain the database and generate the training/testing samples.The samples are sequences of voltage,current,charging capacity,charging energy,total charging capacity,total charging energy with a length of 120 s and frequency of 1 Hz,and their corresponding short circuit resistances.A big database with~6×10^(5)samples are generated,covering various short circuit resistances(47~470Ω),current loading modes(Constant current-constant voltage(CC-CV)and drive cycle),and electrochemical states(cycle numbers from 1 to 300).Results show that the average relative absolute error of five random sample splits is 6.75%±2.8%.Further parametric analysis indicates the accuracy estimation benefits from the appropriate model setups:the optimized input sequence length(~120 s),feature selection(at least one total capacity-related variable),and rational model design,using multiple layers with different kernel sizes.This work highlights the capabilities of machine learning algorithms and data-driven methodologies in real-time safety risk prediction for batteries.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
Traffic flow prediction in urban areas is essential in the IntelligentTransportation System (ITS). Short Term Traffic Flow (STTF) predictionimpacts traffic flow series, where an estimation of the number of vehicleswil...Traffic flow prediction in urban areas is essential in the IntelligentTransportation System (ITS). Short Term Traffic Flow (STTF) predictionimpacts traffic flow series, where an estimation of the number of vehicleswill appear during the next instance of time per hour. Precise STTF iscritical in Intelligent Transportation System. Various extinct systems aim forshort-term traffic forecasts, ensuring a good precision outcome which was asignificant task over the past few years. The main objective of this paper is topropose a new model to predict STTF for every hour of a day. In this paper,we have proposed a novel hybrid algorithm utilizing Principal ComponentAnalysis (PCA), Stacked Auto-Encoder (SAE), Long Short Term Memory(LSTM), and K-Nearest Neighbors (KNN) named PALKNN. Firstly, PCAremoves unwanted information from the dataset and selects essential features.Secondly, SAE is used to reduce the dimension of input data using onehotencoding so the model can be trained with better speed. Thirdly, LSTMtakes the input from SAE, where the data is sorted in ascending orderbased on the important features and generates the derived value. Finally,KNN Regressor takes information from LSTM to predict traffic flow. Theforecasting performance of the PALKNN model is investigated with OpenRoad Traffic Statistics dataset, Great Britain, UK. This paper enhanced thetraffic flow prediction for every hour of a day with a minimal error value.An extensive experimental analysis was performed on the benchmark dataset.The evaluated results indicate the significant improvement of the proposedPALKNN model over the recent approaches such as KNN, SARIMA, LogisticRegression, RNN, and LSTM in terms of root mean square error (RMSE)of 2.07%, mean square error (MSE) of 4.1%, and mean absolute error (MAE)of 2.04%.展开更多
Although short implants are seen as alternative treatments that require additional surgical techniques in posterior region, they can be applied to anterior maxilla and various studies are required on this subject. The...Although short implants are seen as alternative treatments that require additional surgical techniques in posterior region, they can be applied to anterior maxilla and various studies are required on this subject. The purpose of this study was to examine and compare the peak von Mises stress distributions in the crown, implant and abutment by using finite element analysis (FEA). Besides, a comparison of the implant-abutment connection types in the short implant with the FEA method was established. A short implant (4 × 5 mm) with a taper-lock connection and a regular implant (4 × 9 mm) with a screw connection were used in maxillary central incisor tooth area. Three different titanium abutments with 0?, 15? and 25? angles were used for abutments. In addition, in order to determine whether the stress change in short implants is due to the length of the implant-abutment connection, a screw was designed for a short implant and it was also evaluated in the same three angles. A total of three groups and nine models were generated. 114.6N load was applied to the cingulum area of the crown at an angle of 135? to the long axis of the crowns. A torque load of 25 Ncm was applied to the regular and short implant screw. Von Mises stress distributions of implants, abutments and crowns were evaluated by using FEA. Increased angle in implants increased von Mises stress values of implant, abutment and crown. Screw connection was found higher at all angles in short implants. Close values were found at different angles in taper-lock short implant crowns. The length and the angle in the bone of implant with the type of implant-abutment connection results in the accumulated stress values. Clinical Implications Taper implant-abutment connection system was found to be more promising in terms of stress accumulation in crowns. Although the amount of stress on the abutment increased due to the length of the implant in short implants, taper implant-abutment connection system slightly reduced related to this increase.展开更多
With the popularity of 5G and the rapid development of mobile terminals,an endless stream of short video software exists.Browsing short-form mobile video in fragmented time has become the mainstream of user’s life.He...With the popularity of 5G and the rapid development of mobile terminals,an endless stream of short video software exists.Browsing short-form mobile video in fragmented time has become the mainstream of user’s life.Hence,designing an efficient short video recommendation method has become important for major network platforms to attract users and satisfy their requirements.Nevertheless,the explosive growth of data leads to the low efficiency of the algorithm,which fails to distill users’points of interest on one hand effectively.On the other hand,integrating user preferences and the content of items urgently intensify the requirements for platform recommendation.In this paper,we propose a collaborative filtering algorithm,integrating time context information and user context,which pours attention into expanding and discovering user interest.In the first place,we introduce the temporal context information into the typical collaborative filtering algorithm,and leverage the popularity penalty function to weight the similarity between recommended short videos and the historical short videos.There remains one more point.We also introduce the user situation into the traditional collaborative filtering recommendation algorithm,considering the context information of users in the generation recommendation stage,and weight the recommended short-formvideos of candidates.At last,a diverse approach is used to generate a Top-K recommendation list for users.And through a case study,we illustrate the accuracy and diversity of the proposed method.展开更多
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.
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.
基金funded by the‘Research Project of the Sucheng to Sihong Section of the Yanluo Expressway-Measurement Technology and Application of Bridge Quality Project Based on UAV Binocular Imaging(No.00-00-JSFW-20230203-029)’,received by H.Z.Wang.
文摘Pitting corrosion is harmful during bridge construction,which will lead to uneven roughness of steel surfaces and reduce the thickness of steel.Hence,the effect of pitting corrosion on the mechanical properties of cold-formed thin-walled steel stub columns is studied,and the empirical formulas are established through regression fitting to predict the ultimate load of web and flange under pitting corrosion.In detail,the failure modes and load-displacement curves of specimens with different locations,area ratios,and depths are obtained through a large number of non-linear finite element analysis.As for the specimens with pitting corrosion on the web,all the specimens are subject to local buckling failure,and the failure mode will not change with pitting corrosion,but the failure location will change with pitting corrosion location;the size,location,and area ratio of pitting corrosion have little influence on the ultimate load of cold-formed thin-walled steel short columns,but the loss rate of pitting corrosion section area has a greater impact on the ultimate bearing capacity.As for the specimen with flange pitting corrosion,the location and area ratio of pitting corrosion have less influence on the ultimate load of cold-formed thin-walled steel short columns,and the section area loss rate has greater influence on the ultimate bearing capacity;the impact of web pitting corrosion on the ultimate load is greater than that of flange pitting corrosion under the same condition of pitting corrosion section area.The prediction formulas of limit load which are suitable for pitting corrosion of web and flange are established,which can provide a reference for performance evaluation of corroded cold-formed thin-walled steel.
文摘Objective:To design and manufacture medical scrotal support shorts for patients with enlarged scrotum and observe its application and effect.Methods:40 patients with enlarged scrotum admitted to the basic surgery department from February 2021 to March 2023 were selected and divided into a test group and a control group according to their time of admission,with the test group using scrotal support shorts and the control group using ordinary shorts without scrotal support pockets or diapers.Results:The complication rate of skin injury in the scrotum and the surrounding inguinal area of the patients in the test group was significantly lower than that of the control group(P<0.01).The medical cost covered by patients in the test group was significantly lower than that of the control group(P<0.01)and the hospitalization satisfaction of the patients in the test group was significantly higher than that of the control group(P<0.01).The difference in the therapeutic effect of the test groups was statistically significant when compared with the control group(P<0.05).Conclusion:Homemade medical scrotal support shorts reduced the local enlargement of the scrotum and bleeding,but also protected the scrotum and the surrounding skin to prevent secondary injuries.The process of patient care was simple and promoted their recovery.The length of hospitalization was also decreased,the burden of health care costs was reduced,and the overall comfort and satisfaction of the patient was improved.
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 casecontrol 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 highthroughput Illumina GoldenGate?Assay were analyzed by statistical software.Results Both individual tagSNPs and haplotypes showed an association with ISS in the Han Chinese population（P <0.05）.For each single test,both allele and genotype were tested.By allele frequency analysis,six positive SNP sites （rsNo.l,rsNo.2,rsNo.3,rsNo.4,rsNo.5,and rsNo.6）of 3 genes（JAK2,IGF-1 R,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-1 R 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.
基金supported by the U.S.Department of Energy’s Office on Energy Efficiency and Renewable Energy(EERE)under the Advanced Manufacturing Office,award number DE-EE0009111。
文摘Developing precise and fast methods for short circuit detection is crucial for preventing or mitigating the risk of safety issues of lithium-ion batteries(LIBs).In this paper,we developed a Convolutional Neural Networks(CNN)based model that can quickly and precisely predict the short circuit resistance of LIB cells during various working conditions.Cycling tests of cells with an external short circuit(ESC)are produced to obtain the database and generate the training/testing samples.The samples are sequences of voltage,current,charging capacity,charging energy,total charging capacity,total charging energy with a length of 120 s and frequency of 1 Hz,and their corresponding short circuit resistances.A big database with~6×10^(5)samples are generated,covering various short circuit resistances(47~470Ω),current loading modes(Constant current-constant voltage(CC-CV)and drive cycle),and electrochemical states(cycle numbers from 1 to 300).Results show that the average relative absolute error of five random sample splits is 6.75%±2.8%.Further parametric analysis indicates the accuracy estimation benefits from the appropriate model setups:the optimized input sequence length(~120 s),feature selection(at least one total capacity-related variable),and rational model design,using multiple layers with different kernel sizes.This work highlights the capabilities of machine learning algorithms and data-driven methodologies in real-time safety risk prediction for batteries.
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Traffic flow prediction in urban areas is essential in the IntelligentTransportation System (ITS). Short Term Traffic Flow (STTF) predictionimpacts traffic flow series, where an estimation of the number of vehicleswill appear during the next instance of time per hour. Precise STTF iscritical in Intelligent Transportation System. Various extinct systems aim forshort-term traffic forecasts, ensuring a good precision outcome which was asignificant task over the past few years. The main objective of this paper is topropose a new model to predict STTF for every hour of a day. In this paper,we have proposed a novel hybrid algorithm utilizing Principal ComponentAnalysis (PCA), Stacked Auto-Encoder (SAE), Long Short Term Memory(LSTM), and K-Nearest Neighbors (KNN) named PALKNN. Firstly, PCAremoves unwanted information from the dataset and selects essential features.Secondly, SAE is used to reduce the dimension of input data using onehotencoding so the model can be trained with better speed. Thirdly, LSTMtakes the input from SAE, where the data is sorted in ascending orderbased on the important features and generates the derived value. Finally,KNN Regressor takes information from LSTM to predict traffic flow. Theforecasting performance of the PALKNN model is investigated with OpenRoad Traffic Statistics dataset, Great Britain, UK. This paper enhanced thetraffic flow prediction for every hour of a day with a minimal error value.An extensive experimental analysis was performed on the benchmark dataset.The evaluated results indicate the significant improvement of the proposedPALKNN model over the recent approaches such as KNN, SARIMA, LogisticRegression, RNN, and LSTM in terms of root mean square error (RMSE)of 2.07%, mean square error (MSE) of 4.1%, and mean absolute error (MAE)of 2.04%.
文摘Although short implants are seen as alternative treatments that require additional surgical techniques in posterior region, they can be applied to anterior maxilla and various studies are required on this subject. The purpose of this study was to examine and compare the peak von Mises stress distributions in the crown, implant and abutment by using finite element analysis (FEA). Besides, a comparison of the implant-abutment connection types in the short implant with the FEA method was established. A short implant (4 × 5 mm) with a taper-lock connection and a regular implant (4 × 9 mm) with a screw connection were used in maxillary central incisor tooth area. Three different titanium abutments with 0?, 15? and 25? angles were used for abutments. In addition, in order to determine whether the stress change in short implants is due to the length of the implant-abutment connection, a screw was designed for a short implant and it was also evaluated in the same three angles. A total of three groups and nine models were generated. 114.6N load was applied to the cingulum area of the crown at an angle of 135? to the long axis of the crowns. A torque load of 25 Ncm was applied to the regular and short implant screw. Von Mises stress distributions of implants, abutments and crowns were evaluated by using FEA. Increased angle in implants increased von Mises stress values of implant, abutment and crown. Screw connection was found higher at all angles in short implants. Close values were found at different angles in taper-lock short implant crowns. The length and the angle in the bone of implant with the type of implant-abutment connection results in the accumulated stress values. Clinical Implications Taper implant-abutment connection system was found to be more promising in terms of stress accumulation in crowns. Although the amount of stress on the abutment increased due to the length of the implant in short implants, taper implant-abutment connection system slightly reduced related to this increase.
文摘With the popularity of 5G and the rapid development of mobile terminals,an endless stream of short video software exists.Browsing short-form mobile video in fragmented time has become the mainstream of user’s life.Hence,designing an efficient short video recommendation method has become important for major network platforms to attract users and satisfy their requirements.Nevertheless,the explosive growth of data leads to the low efficiency of the algorithm,which fails to distill users’points of interest on one hand effectively.On the other hand,integrating user preferences and the content of items urgently intensify the requirements for platform recommendation.In this paper,we propose a collaborative filtering algorithm,integrating time context information and user context,which pours attention into expanding and discovering user interest.In the first place,we introduce the temporal context information into the typical collaborative filtering algorithm,and leverage the popularity penalty function to weight the similarity between recommended short videos and the historical short videos.There remains one more point.We also introduce the user situation into the traditional collaborative filtering recommendation algorithm,considering the context information of users in the generation recommendation stage,and weight the recommended short-formvideos of candidates.At last,a diverse approach is used to generate a Top-K recommendation list for users.And through a case study,we illustrate the accuracy and diversity of the proposed method.
