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1

JAMA Patient Page: Short Stature  

MedlinePLUS

... Association. All rights reserved. JAMA PATIENT PAGE| Pediatrics Short Stature Short stature means that a person is significantly shorter than ... 3% of people in the United States have short stature. What Causes Short Stature? Short stature can have ...

2

Short stature  

MedlinePLUS

... while in the womb ( intrauterine growth restriction ) or small for gestational age This list does not include every possible cause ... by 2 - 3 inches. The child was born small for gestational age If your child is a boy with short ...

3

Imaging in short stature  

PubMed Central

Short stature can be a sign of disease, disability, and social stigma causing psychological stress. It is important to have an early diagnosis and treatment. Short stature may result from skeletal dysplasias, endocrine disorders, may be familial, or may be the result of malnutrition and chronic illnesses. A team effort of the healthcare professionals like pediatricians, endocrinologists, radiologists, and pathologists is required to diagnose, treat and monitor various pathological conditions associated with growth abnormality. In this review, we have discussed the role of imaging in diagnosing and characterizing various pathological conditions associated with short stature. PMID:23087851

Chaudhary, Vikas; Bano, Shahina

2012-01-01

4

Hypotonia  

MedlinePLUS

... the hypotonia. Infants with hypotonia have a floppy quality or “rag doll” appearance because their arms and legs hang by their sides and they have little or no head control. Other symptoms of hypotonia include problems with mobility ...

5

Short Stature: Psychosocial Interventions  

Microsoft Academic Search

The use of the term ‘psychosocial interventions’ in the title implies that short stature (SS) carries with it a burden predisposing the person to problems of psychological adjustment. Because of the visible salience of SS and its potential to serve as a lightning rod for false causal attributions, there is a need to differentiate assumptions and stereotypes from evidence. This

David E. Sandberg

2011-01-01

6

Syndromic Disorders with Short Stature  

PubMed Central

Short stature is one of the major components of many dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH)/insulin-like growth factor axis or to underlying unknown pathologies. In this review, the relatively more frequently seen syndromes with short stature (Noonan syndrome, Prader-Willi syndrome, Silver-Russell syndrome and Aarskog-Scott syndrome) were discussed. These disorders are associated with a number of endocrinopathies, as well as with developmental, systemic and behavioral issues. At present, GH therapy is used in most syndromic disorders, although long-term studies evaluating this treatment are insufficient and some controversies exist with regard to GH dose, optimal age to begin therapy and adverse effects. Before starting GH treatment, patients with syndromic disorders should be evaluated extensively. PMID:24637303

??klar, Zeynep; Berbero?lu, Merih

2014-01-01

7

Short Stature in Childhood and Adolescence  

PubMed Central

Childhood short stature is common in family practice. Familial short stature and constitutional growth delay account for most cases, and there are clear guidelines for differentiating these from each other and from less common pathologic conditions. Appropriate investigation, treatment, and referral are delineated, and growth hormone therapy is described. An integrated medical-psychosocial approach to care is recommended. PMID:21229093

Schnell, Frank N.; Bannard, James R.

1991-01-01

8

Short Stature in Childhood and Adolescence  

PubMed Central

The literature on the psychosocial impact of short stature in childhood and adolescence is reviewed, with particular reference to IQ and educational attainment, personality and psychopathology, and the concept of infantilization. Adult outcome studies are also reviewed with comments on inherent methodological problems. Suggestions are offered for the psychosocial management of short stature. PMID:21229094

Bannard, James R.; Schnell, Frank N.

1991-01-01

9

Psychological Criteria for Treating Children with Idiopathic Short Stature  

Microsoft Academic Search

The role of psychological criteria in guiding treatment decisions about growth hormone (GH) replacement in idiopathic short stature (ISS) is a current topic of debate. This summary discusses findings about the impact of short stature in terms of observer-rated and patient-reported psychological outcomes. Although a literature review did not provide conclusive evidence for differences in psychological status between short children

Monika Bullinger

2011-01-01

10

Growth hormone, enhancement and the pharmaceuticalisation of short stature.  

PubMed

This paper takes the biological drug human Growth Hormone (hGH) as a case study to investigate processes of pharmaceuticalisation and medicalisation in configuring childhood short stature as a site for pharmaceutical intervention. Human growth hormone is considered to have legitimate applications in treating childhood growth hormone deficiency and short stature associated with other recognised conditions. It is also regarded by bioethicists and others as a form of human biomedical enhancement when applied to children with idiopathic or 'normal' short stature. The purpose of this study is not to evaluate whether treatment of idiopathic short stature is enhancement or not, but to evaluate how some applications of hGH in treating short stature have come to be accepted and stabilised as legitimate 'therapies' while others remain contested as 'enhancements'. A comparative, historical approach is employed, drawing on approaches from medical sociology and Science and Technology Studies (STS) to set out a socio-technical history of hGH in the US and UK. Through this history the relative influence and interplay of drivers of pharmaceuticalisation, including industry marketing and networks of drug distribution, and processes of medicalisation will be employed to address this question and simultaneously query the value of enhancement as a sociological concept. PMID:25455477

Morrison, Michael

2014-10-01

11

[Idiopathic short stature. A literature review and update].  

PubMed

Idiopathic short stature (ISS) refers to all clinical conditions involving an alteration of growth (height<-2 SD) of unknown cause, with preservation of proportionality among body segments, with the expectation of adult height < -2 SDS, and in which a diagnosis of constitutional delay of growth and development has been previously ruled out. ISS is an exclusion diagnostic which requires clinical, biochemical, hormonal and molecular studies in order to rule out all known causes of growth retardation and short stature. ISS is a frequent diagnosis among children with short stature. Despite its frequency, there is still controversy on the best diagnostic and therapeutic approach when treating patients with ISS. This consensus document contains updated information on the definition, diagnosis and treatment of ISS, and provides new data and recommendations that have not been addressed in previous documents. PMID:21723798

Carrascosa, A; Fernández Longás, A; Gracia Bouthelier, R; López Siguero, J P; Pombo Arias, M; Yturriaga, R

2011-09-01

12

Hypoglossia-Hypodactyly Syndrome with Short Stature - A Case Report  

PubMed Central

The Oromandibular Limb Hypogenesis Syndromes (OLHS) comprises a spectrum of disorders involving the tongue, mandible, and the limbs and are characterized by hypoplastic mandible, absence of the lower incisors, hypoglossia, digits and limbs abnormalities ranges from syndactyly to amelia. In this report, we report a case of OLHS with growth hormone deficiency as a cause of short stature, which has not been described previously to the best of our knowledge. PMID:24959494

Goyal, Manisha; Singh, Ankur; Singh, Pratiksha

2014-01-01

13

Children with short-limbed short stature in pediatric endocrinological services in Japan.  

PubMed

Short-limbed short stature is a heterogeneous condition that can result from many diseases such as bone disorder, metabolic disease, and multiple malformation syndrome. We conducted a questionnaire survey of council members of the Japanese Society of Pediatric Endocrinology and doctors of affiliated hospitals in 2010 to investigate short-limbed short stature. Among 91 hospitals, responses were obtained from 61 hospitals (67% response rate). This study also examined data of 193 short-limbed short stature patients, among whom FGFR3-related chondrodysplasia such as achondroplasia (n = 109; 56.5%) was found the most frequently. Second to achondroplasia, hypochondroplasia (n = 47; 24.4%) was the most frequently observed. Along with achondroplasia and hypochondroplasia, 31 patients with disorders of 13 other kinds and six undiagnosed patients were identified. Genetic testing for hypochondroplasia was conducted for only 27.7% of all hypochondroplasia patients, although hypochondroplasia is a heterogeneous condition with many causes, only one of which is FGFR3 mutation. We conducted a genetic analysis of 25 patients who had been clinically diagnosed as having "hypochondroplasia". In these patients, other diseases such as acromicric dysplasia, geleophysic dysplasia, and Aarskog-Scott syndrome were included in addition to FGFR3-related hypochondroplasia (n = 10). Clinical diagnosis of each disorder causing short-limbed short stature is difficult. Therefore, not only clinical diagnosis but also genetic diagnosis play an important role in the diagnosis of short-limb short stature. Diagnostic strategies must be created for each disorder. PMID:25244068

Hasegawa, Kosei; Tanaka, Hiroyuki

2014-12-01

14

Use of aromatase inhibitors in children with short stature.  

PubMed

Estrogen has been shown to have an important role in skeletal maturation in both males and females. The use of aromatase inhibitors may provide a means to delay skeletal maturation and increase final height in children with short stature. These medications have been used primarily in women with breast carcinoma and also in children with autonomous estrogen production, such as patients with McCune-Albright Syndrome. Several studies have evaluated the safety and metabolic effects in adults. A few studies in children have evaluated the efficacy and safety of these medications. These studies demonstrate a beneficial effect on bone age advancement and predicted adult height. Other studies have evaluated the effects on bone mineral density, lipid metabolism and adrenal function in children. This review summarizes the studies in the pediatric population and some of the metabolic effects in adults. PMID:16429098

Cernich, Joseph; Jacobson, Jill D; Moore, Wayne V; Popovic, Jadranka

2004-09-01

15

Unresolving Short Stature in a Possible Case of Mucopolysccharidosis  

PubMed Central

We present a metabolic disorder with main complaints of unresolving short stature following prolonged treatment for rickets. ES is a 4-year-old male who first presented to our hospital on self-referral but had been seen previously at another tertiary health facility. The complaints were a swelling on the back and poor growth since 1 year of age with associated skeletal deformities: Chest wall, wrists, knees and ankle joints, which were progressive. Examination revealed a severely stunted child with a large head and caput quadratum, craniofacial disproportion, coarse facial features, saddle-shaped nose, thick lips and bilateral corneal clouding/opacities. He had very poor language development for his age. His diagnoses based on clinical and radiological assessment was in keeping with Hurlers type of mucopolysaccharidoses. We highlight this case to emphasize the need for early consideration of other possible rare differential diagnoses in metabolic conditions in children. PMID:25031905

Ayuk, AC; Obu, HO; Ughasoro, MD; Ibeziako, NS

2014-01-01

16

Towards identification of molecular mechanisms of short stature  

PubMed Central

Growth evaluations are among the most common referrals to pediatric endocrinologists. Although a number of pathologies, both primary endocrine and non-endocrine, can present with short stature, an estimated 80% of evaluations fail to identify a clear etiology, leaving a default designation of idiopathic short stature (ISS). As a group, several features among children with ISS are suggestive of pathophysiology of the GH–IGF-1 axis, including low serum levels of IGF-1 despite normal GH secretion. Candidate gene analysis of rare cases has demonstrated that severe mutations of genes of the GH–IGF-1 axis can present with a profound height phenotype, leading to speculation that a collection of mild mutations or polymorphisms of these genes can explain poor growth in a larger proportion of patients. Recent genome-wide association studies have identified ~180 genomic loci associated with height that together account for approximately 10% of height variation. With only modest representation of the GH–IGF-1 axis, there is little support for the long-held hypothesis that common genetic variants of the hormone pathway provide the molecular mechanism for poor growth in a substantial proportion of individuals. The height-associated common variants are not observed in the anticipated frequency in the shortest individuals, suggesting rare genetic factors with large effect are more plausible in this group. As we advance towards establishing a molecular mechanism for poor growth in a greater percentage of those currently labeled ISS, we highlight two strategies that will likely be offered with increasing frequency: (1) unbiased genetic technologies including array analysis for copy number variation and whole exome/genome sequencing and (2) epigenetic alterations of key genomic loci. Ultimately data from subsets with similar molecular etiologies may emerge that will allow tailored interventions to achieve the best clinical outcome. PMID:24257104

2013-01-01

17

A mouse model for human short-stature syndromes identifies Shox2 as an upstream regulator of Runx2  

E-print Network

of short-stature conditions, including Turner syndrome, Leri­Weill dyschondrosteosis, and Langer mesomelic as a candidate gene for the short-stature phenotype associated with Turner syndrome (1, 2). Whereas the contribuA mouse model for human short-stature syndromes identifies Shox2 as an upstream regulator of Runx2

Cobb, John

18

Causes of short stature identified in children presenting at a tertiary care hospital in Multan Pakistan  

PubMed Central

Objective: To determine the frequency of common causes of short stature in children presenting to the Children’s Hospital & the Institute of Child Health, Multan. Methodology: This cross sectional study was done in Pediatric Endocrinology department, the Children’s Hospital & the Institute of Child Health, Multan, from March to September, 2011. One hundred and sixty nine children with short stature presenting to the outpatient department meeting inclusion criteria were recruited after taking an informed consent. The detailed history, physical examination including anthropometric measurements and relevant investigations were recorded. Causes of short stature (outcome variable) were recorded on a predesigned proforma for final analysis. Results: The common causes of short stature identified were; familial short stature (FSS) 36 cases (21.3%), hypothyroidism 29(17.2%), growth hormone deficiency (GHD) 18(10.7%), insulin dependent diabetes mellitus (IDDM) 16(9.5%) and constitutional delayed growth and maturation (CDGM) 11(6.5%) cases. This was followed by primary malnutrition 8(4.7%), celiac disease 6(3.6%),Turner syndrome 5(3%) cases and unknown syndromes 4(2.4%) followed by other rare causes. Conclusion: Common causes of short stature identified in this study were endocrine diseases followed by normal variant short stature (NVSS), while nonendocrine causes were the least. PMID:24353507

Waqar Rabbani, Muhammad; Imran Khan, Waqas; Bilal Afzal, Ahmad; Rabbani, Waqas

2013-01-01

19

Two girls with short stature, short neck, vertebral anomalies, Sprengel deformity and intellectual disability.  

PubMed

Here, we report two unrelated girls with prenatal onset short stature, short neck, cervical vertebral anomalies, Sprengel deformity, and mild intellectual disability. The association of these features first suggested a syndromic form of Klippel-Feil anomaly. We therefore analyzed the three known disease causing genes and the candidate gene PAX1. However, direct sequencing of GDF6, GDF3, PAX1, and MEOX1 failed to identify any mutation. To our knowledge, the phenotype we report has not been described previously, leading us to speculate that this condition may represent a new syndrome. PMID:25463316

Isidor, Bertrand; David, Albert

2015-01-01

20

Relationship between short stature and obesity in Brazil: a multilevel analysis.  

PubMed

To ascertain the association of BMI and obesity with short stature, a cross-sectional telephone survey was conducted in 2006, using a multilevel approach, adjusting for individual- and city-level measures of socio-economic status. The study probabilistic sample consisted of 54 369 adults (>18 years) living in households with access to telephone lines in each urban area of the twenty-six Brazilian state capitals and federal district. Odds of being currently obese and obese at age 20 years were compared between short stature individuals (5th percentile) and those with normal stature. After controlling for individual- and city-level sociodemographic characteristics and behaviours, high BMI was strongly associated with short stature individuals (P = 0.001). Among short stature women the adjusted OR of being obese was 3.0 (95 % CI 2.2, 4.2) compared with those with stature greater than the 5th percentile. Among men this adjusted OR was 2.0 (95 % CI 1.5, 2.6). When comparisons were made for BMI at age 20 years the OR were even larger (6 for men and 8 for women). Despite the growing body of evidence that environmental factors such as poor food choices and physical inactivity are the main determinants of the worldwide obesity epidemic, the greater difference in BMI and prevalence of obesity in the Brazilian capitals was explained mainly by individual factors. We found a strong association between obesity and short stature after adjustment for diet, physical activity, and many environmental factors. Intra- and inter-generational consequences of undernutrition are an alternative explanation for the regional disparities in obesity in Brazil. PMID:20070916

Sichieri, Rosely; Dos Santos Barbosa, Flavia; Moura, Erly Catarina

2010-05-01

21

Etiologies and early diagnosis of short stature and growth failure in children and adolescents.  

PubMed

Accurate measurement of height and weight using standardized techniques is a fundamental component of pediatric medical visits. Calculation of height velocity over time enables comparison with standardized growth charts to identify potential deviations from normal. Growth deviations may be expressed as SD from the normal population mean for children of comparable age and sex; children with heights >2 SD below the mean are generally classified as short stature. In a child with suspected impaired growth, a detailed evaluation should be conducted to identify the cause. Such an evaluation may include a combination of personal, family, and social history; physical examination; general and perhaps specialized laboratory evaluations; radiologic examinations; genetic testing; and consultation with a pediatric subspecialist, such as a pediatric endocrinologist. Variants of normal growth include familial short stature, constitutional delay of growth and puberty, and small for gestational age with catch-up growth. Pathological causes of abnormal growth include many systemic diseases and their treatments, growth hormone deficiency, and a series of genetic syndromes, including Noonan syndrome and Turner syndrome. Children with short stature in whom no specific cause is identified may be diagnosed with idiopathic short stature. Early identification of abnormal growth patterns and prompt referral to specialist care offer children with growth failure and/or short stature the greatest chance for appropriate diagnosis, treatment, and improved clinical outcomes. PMID:24731744

Rogol, Alan D; Hayden, Gregory F

2014-05-01

22

Managing idiopathic short stature: role of somatropin (rDNA origin) for injection  

PubMed Central

Idiopathic short stature (ISS) is a term that describes short stature in children who do not have growth hormone (GH) deficiency and in whom the etiology of the short stature is not identified. Between 1985 and 2000, more than 40 studies were published regarding GH therapy for ISS. Only 12 of these had data to adult height, of which only 4 were controlled studies. A subsequent placebo-controlled study that followed subjects to adult height indicated that there was a gain of 3.7–7.5 cm in height with GH treatment. In 2003, the US Federal Drug Administration (FDA) approved GH for treatment of short stature. Even before FDA approval, patients with ISS made up about 20% of patients in GH databases, which is largely unchanged since FDA approval. There remains some controversy as to whether GH should be used to treat ISS. This controversy centers on the fact that there has been no definitive demonstration that short stature results in a disadvantage or problems with psychological adjustment, and thus, no demonstration that GH therapy results in improvement in quality of life. PMID:20631818

Frindik, J Paul; Kemp, Stephen F

2010-01-01

23

Short stature in a mother and daughter with terminal deletion of Xp22.3  

SciTech Connect

Short stature in females is often caused by homozygosity for the terminal portion of Xp due to monosomy X or a deletion. We report on a mother and daughter with short stature as sole phenotypic abnormality and deletion of bands Xp22.32-p22.33 demonstrated by classic and molecular cytogenetic analysis. In both individuals, the deleted X chromosome was late replicating. Molecular analysis suggested that the deletion is terminal and the breakpoint was localized between the STS and DXS7470 loci in Xp22.32. Chromosome analysis is often done on females with short stature to exclude Ullrich-Turner syndrome. Small deletions, terminal or interstitial, are easily missed by conventional cytogenetic investigation; thus molecular analyses are useful to detect those cases. 8 refs., 3 figs.

Schwinger, E.; Kirschstein, M.; Konermann, T. [Institut fuer Humangenetik, Hamburg (Germany)] [and others] [Institut fuer Humangenetik, Hamburg (Germany); and others

1996-05-03

24

Triple X Syndrome with Short Stature: Case Report and Literature Review  

PubMed Central

Background Triple X syndrome is a sex chromosomal aneuploidy condition characterized by tall stature, microcephaly, hypertelorism, congenital abnormalities, and motor and language delays. It is mainly derived from maternal nondisjunctional errors during meiosis. To highlight the clinical features and diagnosis of triple X syndrome, we present a rare phenotype of the syndrome. Case Presentation A 5.9 year-old girl was admitted to our hospital because of short stature. Both her height and weight were below the 3rd percentile compared to the normal peers. She was found with mild motor and speech delay. Laboratory investigation showed low level of IGF-1 and zinc, elevated estradiol level and normal result of arginine provocation test. Conclusion Our data suggest that triple X syndrome should also be suspected in patients with short stature, elevated estradiol and low level of IGF-1, even with normal result of arginine provocation test. PMID:23056899

Li, Mingyan; Zou, Chaochun; Zhao, Zhengyan

2012-01-01

25

Selecting short-statured children needing growth hormone testing: Derivation and validation of a clinical decision rule  

Microsoft Academic Search

BACKGROUND: Numerous short-statured children are evaluated for growth hormone (GH) deficiency (GHD). In most patients, GH provocative tests are normal and are thus in retrospect unnecessary. METHODS: A retrospective cohort study was conducted to identify predictors of growth hormone (GH) deficiency (GHD) in children seen for short stature, and to construct a very sensitive and fairly specific predictive tool to

Laëtitia Duché; Christine Trivin; Wassim Chemaitilly; Jean Claude Souberbielle; Gérard Bréart; Raja Brauner; Martin Chalumeau

2008-01-01

26

Spine Shape in Sagittal and Frontal Planes in Short- and Tall-Statured Children Aged 13 Years  

ERIC Educational Resources Information Center

Study aim: To assess spine curvatures, postural categories and scolioses in short and tall children aged 13 years. Material and methods: Short-statured (below Percentile 10) and tall-statured (above Percentile 90) boys (n = 13 and 18, respectively) and girls (n = 10 and 11, respectively) aged 13 years were studied. The following angles of spine…

Lichota, Malgorzata

2008-01-01

27

Orthodontic treatment with growth hormone therapy in a girl of short stature  

Microsoft Academic Search

The purpose of this article is to review the characteristics of craniofacial morphology in children of short stature and the effects of human growth hormone (HGH) therapy on the craniofacial complex. Changes in body height, facial growth, and dental maturity of a 9-year-old girl who received HGH therapy during orthodontic treatment were observed. Orthodontists need to understand the skeletal characteristics

Chung-Ju Hwang; Jung-Yul Cha

2004-01-01

28

The etiology of short stature affects the clinical outcome of lower limb lengthening using external fixation  

PubMed Central

Background and purpose Distraction osteogenesis (DO) has been used to gain height in short statured individuals. However, there have been no studies comparing the clinical outcome of limb lengthening based on the etiology of the short stature. We assessed whether different underlying diagnoses are associated with varied clinical outcomes in these patients. Methods We performed a systematic review of the literature pertaining to lower limb lengthening using external fixation for short stature. Clinical outcomes including amount of lengthening, healing index (HI), and complications based on the underlying diagnosis for the short stature were documented. Results 18 clinical studies were included, with 547 patients who underwent 1,581 lower limb segment lengthening procedures. Mean follow-up was 4.3 years. The average age at lengthening was less for individuals with achondroplasia/hypochondroplasia (A/H) (14.5 years) than for those with Turner’s syndrome (TS) (18.2 years) or with constitutional short stature (CSS) (21.7 years). Mean height gained was greater in patients with A/H (9.5 cm) than in those with TS (7.7 cm) or CSS (6.1 cm) group. The HI was better in A/H (30.8 days/cm) and CSS (32 days/cm) than in TS (45.1 days/cm). The reported complication rate per segment was lower for A/H (0.68) and TS (0.71) than for CSS (1.06). Interpretation Patients with A/H tolerated larger amounts of lengthening with fewer complications than those with other diagnoses. PMID:24650027

2014-01-01

29

S O N G D E T N I L L A S I T H A N U K R O H SHOX and Short Stature  

E-print Network

stature Syndromic short stature Retrieved from http://en.wikipedia.org/wiki/Dwarfism on 05/05/10 Turner http://en.wikipedia.org/wiki/Dwarfism on 05/05/10 Turner syndrome LĂ©ri-Weill syndrome 2%-15% 100% 50/05/10 -2 standard deviations of national height standard #12;Types of Short Stature Non-syndromic short

Skop, Ahna

30

Osteopathia striata, short stature, and characteristic facies: a previously unknown skeletal dysplasia  

Microsoft Academic Search

We report two sporadic cases of a hitherto undescribed skeletal dysplasia with short stature and characteristic facies. The\\u000a present patients, a 6-year-old girl and a 15-year-old boy, were almost equally affected. Craniofacial anomalies included a\\u000a sloping forehead, bitemporal bulging, sparse medial eyebrows, a prominent nasal bridge, hypertelorism, proptosis, a beaked\\u000a nose, hypoplastic alae nasi and a pointed chin. Shallow orbits,

G. Nishimura; T. Okada; K. Tachibana; M. Adachi; M. Masuno; K. Imaizumi; N. Aida

1997-01-01

31

MCM9 Mutations Are Associated with Ovarian Failure, Short Stature, and Chromosomal Instability.  

PubMed

Premature ovarian failure (POF) is genetically heterogeneous and manifests as hypergonadotropic hypogonadism either as part of a syndrome or in isolation. We studied two unrelated consanguineous families with daughters exhibiting primary amenorrhea, short stature, and a 46,XX karyotype. A combination of SNP arrays, comparative genomic hybridization arrays, and whole-exome sequencing analyses identified homozygous pathogenic variants in MCM9, a gene implicated in homologous recombination and repair of double-stranded DNA breaks. In one family, the MCM9 c.1732+2T>C variant alters a splice donor site, resulting in abnormal alternative splicing and truncated forms of MCM9 that are unable to be recruited to sites of DNA damage. In the second family, MCM9 c.394C>T (p.Arg132(?)) results in a predicted loss of functional MCM9. Repair of chromosome breaks was impaired in lymphocytes from affected, but not unaffected, females in both families, consistent with MCM9 function in homologous recombination. Autosomal-recessive variants in MCM9 cause a genomic-instability syndrome associated with hypergonadotropic hypogonadism and short stature. Preferential sensitivity of germline meiosis to MCM9 functional deficiency and compromised DNA repair in the somatic component most likely account for the ovarian failure and short stature. PMID:25480036

Wood-Trageser, Michelle A; Gurbuz, Fatih; Yatsenko, Svetlana A; Jeffries, Elizabeth P; Kotan, L Damla; Surti, Urvashi; Ketterer, Deborah M; Matic, Jelena; Chipkin, Jacqueline; Jiang, Huaiyang; Trakselis, Michael A; Topaloglu, A Kemal; Rajkovic, Aleksandar

2014-12-01

32

Efficacy of Short-Term Growth Hormone Treatment in Prepubertal Children with Idiopathic Short Stature  

PubMed Central

Purpose It has been reported that daily recombinant human growth hormone (GH) treatment showed beneficial effects on growth in prepubertal children with idiopathic short stature (ISS). The present study aimed to validate the GH (Eutropin®) effect on growth promotion and safety after short-term GH treatment. Materials and Methods This study was an open-label, multicenter, interventional study conducted at nine university hospitals in Korea between 2008 and 2009. Thirty six prepubertal children with ISS were enrolled in this study to receive 6-month GH treatment. Yearly growth rate, height standard deviation score (SDS), and adverse events were investigated during treatment. Results After 26 weeks of GH treatment, the height velocity significantly increased by 6.36±3.36 cm/year (p<0.001). The lower end of one-sided 95% confidence interval was 5.22 cm/year, far greater than the predefined effect size. The gain in height SDS at week 26 was 0.57±0.27 (p<0.0001). Bone age significantly increased after GH treatment, however, bone maturation rate (bone age for chronological age) showed limited advancement. This 26-week GH treatment was effective in increasing serum levels of insulin-like growth factor (IGF)-I and IGF binding protein (IGFBP)-3 from baseline (p<0.0001). Eutropin was well tolerated and there were no withdrawals due to adverse events. No clinically significant changes in laboratory values were observed. Conclusion This 6-month daily GH treatment in children with ISS demonstrated increased height velocity, improved height SDS, and increased IGF-I and IGFBP-3 levels with a favorable safety profile. PMID:24339287

Kim, Ho-Seong; Yang, Sei Won; Yoo, Han-Wook; Suh, Byung Kyu; Ko, Cheol Woo; Chung, Woo Yeong; Lee, Kee Hyoung; Hwang, Jin Soon; Ji, Hyi-Jeong; Ahn, Hyunji

2014-01-01

33

Growth failure starts from early infancy in children with short stature at age 6  

PubMed Central

Abstract We compared the growth of 183 children with short stature (? 2SD) and 73 children of normal height at age six who were visiting the Tanaka Growth Clinic. We classified these short children as suffering from either idiopathic short stature (ISS, n = 119), GH deficiency (GHD, n = 33) or small-for-gestational-age short stature (SGASS, n = 31) on the basis of subsequent test results and other factors. We also conducted a retrospective study of changes in their height, wt and nutritional intake over time. The mean changes in height SD score from birth to 6 yr were –0.24 SD in normal height children with a normal birth length and +2.27 SD in normal height children with a low birth length. In short children, these changes were –1.93 SD for children with ISS, –2.41 SD for those with GHD and +0.58 for those with SGASS. The mean changes from birth to 6 mo were –0.84 SD, ?1.03 SD and +0.38 SD in children with ISS, GHD and SGASS, respectively. The mean change in height SD score from birth to age 1 yr was –1.07 SD, –1.44 SD and +0.35 SD, respectively. The decrease in height SD score from birth to 6 mo accounted for 43.5% of the decrease in height SD score from birth to 6 yr in children with ISS and it accounted for 42.6% of the decrease in children with GHD. Only 19% of short children bottle-fed well, and 53% fed poorly, as opposed to 56% and 16% of normal height children who fed well and poorly, respectively. Post weaning, only 22% of short children ate well, and 56% fed poorly, as opposed to 53% and 17% of normal height children who fed well and poorly, respectively. These findings demonstrated that growth failure started from early infancy in ISS and GHD children. It was suggested that poor nutritional intake in infancy and early childhood was a partial cause of short stature at age 6.

Noda, Masahiro; Sato, Naoko; Tanaka, Toshiaki

2015-01-01

34

Rare Copy Number Variants Are a Common Cause of Short Stature  

PubMed Central

Human growth has an estimated heritability of about 80%–90%. Nevertheless, the underlying cause of shortness of stature remains unknown in the majority of individuals. Genome-wide association studies (GWAS) showed that both common single nucleotide polymorphisms and copy number variants (CNVs) contribute to height variation under a polygenic model, although explaining only a small fraction of overall genetic variability in the general population. Under the hypothesis that severe forms of growth retardation might also be caused by major gene effects, we searched for rare CNVs in 200 families, 92 sporadic and 108 familial, with idiopathic short stature compared to 820 control individuals. Although similar in number, patients had overall significantly larger CNVs (p-value<1×10?7). In a gene-based analysis of all non-polymorphic CNVs>50 kb for gene function, tissue expression, and murine knock-out phenotypes, we identified 10 duplications and 10 deletions ranging in size from 109 kb to 14 Mb, of which 7 were de novo (p<0.03) and 13 inherited from the likewise affected parent but absent in controls. Patients with these likely disease causing 20 CNVs were smaller than the remaining group (p<0.01). Eleven (55%) of these CNVs either overlapped with known microaberration syndromes associated with short stature or contained GWAS loci for height. Haploinsufficiency (HI) score and further expression profiling suggested dosage sensitivity of major growth-related genes at these loci. Overall 10% of patients carried a disease-causing CNV indicating that, like in neurodevelopmental disorders, rare CNVs are a frequent cause of severe growth retardation. PMID:23516380

Zahnleiter, Diana; Uebe, Steffen; Ekici, Arif B.; Hoyer, Juliane; Wiesener, Antje; Wieczorek, Dagmar; Kunstmann, Erdmute; Reis, André; Doerr, Helmuth-Guenther; Rauch, Anita; Thiel, Christian T.

2013-01-01

35

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation.  

PubMed

Disproportionate short stature refers to a heterogeneous group of hereditary disorders that are classified according to their mode of inheritance, clinical skeletal and nonskeletal manifestations, and radiological characteristics. In the present study, we report on an autosomal-recessive osteocutaneous disorder that we termed SOFT (short stature, onychodysplasia, facial dysmorphism, and hypotrichosis) syndrome. We employed homozygosity mapping to locate the disease-causing mutation to region 3p21.1-3p21.31. Using whole-exome-sequencing analysis complemented with Sanger direct sequencing of poorly covered regions, we identified a homozygous point mutation (c.512T>C [p.Leu171Pro]) in POC1A (centriolar protein homolog A). This mutation was found to cosegregate with the disease phenotype in two families. The p.Leu171Pro substitution affects a highly conserved amino acid residue and is predicted to interfere with protein function. Poc1, a POC1A ortholog, was previously found to have a role in centrosome stability in unicellular organisms. Accordingly, although centrosome structure was preserved, the number of centrosomes and their distribution were abnormal in affected cells. In addition, the Golgi apparatus presented a dispersed morphology, cholera-toxin trafficking from the plasma membrane to the Golgi was aberrant, and large vesicles accumulated in the cytosol. Collectively, our data underscore the importance of POC1A for proper bone, hair, and nail formation and highlight the importance of normal centrosomes in Golgi assembly and trafficking from the plasma membrane to the Golgi apparatus. PMID:22840363

Sarig, Ofer; Nahum, Sagi; Rapaport, Debora; Ishida-Yamamoto, Akemi; Fuchs-Telem, Dana; Qiaoli, Li; Cohen-Katsenelson, Ksenya; Spiegel, Ronen; Nousbeck, Janna; Israeli, Shirli; Borochowitz, Zvi-Uri; Padalon-Brauch, Gilly; Uitto, Jouni; Horowitz, Mia; Shalev, Stavit; Sprecher, Eli

2012-08-10

36

Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome Is Caused by a POC1A Mutation  

PubMed Central

Disproportionate short stature refers to a heterogeneous group of hereditary disorders that are classified according to their mode of inheritance, clinical skeletal and nonskeletal manifestations, and radiological characteristics. In the present study, we report on an autosomal-recessive osteocutaneous disorder that we termed SOFT (short stature, onychodysplasia, facial dysmorphism, and hypotrichosis) syndrome. We employed homozygosity mapping to locate the disease-causing mutation to region 3p21.1-3p21.31. Using whole-exome-sequencing analysis complemented with Sanger direct sequencing of poorly covered regions, we identified a homozygous point mutation (c.512T>C [p.Leu171Pro]) in POC1A (centriolar protein homolog A). This mutation was found to cosegregate with the disease phenotype in two families. The p.Leu171Pro substitution affects a highly conserved amino acid residue and is predicted to interfere with protein function. Poc1, a POC1A ortholog, was previously found to have a role in centrosome stability in unicellular organisms. Accordingly, although centrosome structure was preserved, the number of centrosomes and their distribution were abnormal in affected cells. In addition, the Golgi apparatus presented a dispersed morphology, cholera-toxin trafficking from the plasma membrane to the Golgi was aberrant, and large vesicles accumulated in the cytosol. Collectively, our data underscore the importance of POC1A for proper bone, hair, and nail formation and highlight the importance of normal centrosomes in Golgi assembly and trafficking from the plasma membrane to the Golgi apparatus. PMID:22840363

Sarig, Ofer; Nahum, Sagi; Rapaport, Debora; Ishida-Yamamoto, Akemi; Fuchs-Telem, Dana; Qiaoli, Li; Cohen-Katsenelson, Ksenya; Spiegel, Ronen; Nousbeck, Janna; Israeli, Shirli; Borochowitz, Zvi-Uri; Padalon-Brauch, Gilly; Uitto, Jouni; Horowitz, Mia; Shalev, Stavit; Sprecher, Eli

2012-01-01

37

The variability of responses to growth hormone therapy in children with short stature  

PubMed Central

Growth hormone (GH) is widely prescribed for children with short stature across a range of growth disorders. We describe the variability of responses seen in conditions approved for GH therapy. Although responses in different growth disorders are satisfactory, evidence is increasing for an unacceptably high rate of poor or unsatisfactory response (i.e., not leading to significant catch-up growth) in terms of change in height standard deviation score and height velocity. Consequently, there is a need to define a poor response and to prevent or correct it by optimizing treatment regimens. This review discusses the optimal investigation of the child who is a candidate for GH therapy so that a diagnosis-based guide to therapy and dosage can be made. The relevant parameters in the evaluation of growth response are described together with the definitions of a poor response. PMID:23565373

Savage, Martin O.; Bang, Peter

2012-01-01

38

The role of GHR and IGF1 genes in the genetic determination of African pygmies' short stature  

PubMed Central

African pygmies are at the lower extreme of human variation in adult stature and many evolutionary hypotheses have been proposed to explain this phenotype. We showed in a recent study that the difference in average stature of about 10?cm observed between contemporary pygmies and neighboring non-pygmies has a genetic component. Nevertheless, the genetic basis of African pygmies' short stature remains unknown. Using a candidate-gene approach, we show that intronic polymorphisms in GH receptor (GHR) and insulin-like growth factor 1 (IGF1) genes present outlying values of the genetic distance between Baka pygmies and their non-pygmy Nzimé neighbors. We further show that GHR and IGF1 genes have experienced divergent natural selection pressures between pygmies and non-pygmies throughout evolution. In addition, these SNPs are associated with stature in a sample composed of 60 pygmies and 30 non-pygmies and this association remains significant when correcting for population structure for the GHR locus. We conclude that the GHR and IGF1 genes may have a role in African pygmies' short stature. The use of phenotypically contrasted populations is a promising strategy to identify new variants associated with complex traits in humans. PMID:23047741

Becker, Noémie SA; Verdu, Paul; Georges, Myriam; Duquesnoy, Philippe; Froment, Alain; Amselem, Serge; Le Bouc, Yves; Heyer, Evelyne

2013-01-01

39

Observed and Predicted Total Pubertal Growth during Treatment with Growth Hormone in Adolescents with Idiopathic Growth Hormone Deficiency, Turner Syndrome, Short Stature, Born Small for Gestational Age and Idiopathic Short Stature: KIGS Analysis and Review  

Microsoft Academic Search

Background\\/Aims: The aim was to describe the factors determining total pubertal growth (TPG) in adolescents with growth hormone deficiency (GHD), Turner syndrome (TS), who were small for gestational age (SGA) or had idiopathic short stature (ISS). Methods: The patients were documented within KIGS (Pfizer International Growth Database). TPG was defined as growth from puberty onset – spontaneous (>B1 or testes

Michael B. Ranke; Anders Lindberg

2011-01-01

40

Short stature, obesity, and growth hormone deficiency in pseudohypoparathyroidism type 1a.  

PubMed

Albright hereditary osteodystrophy (AHO) is a genetic disorder caused by heterozygous inactivating mutations in GNAS, the gene that encodes the alpha-chain of Gs (G alpha s). This syndrome is associated with short stature, obesity, brachydactyly, and subcutaneous ossifications. Patients with GNAS mutations on maternally-inherited alleles are resistant to multiple G-protein-coupled hormones, including parathyroid hormone (PTH), thyroid-stimulating hormone (TSH), luteinizing hormone/follicle-stimulating hormone (LH/FSH), and glucagon. This variant of AHO, termed pseudohypoparathyroidism (PHP) type 1a, is due to tissue-specific paternal imprinting of G alpha s. We investigated whether patients with PHP type 1a exhibited evidence of resistance to growth hormone releasing hormone (GHRH) (1), another hormone requiring G alpha s function. In addition, G alpha s transcripts are imprinted in the pituitary somatotrophs responsible for growth hormone (GH) secretion which could thereby influence GHRH-dependent stimulation of somatotrophs. We therefore hypothesized that patients with PHP type 1a may be GH deficient which could contribute to the obesity and short stature in this condition. We found that GH deficiency is common in PHP type 1a (69%) with a prevalence that is much greater than in the general population (0.03%). We propose that GH status be evaluated in all patients with this condition. Treatment with recombinant GH could lead to improvements in height in children, as well as other physical (eg, obesity, hyperlipidemia, osteoporosis, reduced renal function) and psychological (fatigue and diminished sense of well-being) parameters in GH-deficient PHP type 1a patients of all ages. PMID:16675931

Germain-Lee, Emily L

2006-04-01

41

Health status of adults with Short Stature: A comparison with the normal population and one well-known chronic disease (Rheumatoid Arthritis)  

Microsoft Academic Search

BACKGROUND: To examine the subjective health status of adults with short stature (ShSt) and compare with the general population (GP) and one well-known chronic disease, rheumatoid artritis (RA). In addition, to explore the association between age, gender, height, educational level and different aspects of health status of adults with short stature. METHODS: A questionnaire was mailed to 72 subjects with

Heidi Johansen; Inger-Lise Andresen; Eva E Naess; Kare Birger Hagen

2007-01-01

42

The first Korean case of lysinuric protein intolerance: presented with short stature and increased somnolence.  

PubMed

Lysinuric protein intolerance (LPI) is a rare inherited metabolic disease, caused by defective transport of dibasic amino acids. Failure to thrive, hepatosplenomegaly, hematological abnormalities, and hyperammonemic crisis are major clinical features. However, there has been no reported Korean patient with LPI as of yet. We recently encountered a 3.7-yr-old Korean girl with LPI and the diagnosis was confirmed by amino acid analyses and the SLC7A7 gene analysis. Her initial chief complaint was short stature below the 3rd percentile and increased somnolence for several months. Hepatosplenomegaly was noted, as were anemia, leukopenia, elevated levels of ferritin and lactate dehydrogenase, and hyperammonemia. Lysine, arginine, and ornithine levels were low in plasma and high in urine. The patient was a homozygote with a splicing site mutation of IVS4+1G > A in the SLC7A7. With the implementation of a low protein diet, sodium benzoate, citrulline and L-carnitine supplementation, anemia, hyperferritinemia, and hyperammonemia were improved, and normal growth velocity was observed. PMID:22876067

Ko, Jung Min; Shin, Choong Ho; Yang, Sei Won; Seong, Moon Woo; Park, Sung Sup; Song, Junghan

2012-08-01

43

Strategies for maximizing growth in puberty in children with short stature.  

PubMed

The approach to the child with growth retardation who is in puberty remains an important clinical challenge. The use of high-dose growth hormone (GH), suppression of puberty with GnRH analogs in combination with GH, and the use of selective inhibitors of the aromatase enzyme with aromatase inhibitors (also in combination with GH) are all therapeutic choices that have been studied. Aromatase blockade effectively blocks estrogen production in males with a reciprocal increase in testosterone, and a new generation of aromatase inhibitors, including anastrozole, letrozole and exemestane, is under investigation in adolescent subjects with severe growth retardation. This class of drugs, if judiciously used for a window of time, offers promise as an adjunct treatment of growth delay in pubertal patients with GH deficiency, idiopathic short stature, testotoxicosis, and other disorders of growth. These evolving uses of aromatase inhibitors, however, represent off-label use of the product, and definitive data on their efficacy are not available for each of the conditions mentioned. Safety issues regarding bone health also require further study. PMID:19717007

Mauras, Nelly

2009-09-01

44

Strategies for maximizing growth in puberty in children with short stature.  

PubMed

The approach to the child with growth retardation who is in puberty remains an important clinical challenge. The use of high-dose growth hormone (GH), suppression of puberty with GnRH analogs in combination with GH, and the use of selective inhibitors of the aromatase enzyme with aromatase inhibitors (also in combination with GH) are all therapeutic choices that have been studied. Aromatase blockade effectively blocks estrogen production in males with a reciprocal increase in testosterone, and a new generation of aromatase inhibitors, including anastrozole, letrozole and exemestane, is under investigation in adolescent subjects with severe growth retardation. This class of drugs, if judiciously used for a window of time, offers promise as an adjunct treatment of growth delay in pubertal patients with GH deficiency, idiopathic short stature, testotoxicosis, and other disorders of growth. These evolving uses of aromatase inhibitors, however, represent off-label use of the product, and definitive data on their efficacy are not available for each of the conditions mentioned. Safety issues regarding bone health also require further study. PMID:21981954

Mauras, Nelly

2011-10-01

45

Comparison of Growth Hormone Treatment in Patients with Idiopathic Short Stature and Idiopathic Growth Hormone Deficiency  

PubMed Central

After recombinant human growth hormone (rhGH) was introduced in the treatment of patients with growth hormone deficiency (GHD) and idiopathic short stature (ISS), many studies have addressed the effect of GH treatment and changes in the height standard deviation score (SDS) after GH treatment. However, few studies comparing the effect of GH in Korean patients with idiopathic GHD and ISS have been designed. Therefore, this study focused on the difference in effect of GH treatment between the two groups. We retrospectively reviewed the height SDS of 34 patients with idiopathic GHD and 12 patients with ISS. The mean ages of the patients with idiopathic GHD and ISS were 9.84±2.09 and 10.72±1.48 years, respectively. All patients were treated with GH for 1 year and body parameters were recorded before and after the GH treatment. Change in height SDS in patients with idiopathic GHD was significantly higher than that in patients with ISS (0.62±0.33 vs. 0.40±0.27, p=0.03). However, body mass index, insulin-like growth factor-1, and insulin-like growth factor binding protein-3 were not significantly different between the two groups after GH treatment. These results suggest that GH treatment has a more powerful effect on increasing height SDS in patients with idiopathic GHD than in patients with ISS. PMID:25229018

Kim, Seul Ah; Choe, Yu Ri; Yang, Eun Mi

2014-01-01

46

Evaluation of Quality of Life in Children with GH Deficiency and Idiopathic Short Stature Using the Child Behavior Checklist  

PubMed Central

The quality of life (QoL) of short children is an important issue that has been studied in Western countries, but not fully in Japan. We assessed the psychosocial profiles of Japanese children with short stature using the Japanese version of the Child Behavior Checklist (CBCL). A higher score in the CBCL means a lower QoL. A total of 116 children with idiopathic short stature (ISS) and 127 children with GH deficiency (GHD), aged 4 to 15 yr, were enrolled in the study. The total CBCL scores of the children in the GHD/ISS group were found to be higher than those of the normal children group. The QoL subscales for social problems and attention problems of the young (4–11 yr) children in the GHD/ISS group were significantly higher than those of the group of children of normal height. The proportion of children with GHD/ISS classified into the borderline/abnormal range was significantly higher than that of normal children. Children with ISS tended to have higher total scores and more subscale problems, and a greater proportion of these children was classified in the borderline/abnormal range than the children with GHD, although the difference was not significant. These results suggest that QoL is impaired in Japanese children due to short stature. PMID:24790375

Tanaka, Toshiaki; Tai, Shigeru; Morisaki, Yoji; Tachibana, Katsuhiko; Kambayashi, Yasuko; Chihara, Kazuo; Seino, Yoshiki; Fujieda, Kenji

2009-01-01

47

Endocrinological anomalies in a patient with 12q14 microdeletion syndrome. Completing phenotype of this exceptional short stature condition.  

PubMed

12q14 microdeletion syndrome consists of the association of short stature, mental retardation, and osteopoikilosis. Since its first description in 2007, there have been <20 cases reported and each case presented variable phenotypes. We present a girl with 12q14 microdeletion that showed mental retardation and short stature but without osteopoikilosis. She also exhibited precocious puberty and growth hormone deficiency and required treatment for improving final height. This report adds further to the knowledge of the endocrinological anomalies in 12q14 microdeletion syndrome. It is important to perform growth hormone level measurements and pubertal signs to follow-up with these patients and avoid the consequential adult height worsening. PMID:24468604

Nso-Roca, Ana Pilar; Marco, Francisco Carratalá; Ricote, Jose Mestre; Ruiz, Mercedes Juste

2014-05-01

48

Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14  

PubMed Central

This report presents the detection of a heterozygous deletion at chromosome 12q14 in three unrelated patients with a similar phenotype consisting of mild mental retardation, failure to thrive in infancy, proportionate short stature and osteopoikilosis as the most characteristic features. In each case, this interstitial deletion was found using molecular karyotyping. The deletion occurred as a de novo event and varied between 3.44 and 6?megabases (Mb) in size with a 3.44?Mb common deleted region. The deleted interval was not flanked by low?copy repeats or segmental duplications. It contains 13 RefSeq genes, including LEMD3, which was previously shown to be the causal gene for osteopoikilosis. The observation of osteopoikilosis lesions should facilitate recognition of this new microdeletion syndrome among children with failure to thrive, short stature and learning disabilities. PMID:17220210

Menten, Björn; Buysse, Karen; Zahir, Farah; Hellemans, Jan; Hamilton, Sara J; Costa, Teresa; Fagerstrom, Carrie; Anadiotis, George; Kingsbury, Daniel; McGillivray, Barbara C; Marra, Marco A; Friedman, Jan M; Speleman, Frank; Mortier, Geert

2007-01-01

49

Clinical and Radiological Characteristics of 22 Children with SHOX Anomalies and Familial Short Stature Suggestive of Léri-Weill Dyschondrosteosis  

Microsoft Academic Search

Aims: To describe genetic, clinical, anthropometric and radiological characteristics of 22 children with SHOX gene anomalies and familial short stature suggestive of Léri-Weill dyschondrosteosis. Methods: Monocentric retrospective observational study. Results: Six children (27%) presented with deletions located downstream of SHOX (mean height –1.4 ± 0.9 SDS) and 16 (68%) with either deletions encompassing SHOX, intragenic deletions or point mutations of

Anne-Sophie Salmon-Musial; Myriam Rosilio; Michel David; Céline Huber; Emmanuel Pichot; Valérie Cormier-Daire; Marc Nicolino

2011-01-01

50

Molecular Study of a Hoxa2 Gain-of-Function in Chondrogenesis: A Model of Idiopathic Proportionate Short Stature  

PubMed Central

In a previous study using transgenic mice ectopically expressing Hoxa2 during chondrogenesis, we associated the animal phenotype to human idiopathic proportionate short stature. Our analysis showed that this overall size reduction was correlated with a negative influence of Hoxa2 at the first step of endochondral ossification. However, the molecular pathways leading to such phenotype are still unknown. Using protein immunodetection and histological techniques comparing transgenic mice to controls, we show here that the persistent expression of Hoxa2 in chondrogenic territories provokes a general down-regulation of the main factors controlling the differentiation cascade, such as Bapx1, Bmp7, Bmpr1a, Ihh, Msx1, Pax9, Sox6, Sox9 and Wnt5a. These data confirm the impairment of chondrogenic differentiation by Hoxa2 overexpression. They also show a selective effect of Hoxa2 on endochondral ossification processes since Gdf5 and Gdf10, and Bmp4 or PthrP were up-regulated and unmodified, respectively. Since Hoxa2 deregulation in mice induces a proportionate short stature phenotype mimicking human idiopathic conditions, our results give an insight into understanding proportionate short stature pathogenesis by highlighting molecular factors whose combined deregulation may be involved in such a disease. PMID:24129174

Deprez, Pierre M. L.; Nichane, Miloud G.; Lengelé, Benoît G.; Rezsöhazy, René; Nyssen-Behets, Catherine

2013-01-01

51

Therapeutic Efficacy and Safety of GH in Japanese Children with Down Syndrome Short Stature Accompanied by GH Deficiency.  

PubMed

In this study, we investigated the effects of GH treatment in children with Down syndrome who had been diagnosed with GH deficiency (GHD). A total of 20 subjects were investigated in this study. Fourteen Down syndrome children (5 boys and 9 girls) with short stature due to GHD were treated with GH at Okayama Red Cross General Hospital, and 6 Down syndrome children (4 boys and 2 girls) with short stature due to GHD were registered in the Pfizer International Growth Database (KIGS). Height SD score (SDS) increased throughout the three-year GH treatment period. The overall mean height SDS increased from -3.5 at baseline to -2.5 after 3 yr of treatment. The mean change in height SDS during these 3 yr was 1.1. In addition, height assessment of SD score based on Down syndrome-specific growth data in the Japanese population revealed that the height SDS (Down syndrome) also increased across the 3-yr GH treatment period. The mean change in height SDS (Down syndrome) during these three years was 1.3. GH therapy was effective for Down syndrome short stature accompanied by GHD, and no new safety concerns were found in this study. PMID:24170963

Meguri, Kyoko; Inoue, Masaru; Narahara, Koji; Sato, Takahiro; Takata, Ami; Ohki, Nobuhiko; Ozono, Keiichi

2013-10-01

52

Therapeutic Efficacy and Safety of GH in Japanese Children with Down Syndrome Short Stature Accompanied by GH Deficiency  

PubMed Central

In this study, we investigated the effects of GH treatment in children with Down syndrome who had been diagnosed with GH deficiency (GHD). A total of 20 subjects were investigated in this study. Fourteen Down syndrome children (5 boys and 9 girls) with short stature due to GHD were treated with GH at Okayama Red Cross General Hospital, and 6 Down syndrome children (4 boys and 2 girls) with short stature due to GHD were registered in the Pfizer International Growth Database (KIGS). Height SD score (SDS) increased throughout the three-year GH treatment period. The overall mean height SDS increased from –3.5 at baseline to –2.5 after 3 yr of treatment. The mean change in height SDS during these 3 yr was 1.1. In addition, height assessment of SD score based on Down syndrome-specific growth data in the Japanese population revealed that the height SDS (Down syndrome) also increased across the 3-yr GH treatment period. The mean change in height SDS (Down syndrome) during these three years was 1.3. GH therapy was effective for Down syndrome short stature accompanied by GHD, and no new safety concerns were found in this study. PMID:24170963

Meguri, Kyoko; Inoue, Masaru; Narahara, Koji; Sato, Takahiro; Takata, Ami; Ohki, Nobuhiko; Ozono, Keiichi

2013-01-01

53

A proteomic approach identified growth hormone-dependent nutrition markers in children with idiopathic short stature  

PubMed Central

Background The broad range in growth observed in short prepubertal children receiving the same growth hormone (GH) dose is due to individual variation in GH responsiveness. This study used a pharmaco-proteomic approach in order to identify novel biomarkers that discriminate between short non-GH-deficient (GHD) children who show a good or poor growth response to GH treatment. A group of 32 prepubertal children with idiopathic short stature (ISS) were included in the study. Children were classified on the basis of their first year growth velocity as either good (high responders, n = 13; range, 0.9–1.3 standard deviation score (SDS) or poor (low responders, n = 19; range, 0.3–0.5 SDS) responders to GH treatment (33 ?g/kg daily). Serum protein expression profiles before, and after 1 year of GH treatment, were analyzed on a weak cationic exchange array (CM10) using surface-enhanced laser desorption/ionisation time-of-flight mass spectrometry (SELDI-TOF-MS). Results Changes in the intensity of two protein peaks (13.788 kDa and 17.139 kD) during the study period allowed the correct classification of 82% of children as high and low responders, respectively. The 13.788 kD peak, transthyretin, decreased in the high-responder group and increased in the low-responder group during 1 year of GH treatment, whereas the 17.139 kDa peak, apolipoprotein A-II (Apo A-II) decreased in the high-responder group and remained unchanged in the low-responder group. These peaks were identified by the consistency of peak pattern in the spectra, serum depletion experiments using specific antibodies and mass spectrometry. Conclusion Our results suggest that transthyretin and apolipoprotein A-II may have a role in GH sensitivity and could be used as markers to predict which short prepubertal children with ISS will show a good or poor response to GH treatment. PMID:19077222

Hellgren, Gunnel; Andersson, Björn; Nierop, Andreas FM; Dahlgren, Jovanna; Hochberg, Ze'ev; Albertsson-Wikland, Kerstin

2008-01-01

54

Vertebral morphology in aromatase inhibitor-treated males with idiopathic short stature or constitutional delay of puberty.  

PubMed

Aromatase inhibitors (AIs), blockers of estrogen biosynthesis, delay bone maturation and therefore are used increasingly to promote growth in children and adolescents with growth disorders. The effects of treatment on skeletal health are largely unknown. Since estrogen deficiency is associated with various detrimental skeletal effects, we evaluated in this cross-sectional posttreatment study vertebral body morphology, dimensions and endplates, and intervertebral disks by the use of magnetic resonance imaging (MRI) in two cohorts of males previously treated with the AI letrozole or placebo. Males with idiopathic short stature received treatment with letrozole or placebo for 2 years during prepuberty or early puberty; males with constitutional delay of puberty received letrozole or placebo in combination with low-dose testosterone for 1 year during early or midpuberty. In males with idiopathic short stature, mild vertebral body deformities were found in 5 of 11 (45%) letrozole-treated subjects, whereas in the placebo group no deformities were detected (p = .01). In the cohort of males with constitutional delay of puberty, a high prevalence of endplate and intervertebral disk abnormalities was observed in both the letrozole- and the placebo-treated groups. We conclude that AI therapy during prepuberty or early puberty may predispose to vertebral deformities, which probably reflect impaired vertebral body growth rather than impaired bone quality and compression fractures. If AIs are used in growth indications, follow-up of vertebral morphology is indicated. PMID:20200972

Hero, Matti; Toiviainen-Salo, Sanna; Wickman, Sanna; Mäkitie, Outi; Dunkel, Leo

2010-07-01

55

Highland Guatemalan women are extremely short of stature, and no lactation duration effects on body composition are observed in a cross-sectional survey.  

PubMed

Early linear growth in Guatemala has historically been compromised, resulting in adults of short stature. We hypothesized that the rate of short stature among mothers in the Western Highlands would have tracked from their own childhood when younger than 5 years, and that maternal weight declines progressively from delivery through lactation. Maternal weight and height were collected in 542 lactating mothers of infant and toddlers, ranging in age from 15 to 48 years, with subsequent classification of mothers for short stature (relative to the 1977 World Health Organization/National Center for Health Statistics growth curves) and for underweight (body mass index [BMI], <18.5 kg/m˛), overweight (BMI, 25-30 kg/m˛), or obesity (BMI, ?30 kg/m˛). The mean stature for the sample of adult women was 149.3 ± 5.9 cm, with a median of 149.0 cm. Women classified of Mayan descent were significantly (P < .001) shorter (147.0 ± 5.1 cm) than others (150.5 ± 6.0 cm). In terms of height percentiles for the age-specific female reference, 410 (76%) of mothers were below the fifth percentile and only 8 (1.5%) reached the median. Respective partition for underweight, normal weight, overweight, and obesity was as follows: 5%, 50%, 36%, and 9%. Variation in BMI with respect to the age of the offspring as the indicator of the duration of lactation was not significant, by analysis of variance or correlation analysis. Insofar as short stature is a risk factor for a series of adverse health consequences, including obesity and obstructed labor at childbirth, among others, it is time to direct public health attention toward resolving the causal factors for short stature in Guatemala. PMID:23399658

Oyesiku, Linda; Solomons, Noel W; Doak, Colleen M; Vossenaar, Marieke

2013-02-01

56

Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion.  

PubMed

Deletions of the long arm of chromosome 4 are rare but have been previously reported to be associated with craniofacial anomalies, digital anomalies, developmental delay, growth failure, and cardiovascular anomalies. Strehle et al. previously presented 20 patients with 4q deletions and began to construct a phenotype-genotype map for chromosome 4q. This report follows up on that work by providing clinical and molecular cytogenetic data on a three generation pedigree including seven patients with short stature, dysmorphic features, and developmental delay identified to have a 4q27-q28.1 microdeletion of approximately 5.68 Mb by oligonucleotide chromosomal microarray. This family represents a rare report of an inherited interstitial deletion of the long arm of chromosome 4. To our knowledge, only two cases have been previously reported. The contribution of candidate genes in the region is discussed. PMID:23895773

Hickey, Scott E; Biswas, Sawona; Thrush, Devon Lamb; Pyatt, Robert E; Gastier-Foster, Julie M; Astbury, Caroline; Atkin, Joan

2013-09-01

57

High dose growth hormone treatment induces acceleration of skeletal maturation and an earlier onset of puberty in children with idiopathic short stature  

Microsoft Academic Search

Background: Long term growth hormone (GH) treatment in children with idiopathic short stature (ISS) results in a relatively small mean gain in final height of 3–9 cm, which may not justify the cost of treatment. As it is unknown whether GH treatment during puberty adds to final height gain, we sought to improve the cost–benefit ratio, employing a study design

G A Kamp; J J J Waelkens; S M P F de Muinck Keizer-Schrama; H A Delemarre-Van de Waal; L Verhoeven-Wind; A H Zwinderman; J M Wit

2002-01-01

58

Clinical Features: Patients with Floating Harbor syndrome [OMIM #136140] typically have short stature, delayed osseous  

E-print Network

Activator Protein, Cause Floating Harbor Syndrome." (2012) Am J Hum Genet 90(2): 308-313. 2. White S et al1/13 Clinical Features: Patients with Floating Harbor syndrome [OMIM #136140] typically have short of affected individuals include a triangular shaped face, short philtrum, wide mouth, and a long nose

Ober, Carole

59

Genetics Home Reference: Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething ...  

MedlinePLUS

... signaling. Researchers are working to determine how these changes lead to the specific features of SHORT syndrome. PI3K's role in insulin activity may be related to the development of insulin resistance and diabetes, and problems with adipocyte maturation might ...

60

Marked increase of final height by long-term aromatase inhibition in a boy with idiopathic short stature.  

PubMed

Growth hormone (GH) is the most frequently used treatment in children with idiopathic short stature (ISS). Aromatase inhibitor (AI) therapy is still in an experimental state, and both final height (FH) and long-term efficacy data in ISS have not been published. We present a 14.5-year-old boy with ISS and a height of 142.7 cm [standard deviation score (SDS) -2.79]. Based on the baseline bone age (BA) of 13.5-14 years, his predicted adult height (PAH) by Bayley/Pinneau was 154 cm (SDS -3.77)-158.2 (SDS -3.15). After a 5-year letrozole monotherapy, FH was 169 cm (SDS -1.57) showing a height difference between PAH and FH from 10.8 to 15 cm. No permanent side effects of the medication have been observed. Both a transient occurrence and a spontaneous recovery of decreased bone mineral apparent density were seen, verified by dual-energy X-ray absorptiometry. Spinal magnetic resonance imaging revealed no vertebral abnormalities. All therapy might be an effective and low-cost alternative to the use of GH. Further controlled trials should prove efficacy and safety of long-term AI therapy in boys with ISS. PMID:22876562

Krebs, Andreas; Moske-Eick, Olaf; Doerfer, Jürgen; Roemer-Pergher, Cordula; van der Werf-Grohmann, Natascha; Schwab, Karl Otfried

2012-01-01

61

Polymerase ?1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (“FILS syndrome”)  

PubMed Central

DNA polymerase ? (Pol?) is a large, four-subunit polymerase that is conserved throughout the eukaryotes. Its primary function is to synthesize DNA at the leading strand during replication. It is also involved in a wide variety of fundamental cellular processes, including cell cycle progression and DNA repair/recombination. Here, we report that a homozygous single base pair substitution in POLE1 (polymerase ? 1), encoding the catalytic subunit of Pol?, caused facial dysmorphism, immunodeficiency, livedo, and short stature (“FILS syndrome”) in a large, consanguineous family. The mutation resulted in alternative splicing in the conserved region of intron 34, which strongly decreased protein expression of Pol?1 and also to a lesser extent the Pol?2 subunit. We observed impairment in proliferation and G1- to S-phase progression in patients’ T lymphocytes. Pol?1 depletion also impaired G1- to S-phase progression in B lymphocytes, chondrocytes, and osteoblasts. Our results evidence the developmental impact of a Pol? catalytic subunit deficiency in humans and its causal relationship with a newly recognized, inherited disorder. PMID:23230001

Pachlopnik Schmid, Jana; Lemoine, Roxane; Nehme, Nadine; Cormier-Daire, Valéry; Revy, Patrick; Debeurme, Franck; Debré, Marianne; Nitschke, Patrick; Bole-Feysot, Christine; Legeai-Mallet, Laurence; Lim, Annick; de Villartay, Jean-Pierre; Picard, Capucine; Durandy, Anne; Fischer, Alain

2012-01-01

62

Motives for choosing growth-enhancing hormone treatment in adolescents with idiopathic short stature: a questionnaire and structured interview study  

PubMed Central

Background Growth-enhancing hormone treatment is considered a possible intervention in short but otherwise healthy adolescents. Although height gain is an obvious measure for evaluating hormone treatment, this may not be the ultimate goal for the person, but rather a means to reach other goals such as the amelioration of current height-related psychosocial problems or the enhancement of future prospects in life and society. The aim of our study was to clarify the motives of adolescents and their parents when choosing to participate in a growth-enhancing trial combining growth hormone and puberty-delaying hormone treatment. Methods Participants were early pubertal adolescents (25 girls, 13 boys) aged from 11 to 13 years (mean age 11.5 years) with a height standard deviation score (SDS) ranging from -1.03 to -3.43. All had been classified as idiopathic short stature or persistent short stature born small for the gestational age (intrauterine growth retardation) on the basis of a height SDS below -2, or had a height SDS between -1 and -2 and a predicted adult height SDS below -2. The adolescents and their parents completed questionnaires and a structured interview on the presence of height-related stressors, parental worries about their child's behavior and future prospects, problems in psychosocial functioning, and treatment expectations. Questionnaire scores were compared to norms of the general Dutch population. Results The adolescents reported normal psychosocial functioning and highly positive expectations of the treatment in terms of height gain, whereas the parents reported that their children encountered some behavioral problems (being anxious/depressed, and social and attention problems) and height-related stressors (being teased and juvenilized). About 40% of the parents were worried about their children's future prospects for finding a spouse or job. The motives of the adolescents and their parents exhibited rather different profiles. The most prevalent parental worries related to the current or future functioning of their children, while a few cases were characterized by no observed motives or by psychosocial problems only reported by the adolescents themselves. Conclusion The motives for participating in a growth-enhancing hormone trial are more obvious in the parents than in the adolescents themselves. Two out of three parents report worries about the future opportunities or observe modest current psychosocial problems in their children. The adolescents want to gain height, but the motivation underlying this remains unclear. Few of the adolescents experience psychosocial problems. Our analyses revealed differences among individuals in terms of motives, which implies that in an evaluation of hormone treatment, the importance of divergent outcome variables will also differ among individuals. Effectiveness evaluations of hormone treatment to increase height and the consequential fulfillment of other goals must be awaited. PMID:15943869

Visser – van Balen, Hanneke; Geenen, Rinie; Kamp, Gerdine A; Huisman, Jaap; Wit, Jan M; Sinnema, Gerben

2005-01-01

63

Effect of Pubertal Suppression on Linear Growth and Body Mass Index; a Two-Year Follow-Up in Girls with Genetic Short Stature and Rapidly Progressive Puberty  

PubMed Central

Objective: Gonadotropin-Releasing Hormone agonists (GnRHa) are used to improve the final adult height in short stature children. There are limited studies which address the potential side effect of these agents: excessive weight gain. We have followed girls with rapidly progressive puberty receiving GnRHa and results were focused on the effect of treatment on final height, weight and body mass index Methods: Thirty girls between 8.5 and 12 years with short stature and predicted adult height of less than 155 cm were enrolled in the study. All had rapidly progressive puberty. Weight and height measurements were done at the beginning of treatment, 6 and 12 months after starting and 6 and 12 months after the cessation of treatment. Bone age and stages of puberty were estimated at the beginning of treatment, after 12 months of starting and 12 months after the treatment was stopped. Findings : Predicted adult height (PAH) changes during treatment were not significant. There was no significant difference between final height and weight according to the body mass index (BMI), PAH or bone age. Conclusion: We conclude that girls with genetic short stature and rapidly progressive puberty will not benefit receiving a one-year course of GnRHa and there is no significant difference between the final height and final weigh among children according to BMI.

Karamizadeh, Zohreh; Amirhakimi, Anis; Amirhakimi, Gholamhossein

2014-01-01

64

Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature.  

PubMed

SHOX (short stature homeobox-containing gene) mutations causing haploinsufficiency have been reported in some individuals with idiopathic short stature and in many patients with Leri-Weill-dyschondrosteosis. Around 80% of SHOX mutations are complete gene deletions, whereas diverse point mutations account for the rest. The aim of this study was to estimate the prevalence of SHOX mutations in children with idiopathic short stature and to give an unbiased characterization of the haploinsufficiency phenotype of such children. We recruited 140 children (61 girls), in our clinic, with idiopathic short stature, which was defined by the presence of normal IGF-I and free T(4); a normal karyotype in females; the absence of endomysium antibodies, of chronic organic, psychological, or syndromatic disease; and by the lack of clear signs of any osteodysplasia. Height, arm span, and sitting height were recorded, and subischial leg length was calculated. Two highly polymorphic microsatellite markers located around the SHOX coding region (CA-SHOX repeat and DXYS233) were PCR-amplified with fluorescent primers and separated in an automatic sequencing machine. Analysis of parental DNA was performed in the probands who had only one fragment size of each of both markers. SHOX haploinsufficiency caused by a SHOX deletion was confirmed in three probands (2%), all females, who carried a de novo deletion through loss of the paternal allele. Their auxological data revealed a significant shortening of arms and legs in the presence of a low-normal sitting height, when compared with the other 137 children tested. Therefore, the extremities-trunk ratio (sum of leg length and arm span, divided by sitting height) for total height was significantly lower in the three SHOX haploinsufficient probands, in comparison with the whole group. This observation was confirmed with the auxological data of five additional patients (four females) previously diagnosed with SHOX haploinsufficiency; all but the youngest girl had height-adjusted extremities-trunk ratios more than 1 SD below the mean. All children with SHOX haploinsufficiency exhibited at least one characteristic radiological sign of Leri-Weill-dyschondrosteosis in their left-hand radiography, namely triangularization of the distal radial epiphysis, pyramidalization of the distal carpal row, or lucency of the distal ulnar border of the radius. Our observations suggest that it is rational to limit SHOX mutation screening to children with an extremities-trunk ratio less than 1.95 + 1/2 height (m) and to add a critical judgment of the hand radiography. PMID:14557470

Binder, Gerhard; Ranke, Michael B; Martin, David D

2003-10-01

65

Mental retardation/shortness of stature/multiple minor anomalies syndrome associated with insertion of 3q material into 18p  

SciTech Connect

This is a case report of a 16-year-old Arab girl with mental subnormality, shortness of stature and multiple minor phenotypic anomalies. She is obese with normal secondary sexual characteristics, and has a speech deficit. Cytogenetic studies showed a 46,XX,dir ins (18;3)(p11.1;q13.2{yields}q25). The chromosome arrangement appeared balanced. Her condition is not a recognizable specific syndrome; thus, it remained unclear as to whether her condition is attributable to disruption of 3q or 18p or both. Further cytogenetic analysis by molecular biologists is required to solve this problem. 9 refs., 3 figs.

Al-Attia, H.M.; Sedaghatian, M.R. [Mafraq Hospital, Abu Dhabi (United Arab Emirates)

1995-03-13

66

A novel TRPS1 gene mutation causing trichorhinophalangeal syndrome with growth hormone responsive short stature: a case report and review of the literature  

PubMed Central

The role of growth hormone (GH) and its therapeutic supplementation in the trichorhinophalangeal syndrome type I (TRPS I) is not well delineated. TRPS I is a rare congenital syndrome, characterized by craniofacial and skeletal malformations including short stature, sparse, thin scalp hair and lateral eyebrows, pear-shaped nose, cone shaped epiphyses and hip dysplasia. It is inherited in an autosomal dominant manner and caused by haploinsufficiency of the TRPS1 gene. We report a family (Mother and 3 of her 4 children) with a novel mutation in the TRPS1 gene. The diagnosis was suspected only after meeting all family members and comparing affected and unaffected siblings since the features of this syndrome might be subtle. The eldest sibling, who had neither GH deficiency nor insensitivity, improved his growth velocity and height SDS after 2 years of treatment with exogenous GH. No change in growth velocity was observed in the untreated siblings during this same period. This report emphasizes the importance of examining all family members when suspecting a genetic syndrome. It also demonstrates the therapeutic effect of GH treatment in TRPS I despite normal GH-IGF1 axis. A review of the literature is included to address whether TRPS I is associated with: a) GH deficiency, b) GH resistance, or c) GH-responsive short stature. More studies are needed before recommending GH treatment for TRPS I but a trial should be considered on an individual basis. PMID:25177352

2014-01-01

67

Bone Age Progression during the First Year of Growth Hormone Therapy in Pre-Pubertal Children with Idiopathic Growth Hormone Deficiency, Turner Syndrome or Idiopathic Short Stature, and in Short Children Born Small for Gestational Age: Analysis of Data from KIGS (Pfizer International Growth Database)  

Microsoft Academic Search

Background\\/Aims: The beneficial effects of growth hormone (GH) therapy on statural growth in children are well established, but the effects on skeletal maturation are less clear. The progression of bone age (BA) was therefore studied during the first year of GH treatment in pre-pubertal children with idiopathic GH deficiency (GHD), Turner syndrome (TS) or idiopathic short stature (ISS), and in

Feyza Darendeliler; Michael B. Ranke; Bert Bakker; Anders Lindberg; Christopher T. Cowell; Kerstin Albertsson-Wikland; Edward O. Reiter; David A. Price

2005-01-01

68

Linking a short-stature specific health-related quality of life measure (QoLISSY) to the International Classification of Functioning - Children and Youth (ICF-CY).  

PubMed

Abstract Purpose: The study aimed to examine and compare the content of the quality of life in short-stature youth questionnaire (QoLISSY) with the International Classification of Functioning, Disability and Health - Children and Youth (ICF-CY). Methods: Items of the QoLISSY questionnaire for children/adolescents and their parents were coded within the framework of the ICF-CY. Linkage was performed according to predetermined standards by two health professionals experienced in the conceptual fundaments of the ICF-CY. Results: Within the linking process 58 meaningful concepts were identified from the 55 items out of the QoLISSY parent questionnaire and 55 meaningful concepts from the 50 items of the QoLISSY (children) questionnaire. In total, 57 concepts (parent-questionnaire) and 54 concepts (children-questionnaire) were linked to the different categories of the ICF-CY. Twenty-seven categories (parents-version) and 20 categories (child-version) referred to the component body functions, 34 categories (parent-version) and 30 categories (child-version) represented the activity and participation component and in each version 30 categories represented the environmental factors component. Conclusions: The present study indicates that the ICF-CY provides a useful frame of reference to compare and examine the content of HrQoL instruments for short-statured children and adolescents and their parents. The linkage of the QoLISSY instrument within the framework of the ICF-CY translates its content into a universal language. Implications for Rehabilitation The linkage of Quality of Life - Questionnaires to the ICF-CY provides guidance for clinicians and researchers in the selection of appropriate instruments complying with ICF categories. Linking the QoLISSY instrument to the ICF may raise awareness in clinicians and researchers about domains relevant for young people with short-stature from a well-being and functioning perspective. In the linkage exercise, the ICF serves as a reference matrix which can be used to compare and better understand QoL domains of different instruments. With the linkage, effects of interventions as assessed via QoLISSY can be tied to ICF categories. PMID:24893974

Sommer, Rachel; Bullinger, Monika; Rohenkohl, Anja; Quitmann, Julia; Brütt, Anna Levke

2014-06-01

69

Familial short stature due to a 5q22.1-q23.2 duplication refines the 5q duplication spectrum.  

PubMed

We identified a maternally inherited 14.2Mb duplication 5q22.1-q23.2 in two female siblings and their mother by molecular karyotyping. Both siblings were small for gestational age and presented with pronounced postnatal growth retardation, mild motor delay, congenital heart disease in one of the siblings, and distinct facial dysmorphism. As this duplication is one of the smallest reported 5q duplications, short stature and facial dysmorphism can be attributed to duplications of 5q22, whereas severe mental retardation is not part of the phenotypic spectrum of the 5q22.1-q23.2 region. Congenital heart defects, as observed in other 5q duplications, have a variable penetrance. We compared the facial features of patients with 5q duplications and found some consistent features such as high arched eyebrows, bulbous nasal tip and small lips with thin vermilion border. PMID:21777705

Zahnleiter, Diana; Trautmann, Udo; Ekici, Arif B; Goehring, Ina; Reis, André; Dörr, Helmuth-Günther; Rauch, Anita; Thiel, Christian T

2011-01-01

70

The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature.  

PubMed

Albright hereditary osteodystrophy (AHO)-like syndrome is also known as brachydactyly-mental retardation syndrome (BDMR; OMIM 60040). This disorder includes intellectual disability in all patients, skeletal abnormalities, including brachydactyly E (BDE) in approximately half, obesity, and facial dysmorphism. Patients with 2q37 microdeletion or HDAC4 mutation are defined as having an AHO-like phenotype with normal stimulatory G (Gs) function. HDAC4 is involved in neurological, cardiac, and skeletal function. This paper reports the first familial case of 2q37.3 interstitial deletion affecting two genes, HDAC4 and TWIST2. Patients presented with BDE and short stature without intellectual disability, showing that haploinsufficiency of the HDAC4 critical region may lead to a spectrum of phenotypes, ranging from isolated brachydactyly type E to BDMR. © 2014 Wiley Periodicals, Inc. PMID:25402011

Jean-Marçais, Nolwenn; Decamp, Matthieu; Gérard, Marion; Ribault, Virginie; Andrieux, Joris; Kottler, Marie-Laure; Plessis, Ghislaine

2015-01-01

71

A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature.  

PubMed

Silver-Russell syndrome (SRS) is a heterogeneous disorder characterized by intrauterine and postnatal growth retardation, dysmorphic facial features and body asymmetry. Both hypomethylation of the telomeric imprinting control region 1 (ICR1) at 11p15.5 and maternal duplication of 11p15.5 have been implicated in the etiology of this disorder. Here we report the origin and segregation of the first reported between-arm intrachromosomal insertion of 11p15.5 that encompasses both ICR1 and ICR2 in a multigenerational family with a history of short stature. One (or any odd number) crossover within the centromeric segment during meiosis would produce recombinant chromosomes; one with a duplication of the inserted segment and the other a deletion. In this 4-generation family, there were six instances of transmission of the recombinant chromosome with duplication of the11p15.5 segment, which leads to a SRS phenotype when maternally inherited and a Beckwith-Wiedemann phenotype when paternally transmitted. The size of the duplicated region is ~1.9 Mb as determined by microarray analysis. This study provides further evidence that maternally inherited duplications of 11p15.5 result in a SRS phenotype that includes short stature and other variable features. The methylation status of the extra copy of the duplicated region of 11p15.5 ultimately predicts the resulting phenotype. Thus, the different phenotype based on parental mode of transmission is of importance in the genetic counseling of these patients. PMID:24668696

Brown, Lindsay A; Rupps, Rosemarie; Peńaherrera, Maria S; Robinson, Wendy P; Patel, Millan S; Eydoux, Patrice; Boerkoel, Cornelius F

2014-06-01

72

Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus  

SciTech Connect

Uniparental disomy for chromosome 7 has been described previously in two individuals with cystic fibrosis. Here, the authors describe a third case that was discovered because the proband was homozygous for a mutation in the COL1A2 gene for type I procollagen, although his mother was heterozygous and his father did not have the mutation. Phenotypically, the proband was similar to the two previously reported cases with uniparental disomy for chromosome 7, in that he was short in stature and growth retarded. Paternity was assessed with five polymorphic markers. Chromosome 7 inheritance in the proband was analyzed using 12 polymorphic markers distributed along the entire chromosome. Similar analysis of the proband's two brothers established the phase of the alleles at the various loci, assuming minimal recombination. The proband inherited only maternal alleles at five loci and was homozygous at all loci examined, except one. He was heterozygous for an RFLP at the IGBP-1 locus at 7p13-p12. The results suggest that the isodisomy was not complete because of a recombination event involving the proximal short arms of two maternal chromosomes. In addition, the phenotype of proportional dwarfism in the proband suggests imprinting of one or more growth-related genes on chromosome 7. 42 refs., 5 figs., 3 tabs.

Spotila, L.D.; Sereda, L.; Prockop, D.J. (Jefferson Medical College, Philadelphia, PA (United States))

1992-12-01

73

Subclassification of Small for Gestational Age Children with Persistent Short Stature: Growth Patterns and Response to GH Treatment  

Microsoft Academic Search

Aim: We determined whether subclassification of short small for gestational age (SGA) children according to birth anthropometrics could delineate different patterns in gestation, delivery, postnatal growth, response to growth hormone (GH) treatment and parental height. Methods: 201 short SGA children were divided into three groups, SGAL, SGAL+W and SGAL+W+HC, according to birth length (L), weight (W) and head circumference (HC)

Wietske Ester; Ellen Bannink; Marije van Dijk; Ruben Willemsen; Danielle van der Kaay; Maria de Ridder; Anita Hokken-Koelega

2008-01-01

74

Impact of aromatase inhibitor therapy on bone turnover, cortical bone growth and vertebral morphology in pre- and peripubertal boys with idiopathic short stature.  

PubMed

In this randomized placebo-controlled study we examined the influence of aromatase inhibition on bone turnover, cortical bone growth, and vertebral body morphology in peripubertal boys. Thirty peripubertal boys with idiopathic short stature were treated with the aromatase inhibitor letrozole or placebo for 2 years. During treatment and posttreatment follow-up, dual-energy X-ray absorptiometry (DXA)-assessed bone mineral density, metacarpal index (MCI), and markers of bone turnover were examined. Vertebral morphology was examined by DXA after cessation of treatment. In letrozole-treated boys, the concentrations of the bone resorption marker urine aminoterminal telopeptide of type I collagen initially increased and thereafter slowly declined while the concentrations of the bone formation markers serum aminoterminal propeptide of type I collagen and serum alkaline phosphatase remained unchanged or slightly increased, respectively. In placebo-treated boys, all markers of bone turnover increased significantly during treatment. Among those who progressed into puberty, metacarpal index (MCI) increased more in the letrozole-treated than in the placebo-treated boys during treatment (25 vs. 9%, p = 0.007). The change in MCI correlated with the testosterone-to-estradiol ratio (r = 0.59, p = 0.02). Vertebral deformities were detected in 6 out of 13 boys receiving letrozole and in 4 out of 11 receiving placebo (p = 0.70). Aromatase inhibition suppresses bone turnover, possibly through an androgen-mediated effect. In pubertal boys, treatment stimulates cortical bone growth by increasing the testosterone-to-estradiol ratio. PMID:19339794

Hero, Matti; Mäkitie, Outi; Kröger, Heikki; Nousiainen, Elina; Toiviainen-Salo, Sanna; Dunkel, Leo

2009-01-01

75

Short stature, digit anomalies and dysmorphic facial features are associated with the duplication of miR-17?~?92 cluster  

PubMed Central

MicroRNAs (miRNAs) are key regulators of gene expression, playing important roles in development, homeostasis, and disease. Recent experimental evidence indicates that mutation or deregulation of the MIR17HG gene (miR-17?~?92 cluster) contributes to the pathogenesis of a variety of human diseases, including cancer and congenital developmental defects. We report on a 9-year-old boy who presented with developmental delay, autism spectrum disorder, short stature, mild macrocephaly, lower facial weakness, hypertelorism, downward slanting palpebral fissures, brachydactyly, and clinodactyly. SNP-microarray analysis revealed 516 kb microduplication at 13q31.3 involving the entire MIR17HG gene encoding the miR-17?~?92 polycistronic miRNA cluster, and the first five exons of the GPC5 gene. Family study confirmed that the microduplication was maternally inherited by the proband and one of his five half-brothers; digit and other skeletal anomalies were exclusive to the family members harboring the microduplication. This case represents the smallest reported microduplication to date at 13q31.3 and provides evidence supporting the important role of miR-17?~?92 gene dosage in normal growth and skeletal development. We postulate that any dosage abnormality of MIR17HG, either deletion or duplication, is sufficient to interrupt skeletal developmental pathway, with variable outcome from growth retardation to overgrowth. PMID:24739087

2014-01-01

76

SAMS, a Syndrome of Short Stature, Auditory-Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities Is a Unique Neurocristopathy Caused by Mutations in Goosecoid  

PubMed Central

Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS) has been reported previously to be a rare, autosomal-recessive developmental disorder with other, unique rhizomelic skeletal anomalies. These include bilateral humeral hypoplasia, humeroscapular synostosis, pelvic abnormalities, and proximal defects of the femora. To identify the genetic basis of SAMS, we used molecular karyotyping and whole-exome sequencing (WES) to study small, unrelated families. Filtering of variants from the WES data included segregation analysis followed by comparison of in-house exomes. We identified a homozygous 306 kb microdeletion and homozygous predicted null mutations of GSC, encoding Goosecoid homeobox protein, a paired-like homeodomain transcription factor. This confirms that SAMS is a human malformation syndrome resulting from GSC mutations. Previously, Goosecoid has been shown to be a determinant at the Xenopus gastrula organizer region and a segment-polarity determinant in Drosophila. In the present report, we present data on Goosecoid protein localization in staged mouse embryos. These data and the SAMS clinical phenotype both suggest that Goosecoid is a downstream effector of the regulatory networks that define neural-crest cell-fate specification and subsequent mesoderm cell lineages in mammals, particularly during shoulder and hip formation. Our findings confirm that Goosecoid has an essential role in human craniofacial and joint development and suggest that Goosecoid is an essential regulator of mesodermal patterning in mammals and that it has specific functions in neural crest cell derivatives. PMID:24290375

Parry, David A.; Logan, Clare V.; Stegmann, Alexander P.A.; Abdelhamed, Zakia A.; Calder, Alistair; Khan, Shabana; Bonthron, David T.; Clowes, Virginia; Sheridan, Eamonn; Ghali, Neeti; Chudley, Albert E.; Dobbie, Angus; Stumpel, Constance T.R.M.; Johnson, Colin A.

2013-01-01

77

Growth Hormone/Insulin-Like Growth Factor-1 Axis as Related to Body Mass Index in Patients with Idiopathic Short Stature  

PubMed Central

Objective: Idiopathic short stature (ISS) is a heterogeneous disorder. An impairment of growth hormone (GH)/insulin-like growth factor 1 (IGF-1)/IGF-1 receptor (IGF-1 R) axis is postulated. To evaluate the somatotropic axis in relation to body mass index (BMI), serum IGF-1, IGF-binding protein-3 (IGFBP-3) and the expression of IGF-1 R genes in patients with ISS. Methods: Fifty-five ISS patients (24F/31M) aged 14.6±5.5 years (range 3.5-28.5 years) and 25 BMI- and pubertal stage-matched peers were enrolled in the study. The ISS patients underwent a four-day standard GH stimulation test to evaluate IGF-1 generation. mRNA expression of the IGF-1 R gene in peripheral blood leukocytes was evaluated. ISS patients and controls were compared with respect to anthropometric and laboratory data. The results were also analyzed after subdividing the two groups into low-normal [BMI standard deviation score (SDS) between -2 to -1)] and normal (BMI SDS between -1 to +1) BMI subgroups. Results: Basal serum IGF-1 concentrations were lower in ISS subjects compared to controls who had similar BMI SDS values (p=0.000). Subgroup analyses revealed that there were no significant differences between low-normal BMI ISS subjects and low-normal BMI controls with respect to serum IGF-1 and IGFBP-3 concentrations. However, in the normal BMI ISS subgroup, basal and stimulated IGF-1 levels were significantly lower than the basal values in their control counterparts (basal: p=0.000; stimulated: p=0.007). mRNA expression of IGF-1 R gene was not found to be significantly different in ISS subjects and controls. Conclusions: ISS patients were found to have lower IGF-1 concentrations than BMI-matched peers, a finding supporting presence of an impairment in the somatotropic axis. IGF-1 R expression does not seem to be impaired in ISS patients. ISS patients with low-normal BMI SDS also tend to display a relative IGF-1 resistance, whereas those with normal BMI SDS tend to be less GH-sensitive than healthy peers. Conflict of interest:None declared. PMID:23419423

Cengiz, P?nar; Ba?, Firdevs; Atalar, Fatmahan; Uçar, Ahmet; Darendeliler, Feyza; Akan, Gökçe; Tarhan, Tu?ba; Bundak, Rüveyde

2013-01-01

78

Original Research Article Stature and Sexual Stature Dimorphism in Sweden,  

E-print Network

Original Research Article Stature and Sexual Stature Dimorphism in Sweden, from the 10th to the End Department of Zoology, Stockholm University, S-106 91 Stockholm, Sweden 2 Department of Palaeozoology, Swedish Museum of Natural History, S-104 05 Stockholm, Sweden ABSTRACT Mean stature in a population has

Lindenfors, Patrik

79

Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: A new X-linked multiple congenital anomalies/mental retardation syndrome: Clinical description and molecular studies  

SciTech Connect

We report on two brothers and their two maternal uncles with severe mental retardation, congenital heart defect, cleft or highly arched palate, short stature and craniofacial anomalies consisting of microcephaly, abnormal ears, bulbous nose, broad nasal bridge, malar hypoplasia, and micro-gnathia. Three of the four patients died at an early age. The mother of the two brothers had an atrial septal defect. She is assumed to be manifesting carrier of a mutant gene, which is expressed in her two sons and two brothers. By multipoint linkage analysis it is found that the most likely location of the responsible gene is the pericentromeric region Xp21.3-q21.3 with DMD and DXS3 as flanking markers. Maximum information is obtained with marker DXS453 (Z = 1.20 at {theta} = 0.0). 24 refs., 12 figs., 1 tab.

Hamel, B.C.J.; Mariman, E.C.M.; Beersum, S.E.C. van; Ropers, H.H. [University Hospital, Nijmegen (Netherlands); Schoonbrood-Lenssen, A.M.J. [Institute for the Mentally Retarded, Echt (Netherlands)

1994-07-15

80

Comparison of response to 2-years’ growth hormone treatment in children with isolated growth hormone deficiency, born small for gestational age, idiopathic short stature, or multiple pituitary hormone deficiency: combined results from two large observational studies  

PubMed Central

Background Few studies have compared the response to growth hormone (GH) treatment between indications such as isolated growth hormone deficiency (IGHD), born small for gestational age (SGA), idiopathic short stature (ISS), and multiple pituitary hormone deficiency (MPHD). The aim of this analysis of data, collected from two large ongoing observational outcome studies, was to evaluate growth and insulin-like growth factor-I (IGF-I) response data for children of short stature with IGHD, MPHD, SGA, or ISS following two years of treatment with the recombinant GH product Norditropin® (Novo Nordisk A/S, Bagsvćrd, Denmark). Methods Analysis of auxologic data from two ongoing prospective observational studies, NordiNet® International Outcomes Study (NordiNet® IOS) and NovoNet®/American Norditropin® Studies: Web-enabled Research (ANSWER) Program®. Results 4,582 children aged <18?years were included: IGHD, n?=?3,298; SGA, n?=?678; ISS, n?=?334; and MPHD, n?=?272. After two years’ GH treatment, change in height standard deviation score (SDS) was +1.03 in SGA and +0.84 in ISS vs. +0.97 in IGHD (p?=?0.047; p?

2012-01-01

81

Deletion of Prepl Causes Growth Impairment and Hypotonia in Mice  

PubMed Central

Genetic studies of rare diseases can identify genes of unknown function that strongly impact human physiology. Prolyl endopeptidase-like (PREPL) is an uncharacterized member of the prolyl peptidase family that was discovered because of its deletion in humans with hypotonia-cystinuria syndrome (HCS). HCS is characterized by a number of physiological changes including diminished growth and neonatal hypotonia or low muscle tone. HCS patients have deletions in other genes as well, making it difficult to tease apart the specific role of PREPL. Here, we develop a PREPL null (PREPL?/?) mouse model to address the physiological role of this enzyme. Deletion of exon 11 from the Prepl gene, which encodes key catalytic amino acids, leads to a loss of PREPL protein as well as lower Prepl mRNA levels. PREPL?/? mice have a pronounced growth phenotype, being significantly shorter and lighter than their wild type (PREPL+/+) counterparts. A righting assay revealed that PREPL?/? pups took significantly longer than PREPL+/+ pups to right themselves when placed on their backs. This deficit indicates that PREPL?/? mice suffer from neonatal hypotonia. According to these results, PREPL regulates growth and neonatal hypotonia in mice, which supports the idea that PREPL causes diminished growth and neonatal hypotonia in humans with HCS. These animals provide a valuable asset in deciphering the underlying biochemical, cellular and physiological pathways that link PREPL to HCS, and this may eventually lead to new insights in the treatment of this disease. PMID:24586561

Lone, Anna Mari; Leidl, Mathias; McFedries, Amanda K.; Horner, James W.; Creemers, John; Saghatelian, Alan

2014-01-01

82

Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3  

PubMed Central

Background A partial duplication of the distal long arm of chromosome 5 (5q35--?>?qter) is known to be associated with a distinct phenotype referred to as Hunter-McAlpine syndrome. Clinical spectrum of this disorder mainly consists of mental retardation, microcephaly, short stature, skeletal anomalies, and craniofacial dysmorphism featuring flat facies, micrognathia, large, low-set dysplastic ears, hypertelorism, almond-shaped, down-slanted palpebral fissures, epicanthal folds, small nose, long philtrum, small mouth, and thin upper lip. Less frequent remarkable findings include craniosynostosis, heart defect, hypoplastic phalanges, preaxial polydactyly, hypospadias, cryptorchidism, and inguinal hernia. In most patients with a partial duplication of 5q the aberration occurred due to an inherited unbalanced translocation, therefore the phenotype was not reflective of pure trisomy 5q. Case presentation We report on a 9.5-year-old boy with some feature of Hunter-McAlpine syndrome including short stature, complex heart defect (dextrocardia, dextroversion, PFO), bilateral cryptorchidism, hypothyroidism, and craniofacial dysmorphism. Additionally, bilateral radial agenesis with complete absence of Ist digital rays, ulnar hypoplasia with bowing, choroidal and retinal coloboma, abnormal biliary vesicle were identified, which have never been noted in 5q trisomy patients. Karyotype analysis, sequencing and MLPA for TBX5 and SALL4 genes were unremarkable. Array comparative genomic hybridization detected a duplication on 5q35.2-5q35.3, resulting from a de novo chromosomal rearrangement. Our proband carried the smallest of all previously reported pure distal 5q trisomies encompassing terminal 5.4-5.6 Mb and presented with the most severe limb malformation attributed to the increased number of distal 5q copies. Conclusions We postulate that a terminal distal trisomy of 5q35.2-5q35.3, which maps 1.1 Mb telomeric to the MSX2 gene is causative for both radial agenesis and complex heart defect in our proband. A potential candidate gene causative for limb malformation in our proband could be FGFR4, which maps relatively in the closest position to the chromosomal breakage site (about 1.3 Mb) from all known 5q duplications. Since the limb malformation as well as the underlying genetic defect are distinct from other 5q trisomy patient we propose that a position effect resulting in altered long-range regulation of the FGFR4 (alternatively MSX2) may be responsible for the limb malformation in our proband. PMID:23342975

2013-01-01

83

Stature and frailty during the Black Death: the effect of stature on risks of epidemic mortality in London, A.D. 1348–1350  

PubMed Central

Recent research has shown that preexisting health condition affected an individual’s risk of dying during the 14th-century Black Death. However, a previous study of the effect of adult stature on risk of mortality during the epidemic failed to find a relationship between the two; this result is perhaps surprising given the well-documented inverse association between stature and mortality in human populations. We suggest that the previous study used an analytical approach that was more complex than was necessary for an assessment of the effect of adult stature on risk of mortality. This study presents a reanalysis of data on adult stature and age-at-death during the Black Death in London, 1348–1350 AD. The results indicate that short stature increased risks of mortality during the medieval epidemic, consistent with previous work that revealed a negative effect of poor health on risk of mortality during the Black Death. However, the results from a normal, non-epidemic mortality comparison sample do not show an association between stature and risks of mortality among adults under conditions of normal mortality. Fisher’s exact tests, used to determine whether individuals who were growing during the Great Famine of 1315–1322 were more likely to be of short stature than those who did not endure the famine, revealed no differences between the two groups, suggesting that the famine was not a source of variation in stature among those who died during the Black Death. PMID:24363485

DeWitte, Sharon N.; Hughes-Morey, Gail

2013-01-01

84

Cohen syndrome – a rare genetic cause of hypotonia in children  

PubMed Central

ABSTRACT Cohen syndrome is a rare, genetic condition, recessively inherited, associated with specific facial dysmorphism, global developmental delay, hypotonia and ophthalmic abnormalities. A delay in making the diagnosis commonly occurs, because of the lack of a definitive molecular test and also because of the clinical variability of the syndrome. In this paper we describe four cases of Cohen syndrome, together with a comparison with other cases reported in the literature, in order to further delineate this condition. PMID:21977120

Budisteanu, Magdalena; Barca, Diana; Chirieac, Sorina Mihaela; Magureanu, Sanda

2010-01-01

85

Deletions of Yq11 associated with short stature and the Turner syndrome. Tentative mapping of a region associated with specific Turner stigmata to proximal interval 5.  

SciTech Connect

Turner syndrome is a complex human phenotype, commonly associated with a 45,X karyotype. Mapping the Turner phenotype is difficult since hidden mosaicisms, partial monosomy and complex rearrangements are present in many affected individuals. In addition, attempts to map the genes involved to the X chromosome have failed to yield a consistent localisation. An alternative approach to map and identify Turner genes is to study XY individuals, with sex chromosome abnormalities, who present with or without characteristic Turner stigmata. We report the analysis of 4 individuals with terminal deletions of Yq. The individuals were azoospermic males without phenotypic abnormalities (2 cases) and azoospermic males presenting with a specific subset of Turner stigmata (2 cases). Breakpoints in each of the cytogenetically detectable Yq deletions were mapped by Southern analysis and Y chromosome-specific sequence tagged sites (STS). Correlation between the patients phenotypes and the extent of their deletion indicate a critical region associated with specific Turner stigmata (cubitus valgus, shield chest, short fourth metacarpals) and growth retardation at Yq at proximal interval 5. These data provide evidence that the somatic features of the Turner syndrome are most likely caused by haploinsufficiency of genes at several loci.

McElreavey, K.; Barbaux, S.; Vilain, E. [Immunogenetique Humaine 25 rue du Dr. Roux, Paris (France)] [and others

1994-09-01

86

To Acquire Stature: "To Thine Own Self Be True".  

ERIC Educational Resources Information Center

Explains the impossibility of community colleges acquiring stature based on nearby four-year institutions' perceptions of them. Describes characteristics that contribute to excellence in community colleges (e.g, clarity about purposes, and action plans tied to purposes, goals, and short-term objectives). Offers a rationale for focusing on…

Hammons, James O.

1992-01-01

87

Adult stature and anthropomorphic measurements of patients with myelomeningocele  

Microsoft Academic Search

Children with myelomeningocele are extremely short, yet little data exists on adult stature and anthropomorphic measurements. We measured the recumbent length, weight, arm length, sitting height and calculated body mass index of 54 adults with myelomeningocele. Mid parental height was also calculated. Measurements were compared with normative data. Patient charts were reviewed for history of hydrocephalus. The 27 males and

Deborah Rotenstein; Margaret Adams; Donald H. Reigel

1995-01-01

88

Stature is an essential predictor of muscle strength in children  

PubMed Central

Background Children with growth retardation or short stature generally present with lower strength than children of the same chronological age. The aim of the study was to establish if strength was dependent on variables related to stature in a population of healthy children and to propose practical predictive models for the muscle functions tested. A secondary aim was to test for any learning effects concerning strength measured at two successive visits by children. Methods Hand grip, elbow flexion and extension, and knee flexion and extension were measured by fixed dynamometry in 96 healthy subjects (47 girls and 49 boys, aged from 5 to 17?years). Results For the present paediatric population, muscle strength was highly dependent on height. Predictive models are proposed for the muscle functions tested. No learning effect between the first and the second visit was detected for any of the muscle functions tested. Conclusions This work shows that strength measurements using fixed dynamometry are reliable in children when using appropriate standardization of operating procedures. It underlines the particular relationship between body stature and muscle strength. Predictive equations may help with assessing the neuromuscular involvement in children suffering from various disorders, particularly those affecting their stature. PMID:22989265

2012-01-01

89

Physiological Mechanisms of Upper Airway Hypotonia during REM Sleep  

PubMed Central

Study Objectives: Rapid eye movement (REM)-induced hypotonia of the major upper airway dilating muscle (genioglossus) potentially contributes to the worsening of obstructive sleep apnea that occurs during this stage. No prior human single motor unit (SMU) study of genioglossus has examined this possibility to our knowledge. We hypothesized that genioglossus SMUs would reduce their activity during stable breathing in both tonic and phasic REM compared to stage N2 sleep. Further, we hypothesized that hypopneas occurring in REM would be associated with coincident reductions in genioglossus SMU activity. Design: The activity of genioglossus SMUs was studied in (1) neighboring epochs of stage N2, and tonic and phasic REM; and (2) during hypopneas occurring in REM. Setting: Sleep laboratory. Participants: 29 subjects (38 ± 13 y) (17 male). Intervention: Natural sleep, including REM sleep and REM hypopneas. Measurement and Results: Subjects slept overnight with genioglossus fine-wire intramuscular electrodes and full polysomnography. Forty-two SMUs firing during one or more of stage N2, tonic REM, or phasic REM were sorted. Twenty inspiratory phasic (IP), 17 inspiratory tonic (IT), and five expiratory tonic (ET) SMUs were characterized. Fewer units were active during phasic REM (23) compared to tonic REM (30) and stage N2 (33). During phasic REM sleep, genioglossus IP and IT SMUs discharged at slower rates and for shorter durations than during stage N2. For example, the SMU peak frequency during phasic REM 5.7 ± 6.6 Hz (mean ± standard deviation) was less than both tonic REM 12.3 ± 9.7 Hz and stage N2 16.1 ± 10.0 Hz (P < 0.001). The peak firing frequencies of IP/IT SMUs decreased from the last breath before to the first breath of a REM hypopnea (11.8 ± 10.9 Hz versus 5.7 ± 9.4 Hz; P = 0.001) Conclusion: Genioglossus single motor unit activity is significantly reduced in REM sleep, particularly phasic REM. Single motor unit activity decreases abruptly at the onset of REM hypopneas. Citation: McSharry DG; Saboisky JP; DeYoung P; Jordan AS; Trinder J; Smales E; Hess L; Chamberlin NL; Malhotra A. Physiological mechanisms of upper airway hypotonia during REM sleep. SLEEP 2014;37(3):561-569. PMID:24587579

McSharry, David G.; Saboisky, Julian P.; DeYoung, Pam; Jordan, Amy S.; Trinder, John; Smales, Erik; Hess, Lauren; Chamberlin, Nancy L.; Malhotra, Atul

2014-01-01

90

Loss of the N-myc oncogene in a patient with a small interstitial deletion of the short arm of chromosome 2  

SciTech Connect

To our knowledge, only four previous cases of distal chromosome 2p deletions exist in the literature. We present a patient with minor facial anomalies who had a distal interstitial deletion of the short arm of chromosome 2, del(2)(p24.2p25.1). This patient had many features seen in other patients with distal 2p deletion including short stature, {open_quotes}rectangular{close_quotes} facies, microcephaly, hypotonia, and mental retardation. This patient also has sensorineural hearing loss which has been described in one other patient with a similar deletion. The N-myc oncogene has been mapped to 2p24. By fluorescence in situ hybridization using a cDNA probe for the N-myc oncogene, this patient was found to have a deletion of the N-myc oncogene. This confirms the previous map location for N-myc. 17 refs., 3 figs., 1 tab.

Saal, H.M. [Children`s Hospital Medical Center, Cincinnati, OH (United States)] [Children`s Hospital Medical Center, Cincinnati, OH (United States); Johnson, R.C.; Carr, A.G.; Samango-Sprouse, C. [George Washington Univ. School of Medicine, Washington, DC (United States)] [and others] [George Washington Univ. School of Medicine, Washington, DC (United States); and others

1996-12-30

91

Genetics Home Reference: Costello syndrome  

MedlinePLUS

... with Costello syndrome is a childhood cancer called rhabdomyosarcoma, which begins in muscle tissue. Neuroblastoma, a tumor ... hypertrophic ; hypotonia ; malformation ; muscle tone ; mutation ; prevalence ; protein ; rhabdomyosarcoma ; short stature ; stature ; syndrome ; tissue ; transitional cell carcinoma ; ...

92

A New Syndrome with Hypotonia, Obesity, Mental Deficiency, and Facial, Oral, Ocular, and Limb Anomalies  

ERIC Educational Resources Information Center

Presented were three case reports of patients, 8 to 18 years of age, who shared common features, such as obesity beginning in midchildhood, hypotonia, mental deficiency characteristic craniofacial appearance (antimongoloid slant, open mouth, or prominent central incisors), oral and ocular anomalies, and tapering extremities with narrow hands and…

Cohen, M. Michael, Jr.; And Others

1973-01-01

93

Objective Evaluation of Muscle Strength in Infants with Hypotonia and Muscle Weakness  

ERIC Educational Resources Information Center

The clinical evaluation of an infant with motor delay, muscle weakness, and/or hypotonia would improve considerably if muscle strength could be measured objectively and normal reference values were available. The authors developed a method to measure muscle strength in infants and tested 81 typically developing infants, 6-36 months of age, and 17…

Reus, Linda; van Vlimmeren, Leo A.; Staal, J. Bart; Janssen, Anjo J. W. M.; Otten, Barto J.; Pelzer, Ben J.; Nijhuis-van der Sanden, Maria W. G.

2013-01-01

94

Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs.  

PubMed

We describe a brother and sister with Hirschsprung disease, hypotonia, and ptosis. Their condition resembles that in 2 sibs reported by Goldberg and Shprintzen. We conclude that the clinical characteristics in 8 reported cases with similar clinical manifestations represent a distinct autosomal recessive syndrome, Goldberg-Shprintzen syndrome. PMID:1785632

Yomo, A; Taira, T; Kondo, I

1991-11-01

95

Birth of a boy with isolated short stature after prenatal diagnosis of a Xp22.3 nullosomy due to an inherited t(X;15) (p22.3;p10) translocation  

PubMed Central

Key Clinical Message Translocations between X and acrocentric chromosomes are rare. We report on the inheritance of a familial t(X;15)(p22.3;p10) translocation in a fetus referred for short long bones. Cytogenetic analysis revealed an unbalanced translocation combined with a three-gene nullosomy. After genetic counseling, a prognosis was established and a healthy boy was delivered. PMID:25356259

Blondeel, E; Molina-Gomes, D; Bouhanna, P; Fauvert, D; Crosnier, H; Dessuant, H; Vialard, F

2014-01-01

96

Development of an Evidence-Based Clinical Algorithm for Practice in Hypotonia Assessment: A Proposal  

PubMed Central

Background Assessing muscle tone in children is essential during the neurological assessment and is often essential in ensuring a more accurate diagnosis for appropriate management. While there have been advances in child neurology, there remains much contention around the subjectivity of the clinical assessment of hypotonia, which is often the first step in the diagnostic process. Objective In response to this challenge, the objective of the study is to develop and validate a prototype of a decision making process in the form of a clinical algorithm that will guide clinicians during this assessment process. Methods Design research within a pragmatic stance will be employed in this study. Multi-phase stages of assessment, prototyping and evaluation will occur. These will include processes that include a systematic review, processes of reflection and action as well as validation methods. Given the mixed methods nature of this study, use of NVIVO or ATLAS-ti will be used in the analysis of qualitative data and SPSS for quantitative data. Results Initial results from the systematic review revealed a paucity of scientific literature that documented the objective assessment of hypotonia in children. The review identified the need for more studies with greater methodological rigor in order to determine best practice with respect to the methods used in the assessment of low muscle tone in the paediatric population. Conclusions It is envisaged that this proposal will contribute to a more accurate clinical diagnosis of children with low muscle tone in the absence of a gold standard. We anticipate that the use of this tool will ultimately assist clinicians towards moving to evidenced based practice whilst upholding best practice in the care of children with hypotonia. PMID:25485571

2014-01-01

97

Stature and weight in boys with the XYY syndrome  

Microsoft Academic Search

Stature and weight have been recorded in 11 males with the XYY syndrome from the age of 7 to 13. The mean stature was found to be around the 97.5% upper limit of a normal population, but weight distribution was normal.

Johannes Nielsen; Ursula Friedrich; Eva Zeuthen

1971-01-01

98

Novel treatment of short stature with aromatase inhibitors.  

PubMed

Estrogens have an essential role in the regulation of bone maturation and importantly in the closure of growth plates in both sexes. This prospective, randomized, placebo-controlled study was undertaken to evaluate whether suppression of estrogen synthesis in pubertal boys delays bone maturation and ultimately results in increased adult height. A total of 23 boys with constitutional delay of puberty (CDP) received a conventional, low-dose testosterone treatment for inducing progression of puberty. Eleven of these 23 boys were randomized to receive a specific and potent P450-aromatase inhibitor, letrozole, for suppression of estrogen action, and 12 boys were randomized to receive placebo. Estradiol concentrations in the letrozole-treated boys remained at the pretreatment level during the administration of letrozole, whereas the concentrations increased during the treatment with testosterone alone and during spontaneous progression of puberty. Testosterone concentrations increased in all groups, but during the letrozole treatment, the increase was more than fivefold higher than in the group treated with testosterone alone. The inhibition of estrogen synthesis delayed bone maturation. The slower bone maturation in the boys treated with testosterone and letrozole, despite higher androgen concentrations, than in the boys treated with testosterone indicate that estrogens are more important than androgens in regulation of bone maturation in pubertal boys. During the 18 months follow-up, an increase of 5.1 cm in predicted adult height was observed in the boys who received testosterone and letrozole, but no change was seen in the boys who received testosterone alone or in the untreated boys. This finding indicates that an increase in adult height can be attained in growing adolescent boys by inhibiting of estrogen action. PMID:14623531

Dunkel, Leo; Wickman, Sanna

2003-09-01

99

Short Communication Stature of Juvenile Trees in Response to  

E-print Network

Deciduous Forest of Central India Sonali Saha and Henry F. Howe Abstract: Fire is an integral component-free environ- ments. Tropical deciduous forests in India have experienced annual anthro- pogenic fires of juvenile trees (1.5 m) in a tropical deciduous forest in central India. Plots burnt for 2 consecutive years

Howe, Henry F.

100

Stature estimation from foramen magnum region in Chinese population.  

PubMed

Estimation of stature from body parts plays a vital role in identifying the dead. This study focused on dimensions of the foramen magnum region and examined the relationship between stature and the dimensions of the foramen magnum region in northern and southern Chinese populations. Measurements were taken on the skulls of 276 individuals (all male). Data on 48 individuals from northern China and 140 from southern China were used for further stature reconstruction of the above two populations in China. Statistical analyses indicate that bilateral variation is insignificant for all measurements except maximum length of condyle in the southern Chinese population (p < 0.01) and that the northern and southern populations differ significantly only in the minimum distance between condyles. Linear and multiple regression equations for stature estimation were established. The correlation coefficients between stature and the various measurements differed between the northern and southern Chinese populations. PMID:23879315

Cui, Yaming; Zhang, Jizong

2013-09-01

101

Stature among members of a nineteenth century American Shaker commune.  

PubMed

A set of heights of white men, women and children who lived in a Shaker commune near Albany, New York between 1840 and 1865 is analysed. Since the Shakers practiced celibacy, members were recruited from outside the commune, so that their stature to some extent reflects living standards in the antebellum northeast United States. Despite small sample sizes, some conclusions may be stated. Heights among birth cohorts of adult Shaker men fluctuated within a narrow range along the trends of military samples, but were much shorter than military samples. Successive birth cohorts of adult women became generally shorter over the first decades of the century, associated with the influx of very short urbanites. Shaker women, even in relative terms, were much shorter than Shaker men, which may reflect broader sexual differences in net nutrition. Although in weight-for-height terms entering Shaker children were not undernourished, they were shorter than children in samples for somewhat later American populations. Members of both sexes grew taller with a longer duration of Shaker upbringing. PMID:8447657

Murray, J E

1993-01-01

102

Estimation of stature from upper extremity.  

PubMed

With the increasing frequency of mass disasters, identification of an isolated upper extremity and determination of the stature of the person it belonged to have created problems for investigation of the identity of some victims. Despite a need for such a study, there is a lack of systematic studies to identify fragmented and dismembered human remains. The purpose of this study was to analyze anthropometric relationships between dimensions of the upper extremity and body height. Analyses were based on a sample of middle class male (n = 202) and female (n = 108) Turks residing in Istanbul, Turkey. Five variables were entered into the analyses. For male subjects, forearm length was selected as the first factor, followed by hand length and finally upper arm length. For female subjects, upper arm length was selected first, followed by forearm length and finally hand length. There were also individually calculated formulae for some of these measurements that provided smaller R2 values. The study suggested that estimation of a living height could be made possible by using various dimensions of the upper extremity. One must consider differences between populations to apply such functions to other populations. PMID:16673740

Ozaslan, Abdi; Koç, Sermet; Ozaslan, Inci; Tu?cu, Harun

2006-04-01

103

FISH deletion mapping defines a single location for the Y chromosome stature gene, GCY  

PubMed Central

At least 1 in 1000 males lacks part of the long arm of the Y chromosome. This chromosomal aberration is often associated with short stature and infertility. Deletion mapping and genotype-phenotype analysis have previously defined two non-overlapping critical regions for growth controlling gene(s), GCY(s), on the euchromatic portion of the Y chromosome long arm. These initial mapping assignments were based on the analysis of patients carrying a pure 46,XYq? karyotype as defined by classical cytogenetic karyotyping. Four genes have been assigned to the distal one of the two critical regions. To determine whether one or both of these two critical regions harbours GCY and whether one of the four genes assigned to the distal region is involved in determination of stature, nine adult patients with Yq chromosomal abnormalities were studied in detail. By PCR and FISH analysis, we showed that all patients with a previously defined pure 46,XYq? karyotype are actually mosaics with cells containing an idic(Y) or ring(Y) chromosome in association with 45,X0 cells. This leads us to conclude that (1) FISH is an absolute prerequisite for the correct identification of Y chromosomal rearrangements and (2) only patients with interstitial Y deletions are reliable predictors for the physical location of stature gene(s) on Yq. Our molecular analyses of chromosomes from patients with interstitial Yq deletions finally establishes the proximal interval between markers DYZ3 and DYS11 as the only GCY critical interval. No functional gene has so far been identified in this region adjacent to the centromere.???Keywords: FISH; deletion mapping; Y chromosome stature gene; GCY PMID:10922386

Kirsch, S.; Weiss, B; De Rosa, M; Ogata, T; Lombardi, G; Rappold, G

2000-01-01

104

Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism  

Microsoft Academic Search

Deficiencies of different proteins involved in copper metabolism have been reported to cause human diseases. Well-known syndromes, for example, are Menkes and Wilson diseases. Here we report a patient presenting with congenital cataract, severe muscular hypotonia, developmental delay, sensorineural hearing loss and cytochrome-c oxidase deficiency with repeatedly low copper and ceruloplasmin levels. These findings were suggestive of a copper metabolism

R. Horváth; P. Freisinger; R. Rubio; T. Merl; R. Bax; J. A. Mayr; Shawan; J. Müller-Höcker; D. Pongratz; L. B. Moller; N. Horn; M. Jaksch

2005-01-01

105

Diverse stature estimation formulae applied to a Bosnian population.  

PubMed

Since 1996, the Trotter formulae, developed on American Whites, have been used almost without exception to determine the stature of the population in Bosnia and Herzegovina. In 2002, Ross and Konigsberg presented new formulae for stature estimation for Balkans, using bones from unidentified Bosnian and Croatian males, victims of the recent war. The same year, 2002, in his master thesis, Sarajli? also presented formulae for stature estimation of Bosnian population. The research was undertaken on male cadavers. The cadaver length was measured directly and the length of the long bones was obtained from radiographs. However, none of these formulae were tested on the bones from exhumed persons. This study compares all three methods on a large independent sample in order to determine which formulae provide the most accurate stature estimation for the male population in Bosnia and Herzegovina. The sample for this research consists of long bones (humerus, femur, tibia and fibula) and was obtained from 369 exhumed and identified Bosnian males. Bones from the left side of the body were tested. Not all of them were present in each case: 211 left humeri, 270 left femura, 273 left tibiae and 175 left fibulae. Data about height was recollected by family members. Apart of whole sample, all three methods were applied separately on individuals taller then 180 cm. Of all three tested methods formulae proposed by Sarajli? et al. folowed by Ross and Konigsberg formulae, produced significantly better results in stature estimation of tall persons. PMID:17489749

Sarajli?, Nermin; Cihlarz, Zdenko

2007-05-01

106

Variation in ancient Egyptian stature and body proportions  

Microsoft Academic Search

Stature and the pattern of body propor- tions were investigated in a series of six time-successive Egyptian populations in order to investigate the biological effects on human growth of the development and intensi- fication of agriculture, and the formation of state-level social organization. Univariate analyses of variance were performed to assess differences between the sexes and among various time periods.

Sonia R. Zakrzewski

2003-01-01

107

Coffin Lowry Syndrome  

MedlinePLUS

... by craniofacial (head and facial) and skeletal abnormalities, mental retardation, short stature, and hypotonia. Characteristic facial features may ... may include feeding and respiratory problems, developmental delay, mental retardation, hearing impairment, awkward gait, stimulus-induced drop episodes, ...

108

Down Syndrome Related Muscle Hypotonia: Association with COL6A3 Functional SNP rs2270669  

PubMed Central

Down syndrome (DS), the principal cause for intellectual disability, is also associated with hormonal, immunological, and gastrointestinal abnormalities. Muscle hypotonia (MH) and congenital heart diseases (CHD) are also frequently observed. Collagen molecules are essential components for maintaining muscle integrity and are formed by the assembly of three chains, alpha 1–3. The type VI collagen is crucial for cardiac as well as skeletal muscles. The COL ?1 (VI) and ?2 (VI) chains are encoded by genes located at the 21st chromosome and are expected to have higher dosage in individuals with DS. The ? 3 (VI) chain is encoded by the COL6A3 located at the chromosome 2. We hypothesized that apart from COL6A1 and COL6A2, COL6A3 may also have some role in the MH of subjects with DS. To find out the relevance of COL6A3 in DS associated MH and CHD, we genotyped two SNPs in COL6A3, rs2270669 and rs2270668, in individuals with DS. Subjects with DS were recruited based on the Diagnostic and Statistical Manual for Mental Disorders-IV and having trisomy of the 21st chromosome. Parents of individuals with DS and ethnically matched controls were enrolled for comparison. Informed written consent was obtained for participation. Peripheral blood was used for isolation of genomic DNA. Target genetic loci were studied by DNA sequence analysis. Data obtained was subjected to population – as well as family-based statistical analysis. rs2270668 was found to be non-polymorphic in the studied population. rs2270669 showed significant association of the “C” allele and “CC” genotype with DS probands having MH (P?=?0.02). Computational analysis showed that rs2270669 may induce structural and functional alterations in the COL ?3 (VI). Interaction of COL?3 (VI) with different proteins, crucial for muscle integrity, was also noticed by computational methods. This pioneering study on COL6A3 with DS related MH thus indicates that rs2270669 “C” could be considered as a risk factor for DS related MH. PMID:23626599

Dey, Arpita; Bhowmik, Krishnendu; Chatterjee, Arpita; Chakrabarty, Pit Baran; Sinha, Swagata; Mukhopadhyay, Kanchan

2013-01-01

109

Press release Drug repositioning of an OTC drug for motion sickness, Meclozine, for short  

E-print Network

agent for treating achondroplasia and other diseases with short stature. Abstract Research team therapeutic agent for short stature in patients with achondroplasia, an intractable disease presenting journal PLOS One on December 4th 2013. Achondroplasia (ACH) is one of the most common skeletal dysplasias

Takahashi, Ryo

110

De novo deletion of chromosome 2q24.2 region in a mentally retarded boy with muscular hypotonia.  

PubMed

To date, more than 100 cases with a deletion of chromosome 2q have been identified, although studies reporting small interstitial deletions involving the 2q24.2-q24.3 region are still rare. Here, we have described the genotype and the phenotype of a boy with a 5.3 Mb de novo deletion in this region, identified by SNP array analysis. The selected region included 20 genes, of which 4 are prominently expressed in the brain. Their combined haplo-insufficiency could explain the main clinical features of this patient which included mental retardation, severe hypotonia, joint laxity and mild dysmorphic traits. PMID:21211576

Magri, Chiara; Piovani, Giovanna; Pilotta, Alba; Michele, Traversa; Buzi, Fabio; Barlati, Sergio

2011-01-01

111

Estimation of stature using hand and foot dimensions in Slovak adults.  

PubMed

Hand and foot dimensions used for stature estimation help to formulate a biological profile in the process of personal identification. Morphological variability of hands and feet shows the importance of generating population-specific equations to estimate stature. The stature, hand length, hand breadth, foot length and foot breadth of 250 young Slovak males and females, aged 18-24years, were measured according to standard anthropometric procedures. The data were statistically analyzed using independent t-test for sex and bilateral differences. Pearson correlation coefficient was used for assessing relationship between stature and hand/foot parameters, and subsequently linear regression analysis was used to estimate stature. The results revealed significant sex differences in hand and foot dimensions as well as in stature (p<0.05). There was a positive and statistically significant correlation between stature and all measurements in both sexes (p<0.01). The highest correlation coefficient was found for foot length in males (r=0.71) as well as in females (r=0.63). Regression equations were computed separately for each sex. The accuracy of stature prediction ranged from ±4.6 to ±6.1cm. The results of this study indicate that hand and foot dimension can be used to estimate stature for Slovak for the purpose of forensic field. The regression equations can be of use for stature estimation particularly in cases of dismembered bodies. PMID:25459368

Uhrová, Petra; Be?uš, Radoslav; Masnicová, So?a; Obertová, Zuzana; Kramárová, Daniela; Kyselicová, Klaudia; Dörnhöferová, Michaela; Bodoriková, Silvia; Neš?áková, Eva

2014-10-22

112

Evaluation of juvenile stature and body mass prediction.  

PubMed

This investigation evaluates the performance of juvenile stature (from tibia and radius lengths) and body mass (from breadth of the femoral distal metaphysis) prediction equations based on the Denver Growth Study sample (Ruff C. 2007. Am J Phys Anthropol 133 698-716). The sample used here for evaluation is an independent sample of juveniles brought to the Franklin County (Ohio) Coroner in 1990-1991. The Ohio sample differs somewhat from the Denver reference sample: it includes approximately 25% African-Americans (rather than all European-Americans), a significant number of right limb bones were measured (rather than all left side), it includes a wider range of economic statuses and it includes individuals who died from disease and trauma. As such the composition and measures of the Ohio sample correspond more generally to that seen in skeletal samples so that the accuracy of the estimates from the present sample should approach those found in practical applications of these methods. Results indicate that both juvenile body mass and stature are estimated relatively accurately. Accuracy of body mass estimates for 1-13-year-old juveniles is similar for African-American and European-American males and females. The least accurate estimates are for individuals in the 8-13 years age class (excluding individuals with body mass indices greater than the age specific 95th percentile): n = 9, +/- 2.9 kg, 95% confidence interval 1.4-4.4 kg. Accuracy of stature estimates for 1-17-year-old juveniles is comparable for the tibia and radius and, as with body mass estimates, are similar for African-American and European-American males and females. For combined age, sex, and ancestry groups average accuracies are in the +/-3.5 to +/-6.5 cm range. Some limitations of the methods are discussed. PMID:18350579

Sciulli, Paul W; Blatt, Samantha H

2008-08-01

113

Relationship between sitting-height-to-stature ratio and adiposity in Brazilian women.  

PubMed

Inadequate anthropometric dimensions, such as short leg length or high sitting-height-to-stature ratio (SHSR) in adults, can be considered indices of adverse environmental conditions in early life. Our objective was to describe the association between SHSR, a variable of prepubertal environment, and levels of adiposity in a group of Brazilian women. Six hundred and sixty-nine women aged 20-55 years were studied through a cross-sectional design. Detailed anthropometric measurements were obtained according to standardized procedures. Body mass index (BMI) > or = 30 kg/m2, percent body fat (% BF) measured through bioelectrical impedance >30, and the third tertile of six skinfold sums (SKF sum) were treated as dependent variables. High SHSR was defined as values > or = mean + 1 SD. Data analysis was performed using nonconditional hierarchical multivariate logistic regression, estimating adjusted odds ratios (OR) and 95% confidence intervals (95% CI) for the three dependent variables. Thirty-two percent of women who had high SHSR had low stature, compared with 13.8% in the group with normal SHSR (P < 0.000). After adjustment for age, schooling, total family income, parity, and age of menarche, high SHSR was still associated with BMI > or = 30 kg/m2 (OR, 2.46; 95% CI, 1.31-4.60), % BF >30 (OR, 2.07; 95% CI, 1.11-3.61), and SKF sum (OR, 2.11; 95% CI, 1.33-3.35). These results support the hypothesis that high SHSR, a variable of prepubertal adverse environmental conditions, is independently associated with adiposity in this group of Brazilian women. Responsible factors for high SHSR, other than genetics, should be investigated. PMID:16136531

Velásquez-Meléndez, Gustavo; Silveira, Erika Aparecida; Allencastro-Souza, Priscilla; Kac, Gilberto

2005-01-01

114

Adjustment to the light environment in small-statured forbs as a strategy for complementary resource use in mixtures of grassland species  

PubMed Central

Background and Aims The biological mechanisms of niche complementarity allowing for a stable coexistence of a large number of species in a plant community are still poorly understood. This study investigated how small-statured forbs use environmental niches in light and CO2 to explain their persistence in diverse temperate grasslands. Methods Light and CO2 profiles and the corresponding leaf characteristics of seven small-statured forbs were measured in monocultures and a multi-species mixture within a biodiversity experiment (Jena Experiment) to assess their adjustment to growth conditions in the canopy. Key Results Environmental conditions near the ground varied throughout the season with a substantial CO2 enrichment (>70 µmol mol?1 at 2 cm, >20 µmol mol?1 at 10 cm above soil surface) and a decrease in light transmittance (to <5 % deep in the canopy) with large standing biomass (>500 g d. wt m?2) in the multi-species assemblage. Leaf morphology, biochemistry and physiology of small-statured forbs adjusted to low light in the mixture compared with the monocultures. However, the net carbon assimilation balance during the period of low light only compensated the costs of maintenance respiration, while CO2 enrichment near the ground did not allow for additional carbon gain. Close correlations of leaf mass per area with changes in light availability suggested that small-statured forbs are capable of adjusting to exploit seasonal niches with better light supply for growth and to maintain the carbon metabolism for survival if light transmittance is substantially reduced in multi-species assemblages. Conclusions This study shows that adjustment to a highly dynamic light environment is most important for spatial and seasonal niche separation of small-statured forb species in regularly mown, species-rich grasslands. The utilization of short-period CO2 enrichment developing in dense vegetation close to the ground hardly improves their carbon balance and contributes little to species segregation along environmental niche axes. PMID:21385779

Roscher, Christiane; Kutsch, Werner L.; Kolle, Olaf; Ziegler, Waldemar; Schulze, Ernst-Detlef

2011-01-01

115

The Effects of Muscle Hypotonia and Weakness on Balance: A Study on Prader-Willi and Ehlers-Danlos Syndrome Patients  

ERIC Educational Resources Information Center

Prader-Willi syndrome (PWS) and Ehlers-Danlos syndrome (EDS) are two different genetical disorders both characterized, among other features, by muscular hypotonia. Postural control seems to be impaired in both conditions. The aim of the present study was to quantitatively compare postural control in adult PWS and EDS using stabilometric platform…

Galli, Manuela; Cimolin, Veronica; Vismara, Luca; Grugni, Graziano; Camerota, Filippo; Celletti, Claudia; Albertini, Giorgio; Rigoldi, Chiara; Capodaglio, Paolo

2011-01-01

116

Geography, insolation, and vitamin D in nineteenth century US African-American and white statures  

Microsoft Academic Search

Using a new source of nineteenth century US state prison records I contrast the biological living conditions of comparable African-Americans and whites. Although blacks and whites today in the US reach similar terminal statures, nineteenth century African-American statures were consistently shorter than those of whites. Greater insolation (vitamin D production) is shown to be associated with taller black and white

Scott Alan Carson

2009-01-01

117

De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea  

PubMed Central

Clinical whole-exome sequencing (WES) for identification of mutations leading to Mendelian disease has been offered to the medical community since 2011. Clinically undiagnosed neurological disorders are the most frequent basis for test referral, and currently, approximately 25% of such cases are diagnosed at the molecular level. To date, there are approximately 4,000 “known” disease-associated loci, and many are associated with striking dysmorphic features, making genotype-phenotype correlations relatively straightforward. A significant fraction of cases, however, lack characteristic dysmorphism or clinical pathognomonic traits and are dependent upon molecular tests for definitive diagnoses. Further, many molecular diagnoses are guided by recent gene-disease association discoveries. Hence, there is a critical interplay between clinical testing and research leading to gene-disease association discovery. Here, we describe four probands, all of whom presented with hypotonia, intellectual disability, global developmental delay, and mildly dysmorphic facial features. Three of the four also had sleep apnea. Each was a simplex case without a remarkable family history. Using WES, we identified AHDC1 de novo truncating mutations that most likely cause this genetic syndrome. PMID:24791903

Xia, Fan; Bainbridge, Matthew N.; Tan, Tiong Yang; Wangler, Michael F.; Scheuerle, Angela E.; Zackai, Elaine H.; Harr, Margaret H.; Sutton, V. Reid; Nalam, Roopa L.; Zhu, Wenmiao; Nash, Margot; Ryan, Monique M.; Yaplito-Lee, Joy; Hunter, Jill V.; Deardorff, Matthew A.; Penney, Samantha J.; Beaudet, Arthur L.; Plon, Sharon E.; Boerwinkle, Eric A.; Lupski, James R.; Eng, Christine M.; Muzny, Donna M.; Yang, Yaping; Gibbs, Richard A.

2014-01-01

118

Determination of stature from cephalo-facial dimensions in a North Indian population.  

PubMed

A forensic medicine specialist, while a conducting medico-legal autopsy, is often asked to opine about the identity of the deceased in unknown fragmentary and dismembered remains. Determination of stature is an important aspect in establishing identity in such cases. Sometimes, cephalo-facial remains are brought for postmortem and forensic examination. The aim of the present study was to estimate the stature from cephalo-facial dimensions in a sample of 252 Koli male adolescents from North India. As a part of Indian caste system, Kolis are an endogamous group of North India. Along with stature, sixteen cephalo-facial measurements were taken on each subject. The findings suggest that all the cephalo-facial measurements are significantly correlated with stature (P<0.001, P<0.01); the measurements of the cephalic region have strong correlation with stature than those of the facial region. This was also supported by the regression analysis, which shows that the cephalic measurements give better prediction of stature. Reliability of the regression formulae was checked by comparing the estimated and actual stature within the same sample (genetically homogeneous population, n=252) and in another sample taken from a mixed population of North India (genetically heterogeneous population, n=90). PMID:17306595

Krishan, Kewal; Kumar, Raj

2007-05-01

119

Estimation of stature from hand and handprint dimensions in a Western Australian population.  

PubMed

As part of the formulation of a biological profile, the estimation of stature is an important element that provides useful data towards narrowing the pool of potentially matching identities. Recent literature has demonstrated that anthropometry of the hand has considerable promise for the accurate estimation of stature; although the technique has only been tested in a relatively limited range of populations. The aim of the present study, therefore, is to assess the reliability and accuracy of using anthropometric hand measurements for the estimation of stature in a contemporary Western Australian population; we also evaluate whether stature can be accurately estimated from the measurement of handprints. The study sample comprises 91 male and 110 female adult individuals. Following the measurement of stature, seven measurements are taken on each hand and its corresponding print. To establish the reliability of acquiring these measurements, a precision study was performed prior to primary data collection. Measurements data are analysed using basic univariate statistics and simple and multiple regression analyses. Our results show that the degree of measurement error and reliability are well within accepted standards. Stature prediction accuracy using hand and handprint measurements ranges from ±4.74 to 6.53cm, which is comparable to established skeletal standards for the hand. This study provides new forensic standards for the estimation of stature in a Western Australian population and also demonstrates that the measurement and analysis of handprints affords a novel source of profiling data that is statistically quantified. PMID:21993056

Ishak, Nur-Intaniah; Hemy, Naomi; Franklin, Daniel

2012-03-10

120

Patterns of Ancestry, Signatures of Natural Selection, and Genetic Association with Stature in Western African Pygmies  

PubMed Central

African Pygmy groups show a distinctive pattern of phenotypic variation, including short stature, which is thought to reflect past adaptation to a tropical environment. Here, we analyze Illumina 1M SNP array data in three Western Pygmy populations from Cameroon and three neighboring Bantu-speaking agricultural populations with whom they have admixed. We infer genome-wide ancestry, scan for signals of positive selection, and perform targeted genetic association with measured height variation. We identify multiple regions throughout the genome that may have played a role in adaptive evolution, many of which contain loci with roles in growth hormone, insulin, and insulin-like growth factor signaling pathways, as well as immunity and neuroendocrine signaling involved in reproduction and metabolism. The most striking results are found on chromosome 3, which harbors a cluster of selection and association signals between approximately 45 and 60 Mb. This region also includes the positional candidate genes DOCK3, which is known to be associated with height variation in Europeans, and CISH, a negative regulator of cytokine signaling known to inhibit growth hormone-stimulated STAT5 signaling. Finally, pathway analysis for genes near the strongest signals of association with height indicates enrichment for loci involved in insulin and insulin-like growth factor signaling. PMID:22570615

Jarvis, Joseph P.; Ferwerda, Bart; Froment, Alain; Bodo, Jean-Marie; Beggs, William; Hoffman, Gabriel; Mezey, Jason; Tishkoff, Sarah A.

2012-01-01

121

Anthropometric measurements of the forearm and their correlation with the stature of Bengali adult Muslim females.  

PubMed

Stature or body height is one of the most important and useful anthropometric parameter that determine the physical identity of an individual. The study was done to estimate stature from the forearm length on one hundred and fifty Bengali adult Muslim females. This descriptive cross sectional study was done in the department of Anatomy, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh. One hundred and fifty Bengali adult Muslim female was collected from BSMMU & some urban region of Dhaka. Measurement of stature and forearm length of right and left side was taken with a standard anthropometer and a slide caliper respectively. The present study showed significant (p<0.001) positive correlation between the stature and forearm length. PMID:20639830

Laila, S Z; Begum, J A; Ferdousi, R; Parveen, S; Nurunnobi, A M; Yesmin, F

2010-07-01

122

The Y specific growth gene(s): how does it promote stature?  

PubMed Central

Although the presence of a Y specific growth gene(s) (Y growth gene(s) on Yq has widely been accepted, it remains unknown how this gene promotes stature. In this report, we discuss the growth pattern in normal boys and girls and in patients with growth disorders informative for the Y growth gene(s). The results suggest that the Y growth gene(s) augments statural growth by controlling the sex steroid independent childhood growth pattern. PMID:9138158

Ogata, T; Matsuo, N

1997-01-01

123

A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly.  

PubMed

Most reported mutations in the FGFR3 gene are dominant activating mutations that cause a variety of short-limbed bone dysplasias including achondroplasia and syndromic craniosynostosis. We report the phenotype and underlying molecular abnormality in two brothers, born to first cousin parents. The clinical picture is characterized by tall stature and severe skeletal abnormalities leading to inability to walk, with camptodactyly, arachnodactyly, and scoliosis. Whole exome sequencing revealed a homozygous novel missense mutation in the FGFR3 gene in exon 12 (NM_000142.4:c.1637C>A: p.(Thr546Lys)). The variant is found in the kinase domain of the protein and is predicted to be pathogenic. It is located near a known hotspot for hypochondroplasia. This is the first report of a homozygous loss-of-function mutation in FGFR3 in human that results in a skeletal overgrowth syndrome. PMID:24864036

Makrythanasis, Periklis; Temtamy, Samia; Aglan, Mona S; Otaify, Ghada A; Hamamy, Hanan; Antonarakis, Stylianos E

2014-08-01

124

PHOG, a candidate gene for involvement in the short stature of Turner syndrome  

Microsoft Academic Search

DDBJ\\/EMBL\\/GenBank accession no. U89331 The abnormalities seen in Turner syndrome (mono- somy X) presumably result from haploinsufficiency of certain genes on the X chromosome. Gene dosage considerations lead to the prediction that the culpable genes escape X inactivation and have functional ho- mologs on the Y chromosome. Among the genes with these characteristics are those residing in the pseu- doautosomal

Jay W. Ellison; Zabihullah Wardak; Marian F. Young; Pamela Gehron Robey; Marion Laig-Webster; Winston Chiong

1997-01-01

125

Trisomy 18 mosaicism in a 15-year-old boy with normal intelligence and short stature  

SciTech Connect

We report a 15-year-old boy with mosaicism for trisomy 18 and normal intelligence. Approximately 50% of his leukocytes are trisomic. This patient represents the sixth report of an individual with trisomy 18 mosaicism and normal intelligence. Those individuals with trisomy 18 mosaicism and normal intelligence need to be advised of increased risks for offspring with chromosome abnormalities and offered the option of prenatal diagnosis for cytogenetic anomalies. 6 refs.

NONE

1995-05-08

126

Identifying biological pathways that underlie primordial short stature using network analysis  

PubMed Central

Mutations in CUL7, OBSL1 and CCDC8, leading to disordered ubiquitination, cause one of the commonest primordial growth disorders, 3-M syndrome. This condition is associated with i) abnormal p53 function, ii) GH and/or IGF1 resistance, which may relate to failure to recycle signalling molecules, and iii) cellular IGF2 deficiency. However the exact molecular mechanisms that may link these abnormalities generating growth restriction remain undefined. In this study, we have used immunoprecipitation/mass spectrometry and transcriptomic studies to generate a 3-M ‘interactome’, to define key cellular pathways and biological functions associated with growth failure seen in 3-M. We identified 189 proteins which interacted with CUL7, OBSL1 and CCDC8, from which a network including 176 of these proteins was generated. To strengthen the association to 3-M syndrome, these proteins were compared with an inferred network generated from the genes that were differentially expressed in 3-M fibroblasts compared with controls. This resulted in a final 3-M network of 131 proteins, with the most significant biological pathway within the network being mRNA splicing/processing. We have shown using an exogenous insulin receptor (INSR) minigene system that alternative splicing of exon 11 is significantly changed in HEK293 cells with altered expression of CUL7, OBSL1 and CCDC8 and in 3-M fibroblasts. The net result is a reduction in the expression of the mitogenic INSR isoform in 3-M syndrome. From these preliminary data, we hypothesise that disordered ubiquitination could result in aberrant mRNA splicing in 3-M; however, further investigation is required to determine whether this contributes to growth failure. PMID:24711643

Hanson, Dan; Stevens, Adam; Murray, Philip G; Black, Graeme C M; Clayton, Peter E

2014-01-01

127

Age-related stature and linear body segments in children with X-linked hypophosphatemic rickets.  

PubMed

Children with X-linked hypophosphatemic rickets (XLH) are prone to severe stunting. A multicenter mixed-longitudinal study was conducted to assess age-related stature, sitting height, arm and leg length in XLH patients on continuous treatment with phosphate and calcitriol. Mean standard deviation scores (SDS) for all body dimensions were markedly reduced and differed significantly among each other at the initial and subsequent evaluations (baseline: stature -2.48 SDS; sitting height -0.99 SDS; arm length -1.81 SDS; leg length -2.90 SDS; each p<0.001). A strong association between stature and leg length (r (2)=0.87, p<0.001) was noted. Leg length SDS decreased progressively during childhood (2-9 years) and adolescence (12-15 years; each p<0.001). Sitting height SDS increased significantly during late childhood, indicating uncoupled growth of the legs and trunk and resulting in an ever increasing sitting height index (i.e. ratio of sitting height to stature; age 2 years 2.0 SDS; age 10 years 3.3 SDS; p<0.001) that was associated with the degree of stunting (r (2)=0.314, p<0.001). Mean serum phosphate levels were positively associated with stature and leg length, but negatively with sitting height index. Based on these results, we can conclude that growth of the legs and trunk is uncoupled in XLH and related to serum phosphate levels. PMID:21120538

Zivi?njak, Miroslav; Schnabel, Dirk; Billing, Heiko; Staude, Hagen; Filler, Guido; Querfeld, Uwe; Schumacher, Marius; Pyper, Anke; Schröder, Carmen; Brämswig, Jürgen; Haffner, Dieter

2011-02-01

128

Blood pressure and stature in Helicobacter pylori positive and negative persons  

PubMed Central

To evaluate vital signs and body indices in Helicobacter pylori (H. pylori) positive and negative persons. A total of 22 centres entered the study. They were spread over the whole country, corresponding well to the geographical distribution of the Czech population. A total of 1818 subjects (aged 5-98 years) took part in the study, randomly selected out of 38147 subjects. H. pylori infection was investigated by means of a 13C-urea breath test. Data on height, weight, systolic and diastolic blood pressure and heart rate were collected at the clinics of general practitioners. The overall prevalence of H. pylori infection was 30.4% (402/1321) in adults (? 18 year-old) and 5.2% (26/497) in children and adolescents (? 17 year-old). Once adjusted for age and gender, only a difference in body mass index remained statistically significant with H. pylori positive adults showing an increase of 0.6 kg/m2 in body mass index. Once adjusted for age and gender, we found a difference in height between H. pylori positive and H. pylori negative children and adolescents. On further adjustment for place of residence, this difference became statistically significant, with H. pylori positive children and adolescents being on average 3.5 cm shorter. H. pylori positive adults were significantly older compared to H. pylori negative subjects. Once adjusted for age and gender, H. pylori infection had no impact on body weight, body mass index and vital signs either in adults or children and adolescents. Chronic H. pylori infection appeared to be associated with short stature in children. H. pylori infection did not influence blood pressure, body weight and body mass index either in adults or children and adolescents. PMID:24914321

Kopacova, Marcela; Koupil, Ilona; Seifert, Bohumil; Fendrichova, Miluska Skodova; Spirkova, Jana; Vorisek, Viktor; Rejchrt, Stanislav; Douda, Tomas; Tacheci, Ilja; Bures, Jan

2014-01-01

129

Blood pressure and stature in Helicobacter pylori positive and negative persons.  

PubMed

To evaluate vital signs and body indices in Helicobacter pylori (H. pylori) positive and negative persons. A total of 22 centres entered the study. They were spread over the whole country, corresponding well to the geographical distribution of the Czech population. A total of 1818 subjects (aged 5-98 years) took part in the study, randomly selected out of 38147 subjects. H. pylori infection was investigated by means of a 13C-urea breath test. Data on height, weight, systolic and diastolic blood pressure and heart rate were collected at the clinics of general practitioners. The overall prevalence of H. pylori infection was 30.4% (402/1321) in adults (? 18 year-old) and 5.2% (26/497) in children and adolescents (? 17 year-old). Once adjusted for age and gender, only a difference in body mass index remained statistically significant with H. pylori positive adults showing an increase of 0.6 kg/m(2) in body mass index. Once adjusted for age and gender, we found a difference in height between H. pylori positive and H. pylori negative children and adolescents. On further adjustment for place of residence, this difference became statistically significant, with H. pylori positive children and adolescents being on average 3.5 cm shorter. H. pylori positive adults were significantly older compared to H. pylori negative subjects. Once adjusted for age and gender, H. pylori infection had no impact on body weight, body mass index and vital signs either in adults or children and adolescents. Chronic H. pylori infection appeared to be associated with short stature in children. H. pylori infection did not influence blood pressure, body weight and body mass index either in adults or children and adolescents. PMID:24914321

Kopacova, Marcela; Koupil, Ilona; Seifert, Bohumil; Fendrichova, Miluska Skodova; Spirkova, Jana; Vorisek, Viktor; Rejchrt, Stanislav; Douda, Tomas; Tacheci, Ilja; Bures, Jan

2014-05-21

130

Pubertal course of persistently short children born small for gestational age (SGA) compared with idiopathic short children born appropriate for gestational age (AGA)  

Microsoft Academic Search

Objective: Few data are available on the pubertal development of children born small for gestational age (SGA) who fail to show catch-up growth. Design: A longitudinal analysis compared the pubertal course of persistently short children born SGA compared to children with idiopathic short stature who were appropriate for gestational age (AGA). One hundred and twenty-eight short children (height SDS ,2

Liora Lazar; Uri Pollak; Ofra Kalter-Leibovici; Athalia Pertzelan; Moshe Phillip

2003-01-01

131

Stature and its components in healthy children, sexual dimorphism and age related changes.  

PubMed Central

This paper reports a cross sectional study of three components of stature (suprapelvic height, pelvic height and subischial height) for a sample of 585 healthy children aged 8-15 years. Data are also given for stature, sitting height and bi-iliac width. Sexual dimorphism is revealed in both suprapelvic height and pelvic height. In girls, the increase in pelvic height is detected before the increase in bi-iliac width and before the appearance of secondary sexual characteristics. The data provide the first 'standards' for each of suprapelvic height and pelvic height for clinical use. PMID:4077709

Nicolopoulos, K S; Burwell, R G; Webb, J K

1985-01-01

132

Compound heterozygous microdeletion of chromosome 15q13.3 region in a child with hypotonia, impaired vision, and global developmental delay.  

PubMed

Homozygous or compound heterozygous microdeletion of 15q13.3 region is a rare but clinically recognizable syndrome manifested by profound intellectual disability, muscular hypotonia, intractable seizures, and visual impairment. We identified a compound heterozygous 15q13.3 microdeletion in a 23-month-old girl with global developmental delay, generalized muscular hypotonia, and visual dysfunction. The larger deletion was approximately 1.28?Mb in size and contained seven genes including the TRPM1 and CHRNA7, while the smaller deletion was estimated to be 410?Kb in size and contained only CHRNA7. Compound heterozygous 15q13.3 microdeletion is extremely rare and to the best of our knowledge only two such patients have been reported in literature thus far. The findings in our patient suggest that the pathogenesis of visual dysfunction, which is a consistent finding in homozygous/compound heterozygous 15q13.3 microdeletion depends upon the size of microdeletion. Homozygous loss of TRPM1 likely causes retinal dysfunction while homozygous loss of CHRNA7 alone may lead to visual impairment by cortical mechanisms. PMID:24700535

Prasun, Pankaj; Hankerd, Michael; Kristofice, Melissa; Scussel, Lindsey; Sivaswamy, Lalitha; Ebrahim, Salah

2014-07-01

133

Genome-wide association study identifies two novel loci containing FLNB and SBF2 genes underlying stature variation  

Microsoft Academic Search

Human stature, as an important physical index in clinical practice and a usual covariate in gene mapping of complex disorders, is a highly heritable complex trait. To identify specific genes underlying stature, a genome-wide association study was performed in 1000 unrelated homogeneous Caucasian subjects using Affymetrix 500K arrays. A group of seven contiguous markers in the region of SBF2 gene

Shu-Feng Lei; Li-Jun Tan; Xiao-Gang Liu; Liang Wang; Han Yan; Yan-Fang Guo; Yao-Zhong Liu; Dong-Hai Xiong; Jian Li; Tie-Lin Yang; Xiang-Ding Chen; Yan Guo; Fei-Yan Deng; Yin-Ping Zhang; Xue-Zhen Zhu; Shawn Levy; Christopher J. Papasian; James J. Hamilton; Robert R. Recker; Hong-Wen Deng

2009-01-01

134

Genome-wide association study identifies two novel loci containing FLNB and SBF2 genes underlying stature variation  

PubMed Central

Human stature, as an important physical index in clinical practice and a usual covariate in gene mapping of complex disorders, is a highly heritable complex trait. To identify specific genes underlying stature, a genome-wide association study was performed in 1000 unrelated homogeneous Caucasian subjects using Affymetrix 500K arrays. A group of seven contiguous markers in the region of SBF2 gene (Set-binding factor 2) are associated with stature, significantly so at the genome-wide level after false discovery rate (FDR) correction (FDR q = 0.034–0.042). Three SNPs in another SNP group in the Filamin B (FLNB) gene were also associated with stature, significantly so with FDR q = 0.042–0.048. In follow-up independent replication studies, rs10734652 in the SBF2 gene was significantly (P = 0.036) and suggestively (P = 0.07) associated with stature in Caucasian families and 1306 unrelated Caucasian subjects, respectively, and rs9834312 in the FLNB gene was also associated with stature in such two independent Caucasian populations (P = 0.008 in unrelated sample and P = 0.049 in family sample). Particularly, additional significant replication association signals were detected in Chinese, an ethnic population different from Caucasian, between rs9834312 and stature in 619 unrelated northern Chinese subjects (P = 0.017), as well as between rs10734652 and stature in 2953 unrelated southern Chinese subjects (P = 0.048). This study also provides additional replication evidence for some of the already published stature loci. These results, together with the known functional relevance of the SBF2 and FLNB genes to skeletal linear growth and bone formation, support that two regions containing FLNB and SBF2 genes are two novel loci underlying stature variation. PMID:19039035

Lei, Shu-Feng; Tan, Li-Jun; Liu, Xiao-Gang; Wang, Liang; Yan, Han; Guo, Yan-Fang; Liu, Yao-Zhong; Xiong, Dong-Hai; Li, Jian; Yang, Tie-Lin; Chen, Xiang-Ding; Guo, Yan; Deng, Fei-Yan; Zhang, Yin-Ping; Zhu, Xue-Zhen; Levy, Shawn; Papasian, Christopher J.; Hamilton, James J.; Recker, Robert R.; Deng, Hong-Wen

2009-01-01

135

Genome-wide association study identifies two novel loci containing FLNB and SBF2 genes underlying stature variation.  

PubMed

Human stature, as an important physical index in clinical practice and a usual covariate in gene mapping of complex disorders, is a highly heritable complex trait. To identify specific genes underlying stature, a genome-wide association study was performed in 1000 unrelated homogeneous Caucasian subjects using Affymetrix 500K arrays. A group of seven contiguous markers in the region of SBF2 gene (Set-binding factor 2) are associated with stature, significantly so at the genome-wide level after false discovery rate (FDR) correction (FDR q = 0.034-0.042). Three SNPs in another SNP group in the Filamin B (FLNB) gene were also associated with stature, significantly so with FDR q = 0.042-0.048. In follow-up independent replication studies, rs10734652 in the SBF2 gene was significantly (P = 0.036) and suggestively (P = 0.07) associated with stature in Caucasian families and 1306 unrelated Caucasian subjects, respectively, and rs9834312 in the FLNB gene was also associated with stature in such two independent Caucasian populations (P = 0.008 in unrelated sample and P = 0.049 in family sample). Particularly, additional significant replication association signals were detected in Chinese, an ethnic population different from Caucasian, between rs9834312 and stature in 619 unrelated northern Chinese subjects (P = 0.017), as well as between rs10734652 and stature in 2953 unrelated southern Chinese subjects (P = 0.048). This study also provides additional replication evidence for some of the already published stature loci. These results, together with the known functional relevance of the SBF2 and FLNB genes to skeletal linear growth and bone formation, support that two regions containing FLNB and SBF2 genes are two novel loci underlying stature variation. PMID:19039035

Lei, Shu-Feng; Tan, Li-Jun; Liu, Xiao-Gang; Wang, Liang; Yan, Han; Guo, Yan-Fang; Liu, Yao-Zhong; Xiong, Dong-Hai; Li, Jian; Yang, Tie-Lin; Chen, Xiang-Ding; Guo, Yan; Deng, Fei-Yan; Zhang, Yin-Ping; Zhu, Xue-Zhen; Levy, Shawn; Papasian, Christopher J; Hamilton, James J; Recker, Robert R; Deng, Hong-Wen

2009-05-01

136

A metastable DWARF1 epigenetic mutant affecting plant stature in rice  

E-print Network

A metastable DWARF1 epigenetic mutant affecting plant stature in rice Kotaro Miuraa , Masakazu (received for review February 24, 2009) Epigenetic mutations confer heritable changes in gene expression sequence alterations. Compared with other known epigenetic silenced loci in plants such as paramutable

Jacobsen, Steve

137

Estimation of stature using anthropometry of feet and footprints in a Western Australian population.  

PubMed

The aim of the study is to develop accurate stature estimation models for a contemporary Western Australian population from measurements of the feet and footprints. The sample comprises 200 adults (90 males, 110 females). A stature measurement, three linear measurements from each foot and bilateral footprints were collected from each subject. Seven linear measurements were then extracted from each print. Prior to data collection, a precision test was conducted to determine the repeatability of measurement acquisition. The primary data were then analysed using a range of parametric statistical tests. Results show that all foot and footprint measurements were significantly (P < 0.01-0.001) correlated with stature and estimation models were formulated with a prediction accuracy of ± 4.673 cm to ± 6.926 cm. Left foot length was the most accurate single variable in the simple linear regressions (males: ± 5.065 cm; females: ± 4.777 cm). This study provides viable alternatives for estimating stature in a Western Australian population that are equivalent to established standards developed from foot bones. PMID:23756512

Hemy, Naomi; Flavel, Ambika; Ishak, Nur-Intaniah; Franklin, Daniel

2013-07-01

138

Human fertility variation, size-related obstetrical performance and the evolution of sexual stature dimorphism  

Microsoft Academic Search

In several animal species, change in sexual size dimorphism is a correlated response to selection on fecundity. In humans, diˇ erent hypotheses have been proposed to explain the variation of sexual dimorphism in stature, but no consensus has yet emerged. In this paper, we evaluate from a theoretical and an empiricalpoint of view the hypothesis that the extent of sexual

J.-F. Guegan; A. T. Teriokhin; F. Thomas

2000-01-01

139

Stature of caucasian elderly estimated by scapula length from Chest X-ray.  

PubMed

Stature is an important biological characteristic considered in the clinical activities. Height (h)is frequently hard to measure in the elderly population or in people with skeletal deformities and vertebral fractures. Furthermore it represents also a key point in forensic evaluations. Our aim was to provide an equation in order to predict human height based on the Longitudinal Scapular Diameter(LSD) measured through a Chest X-ray (CX) in an elderly Italian population. We enrolled 60 patients (age > 65 years) who underwent a standard CX. An average LSD was obtained on the basis of the measurements of left and right scapula. Stature was measured in standard conditions by a calibrated stadiometer in all patients. A linear predictive model was employed to estimate stature by LSD. The predictive equation for stature estimation [cm] from LSD [cm] was: h=2.969*LSD+116.7. The linear regression was significant (p <; 0.01) and the correlation coefficient was 0.75. In order to assess the performance of the proposed model, we compared our results with the values obtained in the same population with a largely employed approach, i.e., the Chumlea's method. Considering the whole population, the mean error using LSD equation was 4.4 cm vs 4.6 cm from Chumlea's. The proposed linear relationship between human height and LSD measured by CX can be considered valid in elderly patients, showing comparable results to the Chumlea's method. PMID:25570153

Giurazza, F; Frauenfelder, G; Schena, E; Saccomandi, P; Cazzato, R L; Zobel, B Beomonte

2014-08-01

140

Features of Two Cases with 18q Deletion Syndrome  

PubMed Central

The 18q Deletion syndrome is seen in 1 out of 10 000 live births. The main features of the syndrome are short stature, hearing loss, hypotonia, mental retardation, endocrine disorders and autoimmunity. Here, we present 2 patients with this syndrome admitted to our clinic who were found to have insulin resistance in addition to mental retardation, short stature, autoimmune thyroiditis and hearing loss. The need to perform a karyogram analysis in cases presenting with these features is emphasized. PMID:24637311

Özsu, Elif; Ye?iltepe Mutlu, Gül; Büte Yüksel, Ay?egül; Hatun, ?ükrü

2014-01-01

141

Features of two cases with 18q deletion syndrome.  

PubMed

The 18q Deletion syndrome is seen in 1 out of 10 000 live births. The main features of the syndrome are short stature, hearing loss, hypotonia, mental retardation, endocrine disorders and autoimmunity. Here, we present 2 patients with this syndrome admitted to our clinic who were found to have insulin resistance in addition to mental retardation, short stature, autoimmune thyroiditis and hearing loss. The need to perform a karyogram analysis in cases presenting with these features is emphasized. PMID:24637311

Özsu, Elif; Mutlu, Gül Ye?iltepe; Yüksel, Ay?egül Bütel; Hatun, ?ükrü

2014-01-01

142

A male-specific quantitative trait locus on 1p21 controlling human stature  

PubMed Central

Background: Many genome-wide scans aimed at complex traits have been statistically underpowered due to small sample size. Combining data from several genome-wide screens with comparable quantitative phenotype data should improve statistical power for the localisation of genomic regions contributing to these traits. Objective: To perform a genome-wide screen for loci affecting adult stature by combined analysis of four previously performed genome-wide scans. Methods: We developed a web based computer tool, Cartographer, for combining genetic marker maps which positions genetic markers accurately using the July 2003 release of the human genome sequence and the deCODE genetic map. Using Cartographer, we combined the primary genotype data from four genome-wide scans and performed variance components (VC) linkage analyses for human stature on the pooled dataset of 1417 individuals from 277 families and performed VC analyses for males and females separately. Results: We found significant linkage to stature on 1p21 (multipoint LOD score 4.25) and suggestive linkages on 9p24 and 18q21 (multipoint LOD scores 2.57 and 2.39, respectively) in males-only analyses. We also found suggestive linkage to 4q35 and 22q13 (multipoint LOD scores 2.18 and 2.85, respectively) when we analysed both females and males and to 13q12 (multipoint LOD score 2.66) in females-only analyses. Conclusions: We strengthened the evidence for linkage to previously reported quantitative trait loci (QTL) for stature and also found significant evidence of a novel male-specific QTL on 1p21. Further investigation of several interesting candidate genes in this region will help towards characterisation of this first sex-specific locus affecting human stature. PMID:15827092

Sammalisto, S; Hiekkalinna, T; Suviolahti, E; Sood, K; Metzidis, A; Pajukanta, P; Lilja, H; Soro-Paavonen, A; Taskinen, M; Tuomi, T; Almgren, P; Orho-Melander, M; Groop, L; Peltonen, L; Perola, M

2005-01-01

143

Physical stature decline and the health status of the elderly population in England.  

PubMed

Few research papers in economics have examined the extent, causes or consequences of physical stature decline in aging populations. Using repeated observations on objectively measured data from the English Longitudinal Study of Aging (ELSA), we document that reduction in height is an important phenomenon among respondents aged 50 and over. On average, physical stature decline occurs at an annual rate of between 0.08% and 0.10% for males, and 0.12% and 0.14% for females-which approximately translates into a 2-4cm reduction in height over the life course. Since height is commonly used as a measure of long-run health, our results demonstrate that failing to take age-related height loss into account substantially overstates the health advantage of older birth cohorts relative to their younger counterparts. We also show that there is an absence of consistent predictors of physical stature decline at the individual level. However, we demonstrate how deteriorating health and reductions in height occur simultaneously. We document that declines in muscle mass and bone density are likely to be the mechanism through which these effects are operating. If this physical stature decline is determined by deteriorating health in adulthood, the coefficient on measured height when used as an input in a typical empirical health production function will be affected by reverse causality. While our analysis details the inherent difficulties associated with measuring height in older populations, we do not find that significant bias arises in typical empirical health production functions from the use of height which has not been adjusted for physical stature decline. Therefore, our results validate the use of height among the population aged over 50. PMID:24508050

Fernihough, Alan; McGovern, Mark E

2015-01-01

144

Proximal 10q duplication in a child with severe central hypotonia characterized by array-comparative genomic hybridization: A case report and review of the literature  

PubMed Central

Proximal 10q duplication is a well-defined but rare genetic syndrome. Duplication of proximal segments of the long arm of chromosome 10 results in a pattern of malformations, which are distinct from those of the more common distal 10q trisomy syndrome. The present study describes the case of a boy with phenotypic abnormalities (severe central hypotonia, mild ataxia, moderate developmental delay and mild dysmorphic features), due to duplication of chromosome region, 10q11.21?q11.22, which was characterized by the array-comparative genomic hybridization (CGH) technique. The phenotypic findings were compared with those in eight additional similar published cases. Major similarities have emerged, suggesting a likely minimal critical region. However, only detailed characterization of additional cases may provide firm conclusions. PMID:24669257

MANOLAKOS, EMMANOUIL; VETRO, ANNALISA; GARAS, ANTONIOS; THOMAIDIS, LORETTA; KEFALAS, KONSTANTINOS; KITSOS, GEORGE; ZIEGLER, MONIKA; LIEHR, THOMAS; ZUFFARDI, ORSETTA; PAPOULIDIS, IOANNIS

2014-01-01

145

X-linked mental retardation with neonatal hypotonia in a French family (MRX15): Gene assignment to Xp11.22-Xp21.1  

SciTech Connect

Linkage analysis was performed in a family with non-specific X-linked mental retardation (MRX 15). Hypotonia in infancy was the most remarkable physical manifestation. The severity of mental deficiency was variable among the patients, but all of them had poor or absent speech. Significant lod scores at a recombination fraction of zero were detected with the marker loci DXS1126, DXS255, and DXS573 (Zmax = 2.01) and recombination was observed with the two flanking loci DXS164 (Xp21.1) and DXS988 (Xp11.22), identifying a 17 cM interval. This result suggests a new gene localization in the proximal Xp region. In numerous families with non-specific X-linked mental retardation (MRX), the corresponding gene has been localized to the paracentromeric region in which a low recombination rate impairs the precision of mapping. 58 refs., 3 figs., 5 tabs.

Raynaud, M.; Dessay, B.; Ayrault, A.D. [INSERM, Marseille (France)] [and others] [INSERM, Marseille (France); and others

1996-07-12

146

X-linked mental retardation with neonatal hypotonia in a French family (MRX15): gene assignment to Xp11.22-Xp21.1.  

PubMed

Linkage analysis was performed in a family with non-specific X-linked mental retardation (MRX 15). Hypotonia in infancy was the most remarkable physical manifestation. The severity of mental deficiency was variable among the patients, but all of them had poor or absent speech. Significant lod scores at a recombination fraction of zero were detected with the marker loci DXS1126, DXS255, and DXS573 (Zmax = 2.01) and recombination was observed with the two flanking loci DXS164 (Xp21.1) and DXS988 (Xp11.22), identifying a 17 cM interval. This result suggests a new gene localization in the proximal Xp region. In numerous families with non-specific X-linked mental retardation (MRX), the corresponding gene has been localized to the paracentromeric region in which a low recombination rate impairs the precision of mapping. PMID:8826458

Raynaud, M; Gendrot, C; Dessay, B; Moncla, A; Ayrault, A D; Moizard, M P; Toutain, A; Briault, S; Villard, L; Ronce, N; Moraine, C

1996-07-12

147

Low Incidence of Pathology Detection and High Cost of Screening in the Evaluation of Asymptomatic Short Children  

PubMed Central

Objective To determine the incidence of pathology during routine screening of healthy short children, testing adherence to a consensus statement on the diagnosis and treatment of children with idiopathic short stature, and the cost per identified diagnosis resulting from comprehensive screening. Study design Retrospective chart review of 1373 consecutive short stature referrals evaluated at the Cincinnati Children's Hospital Medical Center Pediatric Endocrinology Clinic between 2008 and 2011. We identified 235 patients with a height of <3rd percentile, negative history and review of systems, and normal physical examination. Outcome measures were incidence of pathology detection, diagnostic group characteristics, clinicians' adherence to testing guidelines, and screening costs. ANOVA and ?2 were used to analyze the data. Results Nearly 99% of patients were diagnosed as possible variants of normal growth: 23% with familial short stature, 41% with constitutional delay of growth and maturation, and 36% with idiopathic short stature. The incidence of newly diagnosed pathology was 1.3%: 1 patient with biopsy-proved celiac disease, 1 with unconfirmed celiac disease, and 1 with potential insulin-like growth factor I receptor defect. On average, each patient had 64.3% of the recommended tests for age and sex; 2.1% of patients had all of the recommended testing. The total screening tests costs were $315 321, yielding $105 107 per new diagnosis entertained. Conclusions Healthy short children do not warrant nondirected, comprehensive screening. Future guidelines for evaluating short stature should include patient-specific testing. PMID:23706358

Sisley, Stephanie; Trujillo, Marcela Vargas; Khoury, Jane; Backeljauw, Philippe

2013-01-01

148

Changes in stature following plyometric drop-jump and pendulum exercises  

Microsoft Academic Search

The aim of this study was to compare the changes in stature following the performance of plyometric exercises using drop-jumps and a pendulum swing. Eight male participants aged 21.7 ± 1.8 years with experience of plyometric training gave their informed consent to act as participants. Participants undertook two exercise regimens and a 15-min standing test in a random order. The

N. E. FOWLER; A. LEES; T. REILLY

1997-01-01

149

Waist to stature ratio is more strongly associated with cardiovascular risk factors than other simple anthropometric indices  

Microsoft Academic Search

PurposeTo determine which is the best anthropometric index among body mass index (BMI), waist circumference (WC), waist to hip ratio (WHR) and waist to stature ratio (WSR) in relation to cardiovascular risk factors.

Sai-Yin Ho; Tai-Hing Lam; Edward D Janus

2003-01-01

150

Stature and gender determination and their correlation using odontometry and skull anthropometry  

PubMed Central

Background: When the body has been mutilated, it is common to have the extremities or head amputated from the trunk. In concern with forensic odontology, an estimate must have been made based on the correlation of osteometry along with odontometry in determining sex, race and stature. Objective: The objective of this study is to investigate and correlate height and gender from odontometry and anthropometric data of the skull. Materials and Methods: The study was conducted in the Department of Oral and Maxillofacial Pathology and Microbiology, I.T.S Center for Dental studies and Research, Muradnagar, Ghaziabad (UP) with the representative study subjects of 60 patients as 30 males and 30 females in the age group of 15-25 years. The selected parameters were measured and then correlated to investigate stature and gender from odontometry and anthropometric data of the skull. Results: On linear regression analysis, the selected parameters were found to be statistically significant predictor of height. It was also established by Karl Pearson's coefficient correlation that the left mandibular canine index for female was statistically significant to show sexual dimorphism. Conclusion: In the emerging field of forensic odontology, skull anthropometry, odontometry exhibits stature determination and strong sexual dimorphism. PMID:25125917

Gupta, Amit; Kumar, Kiran; Shetty, Devi Charan; Wadhwan, Vijay; Jain, Anshi; Khanna, Kaveri Surya

2014-01-01

151

Sensory Motor and Functional Skills of Dizygotic Twins: One with Smith-Magenis Syndrome and a Twin Control  

ERIC Educational Resources Information Center

Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, speech delays, cognitive deficits, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive…

Smith, Michaele R.; Hildenbrand, Hanna; Smith, Ann C. M.

2009-01-01

152

Cognitive, Emotional, Physical and Social Effects of Growth Hormone Treatment in Adults with Prader-Willi Syndrome  

ERIC Educational Resources Information Center

Prader-Willi syndrome (PWS) is a multisystem genetic disorder characterized by short stature, muscular hypotonia, hyperphagia, obesity, maladaptive behaviour, hypogonadism and partial growth hormone (GH) deficiency (GHD). Severe GHD of other aetiologies has been shown to affect mood and quality of life negatively, and there are reports of…

Hoybye, C; Thoren, M.; Bohm, B.

2005-01-01

153

Quality of Life and Psychological Well-Being in GH-Treated, Adult PWS Patients: A Longitudinal Study  

ERIC Educational Resources Information Center

Background: Prader-Willi syndrome (PWS) is a congenital alteration of chromosome pair 15. It is characterized by short stature, muscular hypotonia, hyperphagia, obesity, behavioural and emotional disturbances, hypogonadism and partial Growth Hormone (GH) deficiency. The aim of this study was to assess the long-term effect of GH treatment on the…

Bertella, L.; Mori, I.; Grugni, G.; Pignatti, R.; Ceriani, F.; Molinari, E.; Ceccarelli, A.; Sartorio, A.; Vettor, R.; Semenza, C.

2007-01-01

154

Prader-Willi syndrome  

Microsoft Academic Search

Prader-Willi syndrome is a complex disorder affecting multiple systems with many manifestations relating to hypothalamic insufficiency. Major findings include infantile hypotonia, developmental delay and mental retardation, behaviour disorder, characteristic facial appearance, obesity, hypogonadism, and short stature. Obesity and the behavioural problems are the major causes of morbidity and mortality. Prader-Willi syndrome is caused by abnormalities of the imprinted region of

S B Cassidy

1997-01-01

155

Stature estimation based on measurements of the sternal medullary cavity using multidetector computed tomography images of Japanese cadavers.  

PubMed

Stature estimation using a skeleton is important for the medicolegal investigation of unidentified human remains. The aims of this study were to identify a correlation between stature and measurements of the sternal medullary cavity using multidetector computed tomography (MDCT) and derive regression equations for stature estimation in the Japanese population. Measurements were conducted on 215 Japanese subjects (107 males, 108 females) who underwent postmortem computed tomography with subsequent forensic autopsy between May 2012 and January 2014. For assessment, MDCT cross-sections through the mid-point of the first costal facets were chosen. The length of a rising diagonal stroke from the bottom left to the top right of the sternal medullary cavity (RS) and the length of a falling diagonal stroke from top left to bottom right of the sternal medullary cavity (FS) were measured. Statistical analyses indicated that both RS and FS were positively correlated with stature regardless of sex. The correlations were stronger for males than for females. The correlation coefficients for RS were higher than those for FS, and standard errors of estimation calculated by regression analysis using RS were lower than those using FS regardless of sex. Measurement of the sternal medullary cavity using MDCT images may be a potentially useful tool for stature estimation, particularly in cases where better predictors such as long bones are not available. PMID:25082372

Torimitsu, Suguru; Makino, Yohsuke; Saitoh, Hisako; Sakuma, Ayaka; Ishii, Namiko; Hayakawa, Mutsumi; Yajima, Daisuke; Inokuchi, Go; Motomura, Ayumi; Chiba, Fumiko; Iwase, Hirotaro

2014-09-01

156

Changes in Radiation Dose with Variations in Human Anatomy: Larger and Smaller Normal-Stature Adults  

PubMed Central

A systematic evaluation has been performed to study how specific absorbed fractions (SAFs) vary with changes in adult body size, for persons of different size but normal body stature. Methods A review of the literature was performed to evaluate how individual organ sizes vary with changes in total body weight of normal-stature individuals. On the basis of this literature review, changes were made to our easily deformable reference adult male and female total-body models. Monte Carlo simulations of radiation transport were performed; SAFs for photons were generated for 10th, 25th, 75th, and 90th percentile adults; and comparisons were made to the reference (50th) percentile SAF values. Results Differences in SAFs for organs irradiating themselves were between 0.5% and 1.0%/kg difference in body weight, from 15% to 30% overall, for organs within the trunk. Differences in SAFs for organs outside the trunk were not greater than the uncertainties in the data and will not be important enough to change calculated doses. For organs irradiating other organs within the trunk, differences were significant, between 0.3% and 1.1%/kg, or about 8%–33% overall. Conclusion The differences are interesting and can be used to estimate how different patients’ dosimetry might vary from values reported in standard dose tables. PMID:20395339

Marine, Patrick M.; Stabin, Michael G.; Fernald, Michael J.; Brill, Aaron B.

2010-01-01

157

Cyclist drag in team pursuit: influence of cyclist sequence, stature, and arm spacing.  

PubMed

In team pursuit, the drag of a group of cyclists riding in a pace line is dependent on several factors, such as anthropometric characteristics (stature) and position of each cyclist as well as the sequence in which they ride. To increase insight in drag reduction mechanisms, the aerodynamic drag of four cyclists riding in a pace line was investigated, using four different cyclists, and for four different sequences. In addition, each sequence was evaluated for two arm spacings. Instead of conventional field or wind tunnel experiments, a validated numerical approach (computational fluid dynamics) was used to evaluate cyclist drag, where the bicycles were not included in the model. The cyclist drag was clearly dependent on his position in the pace line, where second and subsequent positions experienced a drag reduction up to 40%, compared to an individual cyclist. Individual differences in stature and position on the bicycle led to an intercyclist variation of this drag reduction at a specific position in the sequence, but also to a variation of the total drag of the group for different sequences. A larger drag area for the group was found when riding with wider arm spacing. Such numerical studies on cyclists in a pace line are useful for determining the optimal cyclist sequence for team pursuit. PMID:24149940

Defraeye, Thijs; Blocken, Bert; Koninckx, Erwin; Hespel, Peter; Verboven, Pieter; Nicolai, Bart; Carmeliet, Jan

2014-01-01

158

Stature, migration and human welfare in South China, 1850-1930.  

PubMed

This paper offers new evidence on human stature in south China during the second half of the 19th century and early part of the 20th. It is based on the records kept by the Government of Canada of 97,123 Chinese immigrants who were required to pay an entry tax between 1885 and 1949. While the study population included both sexes and all ages from infancy to old age, it was largely male, with most ages falling between 12 and 50. The data reveal an increase of over 4cm in the adult heights of both sexes between 1850 and 1930. They also indicate an upward trend of over 5cm in the heights of adolescent males. The mean heights of male immigrants fall in the lower range of those reported in other studies of stature in south China. The rising trends contrast with a pattern of stagnation and decline reported in other recent findings but are consistent with other recent evidence of increasing economic growth, real wages, and life expectancy in south China during this period. One likely cause of improved well-being is the influence of the migrants' remittances on socioeconomic change in south China. PMID:23200182

Ward, W Peter

2013-12-01

159

Femur length, body mass, and stature estimates of Orrorin tugenensis, a 6 Ma hominid from Kenya.  

PubMed

To understand the palaeobiology of extinct hominids it is useful to estimate their body mass and stature. Although many species of early hominid are poorly preserved, it is occasionally possible to calculate these characteristics by comparison with different extant groups, by use of regression analysis. Calculated body masses and stature determined using these models can then be compared. This approach has been applied to 6 Ma hominid femoral remains from the Tugen Hills, Kenya, attributed to Orrorin tugenensis. It is suggested that the best-preserved young adult individual probably weighed approximately 35-50 kg. Another fragmentary femur results in larger estimates of body mass, indicative of individual variation. The length of the femur of the young adult individual was estimated, by using anthropoid-based regression, to be a minimum of 298 mm. Because whole-femur proportions for Orrorin are unknown, this prediction is conservative and should be revised when additional specimens become available. When this predicted value was used for regression analysis of bonobos and humans it was estimated to be 1.1-1.2 m tall. This value should, however, be viewed as a lower limit. PMID:17318735

Nakatsukasa, Masato; Pickford, Martin; Egi, Naoko; Senut, Brigitte

2007-07-01

160

In Italy, North-South Differences in IQ Predict Differences in Income, Education, Infant Mortality, Stature, and Literacy  

ERIC Educational Resources Information Center

Regional differences in IQ are presented for 12 regions of Italy showing that IQs are highest in the north and lowest in the south. Regional IQs obtained in 2006 are highly correlated with average incomes at r = 0.937, and with stature, infant mortality, literacy and education. The lower IQ in southern Italy may be attributable to genetic…

Lynn, Richard

2010-01-01

161

The Effect of Short Stature, Portal Hypertension, and Cholestasis on Growth Hormone Resistance in Children with Liver Disease  

Microsoft Academic Search

Chronic liver disease is associated with GH resistance, which is characterized by high circulating GH and low insulin-like growth factor I (IGF-I) concentrations. Standard GH replacement has no effect on serum IGF-I in pediatric liver disease. The aims were to examine whether GH resistance can be overcome by supraphysiologi- cal GH and to determine whether GH resistance worsens with the

RICHARD I. G. HOLT; JENNIFER S. JONES; ALASTAIR J. BAKER; CHARLES R. BUCHANAN; JOHN P. MIELL

2010-01-01

162

Familial C/G Translocation in Three Relatives Associated with Severe Mental Retardation, Short Stature, Unusual Dermatoglyphics and Other Malformations  

ERIC Educational Resources Information Center

Three case studies of patients (relatives) suffering from a chromosomal aberration (translocation between one of the C group chromosomes and one of the G group chromosomes) resulting in severe mental retardation and skin malformations are reported. It was suggested that the anomaly is hereditary in nature (CD)

Yanagisawa, S.; Hiraoka, K.

1971-01-01

163

Growth rates and the prevalence and progression of scoliosis in short-statured children on Australian growth hormone treatment programmes  

Microsoft Academic Search

STUDY DESIGN AND AIM: This was a longitudinal chart review of a diverse group (cohort) of patients undergoing HGH (Human Growth Hormone) treatment. Clinical and radiological examinations were performed with the aim to identify the presence and progression of scoliosis. METHODS AND COHORT: 185 patients were recruited and a database incorporating the age at commencement, dose and frequency of growth

Gregory A Day; Ian Bruce McPhee; Jenny Batch; Francis H Tomlinson

2007-01-01

164

Functional Analysis of Conserved Non-Coding Regions Around the Short Stature hox Gene (shox) in Whole Zebrafish Embryos  

PubMed Central

Background Mutations in the SHOX gene are responsible for Leri-Weill Dyschondrosteosis, a disorder characterised by mesomelic limb shortening. Recent investigations into regulatory elements surrounding SHOX have shown that deletions of conserved non-coding elements (CNEs) downstream of the SHOX gene produce a phenotype indistinguishable from Leri-Weill Dyschondrosteosis. As this gene is not found in rodents, we used zebrafish as a model to characterise the expression pattern of the shox gene across the whole embryo and characterise the enhancer domains of different CNEs associated with this gene. Methodology/Principal Findings Expression of the shox gene in zebrafish was identified using in situ hybridization, with embryos showing expression in the blood, putative heart, hatching gland, brain pharyngeal arch, olfactory epithelium, and fin bud apical ectodermal ridge. By identifying sequences showing 65% identity over at least 40 nucleotides between Fugu, human, dog and opossum we uncovered 35 CNEs around the shox gene. These CNEs were compared with CNEs previously discovered by Sabherwal et al., resulting in the identification of smaller more deeply conserved sub-sequence. Sabherwal et al.'s CNEs were assayed for regulatory function in whole zebrafish embryos resulting in the identification of additional tissues under the regulatory control of these CNEs. Conclusion/Significance Our results using whole zebrafish embryos have provided a more comprehensive picture of the expression pattern of the shox gene, and a better understanding of its regulation via deeply conserved noncoding elements. In particular, we identify additional tissues under the regulatory control of previously identified SHOX CNEs. We also demonstrate the importance of these CNEs in evolution by identifying duplicated shox CNEs and more deeply conserved sub-sequences within already identified CNEs. PMID:21731768

Kenyon, Emma J.; McEwen, Gayle K.; Callaway, Heather; Elgar, Greg

2011-01-01

165

Early-life environment and adult stature in Brazil: An analysis for cohorts born between 1950 and 1980.  

PubMed

We study the relationship between environmental conditions at birth (GDP per capita and infant mortality rate) and adult stature using cohort-state level data in Brazil for the period 1950-1980. We find that GDP per capita, whose annual percentage growth rate was 4.8% during this period, not infant mortality rate, is a robust correlate of population stature in Brazil. Our results are robust to a battery of robustness checks. Using a useful bracketing property of the (state) fixed effects and lagged dependent variables (heights) estimators, we find that an increase in GDP per capita of the magnitude corresponding to that period is associated with 43-68% of the increase in adult height occurring in the same time span. Income, not disease, appears to be the main correlate of Brazilian population heights in the second half of the 20th Century. PMID:25108192

de Oliveira, Victor Hugo; Quintana-Domeque, Climent

2014-12-01

166

Trends in thin body stature among Japanese female adolescents, 2003-2012.  

PubMed

Abstract Background: The past decades have witnessed a steady increase in thin body stature associated with unhealthy dieting among Japanese female adolescents. The most recent trends in thinness, however, have not been reported. Aim: To describe changes in the distribution of body mass index (BMI) of Japanese female adolescents, from 2003-2012. Subjects and methods: This study examined BMI distribution changes in 2541 relatively affluent Japanese girls, aged 12.5-17.5 years, during 2003-2012. The 2003 and 2004 data were combined and compared to the combined 2011 and 2012 data. Tukey mean-difference plots were used to study the direction and magnitude of shifts in BMI distributions. Results: Prevalence of thinness (BMI <5th percentile of the 1978-1981 references) has progressively increased from 2.0-5.7% in 2003-2004 to 3.5-7.8% in 2011-2012 in Japanese girls. The downward shift in BMI was larger in 12.5-14.5 year olds than in 15.5-17.5 year olds and more prominent in the lower BMI spectrum. Conclusion: The trend towards thinness has continued in Japanese girls during the past decade. The distribution of BMI suggests thinner and younger sub-groups of girls are more susceptible to this trend. PMID:25365031

Inokuchi, Mikako; Matsuo, Nobutake; Takayama, John I; Hasegawa, Tomonobu

2014-11-01

167

The use of computerized tomography in determining stature and sex from metatarsal bones.  

PubMed

This study evaluates the efficacy of a radiological method to estimate stature from measurements of the first and second metatarsal taken from a collection of metatarsals of a Portuguese Caucasian population in which the measurements were made directly on the bone. The highest coefficient of determination and the lowest standard error were obtained with the physiological length of the second metatarsal (F2), using the equation S=895.4803+10.7848F2. The linear regressions obtained show significant differences between the estimated heights from M1. In addition, we offer a simple method for sex determination based on the maximum length (M1) and width (W1) of the first metatarsal, where W1=x1; (M1/W1)=x2; ?0=55.4767; ?1=-2.5796 and ?2=-4.6898. Here we present a method of measurement using computerized tomography that enables population studies using live volunteers without incurring the difficulties of on the bone measurement. PMID:24916861

Rodríguez, Sonia; González, Antonio; Simón, Antía; Rodríguez-Calvo, María S; Febrero-Bande, Manuel; Cordeiro, Cristina; Muńoz-Barús, José I

2014-09-01

168

Influence of Age-Related Stature on the Frequency of Body Region Injury and Overall Injury Severity in Child Pedestrian Casualties  

Microsoft Academic Search

Objective. The current study aims to evaluate the influence of age-related stature on the frequency of body region injury and overall injury severity in children involved in pedestrian versus motor vehicle collisions (PMVCs).Methods. A trauma registry including the coded injuries sustained by 1,590 1- to 15-year-old pedestrian casualties treated at a level-one trauma center was categorized by stature-related age (1–3,

B. Johan Ivarsson; Jeff R. Crandall; Masayoshi Okamoto

2006-01-01

169

Fine root respiration in the mangrove Rhizophora mangle over variation in forest stature and nutrient availability.  

PubMed

Root respiration uses a significant proportion of photosynthetically fixed carbon (C) and is a globally important source of C liberated from soils. Mangroves, which are an important and productive forest resource in many tropical and subtropical countries, sustain a high ratio of root to shoot biomass which may indicate that root respiration is a particularly important component in mangrove forest carbon budgets. Mangroves are often exposed to nutrient pollution from coastal waters. Here we assessed the magnitude of fine root respiration in mangrove forests in Belize and investigated how root respiration is influenced by nutrient additions. Respiration rates of excised fine roots of the mangrove, Rhizophora mangle L., were low (4.01 +/- 0.16 nmol CO(2) g(-1) s(-1)) compared to those measured in temperate tree species at similar temperatures. In an experiment where trees where fertilized with nitrogen (N) or phosphorus (P) in low productivity dwarf forests (1-2 m height) and more productive, taller (4- 7 m height) seaward fringing forests, respiration of fine roots did not vary consistently with fertilization treatments or with forest stature. Fine roots of taller fringe trees had higher concentrations of both N and P compared to dwarf trees. Fertilization with P enhanced fine root P concentrations in both dwarf and fringe trees, but reduced root N concentrations compared to controls. Fertilization with N had no effect on root N or P concentrations. Unlike photosynthetic C gain and growth, which is strongly limited by P availability in dwarf forests at this site, fine root respiration (expressed on a mass basis) was variable, but showed no significant enhancements with nutrient additions. Variation in fine root production and standing biomass are, therefore, likely to be more important factors determining C efflux from mangrove sediments than variations in fine root respiration per unit mass. PMID:17169899

Lovelock, Catherine E; Ruess, Roger W; Feller, Ilka C

2006-12-01

170

Increasing Maternal Age Is Associated with Taller Stature and Reduced Abdominal Fat in Their Children  

PubMed Central

Background Maternal age at childbirth continues to increase worldwide. We aimed to assess whether increasing maternal age is associated with changes in childhood height, body composition, and metabolism. Methods 277 healthy pre-pubertal children, born 37–41 weeks gestation were studied. Assessments included: height and weight corrected for parental measurements, DEXA-derived body composition, fasting lipids, glucose, insulin, and hormonal profiles. Subjects were separated according to maternal age at childbirth: <30, 30–35, and >35 years. Results Our cohort consisted of 126 girls and 151 boys, aged 7.4±2.2 years (range 3–10); maternal age at childbirth was 33.3±4.7 years (range 19–44). Children of mothers aged >35 and 30–35 years at childbirth were taller than children of mothers aged <30 years by 0.26 (p?=?0.002) and 0.23 (p?=?0.042) SDS, respectively. There was a reduction in childhood BMISDS with increasing maternal age at childbirth, and children of mothers aged >35 years at childbirth were 0.61 SDS slimmer than those of mothers <30 years (p?=?0.049). Children of mothers aged 30–35 (p?=?0.022) and >35 (p?=?0.036) years at childbirth had abdominal adiposity reduced by 10% and 13%, respectively, compared to those in the <30 group. Children of mothers aged 30–35 years at childbirth displayed a 19% increase in IGF-I concentrations compared to offspring in <30 group (p?=?0.042). Conversely, IGF-II concentrations were lower among the children born to mothers aged 30–35 (6.5%; p?=?0.004) and >35 (8.1%; p?=?0.005) compared to those of mothers aged <30 years. Girls of mothers aged 30–35 years at childbirth also displayed improved HOMA-IR insulin sensitivity (p?=?0.010) compared to girls born to mothers aged <30 years. Conclusions Increasing maternal age at childbirth is associated with a more favourable phenotype (taller stature and reduced abdominal fat) in their children, as well as improved insulin sensitivity in girls. PMID:23527040

Savage, Tim; Derraik, José G. B.; Miles, Harriet L.; Mouat, Fran; Hofman, Paul L.; Cutfield, Wayne S.

2013-01-01

171

Changes in the stature, body mass and age of English professional rugby players: a 10-year review.  

PubMed

The aim of the study was to evaluate changes in the stature, body mass, age and number of players by playing position in the first team squads of English Premiership rugby union teams from 2002 to 2011. Medical personnel at each club reported the individual data for every first team squad player. The average annual number of players included in the study was 485.2 players per season (standard deviation: 58.0). The mean stature of players in all positions increased in the period 2002 to 2011 but statistically significant trends (P < 0.01) were only observed at fly half and prop. While the mean body mass of players increased in most positions only fly half and back row players showed statistically significant (P < 0.01) upward trends. Apart from second row forwards, the average age of players in all positions decreased but this trend was only significant (P < 0.01) at prop. The numbers of registered players in every position increased but these trends were only significant (P < 0.01) at prop. English Premiership professional rugby players are generally getting taller, heavier and younger but statistically significant changes were limited to fly halves (taller and heavier), props (taller and younger) and back row forwards (heavier). PMID:23244349

Fuller, Colin W; Taylor, Aileen E; Brooks, John H M; Kemp, Simon P T

2013-01-01

172

Xq26.2-q26.3 microduplication in two brothers with intellectual disabilities: clinical and molecular characterization  

Microsoft Academic Search

Partial duplications involving the long arm of the X chromosome are associated with mental retardation, short stature, microcephaly, hypopituitarism and a wide range of physical findings. We identified an inherited Xq26.2-Xq26.3 duplication in two brothers with severe mental retardation, hypotonia, growth delay, craniofacial disproportion and dental malocclusion. Chromosome analysis was normal and multiplex ligation-dependent probe amplification analysis detected duplication on

Irene Madrigal; Miguel Fernández-Burriel; Laia Rodriguez-Revenga; Jose Carlos Cabrera; Milagros Martí; Antonio Mur; Montserrat Milŕ

2010-01-01

173

Endocrine Dysfunction in Prader-Willi Syndrome: A Review with Special Reference to GH  

Microsoft Academic Search

Prader-Willi syndrome is a genetic disorder occurring in 1 in 10,000 -16,000 live-born infants. In the general population, ap- proximately 60 people in every 1,000,000 are affected. The condition is characterized by short stature, low lean body mass, muscular hypotonia, mental retardation, behavioral ab- normalities, dysmorphic features, and excessive appetite with progressive obesity. Furthermore, morbidity and mortality are high, probably

PIA BURMAN; E. MARTIN RITZEN; ANN CHRISTIN LINDGREN

2001-01-01

174

Abstract Populations of grasses exposed to grazing by vertebrates often exhibit reduced stature, increased tille-  

E-print Network

Bouteloua gracilis is related to varia- tion in their responses to grazing. Eleven genotypes dif- fering for defoliation resistance. Key words Bouteloua gracilis · Grazing · Morphology · Resistance · Shortgrass steppe sug- gest that for B. gracilis clipped in simulation of natural grazing, defoliation has few short

Kotanen, Peter M.

175

SHORT STORY: \\  

Microsoft Academic Search

In teaching short story, there are lots of techniques, methods and approaches. One of these methods, especially for the students at the foreign language departments of universities, is literary approaches. Sometimes by abandoning the traditional ways of teaching short story, a trainer may make use of the literary approaches. Analyzing a short story by means of using one or more

Aysel Ünsal

176

Buschke-ollendorff syndrome in a grande multipara: A case report and short review of the literature  

Microsoft Academic Search

A 36-year-old short-statured grande multipara (gravida 10, para 8) with diabetes mellitus and hyperlipidaemia was incidentally found to have Buschke-Ollendorff syndrome (osteopoikilosis and dermatofibrosis lenticularis disseminata). The pelvis and hips, followed by the knees, were the sites mainly affected by the osteopoikilosis. The lumbosacral spine was also affected. She had a single connective tissue naevus on the right thigh. Apart

H. M. Al Attia; A. M. Sherif

1998-01-01

177

Gonadotropin releasing hormone agonist treatment to increase final stature in children with precocious puberty: a meta-analysis.  

PubMed

In the setting of central precocious puberty (CPP), the motivation for hormonal intervention is to help the child to reach a taller adult stature than she would achieve otherwise. While gonadotropin-releasing hormone analogs (GnRHa) constitute an established treatment for improving adult stature in girls presenting with CPP up to age 6 (true precocious puberty), it is not yet clear whether or not the same is true in the setting of CPP presented in girls beyond age 6 (advance puberty). GnRHa may slow growth velocity, offsetting the anticipated improvement in final height that should have resulted from the increased time before growth plate fusion. Consequently, it's been suggested that growth hormone (GH) should be combined with GnRHa to improve the results.Few controlled prospective studies have been performed with GnRHa in children and many conclusions rely in part on collective expert opinion. Therefore, the literature was searched and relevant studies were selected using the search terms "gonadotropin releasing hormone agonist," "precocious puberty/early puberty," and "GnRH analogue." After selected articles were screened for relevance, the process yielded 8 studies, the results of which were then pooled in a meta-analysis aimed at evaluating the effects of GnRHa therapy both with and without added GH in the setting of early puberty.A significant difference was elucidated in final height and predicted adult height comparing GnRHa and combined GnRHa/GH groups. However, no significant difference was elucidated in final height standard deviation scores (SDS) and initial height SDS when comparing GnRHa and control groups. At the same time, the final analysis revealed no significant difference in final height SDS and initial height SDS when GnRHa and combined GnRHa/GH groups were compared.The results suggest GnRHa therapy may have a positive effect on final adult height in girls with early puberty, while adding GH to the treatment may suggest more advantage. Interpretation of the results requires extreme caution, given the complexity of the outcome analysis. Final height gain may prove to be a more appropriate measure of treatment efficacy in any case. PMID:25501098

Li, Pin; Li, Yan; Yang, Chung-Lin

2014-12-01

178

Coordination between water transport capacity, biomass growth, metabolic scaling and species stature in co-occurring shrub and tree species.  

PubMed

The significance of xylem function and metabolic scaling theory begins from the idea that water transport is strongly coupled to growth rate. At the same time, coordination of water transport and growth seemingly should differ between plant functional types. We evaluated the relationships between water transport, growth and species stature in six species of co-occurring trees and shrubs. Within species, a strong proportionality between plant hydraulic conductance (K), sap flow (Q) and shoot biomass growth (G) was generally supported. Across species, however, trees grew more for a given K or Q than shrubs, indicating greater growth-based water-use efficiency (WUE) in trees. Trees also showed slower decline in relative growth rate (RGR) than shrubs, equivalent to a steeper G by mass (M) scaling exponent in trees (0.77-0.98). The K and Q by M scaling exponents were common across all species (0.80, 0.82), suggesting that the steeper G scaling in trees reflects a size-dependent increase in their growth-based WUE. The common K and Q by M exponents were statistically consistent with the 0.75 of ideal scaling theory. A model based upon xylem anatomy and branching architecture consistently predicted the observed K by M scaling exponents but only when deviations from ideal symmetric branching were incorporated. PMID:25041417

Smith, Duncan D; Sperry, John S

2014-12-01

179

Meta-Analysis of Genome-Wide Scans for Human Adult Stature Identifies Novel Loci and Associations with Measures of Skeletal Frame Size  

Microsoft Academic Search

Recent genome-wide (GW) scans have identified several independent loci affecting human stature, but their contribution through the different skeletal components of height is still poorly understood. We carried out a genome-wide scan in 12,611 participants, followed by replication in an additional 7,187 individuals, and identified 17 genomic regions with GW-significant association with height. Of these, two are entirely novel (rs11809207

Nicole Soranzo; Fernando Rivadeneira; Usha Chinappen-Horsley; Ida Malkina; J. Brent Richards; Naomi Hammond; Lisette Stolk; Alexandra Nica; Michael Inouye; Albert Hofman; Jonathan Stephens; Eleanor Wheeler; Pascal Arp; Rhian Gwilliam; P. Mila Jhamai; Simon Potter; Amy Chaney; Mohammed J. R. Ghori; Radhi Ravindrarajah; Sergey Ermakov; Karol Estrada; Huibert A. P. Pols; Frances M. Williams; Wendy L. McArdle; Joyce B. van Meurs; Ruth J. F. Loos; Emmanouil T. Dermitzakis; Kourosh R. Ahmadi; Deborah J. Hart; Willem H. Ouwehand; Nicholas J. Wareham; Inęs Barroso; Manjinder S. Sandhu; David P. Strachan; Gregory Livshits; Timothy D. Spector; André G. Uitterlinden; Panos Deloukas

2009-01-01

180

Size of the exon 1-CAG repeats of the androgen receptor gene employed as a molecular marker in the diagnosis of Turner syndrome in girls with short stature  

Microsoft Academic Search

Turner syndrome (TS) is one of the most common chromo- somal abnormalities among girls. Complete monosomy of X chromosome is responsible for almost 50% of all cases of TS, and mosaicism and X anomaly are detected in the other half. It has already been demonstrated that early diagnosis of these children allows appropriate growth hormone treatment with better final height

C. C. Figueiredo; C. Kochi; C. A. Longui; M. N. Rocha; F. Richeti; N. M. A. Evangelista; L. E. P. Calliari; O. Monte

2008-01-01

181

The Short Stature Homeobox 2 (Shox2)-bone Morphogenetic Protein (BMP) Pathway Regulates Dorsal Mesenchymal Protrusion Development and Its Temporary Function as a Pacemaker during Cardiogenesis.  

PubMed

The atrioventricular (AV) junction plays a critical role in chamber septation and transmission of cardiac conduction pulses. It consists of structures that develop from embryonic dorsal mesenchymal protrusion (DMP) and the embryonic AV canal. Despite extensive studies on AV junction development, the genetic regulation of DMP development remains poorly understood. In this study we present evidence that Shox2 is expressed in the developing DMP. Intriguingly, this Shox2-expressing domain possesses a pacemaker-specific genetic profile including Hcn4 and Tbx3. This genetic profile leads to nodal-like electrophysiological properties, which is gradually silenced as the AV node becomes matured. Phenotypic analyses of Shox2(-/-) mice revealed a hypoplastic and defectively differentiated DMP, likely attributed to increased apoptosis, accompanied by dramatically reduced expression of Bmp4 and Hcn4, ectopic activation of Cx40, and an aberrant pattern of action potentials. Interestingly, conditional deletion of Bmp4 or inhibition of BMP signaling by overexpression of Noggin using a Shox2-Cre allele led to a similar DMP hypoplasia and down-regulation of Hcn4, whereas activation of a transgenic Bmp4 allele in Shox2(-/-) background attenuated DMP defects. Moreover, the lack of Hcn4 expression in the DMP of mice carrying Smad4 conditional deletion and direct binding of pSmad1/5/8 to the Hcn4 regulatory region further confirm the Shox2-BMP genetic cascade in the regulation of DMP development. Our results reveal that Shox2 regulates DMP fate and development by controlling BMP signaling through the Smad-dependent pathway to drive tissue growth and to induce Hcn4 expression and suggest a temporal pacemaking function for the DMP during early cardiogenesis. PMID:25488669

Sun, Cheng; Yu, Diankun; Ye, Wenduo; Liu, Chao; Gu, Shuping; Sinsheimer, Nathan R; Song, Zhongchen; Li, Xihai; Chen, Chun; Song, Yingnan; Wang, Shusheng; Schrader, Laura; Chen, YiPing

2015-01-23

182

Psychosocial Adjustment of Children with Short Stature (Achondroplasia): Social Competence, Behavior Problems, Self-Esteem, Family Functioning, Body Image, and Reaction to Frustrations.  

ERIC Educational Resources Information Center

This evaluation of 16 children (ages 7-12) with achondroplasia from Transkei, Hungary, and Nigeria found that, compared to controls, subjects had more behavior problems and less self-esteem. Subjects were socially withdrawn, internalized emotional problems, had lower academic performance, found less adaptive solutions to frustration, and faced…

Csapo, Marg

1991-01-01

183

Identification and genetic characterization of a gibberellin 2-oxidase gene that controls tree stature and reproductive growth in plum  

PubMed Central

Several dwarf plum genotypes (Prunus salicina L.), due to deficiency of unknown gibberellin (GA) signalling, were identified. A cDNA encoding GA 2-oxidase (PslGA2ox), the major gibberellin catabolic enzyme in plants, was cloned and used to screen the GA-deficient hybrids. This resulted in the identification of a dwarf plum hybrid, designated as DGO24, that exhibits a markedly elevated PslGA2ox signal. Grafting ‘Early Golden’ (EG), a commercial plum cultivar, on DGO24 (EG/D) enhanced PslGA2ox accumulation in the scion part and generated trees of compact stature. Assessment of active GAs in such trees revealed that DGO24 and EG/D accumulated relatively much lower quantities of main bioactive GAs (GA1 and GA4) than control trees (EG/M). Moreover, the physiological function of PslGA2ox was studied by determining the molecular and developmental consequences due to ectopic expression in Arabidopsis. Among several lines, two groups of homozygous transgenics that exhibited contrasting phenotypes were identified. Group-1 displayed a dwarf growth pattern typical of mutants with a GA deficiency including smaller leaves, shorter stems, and delay in the development of reproductive events. In contrast, Group-2 exhibited a ‘GA overdose’ phenotype as all the plants showed elongated growth, a typical response to GA application, even under limited GA conditions, potentially due to co-suppression of closely related Arabidopsis homologous. The studies reveal the possibility of utilizing PslGA2ox as a marker for developing size-controlling rootstocks in Prunus. PMID:22080981

El-Sharkawy, I.; El Kayal, W.; Prasath, D.; Fernández, H.; Bouzayen, M.; Svircev, A. M.; Jayasankar, S.

2012-01-01

184

PIK3R1 mutations in SHORT syndrome.  

PubMed

SHORT syndrome (OMIM 269880) is a rare autosomal-dominant disorder characterized by short stature, hyperextensibility of joints, hernias, ocular depression, ophthalmic anomalies (Rieger anomaly, posterior embryotoxon, glaucoma), teething delay, partial lipodystrophy, insulin resistance and facial dysmorphic signs. Heterozygous mutations in PIK3R1 were recently identified in 14 families with SHORT syndrome. Eight of these families had a recurrent missense mutation (c.1945C>T; p.Arg649Trp). We report on two unrelated patients with typical clinical features of SHORT syndrome and additional problems such as pulmonary stenosis and ectopic kidney. Analysis of PIK3R1 revealed the mutation c.1945C>T; p.Arg649Trp de novo in both patients. These two patients not only provide additional evidence that PIK3R1 mutations cause SHORT syndrome, but also broaden the clinical spectrum of this syndrome and further confirm that the amino acid exchange c.1945C>T; p.Arg649Trp is a hotspot mutation in this gene. PMID:23980586

Schroeder, C; Riess, A; Bonin, M; Bauer, P; Riess, O; Döbler-Neumann, M; Wieser, S; Moog, U; Tzschach, A

2014-09-01

185

Short Circuit  

NSDL National Science Digital Library

In this activity about electricity, learners explore what happens when you blow a fuse. Learners short-circuit a battery using copper wire (a good conductor with very low resistance) and thin iron wire. Learners will discover that when they connect the clip to the iron wire, the voltage of the battery pushes electrons through the circuit against the resistance of the iron wire, causing the iron wire to heat up. Note: the wire gets very hot! Use this activity to introduce learners to basics of electricity including conductivity, resistance, and currents as well as electronics safety and circuit breakers.

Exploratorium, The

2011-12-02

186

Partial deletion 21: case report with biochemical studies and review.  

PubMed Central

An unbalanced translocation of a portion of the long arm of chromosome 21 to the short arm of chromosome 4 resulted in a partial deletion of chromosome 21 (pter----q21.05) and in the loss of the telomere of 4p. The phenotype of the child included asymmetrical facies, microcephaly, short stature, hypotonia, and psychomotor retardation associated with frequent infections. Normal SOD-1 activity in red blood cells and fibroblasts and normal cystathionine beta synthase activity in fibroblasts suggest that these gene loci are distal to 21q21.05. Images PMID:3430548

Carpenter, N J; Mayes, J S; Say, B; Wilson, D P

1987-01-01

187

Inversion duplication of the short arm of chromosome 8: Clinical data on seven patients and review of the literature  

SciTech Connect

We report on clinical and cytogenetic data on 5 children and 2 adults with a de novo inverted duplication of the short arm of chromosome 8, and we give a review of 26 patients from the literature. The clinical picture in young children is characterized by minor facial anomalies, hypotonia, and severe developmental delay. In older patients the facial traits are less characteristic, spastic paraplegia develops, and severe orthopedic problems are frequent. Psychomotor retardation is always severe-to-profound. Duplication of 8p21-p22 results in a clinically recognizable multiple congenital anomalies/mental retardation (MCA/MR) syndrome. It is shown that in all patients examined, the duplication was accompanied by a deletion of the most terminal part of 8p. 16 refs., 4 figs., 2 tabs.

Die-Smulders, C.E.M. de; Engelen, J.J.M.; Schrander-Stumpel, C.T.R.M. [Univ. of Limburg, Maastricht (Netherlands)] [and others

1995-11-20

188

Evidence for Linkage of Stature to Chromosome 3p26 in a Large U.K. Family Data Set Ascertained for Type 2 Diabetes  

PubMed Central

We have analyzed data from 573 pedigrees from the United Kingdom for evidence for linkage to loci influencing adult stature. Our data set comprised 1,214 diabetic and 163 nondiabetic siblings for whom height data were available. We used variance-components analysis implemented in GENEHUNTER 2 and a modification of the Haseman-Elston regression method, HE-COM. We found evidence for a locus on 3p26 (LOD score 3.17) influencing height in this adult sample, with less-significant evidence for loci on chromosomes 7, 10, 15, 17, 19, and 20. Our findings extend similar recent studies in Scandinavian and Quebecois populations, adding further evidence that height is indeed under the control of multiple genes. PMID:11753821

Wiltshire, Steven; Frayling, Timothy M.; Hattersley, Andrew T.; Hitman, Graham A.; Walker, Mark; Levy, Jonathan C.; O'Rahilly, Stephen; Groves, Christopher J.; Menzel, Stephan; Cardon, Lon R.; McCarthy, Mark I.

2002-01-01

189

Prenatal diagnosis in a mentally retarded woman with mosaic ring chromosome 18.  

PubMed

We present a pregnant woman with mental retardation and mosaic for ring 18 referred for prenatal diagnosis. Major clinical features included short stature with clinodactyly in feet, foot deformity and club feet, hypotonia, kyphosis, and absence of breast development, low set ears, high arched palate, dental decay and speech disorder. Prenatal diagnosis was carried. Using amniocentesis. The fetus had a normal karyotype described as 46,XX. The fetus was evaluated for clinical features after delivery; she was healthy with no abnormal clinical characterizations. PMID:22090726

Bagherizadeh, Eiman; Behjati, Farkhondeh; Saberi, Seyed Hoseinali; Shafeghati, Yousef

2011-05-01

190

SHORT Syndrome with Partial Lipodystrophy Due to Impaired Phosphatidylinositol 3 Kinase Signaling  

PubMed Central

The phosphatidylinositol 3 kinase (PI3K) pathway regulates fundamental cellular processes such as metabolism, proliferation, and survival. A central component in this pathway is the p85? regulatory subunit, encoded by PIK3R1. Using whole-exome sequencing, we identified a heterozygous PIK3R1 mutation (c.1945C>T [p.Arg649Trp]) in two unrelated families affected by partial lipodystrophy, low body mass index, short stature, progeroid face, and Rieger anomaly (SHORT syndrome). This mutation led to impaired interaction between p85? and IRS-1 and reduced AKT-mediated insulin signaling in fibroblasts from affected subjects and in reconstituted Pik3r1-knockout preadipocytes. Normal PI3K activity is critical for adipose differentiation and insulin signaling; the mutated PIK3R1 therefore provides a unique link among lipodystrophy, growth, and insulin signaling. PMID:23810379

Chudasama, Kishan Kumar; Winnay, Jonathon; Johansson, Stefan; Claudi, Tor; König, Rainer; Haldorsen, Ingfrid; Johansson, Bente; Woo, Ju Rang; Aarskog, Dagfinn; Sagen, Jřrn V.; Kahn, C. Ronald; Molven, Anders; Njřlstad, Pĺl Rasmus

2013-01-01

191

Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome  

SciTech Connect

Mendelian inherited disorders to deletions of adjacent genes on a chromosome have been described as contiguous gene syndromes. Short stature, chondrodysplasia punctata, mental retardation, steroid sulfatase deficiency, and Kallmann syndrome have been found as isolated entities or associated in various combination in 27 patients with interstitial and terminal deletions involving the distal short are of the X chromosome. The use of cDNA and genomic probes from the Xp22-pter region allowed us to identify 12 different deletion intervals and to confirm, and further refine, the chromosomal assignment of X-linked recessive chondrodysplasia punctata and Kallmann syndrome genes. A putative pseudoautosomal gene affecting height and an X-linked nonspecific mental retardation gene have been tentatively assigned to specific intervals. The deletion panel described is a useful tool for mapping new sequences and orienting chromosome walks in the region.

Ballabio, A.; Andria, G. (Univ. of Reggio Calabria, Catanzaro (Italy)); Bardoni, B.; Fraccaro, M.; Maraschio, P.; Zuffardi, O.; Guioli, S.; Camerino, G. (Univ. of Pavia (Italy)); Carrozzo, R. (Univ. of Naples (Italy)); Bick, D.; Campbell, L. (Univ. of Texas, San Antonio (USA)); Hamel, B. (Univ. of Nijmegen (Netherlands)); Ferguson-Smith, M.A. (Univ. of Cambridge (England)); Gimelli, G. (G. Gaslini Institute, Genoa (Italy))

1989-12-01

192

Genetics Home Reference: Cranioectodermal dysplasia  

MedlinePLUS

... legs (metaphyseal dysplasia) lead to short limbs and short stature. In addition, affected individuals often have short fingers ( ... inherited ; kidney ; prevalence ; protein ; recessive ; renal ; renal disease ; short stature ; stage ; stature ; subunit ; syndrome You may find definitions ...

193

A Review of Stature, Body Mass and Maximal Oxygen Uptake Profiles of U17, U20 and First Division Players in Brazilian Soccer  

PubMed Central

Investigations in the physiological demands of soccer have identified that a significant percentage of energy production in match performance is provided through the aerobic pathways. It is therefore important to assess maximal oxygen uptake (VO2Max) of players in order to evaluate their aerobic fitness status and optimize their physical conditioning. However, it is also important to consider the variation of (VO2Max) profiles for soccer players, with differences having been identified in terms of playing position as well as playing style. This paper reviews the academic literature between 1996 and 2006 and reports on the methodologies employed and the values obtained for stature, body mass and (VO2Max) profiles of soccer players of different positions in professional Brazilian clubs at U-17, U-20 and First Division levels. Indirect measurements accounted for the majority of tests conducted at U-17 (70%) and U-20 (84.6%) levels whereas at First Division level almost half of the (VO2Max) evaluations were performed by direct measurements (47.8%). The mean (VO2Max) profiles obtained for outfield players in U-17 was 56.95 ± 3.60 ml·kg-1·min-1, 58.13 ± 3.21 ml·kg-1·min-1 for U-20 players and 56.58 ± 5.03 ml·kg-1·min-1 for First Division players. In Brazil, the U-20 players appear to have highest VO2Max values, however the profiles reported for all outfield positions in U-17 and First Division levels are often lower than those reported for the same category of players from other countries. This may be a reflection of the style of play used in Brazilian soccer. This is further emphasized by the fact that the playing position with the highest VO2Max values was the external defenders whereas most findings from studies performed in European soccer indicate that midfielders require the highest VO2Max values. Key pointsPhysical and physiological differences exist between Brazilian soccer and European soccer.Players in Brazil appear to be shorter in stature, similar in body mass and have a lower overall aerobic capacity to their European equivalentsIn Brazil, there seems to be a physical development phase for players at U-20 level which prepares them for the demands at First Division level. PMID:24149897

Da Silva, Cristiano Diniz; Bloomfield, Jonathan; Marins, Joăo Carlos Bouzas

2008-01-01

194

Genetics Home Reference: KBG syndrome  

MedlinePLUS

... names do people use for KBG syndrome? macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies short stature-characteristic facies-mental ...

195

Managing Shortness of Breath  

MedlinePLUS

PATIENT / FAMILY TEACHING SHEET Managing Shortness of Breath What is shortness of breath (dyspnea)? ? A personal experience for each individual ? An ... rev. 08 09, rev 07 13 Other HPNA Teaching Sheets on are available at www.HPNA.org. ...

196

Are short normal children at a disadvantage? The Wessex growth study.  

PubMed Central

OBJECTIVE: To examine whether short stature through childhood represents a disadvantage at around 12 years. DESIGN: Longitudinal non-intervention study of the physical and psychological development of children recruited from the community in 1986-7 after entry into primary school at age 5-6 years; this is the second psychometric assessment made in 1994-5 after entry into secondary school at age 11-13 years. SETTING: Southampton and Winchester health districts. SUBJECTS: 106 short normal children (< 3rd centile for height when recruited) and 119 controls of average stature (10th-90th centile). MAIN OUTCOME MEASURES: Psychometric measures of cognitive development, self concept development, behaviour, and locus of control. RESULTS: The short children did not differ significantly from the control children on measures of self esteem (19.4 v 20.2), self perception (104.2 v 102.4), parents' perception (46.9 v 47.0), or behaviour (6.8 v 5.3). The short children achieved significantly lower scores on measures of intelligence quotient (IQ) (102.6 v 108.6; P < 0.005), reading attainment (44.3 v 47.9; P < 0.002), and basic number skills (40.2 v 43.5; P < 0.003) and displayed less internalisation of control (16.6 v 14.3; P < 0.001) and less satisfaction with their height (P < 0.0001). More short than control children, however, came from working class homes (P < 0.05). Social class was a better predictor than height of all measures except that of body satisfaction. Attainment scores were predicted by class and IQ together rather than by height. Height accounted for some of the variance in IQ and locus of control scores. CONCLUSIONS: These results provide only limited support for the hypothesis that short children are disadvantaged, at least up until 11-13 years old. Social class seems to have more influence than height on children's psychological development. PMID:9006466

Downie, A. B.; Mulligan, J.; Stratford, R. J.; Betts, P. R.; Voss, L. D.

1997-01-01

197

Genetics Home Reference: Floating-Harbor syndrome  

MedlinePLUS

... syndrome? Floating-Harbor syndrome is a disorder involving short stature, slowing of the mineralization of the bones (delayed ... deficiency ; disability ; gene ; inherited ; motor ; mutation ; philtrum ; protein ; short stature ; stature ; syndrome ; testes You may find definitions for ...

198

Genetics Home Reference: Léri-Weill dyschondrosteosis  

MedlinePLUS

... bones, people with Leri-Weill dyschondrosteosis typically have short stature. Most people with the condition also have an ... of inheritance ; prevalence ; protein ; pseudoautosomal region ; sex chromosomes ; short stature ; stature You may find definitions for these and ...

199

Genetics Home Reference: Larsen syndrome  

MedlinePLUS

... unusually large range of joint movement (hypermobility) and short stature. They can also have abnormal curvature of the ... protein ; protein sequence ; recessive ; reproductive cells ; respiratory ; scoliosis ; short stature ; sperm ; stature ; syndrome ; tissue You may find definitions ...

200

Genetics Home Reference: Hereditary neuralgic amyotrophy  

MedlinePLUS

... neuralgic amyotrophy also have unusual physical characteristics including short stature, excess skin folds on the neck and arms, ... immune system ; inherited ; isoforms ; neuropathy ; palate ; prevalence ; protein ; short stature ; sign ; spontaneous ; stature ; stress ; surgery ; syndactyly ; tissue ; uvula ; ...

201

Genetics Home Reference: Langer mesomelic dysplasia  

MedlinePLUS

... bones, people with Langer mesomelic dysplasia have very short stature. A bone in the forearm called the ulna ... inheritance ; prevalence ; protein ; pseudoautosomal region ; recessive ; sex chromosomes ; short stature ; stature ; ulna You may find definitions for these ...

202

Genetics Home Reference: Congenital disorder of glycosylation type IIi  

MedlinePLUS

... to speak. Other features of CDG IIi include short stature, an unusually small head size (microcephaly), and distinctive ... neurological ; oligosaccharides ; protein ; recessive ; sensorineural ; sensorineural hearing loss ; short stature ; stature ; syndrome You may find definitions for these ...

203

Genetics Home Reference: Robinow syndrome  

MedlinePLUS

... the spine (kyphoscoliosis); fused or missing ribs; and short stature. Affected individuals also have distinctive facial features, such ... kidney ; kyphoscoliosis ; mutation ; pattern of inheritance ; protein ; recessive ; short stature ; stature ; syndrome You may find definitions for these ...

204

Genetics Home Reference: Thanatophoric dysplasia  

MedlinePLUS

... people use for thanatophoric dysplasia? Dwarf, thanatophoric thanatophoric dwarfism thanatophoric short stature For more information about naming ... understanding thanatophoric dysplasia? autosomal ; autosomal dominant ; cell ; dwarf ; dwarfism ; dysplasia ; gene ; protein ; respiratory ; short stature ; stature ; tissue ...

205

Partial monosomy 3p (3p26.2 --> pter) and partial trisomy 5q (5q34 --> qter) in a girl with coarctation of the aorta, congenital heart defects, short stature, microcephaly and developmental delay.  

PubMed

A 1-year-and-3-month-old girl presented with psychomotor retardation, developmental delay, clinodactyly of the thumb, coarctation of the aorta, patent ductus arteriosus, peripheral pulmonary stenosis, atrial septal defect, microcephaly, brachycephaly, a small oval face, almond-shaped eyes, a down-turned mouth, a widened nasal bridge, hypertelorism, epicanthic folds, long philtrum, low-set large ears and but no craniosynostosis. Oligonucleotide-based array comparative genomic hybridization revealed a -4.79-Mb deletion of 3p26.2 --> pter encompassing CHL1 and CNTN4, and a -19.56-Mb duplication of 5q34 --> qter encompassing MSX2, NKX2-5 and NSD1. The karyotype of the girl was 46,XX,der(3)t(3;5)(p26.2;q34) pat. The present case adds distal 5q duplication to the list of chromosome aberrations associated with coarctation of the aorta. PMID:23072190

Chen, C P; Lin, S P; Chen, M R; Su, Y N; Chern, S R; Liu, Y P; Su, J W; Lee, M S; Wang, W

2012-01-01

206

Short pulse test set  

NASA Astrophysics Data System (ADS)

This report discusses the construction and operation of the Short Pulse Test Set that has been built for the U.S. Army Missile Command for the purpose of applying short (25 to 100 nanosecond), high voltage pulses to electronic explosive devices (EEDs) in both the pin-to-pin and pins-to-case mode. The test set employs the short pulse generating techniques first described in the Franklin Institute Research Laboratories (now Franklin Research Center) Report I-C3410, 'Pins-to-Case Short Pulse Sensitivity Studies for the Atlas DC Switch', December 1974. This report, authored by Ramie H. Thompson, was prepared for Picatinny Arsenal under contract DAAA21-72C-0766. The test set described herein utilizes a computer controlled high speed digitizer to monitor the pulse voltage and current and provides software to process and display these data.

1990-11-01

207

Proposal Writing Short Course  

NSDL National Science Digital Library

This is an online, open-access, multilingual short course on how to write a proposal. This course includes instruction on composing the executive summary, statement of need, project description, and budget.

Foundation Center (Foundation Center)

2012-01-04

208

Short Dietary Assessment Instruments  

Cancer.gov

Short dietary assessment instruments, often called screeners, may be useful in situations that do not require assessment of the total diet or quantitative accuracy in dietary estimates. Recognizing the need for these tools, the Risk Factor Monitoring and Methods Branch (RFMMB) has developed several short instruments that assess intake of fruits and vegetables, percentage energy from fat, fiber, added sugars, whole grains, calcium, dairy products, and red and processed meats.

209

Measurement of short bunches  

SciTech Connect

In recent years, there has been increasing interest in short electron bunches for different applications such as short wavelength FELs, linear colliders, and advanced accelerators such as laser or plasma wakefield accelerators. One would like to meet various requirements such as high peak current, low momentum spread, high luminosity, small ratio of bunch length to plasma wavelength, and accurate timing. Meanwhile, recent development and advances in RF photoinjectors and various bunching schemes make it possible to generate very short electron bunches. Measuring the longitudinal profile and monitoring bunch length are critical to understand the bunching process and longitudinal beam dynamics, and to commission and operate such short bunch machines. In this paper, several commonly used measurement techniques for subpicosecond bunches and their relative advantages and disadvantages are discussed. As examples, bunch length related measurements at Jefferson lab are presented. At Jefferson Lab, bunch lengths s short as 84 fs have been systematically measured using a zero-phasing technique. A highly sensitive Coherent Synchrotron Radiation (CSR) detector has been developed to noninvasively monitor bunch length for low charge bunches. Phase transfer function measurements provide a means of correcting RF phase drifts and reproducing RF phases to within a couple of tenths of a degree. The measurement results are in excellent agreement with simulations. A comprehensive bunch length control scheme is presented.

Wang, D.X.

1996-10-01

210

Genetics Home Reference: Alström syndrome  

MedlinePLUS

... acanthosis nigricans ; autosomal ; autosomal recessive ; cardiomyopathy ; cell ; diabetes ; diabetes mellitus ; dilated ; gene ; inherited ; insulin ; insulin resistance ; protein ; recessive ; short stature ; stature ; syndrome You may find ...

211

Genetics Home Reference: Neurofibromatosis type 1  

MedlinePLUS

... inheritance ; inherited ; leukemia ; macrocephaly ; mutation ; oligodendrocytes ; optic nerve ; pattern of inheritance ; peripheral ; pigmentation ; protein ; Schwann cells ; scoliosis ; short stature ; stature ; tissue ; tumor ...

212

Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome  

PubMed Central

Background SHORT syndrome is a rare autosomal dominant condition whose name is the acronym of short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay (MIM 269880). Additionally, the patients usually present a low birth weight and height, lipodystrophy, delayed bone age, hernias, low body mass index and a progeroid appearance. Case presentation In this study, we used whole-exome sequencing approaches in two patients with clinical features of SHORT syndrome. We report the finding of a novel mutation in PIK3R1 (c.1929_1933delTGGCA; p.Asp643Aspfs*8), as well as a recurrent mutation c.1945C > T (p.Arg649Trp) in this gene. Conclusions We found a novel frameshift mutation in PIK3R1 (c.1929_1933delTGGCA; p.Asp643Aspfs*8) which consists of a deletion right before the site of substrate recognition. As a consequence, the protein lacks the position that interacts with the phosphotyrosine residue of the substrate, resulting in the development of SHORT syndrome. PMID:24886349

2014-01-01

213

Science Shorts: Spoilage Science  

NSDL National Science Digital Library

Whether it's fresh or processed, all food eventually spoils. Methods such as freezing, canning, and the use of preservatives lengthen the lifespan of foods, and we--and the modern food industry--rely on these methods to maintain our food supply. This month's Science Shorts explores the concepts of food spoilage and prevention.

2005-01-01

214

Shortness of Breath  

MedlinePLUS

... em-fa-see-ma"), which is a lung disease that is most often caused by smoking Heart failure Panic attacks If you are short of breath with a cough and/or fever, you may have a chest infection or pneumonia (say: "new-moan-yuh"). Less common causes of breathing problems are lung cancer, a blood ...

215

Molecular Cell Short Review  

E-print Network

catalyzed by the five natu- rally occurring small ribozymes, the hammerhead, hairpin, hepatitis delta virus simplicity of their chemical makeup, ribozymes can form complex tertiary structures, as perhaps bestMolecular Cell Short Review Ribozyme Catalysis Revisited: Is Water Involved? Nils G. Walter1,* 1

Walter, Nils G.

216

Molecular Cell Short Article  

E-print Network

uti- lizing alternate modes of DNA binding to recognize unique sets of noncanonical binding sitesMolecular Cell Short Article Diversification of Transcription Factor Paralogs via Noncanonical Modularity in C2H2 Zinc Finger DNA Binding Trevor Siggers,1,2,4,* Jessica Reddy,1 Brian Barron,2 and Martha L

Bulyk, Martha L.

217

Short notes Batrachochytrium dendrobatidis  

E-print Network

183 Short notes Batrachochytrium dendrobatidis not found in rainforest frogs along an altitudinal these rich fauna from future Bd outbreaks. Key words: altitude, amphibians, Batrachochytrium dendrobatidis), and may also play an important role in PNG. Batrachochytrium dendrobatidis (Bd) is a fungal pathogen

218

905Short Report Introduction  

E-print Network

) to the cell-cell contact. These lines of evidence suggest that cell-cell adhesion can induce cells905Short Report Introduction Polarization of the cell-motility apparatus is a crucial first step for migration of cell populations in contexts such as morphogenesis and wound healing. During migratory

Chen, Christopher S.

219

[Submitted manuscript] Short communication  

E-print Network

[Submitted manuscript] Short communication Pharmacokinetics and safety of cetuximab in a patient. Corresponding author: H. Gelderblom, a.j.gelderblom@lumc.nl Keywords: cetuximab, renal dysfunction was treated on compassionate use basis with 400 mg/m2 cetuximab. Pharmacokinetic parameters after the first

Paris-Sud XI, Université de

220

Molecular Cell Short Article  

E-print Network

-Containing ERAD Complex James H. Cormier,1,2 Taku Tamura,1 Johan C. Sunryd,1,2 and Daniel N. Hebert1,2,* 1Molecular Cell Short Article EDEM1 Recognition and Delivery of Misfolded Proteins to the SEL1L substrate binding but diminished its association with the ER membrane adaptor protein SEL1L. These results

Hebert, Daniel N.

221

Troubling Practices: Short Responses  

ERIC Educational Resources Information Center

In this "RiDE" themed edition on environmentalism, some short pieces are chosen where practitioners describe their own specific environmental practices. Zoe Svendsen and Lucy Neal point to the positives in two commissioned works ("The Trashcatchers' Carnival" and "3rd Ring Out"), underlining the importance of participant agency for effective…

Anderson, Gary; Simic, Lena; Haley, David; Svendsen, Zoe; Neal, Lucy; Samba, Emelda Ngufor

2012-01-01

222

Development Michael Short  

E-print Network

Status Average Net Power 300 kW Fuel Bio-ethanol Reformate Oxidant Pure Oxygen Shock & Vibration US NavalFuel Cell Development Status Michael Short Systems Engineering Manager #12;United Technologies in annual sales in 2009 ~60% of Sales are in building technologies #12;TransportationStationary Fuel Cells

223

Short stem shoulder replacement  

PubMed Central

Context: It is agreed that it is important to anatomically reproduce the proximal humeral anatomy when performing a prosthetic shoulder replacement. This can be difficult with a long stemmed prosthesis, in particular if there is little relationship of the metaphysis to the humeral shaft. The ‘short stem’ prosthesis can deal with this problem. Aims: A prospective study assessed the results of total shoulder arthroplasty using a short stem humeral prosthesis, a ceramic humeral head, and a pegged cemented polyethylene glenoid. Materials and methods: Patients with primary shoulder osteoarthritis were recruited into this prospective trial and pre-operatively had the ASES, Constant, SPADI, and DASH scores recorded. The patients were clinically reviewed at the two weeks, eight weeks, one year, and two year mark with completion of a data form. Radiological evaluation was at the eight week, one year and two year follow-up. At the one and two year follow-up the satisfaction rating, the range of passive and active motion, Constant, ASES, SPADI, DASH and pain results were recorded and analysed with SPPS 20. Results: During the study period 97 short stem, ceramic head total shoulder replacements were carried out. At the time of follow-up 12 were two years from operation and 38 one year from operation. Active elevation was overall mean 160 degrees. Constant scores were 76 at 1 year, and 86 at 2 years, ASES 88 and 93, and satisfaction 96% and 98% respectively at one and 2 year follow up. There were no problems during insertion of the humeral prosthesis, or any radiolucent lines or movement of the prosthesis on later radiographs. Conclusion: The short stem prosthesis had no complications, and on follow up radiographs good bone fixation. These fairly short term clinical results were overall good. PMID:25258497

Bell, Simon N.; Coghlan, Jennifer A.

2014-01-01

224

Molecular and cytogenetic characterization of a recurrent unbalanced translocation (4;21) (p16.3;q22.1): Relevance to the Wolf-Hirschhorn and Down syndrome critical regions  

SciTech Connect

We report on an aneuploidy syndrome due to the unbalanced segregation of a familial translocation (4;21)(p16.3;q22.1) causing a partial 4p monosomy and a partial 21q trisomy. The three affected children presented with severe failure to thrive, short stature, microcephaly, profound hypotonia, and mental retardation. The face, very similar in the three children, is characterized by frontal bossing, upslanting of the palpebral fissures, short nose, and deep set ears, giving the overall appearance of the Down syndrome. The molecular study has defined the aneuploid segment on both 4p and 21q. Most of the Down syndrome critical region was found to be trisomic, while only part of the candidate Wolf-Hirschhorn syndrome critical region was deleted, suggesting that this region is not critical for the major malformations characteristic for WHS. 15 refs., 5 figs., 1 tab.

Sebastio, G.; Perone, L.; Guzzetta, V. [Universita Federico II, Naples (Italy)] [and others] [Universita Federico II, Naples (Italy); and others

1996-05-17

225

Mwatambudzeni's short life.  

PubMed

This fictional story depicts a young Zimbabwean girl's short life amid the struggles of poverty, cultural practices, and access to health care. Through Mwatambudzeni's story, we experience her lost educational opportunities, unsuccessful fight against a system of harmful cultural practices, and her premature death caused by lack of available health care services. But it also offers a glimmer of hope as young girls, not wanting to follow in Mwatambudzeni's footsteps, begin to empower themselves through education. PMID:17990615

Kanchense, Jane Hardina Murigwa

2007-10-01

226

Dave's Short Trig Course  

NSDL National Science Digital Library

This resource, provided by Professor David Joyce of Clark University, is an excellent examples of how Java can be used to explain basic principles of geometry and trigonometry. A Short Course in Trigonometry is divided into thirteen sections, accompanied by instructive Java applets and selected answered exercises. Professor Joyce shows a wonderful ability to simplify complex concepts and demystify geometry and trigonometry. Figures are provided for those without Java capability.

Joyce, David E.

1996-01-01

227

Does priming with sex steroids improve the diagnosis of normal growth hormone secretion in short children?  

PubMed Central

Introduction: There is still controversy for priming with sex steroid before growth hormone (GH) testing. Objective: We studied GH response to stimulation in 92 children >9 years with idiopathic short stature (height standard deviation score [HtSDS]-2). They were divided randomly into two groups. Children in Group 1 (n = 50) were primed with premarin in girls and testosterone in boys and those in Group 2 were not primed (n = 42). All children were tested using standard clonidine test and their serum insulin-like growth factor-I concentration (IGF-I). Additionally the growth and GH-IGF-I data of the two groups of children were compared with those for 32 short children (HtSDS 9 years. The peak GH response to clonidine provocation test did not differ before (n = 42) versus after 9 years (n = 32) of age. Conclusions: In this randomized study priming with sex steroids before GH testing did not significantly increase the yield of diagnosing short patients with normal GH secretion. In addition, GH response to provocation did not vary significantly between young (<9 years) and old (>9 years) short children.

Soliman, Ashraf; Adel, Ashraf; Sabt, Aml; Elbukhari, Elkhansa; Ahmed, Hannah; De Sanctis, Vincenzo

2014-01-01

228

Online Short Course: The Universe  

NSDL National Science Digital Library

Looking to expand your horizons this summer? Join us for the new NSTA Online Short Course: The Universe . This short course will explore the ways scientists learn about the universe and the current ideas about the origins and f

1900-01-01

229

An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.  

PubMed

Seven cases with an interstitial deletion of the short arm of chromosome 6 involving the 6p22 region have previously been reported. The clinical phenotype of these cases includes developmental delay, brain-, heart-, and kidney defects, eye abnormalities, short neck, craniofacial malformations, hypotonia, as well as clinodactyly or syndactyly. Here, we report a patient with a 7.1Mb interstitial deletion of chromosome band 6p22.3, detected by genome-wide screening array CGH. The patient is a 4-year-old girl with developmental delay and dysmorphic features including eye abnormalities, short neck, and a ventricular septum defect. The deleted region at 6p22.3 in our patient overlaps with six out of the seven previously reported cases with a 6p22-24 interstitial deletion. This enabled us to further narrow down the critical region for the 6p22 deletion phenotype to 2.2Mb. Twelve genes are mapped to the overlapping deleted region, among them the gene encoding the ataxin-1 protein, the ATXN1 gene. Mice with homozygous deletions in ATXN1 are phenotypically normal but show cognitive delay. Haploinsufficiency of ATXN1 may therefore contribute to the learning difficulties observed in the patients harboring a 6p22 deletion. PMID:19576304

Bremer, Anna; Schoumans, Jacqueline; Nordenskjöld, Magnus; Anderlid, Britt-Marie; Giacobini, Maibritt

2009-01-01

230

Scottish Short Stone Rows  

NASA Astrophysics Data System (ADS)

Short stone rows received a good deal of attention during the 1980s and 1990s, at a time when archaeoastronomy in prehistoric Britain and Ireland was moving beyond reassessments of Alexander Thom's "megalithic observatories" by identifying coherent groups of similar monuments with clear orientation trends. Many such rows are found in western Scotland, with the main concentration in Argyll and the island of Mull. Systematic analyses of their orientations produced credible evidence of an awareness of the 18.6-year lunar node cycle, within a "primary-secondary" pattern whereby isolated rows were oriented close to moonrise or moonset at the southern major standstill limit, while others oriented in this way were accompanied by a second row oriented in a declination range that could be interpreted either as lunar or solar. A detailed investigation of the landscape situation of the sites in northern Mull, accompanied by excavations at two of the sites, suggested that they were deliberately placed in locations where critical moonsets would be seen against prominent distant landscape features, but where the distant horizon in most or all other directions was hidden from view. A lack of independent archaeological evidence may help to explain why archaeoastronomical investigations at short stone rows have never progressed beyond "data-driven" studies of orientations and landscape situation. Nonetheless, the work that was done at these sites raised important general methodological issues, and pioneered techniques, that remain relevant across archaeoastronomy today.

Ruggles, Clive L. N.

231

Short-period comets  

NASA Technical Reports Server (NTRS)

The spacecraft flybys of Comet Halley in 1986 confirmed Whipple's icy conglomerate hypothesis for cometary nuclei and showed that comets are far richer in volatiles than any other class of solar system bodies. Water is the most abundant volatile, comprising roughly 80 percent of the gas flowing out from the nucleus. Carbon monoxide is next with a content of 15 percent relative to water, though with approximately half of that coming from an extended source in the cometary coma, i.e., hydrocarbon dust grains. The detection of large numbers of hydrocarbon CHON grains was one of the more significant discoveries of the Halley flybys, as was the ground-based observation that CN occurs in jets, again indicating an extended source. Evidence was also found for more complex hydrocarbons. Estimates of the total dust-to-gas ratio for Halley range as high as 2:1, indicating that a substantial fraction of the volatile material may be tied up in solid hydrocarbons rather than ices. The role of clathrates in trapping more volatile ices is not yet understood. If Halley can be taken to be representative of all short-period comets, then the short-period comets may provide a significant source of volatiles in near-earth space. This resource is more difficult to reach dynamically than the near-earth asteriods, but the high volatile content may justify the additional effort necessary. In addition, there is considerable evidence that at least some fraction of the near-earth asteriods are extinct cometary nuclei which have evolved into asteroid orbits, and which may contain significant volatiles buried beneath an insulating lag-deposit crust of nonvolatiles. Knowledge of comets will be greatly enhanced in the near future by the Comet Rendezvous Flyby mission now under development by NASA, and by the proposed Rosetta mission.

Weissman, Paul R.; Campins, Humberto

1991-01-01

232

Short-wave Diathermy  

PubMed Central

It is submitted that the thermal action of short-wave therapy does not account for the therapeutic results obtained. The theory is put forward that many of the results obtained can be better explained by the disruptive and dispersive action of the impact of the electromagnetic vibrations. An analogy, indicating such disruptive effects at high frequency, is drawn from the molecular vibrations—transmitted through transformer oil, and excited by the application of high frequency currents to the layers of quartz in the piezo-electric oscillator of quartz. It is submitted that these disruptive and dispersive effects will be greatest where the conductivity of the tissues is low, such as in bones and fat, and it is shown that it is in these regions that the therapeutic action of these currents is most obvious. It is also pointed out that, if effects, comparable to those obtained in the subcutaneous area, are obtained in the deeper tissues and organs, the application of deep-wave therapy would be attended by serious risk. PMID:19990107

1935-01-01

233

Xq26.2-q26.3 microduplication in two brothers with intellectual disabilities: clinical and molecular characterization.  

PubMed

Partial duplications involving the long arm of the X chromosome are associated with mental retardation, short stature, microcephaly, hypopituitarism and a wide range of physical findings. We identified an inherited Xq26.2-Xq26.3 duplication in two brothers with severe mental retardation, hypotonia, growth delay, craniofacial disproportion and dental malocclusion. Chromosome analysis was normal and multiplex ligation-dependent probe amplification analysis detected duplication on Xq26. Further characterization by array comparative genomic hybridization and quantitative PCR helped to determine proximal and distal duplication breakpoints giving a size of approximately 2.8?Mb. The duplication encompasses 24 known genes, including the X-linked mental retardation genes ARHGEF6, PHF6, HPRT1 and SLC9A6. Clinical and molecular characterization of Xq duplications will shed more light into the phenotypic implication of functional disomy of X-chromosome genes. PMID:20861843

Madrigal, Irene; Fernández-Burriel, Miguel; Rodriguez-Revenga, Laia; Cabrera, Jose Carlos; Martí, Milagros; Mur, Antonio; Milŕ, Montserrat

2010-12-01

234

Shwachman--Diamond syndrome associated with autoimmune phenomena.  

PubMed

A 2-year-old boy was evaluated for failure to thrive, hypotonia and developmental delay. The child exhibited all the criteria of Shwachman-Diamond syndrome, i.e., short stature, metaphyseal dysostosis, pancreatic insufficiency and neutropenia. Liver function tests were abnormal. Marked edema together with pericardial effusion appeared during the period of follow-up. Hypothyroidism attributed to autoimmune thyroiditis was diagnosed, and other autoantibodies were detected as well. We suggest that an autoimmune baseline profile and follow-up should be part of the work-up and management of patients with Shwachman-Diamond syndrome. Moreover, the finding of autoantibodies might offer a new insight towards understanding the pathogenesis of this condition. PMID:17312679

Reif, S; Arav-Boger, R; Diamant, S; Burstein, Y; Fatal, A

1999-01-01

235

Short Stories in the Classroom.  

ERIC Educational Resources Information Center

Examining how teachers help students respond to short fiction, this book presents 25 essays that look closely at "teachable" short stories by a diverse group of classic and contemporary writers. The approaches shared by the contributors move from readers' first personal connections to a story, through a growing facility with the structure of…

Hamilton, Carole L., Ed.; Kratzke, Peter, Ed.

236

VALIDITY OF WPPSI SHORT FORMS  

Microsoft Academic Search

CORRELATIONS WITH THE FULL SCALE OF ALL SHORT FORMS OF 2, 3, 4, AND 5 SUBTESTS WERE DETERMINED FROM WECHSLER PRESCHOOL AND PRIMARY SCALE OF INTELLIGENCE STANDARDIZATION DATA. THE 10 BEST SHORT FORMS OF EACH LENGTH WERE LISTED, AND INFORMATION WAS GIVEN ON THEIR STANDARD ERRORS OF ESTIMATE AND THEIR AGREEMENT WITH THE FULL SCALE IN CLASSIFYING SS. A METHOD

A. B. SILVERSTEIN

1968-01-01

237

Large short-baseline ?Ż? disappearance  

NASA Astrophysics Data System (ADS)

We analyze the LSND, KARMEN, and MiniBooNE data on short-baseline ?Ż???Że oscillations and the data on short-baseline ?Że disappearance obtained in the Bugey-3 and CHOOZ reactor experiments in the framework of 3+1 antineutrino mixing, taking into account the MINOS observation of long-baseline ?Ż? disappearance and the KamLAND observation of very-long-baseline ?Że disappearance. We show that the fit of the data implies that the short-baseline disappearance of ?Ż? is relatively large. We obtain a prediction of an effective amplitude sin?22????0.1 for short-baseline ?Ż? disappearance generated by 0.2??m2?1eV2, which could be measured in future experiments.

Giunti, Carlo; Laveder, Marco

2011-03-01

238

Magnet Coil Shorted Turn Detector  

SciTech Connect

The Magnet Coil Shorted Turn Detector has been developed to facilitate the location of shorted turns in magnet coils. Finding these shorted turns is necessary to determine failure modes that are a necessary step in developing future production techniques. Up to this point, coils with shorted turns had the insulation burned off without the fault having been located. This disassembly process destroyed any chance of being able to find the fault. In order to maintain a flux balance in a coupled system such as a magnet coil, the current in a shorted turn must be opposed to the incident current. If the direction of the current in each conductor can be measured relative to the incident current, then the exact location of the short can be determined. In this device, an AC voltage is applied to the magnet under test. A small hand held B-dot pickup coil monitors the magnetic field produced by current in the individual magnet conductors. The relative phase of this pickup coil voltage is compared to a reference signal derived from the input current to detect a current reversal as the B-dot pickup coil is swept over the conductors of the coil under test. This technique however, is limited to only those conductors that are accessible to the hand held probe.

Dinkel, J.A.; Biggs, J.E.

1994-03-01

239

Dwarfism (For Parents)  

MedlinePLUS

... like their average-size peers. Continue What Causes Short Stature? More than 300 well-described conditions are known ... at a normal rate. Back Continue Types of Short Stature Most types of dwarfism are known as skeletal ...

240

Effects of Growth Hormone in Chronically Ill Children  

ClinicalTrials.gov

- Hurler Syndrome (MPS-1) With Short Stature and Muscle Wasting; - Cerebral Palsy With Muscle Wasting; - Juvenile Rheumatoid Arthritis With Muscle Wasting and Short Stature; - Crohn’s Disease; - HIV Infection.

2006-02-01

241

Having Eczema Won't Make You Shorter  

MedlinePLUS

... researchers report. "Childhood eczema is not associated with short stature overall, although severe disease with prominent sleep disturbance is associated with higher odds of short stature in early adolescence," the Northwestern University researchers wrote. ...

242

Genetics Home Reference: Spondyloenchondrodysplasia with immune dysregulation  

MedlinePLUS

... enchondromas). The bone and cartilage problems contribute to short stature in people with SPENCDI. Individuals with SPENCDI have ... the skeletal abnormalities, including irregularly shaped bones and short stature. An overactive immune system leads to increased susceptibility ...

243

Genetics Home Reference: Schimke immuno-osseous dysplasia  

MedlinePLUS

... immuno-osseous dysplasia is a condition characterized by short stature, kidney disease, and a weakened immune system. In people with this condition, short stature is caused by flattened spinal bones (vertebrae), resulting ...

244

Turner Syndrome  

MedlinePLUS

... later. The most common features of TS are short stature (with an average adult height of about 4’ ... cannot become pregnant without medical help. Apart from short stature, there may be other physical features: Head and ...

245

Genetics Home Reference: Familial osteochondritis dissecans  

MedlinePLUS

... Other characteristic features of familial osteochondritis dissecans include short stature and development of a joint disorder called osteoarthritis ... in life after the bone has stopped growing. Short stature is not associated with this form of the ...

246

Primes in short arithmetic progressions  

NASA Astrophysics Data System (ADS)

We give a large sieve type inequality for functions supported on primes. As application we prove a conjecture by Elliott, and give bounds for short character sums over primes. The proves uses a combination of the large sieve and the Selberg sieve.

Puchta, Jan-Christoph

247

Towards short wavelengths FELs workshop  

SciTech Connect

This workshop was caged because of the growing perception in the FEL source community that recent advances have made it possible to extend FEL operation to wavelengths about two orders of magnitude shorter than the 240 nm that has been achieved to date. In addition short wavelength FELs offer the possibilities of extremely high peak power (several gigawatts) and very short pulses (of the order of 100 fs). Several groups in the USA are developing plans for such short wavelength FEL facilities. However, reviewers of these plans have pointed out that it would be highly desirable to first carry out proof-of-principle experiments at longer wavelengths to increase confidence that the shorter wavelength devices will indeed perform as calculated. The need for such experiments has now been broadly accepted by the FEL community. Such experiments were the main focus of this workshop as described in the following objectives distributed to attendees: (1) Define measurements needed to gain confidence that short wavelength FELs will perform as calculated. (2) List possible hardware that could be used to carry out these measurements in the near term. (3) Define a prioritized FEL physics experimental program and suggested timetable. (4) Form collaborative teams to carry out this program.

Ben-Zvi, I.; Winick, H.

1993-12-01

248

A Short Selection of Advertisements  

NSDL National Science Digital Library

Advertisers constantly thrust quantitative information in our face. Product claims, store enticements, health benefits, and scores of other contexts use short quantitative arguments to catch a reader's eye (and possibly money). This example shows how one can use these ads to bring added content to a quantitative reasoning course.

Boersma, Stuart

249

Short Report Taking Another Person's  

E-print Network

Short Report Taking Another Person's Perspective Increases Self-Referential Neural Processing increases self-based processing of others. Studies have shown that a region of human ventromedial prefrontal in the cognitive processes engaged by consideration of self and other, activity in vMPFC should differentiate less

Mitchell, Jason

250

TEXAS WATERSHED PLANNING Short Course  

E-print Network

TEXAS WATERSHED PLANNING Short Course #12;Planning Team Members Jennifer Delk Nikki Dictson Ann. an overall improvement in water quality 4. and the watershed conditions important to your community. #12;To economical operation To facilitate control #12;What are the 6 major steps in watershed planning? 1. Build

251

Electromagnetic neutrino: a short review  

E-print Network

A short review on selected issues related to the problem of neutrino electromagnetic properties is given. After a flash look at the theoretical basis of neutrino electromagnetic form factors, constraints on neutrino magnetic moments and electric millicharge from terrestrial experiments and astrophysical observations are discussed. We also focus on some recent studies of the problem and on perspectives.

Alexander I. Studenikin

2014-11-09

252

Electromagnetic neutrino: a short review  

E-print Network

A short review on selected issues related to the problem of neutrino electromagnetic properties is given. After a flash look at the theoretical basis of neutrino electromagnetic form factors, constraints on neutrino magnetic moments and electric millicharge from terrestrial experiments and astrophysical observations are discussed. We also focus on some recent studies of the problem and on perspectives.

Studenikin, Alexander I

2014-01-01

253

Primes in short arithmetic progressions  

E-print Network

We give a large sieve type inequality for functions supported on primes. As application we prove a conjecture by Elliott, and give bounds for short character sums over primes. The proves uses a combination of the large sieve and the Selberg sieve.

Schlage-Puchta, Jan-Christoph

2011-01-01

254

Short-term load forecasting  

Microsoft Academic Search

This paper discusses the state of the art in short-term load forecasting (STLF), that is, the prediction of the system load over an interval ranging from one hour to one week. The paper reviews the important role of STLF in the on-line scheduling and security functions of an energy management system (EMS). It then discusses the nature of the load

G. Gross; F. D. Galiana

1987-01-01

255

Cell Stem Cell Short Article  

E-print Network

Cell Stem Cell Short Article High Mitochondrial Priming Sensitizes hESCs to DNA of Pediatric Newborn Medicine 4Department of Medicine, Division of Genetics Brigham & Women's Hospital, BostonDivision of Newborn Medicine, Boston Children's Hospital, Boston, MA 02115, USA 7Harvard Stem Cell

Lahav, Galit

256

Cell Host & Microbe Short Review  

E-print Network

Cell Host & Microbe Short Review Homeostasis in Infected Epithelia: Stem Cells Take the Lead tissue homeostasis and avoid disease, epithelial cells damaged by pathogens need to be readily as in mammals. Introduction Fast-renewing tissues such as the skin and the intestine undergo continuous

Higgins, Darren

257

Teaching Conflict in Short Fiction.  

ERIC Educational Resources Information Center

Describes a balloon metaphor exercise to help students to discover the true dynamics of literary conflict in short fiction. Considers conflict in literary characters, conflict for Artisans and Rationals, and conflict for Guardians and Idealists. Discusses stories with successful resolution of conflict, stories with explosive release of conflict,…

McKenna, John J.

2000-01-01

258

Short Course on Marine Acoustics  

Microsoft Academic Search

A short course on Marine Acoustics will be held June 2529, 1973, at Texas AM University. The course is designed to present both basic and selected advanced topics in marine acoustics and to provide additional graduate education for scientists and engineers. Emphasis will be placed on environmental aspects and civil uses.A degree in engineering, science, or mathematics and a knowledge

Anonymous

1973-01-01

259

SHORT REVIEW Butterfly genomics eclosing  

E-print Network

. Here we highlight research on wing color pattern variation in two groups of Nymphalid butterfliesSHORT REVIEW Butterfly genomics eclosing P Beldade1 , WO McMillan2 and A Papanicolaou3 1 Section those organisms outside established model systems, butterflies offer exceptional opportunities

Beldade, PatrĂ­cia

260

Short-term responses of wetland vegetation after liming of an Adirondack watershed  

SciTech Connect

Watershed liming has been suggested as a long-term mitigation strategy for lake acidity, particularly in areas subject to high levels of acidic deposition. However, virtually no information has been available on the impacts of liming on wetland vegetation. In 1989, 1100 Mg of limestone (83.5% CaCO[sub 3]) were aerially applied to 48% (100 ha) of the Woods Lake watershed in the west-central Adirondack region of New York as part of the first comprehensive watershed liming study in North America. We inventoried wetland vegetation in 1.0-m[sup 2] plots before liming and during the subsequent 2 yr. Within this period liming influenced the cover, frequency, or importance values of only 6 of 64 wetland taxa. The cover of Sphagnum spp. and of the cespitose sedge Carex interior decreased in control relative to limed plots, and cover of the rhizomatous sedge Cladium mariscoides increased nearly threefold in limed areas. These two sedges, which are relatively tall, are characteristic of more calcareous habitats. Cover of the grass Muhlenbergia uniflora, cover and importance were adversely affected or inhibited by lime. It is unclear whether liming directly inhibited the growth of these three small-statured species, or whether the adverse effects of lime were mediated through shifts in competitive interactions with other species. The limited responses that we observed to liming, along with changes that occurred in control plots over the study period, may indicate that in the short term watershed liming was no more of a perturbation than the environmental factors responsible for natural annual variation in wetland communities.

Mackun, I.R.; Leopold, D.J.; Raynal, D.J. (State Univ. of New York, Syracuse, NY (United States))

1994-08-01

261

Genetic mapping of X-linked mental retardation genes with short tandem repeat polymorphisms  

SciTech Connect

A number of loci for non-specific and syndromal forms of mental retardation (XLMR) have been mapped to certain regions of the X chromosome. As a prerequisite for molecular identification of several forms of XLMR, we have conducted linkage studies in five families. In family 1, the affected members have severe MR, microcephaly, foot anomalies and digital arches. The most likely location of the gene is between DXS983 and DXYS1. A maximum lod score of 3.0 was obtained with DXS986. In family 2, affected males with moderate MR, spasticity of the lower limbs, and clasped thumbs (probably have MASA syndrome). The gene maps between DXS297 and F8C with a maximum lod score with DXS52. In three families, genes were localized by recombinants but lod scores >2 were not achieved. Family 3 has affected males with moderate MR, microcephaly, short stature, widening of the nasal tip and brachydactyly. The obligate carrier females are normal. The gene was localized to Xp11.3-q21 between SYN1 and DXS1105. In family 4, the affected males have non-specific MR whereas the obligate carrier females are normal. The most likely location of the gene is Xp11.4-p22.1 between MAO-B amd DXS987. Family 5 has affected males with profound MR, seizures, and limb contractures and two of five carrier females with moderate MR and limb contractures. The gene maps between DXS1003 and DXS992 (Xp11.4-p22).

Carpenter, N.J.; Pritchard, J.K. [H.A. Chapman Inst. Med. Genetics, Tulsa, OK (United States)

1994-09-01

262

Anisoplanatic short-exposure imaging in turbulence  

Microsoft Academic Search

Short exposure modulation transfer function (MTF) for imaging nonisoplanatic objects is obtained by generalizing the method to define the average short exposure image through turbulent atmosphere. Numerical estimates of short exposure MTF's made with this formula give some specific properties of short exposure images.

M. I. Charnotskii

1993-01-01

263

Optimal Short-Sighted Rules  

PubMed Central

The aim of this paper is to assess the relevance of methodological transfers from behavioral ecology to experimental economics with respect to the elicitation of intertemporal preferences. More precisely our discussion will stem from the analysis of Stephens and Anderson’s (2001) seminal article. In their study with blue jays they document that foraging behavior typically implements short-sighted choice rules which are beneficial in the long run. Such long-term profitability of short-sighted behavior cannot be evidenced when using a self-control paradigm (one which contrasts in a binary way sooner smaller and later larger payoffs) but becomes apparent when ecological patch-paradigms (replicating economic situations in which the main trade-off consists in staying on a food patch or leaving for another patch) are implemented. We transfer this methodology in view of contrasting foraging strategies and self-control in human intertemporal choices. PMID:22973188

Bourgeois-Gironde, Sacha

2012-01-01

264

Review of short wavelength lasers  

SciTech Connect

There has recently been a substantial amount of research devoted to the development of short wavelength amplifiers and lasers. A number of experimental results have been published wherein the observation of significant gain has been claimed on transitions in the EUV and soft x-ray regimes. The present review is intended to discuss the main approaches to the creation of population inversions and laser media in the short wavelength regime, and hopefully aid workers in the field by helping to provide access to a growing literature. The approaches to pumping EUV and soft x-ray lasers are discussed according to inversion mechanism. The approaches may be divided into roughly seven categories, including collisional excitation pumping, recombination pumping, direct photoionization and photoexcitation pumping, metastable state storage plus optical pumping, charge exchange pumping, and finally, the extension of free electron laser techniques into the EUV and soft x-ray regimes. 250 references.

Hagelstein, P.L.

1985-03-18

265

What Is Energy? Short Demos  

NSDL National Science Digital Library

Three short, hands-on, in-class demos expand students' understand of energy. First, using peanuts and heat, students see how the human body burns food to make energy. Then, students create paper snake mobiles to explore how heat energy can cause motion. Finally, students determine the effect that heat energy from the sun (or a lamp) has on temperature by placing pans of water in different locations.

2014-09-18

266

Short-range communication system  

NASA Technical Reports Server (NTRS)

A short-range communication system includes an antenna, a transmitter, and a receiver. The antenna is an electrical conductor formed as a planar coil with rings thereof being uniformly spaced. The transmitter is spaced apart from the plane of the coil by a gap. An amplitude-modulated and asynchronous signal indicative of a data stream of known peak amplitude is transmitted into the gap. The receiver detects the coil's resonance and decodes same to recover the data stream.

Alhorn, Dean C. (Inventor); Howard, David E. (Inventor); Smith, Dennis A. (Inventor)

2012-01-01

267

Science Shorts: Exploring Insect Vision  

NSDL National Science Digital Library

A fly is buzzing around in the kitchen. You sneak up on it with a flyswatter, but just as you get close to it, it flies away. What makes flies and other insects so good at escaping from danger? The fact that insects have eyesight that can easily detect moving objects is one of the things that helps them survive. This month's Science Shorts examines the interesting world of how insects see.

Damonte, Kathleen

2005-02-01

268

Orogeny can be very short.  

PubMed

In contrast to continent/continent collision, arc-continent collision generates very short-lived orogeny because the buoyancy-driven impedance of the subduction of continental lithosphere, accompanied by arc/suprasubduction-zone ophiolite obduction, is relieved by subduction polarity reversal (flip). This tectonic principle is illustrated by the early Ordovician Grampian Orogeny in the British and Irish Caledonides, in which a wealth of detailed sedimentologic, heavy mineral, and geochronologic data pin the Orogeny to a very short Arenig/Llanvirn event. The Orogeny, from the initial subduction of continental margin sediments to the end of postflip shortening, lasted approximately 18 million years (my). The collisional shortening, prograde-metamorphic phase of the Orogeny lasted 8 my, extensional collapse and exhumation of midcrustal rocks lasted 1.5 my, and postflip shortening lasted 4.5 my. Strain rates were a typical plate-boundary-zone 10(-15). Metamorphism, to the second sillimanite isograd, with extensive partial melting, occurred within a few my after initial collision, indicating that conductive models for metamorphic heat transfer in Barrovian terrains are incorrect and must be replaced by advective models in which large volumes of mafic/ultramafic magma are emplaced, syn-tectonically, below and into evolving nappe stacks. Arc/continent collision generates fast and very short orogeny, regional metamorphism, and exhumation. PMID:16126898

Dewey, John F

2005-10-25

269

Short's Travel Management Online User Guide All Contents are Property of Short's Travel Management  

E-print Network

Short's Travel Management Online User Guide All Contents are Property of Short's Travel Management Last updated 10/10/2011 P a g e 1 SHORT'S TRAVEL ONLINE TRAVELER USER GUIDE #12;Short's Travel Management Online User Guide All Contents are Property of Short's Travel Management Last updated 10/10/2011 P

Harms, Kyle E.

270

Ultra-short pulse generator  

DOEpatents

An inexpensive pulse generating circuit is disclosed that generates ultra-short, 200 picosecond, and high voltage 100 kW, pulses suitable for wideband radar and other wideband applications. The circuit implements a nonlinear transmission line with series inductors and variable capacitors coupled to ground made from reverse biased diodes to sharpen and increase the amplitude of a high-voltage power MOSFET driver input pulse until it causes non-destructive transit time breakdown in a final avalanche shock wave diode, which increases and sharpens the pulse even more. 5 figures.

McEwan, T.E.

1993-12-28

271

Ultra-short pulse generator  

DOEpatents

An inexpensive pulse generating circuit is disclosed that generates ultra-short, 200 picosecond, and high voltage 100 kW, pulses suitable for wideband radar and other wideband applications. The circuit implements a nonlinear transmission line with series inductors and variable capacitors coupled to ground made from reverse biased diodes to sharpen and increase the amplitude of a high-voltage power MOSFET driver input pulse until it causes non-destructive transit time breakdown in a final avalanche shockwave diode, which increases and sharpens the pulse even more.

McEwan, Thomas E. (Livermore, CA)

1993-01-01

272

Recycler short kicker beam impedance  

SciTech Connect

Measured longitudinal and calculated transverse beam impedance is presented for the short kicker magnets being installed in the Fermilab Recycler. Fermi drawing number ME-457159. The longitudinal impedance was measured with a stretched wire and the Panofsky equation was used to estimate the transverse impedance. The impedance of 3319 meters (the Recycler circumference) of stainless vacuum pipe is provided for comparison. Although measurements where done to 3GHz, impedance was negligible above 30MHz. The beam power lost to the kicker impedance is shown for a range of bunch lengths. The measurements are for one kicker assuming a rotation frequency of 90KHz. Seven of these kickers are being installed.

Crisp, Jim; Fellenz, Brian; /Fermilab

2009-07-01

273

Online Short Course: Gravity and Orbits  

NSDL National Science Digital Library

What's holding you down? Join us for the new NSTA Online Short Course: Gravity and Orbits and find out! This short course will explore concepts related to Earth's universal gravitation and how gravity affects the universe arou

1900-01-01

274

Short rotation Wood Crops Program  

SciTech Connect

This report synthesizes the technical progress of research projects in the Short Rotation Woody Crops Program for the year ending September 30, 1989. The primary goal of this research program, sponsored by the US Department of Energy's Biofuels and Municipal Waste Technology Division, is the development of a viable technology for producing renewable feedstocks for conversion to biofuels. One of the more significant accomplishments was the documentation that short-rotation woody crops total delivered costs could be $40/Mg or less under optimistic but attainable conditions. By taking advantage of federal subsidies such as those offered under the Conservation Reserve Program, wood energy feedstock costs could be lower. Genetic improvement studies are broadening species performance within geographic regions and under less-than-optimum site conditions. Advances in physiological research are identifying key characteristics of species productivity and response to nutrient applications. Recent developments utilizing biotechnology have achieved success in cell and tissue culture, somaclonal variation, and gene-insertion studies. Productivity gains have been realized with advanced cultural studies of spacing, coppice, and mixed-species trials. 8 figs., 20 tabs.

Wright, L.L.; Ehrenshaft, A.R.

1990-08-01

275

3. Introduction 16. Short Random Walks  

E-print Network

16. Short Random Walks 17. Combinatorics 23. Meijer-G functions 28. Hypergeometric values of W3, W43. Introduction 16. Short Random Walks 40. Multiple Mahler Measures 47. Log-sine Integrals Mahler Measures, Short Walks and Log-sine Integrals A case study in hybrid computation Jonathan M. Borwein frsc

Borwein, Jonathan

276

4. Introduction 17. Short Random Walks  

E-print Network

17. Short Random Walks 18. Combinatorics 24. Meijer-G functions 29. Hypergeometric values of W3, W44. Introduction 17. Short Random Walks 41. Multiple Mahler Measures 48. Log-sine Integrals Mahler Measures, Short Walks and Log-sine Integrals A case study in hybrid computation Jonathan M. Borwein frsc

Borwein, Jonathan

277

Approaches to Teaching the Short Story.  

ERIC Educational Resources Information Center

Approached from a variety of perspectives, the first nine articles in this special journal issue focus on teaching the short story. Specific topics discussed in the articles are (1) the AIM game as a prereading strategy for teaching the short story, (2) short story readers and writers as partners in the act of artistic communication, (3) oral…

Matthews, Dorothy, Ed.

1983-01-01

278

Texas Watershed Planning Short Course Final Report  

E-print Network

Texas Watershed Planning Short Course Final Report Texas Water Resources Institute Technical Report-390 The Texas Watershed Planning Short Course is hosted and coordinated by the Texas Water... Commission on Environmental Quality COLLEGE OF AGRICULTURE AND LIFE SCIENCES TR-390 2010 Texas Watershed Planning Short Course Final Report By Kevin Wagner Texas Water Resources Institute Prepared for Texas...

Wagner, Kevin

279

Coulomb repulsion in short polypeptides.  

PubMed

Coulomb repulsion between like-charged side chains is presently viewed as a major force that impacts the biological activity of intrinsically disordered polypeptides (IDPs) by determining their spatial dimensions. We investigated short synthetic models of IDPs, purely composed of ionizable amino acid residues and therefore expected to display an extreme structural and dynamic response to pH variation. Two synergistic, custom-made, time-resolved fluorescence methods were applied in tandem to study the structure and dynamics of the acidic and basic hexapeptides Asp6, Glu6, Arg6, Lys6, and His6 between pH 1 and 12. (i) End-to-end distances were obtained from the short-distance Förster resonance energy transfer (sdFRET) from N-terminal 5-fluoro-l-tryptophan (FTrp) to C-terminal Dbo. (ii) End-to-end collision rates were obtained for the same peptides from the collision-induced fluorescence quenching (CIFQ) of Dbo by FTrp. Unexpectedly, the very high increase of charge density at elevated pH had no dynamical or conformational consequence in the anionic chains, neither in the absence nor in the presence of salt, in conflict with the common view and in partial conflict with accompanying molecular dynamics simulations. In contrast, the cationic peptides responded to ionization but with surprising patterns that mirrored the rich individual characteristics of each side chain type. The contrasting results had to be interpreted, by considering salt screening experiments, N-terminal acetylation, and simulations, in terms of an interplay of local dielectric constant and peptide-length dependent side chain charge-charge repulsion, side chain functional group solvation, N-terminal and side chain charge-charge repulsion, and side chain-side chain as well as side chain-backbone interactions. The common picture that emerged is that Coulomb repulsion between water-solvated side chains is efficiently quenched in short peptides as long as side chains are not in direct contact with each other or the main chain. PMID:25470659

Norouzy, Amir; Assaf, Khaleel I; Zhang, Shuai; Jacob, Maik H; Nau, Werner M

2015-01-01

280

Short Pulse Laser Applications Design  

SciTech Connect

We are applying our recently developed, LDRD-funded computational simulation tool to optimize and develop applications of Fast Ignition (FI) for stockpile stewardship. This report summarizes the work performed during a one-year exploratory research LDRD to develop FI point designs for the National Ignition Facility (NIF). These results were sufficiently encouraging to propose successfully a strategic initiative LDRD to design and perform the definitive FI experiment on the NIF. Ignition experiments on the National Ignition Facility (NIF) will begin in 2010 using the central hot spot (CHS) approach, which relies on the simultaneous compression and ignition of a spherical fuel capsule. Unlike this approach, the fast ignition (FI) method separates fuel compression from the ignition phase. In the compression phase, a laser such as NIF is used to implode a shell either directly, or by x rays generated from the hohlraum wall, to form a compact dense ({approx}300 g/cm{sup 3}) fuel mass with an areal density of {approx}3.0 g/cm{sup 2}. To ignite such a fuel assembly requires depositing {approx}20kJ into a {approx}35 {micro}m spot delivered in a short time compared to the fuel disassembly time ({approx}20ps). This energy is delivered during the ignition phase by relativistic electrons generated by the interaction of an ultra-short high-intensity laser. The main advantages of FI over the CHS approach are higher gain, a lower ignition threshold, and a relaxation of the stringent symmetry requirements required by the CHS approach. There is worldwide interest in FI and its associated science. Major experimental facilities are being constructed which will enable 'proof of principle' tests of FI in integrated subignition experiments, most notably the OMEGA-EP facility at the University of Rochester's Laboratory of Laser Energetics and the FIREX facility at Osaka University in Japan. Also, scientists in the European Union have recently proposed the construction of a new FI facility, called HiPER, designed to demonstrate FI. Our design work has focused on the NIF, which is the only facility capable of forming a full-scale hydro assembly, and could be adapted for full-scale FI by the conversion of additional beams to short-pulse operation.

Town, R J; Clark, D S; Kemp, A J; Lasinski, B F; Tabak, M

2008-02-11

281

Science Shorts: Energy in Motion  

NSDL National Science Digital Library

Children experience forces at work while on the playground, in gymnasiums, and in toy stores. Scooters, baseball bats, basketballs, and jump ropes all need pushes or pulls to make them move. When objects change shape as they are pushed or pulled, we say they deform . If the object returns to its original shape when the force is removed, we describe the material as elastic . A rubber band, a balloon, and a spring are all elastic. Objects that remain distorted, such as modeling clay, are often categorizedas plastic. Wherever there is motion, energy is always involved. What causes objects to move? This month's Science Shorts helps students explore the concepts relating to force and motion.

Adams, Barbara

2007-03-01

282

Independent Lens Online Shorts Festival  

NSDL National Science Digital Library

Since its creation a few years ago, the Independent Lens series has worked with various filmmakers and producers to create thoughtful portraits. These portraits have included subjects such as the life of Billy Strayhorn, people living with dystonia, and the world of Ethiopian coffee growers. Recently, they also embarked on yet another ambitious project: an online shorts festival. Visitors to this site can partake of all ten of these films at their leisure. Included are a film that explores a Parisian secret from 1951, a meditation of growing old, and an artist who created a monument out of mud, old paint, and adobe. After viewing the films, visitors are also welcome to leave their comments in the "Talkback" section, submit a film or find out more about the members of the jury for this online film festival.

283

Short-Lived Climate Pollution  

NASA Astrophysics Data System (ADS)

Although carbon dioxide emissions are by far the most important mediator of anthropogenic climate disruption, a number of shorter-lived substances with atmospheric lifetimes of under a few decades also contribute significantly to the radiative forcing that drives climate change. In recent years, the argument that early and aggressive mitigation of the emission of these substances or their precursors forms an essential part of any climate protection strategy has gained a considerable following. There is often an implication that such control can in some way make up for the current inaction on carbon dioxide emissions. The prime targets for mitigation, known collectively as short-lived climate pollution (SLCP), are methane, hydrofluo-rocarbons, black carbon, and ozone. A re-examination of the issues shows that the benefits of early SLCP mitigation have been greatly exaggerated, largely because of inadequacies in the methodologies used to compare the climate effects of short-lived substances with those of CO2, which causes nearly irreversible climate change persisting millennia after emissions cease. Eventual mitigation of SLCP can make a useful contribution to climate protection, but there is little to be gained by implementing SLCP mitigation before stringent carbon dioxide controls are in place and have caused annual emissions to approach zero. Any earlier implementation of SLCP mitigation that substitutes to any significant extent for carbon dioxide mitigation will lead to a climate irreversibly warmer than will a strategy with delayed SLCP mitigation. SLCP mitigation does not buy time for implementation of stringent controls on CO2 emissions.

Pierrehumbert, R. T.

2014-05-01

284

Genetics Home Reference: VLDLR-associated cerebellar hypoplasia  

MedlinePLUS

... that do not look in the same direction (strabismus). Some affected individuals have also had flat feet ( ... population ; prevalence ; protein ; receptor ; recessive ; short stature ; stature ; strabismus ; syndrome ; very low density lipoprotein ; VLDL You may ...

285

Genetics Home Reference: Septo-optic dysplasia  

MedlinePLUS

... produces several hormones. These hormones help control growth, reproduction, and other critical body functions. Underdevelopment of the ... optic nerve ; pattern of inheritance ; pituitary gland ; recessive ; reproduction ; risk factors ; septum ; short stature ; SOD ; sporadic ; stature ; ...

286

Genetics Home Reference: Baraitser-Winter syndrome  

MedlinePLUS

... Aftimos syndrome iris coloboma with ptosis, hypertelorism, and mental retardation For more information about naming genetic conditions, see ... developmental delay ; disability ; dystonia ; expressed ; gene ; hypertelorism ; involuntary ; ... neuronal migration ; philtrum ; ptosis ; short stature ; stature ; syndrome ...

287

Genetics Home Reference: Coffin-Lowry syndrome  

MedlinePLUS

... do people use for Coffin-Lowry syndrome? CLS Mental retardation with osteocartilaginous abnormalities For more information about naming ... cell ; chromosome ; disability ; gene ; incidence ; inheritance ; inherited ; ... microcephaly ; protein ; sex chromosomes ; short stature ; stature ; syndrome ; ...

288

Short GRB Prompt and Afterglow Correlations  

NASA Technical Reports Server (NTRS)

The Swift data set on short GRBs has now grown large enough to study correlations of key parameters. The goal is to compare long and short bursts to better understand similarities and differences in the burst origins. In this study we consider the both prompt and afterglow fluxes. It is found that the optical, X-ray and gamma-ray emissions are linearly correlated - stronger bursts tend to have brighter afterglows, and bursts with brighter X-ray afterglow tend to have brighter optical afterglow. Both the prompt and afterglow fluxes are, on average, lower for short bursts than for long. Although there are short GRBs with undetected optical emission, there is no evidence for "dark" short bursts with anomalously low opt/X ratios. The weakest short bursts have a low X-ray/gamma-ray ratio.

Gehrels, Neil

2007-01-01

289

Onboard Short Term Plan Viewer  

NASA Technical Reports Server (NTRS)

Onboard Short Term Plan Viewer (OSTPV) is a computer program for electronic display of mission plans and timelines, both aboard the International Space Station (ISS) and in ISS ground control stations located in several countries. OSTPV was specifically designed both (1) for use within the limited ISS computing environment and (2) to be compatible with computers used in ground control stations. OSTPV supplants a prior system in which, aboard the ISS, timelines were printed on paper and incorporated into files that also contained other paper documents. Hence, the introduction of OSTPV has both reduced the consumption of resources and saved time in updating plans and timelines. OSTPV accepts, as input, the mission timeline output of a legacy, print-oriented, UNIX-based program called "Consolidated Planning System" and converts the timeline information for display in an interactive, dynamic, Windows Web-based graphical user interface that is used by both the ISS crew and ground control teams in real time. OSTPV enables the ISS crew to electronically indicate execution of timeline steps, launch electronic procedures, and efficiently report to ground control teams on the statuses of ISS activities, all by use of laptop computers aboard the ISS.

Hall, Tim; LeBlanc, Troy; Ulman, Brian; McDonald, Aaron; Gramm, Paul; Chang, Li-Min; Keerthi, Suman; Kivlovitz, Dov; Hadlock, Jason

2011-01-01

290

Short paths in expander graphs  

SciTech Connect

Graph expansion has proved to be a powerful general tool for analyzing the behavior of routing algorithms and the interconnection networks on which they run. We develop new routing algorithms and structural results for bounded-degree expander graphs. Our results are unified by the fact that they are all based upon, and extend, a body of work asserting that expanders are rich in short, disjoint paths. In particular, our work has consequences for the disjoint paths problem, multicommodify flow, and graph minor containment. We show: (i) A greedy algorithm for approximating the maximum disjoint paths problem achieves a polylogarithmic approximation ratio in bounded-degree expanders. Although our algorithm is both deterministic and on-line, its performance guarantee is an improvement over previous bounds in expanders. (ii) For a multicommodily flow problem with arbitrary demands on a bounded-degree expander, there is a (1 + {epsilon})-optimal solution using only flow paths of polylogarithmic length. It follows that the multicommodity flow algorithm of Awerbuch and Leighton runs in nearly linear time per commodity in expanders. Our analysis is based on establishing the following: given edge weights on an expander G, one can increase some of the weights very slightly so the resulting shortest-path metric is smooth - the min-weight path between any pair of nodes uses a polylogarithmic number of edges. (iii) Every bounded-degree expander on n nodes contains every graph with O(n/log{sup O(1)} n) nodes and edges as a minor.

Kleinberg, J. [MIT, Cambridge, MA (United States); Rubinfeld, R. [Cornell Univ., Ithaca, NY (United States)

1996-12-31

291

Short Forms of Individual Intelligence Tests  

Microsoft Academic Search

The literature on short forms of individual intelligence tests—Wechsler's scales in particular—is critically reviewed. The review is structured around four choice-points faced by those who study short forms: how to abbreviate the original scale, what kind of subject sample to use, how to estimate IQs on the original scale, and what criteria to apply in evaluating a short form. The

A. B. Silverstein

1990-01-01

292

Why Do Emerging Markets Borrow Short Term?  

Microsoft Academic Search

This paper argues that the investor side of capital markets is important to understand why emerging markets borrow short term. We present a model where the risk premia on short- and long-term debt and the optimal maturity structure are jointly determined. The model shows that high risk premia on long-term bonds can lead countries to rely on short-term debt at

Fernando A. Broner

293

Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals.  

PubMed

We report a new patient with terminal deletion of chromosome 2 with breakpoint at 2q36 and five additional new patients with 2q terminal deletion with breakpoint at 2q37. Hemidiaphragmatic hernia is a novel finding in one patient with a breakpoint at 2q37.1. In comparing these patients to 60 previously reported individuals with 2q terminal deletions, certain physical abnormalities are loosely associated with positions of breakpoint. For example, facial features (e.g., prominent forehead, depressed nasal bridge, and dysmorphic ears and nose), short stature, and short hands and feet were frequent in patients with breakpoints at or proximal to 2q37.3. Reports of horseshoe kidney and Wilms tumor were limited to patients with a breakpoint at 2q37.1, and structural brain anomalies and tracheal anomalies were reported only in patients with breakpoints at or proximal to 2q37.1. Cleft palate was reported only in patients with the most proximal breakpoints (2q36 or 2q35). Neurological effects including developmental delay, mental retardation, autistic-like behavior, and hypotonia were typical in this patient population but did not stratify in severity according to breakpoint. Terminal deletion of the long arm of chromosome 2 should be considered in the infant with marked hypotonia, poor feeding, gastroesophageal reflux, and growth delay, and the older child with developmental delay, autistic behavior, and the characteristic facial and integumentary features described herein. Assignment of clinical features to specific breakpoints and refinement of predictive value may be useful in counseling. PMID:15386475

Casas, Kari A; Mononen, Tarja K; Mikail, Claudia N; Hassed, Susan J; Li, Shibo; Mulvihill, John J; Lin, Henry J; Falk, Rena E

2004-11-01

294

Short QT syndrome presenting as syncope: how short is too short?  

PubMed

We report the case of a 52-year-old man who presented to our emergency department (ED) after three episodes of syncope in the seven hours before admission. During his stay in the ED he had recurrent ventricular tachycardia (VT) requiring external electrical cardioversion. A 12-lead electrocardiogram (ECG) showed a short QT (SQT) interval (270 ms, QTc 327 ms), with frequent R-on-T extrasystoles triggering sustained polymorphic VT. After exclusion of other precipitating causes, the patient was diagnosed as having SQT syndrome (SQTS) according to the Gollob criteria. To our knowledge, this is the first known documentation of an SQT-caused arrhythmic episode on a 12-lead ECG, as well as the first reported case of SQTS in Portugal. The patient received an implantable cardioverter-defibrillator and was discharged. At a follow-up assessment 14 months later he was symptom-free, interrogation of the device showed no arrhythmic events, and the ECG showed a QT interval of 320 ms (QTc 347 ms). PMID:25442000

Portugal, Guilherme; Martins Oliveira, Mário; Silva Cunha, Pedro; Ferreira, Filipa; Lousinha, Ana; Fiarresga, António; Nogueira da Silva, Manuel; Cruz Ferreira, Rui

2014-10-01

295

The Demonstration of Short-Term Consolidation.  

ERIC Educational Resources Information Center

Results of seven experiments involving 112 college students or staff using a dual-task approach provide evidence that encoding information into short-term memory involves a distinct process termed short-term consolidation (STC). Results suggest that STC has limited capacity and that it requires central processing mechanisms. (SLD)

Jolicoeur, Pierre; Dell'Acqua, Roberto

1998-01-01

296

Life prediction of short fiber composites  

Microsoft Academic Search

A procedure is described for estimating the fatigue lives (i.e. the number of cycles to failure) of parts made of short fiber reinforced thermoplastic matrix composites. First, S-N curves were generated at stress ratios of R = 0 and R = -1 for short glass fiber reinforced Copolyamide coupons with 0° (30% or 50% fiber content by weight), 45° (50%

Alessandro Zago

2002-01-01

297

4. Introduction 17. Short Random Walks  

E-print Network

-G functions 29. Hypergeometric values of W3, W4 32. Probability and Bessel J 40. Derivative values of W3, W4 34. Introduction 17. Short Random Walks 41. Multiple Mahler Measures 48. Log-sine Integrals Mahler Measures, Short Walks and Log-sine Integrals A case study in hybrid computation Jonathan M. Borwein frsc

Borwein, Jonathan

298

Register of Validated Short Dietary Assessment Instruments  

Cancer.gov

Welcome to the Register of Validated Short Dietary Assessment Instruments. Unlike food records and 24-hour dietary recalls that aim to capture the total diet, short instruments assess limited aspects of the diet and are thus less burdensome for respondents and researchers.

299

The Short Story as HyperStory.  

ERIC Educational Resources Information Center

A software application called HyperStory is a reading program for short fiction which has proved to be effective in the classroom. In 3 years of use, over 300 students have tried it out. Part of the reason for its suitability for helping students develop short story reading skills lies in the relationship between the computer technology known as…

May, Charles E.

300

Short Form of the Developmental Behaviour Checklist  

ERIC Educational Resources Information Center

A 24-item short form of the 96-item Developmental Behaviour Checklist was developed to provide a brief measure of Total Behaviour Problem Score for research purposes. The short form Developmental Behaviour Checklist (DBC-P24) was chosen for low bias and high precision from among 100 randomly selected item sets. The DBC-P24 was developed from…

Taffe, John R.; Gray, Kylie M.; Einfeld, Stewart L.; Dekker, Marielle C.; Koot, Hans M.; Emerson, Eric; Koskentausta, Terhi; Tonge, Bruce J.

2007-01-01

301

Biomass estimation procedures in short rotation forestry  

Microsoft Academic Search

Biomass estimation procedures in short rotation forestry vary in their methodology, complexity and time demand depending on the specific aim of the estimation operation. In commercial short rotation forestry, estimates of harvestable biomass often are used to decide on harvest timing or continued management and to calculate economic gains under the actual market situation. For research purposes, weight estimates of

Theo Verwijst; Björn Telenius

1999-01-01

302

Short chain fatty acids are effective in short-term treatment of chronic radiation proctitis  

Microsoft Academic Search

PURPOSE: Short chain fatty acids are the main energy source of coloncytes and their use may be impaired in chronic radiation proctitis. The aim of the present study was to evaluate the therapeutic effect of short chain fatty acid enemas in patients with chronic radiation proctitis. METHODS: A prospective, randomized, double-blind trial comparing short chain fatty acid enemas with placebo

Anabela Pinto; Paulo Fidalgo; Marília Cravo; Jaime Midőes; Paula Chaves; Joaninha Rosa; Maria dos Anjos Birto; Carlos Nobre Leităo

1999-01-01

303

Precursors of Short Gamma-Ray Bursts  

NASA Technical Reports Server (NTRS)

We carried out a systematic search of precursors on the sample of short GRBs observed by Swift. We found that approx. 8-10% of short GRBs display such early episode of emission. One burst (GRB 090510) shows two precursor events, the former approx.13 s and the latter approx. 0.5 s before the GRB. We did not find any substantial difference between the precursor and the main GRB emission, and between short GRBs with and without precursors. We discuss possible mechanisms to reproduce the observed precursor emission within the scenario of compact object mergers. The implications of our results on quantum gravity constraints are also discussed.

Troja, E.; Rosswog, S.; Gehrels, N.

2010-01-01

304

New findings in short rib syndrome.  

PubMed

This white infant, born at 37 weeks of gestation, had a large cranium, bilateral anophthalmia, a midline cleft lip and palate, hypoplastic chest with short ribs, slightly protuberant abdomen, short limbs, bilateral single transverse palmar creases, a single umbilical artery, normal female external genitalia, normal (46 XY) chromosomes, and radiographic findings suggesting a short-rib (polydactyly) syndrome type IV (Beemer-Langer). Autopsy showed pulmonary hypoplasia, bilateral renal cystic dysplasia, intrahepatic bile duct cysts with periportal fibrosis, pancreatic cysts, absent internal genitalia, an atrophic optic chiasm, absent optic nerves, a single left anterior cerebral artery, polymicrogyria, and fusion of the frontal lobes, preoptic region, mammillary bodies, and thalami. PMID:8488867

Cideciyan, D; Rodriguez, M M; Haun, R L; Abdenour, G E; Bruce, J H

1993-05-15

305

Short rib-polydactyly syndrome, Majewski type.  

PubMed

A term infant had dwarfism with characteristic skeletal and extraskeletal changes of the short rib-polydactyly syndrome type 2 (Majewski). The skeletal changes included extremely short horizontal ribs, extreme micromelia with disproportionately short ovoid tibiae, and pre- and post-axial polydactyly. Microscopically, cartilage showed markedly stunted and disorganized endochondral ossification. Extraskeletal manifestations were hydrops, cleft lip, malformed larynx with hypoplastic epiglottis, pulmonary hypoplasia, glomerular and renal tubular cysts, ambiguous genitalia, pachygyria and small cerebellar vermis. Parental consanguinity supports the hypothesis of autosomal recessive inheritance of the condition. PMID:7468649

Chen, H; Yang, S S; Gonzalez, E; Fowler, M; Al Saadi, A

1980-01-01

306

High current short pulse ion sources  

SciTech Connect

High current short pulse ion beams can be generated by using a multicusp source. This is accomplished by switching the arc or the RF induction discharge on and off. An alternative approach is to maintain a continuous plasma discharge and extraction voltage but control the plasma flow into the extraction aperture by a combination of magnetic and electric fields. Short beam pulses can be obtained by using a fast electronic switch and a dc bias power supply. It is also demonstrated that very short beam pulses ({approximately} 10 {micro}s) with high repetition rate can be formed by a laser-driven LaB{sub 6} or barium photo-cathode.

Leung, K.N. [Lawrence Berkeley National Lab., CA (United States). Accelerator and Fusion Research Div.

1996-08-01

307

Short Specialist Review 99. Measuring evolutionary  

E-print Network

FIR ST PAG E PR O O FS Short Specialist Review 99. Measuring evolutionary constraints as protein properties reflecting underlying mechanisms Andrew F. Neuwald Cold Spring Harbor Laboratory, Cold Spring

Liu, Jun

308

Online Courses: NSTA Online Short Course: Energy  

NSDL National Science Digital Library

Confounded by kinetic and potential energy? Intimidated by thermal energy and heat? Mystified by the concepts of conduction, convection, and radiation? You are not alone. The NSTA Online Short Course: Energy is the perfect course for science teachers inte

1900-01-01

309

Microbial production of short chain diols.  

PubMed

Short chain diols (propanediols, butanediols, pentanediols) have been widely used in bulk and fine chemical industries as fuels, solvents, polymer monomers and pharmaceutical precursors. The chemical production of short chain diols from fossil resources has been developed and optimized for decades. Consideration of the exhausting fossil resources and the increasing environment issues, the bio-based process to produce short chain diols is attracting interests. Currently, a variety of biotechnologies have been developed for the microbial production of the short chain diols from renewable feed-stocks. In order to efficiently produce bio-diols, the techniques like metabolically engineering the production strains, optimization of the fermentation processes, and integration of a reasonable downstream recovery processes have been thoroughly investigated. In this review, we summarized the recent development in the whole process of bio-diols production including substrate, microorganism, metabolic pathway, fermentation process and downstream process. PMID:25491899

Jiang, Yudong; Liu, Wei; Zou, Huibin; Cheng, Tao; Tian, Ning; Xian, Mo

2014-12-10

310

Intentionally Short-Range Communications (ISRC)  

NASA Astrophysics Data System (ADS)

The U.S. Marine Corps (USMC) desired to develop short-range communications links whose ranges are intentionally limited to very short distances. These links support tactical missions such as LAN Backbone, Wideband Data Link, and Company Radio. The short-range limitation arises from the need for low probability of detection and intercept (LPD/LPI). Since the detection of an undecipherable transmission would still provide an enemy with information regarding transmitter location and allow him to take countermeasures, the Marine Corps Systems Command (MARCORSYSCOM) is sponsoring the development of technologies that can be LPD by their very nature. The Intentionally Short-Range Communications (ISRC) project at the Naval Command, Control and Ocean Surveillance Center (NCCOSC) RDT&E Division (NRaD) is pursuing feasibility studies for these USMC missions based on such technologies as ultraviolet (LTV) lamps, UV lasers, infrared (IR) lasers, millimeter waves and direct sequence spread spectrum (DSSS) at radio frequencies.

Yen, J.; Poirier, P.; Obrien, M.

1994-02-01

311

Short rib polydactyly syndrome-Type I.  

PubMed

Short rib polydactyly syndrome (SRPS) consists of a group of lethal skeletal dysplasias presenting with short limbs and ribs, hypoplastic thorax and polydactyly with or without visceral abnormalities. The authors report a case of SRPS in a fresh stillborn baby who had these features along with dysplastic kidneys. Clinical and radiological findings in this baby were consistent with SRPS - Type I (Saldino-Noonan Type). The diagnosis of SRPS, as in this case, can be made by antenatal ultrasonography. PMID:15107523

Sridhar, S; Kishore, Ravi; Thomas, Niranjan; Jana, Atanu Kumar

2004-04-01

312

Are shorted pipeline casings a problem  

SciTech Connect

The pipeline industry has many road and railroad crossings with casings which have been in service for more than 50 years without exhibiting any major problems, regardless of whether the casing is shorted to or isolated from the carrier pipe. The use of smart pigging and continual visual inspection when retrieving a cased pipeline segment have shown that whether shorted or isolated, casings have no significant bearing on the presence or absence of corrosion on the carrier pipe.

Gibson, W.F. (Transcontinental Gas Pipeline Corp., Houston, TX (United States))

1994-11-01

313

19 CFR 207.27 - Short life cycle products.  

Code of Federal Regulations, 2014 CFR

...2014-04-01 2014-04-01 false Short life cycle products. 207.27 Section 207.27...THE UNITED STATES Final Determinations, Short Life Cycle Products § 207.27 Short life cycle products. (a) An eligible...

2014-04-01

314

19 CFR 207.27 - Short life cycle products.  

Code of Federal Regulations, 2013 CFR

...2013-04-01 2013-04-01 false Short life cycle products. 207.27 Section 207.27...THE UNITED STATES Final Determinations, Short Life Cycle Products § 207.27 Short life cycle products. (a) An eligible...

2013-04-01

315

19 CFR 207.27 - Short life cycle products.  

Code of Federal Regulations, 2012 CFR

...2012-04-01 2012-04-01 false Short life cycle products. 207.27 Section 207.27...THE UNITED STATES Final Determinations, Short Life Cycle Products § 207.27 Short life cycle products. (a) An eligible...

2012-04-01

316

19 CFR 207.27 - Short life cycle products.  

Code of Federal Regulations, 2010 CFR

...2010-04-01 2010-04-01 false Short life cycle products. 207.27 Section 207.27...THE UNITED STATES Final Determinations, Short Life Cycle Products § 207.27 Short life cycle products. (a) An eligible...

2010-04-01

317

19 CFR 207.27 - Short life cycle products.  

Code of Federal Regulations, 2011 CFR

...2011-04-01 2011-04-01 false Short life cycle products. 207.27 Section 207.27...THE UNITED STATES Final Determinations, Short Life Cycle Products § 207.27 Short life cycle products. (a) An eligible...

2011-04-01

318

30 CFR 56.12065 - Short circuit and lightning protection.  

Code of Federal Regulations, 2014 CFR

...2014-07-01 2014-07-01 false Short circuit and lightning protection. 56.12065...MINES Electricity § 56.12065 Short circuit and lightning protection. Powerlines, including trolley wires, and telephone circuits shall be protected against short...

2014-07-01

319

Naked Short Selling: Is it Information-Based Trading?  

E-print Network

short selling component of total short interest is significantly associated with accounting and market fundamentals, indicating proper information usage. Further, naked short interest is highly significant in predicting one-quarter ahead abnormal stock...

Liu, Hu

2012-10-19

320

Means for limiting and ameliorating electrode shorting  

DOEpatents

A fuse and filter arrangement for limiting and ameliorating electrode shorting in capacitive deionization water purification systems utilizing carbon aerogel, for example. This arrangement limits and ameliorates the effects of conducting particles or debonded carbon aerogel in shorting the electrodes of a system such as a capacitive deionization water purification system. This is important because of the small interelectrode spacing and the finite possibility of debonding or fragmentation of carbon aerogel in a large system. The fuse and filter arrangement electrically protect the entire system from shutting down if a single pair of electrodes is shorted and mechanically prevents a conducting particle from migrating through the electrode stack, shorting a series of electrode pairs in sequence. It also limits the amount of energy released in a shorting event. The arrangement consists of a set of circuit breakers or fuses with one fuse or breaker in the power line connected to one electrode of each electrode pair and a set of screens of filters in the water flow channels between each set of electrode pairs.

Van Konynenburg, Richard A. (Livermore, CA); Farmer, Joseph C. (Tracy, CA)

1999-01-01

321

MLL2 and KDM6A mutations in patients with Kabuki syndrome.  

PubMed

Kabuki syndrome is a congenital anomaly syndrome characterized by developmental delay, intellectual disability, specific facial features including long palpebral fissures and ectropion of the lateral third of the lower eyelids, prominent digit pads, and skeletal and visceral abnormalities. Mutations in MLL2 and KDM6A cause Kabuki syndrome. We screened 81 individuals with Kabuki syndrome for mutations in these genes by conventional methods (n = 58) and/or targeted resequencing (n = 45) or whole exome sequencing (n = 5). We identified a mutation in MLL2 or KDM6A in 50 (61.7%) and 5 (6.2%) cases, respectively. Thirty-five MLL2 mutations and two KDM6A mutations were novel. Non-protein truncating-type MLL2 mutations were mainly located around functional domains, while truncating-type mutations were scattered through the entire coding region. The facial features of patients in the MLL2 truncating-type mutation group were typical based on those of the 10 originally reported patients with Kabuki syndrome; those of the other groups were less typical. High arched eyebrows, short fifth finger, and hypotonia in infancy were more frequent in the MLL2 mutation group than in the KDM6A mutation group. Short stature and postnatal growth retardation were observed in all individuals with KDM6A mutations, but in only half of the group with MLL2 mutations. PMID:23913813

Miyake, Noriko; Koshimizu, Eriko; Okamoto, Nobuhiko; Mizuno, Seiji; Ogata, Tsutomu; Nagai, Toshiro; Kosho, Tomoki; Ohashi, Hirofumi; Kato, Mitsuhiro; Sasaki, Goro; Mabe, Hiroyo; Watanabe, Yoriko; Yoshino, Makoto; Matsuishi, Toyojiro; Takanashi, Jun-ichi; Shotelersuk, Vorasuk; Tekin, Mustafa; Ochi, Nobuhiko; Kubota, Masaya; Ito, Naoko; Ihara, Kenji; Hara, Toshiro; Tonoki, Hidefumi; Ohta, Tohru; Saito, Kayoko; Matsuo, Mari; Urano, Mari; Enokizono, Takashi; Sato, Astushi; Tanaka, Hiroyuki; Ogawa, Atsushi; Fujita, Takako; Hiraki, Yoko; Kitanaka, Sachiko; Matsubara, Yoichi; Makita, Toshio; Taguri, Masataka; Nakashima, Mitsuko; Tsurusaki, Yoshinori; Saitsu, Hirotomo; Yoshiura, Ko-ichiro; Matsumoto, Naomichi; Niikawa, Norio

2013-09-01

322

The origin of short-period comets  

SciTech Connect

If the observed number of short-period comets can be accounted for by a spherically symmetric model of the Oort cloud, in conjunction with an inner core of merely moderate central concentration, then the observed correlation between the ecliptic plane and the inclinations of Jupiter-family short-period comets may be seen as partly due to the calculated decrease in capture probability with inclination, and partly to the effects of cometary decay and observational selection. The implied constraint on the inner core becomes even more severe, if a hypothetical comet disk in the Uranus-Neptune zone either makes a significant contribution to the observed short-period comets or if these comets' mean lifetime is greater than 3000 years. 32 refs.

Bailey, M.E.; Stagg, C.R. (Manchester Victoria Univ. (England) Calgary Univ. (Canada))

1990-07-01

323

Tensile properties of short-glass-fiber- and short-carbon-fiber-reinforced polypropylene composites  

Microsoft Academic Search

Composites of polypropylene (PP) reinforced with short glass fibers (SGF) and short carbon fibers (SCF) were prepared with extrusion compounding and injection molding techniques. The tensile properties of these composites were investigated. It was noted that an increase in fiber volume fraction led to a decrease in mean fiber length as observed previously. The relationship between mean fiber length and

S.-Y Fu; B Lauke; E Mäder; C.-Y Yue; X Hu

2000-01-01

324

Short Wavelength Technology and the Potential for Distributed Networks of Short-Range Radar Systems  

E-print Network

Short Wavelength Technology and the Potential for Distributed Networks of Short-Range Radar Systems's curvature and terrain-induced blockage. For example, the WSR-88D (NEXRAD) system is unable to view ~ 80 due to the Earth's curvature and improve resolution degradation caused by beam spreading. In addition

Cruz-Pol, Sandra L.

325

Mechanisms of small clusters production by short and ultra-short laser ablation  

E-print Network

, the laser ablation process is often described by a thermal desorption model, which considers the ablationMechanisms of small clusters production by short and ultra-short laser ablation Tatiana E. Itina a The mechanisms involved into the formation of clusters by pulsed laser ablation are studied both numerically

Zhigilei, Leonid V.

326

Life prediction of short fiber composites  

NASA Astrophysics Data System (ADS)

A procedure is described for estimating the fatigue lives (i.e. the number of cycles to failure) of parts made of short fiber reinforced thermoplastic matrix composites. First, S-N curves were generated at stress ratios of R = 0 and R = -1 for short glass fiber reinforced Copolyamide coupons with 0° (30% or 50% fiber content by weight), 45° (50% fiber content) and 90° (30% or 50% fiber content) fiber orientations. Second, these S-N curves were compared to data reported in the literature for a wide range of short glass and short carbon fiber reinforced thermoplastics materials. On the basis of these comparison, all available data were "collapsed" on two S-N curves, one for R = 0 and one for R = -l. The fatigue lives of short fiber reinforced thermoplastics were modeled by a Generalized Miner's Rule. Tests were conducted measuring the fatigue lives of 150 by 10 by 2 mm short glass fiber reinforced Copolyamide coupons under different types of cyclic loads. The fatigue lives measured in these tests were compared to those provided by the Generalized Miner's Rule, and good agreements were found between the test and model results. The fatigue lives of two different parts (made of short glass fiber reinforced Copolyamide) were then investigated. The first one was a 150 by 10 by 4 mm coupon with a 2 mm hole at the center. The second one was an automotive gear shift link. The fiber orientations and the stresses inside these parts were calculated, respectively, by the commercial softwares C-Mold and by ABAQUS. The fatigue lives under different cyclic loads were measured; they were also calculated by the Generalized Miner's Rule together with the results of C-Mold and ABAQUS and the S-N data generated in this study. Comparisons between the measured and estimated (by the model) fatigue lives are in reasonable agreement, indicating that the procedure employed is a useful tool for estimating the fatigue lives of parts made of short fiber reinforced thermoplastics.

Zago, Alessandro

327

Catalysts for synthesizing various short chain hydrocarbons  

DOEpatents

Method and apparatus (10), including novel photocatalysts, are disclosed for the synthesis of various short chain hydrocarbons. Light-transparent SiO.sub.2 aerogels doped with photochemically active uranyl ions (18) are fluidized in a fluidized-bed reactor (12) having a transparent window (16), by hydrogen and CO, C.sub.2 H.sub.4 or C.sub.2 H.sub.6 gas mixtures (20), and exposed to radiation (34) from a light source (32) external to the reactor (12), to produce the short chain hydrocarbons (36).

Colmenares, Carlos (Alamo, CA)

1991-01-01

328

Heating Augmentation for Short Hypersonic Protuberances  

NASA Technical Reports Server (NTRS)

Computational aeroheating analyses of the Space Shuttle Orbiter plug repair models are validated against data collected in the Calspan University of Buffalo Research Center (CUBRC) 48 inch shock tunnel. The comparison shows that the average difference between computed heat transfer results and the data is about 9.5%. Using CFD and Wind Tunnel (WT) data, an empirical correlation for estimating heating augmentation on short hypersonic protuberances (k/delta less than 0.3) is proposed. This proposed correlation is compared with several computed flight simulation cases and good agreement is achieved. Accordingly, this correlation is proposed for further investigation on other short hypersonic protuberances for estimating heating augmentation.

Mazaheri, Ali R.; Wood, William A.

2008-01-01

329

Multiconductor Short/Open Cable Tester  

NASA Technical Reports Server (NTRS)

Frequent or regular testing of multiconductor cables terminated in multipin conductors tedious, if not impossible, task. This inexpensive circuit simplifies open/short testing and is amenable to automation. In operation, pair of connectors selected to match pair of connectors installed on each of cables to be tested. As many connectors accommodated as required, and each can have as many conductors as required. Testing technique implemented with this circuit automated easily with electronic controls and computer interface. Printout provides status of each conductor in cable, indicating which, if any, of conductors has open or short circuit.

Eichenberg, Dennis

1994-01-01

330

Short Communication Microscopic analysis of structure stabilities  

E-print Network

. This new combination of two classical methods allows a progressive discovery of the microscopic relevant2005 Short Communication Microscopic analysis of structure stabilities in the ionic compounds B primary order distortion, and thus find the microscopic interactions responsible for the symmetry breaking

Boyer, Edmond

331

LIFE with Short-Term Memory  

NASA Astrophysics Data System (ADS)

This chapter considers an extension to the standard framework of cellular automata in which, cells are endowed with memory of their previous state values. The effect of short-term memory, i.e., memory of only the latest states, in the (formally unaltered) Life rule is described in this work.

Alonso-Sanz, Ramón

332

Nutritional aspects of the short bowel syndrome  

Microsoft Academic Search

Adequate oral nutrition in patients with short bowel syndrome after operation is limited by the amount of intestine left after resection. The remnant small intestine has an important capacity to compensate for the loss of mucosal tissue and develops intestinal hyperplasia when stimulated by a variety of luminal and extraluminal factors such as nutrients, pancreatic biliary secretions, growth factors and

M. J. Lentze

1988-01-01

333

Feminist Short Fiction: New Forms and Styles.  

ERIC Educational Resources Information Center

This paper examines the stylistic changes that have occurred since 1850 in short fiction written by women. A shift is noted from the sentimental, romantic, "pretty" writing of the past to today's more realistic writing, with its characteristically vivid imagery. Discussion defines the term "feminist fiction" and shows how today's women writers are…

Dean, Nancy

334

Electronic Structure of Short Carbon Nanobells  

Microsoft Academic Search

We performed local density functional calculations for the electronic structure of short carbon nanobells. The calculated local density of states of the nanobells revealed field emission characteristics that agree with experimental observations. We also performed total energy calculations to study the structural stability and a related possible growth mechanism of the nanobells. In the nitrogen-doped carbon nanobells, nitrogen atoms that

G. L. Zhao; D. Bagayoko; E. G. Wang

2003-01-01

335

VIROLOGY 214, 289293 (1995) SHORT COMMUNICATION  

E-print Network

VIROLOGY 214, 289­293 (1995) SHORT COMMUNICATION Dimerization of the Human Papillomavirus E7 to show that human papillomavirus E7 proteins can form oligomeric complexes in vivo. The carboxyl, Inc. Papillomaviruses are small DNA viruses which infect proteins including the retinoblastoma tumor

Brent, Roger

336

Short single axioms for boolean algebra.  

SciTech Connect

We present short single equational axioms for Boolean algebra in terms of disjunction and negation and in terms of the Sheffer stroke. Previously known single axioms for these theories are much longer than the ones we present. We show that there is no shorter axiom in terms of the Sheffer stroke. Automated deduction techniques were used in several parts of the work.

McCune, W.; Veroff, R.; Fitelson, B.; Harris, K.; Feist, A.; Wos, L.; Mathematics and Computer Science; Univ. of New Mexico; Univ. of Wisconsin at Madison; Duke Univ.

2002-01-01

337

SHORT-TUBE SUBCRITICAL FLOW Enerag Division  

E-print Network

ratio, L/D, varying from 7.5 to 11.9 were tested on a heat pump system, with R-22 as the fluid, over water two phase critical flow [1-6]. In the air conditioning and refrigeration field, short tubes saturation pressure so that first stage choking is not likely to happen [6]. Also, the liquid upstream

Oak Ridge National Laboratory

338

Short submillimeter operation of the Planar Orotron  

Microsoft Academic Search

Recent experimental results demonstrating Planar Orotron operation in the short submillimeter wavelength regime of 1 mm to 400 mum are presented. This device belongs to the class of Smith-Purcell free electron lasers that utilize periodic metal grating structures to support electromagnetic waves with phase velocities lower than the speed of light. The J.E interaction between this slow wave and a

E. J. Price; J. E. Walsh; M. F. Kimmitt

1991-01-01

339

Blacks in Pop Music: A Short Story.  

ERIC Educational Resources Information Center

A short history of black pop music includes artists who have changed pop music or culture and highlights from the 1920s into the 1980s, from Fats Waller to Michael Jackson. In black pop music, there is a direct line of influence from the sharecropper to the current Top 40. (SLD)

Rickelman, Melinda

1991-01-01

340

SHORT REVIEW Ecological genomics: understanding gene and  

E-print Network

SHORT REVIEW Ecological genomics: understanding gene and genome function in the natural environment MC Ungerer, LC Johnson and MA Herman Division of Biology, Ecological Genomics Institute, Kansas State University, Manhattan, KS, USA The field of ecological genomics seeks to understand the genetic mechanisms

Kaufman, Glennis A.

341

SHORT COMMUNICATION Modelling the concentration of exuded  

E-print Network

SHORT COMMUNICATION Modelling the concentration of exuded dimethylsulphoniopropionate (DMSP source for planktonic bacteria has long been recognized (e.g. Cole, 1982). Recently, Fredrickson for marine bacteria (Kiene et al., 2000), DMSP has also been shown to act as a chemoattractant for bacteria

Codling, Edward A.

342

Summer School and Short Programme Scholarship application  

E-print Network

Summer School and Short Programme Scholarship application Please return this form, with the exception of: undergraduates in their final year of study, where the intended period of summer school study takes place after the end of Summer Term; international students applying for a summer school

Mumby, Peter J.

343

Short-pulse laser materials processing  

SciTech Connect

While there is much that we have learned about materials processing in the ultrashort-pulse regime, there is an enormous amount that we don`t know. How short does the pulse have to be to achieve a particular cut (depth, material, quality)? How deep can you cut? What is the surface roughness? These questions are clearly dependent upon the properties of the material of interest along with the short-pulse interaction physics. From a technology standpoint, we are asked: Can you build a 100 W average power system ? A 1000 W average power system? This proposal seeks to address these questions with a combined experimental and theoretical program of study. Specifically, To develop an empirical database for both metals and dielectrics which can be used to determine the pulse duration and wavelength necessary to achieve a specific machining requirement. To investigate Yb:YAG as a potential laser material for high average power short-pulse systems both directly and in combination with titanium doped sapphire. To develop a conceptual design for a lOOW and eventually 5OOW average power short-pulse system.

Stuart, B.C.; Perry, M.D.; Myers, B.R.; Banks, P.S.; Honea, E.C.

1997-06-18

344

Short term storage of natural gas  

Microsoft Academic Search

Linde AG developed a method to reduce the energy losses occurring during natural gas cooling, liquefaction, and storage by providing a cryophore to absorb and emit the heat as needed. Such a system is particularly suited for short-term fluctuations in demand. In such an application, excess natural gas is liquefied at night by heat exchange with the cold cryophore, and

1973-01-01

345

Passive Semantics: Ambiguity of the Short Passive.  

ERIC Educational Resources Information Center

Presents clues for determining whether "short passives," passive sentences from which the "by"-phrase has been deleted, are actually passive or stative. The clues include intensifiers, the verb "seems," contrasts, present tense, past tense, progressive aspect, and confirmation by examples. (CB)

Cook, Walter A.

1990-01-01

346

Video Production For Short Educational Videos  

E-print Network

Video Production Handbook For Short Educational Videos Jennifer Cook Small Acreage Management page 6 Introduction page 3 Prepare for Video Shoot page 8 Video Shoot page 9 Editing Page 11 Draft Review page 12 Final Video page 13 Table of Contents Video Production Process #12;3 Equipment

347

Textbook Error: Short Circuiting on Electrochemical Cell  

ERIC Educational Resources Information Center

Short circuiting an electrochemical cell is an unreported but persistent error in the electrochemistry textbooks. It is suggested that diagrams depicting a cell delivering usable current to a load be postponed, the theory of open-circuit galvanic cells is explained, the voltages from the tables of standard reduction potentials is calculated and…

Bonicamp, Judith M.; Clark, Roy W.

2007-01-01

348

Why Do Emerging Economies Borrow Short Term?  

Microsoft Academic Search

We argue that emerging economies borrow short term due to the high risk premium charged by bondholders on long-term debt. First, we present a model where the debt maturity structure is the outcome of a risk sharing problem between the government and bondholders. By issuing long-term debt, the government lowers the probability of a rollover crisis, transferring risk to bondholders.

Fernando A. Broner; Guido Lorenzoni; Sergio L. Schmukler

2007-01-01

349

Why Do Emerging Economies Borrow Short Term?  

Microsoft Academic Search

We argue that emerging economies borrow short term due to the high risk premium charged by bondholders on long-term debt. First, we present a model where the debt maturity structure is the outcome of a risk sharing problem between the government and bondholders. By issuing long-term debt, the government lowers the probability of a rollover crisis, transferring risk to bondholders.

Fernando Broner; Guido Lorenzoni; Sergio Schmuckler

2006-01-01

350

Stop the Chase: Short Contribution Michael Meier  

E-print Network

Stop the Chase: Short Contribution Michael Meier , Michael Schmidt and Georg Lausen University of variables V . A database schema R is a finite set of relational symbols {R1, ..., Rn}. In the rest instance I is a finite set of R-atoms that contains only elements from null in

Schindelhauer, Christian

351

SHORT-RUN MONEY DEMAND Laurence Ball  

E-print Network

SHORT-RUN MONEY DEMAND Laurence Ball Johns Hopkins University August 2002 I am grateful with Goldfeld's partial adjustment model. A key innovation is the choice of the interest rate in the money on "near monies" -- close substitutes for M1 such as savings accounts and money market mutual funds

Niebur, Ernst

352

A Short History of Three Chemical Shifts  

ERIC Educational Resources Information Center

A short history of chemical shifts in nuclear magnetic resonance (NMR), electron spectroscopy for chemical analysis (ESCA) and Mossbauer spectroscopy, which are useful for chemical studies, is described. The term chemical shift is shown to have originated in the mistaken assumption that nuclei of a given element would all undergo resonance at the…

Nagaoka, Shin-ichi

2007-01-01

353

Teaching Hemingway's "The Short Happy Life."  

ERIC Educational Resources Information Center

Considers many ways to teach Hemingway's "The Short Happy Life of Francis Macomber." Explores the ironic implications of Macomber's experience and compares it with the experience of Sammy in another initiation story, John Updike's "A&P." Describes how he leads the discussion about this story, and ends the discussion by reviewing what the students…

Stacy, Gerald

2000-01-01

354

Injection heterolaser with a short resonator  

Microsoft Academic Search

A description is given of the construction of an injection heterojunction laser with a short resonator. The results are reported of an experimental investigation of spatial and spectral characteristics of the output radiation of lasers with resonators 30-100 ? long. It is reported that the method of planar technology can be used to fabricate lasers operating nearly in the single-frequency

Yu L Bessonov; V. I. Borodulin; N. A. Vagner; M. V. Zverkov; V. P. Konyaev; V. N. Morozov; S. A. Pashko; A. S. Semenov; A. B. Sergeev; O. A. Utkina

1979-01-01

355

Short communication Immunophysiology of the mammary gland  

E-print Network

Short communication Immunophysiology of the mammary gland and transmission of immunity to the young of immunity by the mammary gland from the mother to her offspring is related to the rate of transmission are present in the mammary gland at delivery and during lactation [4, 5]. In the mouse, it has been shown

Paris-Sud XI, Université de

356

Fisheries Research 86 (2007) 285288 Short communication  

E-print Network

Fisheries Research 86 (2007) 285­288 Short communication A comparison of the effect of three common. Philip Smith University Marine Biological Station Millport, Isle of Cumbrae, KA28 0EG, Scotland, United). However, little is known about the biology of M. rugosa, including fundamental life history parameters

Claverie, Thomas

357

SHORT COMMUNICATION Presence of Aspergillus sydowii, a  

E-print Network

SHORT COMMUNICATION Presence of Aspergillus sydowii, a pathogen of gorgonian sea fans in the marine Pawlik5 and Oded Yarden3 1 Department of Zoology, George S Wise Faculty of Life Sciences, Tel Aviv; 4 Department of Biology, University of South Carolina-Aiken, Aiken, SC, USA and 5 Center for Marine

Pawlik, Joseph

358

Fisheries Research 78 (2006) 3943 Short survey  

E-print Network

,b). Analysis of fishery data collected between 1980 and 1990 indicated that L. forbesi was widely distributed spawning grounds have not yet been docu- mented, analysis of spatial patterns in fishery data suggestsFisheries Research 78 (2006) 39­43 Short survey The Moray Firth directed squid fishery I

Pierce, Graham

359

GSFC short pulse radar, JONSWAP-75  

NASA Technical Reports Server (NTRS)

In September 1975, the Goddard Space Flight Center operated a short pulse radar during ocean wave measuring experiments off the coast of West Germany in the North Sea. The experiment was part of JONSWAP-75. The radar system and operations during the experiment are described along with examples of data.

Levine, D. M.; Walton, W. T.; Eckerman, J.; Kutz, R. L.; Dombrowski, M.; Kalshoven, J. E., Jr.

1977-01-01

360

Nonperturbative short-range dynamics in TMDs  

SciTech Connect

This presentation covers: deep inelastic processes and transverse momentum distributions; chiral symmetry breaking, including the physical picture, the dynamical model, and parton distributions; partonic structures, including transverse momentum distributions, coordinate space correlator, and short range correlations; and measurements of semi-inclusive deep inelastic scattering, correlations, and multi-parton processes in pp interactions.

Weiss, Christian [JLAB

2013-05-01

361

Surgical options for short bowel syndrome  

Microsoft Academic Search

Most children with short bowel syndrome experience spontaneous small bowel adaptation over time. This allows the majority to be weaned from parenteral nutrition. There are, however, some children who cannot be weaned and are potential candidates for techniques to promote intestinal adaptation and intestinal lengthening. Here, surgical therapeutic options are described, literature reviewed, and reported results evaluated. Surgical procedures for

Ashley H. Vernon; Keith E. Georgeson

2001-01-01

362

Transverse Effect due to Short-range Resistive Wall Wakefield  

SciTech Connect

For accelerator designs with ultra short electron beams, beam dynamics study has to invoke the short-range wakefields. In this paper, we first obtain the short-range dipole mode resistive wall wakefield. Analytical approach is then developed to study the single bunch transverse beam dynamics due to this short-range resistive wall wake. The results are applied to the LCLS undulator.

Juhao Wu; Alex Chao; Jean Delayen

2007-06-18

363

Filtering Short Message Spam of Group Sending Using CAPTCHA  

Microsoft Academic Search

Short message spam brings so much trouble to the users, and the volume of short message spam becomes more and more large, especially the function of group sending is used in short message. This paper proposes a method to filter short message spam of group sending, in other words, it utilizes CAPTCHA (completely automated public Turing test to tell computers

Peizhou He; Yong Sun; Wei Zheng; Xiangming Wen

2008-01-01

364

Expanding the SHOC2 Mutation Associated Phenotype of Noonan Syndrome with Loose Anagen Hair: Structural Brain Anomalies and Myelofibrosis  

PubMed Central

Noonan syndrome is a heterogenous rasopathy typically presenting with short stature, characteristic facial features, cardiac abnormalities including pulmonic valve stenosis, ASD and hypertrophic cardiomyopathy (HCM), cryptorchidism, ectodermal abnormalities and learning differences. The phenotype is variable, and limited genotype phenotype correlation exists with SOS1 mutations often associated with normal cognition and stature, RAF1 mutations entailing a high HCM risk, and certain PTPN11 mutations predisposing to juvenile myelomonocytic leukemia. The recently identified SHOC2 mutation (p.Ser2Gly) causes Noonan syndrome with loose anagen hair. We report five patients with this mutation. All had skin hyperpigmentation, sparse light colored hair, increased fine wrinkles, ligamentous laxity, developmental delay and 4/4 had a structural cardiac anomaly. Hypotonia and macrocephaly occurred in 4/5 (80%); 3/5 (60%) had polyhydramnios, increased birth weight or required use of a feeding tube. Distinctive brain abnormalities included relative megalencephaly and enlarged subarachnoid spaces suggestive of benign external hydrocephalus, and a relatively small posterior fossa as indicated by a vertical tentorium. The combination of a large brain with a small posterior fossa likely resulted in the high rate of cerebellar tonsillar ectopia (3/4) (75%). Periventricular nodular heterotopia was seen in one patient with a thick and dysplastic corpus callosum. We report on the first hematologic neoplasm, myelofibrosis, in a 2-year-old patient with SHOC2 mutation. Myelofibrosis is exceedingly rare in children and young adults. The absence of a somatic JAK2 mutation, seen in the majority of patients with myelofibrosis, is noteworthy as it suggests that germline or somatic SHOC2 mutations are causally involved in myelofibrosis. PMID:23918763

Gripp, Karen W.; Zand, Dina J.; Demmer, Laurie; Anderson, Carol E.; Dobyns, William B.; Zackai, Elaine H.; Denenberg, Elizabeth; Jenny, Kim; Stabley, Deborah L.; Sol-Church, Katia

2013-01-01

365

Reduced Short-Term Memory in Aphasia 1 Running head: REDUCED SHORT-TERM MEMORY IN APHASIA  

E-print Network

Reduced Short-Term Memory in Aphasia 1 Running head: REDUCED SHORT-TERM MEMORY IN APHASIA Reduced Short-Term Memory Span in Aphasia and Susceptibility to Interference: Contribution of Material in Aphasia 2 Abstract Semantic short-term memory (STM) deficits have been traditionally defined

Thompson-Schill, Sharon

366

Early recognition of growth abnormalities permitting early intervention  

PubMed Central

Normal growth is a sign of good health. Monitoring for growth disturbances is fundamental to children's health care. Early detection and diagnosis of the causes of short stature allows management of underlying medical conditions, optimizing attainment of good health and normal adult height. Conclusion This review summarizes currently available information on monitoring for short stature in children and conditions usually associated with short stature and summarizes the authors’ conclusions on the early recognition of growth disorders. PMID:23586744

Haymond, Morey; Kappelgaard, Anne-Marie; Czernichow, Paul; Biller, Beverly MK; Takano, Koji; Kiess, Wieland

2013-01-01

367

Lipid nanoparticles for short interfering RNA delivery.  

PubMed

The discovery of RNA interference (RNAi) in mammalian cells has created a new class of therapeutics based on the reversible silencing of specific disease-causing genes. This therapeutic potential depends on the ability to deliver inducers of RNAi, such as short-interfering RNA (siRNA) and micro-RNA (miRNA), to cells of target tissues. This chapter reviews various challenges and delivery strategies for siRNA, with a particular focus on the development of lipid nanoparticle (LNP) delivery technologies. Currently, LNP delivery systems are the most advanced technology for systemic delivery of siRNA, with numerous formulations under various stages of clinical trials. We also discuss methods to improve gene silencing potency of LNP-siRNA, as well as application of LNP technologies beyond siRNA to the encapsulation of other nucleic acids such as mRNA and clustered regularly interspaced short palindromic repeats (CRISPR). PMID:25409604

Leung, Alex K K; Tam, Yuen Yi C; Cullis, Pieter R

2014-01-01

368

Ultimately short ballistic vertical graphene Josephson junctions  

PubMed Central

Much efforts have been made for the realization of hybrid Josephson junctions incorporating various materials for the fundamental studies of exotic physical phenomena as well as the applications to superconducting quantum devices. Nonetheless, the efforts have been hindered by the diffusive nature of the conducting channels and interfaces. To overcome the obstacles, we vertically sandwiched a cleaved graphene monoatomic layer as the normal-conducting spacer between superconducting electrodes. The atomically thin single-crystalline graphene layer serves as an ultimately short conducting channel, with highly transparent interfaces with superconductors. In particular, we show the strong Josephson coupling reaching the theoretical limit, the convex-shaped temperature dependence of the Josephson critical current and the exceptionally skewed phase dependence of the Josephson current; all demonstrate the bona fide short and ballistic Josephson nature. This vertical stacking scheme for extremely thin transparent spacers would open a new pathway for exploring the exotic coherence phenomena occurring on an atomic scale. PMID:25635386

Lee, Gil-Ho; Kim, Sol; Jhi, Seung-Hoon; Lee, Hu-Jong

2015-01-01

369

Skylab short-lived event alert program  

NASA Technical Reports Server (NTRS)

During the three manned Skylab missions, the Center for Short-Lived Phenomena (CSLP) reported a total of 39 significant events to the Johnson Space Center (JSC) as part of the Skylab Short-Lived Event Alert Program. The telegraphed daily status reports included the names and locations of the events, the track number and revolution number during which the event could be observed, the time (GMT) to within plus or minus 2 sec when Skylab was closest to the event area, and the light condition (daylight or darkness) at that time and place. The messages sent to JSC during the Skylab 4 mission also included information pertaining to ground-truth studies and observations being conducted on the events. Photographic priorities were assigned for each event.

Citron, R. A.

1974-01-01

370

Transient nanobubbles in short-time electrolysis  

E-print Network

Water electrolysis in a microsystem is observed and analyzed on a short-time scale ~10 us. Very unusual properties of the process are stressed. An extremely high current density is observed because the process is not limited by the diffusion of electroactive species. The high current is accompanied by a high relative supersaturation S>1000 that results in homogeneous nucleation of bubbles. On the short-time scale only nanobubbles can be formed. These nanobubbles densely cover the electrodes and aggregate at a later time to microbubbles. The effect is significantly intensified with a small increase of temperature. Application of alternating polarity voltage pulses produces bubbles containing a mixture of hydrogen and oxygen. Spontaneous reaction between gases is observed for stoichiometric bubbles with the size smallaer than 150 nm. Such bubbles disintegrate violently affecting the surface of electrodes.

Vitaly B. Svetovoy; Remco G. P. Sanders; Miko C. Elwenspoek

2013-01-12

371

Transient nanobubbles in short-time electrolysis  

NASA Astrophysics Data System (ADS)

Water electrolysis in a microsystem is observed and analyzed on a short-time scale of ?10 ?s. The very unusual properties of the process are stressed. An extremely high current density is observed because the process is not limited by the diffusion of electroactive species. The high current is accompanied by a high relative supersaturation, S > 1000, that results in homogeneous nucleation of bubbles. On the short-time scale only nanobubbles can be formed. These nanobubbles densely cover the electrodes and aggregate at a later time to microbubbles. The effect is significantly intensified with a small increase of temperature. Application of alternating polarity voltage pulses produces bubbles containing a mixture of hydrogen and oxygen. Spontaneous reaction between gases is observed for stoichiometric bubbles with sizes smaller than ?150 nm. Such bubbles disintegrate violently affecting the surfaces of the electrodes.

Svetovoy, Vitaly B.; Sanders, Remco G. P.; Elwenspoek, Miko C.

2013-05-01

372

Electrical percolation in short fiber composites  

SciTech Connect

Thermoplastics containing conductive reinforcements provide as effective an EMI shielding as that provided by secondary metallization techniques, while affording mechanical strength and greater cost savings. The properties of short fiber reinforced composites are related to its structure and this structure is controlled by processing. The present study utilizes experimentally measured microstructure of injection molded short carbon fiber/Nylon 6, 6 composites to model the electrical percolation behavior. The experimentally measured fiber length distributions and fiber orientation distributions are incorporated into the continuum space simulations based on a concentric cylindrical model. Finite size scaling is applied to investigate the thresholds in infinitely large systems. The microstructure is also considered as a growing fractal. The simulations provide cluster number and cluster size for the fractal growth. The fractal dimension and percolation exponents are determined for large clusters near percolation.

Dani, A.A.; Ogale, A.A. [Clemson Univ., SC (United States)

1994-12-31

373

CAA of Short Non-MCQ Answers  

Microsoft Academic Search

This paper presents a new approach for the computer-assisted assessment (CAA) of non- multiple choice questions (Non-MCQ) type and short answers given by students. The technique is developed for the assessment of text contents of free text answers to questions of factual disciplines. The Automated Text Marker (ATM) prototype automatically breaks down an expertly written model answer, to a closed-ended

David Callear; Jenny Jerrams-Smith; Victor Soh

2001-01-01

374

Film Music: A Very Short Introduction  

Microsoft Academic Search

Film music is as old as cinema itself. Years before synchronized sound became the norm, projected moving images were shown to musical accompaniment, whether performed by a lone piano player or a hundred-piece orchestra. Today film music has become its own industry, indispensable to the marketability of movies around the world.\\u000aFilm Music: A Very Short Introduction is a compact,

Kathryn M Kalinak

2010-01-01

375

Science Shorts: Nothing But Blue Skies  

NSDL National Science Digital Library

Why is the sky blue? Why are sunsets orange and red? These are some of children's favorite questions to ask, but answering them at a level appropriate for primary students' level of understanding can be tricky, even for veteran teachers. In order to understand why the sky is blue and other related questions, we need to know a bit about the makeup of Earth's atmosphere and the effects of light. This month's Science Shorts can help.

Adams, Barbara

2006-12-01

376

Deformable mirror for short wavelength applications  

DOEpatents

A deformable mirror compatible with short wavelength (extreme ultraviolet) radiation that can be precisely controlled to nanometer and subnanometer accuracy is described. Actuators are coupled between a reaction plate and a face plate which has a reflective coating. A control system adjusts the voltage supplied to the actuators; by coordinating the voltages supplied to the actuators, the reflective surface of the mirror can be deformed to correct for dimensional errors in the mirror or to produce a desired contour.

Chapman, Henry N. (2417 Kilkare Rd., Sunol, CA 94586); Sweeney, Donald W. (5020 Canyon Crest Dr., San Ramon, CA 94583)

1999-01-01

377

Phase Modulation Device Using Amorphous Short Wire  

Microsoft Academic Search

A new phase-modulation device with simple structure and high reliability was constructed using a short amorphous wire. A high-frequency ac current (carrier) and a signal current are simultaneously passed through the wire, which undergoes the large Barkhausen effect when the circumferential flux changes. Highly linear modulation characteristics were obtained up to 0.67ż using a triangular-wave ac current, passed through tension-annealed

K. Mohri; K. Bushida

1994-01-01

378

Short Notes Ontogenetic differences in the  

E-print Network

Vipera berus Gábor HerczegGábor HerczegGábor HerczegGábor HerczegGábor Herczeg1,21,21,21,21,2 , Abigél in thermoregulation) of reptiles. In European adders (Vipera berus), juveniles face higher predation risks than adults risk during a short time interval while inhabiting the same area. Juvenile European adders, Vipera beru

Merilä, Juha

379

Trading on Short-Term Information  

Microsoft Academic Search

In this paper we address the question as to why fund managers may trade on short-term information in a financial market that offers more profitable trading on long-term information. We consider a setting in which a fund manager’s ability is unknown and an investor uses performance observations to learn about this ability. We show that an investor learns less efficiently

Alexander Gumbel

1999-01-01

380

A Short Introduction to Plasma Physics  

E-print Network

This chapter contains a short discussion of some fundamental plasma phenomena. In section 2 we introduce key plasma properties like quasi-neutrality, shielding, particle transport processes and sheath formation. In section 3 we describe the simplest plasma models: collective phenomena (drifts) deduced from single-particle trajectories and fundamentals of plasma fluid dynamics. The last section discusses wave phenomena in homogeneous, unbounded, cold plasma.

Wiesemann, K

2013-01-01

381

SSC 40 mm short model construction experience  

SciTech Connect

Several short model SSC magnets have been built and tested at Fermilab. They establish a preliminary step toward the construction of SSC long models. Many aspects of magnet design and construction are involved. Experience includes coil winding, curing and measuring, coil end part design and fabrication, ground insulation, instrumentation, collaring and yoke assembly. Fabrication techniques are explained. Design of tooling and magnet components not previously incorporated into SSC magnets are described. 14 refs., 18 figs., 2 tabs.

Bossert, R.C.; Brandt, J.S.; Carson, J.A.; Dickey, C.E.; Gonczy, I.; Koska, W.A.; Strait, J.B.

1990-04-01

382

Short-pulse Laser Processing of CFRP  

NASA Astrophysics Data System (ADS)

Short-pulse lasers allow processing of carbon fiber reinforced plastics (CFRP) with very high quality, i.e. showing thermal damage in the range of only a few micrometers. Due to the usually high intensities and the short interaction times of such short pulses, only a small fraction of the incident laser energy is converted to residual heat which does not contribute to the ablation process. However, if the next pulse arrives before the material had time to cool down, i.e. this residual thermal energy did not sufficiently flow out of the interaction region, it encounters material which is still hot. This remaining energy and temperature is summing up during the sequence of pulses and is commonly referred to as "heat accumulation". Thermal damage in addition to the damage created by the process itself is induced, if the resulting temperature sum exceeds the damage temperatures of either the fibre or the plastic. The current paper presents the influence of the laser parameters such as pulse energy and repetition rate on this heat accumulation. An analytical model was used to describe the heat accumulation for different laser parameters. It describes the heat accumulation process and allows estimating the maximum number of pulses allowed at the same place before a detrimental temperature increase occurs.

Weber, Rudolf; Freitag, Christian; Kononenko, Taras V.; Hafner, Margit; Onuseit, Volkher; Berger, Peter; Graf, Thomas

383

Microbial production of short-chain alkanes.  

PubMed

Increasing concerns about limited fossil fuels and global environmental problems have focused attention on the need to develop sustainable biofuels from renewable resources. Although microbial production of diesel has been reported, production of another much in demand transport fuel, petrol (gasoline), has not yet been demonstrated. Here we report the development of platform Escherichia coli strains that are capable of producing short-chain alkanes (SCAs; petrol), free fatty acids (FFAs), fatty esters and fatty alcohols through the fatty acyl (acyl carrier protein (ACP)) to fatty acid to fatty acyl-CoA pathway. First, the ?-oxidation pathway was blocked by deleting the fadE gene to prevent the degradation of fatty acyl-CoAs generated in vivo. To increase the formation of short-chain fatty acids suitable for subsequent conversion to SCAs in vivo, the activity of 3-oxoacyl-ACP synthase (FabH), which is inhibited by unsaturated fatty acyl-ACPs, was enhanced to promote the initiation of fatty acid biosynthesis by deleting the fadR gene; deletion of the fadR gene prevents upregulation of the fabA and fabB genes responsible for unsaturated fatty acids biosynthesis. A modified thioesterase was used to convert short-chain fatty acyl-ACPs to the corresponding FFAs, which were then converted to SCAs by the sequential reactions of E. coli fatty acyl-CoA synthetase, Clostridium acetobutylicum fatty acyl-CoA reductase and Arabidopsis thaliana fatty aldehyde decarbonylase. The final engineered strain produced up to 580.8?mg?l(-1) of SCAs consisting of nonane (327.8?mg?l(-1)), dodecane (136.5?mg?l(-1)), tridecane (64.8?mg?l(-1)), 2-methyl-dodecane (42.8?mg?l(-1)) and tetradecane (8.9?mg?l(-1)), together with small amounts of other hydrocarbons. Furthermore, this platform strain could produce short-chain FFAs using a fadD-deleted strain, and short-chain fatty esters by introducing the Acinetobacter sp. ADP1 wax ester synthase (atfA) and the E. coli mutant alcohol dehydrogenase (adhE(mut)). PMID:24077097

Choi, Yong Jun; Lee, Sang Yup

2013-10-24

384

Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).  

PubMed

We describe seven patients with KDM6A (located on Xp11.3 and encodes UTX) mutations, a rare cause of Kabuki syndrome (KS2, MIM 300867) and report, for the first time, germ-line missense and splice-site mutations in the gene. We demonstrate that less than 5% cases of Kabuki syndrome are due to KDM6A mutations. Our work shows that similar to the commoner Type 1 Kabuki syndrome (KS1, MIM 147920) caused by KMT2D (previously called MLL2) mutations, KS2 patients are characterized by hypotonia and feeding difficulties during infancy and poor postnatal growth and short stature. Unlike KS1, developmental delay and learning disability are generally moderate-severe in boys but mild-moderate in girls with KS2. Some girls may have a normal developmental profile. Speech and cognition tend to be more severely affected than motor development. Increased susceptibility to infections, join laxity, heart, dental and ophthalmological anomalies are common. Hypoglycaemia is more common in KS2 than in KS1. Facial dysmorphism with KDM6A mutations is variable and diagnosis on facial gestalt alone may be difficult in some patients. Hypertrichosis, long halluces and large central incisors may be useful clues to an underlying KDM6A mutation in some patients. PMID:24527667

Banka, S; Lederer, D; Benoit, V; Jenkins, E; Howard, E; Bunstone, S; Kerr, B; McKee, S; Lloyd, I C; Shears, D; Stewart, H; White, S M; Savarirayan, R; Mancini, G M S; Beysen, D; Cohn, R D; Grisart, B; Maystadt, I; Donnai, D

2014-02-14

385

Mental retardation, premature balding, small genitalia, small acra and small patellae in brothers: confirmation of an entity.  

PubMed

We describe two brothers with moderate to severe mental retardation, short stature, an unusual skull shape, early anterior balding, unusual facial morphology, hypogonadotrophic hypogonadism, small genitalia, and small patellae. The older sib had generalized hypotonia without focal neurological abnormalities or myotonia. His brother had epileptic fits in infancy and tonic-clonic seizures from 5 years on, and died at 8 years of age during a seizure with possibly an intra-cerebral haemorrhage. Both brothers had a very similar face characterized by a high anterior hair line, small and upslanting palpebral fissures, deeply set eyes, a broad nasal tip, and everted lower lip. Additional studies in the older sib included a CGH array, and molecular testing of PQBP1 and FRAXA, all with normal results. Investigations of maternal lymphocytes showed completely skewed X-inactivation. The phenotype in the sibs resembles the phenotype reported in three unrelated patients reported by Scholte et al. in 1991 (MIM %181515) and Fryns et al. in 1993, and confirms this to be a clinically distinct entity. As all reported cases have been males, including two brothers, none of the parents were consanguineous, cytogenetic studies failed to show abnormalities, and X-inactivation was completely skewed in one of the mothers, we suggest this entity to follow an X-linked recessive pattern of inheritance. PMID:20624501

Vandersteen, Anthony M; Hennekam, Raoul C

2010-01-01

386

Endocrine problems in children with Prader-Willi syndrome: special review on associated genetic aspects and early growth hormone treatment.  

PubMed

Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder characterized by hypothalamic-pituitary dysfunction. The main clinical features include neonatal hypotonia, distinctive facial features, overall developmental delay, and poor growth in infancy, followed by overeating with severe obesity, short stature, and hypogonadism later in development. This paper reviews recent updates regarding the genetic aspects of this disorder. Three mechanisms (paternal deletion, maternal disomy, and deficient imprinting) are recognized. Maternal disomy can arise because of 4 possible mechanisms: trisomy rescue (TR), gamete complementation (GC), monosomy rescue (MR), and postfertilization mitotic nondisjunction (Mit). Recently, TR/GC caused by nondisjunction at maternal meiosis 1 has been identified increasingly, as a result of advanced maternal childbearing age in Korea. We verified that the d3 allele increases the responsiveness of the growth hormone (GH) receptor to endogenous GH. This paper also provides an overview of endocrine dysfunctions in children with PWS, including GH deficiency, obesity, sexual development, hypothyroidism, and adrenal insufficiency, as well as the effects of GH treatment. GH treatment coupled with a strictly controlled diet during early childhood may help to reduce obesity, improve neurodevelopment, and increase muscle mass. A more active approach to correct these hormone deficiencies would benefit patients with PWS. PMID:22844316

Jin, Dong-Kyu

2012-07-01

387

Gastrointestinal Manifestations in Diploid/Triploid Mixoploidy.  

PubMed

A female infant was delivered by cesarean section at 32 weeks of gestation due to growth arrest and poor movement patterns. The infant had feeding problems which were based on gastroesophageal reflux, laryngomalacia, and decreased gut motility. Hypotonia was notable from the outset and she eventually displayed significant delays in both motor and cognitive milestones. Meanwhile, lymphocytes had yielded a normal karyotype (46,XX) but at two years of age she underwent a skin biopsy and mosaicism for a 68,XX cell line was discovered in fibroblasts. At six years and four months of age, the patient is very short of stature below the 3rd percentile but has a weight at the 42th percentile and head circumference above the 97th percentile. Other phenotypic features include: low set ears, piebald irides and scalp hair, eyelid ptosis, strabismus, broad nasal bridge, anteverted nares, upswept eyebrows, hypoplastic teeth, pectusexcavatum, hypoplastic labia, scoliosis, 3-4 finger syndactyly, 2-3 toe syndactyly. We present this case with a review of the literature for mixoploidy (the rare event of mosaicism for diploid and triploid cell lines). We add to the existing data on the clinical features of diploid/triploid mixoploidy. The complexities of the gastrointestinal problems make this case unusual. PMID:25373857

Lalani, Farida Khurram; Elsner, Garrett Leonard; Lebel, Robert Roger; Beg, Mirza B

2014-11-01

388

Prader-Willi syndrome: current understanding of cause and diagnosis.  

PubMed

Prader-Willi syndrome (PWS) is characterized by hypotonia, obesity, hypogonadism, short stature, small hands and feet, mental deficiency, a characteristic face, and an interstitial deletion of the proximal long arm of chromosome 15 in about one-half of the patients. The incidence is estimated to be about 1 in 25,000, and PWS is the most common syndromal cause of human obesity. DNA abnormalities, usually deletions or duplications of chromosome 15, have been identified in individuals with PWS with or without recognizable chromosome 15 deletions. Paternal origin of the chromosome 15 deletion by cytogenetic and DNA studies has been found in nearly all PWS individuals studied. No cytogenetic evidence for chromosome breakage has been identified, although an environmental cause (e.g., paternal hydrocarbon-exposed occupations) of the chromosome 15 abnormality has been proposed. PWS patients with the chromosome 15 deletion are more prone to hypopigmentation compared with PWS individuals with normal chromosomes, but no other clinical differences are consistently identified between those with and without the chromosome deletion. Anthropometric, dermatoglyphic, and other clinical findings indicate homogeneity of PWS patients with the chromosome deletion and heterogeneity of the nondeletion patients. A review of our current understanding of the major clinical, cytogenetic, and DNA findings is presented, and clinical manifestations and cytogenetic abnormalities are summarized from the literature. PMID:2309779

Butler, M G

1990-03-01

389

Abnormal brain magnetic resonance imaging in two patients with Smith-Magenis syndrome.  

PubMed

Smith-Magenis syndrome (SMS) is a clinically recognizable contiguous gene syndrome ascribed to an interstitial deletion in chromosome 17p11.2. Seventy percent of SMS patients have a common deletion interval spanning 3.5 megabases (Mb). Clinical features of SMS include characteristic mild dysmorphic features, ocular anomalies, short stature, brachydactyly, and hypotonia. SMS patients have a unique neurobehavioral phenotype that includes intellectual disability, self-injurious behavior and severe sleep disturbance. Little has been reported in the medical literature about anatomical brain anomalies in patients with SMS. Here we describe two patients with SMS caused by the common deletion in 17p11.2 diagnosed using chromosomal microarray (CMA). Both patients had a typical clinical presentation and abnormal brain magnetic resonance imaging (MRI) findings. One patient had subependymal periventricular gray matter heterotopia, and the second had a thin corpus callosum, a thin brain stem and hypoplasia of the cerebellar vermis. This report discusses the possible abnormal MRI images in SMS and reviews the literature on brain malformations in SMS. Finally, although structural brain malformations in SMS patients are not a common feature, we suggest baseline routine brain imaging in patients with SMS in particular, and in patients with chromosomal microdeletion/microduplication syndromes in general. Structural brain malformations in these patients may affect the decision-making process regarding their management. PMID:24788350

Maya, Idit; Vinkler, Chana; Konen, Osnat; Kornreich, Liora; Steinberg, Tamar; Yeshaya, Josepha; Latarowski, Victoria; Shohat, Mordechai; Lev, Dorit; Baris, Hagit N

2014-08-01

390

Use of Both the Short Musculoskeletal Function Assessment Questionnaire and the Short Form-36 among Tibial Fracture Patients was Redundant  

PubMed Central

Objective To compare the Short Musculoskeletal Function Assessment Dysfunction Index and the Short Form-36 Physical Component Summary scores among patients undergoing operative management of tibial fractures. Study Design and Setting Between July 2000 and September 2005, we enrolled 1319 skeletally mature patients with open or closed fractures of the tibial shaft that were managed with intramedullary nailing. Patients were asked to complete the Short Musculoskeletal Function Assessment and Short Form-36 at discharge and 3, 6, and 12 months post surgical fixation. Results Short Musculoskeletal Function Assessment Dysfunction Index and Short Form-36 Physical Component Summary scores were highly correlated at 3, 6, and 12 months post surgical fixation. The difference in mean standardized change scores for the Short Musculoskeletal Function Assessment Dysfunction Index and the Short Form-36 Physical Component Summary, from 3 to 12 months post-surgical fixation, was not statistically significant. Both the Short Musculoskeletal Function Assessment Dysfunction Index and Short Form-36 Physical Component Summary scores were able to discriminate between healed and non-healed tibial fractures at 3, 6, and 12 months post surgery. Conclusion In patients with tibial shaft fractures, the Short Musculoskeletal Function Assessment Dysfunction Index offered no important advantages over the Short Form-36 Physical Component Summary score. These results, along with the usefulness of the Short Form-36 for comparing populations, recommends the Short Form-36 for assessing physical function in studies of patients with tibial fractures. PMID:19364637

2009-01-01

391

Technical Note: Revised Fully Stature Estimation Michelle H. Raxter,1  

E-print Network

. Ruff,2 and Benjamin M. Auerbach2 1 Department of Anthropology, University of South Florida, Tampa, FL ages may be difficult to estimate in many archaeological and forensic cases, we also devised, 30­39.9 as 35 years, and 40­49.9 as 45 years. This simulates more typical archaeological or forensic

Auerbach, Benjamin M.

392

Online Short Course: Energy, Summer 2009  

NSDL National Science Digital Library

Confounded by kinetic and potential energy? Intimidated by thermal energy and heat? Mystified by the concepts of conduction, convection, and radiation? You are not alone. The NSTA Online Short Course: Energy is the perfect course for science teachers interested in learning more about the topic or for those who would like a refresher course. As a participant you will meet five times online with an Instructor and work on your own time as well to complete a Final Assessment demonstrating your science content proficiency of Energy. Educators are encouraged to seek approval in advance from their district for continuing education credits that may be ascribed for passing the final assessment. The NSTA Online Short Course: Energy covers the concepts of kinetic energy, potential energy, energy transformations, heat, temperature, and their applications. The online course is based on the NSTA Press publication Energy: Stop Faking It! Finally Understanding Science So You Can Teach It written by Dr. William Robertson. Participants of the course meet online with the presenters on Monday June 15, 2009 and continue through the next four consecutive Wednesdays, ending on July 8, 2009. The time of the course is 8:00p.m - 9:30p.m., Eastern time. The presenters will guide participants through easy-to-understand explanations and facilitate discussions that will enhance their knowledge of common physical science concepts. In addition, participants contribute to asynchronous weekly discussions, and complete suggested reading assignments from the Energy e-book, journal articles, and/or NSTA's Energy SciPack and SciGuide. Participants should plan to spend between 25-35 hours on this online course including the time spent attending the five live Web sessions. This Online Short Course is designed for educators of grades 3-9.

1900-01-01

393

Online Short Course: Energy, Fall 2008  

NSDL National Science Digital Library

Confounded by kinetic and potential energy? Intimidated by thermal energy and heat? Mystified by the concepts of conduction, convection, and radiation? You are not alone. The NSTA Online Short Course: Energy is the perfect course for science teachers interested in learning more about the topic or for those who would like a refresher course. As a participant, you will meet five times online with an Instructor and work on your own time as well to complete a Final Assessment demonstrating your science content proficiency of Energy. Educators are encouraged to seek approval in advance from their district for continuing education credits that may be ascribed for passing the final assessment. The NSTA Online Short Course: Energy covers the concepts of kinetic energy, potential energy, energy transformations, heat, temperature, and their applications. The online course is based on the NSTA Press publication Energy: Stop Faking It! Finally Understanding Science So You Can Teach It , written by Dr. William Robertson. Participants of the course meet online with the presenters on five Tuesdays, from 8:00 p.m. - 9:30 p.m. ET, on the following dates: September 30 and October 7, 14, 21, and 28, 2008. The presenters will guide participants through easy-to-understand explanations and facilitate discussions that will enhance their knowledge of common physical science concepts. In addition, participants contribute to asynchronous weekly discussions, and complete suggested reading assignments from the Energy e-book, journal articles, and/or NSTA's Energy SciPack and SciGuide. Participants should plan to spend between 25-35 hours on this online course including the time spent attending the five live Web sessions. This Online Short Course is designed for educators of grades 3-9.

1900-01-01

394

Online Short Course: Energy, Winter 2008  

NSDL National Science Digital Library

Confounded by kinetic and potential energy? Intimidated by thermal energy and heat? Mystified by the concepts of conduction, convection, and radiation? You are not alone. The NSTA Online Short Course: Energy is the perfect course for science teachers interested in learning more about the topic or for those who would like a refresher course. As a participant you will meet five times online with an Instructor and work on your own time as well to complete a Final Assessment demonstrating your science content proficiency of Energy. Educators are encouraged to seek approval in advance from their district for continuing education credits that may be ascribed for passing the final assessment. The NSTA Online Short Course: Energy covers the concepts of kinetic energy, potential energy, energy transformations, heat, temperature, and their applications. The online course is based on the NSTA Press publication Energy: Stop Faking It! Finally Understanding Science So You Can Teach It written by Dr. William Robertson. Participants of the course meet online with the presenters on five Tuesdays, from 8:00 p.m. - 9:30 p.m. ET, on the following dates: February 5, 12, 19, 26, and March 4, 2008. The presenters will guide participants through easy-to-understand explanations and facilitate discussions that will enhance their knowledge of common physical science concepts. In addition, participants contribute to asynchronous weekly discussions, and complete suggested reading assignments from the Energy e-book, journal articles, and/or NSTA's Energy SciPack and SciGuide. Participants should plan to spend between 25-35 hours on this online course including the time spent attending the five live Web sessions. This Online Short Course is designed for educators of grades 3-9.

1900-01-01

395

Short-cavity squeezing in barium  

NASA Technical Reports Server (NTRS)

Broadband phase sensitive noise and squeezing were experimentally observed in a system of barium atoms interacting with a single mode of a short optical cavity. Squeezing of 13 +/- 3 percent was observed. A maximum possible squeezing of 45 +/- 8 percent could be inferred for out experimental conditions, after correction for measured loss factors. Noise reductions below the quantum limit were found over a range of detection frequencies 60-170 MHz and were best for high cavity transmission and large optical depths. The amount of squeezing observed is consistent with theoretical predictions from a full quantum statistical model of the system.

Hope, D. M.; Bachor, H-A.; Manson, P. J.; Mcclelland, D. E.

1992-01-01

396

Failure Prevention by Short Time Corrosion Tests  

SciTech Connect

Short time corrosion testing of perforated sheets and wire meshes fabricated from Type 304L stainless steel, Alloy 600 and C276 showed that 304L stainless steel perforated sheet should perform well as the material of construction for dissolver baskets. The baskets will be exposed to hot nitric acid solutions and are limited life components. The corrosion rates of the other alloys and of wire meshes were too high for useful extended service. Test results also indicated that corrosion of the dissolver should drop quickly during the dissolutions due to the inhibiting effects of the corrosion products produced by the dissolution processes.

MICKALONIS, JOHN

2005-05-01

397

Short wavelength ion temperature gradient turbulence  

SciTech Connect

The ion temperature gradient (ITG) mode in the high wavenumber regime (k{sub y}{rho}{sub s}>1), referred to as short wavelength ion temperature gradient mode (SWITG) is studied using the nonlinear gyrokinetic electromagnetic code GENE. It is shown that, although the SWITG mode may be linearly more unstable than the standard long wavelength (k{sub y}{rho}{sub s}<1) ITG mode, nonlinearly its contribution to the total thermal ion heat transport is found to be low. We interpret this as resulting from an increased zonal flow shearing effect on the SWITG mode suppression.

Chowdhury, J.; Ganesh, R. [Institute for Plasma Research, Bhat, Gandhinagar (India); Brunner, S.; Lapillonne, X.; Villard, L. [CRPP, Association EURATOM-Confederation Suisse, EPFL, 1015 Lausanne (Switzerland); Jenko, F. [Max-Planck-Institut fuer Plasmaphysik Boltzmannstr. 2, D-85748 Garching (Germany)

2012-10-15

398

Neutron scattering and extra short range interactions  

E-print Network

The available data on neutron scattering were analyzed to constrain a hypothetical new short-range interaction. We show that these constraints are several orders of magnitude better than those usually cited in the range between 1 pm and 5 nm. This distance range occupies an intermediate space between collider searches for strongly coupled heavy bosons and searches for new weak macroscopic forces. We emphasise the reliability of the neutron constraints in so far as they provide several independent strategies. We have identified the most promising way to improve them.

V. V. Nesvizhevsky; G. Pignol; K. V. Protasov

2007-11-14

399

Thomson scattering in short pulse laser experiments  

SciTech Connect

Thomson scattering is well used as a diagnostic in many areas of high energy density physics. In this paper, we quantitatively demonstrate the practicality of using Thomson scattering as a diagnostic of short-pulse laser-plasma experiments in the regime, where the plasmas probed are at solid density and have temperatures of many hundreds of eV using a backlighter produced with an optical laser. This method allows a diagnosis both spatially and temporally of the density and temperature distributions in high energy density laser-plasma interactions which is independent from, and would act as a useful complement to, the existing spectroscopic methods.

Hill, E. G.; Rose, S. J. [Plasma Physics Group, The Blackett Laboratory, Imperial College London, Prince Consort Road, London SW7 2AZ (United Kingdom)

2012-08-15

400

Short submillimeter operation of the Planar Orotron  

NASA Astrophysics Data System (ADS)

Recent experimental results demonstrating Planar Orotron operation in the short submillimeter wavelength regime of 1 mm to 400 ?m are presented. This device belongs to the class of Smith-Purcell free electron lasers that utilize periodic metal grating structures to support electromagnetic waves with phase velocities lower than the speed of light. The J· E interaction between this slow wave and a mildly relativistic electron beam (25-150 keV) produces coherent radiation. Supporting theory involving dispersive and tuning characteristics of specific grating geometries is discussed. Single-particle gain calculations for fundamental and higher order mode operation are presented.

Price, E. J.; Walsh, J. E.; Kimmitt, M. F.

1991-07-01

401

Longitudinal Diagnostics for Short Electron Beam Bunches  

SciTech Connect

Single-pass free electron lasers require high peak currents from ultra-short electron bunches to reach saturation and an accurate measurement of bunch length and longitudinal bunch profile is necessary to control the bunch compression process from low to high beam energy. The various state-of-the-art diagnostics methods from ps to fs time scales using coherent radiation detection, RF deflection, and other techniques are presented. The use of linear accelerators as drivers for free electron lasers (FEL) and the advent of single-pass (SASE) FELs has driven the development of a wide range of diagnostic techniques for measuring the length and longitudinal distribution of short and ultra-short electron bunches. For SASE FELs the radiation power and the length of the undulator needed to achieve saturation depend strongly on the charge density of the electron beam. In the case of X-ray FELs, this requires the accelerator to produce ultra-high brightness beams with micron size transverse normalized emittances and peak currents of several kA through several stages of magnetic bunch compression. Different longitudinal diagnostics are employed to measure the peak current and bunch profile along these stages. The measurement techniques can be distinguished into different classes. Coherent methods detect the light emitted from the beam by some coherent radiation process (spectroscopic measurement), or directly measure the Coulomb field traveling with the beam (electro-optic). Phase space manipulation techniques map the time coordinate onto a transverse dimension and then use conventional transverse beam diagnostics (transverse deflector, rf zero-phasing). Further methods measure the profile or duration of an incoherent light pulse emitted by the bunch at wavelengths much shorted than the bunch length (streak camera, fluctuation technique) or modulate the electron beam at an optical wavelength and then generate a narrow bandwidth radiation pulse with the longitudinal profile of the beam mapped onto (optical replicator). The operational needs for bunch length measurements to have fast acquisitions, to be used in feedback systems, to distinguish pulse to pulse changes and to be nondestructive or parasitically have resulted into developing many of the diagnostics into single-shot techniques and in the following the main discussion will emphasize them.

Loos, H.; /SLAC; ,

2010-06-11

402

A Variable Diameter Short Haul Civil Tiltrotor  

NASA Technical Reports Server (NTRS)

The Short-Haul-Civil-tiltrotor (SHCT) component of the NASA Aviation System Capacity Program is an effort to develop the technologies needed for a potential 40-passenger civil tiltrotor. The variable diameter tiltrotor (VDTR) is a Sikorsky concept aimed at improving tiltrotor hover and cruise performance currently limited by disk loading that is much higher in hover than conventional helicopter, and much lower in cruise than turbo-prop systems. This paper describes the technical merits of using a VDTR on a SHCT aircraft. The focus will be the rotor design.

Wang, James M.; Jones, Christopher T.; Nixon, Mark W.

1999-01-01

403

Modulation compression for short wavelength harmonic generation  

SciTech Connect

Laser modulator is used to seed free electron lasers. In this paper, we propose a scheme to compress the initial laser modulation in the longitudinal phase space by using two opposite sign bunch compressors and two opposite sign energy chirpers. This scheme could potentially reduce the initial modulation wavelength by a factor of C and increase the energy modulation amplitude by a factor of C, where C is the compression factor of the first bunch compressor. Such a compressed energy modulation can be directly used to generate short wavelength current modulation with a large bunching factor.

Qiang, J.

2010-01-11

404

Spin injection into a short DNA chain  

E-print Network

Quantun spin transport through a short DNA chain connected to ferromagnetic electrodes has been investigated by the transfer matrix method. We describe the system by a tight-binding model where the parameters are extracted from the experimental data and realistic metal energy bands. For ferromagnetic iron electrodes, the magnetoresistance of a 30-basepair Poly(G)-Poly(C) DNA is found to be lower than 10% at a bias of spin-flip mechanism, the magnetoresistance is significantly enhanced when the spin-flip coupling is weak but as the coupling becomes stronger the decreasing magnetoresistance develops an oscillatory behavior.

X. F. Wang; Tapash Chakraborty

2005-12-19

405

Short Bowel Syndrome in the Nicu  

PubMed Central

Short bowel syndrome (SBS) is the most common cause of intestinal failure in infants. In neonates and young infants, necrotizing enterocolitis, gastroschisis, intestinal atresia and intestinal malrotation/volvulus are the leading causes of SBS. Following an acute post-surgical phase, the residual gastrointestinal tract adapts with reorganization of the crypt-villus histoarchitecture and functional changes in nutrient absorption and motility. A cohesive, multidisciplinary approach can allow most neonates with SBS to transition to full enteral feeds and achieve normal growth and development. In this article, we review the clinical features, management, complications, and prognostic factors in SBS. PMID:23415263

Amin, Sachin C.; Pappas, Cleo; Iyengar, Hari

2013-01-01

406

47 CFR 73.213 - Grandfathered short-spaced stations.  

Code of Federal Regulations, 2010 CFR

... false Grandfathered short-spaced stations. 73.213 Section 73.213 Telecommunication...RADIO BROADCAST SERVICES FM Broadcast Stations § 73.213 Grandfathered short-spaced stations. (a) Stations at locations...

2010-10-01

407

The impact of short-selling in financial markets.  

E-print Network

??Doctor of Philosophy(PhD)%%%This dissertation empirically examines the impact of short-selling in financial markets. Given the increasing participation of short-sellers in financial markets, this research provides… (more)

Lecce, Steven

2011-01-01

408

Measurement of short span stress-strain curves of paper  

Microsoft Academic Search

A new method is reported for measuring the short span stress-strain curve of paper using a zero\\/short span tester with additional instrumentation to measure load and displacement during a test. The method is to subtract the zero-span displacement-load curve from the short-span displacement-load curve, so as to obtain the displacement-load curve of the free span. An analysis of the short

Warren J. Batchelor; Bo S. Westerlind

2003-01-01

409

Heterogeneity in Short Gamma-ray Bursts  

E-print Network

We analyze the Swift/BAT sample of short gamma-ray bursts, using an objective Bayesian Block procedure to extract temporal descriptors of the bursts' initial pulse complexes (IPCs). The sample comprises 12 and 41 bursts with and without extended emission (EE) components, respectively. IPCs of non-EE bursts are dominated by single pulse structures, while EE bursts tend to have two or more pulse structures. The medians of characteristic timescales - durations, pulse structure widths, and peak intervals - for EE bursts are factors of ~ 2-3 longer than for non-EE bursts. We also examine the short burst X-ray afterglows as observed by the Swift/XRT. The median flux of the initial XRT detections for EE bursts (~ 6 x 10^-10 erg/cm^2/s) is ~ 20 x brighter than for non-EE bursts, and the median X-ray afterglow duration for EE bursts (~ 60,000 s) is ~ 30 x longer than for non-EE bursts. The tendency for EE bursts toward longer prompt-emission timescales and higher initial X-ray afterglow fluxes implies larger energy in...

Norris, Jay P; Scargle, Jeffrey D

2011-01-01

410

Short hyperdynamic profiles influence primate temperature regulation  

NASA Technical Reports Server (NTRS)

Primates have been shown to be sensitive to hyperdynamic fields. That is, when exposed to + 2Gz, body temperature falls. The purpose of this study was to examine the relative sensitivity of these animals to short centrifugation profiles which mimic the gravitational envelope seen on the Space Shuttle during launch (8 minutes, 2.9 Gz max) and re-entry (19 min, 1.7 Gz max). Four loosely restrained squirrel monkeys, isolated from additional external stimuli, were exposed to these profiles. During launch simulation, the temperatures never fell markedly below control levels. However, subsequent to return to 1G, the recovery phase showed decreases in body temperature in all four animals averaging 0.4 C over the next 10 to 15 minutes. The two animals exposed to the reentry profile showed decreases in body temperature within five minutes of the onset of centrifugation. Maximum fall in body temperature was reached by the end of the centrifugation phase and averaged 0.7 C. Thus, the temperature regulation system of this primate is sensitive to short hyperdynamic field exposures.

Fuller, C. A.; Williams, B. A.

1982-01-01

411

Short-term energy outlook, January 1999  

SciTech Connect

The Energy Information Administration (EIA) prepares the Short-Term Energy Outlook (energy supply, demand, and price projections) monthly. The forecast period for this issue of the Outlook extends from January 1999 through December 2000. Data values for the fourth quarter 1998, however, are preliminary EIA estimates (for example, some monthly values for petroleum supply and disposition are derived in part from weekly data reported in EIA`s Weekly Petroleum Status Report) or are calculated from model simulations that use the latest exogenous information available (for example, electricity sales and generation are simulated by using actual weather data). The historical energy data, compiled in the January 1999 version of the Short-Term Integrated Forecasting System (STIFS) database, are mostly EIA data regularly published in the Monthly Energy Review, Petroleum Supply Monthly, and other EIA publications. Minor discrepancies between the data in these publications and the historical data in this Outlook are due to independent rounding. The STIFS model is driven principally by three sets of assumptions or inputs: estimates of key macroeconomic variables, world oil price assumptions, and assumptions about the severity of weather. Macroeconomic estimates are produced by DRI/McGraw-Hill but are adjusted by EIA to reflect EIA assumptions about the world price of crude oil, energy product prices, and other assumptions which may affect the macroeconomic outlook. By varying the assumptions, alternative cases are produced by using the STIFS model. 28 figs., 19 tabs.

NONE

1999-01-01

412

Short-term energy outlook, July 1998  

SciTech Connect

The Energy Information Administration (EIA) prepares The Short-Term Energy Outlook (energy supply, demand, and price projections) monthly for distribution on the internet at: www.eia.doe.gov/emeu/steo/pub/contents.html. In addition, printed versions of the report are available to subscribers in January, April, July and October. The forecast period for this issue of the Outlook extends from July 1998 through December 1999. Values for second quarter of 1998 data, however, are preliminary EIA estimates (for example, some monthly values for petroleum supply and disposition are derived in part from weekly data reported in EIA`s Weekly Petroleum Status Report) or are calculated from model simulations that use the latest exogenous information available (for example, electricity sales and generation are simulated by using actual weather data). The historical energy data, compiled in the July 1998 version of the Short-Term Integrated Forecasting System (STIFS) database, are mostly EIA data regularly published in the Monthly Energy Review, Petroleum Supply Monthly, and other EIA publications. Minor discrepancies between the data in these publications and the historical data in this Outlook are due to independent rounding. 28 figs., 19 tabs.

NONE

1998-07-01

413

Spectroscopy of Virginids (Short messages or abstracts)  

NASA Astrophysics Data System (ADS)

Spectroscopic observations of 10 W Vir type stars were obtained at 6-m telescope by using the Echelle spectrometers ES-PAC and Lynx. By using the method of model atmospheres the chemical composition was determined for V 351 Cep, BL Her, TX Del. Positional measurements of the lines formed in different layers were obtained for V 351 Cep, Preliminary conclusions are the following: the sample of the observed virginids is not homogeneous. The objects of solar chemical composition were discovered for which the usage of the dependence "period-luminosity" (obtained for the halo cepheids) leads to the anomalous low luminosity values. These stars are not representatives of the Il-nd type population. Few short-period virginids have secondaries seen in variability of the radial velocities. From the whole set of parameters, we may not classify these objects also as classical disk cepheids, because the light curve does not correspond to the dependence "period-phase curve" for classical cepheids. Possible explanation of the observed properties of some short period virginids is a hypothesis of their possible binarity. Or they belong to a class of "anomalous cepheids" which we propose to discuss as a result of the coalescence of the components in a close binary system.

Galazutdinov, G. A.

414

In Search of Decay in Verbal Short-Term Memory  

ERIC Educational Resources Information Center

Is forgetting in the short term due to decay with the mere passage of time, interference from other memoranda, or both? Past research on short-term memory has revealed some evidence for decay and a plethora of evidence showing that short-term memory is worsened by interference. However, none of these studies has directly contrasted decay and…

Berman, Marc G.; Jonides, John; Lewis, Richard L.

2009-01-01

415

Final Report 527 Economic Impact Analysis of Short Line Railroads  

E-print Network

Final Report 527 Economic Impact Analysis of Short Line Railroads by Jared J. Llorens, Ph.D. James's Catalog No. 4. Title and Subtitle Economic Impact Analysis of Short Line Railroads 5. Report Date October Administration 16. Abstract This research project assesses the economic role and impact of short line railroads

Stephens, Jacqueline

416

Long Wave Short Wave Interaction Induced by Stimulated Polariton Scattering  

Microsoft Academic Search

The parametric down conversion of the light wave induced by stimulated polariton scattering in polar crystals is investigated from the aspect of long wave short wave interaction. Assuming that the light wave is the superposition of short wave (near-infrared light) and long wave (terahertz wave), time-evolution equations for the long wave and the envelope of the short wave are derived

Takeya Tsurumi

2005-01-01

417

Short-term energy outlook quarterly projections. First quarter 1994  

SciTech Connect

The Energy Information Administration (EIA) prepares quarterly, short- term energy supply, demand, and price projections for publication in February, May, August, and November in the Short-Term Energy Outlook (Outlook). An annual supplement analyzes the performance of previous forecasts, compares recent cases with those of other forecasting services, and discusses current topics related to the short-term energy markets.

Not Available

1994-02-07

418

we.b: The web of short URLs Demetris Antoniades  

E-print Network

we.b: The web of short URLs Demetris Antoniades FORTH-ICS danton@ics.forth.gr Iasonas Polakis FORTH-ICS markatos@ics.forth.gr Thomas Karagiannis Microsoft Research thomkar@microsoft.com ABSTRACT Short URLs have become ubiquitous. Especially popular within social networking services, short URLs have seen

Markatos, Evangelos P.

419

Short, D.B. Ground Water Contamination by Arsenic in  

E-print Network

Short, D.B. 1 Ground Water Contamination by Arsenic in South-Western Pennsylvania Short, D, contamination, drinking, water. #12;Short, D.B. 2 INTRODUCTION Arsenic and its compounds are ubiquitous health concern. The history of the maximum contaminant level (MCL) for arsenic is highly convoluted

Short, Daniel

420

Clinical Features: Prader-Willi syndrome (PWS) [OMIM #176270] is a genetic disorder which causes hypotonia and poor feeding in  

E-print Network

, and a characteristic facial appearance consisting of a thin upper- lip, down-turned mouth, dental crowding, and almond vary in severity. Behavioral problems include temper tantrums, obsessive compulsive tendencies

Ober, Carole

421

Gait Pattern in Two Rare Genetic Conditions Characterized by Muscular Hypotonia: Ehlers-Danlos and Prader-Willi Syndrome  

ERIC Educational Resources Information Center

This study aimed to quantify and compare the gait pattern in Ehlers-Danlos (EDS) and Prader-Willi syndrome (PWS) patients to provide data for developing evidence-based rehabilitation strategies. Twenty EDS and 19 PWS adult patients were evaluated with an optoelectronic system and force platforms for measuring kinematic and kinetic parameters…

Cimolin, Veronica; Galli, Manuela; Vismara, Luca; Grugni, Graziano; Camerota, Filippo; Celletti, Claudia; Albertini, Giorgio; Rigoldi, Chiara; Capodaglio, Paolo

2011-01-01

422

The Department Of Film andThe Department Of Film and The UNLV Short Film ArchiveThe UNLV Short Film Archive present thepresent the  

E-print Network

The Department Of Film andThe Department Of Film and The UNLV Short Film ArchiveThe UNLV Short Film Archive present thepresent the 4848--HOUR SHORT FILM contestHOUR SHORT FILM contest The UNLV Short Film Archive and the Department of Film. are sponsoring the Fifth Annual 48- HOUR SHORT FILM CONTEST in Las

Hemmers, Oliver

423

Short Duration Base Heating Test Improvements  

NASA Technical Reports Server (NTRS)

Significant improvements have been made to a short duration space launch vehicle base heating test technique. This technique was first developed during the 1960's to investigate launch vehicle plume induced convective environments. Recent improvements include the use of coiled nitrogen buffer gas lines upstream of the hydrogen / oxygen propellant charge tubes, fast acting solenoid valves, stand alone gas delivery and data acquisition systems, and an integrated model design code. Technique improvements were successfully demonstrated during a 2.25% scale X-33 base heating test conducted in the NASA/MSFC Nozzle Test Facility in early 1999. Cost savings of approximately an order of magnitude over previous tests were realized due in large part to these improvements.

Bender, Robert L.; Dagostino, Mark G.; Engel, Bradley A.; Engel, Carl D.

1999-01-01

424

Aperture Coupled Microstrip Short Backfire Antenna  

NASA Astrophysics Data System (ADS)

A broadband aperture coupled microstrip short backfire antenna is described herein. It consists of a feed part (a microstrip feed line and a coupling slot in a metal ground) and a radiating part with two radiators: a patch antenna and a backfire antenna. The bandwidth widening of the antenna is achieved by use of two resonances: a patch resonance and a backfire resonance. The antenna is designed to operate within the Ku-band. It has a frequency bandwidth of about 15% and a maximum gain of 11.5 dBi. Within the antenna bandwidth the gain and the radiation efficiency have values more than 9 dBi and 82.1%, respectively. The designed antenna has a simple and compact construction and high mechanical and electrical characteristics. It can be used as a single antenna or as an element of microstrip antenna arrays with various applications in the contemporary communication systems.

Kirov, Georgi S.; Chervenkov, Georgi T.; Kalchev, Chavdar D.

2012-03-01

425

Brain connectivity analysis: a short survey.  

PubMed

This short survey the reviews recent literature on brain connectivity studies. It encompasses all forms of static and dynamic connectivity whether anatomical, functional, or effective. The last decade has seen an ever increasing number of studies devoted to deduce functional or effective connectivity, mostly from functional neuroimaging experiments. Resting state conditions have become a dominant experimental paradigm, and a number of resting state networks, among them the prominent default mode network, have been identified. Graphical models represent a convenient vehicle to formalize experimental findings and to closely and quantitatively characterize the various networks identified. Underlying these abstract concepts are anatomical networks, the so-called connectome, which can be investigated by functional imaging techniques as well. Future studies have to bridge the gap between anatomical neuronal connections and related functional or effective connectivities. PMID:23097663

Lang, E W; Tomé, A M; Keck, I R; Górriz-Sáez, J M; Puntonet, C G

2012-01-01

426

Short Wavelength Chemical Laser (SWCL) Workshop  

NASA Astrophysics Data System (ADS)

The workshop was held for the purpose of identifying the government's interest in SWCL technology, reviewing past and present efforts in this area and presenting the government's plans for a new thrust in SWCL source development. In addition, the workshop was to provide a forum for interaction between members of the Strategic Defense Initiation Organization (SDIO) and the 6.1 agencies with the technical community in order to create an enthusiastic response to the SWCL thrust and to generate new concepts as well as to involve new participants in this technically challenging area. This document contains abstracts of papers presented at the workshops. Some of the topics discussed in the sessions include: HF Lasers - What have we learned?; Chemical Oxygen Iodine Laser Review; Why So FEw Chemical Lasers?; Approach to Efficient Short-Wavelength Chemical Lasers; Metal/Oxidizer Systems; Pyrotechnic Systems; Metastable State Production; Metastable Transfer Systems; Energy Exchange Mechanisms.

Watt, W.

1984-12-01

427

Long pulse production from short pulses  

DOEpatents

A method of producing a long output pulse from a short pump pulse is disclosed, using an elongated amplified fiber having a doped core that provides an amplifying medium for light of one color when driven into an excited state by light of a shorter wavelength and a surrounding cladding. A seed beam of the longer wavelength is injected into the core at one end of the fiber and a pump pulse of the shorter wavelength is injected into the cladding at the other end of the fiber. The counter-propagating seed beam and pump pulse will produce an amplified output pulse having a time duration equal to twice the transit time of the pump pulse through the fiber plus the length of the pump pulse. 3 figs.

Toeppen, J.S.

1994-08-02

428

Long pulse production from short pulses  

DOEpatents

A method of producing a long output pulse (SA) from a short pump pulse (P), using an elongated amplified fiber (11) having a doped core (12) that provides an amplifying medium for light of one color when driven into an excited state by light of a shorter wavelength and a surrounding cladding 13. A seed beam (S) of the longer wavelength is injected into the core (12) at one end of the fiber (11) and a pump pulse (P) of the shorter wavelength is injected into the cladding (13) at the other end of the fiber (11). The counter-propagating seed beam (S) and pump pulse (P) will produce an amplified output pulse (SA) having a time duration equal to twice the transit time of the pump pulse (P) through the fiber (11) plus the length of the pump pulse (P).

Toeppen, John S. (Livermore, CA)

1994-01-01

429

Immunological HCV-Associated Thrombocytopenia: Short Review  

PubMed Central

Infection with Hepatitis C virus (HCV) is affecting about 3% of the world's population, leading to liver damage, end-stage liver disease, and development of hepatocellular carcinoma, being thus the first indication for liver transplantation in the USA. Apart from the cirrhotic-liver-derived clinical signs and symptoms several conditions with immunological origin can also arise, such as, glomerulonephritis, pulmonary fibrosis, and thrombocytopenia. HCV-related autoimmune thrombocytopenia shows specific pathogenetic characteristics as well as symptoms and signs that differ in severity and frequency from symptoms in patients that are not HCV infected. Aim of this short paper is to estimate the epidemiological characteristics of the disease, to investigate the pathogenesis and clinical manifestation, and to propose treatment strategies according to the pertinent literature. PMID:22829850

Dimitroulis, Dimitrios; Valsami, Serena; Stamopoulos, Paraskevas; Kouraklis, Gregory

2012-01-01

430

Short stems in total hip replacement: current status and future.  

PubMed

Short stem hip implants have been introduced as a bone preserving surgery for younger and more active people undergoing hip arthroplasty. Although many short stems are now available, clinical results and long-term survival are controversial. The aim of this paper is to describe the features of the short stems and to analyse their clinical results and long-term survival. The short-stem implants reproduce a stress distribution at the level of the proximal femur more similar to the physiological femur limiting the stress-shielding that occur with conventional cementless stems. Though short stems are an alternative to conventional stems, their use is not yet justified despite the promising short and mid-term survival results. Higher incidence of complications, such as periprosthetic fractures and malpositioning of the stem, and the lack of long-term results do not allow to predict what role in the future short stems in total hip replacement may have. PMID:24970038

Castelli, Claudio C; Rizzi, Luigi

2014-01-01

431

Inference of Isoforms from Short Sequence Reads  

PubMed Central

Abstract Due to alternative splicing events in eukaryotic species, the identification of mRNA isoforms (or splicing variants) is a difficult problem. Traditional experimental methods for this purpose are time consuming and cost ineffective. The emerging RNA-Seq technology provides a possible effective method to address this problem. Although the advantages of RNA-Seq over traditional methods in transcriptome analysis have been confirmed by many studies, the inference of isoforms from millions of short sequence reads (e.g., Illumina/Solexa reads) has remained computationally challenging. In this work, we propose a method to calculate the expression levels of isoforms and infer isoforms from short RNA-Seq reads using exon-intron boundary, transcription start site (TSS) and poly-A site (PAS) information. We first formulate the relationship among exons, isoforms, and single-end reads as a convex quadratic program, and then use an efficient algorithm (called IsoInfer) to search for isoforms. IsoInfer can calculate the expression levels of isoforms accurately if all the isoforms are known and infer novel isoforms from scratch. Our experimental tests on known mouse isoforms with both simulated expression levels and reads demonstrate that IsoInfer is able to calculate the expression levels of isoforms with an accuracy comparable to the state-of-the-art statistical method and a 60 times faster speed. Moreover, our tests on both simulated and real reads show that it achieves a good precision and sensitivity in inferring isoforms when given accurate exon-intron boundary, TSS, and PAS information, especially for isoforms whose expression levels are significantly high. The software is publicly available for free at http://www.cs.ucr.edu/?jianxing/IsoInfer.html. PMID:21385036

Li, Wei; Jiang, Tao

2011-01-01

432

Quantifying population structure on short timescales.  

PubMed

Quantifying the contribution of the various processes that influence population genetic structure is important, but difficult. One of the reasons is that no single measure appropriately quantifies all aspects of genetic structure. An increasing number of studies is analysing population structure using the statistic D, which measures genetic differentiation, next to G(ST) , which quantifies the standardized variance in allele frequencies among populations. Few studies have evaluated which statistic is most appropriate in particular situations. In this study, we evaluated which index is more suitable in quantifying postglacial divergence between three-spined stickleback (Gasterosteus aculeatus) populations from Western Europe. Population structure on this short timescale (10?000 generations) is probably shaped by colonization history, followed by migration and drift. Using microsatellite markers and anticipating that D and G(ST) might have different capacities to reveal these processes, we evaluated population structure at two levels: (i) between lowland and upland populations, aiming to infer historical processes; and (ii) among upland populations, aiming to quantify contemporary processes. In the first case, only D revealed clear clusters of populations, putatively indicative of population ancestry. In the second case, only G(ST) was indicative for the balance between migration and drift. Simulations of colonization and subsequent divergence in a hierarchical stepping stone model confirmed this discrepancy, which becomes particularly strong for markers with moderate to high mutation rates. We conclude that on short timescales, and across strong clines in population size and connectivity, D is useful to infer colonization history, whereas G(ST) is sensitive to more recent demographic events. PMID:22646231

Raeymaekers, Joost A M; Lens, Luc; Van den Broeck, Frederik; Van Dongen, Stefan; Volckaert, Filip A M

2012-07-01

433

Short- and Middle-Term Earthquake Precursors  

NASA Astrophysics Data System (ADS)

Earthquakes are commonly believed to result from slip instability along a fault or from formation of a new fracture that is near the direction of maximum shear stress. The behavior of a geomechanical system as it approaches instability, or catastrophic failure, has been described in earlier work by the author [Dubrovskiy, 1984; Dubrovskiy and Sergeev, 2004] as a "short-term universal precursor" theorem. According to this theorem, if the system has the state of the unstable equilibrium at some set of the critical parameters describing it and this set separates areas of the parameters values relevant to a stable state and unstable state of the system then in stable parameters area external load would cause eigen oscillation of the system with frequencies, which will tend to zero if the system approaches unstable equilibrium at the finite critical wavelengths. Thus prior to an earthquake, one should be able to observe slow oscillations with a frequency that tends to zero as the earthquake approaches. In a system where friction is velocity and displacement dependent, the predicted perturbing oscillations are fault-zone trapped waves. They are propagating along fault (their amplitude attenuates exponentially perpendicular to the fault) and perturbing fault slip speed [Li, Leary, Aki, Malin, 1990]. If trapped waves amplitude is growing with time then the process of the fault slip with uniform speed became unstable and slip instability takes place according to principle of the linear instability. Physically it means that energy is pumping from basic state of the uniform fault slip speed to the trapped waves as the disturbance of this state. The dispersion relation of the trapped waves resembles the well known Rayleigh wave equation; however, the right-hand side of the equation is not zero but a term that depends on friction and wave number [Dubrovskiy and Dieterich, 1990]. At the limit of zero frequency, the trapped waves dispersion equation have solution for some critical wave length only if the friction coefficient has an inverse dependence on displacement, i.e. then the condition of the universal precursor theorem is fulfilled and decreasing of trapped wave frequency (and thereby phase velocity) will be short term precursors of the catastrophic slip instability along fault (earthquake). Such an inverse dependence is known as "friction memory" and means that during slip the opposing fault surfaces become smoother. The value of the inverse dependence on displacement determines some characteristic wave length and consequently the locked and slipping parts of the fault surface will appear. These trapped waves are "short-term" precursors to failure. To look for "middle-term" precursors, we turn to the phenomenon of creep, or plastic behavior, that is observed in the laboratory or in nature prior to failure. Linearizing and solving the linearized equations of ideal plasticity, we find that kx/ky? cx/cy=tan? (or -cot?), where kx and ky are x and y components of the wave vector k and cx and cy are x and y components of the phase velocity c, ? is the angle between the direction of maximum shear stress (actually fault direction in the case of a new fracture) and x axis. Thus, one could observe the onset of seismic wave anisotropy as a "middle-term" precursor to an earthquake. The time behavior of this "middle-term" precursor can be obtained by solving the full time depended plasticity equations. I am grateful to Gary Fuis (USGS) for useful discussions. This work was supported by Russian Foundation for Basic Research, project no. 03-05-64087.

Dubrovskiy, V.

2005-12-01

434

On-Demand Cell Internal Short Circuit Device  

NASA Technical Reports Server (NTRS)

A device implantable in Li-ion cells that can generate a hard internal short circuit on-demand by exposing the cell to 60?C has been demonstrated to be valuable for expanding our understanding of cell responses. The device provides a negligible impact to cell performance and enables the instigation of the 4 general categories of cell internal shorts to determine relative severity and cell design susceptibility. Tests with a 18650 cell design indicates that the anode active material short to the aluminum cathode current collector tends to be more catastrophic than the 3 other types of internal shorts. Advanced safety features (such as shutdown separators) to prevent or mitigate the severity of cell internal shorts can be verified with this device. The hard short success rate achieved to date in 18650 cells is about 80%, which is sufficient for using these cells in battery assemblies for field-failure-relevant, cell-cell thermal runaway propagation verification tests

Darcy, Eric; Keyser, Matthew

2014-01-01

435

Optimization of short amino acid sequences classifier  

NASA Astrophysics Data System (ADS)

This article describes processing methods used for short amino acid sequences classification. The data processed are 9-symbols string representations of amino acid sequences, divided into 49 data sets - each one containing samples labeled as reacting or not with given enzyme. The goal of the classification is to determine for a single enzyme, whether an amino acid sequence would react with it or not. Each data set is processed separately. Feature selection is performed to reduce the number of dimensions for each data set. The method used for feature selection consists of two phases. During the first phase, significant positions are selected using Classification and Regression Trees. Afterwards, symbols appearing at the selected positions are substituted with numeric values of amino acid properties taken from the AAindex database. In the second phase the new set of features is reduced using a correlation-based ranking formula and Gram-Schmidt orthogonalization. Finally, the preprocessed data is used for training LS-SVM classifiers. SPDE, an evolutionary algorithm, is used to obtain optimal hyperparameters for the LS-SVM classifier, such as error penalty parameter C and kernel-specific hyperparameters. A simple score penalty is used to adapt the SPDE algorithm to the task of selecting classifiers with best performance measures values.

Barcz, Aleksy; Szyma?ski, Zbigniew

436

Randomly connected networks have short temporal memory.  

PubMed

The brain is easily able to process and categorize complex time-varying signals. For example, the two sentences, "It is cold in London this time of year" and "It is hot in London this time of year," have different meanings, even though the words hot and cold appear several seconds before the ends of the two sentences. Any network that can tell these sentences apart must therefore have a long temporal memory. In other words, the current state of the network must depend on events that happened several seconds ago. This is a difficult task, as neurons are dominated by relatively short time constants--tens to hundreds of milliseconds. Nevertheless, it was recently proposed that randomly connected networks could exhibit the long memories necessary for complex temporal processing. This is an attractive idea, both for its simplicity and because little tuning of recurrent synaptic weights is required. However, we show that when connectivity is high, as it is in the mammalian brain, randomly connected networks cannot exhibit temporal memory much longer than the time constants of their constituent neurons. PMID:23517097

Wallace, Edward; Maei, Hamid Reza; Latham, Peter E

2013-06-01

437

Short-term energy outlook, April 1999  

SciTech Connect

The forecast period for this issue of the Outlook extends from April 1999 through December 2000. Data values for the first quarter 1999, however, are preliminary EIA estimates (for example, some monthly values for petroleum supply and disposition are derived in part from weekly data reported in EIA`s Weekly Petroleum Status Report) or are calculated from model simulations that use the latest exogenous information available (for example, electricity sales and generation are simulated by using actual weather data). The historical energy data, compiled in the April 1999 version of the Short-Term Integrated forecasting system (STIFS) database, are mostly EIA data regularly published in the Monthly Energy Review, Petroleum Supply Monthly, and other EIA publications. Minor discrepancies between the data in these publications and the historical data in this Outlook are due to independent rounding. The STIFS model is driven principally by three sets of assumptions or inputs: estimates of key macroeconomic variables, world oil price assumptions, and assumptions about the severity of weather. Macroeconomic estimates are produced by DRI/McGraw-Hill but are adjusted by EIA to reflect EIA assumptions about the world price of crude oil, energy product prices, and other assumptions which may affect the macroeconomic outlook. By varying the assumptions, alternative cases are produced by using the STIFS model. 25 figs., 19 tabs.

NONE

1999-04-01

438

Resummation of semiclassical short folded string  

NASA Astrophysics Data System (ADS)

We reconsider semiclassical quantization of folded string spinning in AdS3 part of AdS5 × S5 using integrability-based (algebraic curve) method. We focus on the "short string" (small spin S) limit with the angular momentum J in S 5 scaled down according to {mathcal J} = ? sqrt {S} in terms of the variables {mathcal J} = J/ sqrt {? } , S = S/ sqrt {? } . The semi-classical string energy in this particular scaling limit admits the double expansion E = {sum {_{{n = 0}}^{infty }sum {_{{p = 0}}^{infty }left( {sqrt {? } } right)} }^{{1 - n}}}{a_{{n,p}}}left( ? right){S^{{P + 1/2}}} . It behaves smoothly as J ? 0 and partially resums recent results by Gromov and Valatka. We explicitly compute various one-loop coefficients a1, p ( ?) by summing over the fluctuation frequencies for integrable perturbations around the classical solution. For the simple folded string, the result agrees with what could be derived exploiting a recent conjecture of Basso. However, the method can be extended to more general situations. As an example, we consider the m-folded string where Basso's conjecture fails. For this classical solution, we present the exact values of a 1,0( ?) and a 1,1( ?) for m = 2, 3, 4, 5 and explain how to work out the general case.

Beccaria, Matteo; Macorini, Guido

2012-02-01

439

Short-term efficacy of nasal immunotherapy.  

PubMed

The purpose of this study was to evaluate the efficacy of nasal immunotherapy in the management of allergic rhinitis. Sixteen patients (10 Female; 6 Male) aged 15-60 years (mean age--31.9) were selected on the bases of clinical history, skin prick tests and RAST positivity. Allergen extract is a "macronized" powder form (Allerkin), it was supplied by Laboratorio Farmaceutico Lofarma (Milano Italy) and administered for 12 months to 8 patients with perennial rhinitis (Dermatophagoides extract) and for 6 months to 8 patients with seasonal rhinitis (grass or Parietaria pollens extract). This treatment was carried out by self administration in two phases: the first one (3 months) consisted of administration of increasing doses; the second phase (maintenance period) was carried out 3 months in seasonal rhinitis and 9 months in perennial rhinitis. All the patients were evaluated before and after immunotherapy and scores from 0 to 3 were attributed according to the symptoms presented and need of drugs for symptomatic relief. Scores before and after immunotherapy were compared using the Wilcoxon Matched-Pairs Signed-Ranks Test and a significant decrease was observed for every symptom in seasonal and perennial rhinitis (p < 0.05). In conclusion, this trial shows that nasal immunotherapy in powder form can be a valuable short-term option in patients with allergic rhinitis. PMID:9503098

Palma-Carlos, A G; Santos, A S; Pregal, A

1998-01-01

440

Short read alignment with populations of genomes  

PubMed Central

Summary: The increasing availability of high-throughput sequencing technologies has led to thousands of human genomes having been sequenced in the past years. Efforts such as the 1000 Genomes Project further add to the availability of human genome variation data. However, to date, there is no method that can map reads of a newly sequenced human genome to a large collection of genomes. Instead, methods rely on aligning reads to a single reference genome. This leads to inherent biases and lower accuracy. To tackle this problem, a new alignment tool BWBBLE is introduced in this article. We (i) introduce a new compressed representation of a collection of genomes, which explicitly tackles the genomic variation observed at every position, and (ii) design a new alignment algorithm based on the Burrows–Wheeler transform that maps short reads from a newly sequenced genome to an arbitrary collection of two or more (up to millions of) genomes with high accuracy and no inherent bias to one specific genome. Availability: http://viq854.github.com/bwbble. Contact: serafim@cs.stanford.edu PMID:23813006

Huang, Lin; Popic, Victoria; Batzoglou, Serafim

2013-01-01

441

Immune changes during short-duration missions  

NASA Technical Reports Server (NTRS)

Spaceflight materially influences the immune mechanism of humans and animals. Effects resulting from missions of less than 1 month are examined. Effects from longer missions are discussed in the companion paper by Konstantinova et al. Most immunology studies have involved analyses of subjects and samples from subjects obtained after flight, with the data being compared with similar data obtained before flight. These studies have demonstrated that short-duration missions can result in a postflight depression in blast cell transformation, major changes in cytokine function, and alterations in the relative numbers of immune cell populations. In addition to these post- vs. preflight studies, some data have been produced in flight. However, these in vitro analyses have been less than satisfactory because of differences between in-flight and ground-control conditions. Recently, both the U.S. and Russian space programs have started collecting in-flight, in vivo, cell-mediated immunity data. These studies have confirmed that the human cell-mediated immune system is blunted during spaceflight.

Taylor, G. R.

1993-01-01

442

Continuity of Landsat observations: Short term considerations  

USGS Publications Warehouse

As of writing in mid-2010, both Landsat-5 and -7 continue to function, with sufficient fuel to enable data collection until the launch of the Landsat Data Continuity Mission (LDCM) scheduled for December of 2012. Failure of one or both of Landsat-5 or -7 may result in a lack of Landsat data for a period of time until the 2012 launch. Although the potential risk of a component failure increases the longer the sensor's design life is exceeded, the possible gap in Landsat data acquisition is reduced with each passing day and the risk of Landsat imagery being unavailable diminishes for all except a handful of applications that are particularly data demanding. Advances in Landsat data compositing and fusion are providing opportunities to address issues associated with Landsat-7 SLC-off imagery and to mitigate a potential acquisition gap through the integration of imagery from different sensors. The latter will likely also provide short-term, regional solutions to application-specific needs for the continuity of Landsat-like observations. Our goal in this communication is not to minimize the community's concerns regarding a gap in Landsat observations, but rather to clarify how the current situation has evolved and provide an up-to-date understanding of the circumstances, implications, and mitigation options related to a potential gap in the Landsat data record. ?? 2010.

Wulder, M.A.; White, J.C.; Masek, J.G.; Dwyer, J.; Roy, D.P.

2011-01-01

443

Radio Astronomy in Serbia: A Short Review  

NASA Astrophysics Data System (ADS)

In this lecture, I presented a short review of: 1. the brief history of development of radio astronomy in Serbia, and 2. the present state of research and university teaching in Serbia on this interesting and modern field of astronomy. Since 1970's, the continuum observations at the lowest radio frequencies (e.g. 38 MHz) and the Galactic radio loops have been represented the topics of main research interest for the first radio astronomer in Serbia, prof. dr Jelena Milogradov-Turin. In 1983, she introduced Radio astronomy as two semester course at 4th year of studies at Department of astronomy, Faculty of Mathematics, University of Belgrade. In this moment we have radio astronomy group with 5 (mainly younger) researchers from Department of Astronomy and Belgrade Astronomical Observatory. The main fields of research interest are, as a part of tradition, the Galactic radio loops and additionally, the hydrodynamic and radio evolution of supernova remnants. Our future projects will be connected with radio evolution of nova remnants and planetary nebulae.

Urosevic, D.

444

A Silurian short-great-appendage arthropod.  

PubMed

A new arthropod, Enalikter aphson gen. et sp. nov., is described from the Silurian (Wenlock Series) Herefordshire Lagerstätte of the UK. It belongs to the Megacheira (=short-great-appendage group), which is recognized here, for the first time, in strata younger than mid-Cambrian age. Discovery of this new Silurian taxon allows us to identify a Devonian megacheiran representative, Bundenbachiellus giganteus from the Hunsrück Slate of Germany. The phylogenetic position of megacheirans is controversial: they have been interpreted as stem chelicerates, or stem euarthropods, but when Enalikter and Bundenbachiellus are added to the most comprehensive morphological database available, a stem euarthropod position is supported. Enalikter represents the only fully three-dimensionally preserved stem-group euarthropod, it falls in the sister clade to the crown-group euarthropods, and it provides new insights surrounding the origin and early evolution of the euarthropods. Recognition of Enalikter and Bundenbachiellus as megacheirans indicates that this major arthropod group survived for nearly 100 Myr beyond the mid-Cambrian. PMID:24452026

Siveter, Derek J; Briggs, Derek E G; Siveter, David J; Sutton, Mark D; Legg, David; Joomun, Sarah

2014-03-01

445

A Silurian short-great-appendage arthropod  

PubMed Central

A new arthropod, Enalikter aphson gen. et sp. nov., is described from the Silurian (Wenlock Series) Herefordshire Lagerstätte of the UK. It belongs to the Megacheira (=short-great-appendage group), which is recognized here, for the first time, in strata younger than mid-Cambrian age. Discovery of this new Silurian taxon allows us to identify a Devonian megacheiran representative, Bundenbachiellus giganteus from the Hunsrück Slate of Germany. The phylogenetic position of megacheirans is controversial: they have been interpreted as stem chelicerates, or stem euarthropods, but when Enalikter and Bundenbachiellus are added to the most comprehensive morphological database available, a stem euarthropod position is supported. Enalikter represents the only fully three-dimensionally preserved stem-group euarthropod, it falls in the sister clade to the crown-group euarthropods, and it provides new insights surrounding the origin and early evolution of the euarthropods. Recognition of Enalikter and Bundenbachiellus as megacheirans indicates that this major arthropod group survived for nearly 100 Myr beyond the mid-Cambrian. PMID:24452026

Siveter, Derek J.; Briggs, Derek E. G.; Siveter, David J.; Sutton, Mark D.; Legg, David; Joomun, Sarah

2014-01-01

446

Refrigerant Flow Through Flexible Short-Tube Orifices  

Microsoft Academic Search

Flexible short-tube orifices were designed to decrease their diameter as the pressure differential across them increases under high outdoor temperatures. A series of tests for an R-22\\/lubricant mixture (mass fraction of oil 1.2%) were performed with two flexible short-tube orifices to develop flow data over a range of typical air conditioner operating conditions. One short tube had a modulus of

Y. C. Kim; D. L. ONeal; W. V. Payne; M. Farzad

2002-01-01

447

Biosensors and Bioelectronics 22 (2007) 32523255 Short communication  

E-print Network

Biosensors and Bioelectronics 22 (2007) 3252­3255 Short communication Increased power production). Electricigenic bacteria in the sediment transfer electrons pro- duced during the oxidation of organic

448

Short-term energy outlook. Quarterly projections, Third quarter 1994  

SciTech Connect

The Energy Information Administration (EIA) prepares quarterly, short-term energy supply, demand, and price projections for publication in February, May, August, and November in the Short-Term Energy Outlook (Outlook). An annual supplement analyzes the performance of previous forecasts, compares recent cases with those of other forecasting services, and discusses current topics related to the short-term energy markets. (See Short-Term Energy Outlook Annual Supplement, DOE/EIA-0202). The feature article for this issue is Demand, Supply and Price Outlook for Reformulated Gasoline, 1995.

Not Available

1994-08-02

449

Short Rotation Crops in the United States  

SciTech Connect

The report is based primarily on the results of survey questions sent to approximately 60 woody and 20 herbaceous crop researchers in the United States and on information from the U.S. Department of Energy?s Bioenergy Feedstock Development Program. Responses were received from 13 individuals involved in woody crops research or industrial commercialization (with 5 of the responses coming from industry). Responses were received from 11 individuals involved in herbaceous crop research. Opinions on market incentives, technical and non-technical barriers, and highest priority research and development areas are summarized in the text. Details on research activities of the survey responders are provided as appendices to the paper. Woody crops grown as single-stem systems (primarily Populus and Eucalyptus species) are perceived to have strong pulp fiber and oriented strand board markets, and the survey responders anticipated that energy will comprise 25% or less of the utilization of single-stem short-rotation woody crops between now and 2010. The only exception was a response from California where a substantial biomass energy market does currently exist. Willows (Salix species) are only being developed for energy and only in one part of the United States at present. Responses from herbaceous crop researchers suggested frustration that markets (including biomass energy markets) do not currently exist for the crop, and it was the perception of many that federal incentives will be needed to create such markets. In all crops, responses indicate that a wide variety of research and development activities are needed to enhance the yields and profitability of the crops. Ongoing research activities funded by the U.S. Department of Energy?s Bioenergy Feedstock Development Program are described in an appendix to the paper.

Wright, L.L.

1998-06-04

450

SHORT DYNAMIC FIBRILS IN SUNSPOT CHROMOSPHERES  

SciTech Connect

Sunspot chromospheres display vigorous oscillatory signatures when observed using chromospheric diagnostics such as the strong Ca II lines and H?. New high-resolution sunspot observations from the Swedish 1 m Solar Telescope show the ubiquitous presence of small-scale, periodic, jet-like features that move up and down. This phenomenon has not been described before. The typical width of these features is about 0.''3 and they display clear parabolic trajectories in space-time diagrams. The maximum extension of the top of the jets is lowest in the umbra, a few 100 km, and progressively longer further away from the umbra in the penumbra, with the longest extending more than 1000 km. These jets resemble the dynamic fibrils found in plage regions but at smaller extensions. Local thermodynamic equilibrium inversion of spectropolarimetric Ca II 8542 observations enabled a comparison of the magnetic field inclination and properties of these short jets. We find that the most extended of these jets also have longer periods and tend to be located in regions with more horizontal magnetic fields. These results are direct observational confirmation of the mechanism of long-period waves propagating along inclined magnetic fields into the solar chromosphere. This mechanism was identified earlier as the driver of dynamic fibrils in plage, part of the mottles in the quiet Sun, and the type I spicules at the limb. The sunspot dynamic fibrils that we report here represent a new class of manifestation of this mechanism, distinct from the transient penumbral and umbral micro-jets reported earlier.

Rouppe van der Voort, L. [Institute of Theoretical Astrophysics, University of Oslo, P.O. Box 1029 Blindern, N-0315 Oslo (Norway); De la Cruz Rodríguez, J. [Department of Physics and Astronomy, Uppsala University, Box 516, SE-75120 Uppsala (Sweden)

2013-10-10

451

On the security of a certificateless short signature scheme  

E-print Network

On the security of a certificateless short signature scheme Miaomiao Tian , Liusheng Huang, and Wei-level security. Recently, Choi et al. presented a certificateless short signature scheme and claimed that it is provably secure against the super adver- saries. Nevertheless, in this paper, we show that their scheme

International Association for Cryptologic Research (IACR)

452

Temporal Dynamics of Recovery from Extinction Shortly after Extinction Acquisition  

ERIC Educational Resources Information Center

Evidence suggests that extinction is new learning. Memory acquisition involves both short-term memory (STM) and long-term memory (LTM) components; however, few studies have examined early phases of extinction retention. Retention of auditory fear extinction was examined at various time points. Shortly (1-4 h) after extinction acquisition…

Archbold, Georgina E.; Dobbek, Nick; Nader, Karim

2013-01-01

453

Double Dissociations in Visual and Spatial Short-Term Memory  

ERIC Educational Resources Information Center

A visual short-term memory task was more strongly disrupted by visual than spatial interference, and a spatial memory task was simultaneously more strongly disrupted by spatial than visual interference. This double dissociation supports a fractionation of visuospatial short-term memory into separate visual and spatial components. In 6 experiments,…

Klauer, Karl Christoph; Zhao, Zengmei

2004-01-01

454

PRIMES IN SHORT ARITHMETIC PROGRESSIONS WITH RAPIDLY INCREASING DIFFERENCES  

Microsoft Academic Search

Primes are, on average, well distributed in short segments of arith- metic progressions, even if the associated moduli grow rapidly. 1. Statement of results In this paper I establish two results concerning the distribution of prime numbers in short segments of residue classes to widely separated moduli. Let (n) denote von Mangoldt's function, logp if n is a power of

P. D. T. A. ELLIOTT

2001-01-01

455

ORIGINAL PAPER Introduction to the Special Issues: Short-term  

E-print Network

in short-term cardiovascular­respiratory regulation, (ii) to develop mathematical models that can improve people short-term regulation adapts quickly, but in elderly people and in people with cardiovascular diseases these regulation mechanisms are delayed, and responses are often diminished and/or impaired. Thus

Olufsen, Mette Sofie

456

Short Single Axioms for Boolean Algebra William McCune  

E-print Network

Short Single Axioms for Boolean Algebra William McCune Mathematics & Computer Science Division.) Abstract. We present short single equational axioms for Boolean algebra in terms of disjunction and negation and in terms of the Sheffer stroke. Previously known single axioms for these theories are much

McCune, William

457

A Short Sheffer Axiom for Boolean Algebra Robert Veroff \\Lambda  

E-print Network

A Short Sheffer Axiom for Boolean Algebra Robert Veroff \\Lambda Computer Science Department://www.mcs.anl.gov/�mccune June 2000 Abstract A short Sheffer stroke identity is shown to be a single axiom for Boolean alge­ bra. The axiom has length 15 and 3 variables. The proof shows that it is equivalent to Sheffer's original 3­basis

Veroff, Robert

458

Fuzzy system applications for short-term electric load forecasting  

Microsoft Academic Search

Load forecasting is an important function in economic power generation, allocation between plants (Unit Commitment Scheduling), maintenance scheduling, and for system security applications such as peak shaving by power interchange with interconnected utilities. In this thesis the problem of fuzzy short term load forecasting is formulated and solved. The thesis starts with a discussion of conventional algorithms used in short-term

Ahmad Mohammad Al-Kandari

2001-01-01

459

Short-circuit current model of organic solar cells  

NASA Astrophysics Data System (ADS)

A physical model is presented for short-circuit current of organic solar cells based on the flow of both majority and minority carriers. According to the proposed model, the temperature, free carrier generation rate, light intensity, donor and acceptor dopant concentration dependences of short-circuit current can be well described. Good agreement between the calculated results and experimental data is found.

Lu, Nianduan; Li, Ling; Sun, Pengxiao; Liu, Ming

2014-10-01

460

Type Inference Builds a Short Cut to Deforestation Olaf Chitil  

E-print Network

Type Inference Builds a Short Cut to Deforestation Olaf Chitil Lehrstuhl f¨ur Informatik II, RWTH Aachen, 52056 Aachen, Germany chitil@informatik.rwth-aachen.de Abstract Deforestation optimises structures. Short cut deforestation is a de- forestation method which is based on a single, local trans

Kent, University of

461

Teachable Anthologies of Short Fiction for Developmental Students.  

ERIC Educational Resources Information Center

Explains the rationale for including short fiction in the curricula for two college developmental reading classes and describes the features of the anthologies used. Suggests the use of the middle and the advanced levels of "Best Short Stories" published by Jamestown Publishers. Notes that these anthologies contain features that make them very…

Ngovo, Bernard L.

2002-01-01

462

Short-Form Philadelphia Naming Test: Rationale and Empirical Evaluation  

ERIC Educational Resources Information Center

Purpose: To create two matched short forms of the Philadelphia Naming Test (PNT; Roach, Schwartz, Martin, Grewal, & Brecher, 1996) that yield similar results to the PNT for measuring anomia. Method: In Study 1, archived naming data from 94 individuals with aphasia were used to identify which PNT items should be included in the short forms. The 2…

Walker, Grant M.; Schwartz, Myrna F.

2012-01-01

463

On the Consistency of Individual Classification Using Short Scales  

ERIC Educational Resources Information Center

Short tests containing at most 15 items are used in clinical and health psychology, medicine, and psychiatry for making decisions about patients. Because short tests have large measurement error, the authors ask whether they are reliable enough for classifying patients into a treatment and a nontreatment group. For a given certainty level,…

Emons, Wilco H. M.; Sijtsma, Klaas; Meijer, Rob R.

2007-01-01

464

ROBERT B. SHORT SCHOLARSHIP IN ZOOLOGY Department of Biological Science  

E-print Network

ROBERT B. SHORT SCHOLARSHIP IN ZOOLOGY Department of Biological Science Florida State University The Robert B. Short Scholarship in Zoology provides an award of up to $1,000 to a currently enrolled graduate Science with a career interest in zoology. The scholarship will support the awardee's participation

Ronquist, Fredrik

465

Short-Term Memory for Auditory Sequences and Reading Skill.  

ERIC Educational Resources Information Center

A study investigated connections between reading difficulties and short term memory processes in order to explore the psychological basis for some individual differences in reading comprehension skills. Drawing on previous research indicating that poor readers were inferior to normal ones in judging whether two patterns of long and short tones…

Holzman, Thomas G.; Payne, M. Carr, Jr.

466

Managing high IC yields with short cycle times  

Microsoft Academic Search

High IC yields are the key to low product costs, essential for profitable pursuit of high volume GaAs IC markets for consumer applications. Short product development cycle times are essential for getting entry into such markets. Technology has been moving at a fast pace and product life cycles are getting shorter. Short development cycle times are needed not only to

S. Khetan; P. Fowler

1995-01-01

467

Short-term energy outlook annual supplement, 1993  

SciTech Connect

The Short-Term Energy Outlook Annual Supplement (supplement) is published once a year as a complement to the Short-Term Energy Outlook (Outlook), Quarterly Projections. The purpose of the Supplement is to review the accuracy of the forecasts published in the Outlook, make comparisons with other independent energy forecasts, and examine current energy topics that affect the forecasts.

NONE

1993-08-06

468

Teaching the Short Story. Davis Publications in English Number Two.  

ERIC Educational Resources Information Center

Although there are several kinds of short stories, all "demand an intense concision and economy and all must somehow achieve a satisfying sense of finality." Form, not subject matter, distinguishes the short story from other fiction. The traditionally plotted story consists of a "situation," the "complication," the "climax," and the "denouement."…

Stegner, Wallace

469

Texas Watershed Coordinators Meeting / Watershed Planning Short Course  

E-print Network

Texas Watershed Coordinators Meeting / Watershed Planning Short Course Planning Team Meeting August 20, 2007 10:00 am ­ 3:00 pm Agenda Purpose of Meeting: · Discuss Ongoing And Completed Watershed Planning Efforts · Provide Input On Watershed Planning Short Course · Review Watershed Steward Program

470

Reverse tracing of short-term earthquake precursors  

Microsoft Academic Search

We introduce a new approach to short-term earthquake prediction named “Reverse Tracing of Precursors” (RTP), since it considers precursors in reverse order of their appearance. First, we detect the “candidates” for the short-term precursors; in our case, these are newly introduced chains of earthquakes reflecting the rise of an earthquake correlation range. Then we consider each chain, one by one,

V. Keilis-Borok; P. Shebalin; A. Gabrielov; D. Turcotte

2004-01-01

471

75 FR 24497 - Short-Term, Small Amount Loans  

Federal Register 2010, 2011, 2012, 2013, 2014

...12 CFR Part 701 RIN 3133-AD71 Short-Term, Small Amount Loans AGENCY: National...credit unions (FCUs) to offer short-term, small amount loans (STS loans) as a...will impose limitations on the permissible term, amount, and fees associated with...

2010-05-05

472

A Short-Term Delivery Model for Counseling Services.  

ERIC Educational Resources Information Center

The author discusses a short-term delivery model which forms the essential mode of operation at the counseling center at Rhode Island College. He prefaces his discription of the model by indicating that not all clients, problems or counselors are amenable to this short-term approach. There are three steps or elements in the delivery model: 1)…

Knott, J. Eugene

473

29 CFR 778.306 - Salary reductions in short workweeks.  

Code of Federal Regulations, 2010 CFR

...2010-07-01 2010-07-01 false Salary reductions in short workweeks. 778...Affect the Regular Rate § 778.306 Salary reductions in short workweeks. (a...If an employee is compensated at a fixed salary for a fixed workweek and if...

2010-07-01

474

29 CFR 778.306 - Salary reductions in short workweeks.  

Code of Federal Regulations, 2011 CFR

...2011-07-01 2011-07-01 false Salary reductions in short workweeks. 778...Affect the Regular Rate § 778.306 Salary reductions in short workweeks. (a...If an employee is compensated at a fixed salary for a fixed workweek and if...

2011-07-01

475

Patriarchal Structures in Gothic Short Fiction, 1770-1820  

Microsoft Academic Search

Gothic short fiction of the late eighteenth and early nineteenth centuries in England was immensely popular with readers of all social classes and incomes. This study examines the varying models of paternity in this short fiction, and addresses what those types of paternity (biological, adoptive, and Catholic) suggest about English social, political, and religious structures of the Romantic era. Biological

Lauren L. Murphey

2006-01-01

476

Assembling millions of short DNA sequences using SSAKE  

Microsoft Academic Search

Summary: Novel DNA sequencing technologies with the potential for up to three orders magnitude more sequence throughput than conventional Sanger sequencing are emerging. The instrument now available from Solexa Ltd, produces millions of short DNA sequences of 25 nucleotides each. Due to ubiquitous repeats in large genomes and the inability of short sequences to uniquely and unambiguously characterize them, the

René L. Warren; Granger G. Sutton; Steven J. M. Jones; Robert A. Holt

2007-01-01

477

Temperature dependent deuterium quadrupole coupling constants of short hydrogen bonds  

E-print Network

Temperature dependent deuterium quadrupole coupling constants of short hydrogen bonds Xingang Zhao January 2006 Abstract Very short hydrogen bonds universally show large positive dependences and intermode couplings. q 2006 Published by Elsevier B.V. Keywords: Hydrogen bonds; NMR; Deuterium quadrupole 1

Barsegov, Valeri

478

Keeping It Real: Substantive Learning on a Short Calendar  

ERIC Educational Resources Information Center

Many institutions offer courses that last less than a quarter and are a student's sole academic responsibility for that short term. There is an unfortunate and incorrect perception that such short classes cannot be used to teach substantively. At Colorado College, we teach all of our courses in 3.5 wk, including majors' courses in molecular cell…

Lostroh, C. Phoebe

2007-01-01

479

Sleep-Wake Actigraphy and Light Exposure During Spaceflight - Short  

NASA Technical Reports Server (NTRS)

Sleep-Wake Actigraphy and Light Exposure During Spaceflight - Short (Sleep-Short) will examine the effects of spaceflight on the sleep of the astronauts during space shuttle missions. Advancing state-of-the-art technology for monitoring, diagnosing and assessing treatment of sleep patterns is vital to treating insomnia on Earth and in space.

Czeisler, Charles A.; Wright, Kenneth P., Jr.; Ronda, Joseph

2009-01-01

480

SHORT-RANGE FMCW RADAR PLATFORM FOR MILLIMETRIC DISPLACEMENTS MEASUREMENT  

E-print Network

of the 8-12 GHz short range FMCW radar platform is shown in Fig. 1. The command signal is a linear tuningSHORT-RANGE FMCW RADAR PLATFORM FOR MILLIMETRIC DISPLACEMENTS MEASUREMENT Andrei Anghel Gabriel A frequency modulated continuous wave (FMCW) radar plat- form for millimetric displacement measurements

Paris-Sud XI, Université de

481

Urban Housing Markets Modelling: Short-Run Equilibrium Implications  

Microsoft Academic Search

This paper tests for the existence of short-run equilibrium in the urban housing market in Metropolitan Toronto. The alternative hypothesis is the housing market segmented with respect to locational and structural attributes. We found insignificant differences in attribute prices across hypothesized submarkets. This implies that an unstratified hedonic price regressions model, based on the assumption of short-run equilibrium, is equally

Vladimir Bajic

1983-01-01

482

Short wavelength electromagnetic propagation in magnetized quantum plasmas  

Microsoft Academic Search

The quantum electrodynamical (QED) short wavelength correction on plasma wave propagation for a nonrelativistic quantum plasma is investigated. A general dispersion relation for a thermal multicomponent quantum plasma is derived. It is found that the classical dispersion relation for any wave mode can be modified to include quantum and short wavelength QED effects by simple substitutions of the thermal velocity

J. Lundin; J. Zamanian; M. Marklund; G. Brodin

2007-01-01

483

ORIGINAL CONTRIBUTION Ozone and Short-term Mortality  

E-print Network

ORIGINAL CONTRIBUTION Ozone and Short-term Mortality in 95 US Urban Communities, 1987-2000 MichelleD E XPOSURE TO TROPOSPHERIC OZONE is widespread in the United States,1,2 occurring also outside southernCalifornia,whereozone formation was first recognized.3 Short- term exposure to ozone has been

Dominici, Francesca

484

Short-Term Temporal Stability in Observed Retail Food Characteristics  

ERIC Educational Resources Information Center

Objective: Use of direct observation to characterize neighborhood retail food environments is increasing, but to date most studies have relied on a single observation. If food availability, prices, and quality vary over short time periods, repeated measures may be needed to portray these food characteristics. This study evaluated short-term…

Zenk, Shannon N.; Grigsby-Toussaint, Diana S.; Curry, Susan J.; Berbaum, Michael; Schneider, Linda

2010-01-01