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Sample records for short stature hypotonia

  1. Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature.

    PubMed

    Dukes-Rimsky, Lynn; Guzauskas, Gregory F; Holden, Kenton R; Griggs, Rachel; Ladd, Sydney; Montoya, Maria del Carmen; DuPont, Barbara R; Srivastava, Anand K

    2011-09-01

    Chromosomal imbalances are a major cause of intellectual disability (ID) and multiple congenital anomalies. We have clinically and molecularly characterized two patients with chromosome translocations and ID. Using whole genome array CGH analysis, we identified a microdeletion involving 4q21.3, unrelated to the translocations in both patients. We confirmed the 4q21.3 microdeletions using fluorescence in situ hybridization and quantitative genomic PCR. The corresponding deletion boundaries in the patients were further mapped and compared to previously reported 4q21 deletions and the associated clinical features. We determined a common region of deletion overlap that appears unique to ID, short stature, hypotonia, and dysmorphic facial features. PMID:21834054

  2. Short stature

    MedlinePLUS

    Idiopathic short stature; Non-growth hormone deficient short stature ... Turner syndrome Williams syndrome Other reasons include: Growth hormone deficiency Infections of the developing baby before birth ...

  3. Short stature: psychosocial interventions.

    PubMed

    Sandberg, David E

    2011-01-01

    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 brief overview examines the evidence regarding stature-related experiences and the psychosocial adaptations of children and adolescents with SS. These observations are discussed in the context of common developmental experiences, such as 'teasing,' and the prevalence of behavioral or emotional disturbance in the general population. Guidance is provided for the psychosocial evaluation of children and adolescents with SS who show psychological adjustment difficulties, and recommendations for evidence-based mental health treatments tailored to the presenting problem are offered. PMID:21912157

  4. Genetic Evaluation of Short Stature

    PubMed Central

    Rosenfeld, Ron G.

    2014-01-01

    Context: Genetics plays a major role in determining an individual's height. Although there are many monogenic disorders that lead to perturbations in growth and result in short stature, there is still no consensus as to the role that genetic diagnostics should play in the evaluation of a child with short stature. Evidence Acquisition: A search of PubMed was performed, focusing on the genetic diagnosis of short stature as well as on specific diagnostic subgroups included in this article. Consensus guidelines were reviewed. Evidence Synthesis: There are a multitude of rare genetic causes of severe short stature. There is no high-quality evidence to define the optimal approach to the genetic evaluation of short stature. We review genetic etiologies of a number of diagnostic subgroups and propose an algorithm for genetic testing based on these subgroups. Conclusion: Advances in genomic technologies are revolutionizing the diagnostic approach to short stature. Endocrinologists must become facile with the use of genetic testing in order to identify the various monogenic disorders that present with short stature. PMID:24915122

  5. Syndromic disorders with short stature.

    PubMed

    ??klar, Zeynep; Berbero?lu, Merih

    2014-01-01

    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

  6. Short and tall stature: a new paradigm emerges.

    PubMed

    Baron, Jeffrey; Sävendahl, Lars; De Luca, Francesco; Dauber, Andrew; Phillip, Moshe; Wit, Jan M; Nilsson, Ola

    2015-12-01

    In the past, the growth hormone (GH)-insulin-like growth factor 1 (IGF-1) axis was often considered to be the main system that regulated childhood growth and, therefore, determined short stature and tall stature. However, findings have now revealed that the GH-IGF-1 axis is just one of many regulatory systems that control chondrogenesis in the growth plate, which is the biological process that drives height gain. Consequently, normal growth in children depends not only on GH and IGF-1 but also on multiple hormones, paracrine factors, extracellular matrix molecules and intracellular proteins that regulate the activity of growth plate chondrocytes. Mutations in the genes that encode many of these local proteins cause short stature or tall stature. Similarly, genome-wide association studies have revealed that the normal variation in height seems to be largely due to genes outside the GH-IGF-1 axis that affect growth at the growth plate through a wide variety of mechanisms. These findings point to a new conceptual framework for understanding short and tall stature that is centred not on two particular hormones but rather on the growth plate, which is the structure responsible for height gain. PMID:26437621

  7. [Growth hormone treatment in short stature of unknown origin].

    PubMed

    Wit, J M

    1992-10-01

    Most children with idiopathic short stature can be classified under the diagnoses familial short stature and constitutional delay of growth and adolescence. Administration of growth hormone leads to faster growth, but also faster bone maturation. Daily injections are more efficacious than three injections per week. There is a dose-response relationship. In a Dutch prospective study, the acceleration of growth was only slightly more than bone age advance, so that the average predicted adult height increased only by 3 cm over a period of 4-5 year. In an untreated control group final height was 1 cm lower than predicted. There were great inter-individual differences in terms of growth and bone maturation, which could not be predicted on the basis of clinical and biochemical variables. PMID:1448806

  8. Differences in Dietary Intakes between Normal and Short Stature Korean Children Visiting a Growth Clinic

    PubMed Central

    Lee, Eun Mi; Park, Mi Jung; Ahn, Hong Seok

    2012-01-01

    This study compared birth stature, parents' stature, and food and nutrient intakes between normal and short stature Korean children visiting a growth clinic. A total of 143 growth clinic visitors agreed to participate in the study. Out of the 143 subjects, 37 children with height below the fifth percentile (short stature group) and 58 children with height above the twenty-fifth percentile (normal group) were included in the study analysis. Data were collected through a survey of parents or guardians of children and anthropometric measurements. The ratio of short stature in either parent was significantly higher in short stature group. The mean intakes of protein, fat, calcium, and iron were lower in short stature children compared to normal children. Among five major food groups, the intake frequency of vegetables and fruits was significantly lower in short stature group and that of meat·fish·egg·legume group was also significantly lower in short stature group. In further analysis categorized into 11 detail food groups, the intake frequency of fruit group and legume group was significantly lower in short stature group. Nutritional counseling should be provided to emphasize adequate intake of various food groups including vegetables, fruits, and legumes to short stature children visiting a growth clinic. PMID:23430972

  9. Aromatase Inhibitors in the Treatment of Short Stature.

    PubMed

    Hero, Matti

    2016-01-01

    Reports published in the 1990s of men with estrogen deficiency caused by defective aromatase or estrogen resistance due to a defective estrogen receptor ? confirmed the crucial role of estrogen in bone maturation, closure of the epiphyses and cessation of statural growth. Based on these findings, it became reasonable to postulate that selective inhibition of estrogen synthesis with aromatase inhibitors could increase adult height by delaying bone maturation and prolonging the period of growth in males. To date, aromatase inhibitors have been employed in rare pediatric conditions associated with sex steroid excess, and in randomized controlled trials involving boys with short stature and/or constitutional delay of puberty. Findings from these randomized trials suggest that potent aromatase inhibitors increase predicted height, but final adult height data are scarce. Moreover, several safety issues remain inadequately studied. In this paper, published findings on the use of aromatase inhibitors in growth indications are reviewed with emphasis on treatment efficacy and safety. PMID:26684331

  10. Treatment of children and adolescents with idiopathic short stature.

    PubMed

    Ranke, Michael B

    2013-06-01

    Idiopathic short stature (ISS) is defined as shortness in childhood without a specific cause. ISS may be familial or nonfamilial and may be associated with or without delay of pubertal development. Treatment can be considered in an attempt to reduce the psychological burden caused by short stature in childhood and adult life. If counselling alone is not sufficient, medical modifications of the growth process can be attempted. In cases with pubertal delay, sex steroids, such as testosterone and oxandrolone, can favourably influence height velocity and growth tempo, although adult height is not affected. Medications that prolong the process of growth--for example, gonadotropin-releasing hormone agonists or aromatase inhibitors--might increase adult height, but findings to date are still experimental. Growth hormone therapy is approved for the treatment of very short children with reduced adult height expectation, as evidence has accumulated that this therapy can increase height in childhood and in adult life. Sensitivity to growth hormone is impaired in patients with ISS; therefore, doses higher than a replacement dose have to be applied. This treatment still needs to be optimized in terms of efficacy, cost-effectiveness and long-term safety. A debate is ongoing concerning the psychological benefit of height increase, with clinicians warning against the medicalization of a deviation in height. PMID:23609338

  11. Short stature and pubertal delay in Duchenne muscular dystrophy.

    PubMed

    Wood, Claire L; Straub, Volker; Guglieri, Michela; Bushby, Kate; Cheetham, Tim

    2016-01-01

    Children with Duchenne muscular dystrophy (DMD) are shorter than their healthy peers. The introduction of corticosteroid (CS) has beneficial effects on muscle function but slows growth further and is associated with pubertal delay. In contrast to CS usage in most children and adolescents, weaning glucocorticoid is not a key objective of management in DMD. As the outlook for these young people improves, one of the main challenges is to reduce or offset the detrimental effects of CS on growth and development. This is a review of the aetiology and prevalence of short stature and delayed puberty in DMD, a summary of the treatments available and suggestions for areas of further research. PMID:26141541

  12. 45,X/47,XXX Mosaicism and Short Stature.

    PubMed

    Everest, Erica; Tsilianidis, Laurie A; Haider, Anzar; Rogers, Douglas G; Raissouni, Nouhad; Schweiger, Bahareh

    2015-01-01

    We describe the case of a ten-year-old girl with short stature and 45,X/47,XXX genotype. She also suffered from vesicoureteric reflux and kidney dysfunction prior to having surgery on her ureters. Otherwise, she does not have any of the characteristics of Turner nor Triple X syndrome. It has been shown that this mosaic condition as well as other varieties creates a milder phenotype than typical Turner syndrome, which is what we mostly see in our patient. However, this patient is a special case, because she is exceptionally short. Overall, one cannot predict the resultant phenotype in these mosaic conditions. This creates difficulty in counseling parents whose children or fetuses have these karyotypes. PMID:26137340

  13. 45,X/47,XXX Mosaicism and Short Stature

    PubMed Central

    Everest, Erica; Tsilianidis, Laurie A.; Haider, Anzar; Rogers, Douglas G.; Raissouni, Nouhad; Schweiger, Bahareh

    2015-01-01

    We describe the case of a ten-year-old girl with short stature and 45,X/47,XXX genotype. She also suffered from vesicoureteric reflux and kidney dysfunction prior to having surgery on her ureters. Otherwise, she does not have any of the characteristics of Turner nor Triple X syndrome. It has been shown that this mosaic condition as well as other varieties creates a milder phenotype than typical Turner syndrome, which is what we mostly see in our patient. However, this patient is a special case, because she is exceptionally short. Overall, one cannot predict the resultant phenotype in these mosaic conditions. This creates difficulty in counseling parents whose children or fetuses have these karyotypes. PMID:26137340

  14. Short Stature, Accelerated Bone Maturation, and Early Growth Cessation Due to Heterozygous Aggrecan Mutations

    PubMed Central

    Nilsson, Ola; Guo, Michael H.; Dunbar, Nancy; Popovic, Jadranka; Flynn, Daniel; Jacobsen, Christina; Lui, Julian C.; Hirschhorn, Joel N.; Baron, Jeffrey

    2014-01-01

    Context: Many children with idiopathic short stature have a delayed bone age. Idiopathic short stature with advanced bone age is far less common. Objective: The aim was to identify underlying genetic causes of short stature with advanced bone age. Setting and Design: We used whole-exome sequencing to study three families with autosomal-dominant short stature, advanced bone age, and premature growth cessation. Results: Affected individuals presented with short stature [adult heights ?2.3 to ?4.2 standard deviation scores (SDS)] with histories of early growth cessation or childhood short stature (height SDS ?1.9 to ?3.5 SDS), advancement of bone age, and normal endocrine evaluations. Whole-exome sequencing identified novel heterozygous variants in ACAN, which encodes aggrecan, a proteoglycan in the extracellular matrix of growth plate and other cartilaginous tissues. The variants were present in all affected, but in no unaffected, family members. In Family 1, a novel frameshift mutation in exon 3 (c.272delA) was identified, which is predicted to cause early truncation of the aggrecan protein. In Family 2, a base-pair substitution was found in a highly conserved location within a splice donor site (c.2026+1G>A), which is also likely to alter the amino acid sequence of a large portion of the protein. In Family 3, a missense variant (c.7064T>C) in exon 14 affects a highly conserved residue (L2355P) and is strongly predicted to perturb protein function. Conclusions: Our study demonstrates that heterozygous mutations in ACAN can cause a mild skeletal dysplasia, which presents clinically as short stature with advanced bone age. The accelerating effect on skeletal maturation has not previously been noted in the few prior reports of human ACAN mutations. Our findings thus expand the spectrum of ACAN defects and provide a new molecular genetic etiology for the unusual child who presents with short stature and accelerated skeletal maturation. PMID:24762113

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

    PubMed

    Isidor, Bertrand; David, Albert

    2015-01-01

    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

  16. 12q14 microdeletion syndrome and short stature with or without relative macrocephaly.

    PubMed

    Takenouchi, Toshiki; Enomoto, Keisuke; Nishida, Toshihiko; Torii, Chiharu; Okazaki, Tadaharu; Takahashi, Takao; Kosaki, Kenjiro

    2012-10-01

    Patients with 12q14 microdeletion can present with short stature with or without relative macrocephaly. When associated with relative macrocephaly, the phenotype resembles Silver-Russell syndrome (SRS). Short stature is attributable to haploinsufficiency of HMGA2, but a patient with a deletion at the HMGA2 locus only did not have macrocephaly. Hence, the presence of a separate locus for a relative macrocephaly phenotype was suggested. Herein, we present a girl with a 12q14 microdeletion involving the HMGA2 locus who had short stature but did not have macrocephaly. Inclusion and exclusion mappings based on a quantitative review of the degree of relative macrocephaly and the extent of the deletions in previously reported patients with a 12q14 microdeletion demonstrated a presumptive interval for relative macrocephaly spanning a few megabases. These results confirm that a deletion spanning both HMGA2 and this presumptive interval locus would cause an SRS-like phenotype. PMID:22887875

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

    ERIC Educational Resources Information Center

    Lichota, Malgorzata

    2008-01-01

    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…

  18. Low Growth Hormone Levels in Short-Stature Children with Pituitary Hyperplasia Secondary to Primary Hypothyroidism

    PubMed Central

    Liu, Minghua; Hu, Yanyan; Li, Guimei; Hu, Wenwen

    2015-01-01

    Objective. The follow-up of GH levels in short-stature children with pituitary hyperplasia secondary to primary hypothyroidism (PPH) is reported in a few cases. We aimed to observe changes in GH secretion in short-stature children with PPH. Methods. A total of 11 short-stature children with PPH accompanied by low GH levels were included. They received levothyroxine therapy after diagnosis. Their thyroid hormones, IGF-1, PRL, and pituitary height were measured at baseline and 3 months after therapy. GH stimulation tests were performed at baseline and after regression of thyroid hormones and pituitary. Results. At baseline, they had decreased GH peak and FT3 and FT4 levels and elevated TSH levels. Decreased IGF-1 levels were found in seven children. Elevated PRL levels and positive thyroid antibodies were found in 10 children. The mean pituitary height was 14.3 ± 3.8?mm. After 3 months, FT3, FT4, and IGF-1 levels were significantly increased (all p < 0.01), and values of TSH, PRL, and pituitary height were significantly decreased (all p < 0.001). After 6 months, pituitary hyperplasia completely regressed. GH levels returned to normal in nine children and were still low in two children. Conclusion. GH secretion can be resolved in most short-stature children with PPH. PMID:26421010

  19. Orthodontic treatment for a mandibular prognathic girl of short stature under growth hormone therapy.

    PubMed

    Pan, Chin-Yun; Lan, Ting-Hung; Chou, Szu-Ting; Tseng, Yu-Chuan; Chang, Jenny Zwei-Chieng; Chang, Hong-Po

    2013-12-01

    This report presents a case of a 12-year-old girl with maxillary deficiency, mandibular prognathism, and facial asymmetry, undergoing growth hormone (GH) therapy due to idiopathic short stature. Children of short stature with or without GH deficiency have a deviating craniofacial morphology with overall smaller dimensions; facial retrognathism, especially mandibular retrognathism; and increased facial convexity. However, a complete opposite craniofacial pattern was presented in our case of a skeletal Class III girl with idiopathic short stature. The orthodontic treatment goal was to inhibit or change the direction of mandibular growth and stimulate the maxillary growth of the girl during a course of GH therapy. Maxillary protraction and mandibular retraction were achieved using occipitomental anchorage (OMA) orthopedic appliance in the first stage of treatment. In the second stage, the patient was treated with a fixed orthodontic appliance using a modified multiple-loop edgewise archwire technique of asymmetric mechanics and an active retainer of vertical chin-cup. The treatment led to an acceptable facial profile and obvious facial asymmetry improvement. Class I dental occlusion and coincident dental midline were also achieved. A 3½-year follow-up of the girl at age 18 showed a stable result of the orthodontic and dentofacial orthopedic treatment. Our case shows that the OMA orthopedic appliance of maxillary protraction combined with mandibular retraction is effective for correcting skeletal Class III malocclusion with midface deficiency and mandibular prognathism in growing children with idiopathic short stature undergoing GH therapy. PMID:24331110

  20. Parents' perception about child's height and psychopathology in community children with relatively short stature

    PubMed Central

    Hwang, Jun-Won

    2015-01-01

    Purpose This study investigated the relationship between height and psychopathology in community children with relatively short stature according to the parents' reports. Also, the matter of parental concern about child's height was explored. Methods The child behavior checklist (CBCL), the Brief Encounter Psychosocial Instrument (BEPSI), and the child-health questionnaire-parent form 50 (CHQ-PF50) were administered to 423 parents (from elementary and middle school children's) in Gangnam, South Korea. Subjects were divided into three groups; (1) relatively short (n=30), (2) average stature (n=131), (3) relatively tall (n=153). CBCL, BEPSI, and CHQ-PF50 scores were compared among three groups. Results There were no significant differences in psychosocial burden associated with relatively short stature measured by Korean version of the BEPSI and Korean version of the CBCL scores among three groups. But general health perception score of relatively short was significantly lower than that of nonshort on the CHQ-PF50. Also, they were more used complementary medicines, milk and growth hormone compared to the nonshort. The parents' expected height of their children was 180.6±3.5 cm for boys and 166.7±3.5 cm for girls. This is respectively 90 percentile and 75-90 percentile for the Korean standard adult height. Conclusion Our study shows that in Korea, Parents tended to regard relatively short children as having health problems. Also, the parental expectation for their child's attainable height is unrealistically tall, mostly due to lack of correct medical information. PMID:26191511

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

    PubMed Central

    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

    2014-01-01

    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

  2. New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse.

    PubMed

    Dugan, Sarah L; Temme, Renee T; Olson, Rebecca A; Mikhailov, Anna; Law, Rosalind; Mahmood, Huda; Noor, Abdul; Vincent, John B

    2015-06-01

    Latent TGFB-binding protein 3 (LTBP3) is known to increase bio-availability of TGFB. A homozygous mutation in this gene has previously been associated with oligodontia and short stature in a single family. We report on two sisters with homozygous truncating mutations in LTBP3. In addition to oligodontia and short stature, both sisters have mitral valve prolapse, suggesting a link between truncating LTBP3 mutations and mitral valve disease mediated through the TGFB pathway. PMID:25899461

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

    PubMed Central

    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

    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

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

    PubMed Central

    Noda, Masahiro; Sato, Naoko; Tanaka, Toshiaki

    2015-01-01

    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. PMID:25678754

  5. Height-reducing variants and selection for short stature in Sardinia.

    PubMed

    Zoledziewska, Magdalena; Sidore, Carlo; Chiang, Charleston W K; Sanna, Serena; Mulas, Antonella; Steri, Maristella; Busonero, Fabio; Marcus, Joseph H; Marongiu, Michele; Maschio, Andrea; Del Vecchyo, Diego Ortega; Floris, Matteo; Meloni, Antonella; Delitala, Alessandro; Concas, Maria Pina; Murgia, Federico; Biino, Ginevra; Vaccargiu, Simona; Nagaraja, Ramaiah; Lohmueller, Kirk E; Timpson, Nicholas J; Soranzo, Nicole; Tachmazidou, Ioanna; Dedoussis, George; Zeggini, Eleftheria; Uzzau, Sergio; Jones, Chris; Lyons, Robert; Angius, Andrea; Abecasis, Gonçalo R; Novembre, John; Schlessinger, David; Cucca, Francesco

    2015-11-01

    We report sequencing-based whole-genome association analyses to evaluate the impact of rare and founder variants on stature in 6,307 individuals on the island of Sardinia. We identify two variants with large effects. One variant, which introduces a stop codon in the GHR gene, is relatively frequent in Sardinia (0.87% versus <0.01% elsewhere) and in the homozygous state causes Laron syndrome involving short stature. We find that this variant reduces height in heterozygotes by an average of 4.2 cm (-0.64 s.d.). The other variant, in the imprinted KCNQ1 gene (minor allele frequency (MAF) = 7.7% in Sardinia versus <1% elsewhere) reduces height by an average of 1.83 cm (-0.31 s.d.) when maternally inherited. Additionally, polygenic scores indicate that known height-decreasing alleles are at systematically higher frequencies in Sardinians than would be expected by genetic drift. The findings are consistent with selection for shorter stature in Sardinia and a suggestive human example of the proposed 'island effect' reducing the size of large mammals. PMID:26366551

  6. [Generalized neonatal hypotonia].

    PubMed

    Alfonso, I; Papazian, O; Valencia, P

    Generalized neonatal hypotonia implies a pathologically decreased postural tone involving at least the extremities, trunk and neck occurring during the first month of life. The gestational age of the neonate, the behavioral state of the neonate at the time of the examination, and the possibility of pseudoparalysis (due to generalized pain) should be considered when evaluating a neonate for the possibility of generalized hypotonia. The evaluation of neonates with hypotonia should be guided by the characteristic of the muscular dynamic reflexes, primitive reflexes, the relation between the degree of hypotonia and weakness and findings during several maneuvers (traction, ventral and horizontal suspension, plantar response and response to forward displacement from a lying position). Possible sites of pathology in neonates with hypotonia include: (1) brain, (2) brain stem, (3) cervical spine, (4) cerebellum, (5) lower motor neurons in the brain stem and spine; (6) nerve, (7) myoneural junction, and (8) muscles. PMID:12938055

  7. [Moderated form of Morquio syndrome: an unknown cause of short stature (three case reports)].

    PubMed

    Oulahiane, A; Elhaddad, N; Ouleghzal, H; Gaouzi, A

    2011-09-01

    Morquio disease is a rare genetic disorder characterized by the accumulation of keratan sulfate in tissues. We distinguish two forms according to the deficient enzyme: type A, with a poor prognosis, and type B. Its management is essentially symptomatic. Enzyme replacement therapy and gene therapy are still being evaluated. We report observations of three patients with Morquio disease type A in its moderate form. This article reports the latest facts in both Morquio disease diagnosis and treatment, emphasizing the minor forms usually presented by short stature that should bring out this disorder. PMID:21820286

  8. Short Stature in Chronic Kidney Disease Treated with Growth Hormone and an Aromatase Inhibitor

    PubMed Central

    Mendley, Susan R.; Spyropoulos, Fotios; Counts, Debra R.

    2015-01-01

    We describe an alternative strategy for management of severe growth failure in a 14-year-old child who presented with advanced chronic kidney disease close to puberty. The patient was initially treated with growth hormone for a year until kidney transplantation, followed immediately by a year-long course of an aromatase inhibitor, anastrozole, to prevent epiphyseal fusion and prolong the period of linear growth. Outcome was excellent, with successful transplant and anticipated complete correction of height deficit. This strategy may be appropriate for children with chronic kidney disease and short stature who are in puberty. PMID:26101681

  9. Potential Misclassification of Blood Pressure Status in Children and Adolescents With Short or Tall Stature.

    PubMed

    Parker, Emily D; Sinaiko, Alan R; O'Connor, Patrick J; Ekstrom, Heidi; Appana, Deepika; Amundson, Jerry; Kharbanda, Elyse Olshen

    2016-01-01

    Blood pressure (BP) is measured in percentiles that are adjusted for sex, age, and height percentile in children and adolescents. Standard tables for the conversion of BP percentiles do not present exact BP percentile cutoffs for extremes in stature, either short (<5th percentile) or tall (>95th percentile). An algorithm can be used to calculate exact BP percentiles across a range of height z scores. We compared values from standard BP tables with exact calculations of BP percentiles to see which were better at identifying hypertension in more than 5,000 children with either short or tall stature. Study subjects were 3-17-year-old patients within HealthPartners Medical Group, an integrated health care delivery system in Minnesota, at any time between 2007 and 2012. Approximately half of the subjects who met the criteria for hypertension using exact calculation would be misclassified as normal using available thresholds in the published BP tables instead of the recommended algorithm, which was not included in the tables. PMID:26646294

  10. Growth hormone significantly increases the adult height of children with idiopathic short stature: comparison of subgroups and benefit

    PubMed Central

    2014-01-01

    Background Children with Idiopathic Short Stature do not attain a normal adult height. The improvement of adult height with treatment with recombinant human growth hormone (rhGH), at doses of 0.16 to 0.28 mg/kg/week is modest, usually less that 4 cm, and they remain short as adults. The benefit obtained seems dose dependent and benefits of 7.0 to 8.0 cm have been reported with higher doses of 0.32 to 0.4 mg/kg/week, but the number of studies is limited. The topic has remained controversial. Objective The objective was to conduct a retrospective analysis of our experience with 123 children with ISS treated with 0.32?±?0.03 mg/kg/week of rhGH, with the aim of comparing the different subgroups of non-familial short stature, familial short stature, normal puberty, and delayed puberty and to assess the benefit by comparison with 305 untreated historical controls, from nine different randomized and nonrandomized controlled studies. Results Eighty eight of our children (68 males and 20 females) attained an adult height or near adult height of -0.71 SDS (0.74 SD) (95% CI, -0.87 to -0.55) with a benefit over untreated controls of 9.5 cm (7.4 to 11.6 cm) for males and 8.6 cm (6.7 to 10.5 cm) for females. In the analysis of the subgroups, the adult height and adult height gain of children with non-familial short stature were significantly higher than of familial short stature. No difference was found in the cohorts with normal or delayed puberty in any of the subgroups, except between the non-familial short stature and familial short stature puberty cohorts. This has implications for the interpretation of the benefit of treatment in studies where the number of children with familial short stature in the controls or treated subjects is not known. The treatment was safe. There were no significant adverse events. The IGF-1 values were essentially within the levels expected for the stages of puberty. Conclusion Our experience was quite positive with normalization of the heights and growth of the children during childhood and the attainment of normal adult heights, the main two aims of treatment. PMID:25075207

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

    PubMed Central

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

    2013-01-01

    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

  12. Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature

    PubMed Central

    Pantel, Jacques; Legendre, Marie; Cabrol, Sylvie; Hilal, Latifa; Hajaji, Yassir; Morisset, Séverine; Nivot, Sylvie; Vie-Luton, Marie-Pierre; Grouselle, Dominique; de Kerdanet, Marc; Kadiri, Abdelkrim; Epelbaum, Jacques; Le Bouc, Yves; Amselem, Serge

    2006-01-01

    The growth hormone (GH) secretagogue receptor (GHSR) was cloned as the target of a family of synthetic molecules endowed with GH release properties. As shown recently through in vitro means, this receptor displays a constitutive activity whose clinical relevance is unknown. Although pharmacological studies have demonstrated that its endogenous ligand — ghrelin — stimulates, through the GHSR, GH secretion and appetite, the physiological importance of the GHSR-dependent pathways remains an open question that gives rise to much controversy. We report the identification of a GHSR missense mutation that segregates with short stature within 2 unrelated families. This mutation, which results in decreased cell-surface expression of the receptor, selectively impairs the constitutive activity of the GHSR, while preserving its ability to respond to ghrelin. This first description, to our knowledge, of a functionally significant GHSR mutation, which unveils the critical importance of the GHSR-associated constitutive activity, discloses an unusual pathogenic mechanism of growth failure in humans. PMID:16511605

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

    PubMed Central

    Savage, Martin O.; Bang, Peter

    2012-01-01

    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

  14. Growth Hormone Responses to Provocative Tests in Children with Short Stature

    PubMed Central

    Rhee, Noorisaem; Oh, Ka Young; Yang, Eun Mi

    2015-01-01

    Growth hormone deficiency (GHD) is defined as a serum peak GH concentration <10 ng/mL with provocation as tested by a combination of at least two separate tests. The aim of this study was to compare two standard tests, insulin and levodopa (L-dopa), with a primary focus on specificity and accuracy. Clinical data were collected retrospectively from a review of 120 children who visited the pediatric endocrine clinic at Chonnam National University Hospital for the evaluation of short stature between January 2006 and April 2014. Subjects underwent GH provocation tests with insulin and L-dopa. Blood samples were obtained at 0, 15, 30, 45, 60, 90, and 120 min after administration, and GH levels were measured. In the insulin test, serial glucose levels were also checked, closely monitoring hypoglycemia. A total of 83 children (69.2%) were diagnosed with GHD and 37 children (30.8%) were diagnosed with idiopathic short stature (ISS). Peak GH levels were achieved an average of 45 min after the administration of insulin and L-dopa for both groups. The specificity and accuracy were 78.4% and 93.6% for the insulin test and 29.7% and 79.2% for L-dopa test, respectively. In the ISS group, the cumulative frequency of a GH cutoff value of >10 ng/mL at 120 min was 75.6% after insulin stimulation compared with 35.1% after L-dopa stimulation. Considering these results, we recommend performing the insulin test first to exclude ISS and then the L-dopa test for the diagnosis of GHD. This way, ISS patients are diagnosed after a single test, thus reducing hospital days and the burden of undergoing two serial tests. PMID:25914878

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

    PubMed

    Germain-Lee, Emily L

    2006-04-01

    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

  16. Severe scoliosis, torticollis and short stature in a woman with Wildervanck Syndrome (WS).

    PubMed

    Laban, N B; Tasic, V B; Danilovski, D; Polenakovic, M; Gucev, Z S

    2015-01-01

    (Full text is available at http://www.manu.edu.mk/prilozi). Wildervanck syndrome (WS) combines features of Klippel-Feil syndrome (KFS), sixth nerve palsy, and deafness. This is a case of a 23 year old woman, diagnosed with KFS (a triad of short neck, low posterior hairline and restricted neck movements) at the age of 20 days. The manifestations of the WS in this patient are severe: she has torticollis, and an extremely severe scoliosis. In addition, she is short (-3 SD; parental target height + 0.8SD) and has mixed sensorineural and conductive deafness. She also has ptosis, strabismus and a high myopia. Radiologically, there are multiple coalitions of cervical vertebrae. Intelligence is unaffected (IQ 95), but deafness, strabismus and high myopia forced her early out of school. Karyotype is 46, XX. In brief, this is a patient with severe WS and additional anomalies. Short and/or reduced parental target height is a part of WS. Key words: Wildervanck syndrome, short stature, Duane retraction syndrome, Klippel Feil anomaly, deafness, torticollis, severe scoliosis. PMID:26076792

  17. Lactose Intolerance: Lack of Evidence for Short Stature or Vitamin D Deficiency in Prepubertal Children

    PubMed Central

    Setty-Shah, Nithya; Maranda, Louise; Candela, Ninfa; Fong, Jay; Dahod, Idris; Rogol, Alan D.; Nwosu, Benjamin Udoka

    2013-01-01

    ABSTRACT Background The health consequences of lactose intolerance (LI) are unclear. Aims To investigate the effects of LI on stature and vitamin D status. Hypotheses LI subjects will have similar heights and vitamin D status as controls. Subjects and Methods Prepubertal children of ages 3-12 years with LI (n=38, age 8.61 ± 3.08y, male/female 19/19) were compared to healthy, age- and gender-matched controls (n=49, age 7.95±2.64, male/female 28/21). Inclusion criteria: prepubertal status (boys: testicular volume <3cc; girls: Tanner 1 breasts), diagnosis of LI by hydrogen breath test, and no history of calcium or vitamin D supplementation. Vitamin D deficiency was defined as 25-hydroxyvitamin D [25(OH)D] <50 nmol/L. Gender-adjusted midparental target height (MPTH) z-score was calculated using NCHS data for 18 year-old adults. Data were expressed as mean ± SD. Results There was no significant difference in 25(OH)D between the LI and non-LI subjects (60.1±21.1, vs. 65.4 ± 26.1 nmol/L, p = 0.29). Upon stratification into normal weight (BMI <85th percentile) vs. overweight/obese (BMI ?85th percentile), the normal weight controls had significantly higher 25(OH)D level than both the normal weight LI children (78.3 ± 32.6 vs. 62.9 ± 23.2, p = 0.025), and the overweight/obese LI children (78.3±32.6 vs. 55.3±16.5, p = 0.004). Secondly, there was no overall difference in height z-score between the LI children and controls. The normal weight LI patients had similar height as normal controls (-0.46 ± 0.89 vs. -0.71 ± 1.67, p = 0.53), while the overweight/obese LI group was taller than the normal weight controls (0.36 ± 1.41 vs. -0.71 ± 1.67, p = 0.049), and of similar height as the overweight/obese controls (0.36 ± 1.41 vs. 0.87 ± 1.45, p = 0.28). MPTH z-score was similar between the groups. Conclusion Short stature and vitamin D deficiency are not features of LI in prepubertal children. PMID:24205288

  18. Massive pericardial effusion and short stature caused by autoimmune hypothyroidism in a 9-year-old girl

    PubMed Central

    Gyon, Yun Hee

    2015-01-01

    A 9-year-, 11-month-old girl was brought to the Emergency Department for sudden dyspnea caused by massive pericardial effusion. In addition to relative bradycardia despite impending cardiac tamponade, short stature, overweight, and hypercholesterolemia were clues for suspected hypothyroidism. During thyroxine supplementation, catch-up growth was incomplete by rapid skeletal maturation. The use of short-term growth hormone showed increased growth velocity. In conclusion, primary hypothyroidism should be included in the etiologic evaluation of pericardial effusion, especially when it is associated with relative bradycardia. Additional growth promoting therapy should be considered for incomplete catch-up growth in prolonged hypothyroidism during thyroxine supplementation. PMID:26191514

  19. The short die young: the interrelationship between stature and longevity-evidence from skeletal remains.

    PubMed

    Kemkes-Grottenthaler, Ariane

    2005-10-01

    It has long been observed that tall people display longer life spans. The current data were employed to verify this association within the bioarchaeological context. To this end, stature and its association with age-at-death were analyzed in a pooled sample of 2,923 skeletons. Height was estimated from proxy indicators based on the maximum length of the humerus, radius, femur, and tibia. Stature estimation followed the procedure outlined by Pearson ([1899] Philos. Trans. R. Soc. Lond. [A] 192:169-244), incorporating minor modifications by Rösing ([ 1988] Handbuch der vergleichenden Biologie des Menschen; Stuttgart: Gustave Fischer, p 586-600). Individual age estimates were classified into three mutually exclusive age groups: 20-39 years (591 males, 667 females), 40-59 years (876 males, 499 females), and 60+ years (171 males, 119 females). The results document that both sexes display a statistically significant inverse relationship between adult height and age-at-death (males, P < 0.01; females, P < 0.05). Taking an epidemiological approach, the risk model implies that the estimated odds of survival beyond age 40 improve by approximately 16% for 1 SD in bone length. However, not all bones may be equally adept at displaying the association. The radius failed to support the positive association between stature and longevity, which may be indicative of a relatively greater contribution of environmental factor to radius length. Overall, the relationship between body height and longevity is not causal but coincidental: mitigated by diverse environmental factors such as nutrition, socioeconomic stressors, and disease load. PMID:15861421

  20. Phenotypic variations of cartilage hair hypoplasia: granulomatous skin inflammation and severe T cell immunodeficiency as initial clinical presentation in otherwise well child with short stature.

    PubMed

    McCann, Liza J; McPartland, Jo; Barge, Dawn; Strain, Lisa; Bourn, David; Calonje, Eduardo; Verbov, Julian; Riordan, Andrew; Kokai, George; Bacon, Chris M; Wright, Michael; Abinun, Mario

    2014-01-01

    We report a child with short stature since birth who was otherwise well, presenting at 2.8 years with progressive granulomatous skin lesions when diagnosed with severe T cell immunodeficiency. When previously investigated for short stature, and at the time of current investigations, she had no radiological skeletal features characteristics for cartilage hair hypoplasia, but we found a disease causing RMRP (RNase mitochondrial RNA processing endoribonuclease) gene mutation. Whilst search for HLA matched unrelated donor for haematopoietic stem cell transplantation (HSCT) was underway, she developed rapidly progressive EBV-related lymphoproliferative disorder requiring laparotomy and small bowel resection, and was treated with anti-B cell monoclonal antibody and eventually curative allogeneic HSCT. Screening for RMRP gene mutations should be part of immunological evaluation of patients with 'severe and/or combined' T cell immunodeficiency of unknown origin, especially when associated with short stature and regardless of presence or absence of radiological skeletal features. PMID:24217815

  1. Low-dose growth hormone treatment (0.175 mg/kg/week) for short stature in patients with Turner Syndrome: data from KIGS Japan.

    PubMed

    Ito, Yoshiya; Fujieda, Kenji; Tanaka, Toshiaki; Takano, Kazue; Chihara, Kazuo; Seino, Yoshiki; Irie, Minoru

    2006-10-01

    Turner syndrome is a common sex chromosome anomaly. Human growth hormone (hGH) is effective for treating short stature, which is a major characteristic of the disease. In this report, we analyzed the results of low-dose GH treatment for short stature in 212 Turner syndrome patients with growth hormone deficiency. These patients were enrolled in KIGS Japan. After 5 years of treatment, change in height was more than the mean growth curve in many patients, and the standard deviation (SD) for stature improved by +1.22 SDS. As the treatment progressed, the weight-for-height index (WHI) decreased in patients aged 8.1 years or older but not more than 14.8 years at the commencement of the treatment. PMID:16946566

  2. Congenital hypotonia: clinical and developmental assessment.

    PubMed

    Harris, Susan R

    2008-12-01

    Identifying the underlying cause of congenital hypotonia remains difficult, despite advances in diagnostic laboratory and imaging techniques. Clinical evaluation strategies and standardized developmental tests can assist in differentiating hypotonia resulting from primary involvement of the upper motoneuron (central hypotonia) versus that involving the lower motoneuron and motor unit (peripheral hypotonia). This is especially important in infants with idiopathic hypotonia. This review outlines and describes the components of the clinical assessment: detailed infant and family history, clinical techniques and characteristics for differentiating hypotonia of central versus peripheral origin, and clinical evaluation (muscle tone, primitive reflexes, deep tendon reflexes, etc). Recent research that has contributed to the differential diagnosis of congenital hypotonia is reviewed and directions for future research are provided. Ideally, the assessment of infants with congenital hypotonia is best accomplished by an interdisciplinary team of developmental specialists including pediatricians, medical geneticists, child neurologists, and physical or occupational therapists. PMID:19046184

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

    PubMed Central

    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

    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

  4. A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly.

    PubMed

    Abdulkarim, Baroj; Nicolino, Marc; Igoillo-Esteve, Mariana; Daures, Mathilde; Romero, Sophie; Philippi, Anne; Senée, Valérie; Lopes, Miguel; Cunha, Daniel A; Harding, Heather P; Derbois, Céline; Bendelac, Nathalie; Hattersley, Andrew T; Eizirik, Décio L; Ron, David; Cnop, Miriam; Julier, Cécile

    2015-11-01

    Dysregulated endoplasmic reticulum stress and phosphorylation of eukaryotic translation initiation factor 2? (eIF2?) are associated with pancreatic ?-cell failure and diabetes. Here, we report the first homozygous mutation in the PPP1R15B gene (also known as constitutive repressor of eIF2? phosphorylation [CReP]) encoding the regulatory subunit of an eIF2?-specific phosphatase in two siblings affected by a novel syndrome of diabetes of youth with short stature, intellectual disability, and microcephaly. The R658C mutation in PPP1R15B affects a conserved amino acid within the domain important for protein phosphatase 1 (PP1) binding. The R658C mutation decreases PP1 binding and eIF2? dephosphorylation and results in ?-cell apoptosis. Our findings support the concept that dysregulated eIF2? phosphorylation, whether decreased by mutation of the kinase (EIF2AK3) in Wolcott-Rallison syndrome or increased by mutation of the phosphatase (PPP1R15B), is deleterious to ?-cells and other secretory tissues, resulting in diabetes associated with multisystem abnormalities. PMID:26159176

  5. Growth hormone (GH) determinations by RIA and IFA during GH stimulation tests in children with short stature.

    PubMed

    Kvaratskhelia, E; Metreveli, D; Koplatadze, K; Virsaladze, D; Willig, R

    2006-11-01

    Growth hormone deficiency (GHD) as a syndrome comprises multiple pathogenetically distinct entities caused by disorders of secretion or peripherial action of growth hormone (GH). Confirmation of the diagnosis of GH deficiency in children is based on provocative testing for human growth hormone (hGH). Immunofunctional assay (IFA) allows quantitation of only biological active GH forms in circulation. The aim of this study was to compare the results of GH determinations by radioimmunoassay (RIA) and IFA, and to establish cut-off-levels for IFA in insulin tolerance test (ITT). We have investigated 32 children (30 males and 2 females) with short stature. All patients underwent insulin tolerance test (ITT), GH was measured in duplicate by radioimmunoassay (RIA, Seria) and IFA (DSL). Children with peak GH concentration below 10 ng/ml in ITT (by RIA) underwent arginin tolerance test (ATT, arginin 0,5 g/kg). The correlation between the results of growth hormone determination by radioimmunoassay and immunofunctional assay was excellent and cut-off-level in stimulatory test was established for the immunofunctional assay. PMID:17179589

  6. Zip1, Zip2, and Zip8 mRNA expressions were associated with growth hormone level during the growth hormone provocation test in children with short stature.

    PubMed

    Sun, Ping; Wang, Shifu; Jiang, Yali; Tao, Yanting; Tian, Yuanyuan; Zhu, Kai; Wan, Haiyan; Zhang, Lehai; Zhang, Lianying

    2013-10-01

    Short stature of children is affected by multiple factors. One of them is growth hormone (GH) deficiency. Growth hormone therapy can increase the final height of children with growth hormone deficiency. Zinc is found to induce dimerization and to enhance the bioactivity of human GH. Two gene families have been identified involved in zinc homeostasis. Previous studies in our laboratory have shown that Zip1, Zip2, Zip6, and ZnT1 mRNA were associated with zinc level in established human breast cancer in nude mice model; Zip8 was significantly lower in zinc-deficient Wistar rats in kidney. In this study, five zinc transporters: Zip1, Zip2, Zip6, Zip8, and ZnT1 were chosen. We aimed to investigate the mRNA expression of zinc transporters and to explore the relationship between zinc transporters and growth hormone in short stature children. Growth hormone provocation test is used to confirm the diagnosis of growth hormone deficiency. Six short children for the test were enrolled. At the same time, 15 sex- and age-matched normal children were enrolled as control. The expression levels of zinc transporters in peripheral blood mononuclear cells were determined by quantitative real-time PCR. Zip1 and Zip2 mRNA expression positively correlated with growth hormone level (r = 0.5133, P = 0.0371; r = 0.6719, P = 0.0032); Zip8 mRNA expression negatively correlated with growth hormone level (r = -0.5264, P = 0.0285) during the test in short stature children. The average expression level of Zip2 was significantly higher and Zip6, Zip8 mRNA levels were significantly lower in short stature children than in health controls at 0 min (P < 0.05, P < 0.05). PMID:23921484

  7. Severely Incapacitating Mutations in Patients with Extreme Short Stature Identify RNA-Processing Endoribonuclease RMRP as an Essential Cell Growth Regulator

    PubMed Central

    Thiel, Christian T. ; Horn, Denise ; Zabel, Bernhard ; Ekici, Arif B. ; Salinas, Kelly ; Gebhart, Erich ; Rüschendorf, Franz ; Sticht, Heinrich ; Spranger, Jürgen ; Müller, Dietmar ; Zweier, Christiane ; Schmitt, Mark E. ; Reis, André ; Rauch, Anita 

    2005-01-01

    The growth of an individual is deeply influenced by the regulation of cell growth and division, both of which also contribute to a wide variety of pathological conditions, including cancer, diabetes, and inflammation. To identify a major regulator of human growth, we performed positional cloning in an autosomal recessive type of profound short stature, anauxetic dysplasia. Homozygosity mapping led to the identification of novel mutations in the RMRP gene, which was previously known to cause two milder types of short stature with susceptibility to cancer, cartilage hair hypoplasia, and metaphyseal dysplasia without hypotrichosis. We show that different RMRP gene mutations lead to decreased cell growth by impairing ribosomal assembly and by altering cyclin-dependent cell cycle regulation. Clinical heterogeneity is explained by a correlation between the level and type of functional impairment in vitro and the severity of short stature or predisposition to cancer. Whereas the cartilage hair hypoplasia founder mutation affects both pathways intermediately, anauxetic dysplasia mutations do not affect B-cyclin messenger RNA (mRNA) levels but do severely incapacitate ribosomal assembly via defective endonucleolytic cleavage. Anauxetic dysplasia mutations thus lead to poor processing of ribosomal RNA while allowing normal mRNA processing and, therefore, genetically separate the different functions of RNase MRP. PMID:16252239

  8. Hypotonia

    MedlinePLUS

    ... can be seen in Down syndrome, muscular dystrophy, cerebral palsy, Prader-Willi syndrome, myotonic dystrophy, and Tay-Sachs ... or the NIH is appreciated. Last Modified October 14, 2014 National Institute of Neurological Disorders and Stroke ...

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

    SciTech Connect

    Al-Attia, H.M.; Sedaghatian, M.R.

    1995-03-13

    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.

  10. Autism, mental retardation, multiple exostoses and short stature in a female with 46,X,t(X;8)(p22.13;q22.1).

    PubMed

    Bolton, P; Powell, J; Rutter, M; Buckle, V; Yates, J R; Ishikawa-Brush, Y; Monaco, A P

    1995-01-01

    A young adult female with multiple exostoses, short stature, autism, mental retardation and 46,X,t(X;8)(p22.13;q22.1) is described. Although the clinical features and translocation breakpoints raise the possibility of a number of specific conditions, the constellation of problems is not consistent with any previously reported genetic syndrome. It is argued that her clinical disorder is likely due to the chromosomal abnormality and that further detailed molecular genetic investigation may shed light on the genetic basis to various components of her phenotype including the autism. PMID:7551962

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

    PubMed Central

    2014-01-01

    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

  12. Early anthropometric indices predict short stature and overweight status in a cohort of Peruvians in early adolescence

    PubMed Central

    Sterling, Robie; Miranda, J Jaime; Gilman, Robert H; Cabrera, Lilia; Sterling, Charles R; Bern, Caryn; Checkley, William

    2014-01-01

    While childhood malnutrition is associated with increased morbidity and mortality, less well understood is how early childhood growth influences height and body composition later in life. We revisited 152 Peruvian children who participated in a birth cohort study between 1995 and 1998, and obtained anthropometric and bioimpedance measurements 11 to 14 years later. We used multivariable regression models to study the effects of childhood anthropometric indices on height and body composition in early adolescence. Each standard deviation decrease in length-for-age at birth was associated with a decrease in adolescent height-for-age of 0.7 SD in both boys and girls (all p<0.001) and 9.7 greater odds of stunting (95% CI 3.3 to 28.6). Each SD decrease in length-for-age in the first 30 months of life was associated with a decrease in adolescent height-for-age of 0.4 in boys and 0.6 standard deviation in girls (all p<0.001) and with 5.8 greater odds of stunting (95% CI 2.6 to 13.5). The effect of weight gain during early childhood on weight in early adolescence was more complex to understand. Weight-for-length at birth and rate of change in weight-for-length in early childhood were positively associated with age- and sex-adjusted body mass index and a greater risk of being overweight in early adolescence. Linear growth retardation in early childhood is a strong determinant of adolescent stature, indicating that, in developing countries, growth failure in height during early childhood persists through early adolescence. Interventions addressing linear growth retardation in childhood are likely to improve adolescent stature and related-health outcomes in adulthood. PMID:22552904

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

    PubMed

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

    2014-06-01

    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

  14. Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

    PubMed Central

    Abou Jamra, Rami; Philippe, Orianne; Raas-Rothschild, Annick; Eck, Sebastian H.; Graf, Elisabeth; Buchert, Rebecca; Borck, Guntram; Ekici, Arif; Brockschmidt, Felix F.; Nöthen, Markus M.; Munnich, Arnold; Strom, Tim M.; Reis, Andre; Colleaux, Laurence

    2011-01-01

    Intellectual disability inherited in an autosomal-recessive fashion represents an important fraction of severe cognitive-dysfunction disorders. Yet, the extreme heterogeneity of these conditions markedly hampers gene identification. Here, we report on eight affected individuals who were from three consanguineous families and presented with severe intellectual disability, absent speech, shy character, stereotypic laughter, muscular hypotonia that progressed to spastic paraplegia, microcephaly, foot deformity, decreased muscle mass of the lower limbs, inability to walk, and growth retardation. Using a combination of autozygosity mapping and either Sanger sequencing of candidate genes or next-generation exome sequencing, we identified one mutation in each of three genes encoding adaptor protein complex 4 (AP4) subunits: a nonsense mutation in AP4S1 (NM_007077.3: c.124C>T, p.Arg42?), a frameshift mutation in AP4B1 (NM_006594.2: c.487_488insTAT, p.Glu163_Ser739delinsVal), and a splice mutation in AP4E1 (NM_007347.3: c.542+1_542+4delGTAA, r.421_542del, p.Glu181Glyfs?20). Adaptor protein complexes (AP1-4) are ubiquitously expressed, evolutionarily conserved heterotetrameric complexes that mediate different types of vesicle formation and the selection of cargo molecules for inclusion into these vesicles. Interestingly, two mutations affecting AP4M1 and AP4E1 have recently been found to cause cerebral palsy associated with severe intellectual disability. Combined with previous observations, these results support the hypothesis that AP4-complex-mediated trafficking plays a crucial role in brain development and functioning and demonstrate the existence of a clinically recognizable syndrome due to deficiency of the AP4 complex. PMID:21620353

  15. Investigation and management of tall stature.

    PubMed

    Davies, Justin H; Cheetham, Tim

    2014-08-01

    Referral for an assessment of tall stature is much less common than for short stature. Although the commonest cause is an underlying familial tendency to tallness, there are important disorders that should be considered at the initial assessment. Distinguishing these conditions from normal variations of growth is the key objective when managing the child and family. In some children, further targeted investigations will be needed and in rare instances intervention to limit final height may be appropriate. This article discusses a structured approach to the assessment and management of a child with tall stature. PMID:24833789

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

    SciTech Connect

    Spotila, L.D.; Sereda, L.; Prockop, D.J. )

    1992-12-01

    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.

  17. High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

    PubMed

    Rojnueangnit, Kitiwan; Xie, Jing; Gomes, Alicia; Sharp, Angela; Callens, Tom; Chen, Yunjia; Liu, Ying; Cochran, Meagan; Abbott, Mary-Alice; Atkin, Joan; Babovic-Vuksanovic, Dusica; Barnett, Christopher P; Crenshaw, Melissa; Bartholomew, Dennis W; Basel, Lina; Bellus, Gary; Ben-Shachar, Shay; Bialer, Martin G; Bick, David; Blumberg, Bruce; Cortes, Fanny; David, Karen L; Destree, Anne; Duat-Rodriguez, Anna; Earl, Dawn; Escobar, Luis; Eswara, Marthanda; Ezquieta, Begona; Frayling, Ian M; Frydman, Moshe; Gardner, Kathy; Gripp, Karen W; Hernández-Chico, Concepcion; Heyrman, Kurt; Ibrahim, Jennifer; Janssens, Sandra; Keena, Beth A; Llano-Rivas, Isabel; Leppig, Kathy; McDonald, Marie; Misra, Vinod K; Mulbury, Jennifer; Narayanan, Vinodh; Orenstein, Naama; Galvin-Parton, Patricia; Pedro, Helio; Pivnick, Eniko K; Powell, Cynthia M; Randolph, Linda; Raskin, Salmo; Rosell, Jordi; Rubin, Karol; Seashore, Margretta; Schaaf, Christian P; Scheuerle, Angela; Schultz, Meredith; Schorry, Elizabeth; Schnur, Rhonda; Siqveland, Elizabeth; Tkachuk, Amanda; Tonsgard, James; Upadhyaya, Meena; Verma, Ishwar C; Wallace, Stephanie; Williams, Charles; Zackai, Elaine; Zonana, Jonathan; Lazaro, Conxi; Claes, Kathleen; Korf, Bruce; Martin, Yolanda; Legius, Eric; Messiaen, Ludwine

    2015-11-01

    Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders, affecting 1:3,000 worldwide. Identification of genotype-phenotype correlations is challenging because of the wide range clinical variability, the progressive nature of the disorder, and extreme diversity of the mutational spectrum. We report 136 individuals with a distinct phenotype carrying one of five different NF1 missense mutations affecting p.Arg1809. Patients presented with multiple café-au-lait macules (CALM) with or without freckling and Lisch nodules, but no externally visible plexiform neurofibromas or clear cutaneous neurofibromas were found. About 25% of the individuals had Noonan-like features. Pulmonic stenosis and short stature were significantly more prevalent compared with classic cohorts (P < 0.0001). Developmental delays and/or learning disabilities were reported in over 50% of patients. Melanocytes cultured from a CALM in a segmental NF1-patient showed two different somatic NF1 mutations, p.Arg1809Cys and a multi-exon deletion, providing genetic evidence that p.Arg1809Cys is a loss-of-function mutation in the melanocytes and causes a pigmentary phenotype. Constitutional missense mutations at p.Arg1809 affect 1.23% of unrelated NF1 probands in the UAB cohort, therefore this specific NF1 genotype-phenotype correlation will affect counseling and management of a significant number of patients. PMID:26178382

  18. Relationship between vitamin D receptor (VDR) polymorphisms and the efficacy of recombinant human growth hormone (rhGH) treatment in children with idiopathic short stature.

    PubMed

    Wang, W; Luo, X P; Cai, L X; Cui, Z R; Luo, X Y; Luo, R K

    2015-01-01

    Polymorphisms in the vitamin D receptor (VDR) gene are associated with idiopathic short stature (ISS) in several countries. This study aimed to identify a possible correlation between polymorphisms in the VDR promoter in Chinese children with ISS and the efficacy of the recombinant human growth hormone (rhGH) treatment. Pre-pubertal children with ISS and healthy age- and gender-matched children (N = 95 each) were enrolled in this study. Two single nucleotide polymorphisms (SNPs) in the VDR promoter (rs11568820 at the Cdx-2-binding site upstream of exon 1e and rs4516035 at -1012 upstream of exon 1a) were typed. The growth velocity, standard deviation score (SDS) of height for chronological age, height SDS for bone age, predicted adult height, and serum insulin-like growth factor 1 (IGF-1) and IGF-binding protein 3 (IGFBP-3) levels of the ISS patients were determined before and 6 months after rhGH treatment. No significant differences were observed in the genotype frequencies between the ISS cases and controls. After rhGH treatment, the growth velocity of the A/G genotype at the Cdx-2-binding site SNP locus was significantly higher than that of the G/G genotype; the IGF-1 and IGFBP-3 levels were also higher in the treated group than the untreated group. However, these changes were independent of the VDR-promoter genotype. Polymorphisms in the VDR promoter may not result in the pathogenesis of ISS in Chinese children. The A/G genotype showed a significantly higher growth velocity than the G/G genotype, and may represent a short-term marker of growth potential. PMID:26400282

  19. Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability.

    PubMed

    Kernohan, Kristin D; Tétreault, Martine; Liwak-Muir, Urszula; Geraghty, Michael T; Qin, Wen; Venkateswaran, Sunita; Davila, Jorge; Holcik, Martin; Majewski, Jacek; Richer, Julie; Boycott, Kym M

    2015-11-15

    Protein translation is an essential cellular process initiated by the association of a methionyl-tRNA with the translation initiation factor eIF2. The Met-tRNA/eIF2 complex then associates with the small ribosomal subunit, other translation factors and mRNA, which together comprise the translational initiation complex. This process is regulated by the phosphorylation status of the ? subunit of eIF2 (eIF2?); phosphorylated eIF2? attenuates protein translation. Here, we report a consanguineous family with severe microcephaly, short stature, hypoplastic brainstem and cord, delayed myelination and intellectual disability in two siblings. Whole-exome sequencing identified a homozygous missense mutation, c.1972G>A; p.Arg658Cys, in protein phosphatase 1, regulatory subunit 15b (PPP1R15B), a protein which functions with the PPP1C phosphatase to maintain dephosphorylated eIF2? in unstressed cells. The p.R658C PPP1R15B mutation is located within the PPP1C binding site. We show that patient cells have greatly diminished levels of PPP1R15B-PPP1C interaction, which results in increased eIF2? phosphorylation and resistance to cellular stress. Finally, we find that patient cells have elevated levels of PPP1R15B mRNA and protein, suggesting activation of a compensatory program aimed at restoring cellular homeostasis which is ineffective due to PPP1R15B alteration. PPP1R15B now joins the expanding list of translation-associated proteins which when mutated cause rare genetic diseases. PMID:26307080

  20. A Novel Variant in CDKN1C Is Associated With Intrauterine Growth Restriction, Short Stature, and Early-Adulthood-Onset Diabetes

    PubMed Central

    Kerns, Sarah L.; Andrew, Shayne; Geng, Juan; Guevara, Carolina; Guevara-Aguirre, Marco; Guo, Michael; Oddoux, Carole; Shen, Yiping; Zurita, Andres; Rosenfeld, Ron G.; Ostrer, Harry; Hwa, Vivian

    2014-01-01

    Context: CDKN1C, a cyclin-dependent kinase inhibitor and negative regulator of cellular proliferation, is paternally imprinted and has been shown to regulate ?-cell proliferation. CDKN1C mutations are associated with growth disorders, including Beckwith-Wiedemann syndrome and IMAGe syndrome. Objective: To investigate the genetic basis for a familial disorder characterized by intrauterine growth restriction, short stature, and early-adulthood-onset diabetes. Design, Setting, and Participants: Genomic DNA samples (15 affected and 26 unaffected from a six-generation pedigree) were analyzed by genome-wide single nucleotide polymorphism arrays, whole exome and Sanger sequencing, and multiplex ligation-dependent probe amplification. Main Outcome Measure(s): Subjects were assessed for height, weight, adrenal gland size, ACTH, diabetes status, and testis volume. Linkage and sequence analyses were performed, and the identified genetic variant was functionally evaluated in reconstitution studies. Results: The pedigree followed a paternally imprinted pattern of inheritance, and genetic linkage analysis identified a single significant 2.6-megabase locus on chromosome 11p15, within the imprinting center region 2. Multiplex ligation-dependent probe amplification did not detect copy number variants or methylation abnormalities. Whole exome sequencing revealed a single novel variant in the proliferating cell nuclear antigen-binding region of CDKN1C (c.842G>T, p.R281I) that co-segregated with affected status and, unlike variants found in IMAGe, did not entirely abrogate proliferating cell nuclear antigen binding. Clinical assessments revealed that affected individuals had low testicular volume but normal adrenal function. Conclusions: We report a novel CDKN1C mutation associated with features of IMAGe syndrome, but without adrenal insufficiency or metaphyseal dysplasia, and characterized by early-adulthood-onset diabetes. Our data expand the range of phenotypes observed with CDKN1C defects and suggest that CDKN1C mutations may represent a novel monogenic form of diabetes. PMID:25057881

  1. Overexpression of Indian hedgehog partially rescues short stature homeobox 2-overexpression-associated congenital dysplasia of the temporomandibular joint in mice

    PubMed Central

    LI, XIHAI; LIANG, WENNA; YE, HONGZHI; WENG, XIAPING; LIU, FAYUAN; LIN, PINGDONG; LIU, XIANXIANG

    2015-01-01

    The role of short stature homeobox 2 (shox2) in the development and homeostasis of the temporomandibular joint (TMJ) has been well documented. Shox2 is known to be expressed in the progenitor cells and perichondrium of the developing condyle. A previous study by our group reported that overexpression of shox2 leads to congenital dysplasia of the TMJ via downregulation of the Indian hedgehog (Ihh) signaling pathway, which is essential for embryonic disc primordium formation and mandibular condylar growth. To determine whether overexpression of Ihh may rescue the overexpression of shox2 leading to congenital dysplasia of the TMJ, a mouse model in which Ihh and shox2 were overexpressed (Wnt1-Cre; pMes-stop shox2; pMes-stop Ihh mice) was utilized to assess the consequences of this overexpression on TMJ development during post-natal life. The results showed that the developmental process and expression levels of runt-related transcription factor 2 and sex determining region Y-box 9 in the TMJ of the Wnt1-Cre; pMes-stop shox2; pMes-stop Ihh mice were similar to those in wild-type mice. Overexpression of Ihh rescued shox2 overexpression-associated reduction of extracellular matrix components. However, overexpression of Ihh did not inhibit the shox2 overexpression-associated increase of matrix metalloproteinases (MMPs) MMP9, MMP13 and apoptosis in the TMJ. These combinatory cellular and molecular defects appeared to account for the observed congenital dysplasia of TMJ, suggesting that overexpression of Ihh partially rescued shox2 overexpression-associated congenital dysplasia of the TMJ in mice. PMID:26096903

  2. Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability

    PubMed Central

    Kernohan, Kristin D.; Tétreault, Martine; Liwak-Muir, Urszula; Geraghty, Michael T.; Qin, Wen; Venkateswaran, Sunita; Davila, Jorge; Holcik, Martin; Majewski, Jacek; Richer, Julie; Boycott, Kym M.

    2015-01-01

    Protein translation is an essential cellular process initiated by the association of a methionyl–tRNA with the translation initiation factor eIF2. The Met-tRNA/eIF2 complex then associates with the small ribosomal subunit, other translation factors and mRNA, which together comprise the translational initiation complex. This process is regulated by the phosphorylation status of the ? subunit of eIF2 (eIF2?); phosphorylated eIF2? attenuates protein translation. Here, we report a consanguineous family with severe microcephaly, short stature, hypoplastic brainstem and cord, delayed myelination and intellectual disability in two siblings. Whole-exome sequencing identified a homozygous missense mutation, c.1972G>A; p.Arg658Cys, in protein phosphatase 1, regulatory subunit 15b (PPP1R15B), a protein which functions with the PPP1C phosphatase to maintain dephosphorylated eIF2? in unstressed cells. The p.R658C PPP1R15B mutation is located within the PPP1C binding site. We show that patient cells have greatly diminished levels of PPP1R15B–PPP1C interaction, which results in increased eIF2? phosphorylation and resistance to cellular stress. Finally, we find that patient cells have elevated levels of PPP1R15B mRNA and protein, suggesting activation of a compensatory program aimed at restoring cellular homeostasis which is ineffective due to PPP1R15B alteration. PPP1R15B now joins the expanding list of translation-associated proteins which when mutated cause rare genetic diseases. PMID:26307080

  3. Personality functioning: the influence of stature

    PubMed Central

    Ulph, F; Betts, P; Mulligan, J; Stratford, R

    2004-01-01

    Background: The Wessex Growth Study has monitored the psychological development of a large cohort of short normal and average height control participants since school entry. Aims: To examine the effect of stature on their personality functioning now that they are aged 18–20 years. Methods: This report contains data from 48 short normal and 66 control participants. Mean height SD score at recruitment was: short normals -2.62 SD, controls -0.22 SD. Final height SD score was: short normals -1.86, controls 0.07. The Adolescent to Adult Personality Functioning Assessment (ADAPFA) measures functioning in six domains: education and employment, love relationships, friendships, coping, social contacts, and negotiations. Results: No significant effect of recruitment height or final height was found on total ADAPFA score or on any of the domain scores. Socioeconomic status significantly affected total score, employment and education, and coping domain scores. Gender had a significant effect on total score, love relationships, coping, and social contacts domain scores. Salient aspects of daily living for this sample were identified from the interviews (prevalence%): consuming alcohol (94%), further education (63%), love relationships (55%), current drug use (29%), experience of violence (28%), parenthood (11%), and unemployment (9%). Stature was not significantly related to behaviour in any of these areas. Conclusions: Despite previously reported links between short stature and poorer psychosocial adaptation, no evidence was found that stature per se significantly affected the functioning of the participants in these areas as young adults. PMID:14709494

  4. Genetics Home Reference: Glycogen storage disease type III

    MedlinePLUS

    ... hypoglycemia ; hypotonia ; incidence ; inherited ; liver failure ; muscle tone ; population ; recessive ; short stature ; stature You may find definitions for these and many other terms in the ...

  5. Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.

    PubMed

    Schwartzentruber, Jeremy; Buhas, Daniela; Majewski, Jacek; Sasarman, Florin; Papillon-Cavanagh, Simon; Thiffault, Isabelle; Thiffaut, Isabelle; Sheldon, Katherine M; Massicotte, Christine; Patry, Lysanne; Simon, Mariella; Zare, Amir S; McKernan, Kevin J; Michaud, Jacques; Boles, Richard G; Deal, Cheri L; Desilets, Valerie; Shoubridge, Eric A; Samuels, Mark E

    2014-11-01

    Mutations in the nuclear-encoded mitochondrial aminoacyl-tRNA synthetases are associated with a range of clinical phenotypes. Here, we report a novel disorder in three adult patients with a phenotype including cataracts, short-stature secondary to growth hormone deficiency, sensorineural hearing deficit, peripheral sensory neuropathy, and skeletal dysplasia. Using SNP genotyping and whole-exome sequencing, we identified a single likely causal variant, a missense mutation in a conserved residue of the nuclear gene IARS2, encoding mitochondrial isoleucyl-tRNA synthetase. The mutation is homozygous in the affected patients, heterozygous in carriers, and absent in control chromosomes. IARS2 protein level was reduced in skin cells cultured from one of the patients, consistent with a pathogenic effect of the mutation. Compound heterozygous mutations in IARS2 were independently identified in a previously unreported patient with a more severe mitochondrial phenotype diagnosed as Leigh syndrome. This is the first report of clinical findings associated with IARS2 mutations. PMID:25130867

  6. 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

    McElreavey, K.; Barbaux, S.; Vilain, E.

    1994-09-01

    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.

  7. Association between Adult Stature and Energy Expenditure in Low-Income Women from Northeastern Brazil

    PubMed Central

    Albuquerque, Fabiana Cristina Alves; Bueno, Nassib Bezerra; Clemente, Ana Paula Grotti; Ferriolli, Eduardo; Florêncio, Telma Maria Menezes Toledo; Hoffman, Daniel; Sawaya, Ana Lydia

    2015-01-01

    Background Perinatal undernutrition may lead to important metabolic adaptations in adult life, short stature being the most visible. The present study aimed to evaluate the association between stature and total energy expenditure of low-income women. Method Women aged 19–45 years from low-income communities in Maceió-AL were recruited. A sample of 67 volunteers was selected and divided into either short stature (?152.4 cm; n = 34) or non-short stature (?158.7 cm; n = 33) group. Data on socioeconomic status, anthropometric variables, and hormonal profiles was collected. Total energy expenditure and body composition were assessed by the doubly labeled water technique with multiple points over 14 days. In addition, physical activity levels were measured with triaxial accelerometers and dietary intake data were collected using three 24-hour food records. Results The mean subject age was 30.94 years. Women of short stature had lower body weight and lean body mass compared to non-short women, but there were no differences in thyroid hormone concentrations or daily energy intake between the two groups. Short-stature women showed lower total energy expenditure (P = 0.01) and a significantly higher physical activity level (P = 0.01) compared to non-short women. However, the difference in total energy expenditure was no longer significant after statistical adjustment for age, lean body mass, and triiodothyronine concentrations. Conclusion Women with short stature present the same energy intake, but lower total energy expenditure than non-short women, even with a higher physical activity level, which suggests that they are more prone to weight gain. PMID:26147672

  8. Physiological Mechanisms of Upper Airway Hypotonia during REM Sleep

    PubMed Central

    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

    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

  9. Turner syndrome presented with tall stature due to overdosage of the SHOX gene

    PubMed Central

    Seo, Go Hun; Kang, Eungu; Cho, Ja Hyang; Lee, Beom Hee; Choi, Jin-Ho; Kim, Gu-Hwan; Seo, Eul-Ju

    2015-01-01

    Turner syndrome is one of the most common chromosomal disorders. It is caused by numerical or structural abnormalities of the X chromosome and results in short stature and gonadal dysgenesis. The short stature arises from haploinsufficiency of the SHOX gene, whereas overdosage contributes to tall stature. This report describes the first Korean case of Turner syndrome with tall stature caused by SHOX overdosage. The patient presented with primary amenorrhea and hypergonadotropic hypogonadism at the age of 17 years. Estrogen replacement therapy was initiated at that time. She displayed tall stature from childhood, with normal growth velocity, and reached a final height of 190 cm (standard deviation score, 4.3) at the age of 30 years. Her karyotype was 46,X, psu idic(X)(q21.2), representing partial monosomy of Xq and partial trisomy of Xp. Analysis by multiplex ligation-dependent probe amplification detected a duplication at Xp22.3-Xp22.2, encompassing the PPP2R3 gene near the 5'-end of the SHOX gene through the FANCD gene at Xp22.2. PMID:26191517

  10. 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 ; ...

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

    ERIC Educational Resources Information Center

    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

    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…

  12. 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

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

    2014-01-01

    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

  13. Novel treatment of short stature with aromatase inhibitors.

    PubMed

    Dunkel, Leo; Wickman, Sanna

    2003-09-01

    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

  14. Ancient-to-modern secular changes in Korean stature.

    PubMed

    Shin, Dong Hoon; Oh, Chang Seok; Kim, Yi-Suk; Hwang, Young-Il

    2012-03-01

    Statural growth in human populations is a sensitive indicator of socio-economic well-being, and improvements in socio-economic status are reflected in secular increases in adult height. In the present study, we investigated the statures of historical Korean societies to show how stature changed over time. Applying Fujii's equation, derived from modern Japanese, to the measurement of femora removed from 15th- to 19th-century Joseon tombs, the average heights of Korean adults during the Joseon dynasty were estimated to be 161.1 ± 5.6 cm and 148.9 ± 4.6 cm for males and females, respectively. Plotting statures for successive historical societies against time revealed that Korean heights remained relatively unchanged through to the end of the 19th century, a pattern that differs from that seen in many Western countries in which stature transiently decreases after the Middle Ages. In contrast, a sharp increase in Korean stature was observed at the beginning of the 20th century, similar to trends seen in other nations (although exact timing varies in different countries). There were no accompanying changes of stature sexual dimorphism. The data reported in this study reflect the unique historical experience of Korea; the relative isolation of Joseon society, the late onset of modernization (at the end of the 19th century), and the later occurrence of industrialization (during the 1960s). PMID:22270697

  15. Stature estimation from complete long bones in the Middle Pleistocene humans from the Sima de los Huesos, Sierra de Atapuerca (Spain).

    PubMed

    Carretero, José-Miguel; Rodríguez, Laura; García-González, Rebeca; Arsuaga, Juan-Luis; Gómez-Olivencia, Asier; Lorenzo, Carlos; Bonmatí, Alejandro; Gracia, Ana; Martínez, Ignacio; Quam, Rolf

    2012-02-01

    Systematic excavations at the site of the Sima de los Huesos (SH) in the Sierra de Atapuerca (Burgos, Spain) have allowed us to reconstruct 27 complete long bones of the human species Homo heidelbergensis. The SH sample is used here, together with a sample of 39 complete Homo neanderthalensis long bones and 17 complete early Homo sapiens (Skhul/Qafzeh) long bones, to compare the stature of these three different human species. Stature is estimated for each bone using race- and sex-independent regression formulae, yielding an average stature for each bone within each taxon. The mean length of each long bone from SH is significantly greater (p < 0.05) than the corresponding mean values in the Neandertal sample. The stature has been calculated for male and female specimens separately, averaging both means to calculate a general mean. This general mean stature for the entire sample of long bones is 163.6 cm for the SH hominins, 160.6 cm for Neandertals and 177.4 cm for early modern humans. Despite some overlap in the ranges of variation, all mean values in the SH sample (whether considering isolated bones, the upper or lower limb, males or females or more complete individuals) are larger than those of Neandertals. Given the strong relationship between long bone length and stature, we conclude that SH hominins represent a slightly taller population or species than the Neandertals. However, compared with living European Mediterranean populations, neither the Sima de los Huesos hominins nor the Neandertals should be considered 'short' people. In fact, the average stature within the genus Homo seems to have changed little over the course of the last two million years, since the appearance of Homo ergaster in East Africa. It is only with the emergence of H. sapiens, whose earliest representatives were 'very tall', that a significant increase in stature can be documented. PMID:22196156

  16. Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome

    PubMed Central

    Lalani, Seema R.; Zhang, Jing; Schaaf, Christian P.; Brown, Chester W.; Magoulas, Pilar; Tsai, Anne Chun-Hui; El-Gharbawy, Areeg; Wierenga, Klaas J.; Bartholomew, Dennis; Fong, Chin-To; Barbaro-Dieber, Tina; Kukolich, Mary K.; Burrage, Lindsay C.; Austin, Elise; Keller, Kory; Pastore, Matthew; Fernandez, Fabio; Lotze, Timothy; Wilfong, Angus; Purcarin, Gabriela; Zhu, Wenmiao; Craigen, William J.; McGuire, Marianne; Jain, Mahim; Cooney, Erin; Azamian, Mahshid; Bainbridge, Matthew N.; Muzny, Donna M.; Boerwinkle, Eric; Person, Richard E.; Niu, Zhiyv; Eng, Christine M.; Lupski, James R.; Gibbs, Richard A.; Beaudet, Arthur L.; Yang, Yaping; Wang, Meng C.; Xia, Fan

    2014-01-01

    5q31.3 microdeletion syndrome is characterized by neonatal hypotonia, encephalopathy with or without epilepsy, and severe developmental delay, and the minimal critical deletion interval harbors three genes. We describe 11 individuals with clinical features of 5q31.3 microdeletion syndrome and de novo mutations in PURA, encoding transcriptional activator protein Pur-?, within the critical region. These data implicate causative PURA mutations responsible for the severe neurological phenotypes observed in this syndrome. PMID:25439098

  17. Encephalopathy and Hypotonia due to Baclofen Toxicity in a Patient with End-Stage Renal Disease

    PubMed Central

    Ijaz, Mohsin; Tariq, Hassan; Kashif, Muhammad; Marquez, Jose Gomez

    2015-01-01

    Patient: Female, 57 Final Diagnosis: Baclofen toxicity Symptoms: Encephalopathy • hypotonia Medication: Baclofen Clinical Procedure: Hemodialysis Specialty: Critical Care Objective: Unusual or unexpected effect of treatment Background: Baclofen is a centrally acting gamma-aminobutyric acid agonist used for the symptomatic relief of skeletal muscle spasm and spasticity in traumatic spinal cord lesions, multiple sclerosis, cerebral palsy, and stroke. It is also used in the treatment of chronic hiccups and cocaine abuse. Baclofen-induced central nervous system depression is rare at the usual therapeutic doses. However, patients with impaired renal function are at a higher risk of developing baclofen toxicity, even at a lower dose. Case Report: A 57-year-old woman with end-stage renal disease on hemodialysis was admitted to our emergency department with progressive confusion and a generalized decrease in muscular tone. There was no obvious metabolic or infectious etiology that could have explained her condition. A comprehensive laboratory and imaging workup was negative. A review of her medication showed that she had recently been prescribed baclofen for muscular spasm. She was diagnosed with baclofen toxicity and was treated with emergent hemodialysis, which improved her mental status and her decreased muscle tone. Repeated sessions of hemodialysis administered on her second and third days of admission ultimately produced sustained clinical improvement and a complete return to her baseline mental status. She was subsequently discharged home with instructions to stay off baclofen. Conclusions: Baclofen toxicity is an under-diagnosed condition, especially in patients with renal dysfunction. Physicians should consider baclofen toxicity in patients with suboptimal kidney function on baclofen who present with altered mental status. Emergent hemodialysis and intensive care unit monitoring is recommended. PMID:25895118

  18. XYY syndrome: a 13-year-old boy with tall stature.

    PubMed

    Jo, Won Ha; Jung, Mo Kyung; Kim, Ki Eun; Chae, Hyun Wook; Kim, Duk Hee; Kwon, Ah Reum; Kim, Ho-Seong

    2015-09-01

    When evaluating the underlying causes of tall stature, it is important to differentiate pathologic tall stature from familial tall stature. Various pathologic conditions leading to adult tall stature include excess growth hormone secretion, Marfan syndrome, androgen or estrogen deficiency, testicular feminization, and sex chromosome anomaly, such as Klinefelter syndrome and XYY syndrome. Men with 47,XYY syndrome can exhibit multiple phenotypes. A 13-year-old boy visited the hospital for evaluation of tall stature. The boy had no other physical abnormalities except tall stature. All biochemical and imaging studies were within the normal ranges. He was diagnosed with XYY syndrome in this chromosome study. When evaluating men with tall stature, XYY syndrome should be ruled out. PMID:26512355

  19. XYY syndrome: a 13-year-old boy with tall stature

    PubMed Central

    Jo, Won Ha; Jung, Mo Kyung; Kim, Ki Eun; Chae, Hyun Wook; Kim, Duk Hee; Kwon, Ah Reum

    2015-01-01

    When evaluating the underlying causes of tall stature, it is important to differentiate pathologic tall stature from familial tall stature. Various pathologic conditions leading to adult tall stature include excess growth hormone secretion, Marfan syndrome, androgen or estrogen deficiency, testicular feminization, and sex chromosome anomaly, such as Klinefelter syndrome and XYY syndrome. Men with 47,XYY syndrome can exhibit multiple phenotypes. A 13-year-old boy visited the hospital for evaluation of tall stature. The boy had no other physical abnormalities except tall stature. All biochemical and imaging studies were within the normal ranges. He was diagnosed with XYY syndrome in this chromosome study. When evaluating men with tall stature, XYY syndrome should be ruled out. PMID:26512355

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

    PubMed

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

    2015-03-01

    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 18-24 years, 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

  1. Biological Conditions and Economic Development: Nineteenth-Century Stature on the U.S. Great Plains.

    PubMed

    Carson, Scott Alan

    2015-06-01

    Average stature is now a well-accepted measure of material and economic well-being in development studies when traditional measures are sparse or unreliable, but little work has been done on the biological conditions for individuals on the nineteenth-century U.S. Great Plains. Records of 14,427 inmates from the Nebraska state prison are used to examine the relationship between stature and economic conditions. Statures of both black and white prisoners in Nebraska increased through time, indicating that biological conditions improved as Nebraska's output market and agricultural sectors developed. The effect of rural environments on stature is illustrated by the fact that farm laborers were taller than common laborers. Urbanization and industrialization had significant impacts on stature, and proximity to trade routes and waterways was inversely related to stature. PMID:26040245

  2. Is There a Correlation Between Footstep Length, Lower Extremities, and Stature?

    PubMed

    Kanchan, Tanuj; Sinha, Shreya; Krishan, Kewal

    2015-09-01

    A probable correlation between stature and footstep length is expected, and consequently, the stature may be estimated from footstep length. The present research was conducted to study the correlation of footstep length with length of the lower extremities and stature. The study participants (n=142) were asked to walk on a paper sheet with inked feet and footstep length was measured. Mean stature and lower limb length were significantly larger in males. Sex differences were not observed in the average footstep length. Average footstep length and lower limb length did not show a significant correlation among the participants. A statistically significant correlation was observed between average footstep length and stature only among females. Our observations suggest that the length of the lower limb may not be a major factor in determining the footstep length of a person and that the forensic utility of stature estimation from footstep length may be limited. PMID:26218919

  3. Stature estimation from sternum length using computed tomography-volume rendering technique images of western Chinese.

    PubMed

    Zhang, Kui; Luo, Ying-zhen; Fan, Fei; Zheng, Jie-qian; Yang, Min; Li, Tao; Pang, Tao; Zhang, Jian; Deng, Zhen-hua

    2015-10-01

    The objective of the present investigation was to generate linear regression models for stature estimation on the basis of sternum length derived from computed tomography-volume rendering technique (CT-VRT) images for Western Chinese. The study sample comprised 288 individuals of Western Chinese, including 124 females and 164 males, with documented ages between 19 and 78 years, and was randomly divided into two subgroups. The linear regression analysis for the calibration sample data yielded the following formulae: male stature (cm) = 137.28 + 1.99*combined length of manubrium and mesosternum and female stature (cm) = 111.59 + 3.51* combined length of manubrium and mesosternum. Pearson's correlation coefficients for the regression models were r = 0.459 and r = 0.541 for the male and female formulae, respectively. The standard errors of the estimate (SEE) were 4.76 cm for the male equation and 6.73 cm for the female equation. The 95% confidence intervals of the predicted values encompassed the correct stature of all specimen in the validation sample. The regression equations derived from the sternum length in the present study can be used for stature estimation and the length of the sternum is a reliable predictor of stature in Chinese when better predictors of stature like the long bones are not available, and the CT-VRT method may be a practical method for stature estimation. PMID:26344458

  4. Estimation of Stature from Arm Span in Medical Students of Maharashtra, India

    PubMed Central

    Supare, MS; Bagul, AS; Pandit, SV; Jadhav, JS

    2015-01-01

    Background: Stature can be estimated from body parameters in dead and mutilated bodies using regression equation or multiplication factor. However, regression equations and multiplication factors are specific for the region only and can’t be used in all population. Aim: To formulate regression equation and multiplication factor for the estimation of stature from arm span (AS) for a region in Maharashtra, India. Subjects and Methods: It was a cross-sectional study, did over a period of 2 years, from October 2011 to September 2013. Four hundred students of three Government medical colleges of Maharashtra, aged 18–24 years were enrolled in the study. Stature and AS were measured and subjected to statistical analysis. Unpaired t-test and simple linear regression were used. Results: Stature and AS of 400 medical students (219 males and 181 females) were measured. Subjects were divided into six groups depending upon age. Simple regression equation and multiplication factor for male and female and for each age group were derived for estimation of stature. We found correlation coefficient (R) of 0.89 in male and 0.90 in female using simple regression, which shows strong correlation between stature and AS. Conclusion: Mean stature and AS of male were more than female with statistical significance. Stature can be accurately estimated from AS using simple regression equation or multiplication factor. PMID:26097765

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

    ERIC Educational Resources Information Center

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

    2011-01-01

    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…

  6. De novo interstitial deletion of 15q22q23 with global developmental delay and hypotonia: the first Korean case.

    PubMed

    Kim, Ha-Su; Han, Jin-Yeong; Kim, Myo-Jing

    2015-08-01

    Interstitial deletions involving the chromosome band 15q22q24 are very rare and only nine cases have been previously reported. Here, we report on a 12-day-old patient with a de novo 15q22q23 interstitial deletion. He was born by elective cesarean section with a birth weight of 3,120 g at 41.3-week gestation. He presented with hypotonia, sensory and neural hearing loss, dysmorphism with frontal bossing, flat nasal bridge, microretrognathia with normal palate and uvula, thin upper lip in an inverted V-shape, a midline sacral dimple, severe calcanovalgus at admission, and severe global developmental delay at 18 months of age. Fluorescence in situ hybridization findings confirmed that the deleted regions contained at least 15q22. The chromosome analysis revealed a karyotype of 46,XY,del(15) (q22q23). Parental chromosome analysis was performed and results were normal. After reviewing the limited literature on interstitial 15q deletions, we believe that the presented case is the first description of mapping of an interstitial deletion involving the chromosome 15q22q23 segment in Korea. This report adds to the knowledge of the clinical phenotype associated with the 15q22q23 deletion. PMID:26388897

  7. De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.

    PubMed

    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

    2014-05-01

    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

  8. Stature in 19th and early 20th century Copenhagen. A comparative study based on skeletal remains.

    PubMed

    Jørkov, Marie Louise S

    2015-12-01

    Individual stature depends on multifactorial causes and is often used as a proxy for investigating the biological standard of living. While the majority of European studies on 19th and 20th century populations are based on conscript heights, stature derived from skeletal remains are scarce. For the first time in Denmark this study makes a comparison between skeletal stature and contemporary Danish conscript heights and investigates stature of males and females temporally and between socially distinct individuals and populations in 19th and early 20th century Copenhagen. A total of 357 individuals (181 males, 176 females) excavated at the Assistens cemetery in Copenhagen is analyzed. Two stature regression formulae (Trotter, 1970; Boldsen, 1990) are applied using femur measurements and evaluated compared to conscript heights. The results indicate that mean male stature using Boldsen follows a similar trend as the Danish conscript heights and that Trotter overestimate stature by ca. 6cm over Boldsen. At an inter population level statistically significant differences in male stature are observed between first and second half of the 19th century towards a slight stature decrease and larger variation while there are no significant changes observed in female stature. There are insignificant differences in stature between middle and high class individuals, but male stature differs statistically between cemeteries (p=0.000) representing middle/high class, paupers and navy employees, respectively. Female stature had no significant wealth gradient (p=0.516). This study provides new evidence of stature among males and females during the 19th century and suggests that males may have been more sensitive to changes in environmental living and nutrition than females. PMID:26256129

  9. Covariation between human pelvis shape, stature, and head size alleviates the obstetric dilemma

    PubMed Central

    Fischer, Barbara; Mitteroecker, Philipp

    2015-01-01

    Compared with other primates, childbirth is remarkably difficult in humans because the head of a human neonate is large relative to the birth-relevant dimensions of the maternal pelvis. It seems puzzling that females have not evolved wider pelvises despite the high maternal mortality and morbidity risk connected to childbirth. Despite this seeming lack of change in average pelvic morphology, we show that humans have evolved a complex link between pelvis shape, stature, and head circumference that was not recognized before. The identified covariance patterns contribute to ameliorate the “obstetric dilemma.” Females with a large head, who are likely to give birth to neonates with a large head, possess birth canals that are shaped to better accommodate large-headed neonates. Short females with an increased risk of cephalopelvic mismatch possess a rounder inlet, which is beneficial for obstetrics. We suggest that these covariances have evolved by the strong correlational selection resulting from childbirth. Although males are not subject to obstetric selection, they also show part of these association patterns, indicating a genetic–developmental origin of integration. PMID:25902498

  10. Photosynthetic acclimation to light changes in tropical monsoon forest woody species differing in adult stature.

    PubMed

    Cai, Z-Q; Rijkers, T; Bongers, F

    2005-08-01

    We studied morphological and physiological leaf and whole-plant features of seedlings of six late-successional woody species common in the Xishuangbanna lowland rain forest in southwest China. Study species differed in adult stature and shade tolerance and included the shrubs Lasianthus attenuatus Jack and Lasianthus hookeri C.B. Clarke ex Hook. f.; the sub-canopy species Barringtonia macrostachya (Jack) Kurz and Linociera insignis C.B. Clarke; the canopy tree Pometia tomentosa (Blume) Teijsm. & Binn.; and the emergent species Shorea chinensis (Wang Hsie) H. Zhu. After 1 year of growth in low light (4.5% full sun), seedlings were transferred to high light (24.5% full sun) to investigate acclimation responses of existing leaves to forest gap opening and to determine whether seedling capacity for acclimation is a limiting factor in its natural regeneration. Leaves of the shrub species are shade-adapted, as indicated by their low photosynthetic capacity, efficiency in using sunflecks, low stomatal density, low Chl a/b ratio and high spongy/palisade mesophyll ratio. The shrub species utilized sunflecks efficiently because they had a short photosynthetic induction time and low induction loss. In all species, transfer of seedlings to high light resulted in a substantial initial reduction in the dark-adapted quantum yield of photosystem II (variable chlorophyll fluorescence/maximum chlorophyll fluorescence; Fv/Fm) at midday. Predawn Fv/Fm of the taller species did not change greatly, but predawn Fv/Fm of the shrub species decreased significantly without complete recovery within 25 days of transfer to high light, indicating chronic photoinhibition and damage to the previously shade-adapted leaves. Maximum net photosynthetic rate and dark respiration of the four taller species increased considerably after transfer to high light, but not in the shrub species. Similar trends were observed for the number of newly formed leaves and relative height growth rate. We conclude that the shrubs L. hookeri and L. attenuatus have limited potential for developmental and physiological acclimation to high light, which explains their absence from forest gaps. Compared with the shrub species, the taller tree species, which are more likely to experience high light during their life span, showed a greater potential for light acclimation. Physiological differences among the four tree species were not consistent with differences in adult stature. PMID:15929933

  11. Copy Number Variants in Short Children Born Small for Gestational Age

    PubMed Central

    Wit, Jan M.; van Duyvenvoorde, Hermine A.; van Klinken, Jan B.; Caliebe, Janina; Bosch, Cathy A.J.; Lui, Julian C.; Gijsbers, Antoinet C.J.; Bakker, Egbert; Breuning, Martijn H.; Oostdijk, Wilma; Losekoot, Monique; Baron, Jeffrey; Binder, Gerhard; Ranke, Michael B.; Ruivenkamp, Claudia A.L.

    2014-01-01

    Background/aims In addition to Genome-Wide Association studies (GWAS) height-associated genes may be uncovered by studying individuals with extreme short or tall stature. Methods Genome-wide analysis for copy number variants (CNVs), using Single Nucleotide Polymorphism (SNP) arrays, was performed in 49 index cases born small for gestational age (SGA) with persistent short stature. Segregation analysis was performed, and genes in CNVs were compared with information from GWAS, gene expression in rodents’ growth plates, and published information. Results CNVs were detected in 13 cases. In 5 children a known cause of short stature was found: UPD7, UPD14, a duplication of the SHOX enhancer region, an IGF1R deletion, and a 22q11.21 deletion. In the remaining 8 cases potential pathogenic CNVs were detected, either de novo (n=1), segregating (n=2), or not segregating with short stature (n=5). Bioinformatic analysis of the de novo and segregating CNVs suggested that HOXD4, AGPS, PDE11A, OSBPL6, PRKRA and PLEKHA3, and possibly DGKB and TNFRSF11B are potential candidate genes. A SERPINA7 or NRK defect may be associated with an X-linked form of short stature. Conclusion SNP arrays detected 5 known causes of short stature with prenatal onset and suggested several potential candidate genes. PMID:25300501

  12. From toe to head: use of robust regression methods in stature estimation based on foot remains.

    PubMed

    Pablos, Adrián; Gómez-Olivencia, Asier; García-Pérez, Alfonso; Martínez, Ignacio; Lorenzo, Carlos; Arsuaga, Juan Luis

    2013-03-10

    Stature estimation is a standard procedure in the fields of forensic and biological anthropology, bio-archaeology and paleoanthropology, in order to gain biological insights into the individuals/populations studied. The most accurate stature estimation method is based on anatomical reconstruction (i.e., the Fully method), followed by type I regression equations (e.g., ordinary least squares - OLS) based on long bones, preferably from the lower limb. In some cases, due to the fragmentary nature of the osseous material recovered, stature estimates have to rely on other elements, such as foot remains. In this study, we explore stature estimation based on different foot bones: the talus, calcaneus, and metatarsals 1-4 in Afro- and Euroamericans of both sexes. The approach undertaken in this study is novel for two reasons. First, individual estimates for each bone are provided, and tarsals and metatarsals are combined in order to obtain more accurate estimates. Second, robust statistical methods based on type I regression equations are used, namely least trimmed squares (LTS). Our results show that the best individual bones for estimating stature are the first and second metatarsal and both the talus and the calcaneus. The combination of a tarsal and a metatarsal bone slightly improves the accuracy of the stature estimate. PMID:23385140

  13. The relationship between cadaver, living and forensic stature: A review of current knowledge and a test using a sample of adult Portuguese males.

    PubMed

    Cardoso, Hugo F V; Marinho, Luísa; Albanese, John

    2016-01-01

    The use of cadaver length and forensic stature as a proxy for living standing height has not been scrutinized in detail. In this paper we present a brief review of the current knowledge on the relationship between cadaver, living and forensic stature; assess the magnitude and nature of the differences between these three measures of stature; and investigate the potential impact of these differences in forensic contexts. The study uses a sample of 84 males who were autopsied in 2008 at the National Institute of Legal Medicine and Forensic Sciences (Porto, Portugal), where stature data were collected from three different sources: cadaver stature was obtained from the corpse prior to autopsy, living stature was obtained from military conscription records and forensic stature was obtained from national citizenship identification card records. Descriptive statistics, ANOVA and linear regression are used to analyze the data. The results show that cadaver stature is the highest measure, followed by forensic and by living stature, and the difference between cadaver and living stature is greater than expected (4.3cm). Results also show considerable individual variation in the differences between the three measures of stature and that differences decrease with stature, although only slightly. This study has shown that the difference between cadaver and living stature is greater than previously thought and suggests that previously reported correction factors are a minimum rather than a mean correction. Forensic stature is likely to be incorrectly estimated and can jeopardize identification if methods estimate living rather than forensic stature. PMID:26654866

  14. Effect of fusion status of sternum in stature estimation - A study from South India.

    PubMed

    Chandrakanth, H V; Kanchan, Tanuj; Krishan, Kewal

    2015-11-01

    Forensic anthropologists examine and identify skeletal, dismembered and commingled remains in a legal context to establish the biological profile of the deceased. Stature estimation is one of the important parameters in establishing the biological profile. The present study is planned to derive regression models for stature estimation from sternal measurements. Various factors are likely to affect stature estimation in forensic investigations. Since, none of the previous researchers have studied the effect of fusion status on stature estimation from sternum and its segments, the present study attempts to find if the fusion status of the sternum affect its reliability and accuracy in stature estimation. The sample of the present study consisted of 117 sterna that were obtained from autopsied bodies. Five measurements i.e. Length of manubrium (M), length of mesosternum (B), combined length of manusbrium and mesosternum and the (M + B), width at first sternabrae (S1) and width of 3rd sternabrae (S3) were taken on the autopsied sterna. The sterna were classified as fused (both manubriosternal and xiphisternal joints were fused), partly fused (only one of the manubriosternal or xiphisternal joints was fused) and not fused (both manubriosternal and xiphisternal joints were not fused). Regression models were derived using statistical methods. All the sternal measurements show a positive however, a weak correlation with stature. Thus, it can be concluded that the accuracy and reliability of stature estimation from sternum and its segments is quite low in practical situations. Among the sterna classified based on the fusion status, the length measurements of completely fused sterna show significant correlation with the stature. None of the other sternal measurements on the non-fused or partly fused sterna show statistically significant correlation with stature. The present study concludes that the fusion status of the sternum is likely to affect the reliability and accuracy in estimation of stature. The findings of this study however, should be considered 'preliminary' until they are corroborated by similar studies based on larger samples from different populations. PMID:26414874

  15. Study of the relationship between a person's stature and the height of an ear imprint from the floor.

    PubMed

    van der Lugt, C; Nagelkerke, N J D; Maat, G J R

    2005-04-01

    Occasionally ear prints are found at crime scenes. The height of the ear imprint may provide the police with information regarding the stature of the perpetrator and may therefore help to narrow down the number of suspects. The research provides calculations for the determination of stature from the height of the tragus imprint found at crime scenes. It takes into account various variables such as age, stature and gender. PMID:15895639

  16. Estimation of stature from radiologic anthropometry of the lumbar vertebral dimensions in Chinese.

    PubMed

    Zhang, Kui; Chang, Yun-Feng; Fan, Fei; Deng, Zhen-Hua

    2015-11-01

    The resent study was to assess the relationship between the radiologic anthropometry of the lumbar vertebral dimensions and stature in Chinese and to develop regression formulae to estimate stature from these dimensions. A total of 412 normal, healthy volunteers, comprising 206 males and 206 females, were recruited. The linear regression analysis were performed to assess the correlation between the stature and lengths of various segments of the lumbar vertebral column. Among the regression equations created for single variable, the predictive value was greatest for the reconstruction of stature from the lumbar segment in both sexes and subgroup analysis. When individual vertebral body was used, the heights of posterior vertebral body of L3 gave the most accurate results for male group, the heights of central vertebral body of L1 provided the most accurate results for female group and female group with age above 45years, the heights of central vertebral body of L3 gave the most accurate results for the groups with age from 20-45years for both sexes and the male group with age above 45years. The heights of anterior vertebral body of L5 gave the less accurate results except for the heights of anterior vertebral body of L4 provided the less accurate result for the male group with age above 45years. As expected, multiple regression equations were more successful than equations derived from a single variable. The research observations suggest lumbar vertebral dimensions to be useful in stature estimation among Chinese population. PMID:26593994

  17. Estimation of stature from maxillo-facial anthropometry in a central Indian population

    PubMed Central

    Wankhede, Kanchankumar P; Kamdi, Namdeo Y; Parchand, Madhukar P; Anjankar, Vaibhav P; Bardale, Rajesh V

    2012-01-01

    Background: For establishing identity, stature is an important parameter in medico-legal and forensic examination. Aims: To estimate stature from facial parameters. Setting and Design: Prospective study conducted from December 2007 to September 2008 in the Department of Anatomy, Government Medical College, Nagpur. Materials and Methods: A total of 470 healthy medical students were taken, comprising 260 males and 210 females in the age group of 18 to 24 years. Statistical Analysis: The data were analyzed using regression analysis and correlation coefficient. Results: The average height of males and females was 170.97 (± 6.80) cm and 156.89 (± 5.89) cm respectively. It was observed that in males the total facial height had greater correlation with stature (r = 0.19) and had standard error of ±6.68 cm. In females, nasal height had greater correlation with stature (r = 0.19) and had standard error of ±5.78 cm Conclusion: It can be stated that percutaneous facial dimensions are not good predictors of accurate stature estimation and can be used when other parameters are not available PMID:23087580

  18. Stature estimation in Japanese cadavers based on scapular measurements using multidetector computed tomography.

    PubMed

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

    2015-01-01

    This study assessed the correlation between stature and scapular measurements in a Japanese population, using three-dimensional (3D) computed tomographic (CT) images, and derived regression equations for predicting stature. A total of 194 cadavers (100 males 94 females) underwent postmortem CT (PMCT) and subsequent forensic autopsy in our department between May 2011 and April 2014. Left and right longitudinal scapular lengths (LLSL and RLSL, respectively) and left and right transverse scapular lengths (LTSL and RTSL, respectively) were measured on 3D CT reconstructed images that extracted only scapular data. The correlation between stature and each of the scapular measurements were analyzed using Pearson product-moment correlation coefficients. The four variables correlated significantly with stature, regardless of sex. The LLSL measurement had the lowest standard error of estimation value among all subjects (4.22 cm) and among all females (4.37 cm), whereas the RLSL measurement had the lowest standard error of estimation value among all males (3.75 cm). The results of this study indicate that scapular measurements may be useful for the forensic estimation of the stature of Japanese individuals, particularly in cases where better predictors, such as long bone lengths, are unavailable. PMID:25064735

  19. Body stature growth trajectories during childhood and the development of myopia

    PubMed Central

    Northstone, Kate; Guggenheim, Jeremy A.; Howe, Laura D.; Tilling, Kate; Paternoster, Lavinia; Kemp, John P.; McMahon, George; Williams, Cathy

    2015-01-01

    Purpose Stature at a particular age can be considered the cumulative result of growth during a number of preceding growth trajectory periods. We investigated whether height and weight growth trajectories from birth to age 10 years were related to refractive error at ages 11 and 15 years, and eye size at age 15 years. Design Prospective analysis in a birth cohort. Participants Children participating in the Avon Longitudinal Study of Parents and Children (ALSPAC) United Kingdom birth cohort (minimum N=2,676). Methods Growth trajectories between birth and 10 years were modeled from a series of height and weight measurements (N=6,815). Refractive error was assessed by non-cycloplegic autorefraction at ages 11 and 15 years (minimum N=4,737). Axial length and radius of corneal curvature were measured with an IOLmaster at age 15 years (minimum N=2,676). Growth trajectories, and an allelic score for 180 genetic variants associated with adult height, were tested for association with refractive error and eye size. Main outcome measures Non-cycloplegic autorefraction at ages 11 and 15 years, and axial length and corneal curvature at age 15 years. Results Height growth trajectory during the linear phase between 2.5-10 years was negatively associated with refractive error at 11 and 15 years (P<0.001), but explained <0.5% of inter-subject variation. Height and weight growth trajectories, especially shortly after birth, were positively associated with axial length and corneal curvature (P<0.001), predicting 1-5% of trait variation. Height growth after 2.5 years was not associated with corneal curvature, whilst the association with axial length continued up to 10 years. The height allelic score was associated with corneal curvature (P=0.03) but not with refractive error or axial length. Conclusions Up to the age of 10 years, shared growth mechanisms contribute to scaling of eye and body size but minimally to the development of myopia. PMID:23415774

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

    MedlinePLUS

    ... triangular face shape with a prominent forehead and deep-set eyes (ocular depression), thin nostrils, a downturned mouth, and a small chin. Eye abnormalities are common in affected individuals, particularly Rieger anomaly, which affects structures at the front of the eye. Rieger anomaly ...

  1. Identifying biological pathways that underlie primordial short stature using network analysis

    PubMed Central

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

    2014-01-01

    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

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

    SciTech Connect

    1995-05-08

    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.

  3. Truncation of POC1A associated with short stature and extreme insulin resistance

    E-print Network

    Chen, Jian-Hua; Segni, Maria; Payne, Felicity; Huang-Doran, Isabel; Sleigh, Alison; Adams, Claire; UK10K Consortium; Savage, David B.; O’Rahilly, Stephen; Semple, Robert K.; Barroso, Inês

    2015-10-01

    mitosis, but showed normal DNA content, arguing against mitotic skipping, cleavage failure or cell fusion. Despite evidence of increased DNA damage in cells with supernumerary centrosomes, no aneuploidy was detected. Extensive centrosome clustering both...

  4. Truncation of POC1A associated with short stature and extreme insulin resistance.

    PubMed

    Chen, Jian-Hua; Segni, Maria; Payne, Felicity; Huang-Doran, Isabel; Sleigh, Alison; Adams, Claire; Savage, David B; O'Rahilly, Stephen; Semple, Robert K; Barroso, Inês

    2015-10-01

    We describe a female proband with primordial dwarfism, skeletal dysplasia, facial dysmorphism, extreme dyslipidaemic insulin resistance and fatty liver associated with a novel homozygous frameshift mutation in POC1A, predicted to affect two of the three protein products of the gene. POC1A encodes a protein associated with centrioles throughout the cell cycle and implicated in both mitotic spindle and primary ciliary function. Three homozygous mutations affecting all isoforms of POC1A have recently been implicated in a similar syndrome of primordial dwarfism, although no detailed metabolic phenotypes were described. Primary cells from the proband we describe exhibited increased centrosome amplification and multipolar spindle formation during mitosis, but showed normal DNA content, arguing against mitotic skipping, cleavage failure or cell fusion. Despite evidence of increased DNA damage in cells with supernumerary centrosomes, no aneuploidy was detected. Extensive centrosome clustering both at mitotic spindles and in primary cilia mitigated the consequences of centrosome amplification, and primary ciliary formation was normal. Although further metabolic studies of patients with POC1A mutations are warranted, we suggest that POC1A may be added to ALMS1 and PCNT as examples of centrosomal or pericentriolar proteins whose dysfunction leads to extreme dyslipidaemic insulin resistance. Further investigation of links between these molecular defects and adipose tissue dysfunction is likely to yield insights into mechanisms of adipose tissue maintenance and regeneration that are critical to metabolic health. PMID:26336158

  5. Severe pre- and postnatal growth retardation, developmental delay with hypotonia and marked hypotrophy of the distal extremities, dental anomalies, and eczematous skin. A new autosomal recessive entity.

    PubMed

    Grubben, C; de Cock, P; Borghgraef, M; van den Berghe, H; Fryns, J P

    1992-01-01

    We report on three young children, two girls and one boy, with pre- and postnatal growth deficiency, hypotonia, psychomotor retardation with notably impaired speech development, hypotrophy of the distal extremities, small hands and feet, small and widely spaced teeth, eczematous skin, and, in two of them, a partial agenesis of the corpus callosum. To our knowledge this specific combination of features has not been reported before. Since the two girls are sisters and the boy is the product of a consanguineous marriage, the inheritance of this new syndrome appears to be autosomal recessive. PMID:1378778

  6. Features of Two Cases with 18q Deletion Syndrome

    PubMed Central

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

    2014-01-01

    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

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

    PubMed

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

    2014-07-01

    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

  8. A metastable DWARF1 epigenetic mutant affecting plant stature in rice

    E-print Network

    Jacobsen, Steve

    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

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

    PubMed Central

    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

    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

  10. Craniometric analysis for estimation of stature in Nepalese population--A study on an autopsy sample.

    PubMed

    Shrestha, Rijen; Shrestha, Pramod Kumar; Wasti, Harihar; Kadel, Tulsi; Kanchan, Tanuj; Krishan, Kewal

    2015-03-01

    Establishing the identity of the deceased becomes essential when highly decomposed bodies, mutilated body parts or skeletal remains are recovered from mass fatality sites. In these situations, estimation of stature along with other parameters such as age, sex and race/ethnicity becomes important to establish the biological profile of the deceased. Following the Maoist insurgency in Nepal, there have been numerous discoveries of unidentified human remains in mass graves or otherwise. No systemic studies and anthropological data on the Nepalese population however, is available posing problems in anthropologic evaluation of the remains. The sample of the present study consisted of 200 autopsied cases (148 males and 52 female adult cadavers). During the autopsy, the scalp was reflected after giving a coronal incision extending from one mastoid to the other exposing the cranium in each case. Maximum cranial length (MCL), maximum cranial breadth (MCB), bi-zygomatic breadth (BZB), minimum frontal breadth (MFB) and length of parietal chord (PC) were then measured. Stature was measured as the length of the body from head to heel in centimeters with the heel, buttocks, back of the shoulders and the head in contact with the autopsy table. Linear and stepwise multiple regression models were derived for estimation of stature from cranial measurements. Univariate, bivariate and multivariate regression models show statistically significant correlation between stature and the cranial measurements. The present study opines that the stature estimation from cranial dimensions using multivariate linear regression models is more accurate than those of the univariate and bivariate regression models. This study presents a rare data from Nepalese population that show typical Asian features and thus, is significant from anthropologic and genetic point of view. The study observations further contribute a baseline data bank for forensic pathologists and specialists. PMID:25595547

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

    PubMed Central

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

    2013-01-01

    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

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

    SciTech Connect

    Raynaud, M.; Dessay, B.; Ayrault, A.D.

    1996-07-12

    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.

  13. De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

    PubMed Central

    Chong, Jessica X.; McMillin, Margaret J.; Shively, Kathryn M.; Beck, Anita E.; Marvin, Colby T.; Armenteros, Jose R.; Buckingham, Kati J.; Nkinsi, Naomi T.; Boyle, Evan A.; Berry, Margaret N.; Bocian, Maureen; Foulds, Nicola; Uzielli, Maria Luisa Giovannucci; Haldeman-Englert, Chad; Hennekam, Raoul C.M.; Kaplan, Paige; Kline, Antonie D.; Mercer, Catherine L.; Nowaczyk, Malgorzata J.M.; Klein Wassink-Ruiter, Jolien S.; McPherson, Elizabeth W.; Moreno, Regina A.; Scheuerle, Angela E.; Shashi, Vandana; Stevens, Cathy A.; Carey, John C.; Monteil, Arnaud; Lory, Philippe; Tabor, Holly K.; Smith, Joshua D.; Shendure, Jay; Nickerson, Deborah A.; Bamshad, Michael J.; Shendure, Jay; Nickerson, Deborah A.; Abecasis, Gonçalo R.; Anderson, Peter; Blue, Elizabeth Marchani; Annable, Marcus; Browning, Brian L.; Buckingham, Kati J.; Chen, Christina; Chin, Jennifer; Chong, Jessica X.; Cooper, Gregory M.; Davis, Colleen P.; Frazar, Christopher; Harrell, Tanya M.; He, Zongxiao; Jain, Preti; Jarvik, Gail P.; Jimenez, Guillaume; Johanson, Eric; Jun, Goo; Kircher, Martin; Kolar, Tom; Krauter, Stephanie A.; Krumm, Niklas; Leal, Suzanne M.; Luksic, Daniel; Marvin, Colby T.; McMillin, Margaret J.; McGee, Sean; O’Reilly, Patrick; Paeper, Bryan; Patterson, Karynne; Perez, Marcos; Phillips, Sam W.; Pijoan, Jessica; Poel, Christa; Reinier, Frederic; Robertson, Peggy D.; Santos-Cortez, Regie; Shaffer, Tristan; Shephard, Cindy; Shively, Kathryn M.; Siegel, Deborah L.; Smith, Joshua D.; Staples, Jeffrey C.; Tabor, Holly K.; Tackett, Monica; Underwood, Jason G.; Wegener, Marc; Wang, Gao; Wheeler, Marsha M.; Yi, Qian; Bamshad, Michael J.

    2015-01-01

    Freeman-Sheldon syndrome, or distal arthrogryposis type 2A (DA2A), is an autosomal-dominant condition caused by mutations in MYH3 and characterized by multiple congenital contractures of the face and limbs and normal cognitive development. We identified a subset of five individuals who had been putatively diagnosed with “DA2A with severe neurological abnormalities” and for whom congenital contractures of the limbs and face, hypotonia, and global developmental delay had resulted in early death in three cases; this is a unique condition that we now refer to as CLIFAHDD syndrome. Exome sequencing identified missense mutations in the sodium leak channel, non-selective (NALCN) in four families affected by CLIFAHDD syndrome. We used molecular-inversion probes to screen for NALCN in a cohort of 202 distal arthrogryposis (DA)-affected individuals as well as concurrent exome sequencing of six other DA-affected individuals, thus revealing NALCN mutations in ten additional families with “atypical” forms of DA. All 14 mutations were missense variants predicted to alter amino acid residues in or near the S5 and S6 pore-forming segments of NALCN, highlighting the functional importance of these segments. In vitro functional studies demonstrated that NALCN alterations nearly abolished the expression of wild-type NALCN, suggesting that alterations that cause CLIFAHDD syndrome have a dominant-negative effect. In contrast, homozygosity for mutations in other regions of NALCN has been reported in three families affected by an autosomal-recessive condition characterized mainly by hypotonia and severe intellectual disability. Accordingly, mutations in NALCN can cause either a recessive or dominant condition characterized by varied though overlapping phenotypic features, perhaps based on the type of mutation and affected protein domain(s). PMID:25683120

  14. CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay.

    PubMed

    Volodarsky, Michael; Lichtig, Hava; Leibson, Tom; Sadaka, Yair; Kadir, Rotem; Perez, Yonatan; Liani-Leibson, Keren; Gradstein, Libe; Shaco-Levy, Ruthy; Shorer, Zamir; Frank, Dale; Birk, Ohad S

    2015-11-15

    Siblings of non-consanguineous Jewish-Ethiopian ancestry presented with congenital axial hypotonia, weakness of the abducens nerve, psychomotor developmental delay with brain ventriculomegaly, variable thinning of corpus callosum and cardiac septal defects. Homozygosity mapping identified a single disease-associated locus of 3.5 Mb on chromosome 3. Studies of a Bedouin consanguineous kindred affected with a similar recessive phenotype identified a single disease-associated 18 Mb homozygosity locus encompassing the entire 3.5 Mb locus. Whole exome sequencing demonstrated only two homozygous mutations within a shared identical haplotype of 0.6 Mb, common to both Bedouin and Ethiopian affected individuals, suggesting an ancient common founder. Only one of the mutations segregated as expected in both kindreds and was not found in Bedouin and Jewish-Ethiopian controls: c.1404A>G, p.[*468Trpext*6] in CCDC174. We showed that CCDC174 is ubiquitous, restricted to the cell nucleus and co-localized with EIF4A3. In fact, yeast-two-hybrid assay demonstrated interaction of CCDC174 with EIF4A3, a component of exon junction complex. Knockdown of the CCDC174 ortholog in Xenopus laevis embryos resulted in poor neural fold closure at the neurula stage with later embryonic lethality. Knockdown embryos exhibited a sharp reduction in expression of n-tubulin, a marker for differentiating primary neurons, and of hindbrain markers krox20 and hoxb3. The Xenopus phenotype could be rescued by the human normal, yet not the mutant CCDC174 transcripts. Moreover, overexpression of mutant but not normal CCDC174 in neuroblastoma cells caused rapid apoptosis. In line with the hypotonia phenotype, the CCDC174 mutation caused depletion of RYR1 and marked myopathic changes in skeletal muscle of affected individuals. PMID:26358778

  15. De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.

    PubMed

    Chong, Jessica X; McMillin, Margaret J; Shively, Kathryn M; Beck, Anita E; Marvin, Colby T; Armenteros, Jose R; Buckingham, Kati J; Nkinsi, Naomi T; Boyle, Evan A; Berry, Margaret N; Bocian, Maureen; Foulds, Nicola; Uzielli, Maria Luisa Giovannucci; Haldeman-Englert, Chad; Hennekam, Raoul C M; Kaplan, Paige; Kline, Antonie D; Mercer, Catherine L; Nowaczyk, Malgorzata J M; Klein Wassink-Ruiter, Jolien S; McPherson, Elizabeth W; Moreno, Regina A; Scheuerle, Angela E; Shashi, Vandana; Stevens, Cathy A; Carey, John C; Monteil, Arnaud; Lory, Philippe; Tabor, Holly K; Smith, Joshua D; Shendure, Jay; Nickerson, Deborah A; Bamshad, Michael J

    2015-03-01

    Freeman-Sheldon syndrome, or distal arthrogryposis type 2A (DA2A), is an autosomal-dominant condition caused by mutations in MYH3 and characterized by multiple congenital contractures of the face and limbs and normal cognitive development. We identified a subset of five individuals who had been putatively diagnosed with "DA2A with severe neurological abnormalities" and for whom congenital contractures of the limbs and face, hypotonia, and global developmental delay had resulted in early death in three cases; this is a unique condition that we now refer to as CLIFAHDD syndrome. Exome sequencing identified missense mutations in the sodium leak channel, non-selective (NALCN) in four families affected by CLIFAHDD syndrome. We used molecular-inversion probes to screen for NALCN in a cohort of 202 distal arthrogryposis (DA)-affected individuals as well as concurrent exome sequencing of six other DA-affected individuals, thus revealing NALCN mutations in ten additional families with "atypical" forms of DA. All 14 mutations were missense variants predicted to alter amino acid residues in or near the S5 and S6 pore-forming segments of NALCN, highlighting the functional importance of these segments. In vitro functional studies demonstrated that NALCN alterations nearly abolished the expression of wild-type NALCN, suggesting that alterations that cause CLIFAHDD syndrome have a dominant-negative effect. In contrast, homozygosity for mutations in other regions of NALCN has been reported in three families affected by an autosomal-recessive condition characterized mainly by hypotonia and severe intellectual disability. Accordingly, mutations in NALCN can cause either a recessive or dominant condition characterized by varied though overlapping phenotypic features, perhaps based on the type of mutation and affected protein domain(s). PMID:25683120

  16. The physical stature and bmi values of US Army personnel in 1988.

    PubMed

    Kues, Arne Benjamin

    2008-07-01

    The US Army's 1988 Anthropometric Survey (ANSUR) data set is analysed in order to estimate the secular trend of their physical stature and body mass index while controlling for ethnic composition as well as place of birth of their parents. Separate analysis for blacks and whites stratified by gender is presented. The stature of the American population remained constant during most of the period considered, and no substantial ethnic or spatial effects were found. These results add further support to trends based on the National Health and Nutrition Examination Surveys and imply that the stagnation in height found in those data sets is most probably not biased by the omitted variables pertaining to own ethnicity or second-generation effects of parents' ethnicity or foreign birth. PMID:18211721

  17. Estimation of stature from the foot and its segments in a sub-adult female population of North India

    PubMed Central

    2011-01-01

    Background Establishing personal identity is one of the main concerns in forensic investigations. Estimation of stature forms a basic domain of the investigation process in unknown and co-mingled human remains in forensic anthropology case work. The objective of the present study was to set up standards for estimation of stature from the foot and its segments in a sub-adult female population. Methods The sample for the study constituted 149 young females from the Northern part of India. The participants were aged between 13 and 18 years. Besides stature, seven anthropometric measurements that included length of the foot from each toe (T1, T2, T3, T4, and T5 respectively), foot breadth at ball (BBAL) and foot breadth at heel (BHEL) were measured on both feet in each participant using standard methods and techniques. Results The results indicated that statistically significant differences (p < 0.05) between left and right feet occur in both the foot breadth measurements (BBAL and BHEL). Foot length measurements (T1 to T5 lengths) did not show any statistically significant bilateral asymmetry. The correlation between stature and all the foot measurements was found to be positive and statistically significant (p-value < 0.001). Linear regression models and multiple regression models were derived for estimation of stature from the measurements of the foot. The present study indicates that anthropometric measurements of foot and its segments are valuable in the estimation of stature. Foot length measurements estimate stature with greater accuracy when compared to foot breadth measurements. Conclusions The present study concluded that foot measurements have a strong relationship with stature in the sub-adult female population of North India. Hence, the stature of an individual can be successfully estimated from the foot and its segments using different regression models derived in the study. The regression models derived in the study may be applied successfully for the estimation of stature in sub-adult females, whenever foot remains are brought for forensic examination. Stepwise multiple regression models tend to estimate stature more accurately than linear regression models in female sub-adults. PMID:22104433

  18. Effects of garments on photoanthropometry of body parts: application to stature estimation.

    PubMed

    Scoleri, Tony; Lucas, Teghan; Henneberg, Maciej

    2014-04-01

    Person identification from images is an important task in many security applications and forensic investigations. The essence of the problem comes down to measuring key observable anatomical features which can help describing similarities or differences between two or more individuals. In this paper, we examine how different types of garments affect the placement of body markers that enable precise anatomical human description. We focus in particular on landmark positioning errors on the upper limb. Closed-form formulae are provided to compute the maximum likelihood estimate of upper limb length from an image. Subject stature is then predicted from the limb length through a regression model and used as identification criterion. Following initial laboratory experiments, the technique is demonstrated to be invariant to posture and applicable to uninformed subjects in unconstrained environments. Seven technical errors of measurement and statistical tests are quantified empirically from statures obtained by three assessors. Results show that thicker garments produce higher inaccuracies in landmark localisation but errors decrease as placement is repeated, as expected. Overall, comparison to truth reveals that on average statures are predicted with accuracy in excess of 96% for the worst assessor. PMID:24582408

  19. Estimation of stature from diversified hand anthropometric dimensions from Korean population.

    PubMed

    Jee, Soo-Chan; Yun, Myung Hwan

    2015-10-01

    The anthropometric method has served as a useful tool in reducing the amount of time and effort in confirmation of identity. This study is based on a sample of 321 people (167 males and 154 females) from South Korea. Twenty-nine variables including lengths, breadths, thickness, and circumference of their hands and wrists were measured. The body dimension data were analyzed using descriptive statistics. To find the relationship between the various parts of the hand and height, Pearson correlation coefficients for the parts were compared. Further, the single regression and determination coefficient of a regression estimation equation (R(2)) and standard error of estimate (S.E.E) were calculated to compare prediction reliability. Hand length was found to be the variable with the highest correlation to stature in both males (r = 0.628) and females (r = 0.534). For male subjects, hand length (R(2) = 0.398) and palm length (R(2) = 0.358) proved to be the greatest determining factors for the regression equation. For both males and females, an R-square value of 0.643 was obtained with an estimation error of ±5.719 cm by using the derived multiple regressions. In this study single and multiple regression equations were derived for accurate estimation of stature and hand length was found to be the most relevant predictor of stature. PMID:26344451

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

    PubMed Central

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

    2014-01-01

    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

  1. Estimation of stature by cephalometric facial dimensions in skeletonized bodies: study from a sample modern Colombians skeletal remains.

    PubMed

    González-Colmenares, Gretel; Medina, César Sanabria; Báez, Liliana Carolina

    2016-01-01

    Estimation of stature is an important factor in the identification of the deceased from unknown fragmentary and dismembered remains. The skull sometimes is the only remain available for identification. The aim of the present study was to estimate the stature of an individual from cephalo-facial dimensions. The study was carried out on 54 males and 16 females from the bone collection of the contemporary Colombian population that belongs to the National Institute of Legal Medicine. Ten cephalo-facial measurements were also made on each subject. The stature of each individual in centimeters was taken from the registration and/or from the autopsy document. The results indicate that the measurements N-M (p<0.001) and G-Op, Ba-N, Ma-SN (p<0.05) are correlated with stature for males. The correlation between these measures with stature for females was not significant. However, the formulae obtained from univariate linear regression analysis using cephalo-facial measurements showed a greater degree of reliability for estimation of stature in males and females. PMID:26631845

  2. Estimation of Stature From Hand and Foot Measurements in a Rare Tribe of Kerala State in India

    PubMed Central

    Geetha, GN; Swathi

    2015-01-01

    Introduction The present study has been undertaken on the Vettuvar group of tribes in Kasargod district of Kerala state, and explores the usability of dimensions of hands and feet as predictors of stature in the tribal population of Kasargod District of Kerala, India. The present study is the first ever documented anthropological work on the tribes of Kasargod district, Kerala, India. Materials and Methods Two hundred subjects comprising of 100 males and 100 females in 20-30 years age group were included in the study group. Dimensions of hands and feet viz: hand length, hand breadth, foot length and foot breadth were measured independently on left and right side of each individual using a Sliding calliper. Stature of individuals was measured with the help of a Stadiometer. Results Statistical analysis indicated that the bilateral variations were insignificant for all the measurements except foot breadth among females (p<0.001). The paired sample t-test showed that the statistical difference between males and females was highly significant for all the measurements (p<0.001). The correlation between the stature and various parameters studied in males and females were found to be positive and statistically highly significant. Linear and multiple regression equation for stature estimation were calculated separately for males and females. Conclusion The significant positive correlation between the study variables and the stature indicates that these variables can be successfully used to predict stature. PMID:26557539

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

    ERIC Educational Resources Information Center

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

    2009-01-01

    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…

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

    ERIC Educational Resources Information Center

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

    2005-01-01

    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…

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

    ERIC Educational Resources Information Center

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

    2007-01-01

    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…

  6. Visual-Motor Integration in Children with Prader-Willi Syndrome

    ERIC Educational Resources Information Center

    Lo, S. T.; Collin, P. J. L.; Hokken-Koelega, A. C. S.

    2015-01-01

    Background: Prader-Willi syndrome (PWS) is characterised by hypotonia, hypogonadism, short stature, obesity, behavioural problems, intellectual disability, and delay in language, social and motor development. There is very limited knowledge about visual-motor integration in children with PWS. Method: Seventy-three children with PWS aged 7-17 years…

  7. Decreasing Birth Weight Is Associated with Adverse Metabolic Profile and Lower Stature in Childhood and Adolescence

    PubMed Central

    Derraik, José G. B.; Rowe, Deborah L.; Cutfield, Wayne S.; Hofman, Paul L.

    2015-01-01

    Objective We aimed to evaluate the association of birth weight SDS with insulin resistance, blood pressure, and auxology in children and adolescents born 23–42 weeks of gestation. Methods We studied 143 singleton children and adolescents aged 9.3 ± 3.3 years (range 2.0–17.9 years). Clinical assessments included insulin resistance measured by HOMA2-IR, auxology, and blood pressure from sphygmomanometer measurements. Continuous associations were examined, and stratified analyses carried out. For the latter, participants were divided into those of below-average birth weight (BABW, <0 SDS) and above-average birth weight (AABW, ?0 SDS). Results Irrespective of gestational age, lower birth weight SDS was associated with progressively greater HOMA2-IR (p<0.0001) and higher fasting insulin concentrations (p<0.0001). Decreasing birth weight SDS was associated with higher systolic (p = 0.011) and diastolic (p = 0.006) blood pressure. Lower birth weight SDS was also associated with decreasing stature (p<0.010). The BABW group was ~40% more insulin resistant than AABW participants (p = 0.004), with the former also displaying fasting insulin concentrations 37% higher (p = 0.004). BABW participants were 0.54 SDS shorter than those of higher birth weight (p = 0.002). On average, BABW participants had not met their genetic potential, tending to be shorter than their parents (p = 0.065). As a result, when corrected for parents' heights, BABW participants were 0.62 SDS shorter than those born of higher birth weight (p = 0.001). Sub-group analyses on participants born appropriate-for-gestational-age (n = 128) showed that associations of birth weight SDS with both insulin resistance and stature remained (although attenuated). Conclusion Decreasing birth weight SDS (even within the normal range) is associated with adverse metabolic profile and lower stature in children and adolescents. PMID:25760717

  8. Anthropometric measurements of the arm span and their correlation with the stature of bangladeshi adult muslim females.

    PubMed

    Laila, S Z; Begum, J A; Ferdousi, R; Parveen, S; Husain, M S; Holy, S Z; Islam, M S

    2010-10-01

    Anthropometry is the science that deals with the measurement of size, weight and proportion of the human body. Stature is natural heights of a person in an upright position. This can be estimated from arm span length. In the last 50 years of the 20th century various mass disasters such as different powerful storm, flood, plane crash, train accident was increased. Very recently in Chittagong and southern Bangladesh many people were killed through land slides and Seder. As so many disasters were occurring it is possible to identify a missing person if a part of his or her body is available. The arm span lengths can be used as a basis for estimating age-related loss in stature and as an alternative measure to stature. The study was done for the estimation of stature from the arm span on one hundred and fifty Bangladeshi adult Muslim females. Subject was collected from Bangabandhu Sheikh Mujib Medical University, Dhaka and some urban region of Dhaka, Bangladesh. The present study showed significant (p<0.001) positive correlation between the stature and the arm span. PMID:20956900

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

    PubMed

    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

    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

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

    PubMed

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

    2014-01-01

    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

  11. Small-stature emergent macrophytes and crepuscular sprinkler disturbance reduce mosquito abundance in wetland mesocosms.

    PubMed

    Popko, David A; Walton, William E

    2013-12-01

    The impact of emergent macrophyte species and crepuscular sprinkler disturbance on mosquito abundance over a 2-year period was measured in wetland mesocosms. Mosquito oviposition and abundance of immature mosquitoes and aquatic invertebrates were monitored in monotypic plots of small-stature (height of mature stands <1.5 m) alkali bulrush (Schoenoplectus maritimus) and large-stature (height of mature stands > 2 m) California bulrush (Schoenoplectus californicus) without or with daily sprinkler showers to deter mosquito egg laying. Relative to wetlands without operational sprinklers, oviposition by culicine mosquitoes was reduced by > 99% and immature mosquito abundance was reduced by > 90% by crepuscular sprinkler applications. Mosquito abundance or distribution in wetlands did not differ between the two bulrush species subjected to the sprinkler treatment. Alkali bulrush wetlands without daily sprinkler treatments contained more egg rafts but significantly fewer mosquito larvae than did California bulrush wetlands. Predaceous damselfly naiads were 3-5 times more abundant in alkali bulrush than in California bulrush. Stem density, rate of spread, and autumnal mortality of alkali bulrush were higher than for California bulrush. Replacement of large emergent macrophytes by smaller species may enhance the efficacy of integrated mosquito management programs to reduce mosquito-transmitted disease cycles associated with multipurpose constructed wetlands used worldwide for water reclamation and habitat restoration. PMID:24581369

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

    PubMed

    Ward, W Peter

    2013-12-01

    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

  13. Estimating aboveground biomass of low-stature Arctic shrubs with terrestrial LiDAR

    NASA Astrophysics Data System (ADS)

    Greaves, H.; Vierling, L. A.; Eitel, J.; Boelman, N.; Griffin, K. L.; Magney, T. S.

    2014-12-01

    Arctic tundra ecosystems appear to be responding to rapid climatic warming via changes in vegetation composition and increased woody biomass, which may induce significant shifts in ecosystem structure and function. Although understanding these shifts is important for predicting ecosystem trajectories, establishing methods for quantifying and scaling woody plant biomass in low-stature biomes is challenging. We used LiDAR data from a terrestrial laser scanner (TLS) to estimate harvested biomass and leaf area of two dominant low-stature (<1.5 m) Arctic shrub species (Salix pulchra Cham. and Betula nana L.) in small (0.64 m2) plots. We explored two biomass estimation approaches (volumetric surface differencing and voxel counting) applied to point clouds obtained from either close-range (2 m) or variable-range (<50 m) TLS scans. Relationships between harvested biomass and laser scan metrics were strong for all combinations of approaches. Voxel counting provided a marginally better result than surface differencing for close-range scans (R2 = 0.94 vs 0.92; RMSE = 102 g vs 117 g), while surface differencing proved stronger than voxel counting for variable-range scans (R2 = 0.90 vs 0.79; RMSE = 128 g vs 184 g). Strong relationships between total harvested biomass and total leaf dry mass (R2 = 0.93; RMSE = 13.4 g), and between leaf dry mass and leaf wet area (R2 = 0.99; RMSE = 9.01 cm2) justify estimation of shrub leaf area from TLS-derived shrub biomass. Our results show that rapidly acquired, repeatable terrestrial laser scans taken from multiple distance ranges can be processed using simple algorithms to yield aboveground biomass and leaf area estimates for low-stature shrubs at fine spatial scales (sub-meter to 50 + meters). These data have the fidelity required to monitor small but ecologically meaningful changes in tundra structure, and could be employed as ground reference data for broader scale remote sensing data collection to provide shrub biomass and leaf-area estimates at fine resolution over large spatial extents.

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

    ERIC Educational Resources Information Center

    Lynn, Richard

    2010-01-01

    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…

  15. On the relationship between stature and anthropometric measurements of lumbar vertebrae.

    PubMed

    Klein, Anke; Nagel, Katrin; Gührs, Julian; Poodendaen, Chanasorn; Püschel, Klaus; Morlock, Michael M; Huber, Gerd

    2015-12-01

    Stature estimation is important for identifying human remains. Analysis of body parts has become an important forensic tool during global operations in the context of cases in which human remains have been dismembered, mutilated or decomposed. However, unless almost the full skeleton or at least a long bone of the lower limb is available, accuracy is still limited to approximate body height. Especially with respect to single vertebral measurements, only a rough prediction is possible. Due to their complex geometry, vertebral measurements are possible at various locations. Nine locations have been considered in this study. Regression equations for stature estimation using lumbar vertebral geometry from computed tomography scans have been evaluated to identify the measurement which gives the most reliable body height estimation. The study group comprised a representative sample of a German metropolitan male population (42 autopsied individuals). Comparing the influence of various vertebral geometry measurements with body height resulted in a coefficient of correlation (R) of 0.19-0.53 and a 95% confidence interval (CI) of ±11.6 up to ±13.1cm. The largest correlation with a single vertebral measurement was achieved with the central height of the vertebral body of L2 as predictor; the standard error (SE) of the estimate was 5.9cm. Using models from CT scans appeared superior to current invasive procedures that use direct measurements of the vertebral body, in terms of reproducibility and time efficiency. For fragmented non-skeletonized human bodies, height prediction based on an all-virtual model of the vertebrae is possible. However, the regression coefficient may be similar to classic caliper measurements that prove easier if skeletonized bones are available. PMID:26654071

  16. Genetics of coronary artery disease: Short people at risk?

    PubMed

    Trenkwalder, Teresa; Kessler, Thorsten; Schunkert, Heribert; Erdmann, Jeanette

    2015-11-01

    Traditional cardiovascular risk factors have been in the spotlight for coronary artery disease (CAD) management over the past decades. A non-modifiable risk marker is short adult stature. However, a causal role in the etiology of CAD was always questioned, since multiple confounders may also explain the inverse association between height and CAD risk. The assumption that genetic variants affecting height do so without interference of exogenous factors allows for the testing of the association between short stature, that is, genetic markers affecting height, and CAD even without measuring height. Interestingly, these studies suggest a rather multifaceted relationship between the two complex phenotypes. Indeed, investigating 180 height-associated genetic variants in 65,066 patients with CAD and 128,383 healthy controls suggests a causal relationship of short stature and CAD risk. Multiple signaling pathways affecting growth, as well as pleiotropic effects of genetic variants affecting height and lipids, seem to underlie the association between height and CAD risk. PMID:26414801

  17. A missense mutation in PPP1R15B causes a syndrome including diabetes, short stature and microcephaly

    E-print Network

    Abdulkarim, Baroj; Nicolino, Marc; Esteve, Mariana Igoillo; Daures, Mathilde; Romero, Sophie; Philippi, Anne; Senée, Valérie; Lopes, Miguel; Cunha, Daniel A.; Harding, Heather P.; Derbois, Céline; Bendelac, Nathalie; Hattersley, Andrew T.; Eizirik, Décio L.; Ron, David; Cnop, Miriam; Julier, Cécile

    2015-07-09

    33342 (5 µg/ml; Sigma- Aldrich) and propidium iodide (5 µg/ml) staining (28;30). Glucose-stimulated insulin secretion Insulin secretion was measured as described (22). Briefly, INS-1E cells were washed with modified Krebs-Ringer bicarbonate HEPES... epithelial cells and erythroleukemia cells (35). Knockdown of PPP1R15B in breast cancer cells resulted in impaired cell cycle transition from G1 to S phase and apoptosis (44). These observations suggest that PPP1R15B regulates a variety of functions...

  18. Microcephaly, short stature, and developmental delay associated with a chemotactic defect and transient hypogammaglobulinaemia in two brothers.

    PubMed Central

    Say, B; Barber, N; Miller, G C; Grogg, S E

    1986-01-01

    Two brothers presented with unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation. They both developed eczema in infancy and have had recurrent infections. Additional physical findings in both boys included hypogonadism, flexion contractures, hypoplastic patellae, and scoliosis. Their facial similarity was striking with sloping foreheads, beaked noses, large, protruding ears, and micrognathia. Low levels of serum gammaglobulins and defective chemotaxis were present in both boys in infancy. The hypogammaglobulinaemia was transient and improved, reaching normal levels by 3 1/2 years and 15 months, respectively. Defective chemotaxis and recurrent infections have persisted to the present. Both parents were normal. The mode of inheritance was not clear, as both X linked and autosomal recessive patterns were possible. Although patients with congenital malformations who also had immunodeficiency have previously been reported, immune system abnormalities, especially those of a transient nature, may frequently go unrecognised. Images PMID:3746838

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

    ERIC Educational Resources Information Center

    Yanagisawa, S.; Hiraoka, K.

    1971-01-01

    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)

  20. Transgenic Wuzhishan minipigs designed to express a dominant-negative porcine growth hormone receptor display small stature and a perturbed insulin/IGF-1 pathway.

    PubMed

    Li, Feida; Li, Yong; Liu, Huan; Zhang, Xingju; Liu, Chuxin; Tian, Kai; Bolund, Lars; Dou, Hongwei; Yang, Wenxian; Yang, Huanming; Staunstrup, Nicklas Heine; Du, Yutao

    2015-12-01

    Growth hormone (GH) is an anabolic mitogen with widespread influence on cellular growth and differentiation as well as on glucose and lipid metabolism. GH binding to the growth hormone receptor (GHR) on hepatocytes prompts expression of insulin growth factor I (IGF-1) involved in nutritionally induced compensatory hyperplasia of pancreatic ?-cell islets and insulin release. A prolonged hyperactivity of the IGF-1/insulin axis in the face of insulinotropic nutrition, on the other hand, can lead to collapse of the pancreatic islets and glucose intolerance. Individuals with Laron syndrome carry mutations in the GHR gene resulting in severe congenital IGF-1 deficiency and elevated GH serum levels leading to short stature as well as perturbed lipid and glucose metabolism. However, these individuals enjoy a reduced prevalence of acne, cancer and possibly diabetes. Minipigs have become important biomedical models for human conditions due to similarities in organ anatomy, physiology, and metabolism relative to humans. The purpose of this study was to generate transgenic Wuzhishan minipigs by handmade cloning with impaired systemic GHR activity and assess their growth profile and glucose metabolism. Transgenic minipigs featuring overexpression of a dominant-negative porcine GHR (GHR(dm)) presented postnatal growth retardation and proportionate dwarfism. Molecular changes included elevated GH serum levels and mild hyperglycemia. We believe that this model may prove valuable in the study of GH functions in relation to cancer, diabetes and longevity. PMID:26510874

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

    PubMed

    de Oliveira, Victor Hugo; Quintana-Domeque, Climent

    2014-12-01

    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

  2. An evolutionary model of stature, age at first birth and reproductive success in Gambian women.

    PubMed

    Allal, N; Sear, R; Prentice, A M; Mace, R

    2004-03-01

    We have built a model to predict optimal age at first birth for women in a natural fertility population. The only existing fully evolutionary model, based on Ache hunter-gatherers, argues that as women gain weight, their fertility (rate of giving birth) increases-thus age at first birth represents a trade-off between time allocated to weight gain and greater fertility when mature. We identify the life-history implications of female age at first birth in a Gambian population, using uniquely detailed longitudinal data collected from 1950 to date. We use height rather than weight as an indicator of growth as it is more strongly correlated with age at first birth. Stature does not greatly influence fertility in this population but has a significant effect on offspring mortality. We model age at first reproduction as a trade-off between the time spent growing and reduced infant mortality after maturation. Parameters derived from this population are fitted to show that the predicted optimal mean age of first birth, which maximizes reproductive success, is 18 years, very close to that observed. The reaction norm associated with variation in growth rate during childhood also satisfactorily predicts the variation in age at first birth. PMID:15129955

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

    PubMed

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

    2014-09-01

    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

  4. Growth in stature in fragile X families: A mixed longitudinal study

    SciTech Connect

    Loesch, D.Z.; Huggins, R.M.; Hoang, N.H.

    1995-09-11

    The effect of fragile X on growth in stature was estimated in individuals aged 5-20 years from 50 fragile X families. The multivariate normal model for pedigree analysis was applied to the mixed longitudinal data, which varied with regard to intervals between the measurements and their number in individual subjects, totalling 349 measurement data points from fragile X families, and 292 data points from unrelated normal subjects. The results of genetic and regression analysis showed that, in fragile X boys and girls, total pubertal height gain is impaired, whereas the rate of growth during the preadolescent period is increased, compared with the growth rate of nonfragile X subjects. Moreover, the growth parameters in fragile X males were found to be correlated with the size of CGG trinucleotide expansion. The hypothesis of premature activation of the hypothalamo-pituitary gonadal axis is postulated as the cause of growth impairment in fragile X boys and girls, which should be verified by data on the timing of pubertal stages, hormone levels, and bone maturation. 33 refs., 2 figs., 3 tabs.

  5. Mate choice and human stature: homogamy as a unified framework for understanding mating preferences.

    PubMed

    Courtiol, Alexandre; Raymond, Michel; Godelle, Bernard; Ferdy, Jean-Baptiste

    2010-08-01

    Assortative mating for human height has long attracted interest in evolutionary biology, and the phenomenon has been demonstrated in numerous human populations. It is often argued that mating preferences generate this pattern, but other processes can also induce trait correlations between mates. Here, we present a methodology tailored to quantify continuous preferences based on choice experiments between pairs of stimuli. In particular, it is possible to explore determinants of interindividual variations in preferences, such as the height of the chooser. We collected data from a sample of 200 individuals from France. Measurements obtained show that the perception of attractiveness depends on both the height of the stimuli and the stature of the individual who judged them. Therefore, this study demonstrates that homogamy is present at the level of preferences for both sexes. We also show that measurements of the function describing this homogamy are concordant with several distinct mating rules proposed in the literature. In addition, the quantitative approach introduced here fulfills metrics that can be used to compare groups of individuals. In particular, our results reveal an important disagreement between sexes regarding height preferences in the context of mutual mate choice. Finally, both women and men prefer individuals who are significantly taller than average. All major findings are confirmed by a reanalysis of previously published data. PMID:20199563

  6. Facial Indices of North and South Indian Adults: Reliability in Stature Estimation and Sexual Dimorphism

    PubMed Central

    LC, Prasanna; S, Bhosale; AS, D’Souza; H, Mamatha; RH, Thomas; KS, Sachin

    2013-01-01

    Introduction: Anthropological studies have document differences in craniofacial features as well as in body characteristics among different populations. The variations in the facial morphology arise through a differential growth and they help us in distinguishing one person from another. These are controlled by a number of factors which include genetic heritage, climate and environment in which we live. Very few researchers from India have worked on these facial features with respect to population and environment. The present work was undertaken to determine whether facial variations were subjected to sexual dimorphism. In addition, comparison of facial indices was made, in order to determine possible variations between south and north Indian populations. Methods: The sample consisted of 200 individuals, 100 each from north and south Indian regions. Various facial parameters were determined on the basis of international anatomical description and facial indices were calculated. Results: North Indian males and females had highest facial height and upper facial height. Facial width of south Indians was more as compared to that of north Indians in both sexes. Regression equation was calculated to compare the probable height with actual height. Conclusion: All the facial parameters and facial indices were found to be statistically highly significant and they showed inter-regional and gender variations. These indices will be beneficial in facial reconstruction surgeries, maxillofacial surgeries, and in forensic medicine, for estimating the stature and sex of an individual. PMID:24086833

  7. Mutation accumulation in real branches: fitness assays for genomic deleterious mutation rate and effect in large-statured plants.

    PubMed

    Schultz, Stewart T; Scofield, Douglas G

    2009-08-01

    The genomic deleterious mutation rate and mean effect are central to the biology and evolution of all species. Large-statured plants, such as trees, are predicted to have high mutation rates due to mitotic mutation and the absence of a sheltered germ line, but their size and generation time has hindered genetic study. We develop and test approaches for estimating deleterious mutation rates and effects from viability comparisons within the canopy of large-statured plants. Our methods, inspired by E. J. Klekowski, are a modification of the classic Bateman-Mukai mutation-accumulation experiment. Within a canopy, cell lineages accumulate mitotic mutations independently. Gametes or zygotes produced at more distal points by these cell lineages contain more mitotic mutations than those at basal locations, and within-flower selfs contain more homozygous mutations than between-flower selfs. The resulting viability differences allow demonstration of lethal mutation with experiments similar in size to assays of genetic load and allow estimates of the rate and effect of new mutations with moderate precision and bias similar to that of classic mutation-accumulation experiments in small-statured organisms. These methods open up new possibilities with the potential to provide valuable new insights into the evolutionary genetics of plants. PMID:19548838

  8. Directional dominance on stature and cognition in diverse human populations.

    PubMed

    Joshi, Peter K; Esko, Tonu; Mattsson, Hannele; Eklund, Niina; Gandin, Ilaria; Nutile, Teresa; Jackson, Anne U; Schurmann, Claudia; Smith, Albert V; Zhang, Weihua; Okada, Yukinori; Stan?áková, Alena; Faul, Jessica D; Zhao, Wei; Bartz, Traci M; Concas, Maria Pina; Franceschini, Nora; Enroth, Stefan; Vitart, Veronique; Trompet, Stella; Guo, Xiuqing; Chasman, Daniel I; O'Connel, Jeffrey R; Corre, Tanguy; Nongmaithem, Suraj S; Chen, Yuning; Mangino, Massimo; Ruggiero, Daniela; Traglia, Michela; Farmaki, Aliki-Eleni; Kacprowski, Tim; Bjonnes, Andrew; van der Spek, Ashley; Wu, Ying; Giri, Anil K; Yanek, Lisa R; Wang, Lihua; Hofer, Edith; Rietveld, Cornelius A; McLeod, Olga; Cornelis, Marilyn C; Pattaro, Cristian; Verweij, Niek; Baumbach, Clemens; Abdellaoui, Abdel; Warren, Helen R; Vuckovic, Dragana; Mei, Hao; Bouchard, Claude; Perry, John R B; Cappellani, Stefania; Mirza, Saira S; Benton, Miles C; Broeckel, Ulrich; Medland, Sarah E; Lind, Penelope A; Malerba, Giovanni; Drong, Alexander; Yengo, Loic; Bielak, Lawrence F; Zhi, Degui; van der Most, Peter J; Shriner, Daniel; Mägi, Reedik; Hemani, Gibran; Karaderi, Tugce; Wang, Zhaoming; Liu, Tian; Demuth, Ilja; Zhao, Jing Hua; Meng, Weihua; Lataniotis, Lazaros; van der Laan, Sander W; Bradfield, Jonathan P; Wood, Andrew R; Bonnefond, Amelie; Ahluwalia, Tarunveer S; Hall, Leanne M; Salvi, Erika; Yazar, Seyhan; Carstensen, Lisbeth; de Haan, Hugoline G; Abney, Mark; Afzal, Uzma; Allison, Matthew A; Amin, Najaf; Asselbergs, Folkert W; Bakker, Stephan J L; Barr, R Graham; Baumeister, Sebastian E; Benjamin, Daniel J; Bergmann, Sven; Boerwinkle, Eric; Bottinger, Erwin P; Campbell, Archie; Chakravarti, Aravinda; Chan, Yingleong; Chanock, Stephen J; Chen, Constance; Chen, Y-D Ida; Collins, Francis S; Connell, John; Correa, Adolfo; Cupples, L Adrienne; Smith, George Davey; Davies, Gail; Dörr, Marcus; Ehret, Georg; Ellis, Stephen B; Feenstra, Bjarke; Feitosa, Mary F; Ford, Ian; Fox, Caroline S; Frayling, Timothy M; Friedrich, Nele; Geller, Frank; Scotland, Generation; Gillham-Nasenya, Irina; Gottesman, Omri; Graff, Misa; Grodstein, Francine; Gu, Charles; Haley, Chris; Hammond, Christopher J; Harris, Sarah E; Harris, Tamara B; Hastie, Nicholas D; Heard-Costa, Nancy L; Heikkilä, Kauko; Hocking, Lynne J; Homuth, Georg; Hottenga, Jouke-Jan; Huang, Jinyan; Huffman, Jennifer E; Hysi, Pirro G; Ikram, M Arfan; Ingelsson, Erik; Joensuu, Anni; Johansson, Åsa; Jousilahti, Pekka; Jukema, J Wouter; Kähönen, Mika; Kamatani, Yoichiro; Kanoni, Stavroula; Kerr, Shona M; Khan, Nazir M; Koellinger, Philipp; Koistinen, Heikki A; Kooner, Manraj K; Kubo, Michiaki; Kuusisto, Johanna; Lahti, Jari; Launer, Lenore J; Lea, Rodney A; Lehne, Benjamin; Lehtimäki, Terho; Liewald, David C M; Lind, Lars; Loh, Marie; Lokki, Marja-Liisa; London, Stephanie J; Loomis, Stephanie J; Loukola, Anu; Lu, Yingchang; Lumley, Thomas; Lundqvist, Annamari; Männistö, Satu; Marques-Vidal, Pedro; Masciullo, Corrado; Matchan, Angela; Mathias, Rasika A; Matsuda, Koichi; Meigs, James B; Meisinger, Christa; Meitinger, Thomas; Menni, Cristina; Mentch, Frank D; Mihailov, Evelin; Milani, Lili; Montasser, May E; Montgomery, Grant W; Morrison, Alanna; Myers, Richard H; Nadukuru, Rajiv; Navarro, Pau; Nelis, Mari; Nieminen, Markku S; Nolte, Ilja M; O'Connor, George T; Ogunniyi, Adesola; Padmanabhan, Sandosh; Palmas, Walter R; Pankow, James S; Patarcic, Inga; Pavani, Francesca; Peyser, Patricia A; Pietilainen, Kirsi; Poulter, Neil; Prokopenko, Inga; Ralhan, Sarju; Redmond, Paul; Rich, Stephen S; Rissanen, Harri; Robino, Antonietta; Rose, Lynda M; Rose, Richard; Sala, Cinzia; Salako, Babatunde; Salomaa, Veikko; Sarin, Antti-Pekka; Saxena, Richa; Schmidt, Helena; Scott, Laura J; Scott, William R; Sennblad, Bengt; Seshadri, Sudha; Sever, Peter; Shrestha, Smeeta; Smith, Blair H; Smith, Jennifer A; Soranzo, Nicole; Sotoodehnia, Nona; Southam, Lorraine; Stanton, Alice V; Stathopoulou, Maria G; Strauch, Konstantin; Strawbridge, Rona J; Suderman, Matthew J; Tandon, Nikhil; Tang, Sian-Tsun; Taylor, Kent D; Tayo, Bamidele O; Töglhofer, Anna Maria; Tomaszewski, Maciej; Tšernikova, Natalia; Tuomilehto, Jaakko; Uitterlinden, Andre G; Vaidya, Dhananjay; van Hylckama Vlieg, Astrid; van Setten, Jessica; Vasankari, Tuula; Vedantam, Sailaja; Vlachopoulou, Efthymia; Vozzi, Diego; Vuoksimaa, Eero; Waldenberger, Melanie; Ware, Erin B; Wentworth-Shields, William; Whitfield, John B; Wild, Sarah; Willemsen, Gonneke; Yajnik, Chittaranjan S; Yao, Jie; Zaza, Gianluigi; Zhu, Xiaofeng; Salem, Rany M; Melbye, Mads; Bisgaard, Hans; Samani, Nilesh J; Cusi, Daniele; Mackey, David A

    2015-07-23

    Homozygosity has long been associated with rare, often devastating, Mendelian disorders, and Darwin was one of the first to recognize that inbreeding reduces evolutionary fitness. However, the effect of the more distant parental relatedness that is common in modern human populations is less well understood. Genomic data now allow us to investigate the effects of homozygosity on traits of public health importance by observing contiguous homozygous segments (runs of homozygosity), which are inferred to be homozygous along their complete length. Given the low levels of genome-wide homozygosity prevalent in most human populations, information is required on very large numbers of people to provide sufficient power. Here we use runs of homozygosity to study 16 health-related quantitative traits in 354,224 individuals from 102 cohorts, and find statistically significant associations between summed runs of homozygosity and four complex traits: height, forced expiratory lung volume in one second, general cognitive ability and educational attainment (P < 1 × 10(-300), 2.1 × 10(-6), 2.5 × 10(-10) and 1.8 × 10(-10), respectively). In each case, increased homozygosity was associated with decreased trait value, equivalent to the offspring of first cousins being 1.2 cm shorter and having 10 months' less education. Similar effect sizes were found across four continental groups and populations with different degrees of genome-wide homozygosity, providing evidence that homozygosity, rather than confounding, directly contributes to phenotypic variance. Contrary to earlier reports in substantially smaller samples, no evidence was seen of an influence of genome-wide homozygosity on blood pressure and low density lipoprotein cholesterol, or ten other cardio-metabolic traits. Since directional dominance is predicted for traits under directional evolutionary selection, this study provides evidence that increased stature and cognitive function have been positively selected in human evolution, whereas many important risk factors for late-onset complex diseases may not have been. PMID:26131930

  9. Stature, body mass, and brain size: a two-million-year odyssey.

    PubMed

    Gallagher, Andrew

    2013-12-01

    Physical size has been critical in the evolutionary success of the genus Homo over the past 2.4 million-years. An acceleration in the expansion of savannah grasslands in Africa from 1.6Ma to 1.2Ma witnessed concomitant increases in physical stature (150-170cm), weight (50-70kg), and brain size (750-900cm(3)). With the onset of 100,000year Middle Pleistocene glacial cycles ("ice ages") some 780,000years ago, large-bodied Homo groups had reached modern size and had successfully dispersed from equatorial Africa, Central, and Southeast Asia to high-latitude localities in Atlantic Europe and North East Asia. While there is support for incursions of multiple Homo lineages to West Asia and Continental Europe at this time, data does not favour a persistence of Homo erectus beyond ?400,000years ago in Africa, west and Central Asia, and Europe. Novel Middle Pleistocene Homo forms (780,000-400,000years) may not have been substantially taller (150-170cm) than earlier Homo (1.6Ma-800,000years), yet brain size exceeded 1000cm(3) and body mass approached 80kg in some males. Later Pleistocene Homo (400,000-138,000years) were 'massive' in their height (160-190cm) and mass (70-90kg) and consistently exceed recent humans. Relative brain size exceeds earlier Homo, yet is substantially lower than in final glacial H. sapiens and Homo neanderthalensis. A final leap in absolute and relative brain size in Homo (300,000-138,000years) occurred independent of any observed increase in body mass and implies a different selective mediator to that operating on brain size increases observed in earlier Homo. PMID:23562520

  10. Advantage of knee height over height as an index of stature in expression of body composition in adults.

    PubMed

    Roubenoff, R; Wilson, P W

    1993-05-01

    It is not clear how body composition should best be compared between subjects, but it is accepted that simply comparing total mass or percentage fat-free mass (FFM) or fat mass (FM) is not adequate. Indexing body composition to stature seems more appropriate, but the decline in height with age or osteoporosis could confound comparisons of body composition across age or disease groups. Using bioimpedance data from 600 adults in the Framingham Offspring Study, we examined the ability of height and knee height indexes to correctly describe the loss of FFM seen with increasing age between 28 and 75 y. Indexing body composition to height obscured the loss of FFM with age (r = -0.065, P < 0.26 for men; r = -0.050, P < 0.394 for women), whereas indexing body composition to knee height preserved the correct information (r = -0.154, P < 0.007 for men; r = -0.161, P < 0.006 for women). These data suggest that knee height is a reliable surrogate for stature and should be used to adjust body composition measurements when bioimpedance is used to estimate body composition. PMID:8480674

  11. Growth Retardation, General Hypotonia, and Loss of Acquired Neuromotor Skills in the Infants of Mothers With Cobalamin Deficiency and the Possible Role of Succinyl-CoA and Glycine in the Pathogenesis

    PubMed Central

    Bicakci, Zafer

    2015-01-01

    Abstract Vitamin B12 (cobalamin, Cbl) deficiency can cause metabolic, hematological, and neurological abnormalities. Adequate levels of succinyl-coenzyme A (CoA) cannot be synthesized from methylmalonyl-CoA because of the decreased activity of the methylmalonyl-CoA mutase enzyme that uses Cbl as the cofactor. Succinyl-CoA synthesis deficiency leads to decreased heme synthesis and gluconeogenesis. The reason of growth retardation can be gluconeogenesis deficiency together with heme synthesis deficiency whereas the reason of the neurological abnormalities can be glycine increase in the tissue due to decreased heme synthesis. We present 7 infants diagnosed with severe nutritional Cbl deficiency and discuss the role of succinyl-CoA and glycine in the possible pathogenesis in this article. Patients brought to our clinic with a complaint of growth retardation and diagnosed with nutritional Cbl deficiency were included in the study. There were 5 females and 2 males. The mean age was 11?±?2.30 (range 6–13) months. All patients had general muscular hypotonia and 4 had growth retardation. Neuromotor growth retardation was found in 4 of the children who had previously shown normal neuromotor development for age. The mean Cbl level was 83.8?±?27.6 (45.6–114)?pg/mL. The mean Cbl level of the mothers was 155?±?56.6 (88–258)?pg/mL. Six of the patients had anemia and 1 had thrombocytopenia. Mean corpuscular volume value was 91.5?±?12.2?fL. Following treatment, the muscle tonus of the patients improved, the anemia and growth retardation decreased, and the lost neuromotor abilities were recovered. Severe nutritional Cbl deficiency is an important nutritional disease where complications can be prevented with early treatment. When evaluating the pathogenesis, it should be noted that nutritional Cbl deficiency is a succinyl-CoA synthesis deficiency. PMID:25738478

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

    PubMed

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

    2014-12-01

    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

  13. Stature estimation based on radial and ulnar lengths using three-dimensional images from multidetector computed tomography in a Japanese population.

    PubMed

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

    2014-07-01

    The aim of our study was to evaluate correlations between cadaver stature (CS) and radial and ulnar lengths based on three-dimensional (3D) computed tomography (CT) images, and to develop modern regression equations for estimating CS in a Japanese population. Measurements were performed on 245 Japanese subjects (123 males and 122 females) who underwent postmortem CT between May 2011 and December 2013. A 3D reconstructed image was used for assessment. The linear distances of the left radial (LR) and right radial (RR) lengths were measured as a straight-line distance from the most anteroproximal point of the head to the most distal end of the styloid process. The linear distances of the left ulnar (LU) and right ulnar (RU) lengths were measured as a straight-line distance from the most posteroproximal point of the olecranon to the most distal end of the styloid process. The correlation between CS and each parameter (LR, LU, RR, and RU) was assessed using Pearson product-moment correlation coefficients and regression analysis was performed for stature estimation. There were significant correlations between CS and each parameter regardless of sex, indicating that the radial and ulnar lengths measured on 3D CT images can be predictive of stature estimation. Simple regression equations for stature estimation calculated from LR provided the lowest standard error of estimation (SEE) (all subjects, SEE=4.18 cm; males, SEE=4.09 cm; females, SEE=4.21 cm). In addition, multiple regression equations were more accurate and reliable than the single linear regression equations. PMID:24650584

  14. Body height preferences and actual dimorphism in stature between partners in two non-Western societies (Hadza and Tsimane').

    PubMed

    Sorokowski, Piotr; Sorokowska, Agnieszka; Butovskaya, Marina; Stulp, Gert; Huanca, Tomas; Fink, Bernhard

    2015-01-01

    Body height influences human mate preferences and choice. A typical finding in Western societies is that women prefer men who are taller than themselves and, equivalently, men prefer women who are shorter than themselves. However, recent reports in non-Western societies (e.g., the Himba in Namibia) challenge the view on the universality of such preferences. Here we report on male and female height preferences in two non-Western populations--the Hadza (Tanzania) and the Tsimane' (Bolivia)--and the relationships between body height preferences and the height of actual partners. In the Hadza, most individuals preferred a sexual dimorphism in stature (SDS) with the man being much taller than the woman. Preferences for SDS and actual partner SDS were positively and significantly correlated in both men and women, suggesting that people who preferred larger height differences also had larger height differences with their partners. In the Tsimane', the majority of men preferred an SDS with the man being taller than the woman, but women did not show such a preference. Unlike in the Hadza, SDS preference was not significantly correlated to actual partner SDS. We conclude that patterns of height preferences and choices in the Hadza and Tsimane' are different than those observed in Western societies, and discuss possible causes for the observed differences between non-Western and Western societies. PMID:26079105

  15. Hominin stature, body mass, and walking speed estimates based on 1.5 million-year-old fossil footprints at Ileret, Kenya.

    PubMed

    Dingwall, Heather L; Hatala, Kevin G; Wunderlich, Roshna E; Richmond, Brian G

    2013-06-01

    The early Pleistocene marks a period of major transition in hominin body form, including increases in body mass and stature relative to earlier hominins. However, because complete postcranial fossils with reliable taxonomic attributions are rare, efforts to estimate hominin mass and stature are complicated by the frequent albeit necessary use of isolated, and often fragmentary, skeletal elements. The recent discovery of 1.52 million year old hominin footprints from multiple horizons in Ileret, Kenya, provides new data on the complete foot size of early Pleistocene hominins as well as stride lengths and other characteristics of their gaits. This study reports the results of controlled experiments with habitually unshod Daasanach adults from Ileret to examine the relationships between stride length and speed, and also those between footprint size, body mass, and stature. Based on significant relationships among these variables, we estimate travel speeds ranging between 0.45 m/s and 2.2 m/s from the fossil hominin footprint trails at Ileret. The fossil footprints of seven individuals show evidence of heavy (mean = 50.0 kg; range: 41.5-60.3 kg) and tall individuals (mean = 169.5 cm; range: 152.6-185.8 cm), suggesting that these prints were most likely made by Homo erectus and/or male Paranthropus boisei. The large sizes of these footprints provide strong evidence that hominin body size increased during the early Pleistocene. PMID:23522822

  16. Academic achievement and psychological adjustment in short children. The National Cooperative Growth Study.

    PubMed

    Stabler, B; Clopper, R R; Siegel, P T; Stoppani, C; Compton, P G; Underwood, L E

    1994-02-01

    Limited information is available on the educational and behavioral functioning of short children. Through 27 participating medical centers, we administered a battery of psychologic tests to 166 children referred for growth hormone (GH) treatment (5 to 16 years) who were below the third percentile for height (mean height = -2.7 SD). The sample consisted of 86 children with isolated growth-hormone deficiency (GHD) and 80 children with idiopathic short stature (ISS). Despite average intelligence, absence of significant family dysfunction, and advantaged social background, a large number of children had academic underachievement. Both groups showed significant discrepancy (p < .01) between IQ and achievement scores in reading (6%), spelling (10%), and arithmetic (13%) and a higher-than-expected rate of behavior problems (GHD, 12%, p < .0001; ISS, 10%, p < .0001). Behavior problems included elevated rates of internalizing behavior (e.g., anxiety, somatic complaints) and externalizing behavior (e.g., impulsive, distractable, attention-seeking). Social competence was reduced in school-related activities for GHD patients (6%, p < .03). The high frequency of underachievement, behavior problems, and reduced social competency in these children suggests that short stature itself may predispose them to some of their difficulties. Alternately, parents of short, underachieving children may be more likely to seek help. In addition, some problems may be caused by factors related to specific diagnoses. PMID:8195431

  17. Autosomal recessive Oliver-McFarlane syndrome: retinitis pigmentosa, short stature (GH deficiency), trichomegaly, and hair anomalies or CPD syndrome (chorioretinopathy-pituitary dysfunction).

    PubMed

    Haimi, Motti; Gershoni-Baruch, Ruth

    2005-10-15

    We describe a brother and sister with retinitis pigmentosa (RP), growth failure, long eyelashes, and sparse hair. They were born to young healthy consanguineous parents and presented at birth with IUGR. Evolving pigmentary retinopathy was diagnosed at the age of 5 years. A similar condition (Oliver-McFarlane) syndrome was reported previously. Our two sibs confirm the existence of this autosomal recessive syndrome. PMID:16152639

  18. Stature and jumping height are required in female volleyball, but motor coordination is a key factor for future elite success.

    PubMed

    Pion, Johan A; Fransen, Job; Deprez, Dieter N; Segers, Veerle I; Vaeyens, Roel; Philippaerts, Renaat M; Lenoir, Matthieu

    2015-06-01

    It was hypothesized that differences in anthropometry, physical performance, and motor coordination would be found between Belgian elite and sub-elite level female volleyball players using a retrospective analysis of test results gathered over a 5-year period. The test sample in this study consisted of 21 young female volleyball players (15.3 ± 1.5 years) who were selected to train at the Flemish Top Sports Academy for Volleyball in 2008. All players (elite, n = 13; sub-elite, n = 8) were included in the same talent development program, and the elite-level athletes were of a high to very high performance levels according to European competition level in 2013. Five multivariate analyses of variance were used. There was no significant effect of playing level on measures of anthropometry (F = 0.455, p = 0.718, (Equation is included in full-text article.)= 0.07), flexibility (F = 1.861, p = 0.188, (Equation is included in full-text article.)= 0.19), strength (F = 1.218, p = 0.355, (Equation is included in full-text article.)= 0.32); and speed and agility (F = 1.176, p = 0.350, (Equation is included in full-text article.)= 0.18). Multivariate analyses of variance revealed significant multivariate effects between playing levels for motor coordination (F = 3.470, p = 0.036, (Equation is included in full-text article.)= 0.59). A Mann-Whitney U test and a sequential discriminant analysis confirmed these results. Previous research revealed that stature and jump height are prerequisites for talent identification in female volleyball. In addition, the results show that motor coordination is an important factor in determining inclusion into the elite level in female volleyball. PMID:25436627

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

    PubMed Central

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

    2012-01-01

    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

  20. Intersection of economics, history, and human biology: secular trends in stature in nineteenth-century Sioux Indians.

    PubMed

    Prince, J M

    1995-06-01

    An unusual confluence of historical factors may be responsible for nineteenth-century Sioux being able to sustain high statures despite enduring adverse conditions during the early reservation experience. An exceptionally long span of Dakota Sioux history was examined for secular trends using a cross-sectional design. Two primary sources were used: One anthropometric data set was collected in the late nineteenth century under the direction of Franz Boas, and another set was collected by James R. Walker in the early twentieth century. Collectively, the data represent the birth years between 1820 and 1880 for adult individuals 20 years old or older. Adult heights (n = 1197) were adjusted for aging effects and regressed on age, with each data set and each sex analyzed separately. Tests for differences between the adult means of age cohorts by decade of birth (1820-1880) were also carried out. Only one sample of adults showed any convincing secular trend (p < 0.05): surprisingly, a positive linear trend for Walker's sample of adult males. This sample was also the one sample of adults that showed significant differences between age cohorts. The failure to find any negative secular trend in this population of Amerindians is remarkable, given the drastic socioeconomic changes that occurred with the coming of the reservation period (ca. 1868). Comparisons with contemporary white Americans show that the Sioux remained consistently taller than whites well into the reservation period and that Sioux children (Prince 1989) continued to grow at highly favorable rates during this time of severe conditions. A possible explanation for these findings involves the relatively favorable level of subsistence support received by most of the Sioux from the US government, as stipulated by various treaties. Conservative estimates suggest that the Sioux may have been able to sustain net levels of per capita annual meat consumption that exceeded the US average for several years before 1893. PMID:7607635

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

    PubMed Central

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

    1987-01-01

    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

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

    PubMed Central

    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

    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

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

    PubMed Central

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

    2009-01-01

    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 in CATSPER4, combined P-value?=?6.1×10?8 and rs910316 in TMED10, P-value?=?1.4×10?7) and two had previously been described with weak statistical support (rs10472828 in NPR3, P-value?=?3×10?7 and rs849141 in JAZF1, P-value?=?3.2×10?11). One locus (rs1182188 at GNA12) identifies the first height eQTL. We also assessed the contribution of height loci to the upper- (trunk) and lower-body (hip axis and femur) skeletal components of height. We find evidence for several loci associated with trunk length (including rs6570507 in GPR126, P-value?=?4×10?5 and rs6817306 in LCORL, P-value?=?4×10?4), hip axis length (including rs6830062 at LCORL, P-value?=?4.8×10?4 and rs4911494 at UQCC, P-value?=?1.9×10?4), and femur length (including rs710841 at PRKG2, P-value?=?2.4×10?5 and rs10946808 at HIST1H1D, P-value?=?6.4×10?6). Finally, we used conditional analyses to explore a possible differential contribution of the height loci to these different skeletal size measurements. In addition to validating four novel loci controlling adult stature, our study represents the first effort to assess the contribution of genetic loci to three skeletal components of height. Further statistical tests in larger numbers of individuals will be required to verify if the height loci affect height preferentially through these subcomponents of height. PMID:19343178

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

    PubMed Central

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

    2008-01-01

    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

  5. Non-synonymous FGD3 Variant as Positional Candidate for Disproportional Tall Stature Accounting for a Carcass Weight QTL (CW-3) and Skeletal Dysplasia in Japanese Black Cattle

    PubMed Central

    Takasuga, Akiko; Sato, Kunio; Nakamura, Ryouichi; Saito, Yosuke; Sasaki, Shinji; Tsuji, Takehito; Suzuki, Akio; Kobayashi, Hiroshi; Matsuhashi, Tamako; Setoguchi, Koji; Okabe, Hiroshi; Ootsubo, Toshitake; Tabuchi, Ichiro; Fujita, Tatsuo; Watanabe, Naoto; Hirano, Takashi; Nishimura, Shota; Watanabe, Toshio; Hayakawa, Makio; Sugimoto, Yoshikazu; Kojima, Takatoshi

    2015-01-01

    Recessive skeletal dysplasia, characterized by joint- and/or hip bone-enlargement, was mapped within the critical region for a major quantitative trait locus (QTL) influencing carcass weight; previously named CW-3 in Japanese Black cattle. The risk allele was on the same chromosome as the Q allele that increases carcass weight. Phenotypic characterization revealed that the risk allele causes disproportional tall stature and bone size that increases carcass weight in heterozygous individuals but causes disproportionately narrow chest width in homozygotes. A non-synonymous variant of FGD3 was identified as a positional candidate quantitative trait nucleotide (QTN) and the corresponding mutant protein showed reduced activity as a guanine nucleotide exchange factor for Cdc42. FGD3 is expressed in the growth plate cartilage of femurs from bovine and mouse. Thus, loss of FDG3 activity may lead to subsequent loss of Cdc42 function. This would be consistent with the columnar disorganization of proliferating chondrocytes in chondrocyte-specific inactivated Cdc42 mutant mice. This is the first report showing association of FGD3 with skeletal dysplasia. PMID:26306008

  6. Non-synonymous FGD3 Variant as Positional Candidate for Disproportional Tall Stature Accounting for a Carcass Weight QTL (CW-3) and Skeletal Dysplasia in Japanese Black Cattle.

    PubMed

    Takasuga, Akiko; Sato, Kunio; Nakamura, Ryouichi; Saito, Yosuke; Sasaki, Shinji; Tsuji, Takehito; Suzuki, Akio; Kobayashi, Hiroshi; Matsuhashi, Tamako; Setoguchi, Koji; Okabe, Hiroshi; Ootsubo, Toshitake; Tabuchi, Ichiro; Fujita, Tatsuo; Watanabe, Naoto; Hirano, Takashi; Nishimura, Shota; Watanabe, Toshio; Hayakawa, Makio; Sugimoto, Yoshikazu; Kojima, Takatoshi

    2015-08-01

    Recessive skeletal dysplasia, characterized by joint- and/or hip bone-enlargement, was mapped within the critical region for a major quantitative trait locus (QTL) influencing carcass weight; previously named CW-3 in Japanese Black cattle. The risk allele was on the same chromosome as the Q allele that increases carcass weight. Phenotypic characterization revealed that the risk allele causes disproportional tall stature and bone size that increases carcass weight in heterozygous individuals but causes disproportionately narrow chest width in homozygotes. A non-synonymous variant of FGD3 was identified as a positional candidate quantitative trait nucleotide (QTN) and the corresponding mutant protein showed reduced activity as a guanine nucleotide exchange factor for Cdc42. FGD3 is expressed in the growth plate cartilage of femurs from bovine and mouse. Thus, loss of FDG3 activity may lead to subsequent loss of Cdc42 function. This would be consistent with the columnar disorganization of proliferating chondrocytes in chondrocyte-specific inactivated Cdc42 mutant mice. This is the first report showing association of FGD3 with skeletal dysplasia. PMID:26306008

  7. Genome-wide association study identified three major QTL for carcass weight including the PLAG1-CHCHD7 QTN for stature in Japanese Black cattle

    PubMed Central

    2012-01-01

    Background Significant quantitative trait loci (QTL) for carcass weight were previously mapped on several chromosomes in Japanese Black half-sib families. Two QTL, CW-1 and CW-2, were narrowed down to 1.1-Mb and 591-kb regions, respectively. Recent advances in genomic tools allowed us to perform a genome-wide association study (GWAS) in cattle to detect associations in a general population and estimate their effect size. Here, we performed a GWAS for carcass weight using 1156 Japanese Black steers. Results Bonferroni-corrected genome-wide significant associations were detected in three chromosomal regions on bovine chromosomes (BTA) 6, 8, and 14. The associated single nucleotide polymorphisms (SNP) on BTA 6 were in linkage disequilibrium with the SNP encoding NCAPG Ile442Met, which was previously identified as a candidate quantitative trait nucleotide for CW-2. In contrast, the most highly associated SNP on BTA 14 was located 2.3-Mb centromeric from the previously identified CW-1 region. Linkage disequilibrium mapping led to a revision of the CW-1 region within a 0.9-Mb interval around the associated SNP, and targeted resequencing followed by association analysis highlighted the quantitative trait nucleotides for bovine stature in the PLAG1-CHCHD7 intergenic region. The association on BTA 8 was accounted for by two SNP on the BovineSNP50 BeadChip and corresponded to CW-3, which was simultaneously detected by linkage analyses using half-sib families. The allele substitution effects of CW-1, CW-2, and CW-3 were 28.4, 35.3, and 35.0 kg per allele, respectively. Conclusion The GWAS revealed the genetic architecture underlying carcass weight variation in Japanese Black cattle in which three major QTL accounted for approximately one-third of the genetic variance. PMID:22607022

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

    PubMed Central

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

    1997-01-01

    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

  9. Genetics Home Reference: Robinow syndrome

    MedlinePLUS

    ... fetus ; gene ; genitalia ; genitals ; gums ; inheritance ; kidney ; kyphoscoliosis ; mineral ; mutation ; pattern of inheritance ; protein ; recessive ; short stature ; stature ; syndrome You may find ...

  10. 8.6Mb interstitial deletion of chromosome 4q13.3q21.23 in a boy with cognitive impairment, short stature, hearing loss, skeletal abnormalities and facial dysmorphism.

    PubMed

    Lipska, B S; Brzeskwiniewicz, M; Wierzba, J; Morzuchi, L; Piotrowski, A; Limon, J

    2011-01-01

    We describe a 16-year-old boy with an 8.6Mb interstitial deletion of chromosome 4q 13.3q21.23 identified by oligo array-CGH. The patient presents psychomotor developmental delay, absent speech, marked progressive growth restriction, hearing loss, skeletal defects and minor facial anomalies. The patient required surgical treatment for cleft lip and palate, bilateral cryptorchidism and a neurofibroma. The analysis of the presented patient against previously published cases allowed us to expand further on the phenotype and to reevaluate previously proposed critical overlapping region at 4q21. As an addition to PRKG2 and RASGEFIB genes, we propose to include BMP3 gene as the principal determinant of the observed common phenotype. BMP3 haploinsufficiency appears to be causative of hearing loss and peculiar skeletal abnormalities including hemivertebrae and brachydactyly. PMID:22303795

  11. Multikinase activity of fibroblast growth factor receptor (FGFR) inhibitors SU5402, PD173074, AZD1480, AZD4547 and BGJ398 compromises the use of small chemicals targeting FGFR catalytic activity for therapy of short-stature syndromes.

    PubMed

    Gudernova, Iva; Vesela, Iva; Balek, Lukas; Buchtova, Marcela; Dosedelova, Hana; Kunova, Michaela; Pivnicka, Jakub; Jelinkova, Iva; Roubalova, Lucie; Kozubik, Alois; Krejci, Pavel

    2016-01-01

    Activating mutations in the fibroblast growth factor receptor 3 (FGFR3) cause the most common genetic form of human dwarfism, achondroplasia (ACH). Small chemical inhibitors of FGFR tyrosine kinase activity are considered to be viable option for treating ACH, but little experimental evidence supports this claim. We evaluated five FGFR tyrosine kinase inhibitors (TKIs) (SU5402, PD173074, AZD1480, AZD4547 and BGJ398) for their activity against FGFR signaling in chondrocytes. All five TKIs strongly inhibited FGFR activation in cultured chondrocytes and limb rudiment cultures, completely relieving FGFR-mediated inhibition of chondrocyte proliferation and maturation. In contrast, TKI treatment of newborn mice did not improve skeletal growth and had lethal toxic effects on the liver, lungs and kidneys. In cell-free kinase assays as well as in vitro and in vivo cell assays, none of the tested TKIs demonstrated selectivity for FGFR3 over three other FGFR tyrosine kinases. In addition, the TKIs exhibited significant off-target activity when screened against a panel of 14 unrelated tyrosine kinases. This was most extensive in SU5402 and AZD1480, which inhibited DDR2, IGF1R, FLT3, TRKA, FLT4, ABL and JAK3 with efficiencies similar to or greater than those for FGFR. Low target specificity and toxicity of FGFR TKIs thus compromise their use for treatment of ACH. Conceptually, different avenues of therapeutic FGFR3 targeting should be investigated. PMID:26494904

  12. A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD)

    PubMed Central

    Lampret, Barbka Repic; Murko, Simona; Debeljak, Marusa; Tansek, Mojca Zerjav; Fister, Petja

    2015-01-01

    Background Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare inherited mitochondrial fatty acid oxidation disorder associated with variations in the ACADS (Acyl-CoA dehydrogenase, C-2 to C-3 short chain) gene. SCADD has highly variable biochemical, genetic and clinical characteristics. Phenotypes vary from fatal metabolic decompensation to asymptomatic individuals. Subject and methods A Romani boy presented at 3 days after birth with hypoglycaemia, hypotonia and respiratory pauses with brief generalized seizures. Afterwards the failure to thrive and developmental delay were present. Organic acids analysis with gas chromatography-mass spectrometry (GS/MS) in urine and acylcarnitines analysis with liquid chromatography-tandem mass spectrometry (LC-MS/MS) in dried blood spot were measured. Deoxyribonucleic acid (DNA) was isolated from blood and polymerase chain reactions (PCRs) were performed for all exons. Sequence analysis of all exons and flanking intron sequences of ACADS gene was performed. Results Organic acids analysis revealed increased concentration of ethylmalonic acid. Acylcarnitines analysis showed increase of butyrylcarnitine, C4-carnitine. C4-carnitine was 3.5 times above the reference range (<0.68 µmol/L). Confirmation analysis for organic acids and acylcarnitine profile was performed on the second independent sample and showed the same pattern of increased metabolites. Sequence analysis revealed 3-bp deletion at position 310-312 in homozygous state (c.310_312delGAG). Mutation was previously described as pathogenic in heterozygous state, while it is in homozygous state in our patient. Conclusions In our case clinical features of a patient, biochemical parameters and genetic data were consistent and showed definitely SCAD deficiency. PMID:26110041

  13. A Short Story Collection

    E-print Network

    Richardson, Kalen06

    2013-08-31

    A Short Fiction Collection By Copyright 2013 Kalen Richardson Submitted to the graduate degree program in English and the Graduate Faculty of the University of Kansas in partial fulfillment of the requirements for the degree of Master.../17/2013 ii The Thesis Committee for Kalen Richardson certifies that this is the approved version of the following thesis: A Short Story Collection ________________________________ Chairperson Tom Lorenz Date approved: 4...

  14. 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.

  15. The Short Nose.

    PubMed

    Cone, Jeffrey D; Hobar, P Craig

    2016-01-01

    The causes of the short nose deformity vary greatly, from congenital malformations to acquired deformities. Despite this degree of variation, key commonalities exist, namely, a shortened nasal length, overrotation of the nasal tip, and increased nostril show. This article is designed to help the reader identify precise causes of the short nose, outline associated anatomy, and discuss reliable surgical techniques to correct this deformity. PMID:26616704

  16. 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

    Sebastio, G.; Perone, L.; Guzzetta, V.

    1996-05-17

    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.

  17. Detecting short circuits during assembly

    NASA Technical Reports Server (NTRS)

    Deboo, G. J.

    1980-01-01

    Detector circuit identifies shorts between bus bars of electronic equipment being wired. Detector sounds alarm and indicates which planes are shorted. Power and ground bus bars are scanned continuously until short circuit occurs.

  18. Short wavelength FELS

    SciTech Connect

    Sheffield, R.L.

    1991-01-01

    The generation of coherent ultraviolet and shorter wavelength light is presently limited to synchrotron sources. The recent progress in the development of brighter electron beams enables the use of much lower energy electron rf linacs to reach short-wavelengths than previously considered possible. This paper will summarize the present results obtained with synchrotron sources, review proposed short- wavelength FEL designs and then present a new design which is capable of over an order of magnitude higher power to the extreme ultraviolet. 17 refs., 10 figs.

  19. Cell Metabolism Short Article

    E-print Network

    Chanfreau, Guillaume

    Cell Metabolism Short Article Sphingolipid Signaling Mediates Iron Toxicity Yueh-Jung Lee,1 Xinhe of cellular macromolecules to ROS (Touati, 2000; Valko et al., 2005). Defects in Fe metabolism can result of limiting iron toxicity. Thus, iron levels must be regulated to meet the demands of cellular metabolism

  20. Short notes Batrachochytrium dendrobatidis

    E-print Network

    183 Short notes Batrachochytrium dendrobatidis not found in rainforest frogs along an altitudinal survey on Bd in Papua New Guinea (PNG). The survey for Bd was conducted along a rainforest altitudinal, chytridiomycosis, Papua New Guinea, rainforest Papua New Guinea (PNG), situated on the eastern half of the island

  1. Short wavelength laser

    DOEpatents

    Hagelstein, P.L.

    1984-06-25

    A short wavelength laser is provided that is driven by conventional-laser pulses. A multiplicity of panels, mounted on substrates, are supported in two separated and alternately staggered facing and parallel arrays disposed along an approximately linear path. When the panels are illuminated by the conventional-laser pulses, single pass EUV or soft x-ray laser pulses are produced.

  2. differences short--period

    E-print Network

    Meech, Karen Jean

    HST Imaging of Distant Comet Nuclei K. J. Meech, O. R. Hainaut (IfA) The Wide Field Camera (WFC) on the Hubble Space Telescope has been used to image 4 distant comet nuclei, as part of a long--term program to search for physical differences between short--period comets and Oort cloud comets. WFC data were

  3. Fraud Awareness Short Presentation

    E-print Network

    Jiang, Jiancheng

    Fraud Awareness Overview A Short Presentation From Your Internal Audit Department With assistance from the Office of the State Controller and the EAGLE Training Team #12;What is Fraud? #12;#12;What are some examples of fraud? #12;#12;Who commits fraud and why? #12;Management Manipulation

  4. Troubling Practices: Short Responses

    ERIC Educational Resources Information Center

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

    2012-01-01

    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…

  5. Submicroscopic deletions at 16p13.3 in Rubinstein-Taybi syndrome: frequency and clinical manifestations in a North American population.

    PubMed Central

    Wallerstein, R; Anderson, C E; Hay, B; Gupta, P; Gibas, L; Ansari, K; Cowchock, F S; Weinblatt, V; Reid, C; Levitas, A; Jackson, L

    1997-01-01

    Rubinstein-Taybi syndrome (RTS) is a well delineated multiple congenital anomaly syndrome characterised by mental retardation, broad thumbs and toes, short stature, and specific facial features. The recent localisation of the disorder to 16p13.3 and subsequent identification of a submicroscopic deletion of this region in RTS patients led us to screen a large cohort of affected subjects using the RT1 probe. Among 64 patients with clinical evidence of RTS, seven (11%) had a deletion. Another patient had a translocation of the region without evidence of a deletion. The features of coloboma, growth retardation, naevus flammeus, and hypotonia have a positive predictive value for the presence of an RT1 deletion. Because of the relatively low frequency of deletions in RTS, the RT1 probe is useful in diagnostic confirmation, but has limited use as a screening tool. PMID:9132490

  6. Prader-Willi syndrome.

    PubMed Central

    Cassidy, S B

    1997-01-01

    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 proximal 15q and results from absence of the normally active paternal genes in this region. Such absence results from paternal interstitial deletion, maternal uniparental disomy, or a mutation or other abnormality in the imprinting process. Diagnostic identification of all causes has become available in recent years, permitting early detection and institution of appropriate management. This testing has permitted recent identification of some phenotypic differences among affected subjects of different race and between those with deletions and uniparental disomy as a cause. Images PMID:9391886

  7. Short and canonical GRBs

    E-print Network

    Carlo Luciano Bianco; Maria Grazia Bernardini; Letizia Caito; Maria Giovanna Dainotti; Roberto Guida; Remo Ruffini

    2008-04-17

    Within the "fireshell" model for the Gamma-Ray Bursts (GRBs) we define a "canonical GRB" light curve with two sharply different components: the Proper-GRB (P-GRB), emitted when the optically thick fireshell of electron-positron plasma originating the phenomenon reaches transparency, and the afterglow, emitted due to the collision between the remaining optically thin fireshell and the CircumBurst Medium (CBM). We outline our "canonical GRB" scenario, with a special emphasis on the discrimination between "genuine" and "fake" short GRBs.

  8. Scottish Short Stone Rows

    NASA Astrophysics Data System (ADS)

    Ruggles, Clive L. N.

    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.

  9. Short Baseline Neutrino Oscillation Experiments

    NASA Astrophysics Data System (ADS)

    Katori, Teppei

    2015-04-01

    Series of short baseline neutrino oscillation experiments provided unexpected results, and now they are called short baseline anomalies, and all indicates an existence of sterile neutrinos with a mass scale around 1 eV. The signals of short baseline anomalies are reported from 4 different classes of experiments. However, at this moment, there is no convincing theoretical model to explain such sterile neutrinos, and a single experiment to confirm 1 eV sterile neutrinos may be challenging. In this short note, we describe classes of short baseline neutrino oscillation experiments and their goals.

  10. Short-period comets

    NASA Technical Reports Server (NTRS)

    Weissman, Paul R.; Campins, Humberto

    1991-01-01

    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.

  11. Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes.

    PubMed

    Riley, Kacie N; Catalano, Lisa M; Bernat, John A; Adams, Stacie D; Martin, Donna M; Lalani, Seema R; Patel, Ankita; Burnside, Rachel D; Innis, Jeffrey W; Rudd, M Katharine

    2015-11-01

    Copy number variation (CNV) in the long arm of chromosome 2 has been implicated in developmental delay (DD), intellectual disability (ID), autism spectrum disorder (ASD), congenital anomalies, and psychiatric disorders. Here we describe 14 new subjects with recurrent deletions and duplications of chromosome 2q11.2, 2q13, and 2q11.2-2q13. Though diverse phenotypes are associated with these CNVs, some common features have emerged. Subjects with 2q11.2 deletions often exhibit DD, speech delay, and attention deficit hyperactivity disorder (ADHD), whereas those with 2q11.2 duplications have DD, gastroesophageal reflux, and short stature. Congenital heart defects (CHDs), hypotonia, dysmorphic features, and abnormal head size are common in those with 2q13 deletions. In the 2q13 duplication cohort, we report dysmorphic features, DD, and abnormal head size. Two individuals with large duplications spanning 2q11.2-2q13 have dysmorphic features, hypotonia, and DD. This compilation of clinical features associated with 2q CNVs provides information that will be useful for healthcare providers and for families of affected children. However, the reduced penetrance and variable expressivity associated with these recurrent CNVs makes genetic counseling and prediction of outcomes challenging. © 2015 Wiley Periodicals, Inc. PMID:26227573

  12. LibShortText: A Library for Short-text Classification and Analysis LibShortText: A Library for Short-text Classification and

    E-print Network

    Lin, Chih-Jen

    LibShortText: A Library for Short-text Classification and Analysis LibShortText: A Library for Short-text Classification and Analysis Hsiang-Fu Yu rofuyu@cs.utexas.edu Department of Computer Science University, Taipei 106, Taiwan Editor: Editor name Abstract LibShortText is an open source library for short

  13. Short Stories in the Classroom.

    ERIC Educational Resources Information Center

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

    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…

  14. Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency.

    PubMed

    Zielonka, Matthias; Makhseed, Nawal; Blau, Nenad; Bettendorf, Markus; Hoffmann, Georg Friedrich; Opladen, Thomas

    2015-01-01

    Sepiapterin reductase (SR) deficiency is a rare autosomal recessively inherited error of tetrahydrobiopterin (BH4) biosynthesis, resulting in disturbed dopaminergic and serotonergic neurotransmission. The clinical phenotype is characterized by dopa-responsive movement disorders including muscular hypotonia, dystonia, and parkinsonism. Due to the rarity of the disease, the phenotype of SR deficiency is far from being completely understood. Here, we report a 7-year-old boy, who was referred for diagnostic evaluation of combined psychomotor retardation, spastic tetraplegia, extrapyramidal symptoms, and short stature. Due to discrepancy between motor status and mental condition, analyses of biogenic amines and pterins in CSF were performed, leading to the diagnosis of SR deficiency. The diagnosis was confirmed by a novel homozygous mutation c.530G>C; p.(Arg177Pro) in exon 2 of the SPR gene. Because of persistent short stature, systematic endocrinological investigations were initiated. Insufficient growth-hormone release in a severe hypoglycemic episode after overnight fasting confirmed growth-hormone deficiency as a cause of short stature. In addition, central hypothyroidism was present. A general hypothalamic affection could be excluded. Since dopamine is known to regulate growth-hormone excretion, IGF-1, IGF-BP3, and peripheral thyroid hormone levels were monitored under L-dopa/carbidopa supplementation. Both growth-hormone-dependent factors and thyroid function normalized under treatment. This is the first report describing growth-hormone deficiency and central hypothyroidism in SR deficiency. It extends the phenotypic spectrum of the disease and identifies dopamine depletion as cause for the endocrinological disturbances. PMID:26006722

  15. Effects of Growth Hormone in Chronically Ill Children

    ClinicalTrials.gov

    2006-02-01

    - 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.

  16. Effect of zinc supplementation on growth Hormone Insulin growth factor axis in short Egyptian children with zinc deficiency

    PubMed Central

    2012-01-01

    Background The relationship between zinc (Zn) and growth hormone-insulin growth factor (GH-IGF) system and how Zn therapy stimulates growth in children has not been clearly defined in humans. Thus, we aimed to assess GH-IGF axis in short children with Zn deficiency and to investigate the effect of Zn supplementation on these parameters. Methods Fifty pre-pubertal Egyptian children with short stature and Zn deficiency were compared to 50 age-, sex-, and pubertal stage- matched controls. All subjects were subjected to history, auxological assessment and measurement of serum Zn, IGF-1, insulin growth factor binding protein-3 (IGFBP-3); and basal and stimulated GH before and 3?months after Zn supplementation (50?mg/day). Results After 3?months of Zn supplementation in Zn-deficient patients, there were significant increases in height standard deviation score (SDS, P?=?0.033), serum Zn (P?short children with Zn deficiency, and increased after Zn supplementation for 3?months but their levels were still lower than the normal reference ranges in most children; therefore, Zn supplementation may be necessary for longer periods. PMID:22625223

  17. Shorts in self-checking circuits

    NASA Astrophysics Data System (ADS)

    Nicolaidis, M.

    1987-04-01

    Consequences of shorts in self-checking NMOS and CMOS circuits are analyzed. Circuits checked by the parity code or by unordered codes are considered. Coverage of the different short types by techniques for other faults is examined. It is shown that the techniques cover feedback shorts having different consequences than the faults for which these techniques are originally proposed. Transfer of the results to other technologies is easy since the technology independent classification of short gives four possible cases: non feedback shorts always giving logical erroneous levels (the error on the two shorted lines is always single); non feedback shorts which may give indeterminate erroneous levels (the error on the two shorted lines may be double non unidirectional); even feedback shorts (the possible double error on the two shorted lines is implicitly unidirectional); and odd feedback shorts (the possible double error on the two shorted lines is implicitly non unidirectional).

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

    SciTech Connect

    Mackun, I.R.; Leopold, D.J.; Raynal, D.J. )

    1994-08-01

    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.

  19. Beware Postpartum Shortness of Breath

    PubMed Central

    Akpinar, Guleser; Ipekci, Afsin; Gulen, Bedia; Ikizceli, Ibrahim

    2015-01-01

    Peripartum cardiomyopathy (PPCM) is one of the potentially life-threatening complications of pregnancy. We report a case of a 36-year-old female patient who presented with shortness of breath, swelling of feet after giving birth to triplets, and her tests revealed that left ventricle is dilated with its diameter on the borderline and she had EF 35% with advanced systolic dysfunction. Anterior wall and septum were severely hypokinetic. In the presence of these findings, the patient was evaluated as PPCM. PPCM must be considered in the differential diagnosis of a patient presenting with shortness of breath and swelling of feet, which are also common in pregnancy.

  20. Cell Stem Cell Short Article

    E-print Network

    Lahav, Galit

    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

  1. Towards short wavelengths FELs workshop

    SciTech Connect

    Ben-Zvi, I.; Winick, H.

    1993-12-01

    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.

  2. SHORT REVIEW Butterfly genomics eclosing

    E-print Network

    Beldade, Patrícia

    SHORT REVIEW Butterfly genomics eclosing P Beldade1 , WO McMillan2 and A Papanicolaou3 1 Section to an explosion of genomic data and the emergence of new research avenues. Evolutionary and ecological functional genomics, with its focus on the genes that affect ecological success and adaptation in natural populations

  3. Cell Host & Microbe Short Article

    E-print Network

    Nizet, Victor

    #12;Cell Host & Microbe Short Article The Globally Disseminated M1T1 Clone of Group A Streptococcus the intracellular bacterial pathogen Group A Streptococcus (GAS). However, the GAS strains examined to date belong A Streptococcus (GAS) is an obligate human pathogen and the fourth most common bacterial cause of human mortality

  4. Cell Host & Microbe Short Article

    E-print Network

    Nizet, Victor

    Cell Host & Microbe Short Article The IL-8 Protease SpyCEP/ScpC of Group A Streptococcus Promotes and immu- nostimulatory activities. The Group A Streptococcus (GAS) protease SpyCEP (also called Scp show that the zoonotic pathogen Streptococcus iniae possesses a func- tional homolog of SpyCEP (Cep

  5. Internal Controls A short presentation

    E-print Network

    Jiang, Jiancheng

    Internal Controls A short presentation from Your Internal Audit Department #12;The Old Internal Audit Department #12;The New Internal Audit Department "We're here to help!" Teach + Train = Change Our financial data comply with laws and defined policies To minimize RISK. What is risk? #12;How and Why Fraud

  6. Short Report Selective Versus Unselective

    E-print Network

    Reber, Paul J.

    Short Report Selective Versus Unselective Romantic Desire Not All Reciprocity Is Created Equal Paul psychological lore frequently extend these findings to romantic liking, but the validity of this extension is unclear. When asked to recall a falling-in-love experience, individuals often report learning of another

  7. Cell Host & Microbe Short Article

    E-print Network

    Higgins, Darren

    Cell Host & Microbe Short Article TH17-Based Vaccine Design for Prevention of Streptococcus pneumoniae Colonization Kristin L. Moffitt,1,5 Todd M. Gierahn,2,5 Ying-jie Lu,1 Paulo Gouveia,2 Mark *Correspondence: richard.malley@childrens.harvard.edu DOI 10.1016/j.chom.2011.01.007 SUMMARY Streptococcus

  8. Optimal Short-Sighted Rules

    PubMed Central

    Bourgeois-Gironde, Sacha

    2012-01-01

    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

  9. Auditory Short-Term Memory Behaves Like Visual Short-Term Memory

    E-print Network

    Sekuler, Robert

    Auditory Short-Term Memory Behaves Like Visual Short-Term Memory Kristina M. Visscher1* , Elina (2007) Auditory short-term memory behaves like visual short-term memory. PLoS Biol 5(3): e56. doi:10, Philadelphia, Pennsylvania, United States of America Are the information processing steps that support short-term

  10. Short-range communication system

    NASA Technical Reports Server (NTRS)

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

    2012-01-01

    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.

  11. Cell Stem Cell Short Article

    E-print Network

    Collins, James J.

    that the splicing factor SFRS2 is an OCT4 target gene required for pluripotency. SFRS2 regulates AS of the methylCell Stem Cell Short Article Alternative Splicing of MBD2 Supports Self-Renewal in Human_marto@dfci.harvard.edu (J.A.M.) http://dx.doi.org/10.1016/j.stem.2014.04.002 SUMMARY Alternative RNA splicing (AS) regulates

  12. Tetrahymena mutants with short telomeres.

    PubMed

    Ahmed, S; Sheng, H; Niu, L; Henderson, E

    1998-10-01

    Telomere length is dynamic in many organisms. Genetic screens that identify mutants with altered telomere lengths are essential if we are to understand how telomere length is regulated in vivo. In Tetrahymena thermophila, telomeres become long at 30 degrees, and growth rate slows. A slow-growing culture with long telomeres is often overgrown by a variant cell type with short telomeres and a rapid-doubling rate. Here we show that this variant cell type with short telomeres is in fact a mutant with a genetic defect in telomere length regulation. One of these telomere growth inhibited forever (tgi) mutants was heterozygous for a telomerase RNA mutation, and this mutant telomerase RNA caused telomere shortening when overexpressed in wild-type cells. Several other tgi mutants were also likely to be heterozygous at their mutant loci, since they reverted to wild type when selective pressure for short telomeres was removed. These results illustrate that telomere length can regulate growth rate in Tetrahymena and that this phenomenon can be exploited to identify genes involved in telomere length regulation. PMID:9755196

  13. Orogeny can be very short.

    PubMed

    Dewey, John F

    2005-10-25

    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

  14. Orogeny can be very short

    PubMed Central

    Dewey, John F.

    2005-01-01

    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 ?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

  15. Genetics Home Reference: Shwachman-Diamond syndrome

    MedlinePLUS

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  16. Genetics Home Reference: Prader-Willi syndrome

    MedlinePLUS

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  17. Genetics Home Reference: Aarskog-Scott syndrome

    MedlinePLUS

    ... surrounds the penis. Less often, they have undescended testes (cryptorchidism) or a soft out-pouching around the ... scrotum ; sex chromosomes ; short stature ; stature ; syndactyly ; syndrome ; testes ; X-linked recessive You may find definitions for ...

  18. Genetics Home Reference: Alpha thalassemia X-linked intellectual disability syndrome

    MedlinePLUS

    ... are also common; affected males may have undescended testes and the opening of the urethra on the ... sex chromosomes ; short stature ; sign ; stature ; stomach ; syndrome ; testes ; thalassemia ; X-linked recessive You may find definitions ...

  19. Genetics Home Reference: Pitt-Hopkins syndrome

    MedlinePLUS

    ... Males with Pitt-Hopkins syndrome may have undescended testes (cryptorchidism). How common is Pitt-Hopkins syndrome? Pitt- ... cells ; short stature ; spectrum ; sperm ; stature ; strabismus ; syndrome ; testes ; transcription ; transcription factor You may find definitions for ...

  20. Genetics Home Reference: Mowat-Wilson syndrome

    MedlinePLUS

    ... can understand others' speech, however, and some use sign language to communicate. If speech develops, it is delayed ... pigmentation ; prevalence ; protein ; reproductive cells ; short stature ; sign ; sign language ; sperm ; stature ; syndrome ; transcription ; transcription factor You may ...

  1. Genetics Home Reference: Ellis-van Creveld syndrome

    MedlinePLUS

    ... and Families Resources for Health Professionals What glossary definitions help with understanding Ellis-van Creveld syndrome? autosomal ; autosomal recessive ; cell ; dwarfism ; dysplasia ; embryo ; gene ; inherited ; polydactyly ; population ; prevalence ; protein ; recessive ; short stature ; stature ; syndrome You ...

  2. 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 ; ...

  3. Genetics Home Reference: Mucolipidosis III gamma

    MedlinePLUS

    ... process of attaching a molecule called mannose-6-phosphate (M6P) to specific digestive enzymes. Just as luggage ... valve ; inherited ; joint ; lysosome ; mannose ; mineral ; molecule ; osteoporosis ; phosphate ; prevalence ; recessive ; short stature ; stature ; subunit You may ...

  4. Genetics Home Reference: Mucolipidosis III alpha/beta

    MedlinePLUS

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  5. Genetics Home Reference: X-linked chondrodysplasia punctata 1

    MedlinePLUS

    ... This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the ... density ; cartilage ; cell ; chromosome ; compression ; deficiency ; deletion ; enzyme ; ... prevalence ; recessive ; sex chromosomes ; short stature ; stature ; stenosis ; X-linked ...

  6. Genetics Home Reference: Andersen-Tawil syndrome

    MedlinePLUS

    ... transports positively charged atoms (ions) of potassium into muscle cells. The movement of potassium ions through these channels ... ions ; long QT syndrome ; lower jaw ; micrognathia ; molecule ; muscle cells ; mutation ; potassium ; protein ; scoliosis ; short stature ; stature ; syncope ; ...

  7. Genetics Home Reference: Alström syndrome

    MedlinePLUS

    ... and Families Resources for Health Professionals What glossary definitions help with understanding Alström syndrome? acanthosis nigricans ; autosomal ; ... recessive ; short stature ; stature ; syndrome You may find definitions for these and many other terms in the ...

  8. Genetics Home Reference: Hereditary neuralgic amyotrophy

    MedlinePLUS

    ... palate ; cytokinesis ; cytoplasm ; epicanthal fold ; familial ; gene ; hereditary ; immune system ; inherited ; isoforms ; neuropathy ; palate ; prevalence ; protein ; short stature ; sign ; spontaneous ; stature ; stress ; surgery ; syndactyly ; tissue ; uvula ; wasting You may find ...

  9. Genetics Home Reference: Cartilage-hair hypoplasia

    MedlinePLUS

    ... have milder immune deficiency, experience infections of the respiratory system, ears, and sinuses. In particular, the chicken pox ... esophagus ; gastrointestinal ; gene ; gluten ; hypopigmentation ; hypoplasia ; ... respiratory ; ribosomal RNA ; RNA ; short stature ; stature ; stenosis ; syndrome ; ...

  10. TOXIC MODELING SYSTEM SHORT-TERM (TOXST)

    EPA Science Inventory

    The Toxic Modeling System Short-Term (TOXST) addresses the problem of estimating expected exceedances of specified short-term health effects thresholds in the vicinity of continuous and intermittent toxic releases. Certain industrial facilities emit airborne toxic chemicals known...

  11. Ultra-short pulse generator

    DOEpatents

    McEwan, T.E.

    1993-12-28

    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.

  12. Ultra-short pulse generator

    DOEpatents

    McEwan, Thomas E. (Livermore, CA)

    1993-01-01

    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.

  13. Recycler short kicker beam impedance

    SciTech Connect

    Crisp, Jim; Fellenz, Brian; /Fermilab

    2009-07-01

    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.

  14. 46 CFR 15.725 - Sailing short.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ...2010-10-01 2010-10-01 false Sailing short. 15.725 Section 15.725...Limitations and Qualifying Factors § 15.725 Sailing short. Whenever a vessel...sufficiently manned for the voyage. A report of sailing short must be filed in...

  15. 46 CFR 15.725 - Sailing short.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ...2012-10-01 2012-10-01 false Sailing short. 15.725 Section 15.725...Limitations and Qualifying Factors § 15.725 Sailing short. Whenever a vessel...sufficiently manned for the voyage. A report of sailing short must be filed in...

  16. 46 CFR 15.725 - Sailing short.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ...2011-10-01 2011-10-01 false Sailing short. 15.725 Section 15.725...Limitations and Qualifying Factors § 15.725 Sailing short. Whenever a vessel...sufficiently manned for the voyage. A report of sailing short must be filed in...

  17. 46 CFR 15.725 - Sailing short.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ...2014-10-01 2014-10-01 false Sailing short. 15.725 Section 15.725...Limitations and Qualifying Factors § 15.725 Sailing short. Whenever a vessel is...sufficiently manned for the voyage. A report of sailing short must be filed with the...

  18. 46 CFR 15.725 - Sailing short.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ...2013-10-01 2013-10-01 false Sailing short. 15.725 Section 15.725...Limitations and Qualifying Factors § 15.725 Sailing short. Whenever a vessel...sufficiently manned for the voyage. A report of sailing short must be filed in...

  19. Research Article The Capacity of Visual Short-

    E-print Network

    Lin, Kevin K.

    Research Article The Capacity of Visual Short- Term Memory Is Set Both by Visual Information Load suggested that visual short- term memory has a fixed capacity of about four objects. How- ever, we found and number of objects impose capacity limits on visual short-term memory. One of the most important

  20. Approaches to Teaching the Short Story.

    ERIC Educational Resources Information Center

    Matthews, Dorothy, Ed.

    1983-01-01

    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…

  1. 46 CFR 15.725 - Sailing short.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... 46 Shipping 1 2013-10-01 2013-10-01 false Sailing short. 15.725 Section 15.725 Shipping COAST... Limitations and Qualifying Factors § 15.725 Sailing short. Whenever a vessel is deprived of the service of a... vessel is sufficiently manned for the voyage. A report of sailing short must be filed in writing with...

  2. 46 CFR 15.725 - Sailing short.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 46 Shipping 1 2011-10-01 2011-10-01 false Sailing short. 15.725 Section 15.725 Shipping COAST... Limitations and Qualifying Factors § 15.725 Sailing short. Whenever a vessel is deprived of the service of a... vessel is sufficiently manned for the voyage. A report of sailing short must be filed in writing with...

  3. 46 CFR 15.725 - Sailing short.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... 46 Shipping 1 2012-10-01 2012-10-01 false Sailing short. 15.725 Section 15.725 Shipping COAST... Limitations and Qualifying Factors § 15.725 Sailing short. Whenever a vessel is deprived of the service of a... vessel is sufficiently manned for the voyage. A report of sailing short must be filed in writing with...

  4. 46 CFR 15.725 - Sailing short.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... 46 Shipping 1 2014-10-01 2014-10-01 false Sailing short. 15.725 Section 15.725 Shipping COAST... Limitations and Qualifying Factors § 15.725 Sailing short. Whenever a vessel is deprived of the service of a... vessel is sufficiently manned for the voyage. A report of sailing short must be filed with the...

  5. 46 CFR 15.725 - Sailing short.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 46 Shipping 1 2010-10-01 2010-10-01 false Sailing short. 15.725 Section 15.725 Shipping COAST... Limitations and Qualifying Factors § 15.725 Sailing short. Whenever a vessel is deprived of the service of a... vessel is sufficiently manned for the voyage. A report of sailing short must be filed in writing with...

  6. SHORT ROTATION WOODY CROPS FACTSHEET SERIES # 5

    E-print Network

    Minnesota, University of

    SHORT ROTATION WOODY CROPS FACTSHEET SERIES # 5 Sustainability of SRWC for Energy1 WHAT in short rotation woody crop (SRWC) systems must also provide the same benefits as the present generations, Apostol K, Berguson W, Volk T, Wright J, Ogdahl E. (In Press). Short Rotation Woody Crops Production. In S

  7. Short rotation Wood Crops Program

    SciTech Connect

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

    1990-08-01

    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.

  8. Drop short control of electrode gap

    DOEpatents

    Fisher, Robert W. (Albuquerque, NM); Maroone, James P. (Albuquerque, NM); Tipping, Donald W. (Albuquerque, NM); Zanner, Frank J. (Sandia Park, NM)

    1986-01-01

    During vacuum consumable arc remelting the electrode gap between a consumable electrode and a pool of molten metal is difficult to control. The present invention monitors drop shorts by detecting a decrease in the voltage between the consumable electrode and molten pool. The drop shorts and their associated voltage reductions occur as repetitive pulses which are closely correlated to the electrode gap. Thus, the method and apparatus of the present invention controls electrode gap based upon drop shorts detected from the monitored anode-cathode voltage. The number of drop shorts are accumulated, and each time the number of drop shorts reach a predetermined number, the average period between drop shorts is calculated from this predetermined number and the time in which this number is accumulated. This average drop short period is used in a drop short period electrode gap model which determines the actual electrode gap from the drop short. The actual electrode gap is then compared with a desired electrode gap which is selected to produce optimum operating conditions and the velocity of the consumable error is varied based upon the gap error. The consumable electrode is driven according to any prior art system at this velocity. In the preferred embodiment, a microprocessor system is utilized to perform the necessary calculations and further to monitor the duration of each drop short. If any drop short exceeds a preset duration period, the consumable electrode is rapidly retracted a predetermined distance to prevent bonding of the consumable electrode to the molten remelt.

  9. Rogue waves for a long wave-short wave resonance model with multiple short waves

    E-print Network

    1 Rogue waves for a long wave-short wave resonance model with multiple short waves Hiu Ning Chan (1 waves; Long-short resonance PACS Classification: 02.30.Jr; 05.45.Yv; 47.35.Fg #12;2 ABSTRACT A resonance between long and short waves will occur if the phase velocity of the long wave matches the group velocity

  10. Shapeable short circuit resistant capacitor

    SciTech Connect

    Taylor, Ralph S.; Myers, John D.; Baney, William J.

    2015-10-06

    A ceramic short circuit resistant capacitor that is bendable and/or shapeable to provide a multiple layer capacitor that is extremely compact and amenable to desirable geometries. The capacitor that exhibits a benign failure mode in which a multitude of discrete failure events result in a gradual loss of capacitance. Each event is a localized event in which localized heating causes an adjacent portion of one or both of the electrodes to vaporize, physically cleaning away electrode material from the failure site. A first metal electrode, a second metal electrode, and a ceramic dielectric layer between the electrodes are thin enough to be formed in a serpentine-arrangement with gaps between the first electrode and the second electrode that allow venting of vaporized electrode material in the event of a benign failure.

  11. WISC-IV short-form 1 Running head: WISC-IV Short-Form

    E-print Network

    Crawford, John R.

    WISC-IV short-form 1 Running head: WISC-IV Short-Form British Journal of Clinical Psychology.crawford@abdn.ac.uk #12;WISC-IV short-form 2 Running head: WISC-IV Short-Form Abstract Objectives: To develop an Index, in press An Index-Based Short-Form of the WISC-IV with Accompanying Analysis of the Reliability

  12. Short GRB Prompt and Afterglow Correlations

    NASA Technical Reports Server (NTRS)

    Gehrels, Neil

    2007-01-01

    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.

  13. Short Tandem Repeat DNA Internet Database

    National Institute of Standards and Technology Data Gateway

    SRD 130 Short Tandem Repeat DNA Internet Database (Web, free access)   Short Tandem Repeat DNA Internet Database is intended to benefit research and application of short tandem repeat DNA markers for human identity testing. Facts and sequence information on each STR system, population data, commonly used multiplex STR systems, PCR primers and conditions, and a review of various technologies for analysis of STR alleles have been included.

  14. Analytic QCD - a short review

    E-print Network

    Gorazd Cvetic; Cristian Valenzuela

    2008-04-10

    Analytic versions of QCD are those whose coupling alpha_s(Q^2) does not have the unphysical Landau singularities on the space-like axis (-q^2=Q^2 > 0). The coupling is analytic in the entire complex plane except the time-like axis (Q^2 < 0). Such couplings are thus suitable for application of perturbative methods down to energies of order GeV. We present a short review of the activity in the area which started with a seminal paper of Shirkov and Solovtsov ten years ago. Several models for analytic QCD coupling are presented. Strengths and weaknesses of some of these models are pointed out. Further, for such analytic couplings, constructions of the corresponding higher order analytic couplings (the analogs of the higher powers of the perturbative coupling) are outlined, and an approach based on the renormalization group considerations is singled out. Methods of evaluation of the leading-twist part of space-like observables in such analytic frameworks are described. Such methods are applicable also to the inclusive time-like observables. Two analytic models are outlined which respect the ITEP Operator Product Expansion philosophy, and thus allow for an evaluation of higher-twist contributions to observables.

  15. Onboard Short Term Plan Viewer

    NASA Technical Reports Server (NTRS)

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

    2011-01-01

    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.

  16. Short Interval Leaf Movements of Cotton 12

    PubMed Central

    Miller, Charles S.

    1975-01-01

    Gossypium hirsutum L. cv. Lankart plants exhibited three different types of independent short interval leaf movements which were superimposed on the circadian movements. The different types were termed SIRV (short interval rhythmical vertical), SIHM (short interval horizontal movements), and SHAKE (short stroked SIRV). The 36-minute period SIRV movements occurred at higher moisture levels. The 176-minute period SIHM occurred at lower moisture levels and ceased as the stress increased. The SHAKE movements were initiated with further stresses. The SLEEP (circadian, diurnal) movements ceased with further stress. The last to cease just prior to permanent wilting were the SHAKE movements. PMID:16659123

  17. SHORT COMMUNICATION Widespread occurrence of the

    E-print Network

    Hays, Graeme

    SHORT COMMUNICATION Widespread occurrence of the jellyfish Pelagia noctiluca in Irish coastal. Constrained by a benthic polyp stage, most scyphozoan jellyfish have a predominantly coastal distribution

  18. 18 CFR 415.1 - Short title.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 18 Conservation of Power and Water Resources 2 2011-04-01 2011-04-01 false Short title. 415.1 Section 415.1 Conservation of Power and Water Resources DELAWARE RIVER BASIN COMMISSION ADMINISTRATIVE MANUAL BASIN REGULATIONS-FLOOD PLAIN REGULATIONS Generally § 415.1 Short title. This part shall be...

  19. The Short Circuit Model of Reading.

    ERIC Educational Resources Information Center

    Lueers, Nancy M.

    The name "short circuit" has been given to this model because, in many ways, it adequately describes what happens bioelectrically in the brain. The "short-circuiting" factors include linguistic, sociocultural, attitudinal and motivational, neurological, perceptual, and cognitive factors. Research is reviewed on ways in which each one affects any…

  20. RESEARCH ARTICLE Short Term Minimum Water Temperatures

    E-print Network

    Carrascal, Luis M.

    RESEARCH ARTICLE Short Term Minimum Water Temperatures Determine Levels of Infection by the Amphibian Chytrid Fungus in Alytes obstetricans Tadpoles Saioa Fernández-Beaskoetxea1 , Luis M. Carrascal1 against water temperature, with the highest burdens of infection seen during the colder months. Short

  1. Short-term Inundation Forecast of Tsunami

    E-print Network

    SIFT Short-term Inundation Forecast of Tsunami Operational tsunami forecast system; combining real-time tsunami observations with numerical models to produce forecasts of tsunami wave arrival, amplitudes, and flooding Background and Overview The SIFT (Short-term Inunda:on for Forecas:ng Tsunamis

  2. SHORT-TUBE SUBCRITICAL FLOW Enerag Division

    E-print Network

    Oak Ridge National Laboratory

    water two phase critical flow [1-6]. In the air conditioning and refrigeration field, short tubes-tube subcritical flow. For short tubes used as refrigerant expansion devices, the orifice model is found inadequate/D) was not included. In this follow-up study, a separate correlation is formed so that the influence of L

  3. Measuring the short fiber content of cotton.

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Twenty-nine bales of cotton with short fiber content ranging from about five to twenty-five percent were selected for the purpose of comparing the effectiveness and relationships between current test methods for fiber length. These various instruments/methods used to measure short fiber included: H...

  4. SHORT ROTATION WOODY CROPS FACTSHEET SERIES # 6

    E-print Network

    Minnesota, University of

    SHORT ROTATION WOODY CROPS FACTSHEET SERIES # 6 Planting Willow Using Farmers' Traditional Method, Apostol K, Berguson W, Volk T, Wright J, Ogdahl E. (In Press). Short Rotation Woody Crops Production. In S biomass of 20 Mg (oven dry) ha-1 at the end of first rotation (3 years of growth). On the other hand, 31

  5. A girl with incomplete Prader-Willi syndrome and negative MS-PCR, found to have mosaic maternal UPD-15 at SNP array.

    PubMed

    Morandi, Anita; Bonnefond, Amélie; Lobbens, Stéphane; Carotenuto, Marco; Del Giudice, Emanuele Miraglia; Froguel, Philippe; Maffeis, Claudio

    2015-11-01

    The Prader-Willi syndrome (PWS) is caused by lack of expression of paternal allele of the 15q11.2-q13 region, due to deletions at paternal 15q11.2-q13 (<70%), maternal uniparental disomy of chromosome 15 (mat-UPD 15) (30%) or imprinting defects (1%). Hyperphagia, intellectual disabilities/behavioral disorders, neonatal hypotonia, and hypogonadism are cardinal features for PWS. Methylation sensitive PCR (MS-PCR) of the SNRPN locus, which assesses the presence of both the unmethylated (paternal) and the methylated (maternal) allele of 15q11.2-q13, is considered a sensitive reference technique for PWS diagnosis regardless of genetic subtype. We describe a 17-year-old girl with severe obesity, short stature, and intellectual disability, without hypogonadism and history of neonatal hypotonia, who was suspected to have an incomplete PWS. The MS-PCR showed a normal pattern with similar maternal and paternal electrophoretic bands. Afterwards, a SNP array showed the presence of iso-UPD 15, that is, UPD15 with two copies of the same chromosome 15, in about 50% of cells, suggesting a diagnosis of partial PWS due to mosaic maternal iso-UPD15 arisen as rescue of a post-fertilization error. A quantitative methylation analysis confirmed the presence of mosaic UPD15 in about 50% of cells. We propose that complete clinical criteria for PWS and MS-PCR should not be considered sensitive in suspecting and diagnosing partial PWS due to mosaic UPD15. In contrast, clinical suspicion based on less restrictive criteria followed by SNP array is a more powerful approach to diagnose atypical PWS due to UPD15 mosaicism. © 2015 Wiley Periodicals, Inc. PMID:26109092

  6. Short Signatures From Diffie-Hellman: Realizing Short Public Key Jae Hong Seo

    E-print Network

    International Association for Cryptologic Research (IACR)

    between the public key and random tags, which are part of signatures. Roughly speaking, we canShort Signatures From Diffie-Hellman: Realizing Short Public Key Jae Hong Seo Department short public key of ( log ) group elements. Then, we developed a new technique for asymmetric trade

  7. UltRa Lab @USC ShortShort--Range UltraRange Ultra--

    E-print Network

    Southern California, University of

    UltRa Lab @USC ShortShort--Range UltraRange Ultra-- Wideband SystemsWideband Systems R. A.R. A, Amherst #12;UltRa Lab @USC Features of a Rationale FCC Compliance Low Power Applications Short-Range and/or Low Data Rate Applications For a Given Center Frequency: "Ultra-Wide Bandwidth" Very Large Bandwidth

  8. Short-Distance Structure of Nuclei

    SciTech Connect

    Douglas Higinbotham, Eliazer Piasetzky, Stephen Wood

    2011-06-01

    One of Jefferson Lab's original missions was to further our understanding of the short-distance structure of nuclei. In particular, to understand what happens when two or more nucleons within a nucleus have strongly overlapping wave-functions; a phenomena commonly referred to as short-range correlations. Herein, we review the results of the (e,e'), (e,e'p) and (e,e'pN) reactions that have been used at Jefferson Lab to probe this short-distance structure as well as provide an outlook for future experiments.

  9. Precursors of Short Gamma-Ray Bursts

    NASA Technical Reports Server (NTRS)

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

    2010-01-01

    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.

  10. Compilation techniques for short-vector instructions

    E-print Network

    Larsen, Samuel (Samuel Barton), 1975-

    2006-01-01

    Multimedia extensions are nearly ubiquitous in today's general-purpose processors. These extensions consist primarily of a set of short-vector instructions that apply the same opcode to a vector of operands. This design ...

  11. A Short Introduction to this Volume

    NASA Astrophysics Data System (ADS)

    Baracca, Angelo; Renn, Jürgen; Wendt, Helge

    This volume opens with a personal perspective on the history of Cuba by Angelo Baracca. It is followed by a short critical bibliography by Duccio Basosi that gives an overview of historical studies on different periods of Cuban history.

  12. SHORT COMMUNICATIONS ORNITOLOGIA NEOTROPICAL 15: 543545, 2004

    E-print Network

    McCracken, Kevin G.

    , Department of Biology and Wildlife, and University of Alaska Museum, University of Alaska Fairbanks collection database at http://arctos.database.museum. #12;545 SHORT COMMUNICATIONS solid black in 100

  13. Short winters threaten temperate fish populations.

    PubMed

    Farmer, Troy M; Marschall, Elizabeth A; Dabrowski, Konrad; Ludsin, Stuart A

    2015-01-01

    Although climate warming is expected to benefit temperate ectotherms by lengthening the summer growing season, declines in reproductive success following short, warm winters may counter such positive effects. Here we present long-term (1973-2010) field patterns for Lake Erie yellow perch, Perca flavescens, which show that failed annual recruitment events followed short, warm winters. Subsequent laboratory experimentation and field investigations revealed how reduced reproductive success following short, warm winters underlie these observed field patterns. Following short winters, females spawn at warmer temperatures and produce smaller eggs that both hatch at lower rates and produce smaller larvae than females exposed to long winters. Our research suggests that continued climate warming can lead to unanticipated, negative effects on temperate fish populations. PMID:26173734

  14. Vasek Chvatal A Very Short Introduction

    E-print Network

    Avis, David

    Vasek Chv´atal A Very Short Introduction David Avis1 , Adrian Bondy2 , William Cook3 , Bruce Reed4 publications, notably [16]. Vasek subsequently wrote a series of papers with Frank Harary where they introduced

  15. Intentionally Short-Range Communications (ISRC)

    NASA Astrophysics Data System (ADS)

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

    1994-02-01

    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.

  16. Short winters threaten temperate fish populations

    NASA Astrophysics Data System (ADS)

    Farmer, Troy M.; Marschall, Elizabeth A.; Dabrowski, Konrad; Ludsin, Stuart A.

    2015-07-01

    Although climate warming is expected to benefit temperate ectotherms by lengthening the summer growing season, declines in reproductive success following short, warm winters may counter such positive effects. Here we present long-term (1973-2010) field patterns for Lake Erie yellow perch, Perca flavescens, which show that failed annual recruitment events followed short, warm winters. Subsequent laboratory experimentation and field investigations revealed how reduced reproductive success following short, warm winters underlie these observed field patterns. Following short winters, females spawn at warmer temperatures and produce smaller eggs that both hatch at lower rates and produce smaller larvae than females exposed to long winters. Our research suggests that continued climate warming can lead to unanticipated, negative effects on temperate fish populations.

  17. Short winters threaten temperate fish populations

    PubMed Central

    Farmer, Troy M.; Marschall, Elizabeth A.; Dabrowski, Konrad; Ludsin, Stuart A.

    2015-01-01

    Although climate warming is expected to benefit temperate ectotherms by lengthening the summer growing season, declines in reproductive success following short, warm winters may counter such positive effects. Here we present long-term (1973–2010) field patterns for Lake Erie yellow perch, Perca flavescens, which show that failed annual recruitment events followed short, warm winters. Subsequent laboratory experimentation and field investigations revealed how reduced reproductive success following short, warm winters underlie these observed field patterns. Following short winters, females spawn at warmer temperatures and produce smaller eggs that both hatch at lower rates and produce smaller larvae than females exposed to long winters. Our research suggests that continued climate warming can lead to unanticipated, negative effects on temperate fish populations. PMID:26173734

  18. Texas Watershed Planning Short Course Final Report 

    E-print Network

    Wagner, Kevin

    2010-01-01

    Environmental Research to develop and conduct this short course. Since 2008, four week-long Watershed Planning Short Courses have been hosted, providing training to over 160 watershed professionals on sustainable proactive approaches to managing water quality... with watershed management tools provided by the U.S. Environmental Protection Agency included Getting In Step Workshops and Key EPA Internet Tools for Watershed Management courses. ?e Getting In Step Workshop aims to improve the effectiveness of nonpoint...

  19. Automatic Short -Answer Grading System (ASAGS)

    E-print Network

    Selvi, P

    2010-01-01

    Automatic assessment needs short answer based evaluation and automated assessment. Various techniques used are Ontology, Semantic similarity matching and Statistical methods. An automatic short answer assessment system is attempted in this paper. Through experiments performed on a data set, we show that the semantic ASAGS outperforms methods based on simple lexical matching; resulting is up to 59 percent with respect to the traditional vector-based similarity metric.

  20. Metaphyseal Engaging Short and Ultra-Short Anatomic Cementless Stems in Young and Active Patients.

    PubMed

    Kim, Young-Hoo; Park, Jang-Won; Kim, Jun-Shik

    2016-01-01

    We report 400 patients (mean age, 53years) who received a short stem (17.8years of follow-up) and 201 patients (mean age 53years) who received an ultra-short stem (12.3years of follow-up). At the final follow-up, the mean Harris hip score, WOMAC score and the mean UCLA activity scores were not different between two groups. No patient had thigh pain in either group. Two hips (0.3%) in the short stem group were revised because of early postoperative infection and one hip (0.2%) in the ultra-short stem group was revised for fracture of the proximal femur. Metaphyseal engaging short and ultra-short anatomic cementless stem without diaphyseal fixation provided long-term durable fixation in young and active patients. PMID:26300282

  1. 40 CFR 86.1427 - Certification Short Test procedure; overview.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ...2010-07-01 false Certification Short Test procedure; overview. 86.1427 Section...Otto-Cycle Light-Duty Trucks; Certification Short Test Procedures § 86.1427 Certification Short Test procedure; overview. (a) The...

  2. 40 CFR 86.1427 - Certification Short Test procedure; overview.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ...2012-07-01 false Certification Short Test procedure; overview. 86.1427 Section...Otto-Cycle Light-Duty Trucks; Certification Short Test Procedures § 86.1427 Certification Short Test procedure; overview. (a) The...

  3. 40 CFR 86.1427 - Certification Short Test procedure; overview.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ...2013-07-01 false Certification Short Test procedure; overview. 86.1427 Section...Otto-Cycle Light-Duty Trucks; Certification Short Test Procedures § 86.1427 Certification Short Test procedure; overview. (a) The...

  4. 40 CFR 86.1427 - Certification Short Test procedure; overview.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ...2011-07-01 false Certification Short Test procedure; overview. 86.1427 Section...Otto-Cycle Light-Duty Trucks; Certification Short Test Procedures § 86.1427 Certification Short Test procedure; overview. (a) The...

  5. Naked Short Selling: Is it Information-Based Trading? 

    E-print Network

    Liu, Hu

    2012-10-19

    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...

  6. 30 CFR 56.12065 - Short circuit and lightning protection.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ...2014-07-01 2014-07-01 false Short circuit and lightning protection. 56... Electricity § 56.12065 Short circuit and lightning protection. ...circuits shall be protected against short circuits and...

  7. 30 CFR 57.12065 - Short circuit and lightning protection.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ...2013-07-01 2013-07-01 false Short circuit and lightning protection. 57... Surface Only § 57.12065 Short circuit and lightning protection. ...circuits shall be protected against short circuits and...

  8. 30 CFR 57.12065 - Short circuit and lightning protection.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ...2011-07-01 2011-07-01 false Short circuit and lightning protection. 57... Surface Only § 57.12065 Short circuit and lightning protection. ...circuits shall be protected against short circuits and...

  9. 30 CFR 56.12065 - Short circuit and lightning protection.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ...2013-07-01 2013-07-01 false Short circuit and lightning protection. 56... Electricity § 56.12065 Short circuit and lightning protection. ...circuits shall be protected against short circuits and...

  10. 19 CFR 357.103 - Petitions for short supply allowances.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ...2011-04-01 false Petitions for short supply allowances. 357.103 Section 357...ADMINISTRATION, DEPARTMENT OF COMMERCE SHORT SUPPLY PROCEDURES § 357.103 Petitions for short supply allowances. An interested party...

  11. 19 CFR 357.102 - Short supply allowances.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ...2010-04-01 2010-04-01 false Short supply allowances. 357.102 Section 357.102...ADMINISTRATION, DEPARTMENT OF COMMERCE SHORT SUPPLY PROCEDURES § 357.102 Short supply allowances. (a) The Secretary will...

  12. 19 CFR 357.103 - Petitions for short supply allowances.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ...2010-04-01 false Petitions for short supply allowances. 357.103 Section 357...ADMINISTRATION, DEPARTMENT OF COMMERCE SHORT SUPPLY PROCEDURES § 357.103 Petitions for short supply allowances. An interested party...

  13. 19 CFR 357.102 - Short supply allowances.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ...2011-04-01 2011-04-01 false Short supply allowances. 357.102 Section 357.102...ADMINISTRATION, DEPARTMENT OF COMMERCE SHORT SUPPLY PROCEDURES § 357.102 Short supply allowances. (a) The Secretary will...

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

    PubMed Central

    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

    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

  15. Means for limiting and ameliorating electrode shorting

    SciTech Connect

    Konynenburg, R.A. van; Farmer, J.C.

    1999-11-09

    A fuse and filter arrangement is described 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.

  16. Means for limiting and ameliorating electrode shorting

    DOEpatents

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

    1999-01-01

    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.

  17. The quiet short-haul research aircraft

    NASA Technical Reports Server (NTRS)

    Cochrane, J. A.

    1983-01-01

    The design concepts, performance capabilities, and projected applications of the Quiet Short-Haul Research Aircraft (QSRA) are discussed. The propulsive lift system of the QSRA provides the lift required for short field operations at low community noise levels. This system consists of four high bipass ratio, geared turbofan engines mounted so that the engine exhaust flows across the upper surface of the wing (upper surface blowing). Large specially shaped flaps behind each engine control the direction of the flow for each phase of flight. A 95 passenger short haul transport based on this technology could operate out of a 2500 foot runway with a combined takeoff and landing 90 EPNdB footprint area of 2.7 sq mi.

  18. The origin of short-period comets

    SciTech Connect

    Bailey, M.E.; Stagg, C.R. Calgary Univ. )

    1990-07-01

    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.

  19. Correlation dynamics after short-pulse photoassociation

    SciTech Connect

    Koch, Christiane P.; Kosloff, Ronnie

    2010-06-15

    Two atoms in an ultracold gas are correlated at short interatomic distances due to threshold effects in which the potential energy of their interaction dominates the kinetic energy. The correlations manifest themselves in a distinct nodal structure of the density matrix at short interatomic distances. Pump-probe spectroscopy has recently been suggested [Phys. Rev. Lett. 103, 260401 (2009)] to probe these pair correlations: A suitably chosen, short photoassociation laser pulse depletes the ground-state pair density within the photoassociation window, creating a nonstationary wave packet in the electronic ground state. The dynamics of this nonstationary wave packet is monitored by time-delayed probe and ionization pulses. Here we discuss how the choice of the pulse parameters affects the experimental feasibility of this pump-probe spectroscopy of two-body correlations.

  20. The Long and the Short of It: The Use of Short Films in the German Classroom

    ERIC Educational Resources Information Center

    Sundquist, John

    2010-01-01

    This article focuses on the benefits of using short film in the German classroom at the secondary or post-secondary level. The article addresses a number of characteristics of short films that lend themselves well to the classroom, including their abbreviated length, artistic innovation, and compact storytelling. In addition to discussing specific…

  1. A short overview of the "Topological recursion"

    E-print Network

    B. Eynard

    2014-12-12

    This review is an extended version of the Seoul ICM 2014 proceedings.It is a short overview of the "topological recursion", a relation appearing in the asymptotic expansion of many integrable systems and in enumerative problems. We recall how computing large size asymptotics in random matrices, has allowed to discover some fascinating and ubiquitous geometric invariants. Specializations of this method recover many classical invariants, like Gromov--Witten invariants, or knot polynomials (Jones, HOMFLY,...). In this short review, we give some examples, give definitions, and review some properties and applications of the formalism.

  2. Shorting pipeline and jacket cathodic protection systems

    SciTech Connect

    Thomason, W.H. ); Evans, S. ); Rippon, I.J. ); Maurin, A.E. III )

    1993-09-01

    The benefits of shorting pipeline and jacket cathodic protection (CP) systems for the external protection of subsea pipelines based on data from operations in the Gulf of Mexico, Persian Gulf, North Sea, and Indonesia are discussed. Shorting, as opposed to traditional electrical isolation, is cost effective because CP surveys and future retrofits are greatly simplified. Jacket CP systems can provide protection of coated pipelines for distances much greater than normally anticipated. Some simple modeling of jacket/pipeline CP systems is used to illustrate the effect of various design parameters.

  3. Short-Term Farm Credit in Texas. 

    E-print Network

    Lee, Virgil P.

    1927-01-01

    BWftbIRGI 188-127-18.M-L180 TEYAS AGRICULTURAL EXPERIMENT STATION B. YOUNGBLOOD, DIRECTOR COLLEGE STATION, BRAZOS COUNTY, TEXAS BULLETIN NO. 351 MARCH, 1927 DIVISION OF FARM AND RANCH ECONOMICS SHORT-TERM FARM CREDIT IN TEXAS AGRICULTURAL... .................................................. TIN NO. 351 MARCH, 1927 SHORT-TERM FARM CREDIT IN TEXAS V. P. LEE A large percentage of Texas farmers obtain a part of the equipment, supplies, and labor needed during the year with borrowed money or on charge accounts. Whether this extensive...

  4. Multiconductor Short/Open Cable Tester

    NASA Technical Reports Server (NTRS)

    Eichenberg, Dennis

    1994-01-01

    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.

  5. libgapmis: extending short-read alignments

    PubMed Central

    2013-01-01

    Background A wide variety of short-read alignment programmes have been published recently to tackle the problem of mapping millions of short reads to a reference genome, focusing on different aspects of the procedure such as time and memory efficiency, sensitivity, and accuracy. These tools allow for a small number of mismatches in the alignment; however, their ability to allow for gaps varies greatly, with many performing poorly or not allowing them at all. The seed-and-extend strategy is applied in most short-read alignment programmes. After aligning a substring of the reference sequence against the high-quality prefix of a short read--the seed--an important problem is to find the best possible alignment between a substring of the reference sequence succeeding and the remaining suffix of low quality of the read--extend. The fact that the reads are rather short and that the gap occurrence frequency observed in various studies is rather low suggest that aligning (parts of) those reads with a single gap is in fact desirable. Results In this article, we present libgapmis, a library for extending pairwise short-read alignments. Apart from the standard CPU version, it includes ultrafast SSE- and GPU-based implementations. libgapmis is based on an algorithm computing a modified version of the traditional dynamic-programming matrix for sequence alignment. Extensive experimental results demonstrate that the functions of the CPU version provided in this library accelerate the computations by a factor of 20 compared to other programmes. The analogous SSE- and GPU-based implementations accelerate the computations by a factor of 6 and 11, respectively, compared to the CPU version. The library also provides the user the flexibility to split the read into fragments, based on the observed gap occurrence frequency and the length of the read, thereby allowing for a variable, but bounded, number of gaps in the alignment. Conclusions We present libgapmis, a library for extending pairwise short-read alignments. We show that libgapmis is better-suited and more efficient than existing algorithms for this task. The importance of our contribution is underlined by the fact that the provided functions may be seamlessly integrated into any short-read alignment pipeline. The open-source code of libgapmis is available at http://www.exelixis-lab.org/gapmis. PMID:24564250

  6. Treatment of a Prader-Willi Patient with Recurrent Catatonia

    PubMed Central

    Poser, Hana M.; Trutia, Alexandru E.

    2015-01-01

    Prader-Willi is a genetic disorder characterized by neonatal hypotonia, hyperphagia, short stature, hypogonadism, and mental delay. This disorder can result from multiple mechanisms, most commonly a deletion of paternal chromosome 15, leaving a single maternally derived chromosome 15. Individuals who have a maternal uniparental disomy of chromosome 15 have a higher risk for developing psychosis compared to other forms of Prader-Willi. The following report details the treatment course of a 24-year-old female with Prader-Willi and recurrent catatonia. The patient initially had a positive lorazepam challenge test but subsequently failed treatment with benzodiazepines. She then received eight electroconvulsive therapy (ECT) treatments after which she showed improvement from initial catatonic state. However, the resolution in her symptoms did not follow a linear course but would show periods of improvement followed by a return of catatonic features. This case provides an example of the complexity of treatment of a patient with a genetic disorder and recurrent catatonia. PMID:26064753

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

    PubMed

    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

    2015-03-01

    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

  8. Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.

    PubMed

    Boycott, Kym M; Beaulieu, Chandree L; Kernohan, Kristin D; Gebril, Ola H; Mhanni, Aziz; Chudley, Albert E; Redl, David; Qin, Wen; Hampson, Sarah; Küry, Sébastien; Tetreault, Martine; Puffenberger, Erik G; Scott, James N; Bezieau, Stéphane; Reis, André; Uebe, Steffen; Schumacher, Johannes; Hegele, Robert A; McLeod, D Ross; Gálvez-Peralta, Marina; Majewski, Jacek; Ramaekers, Vincent T; Nebert, Daniel W; Innes, A Micheil; Parboosingh, Jillian S; Abou Jamra, Rami

    2015-12-01

    Manganese (Mn) and zinc (Zn) are essential divalent cations used by cells as protein cofactors; various human studies and animal models have demonstrated the importance of Mn and Zn for development. Here we describe an autosomal-recessive disorder in six individuals from the Hutterite community and in an unrelated Egyptian sibpair; the disorder is characterized by intellectual disability, developmental delay, hypotonia, strabismus, cerebellar atrophy, and variable short stature. Exome sequencing in one affected Hutterite individual and the Egyptian family identified the same homozygous variant, c.112G>C (p.Gly38Arg), affecting a conserved residue of SLC39A8. The affected Hutterite and Egyptian individuals did not share an extended common haplotype, suggesting that the mutation arose independently. SLC39A8 is a member of the solute carrier gene family known to import Mn, Zn, and other divalent cations across the plasma membrane. Evaluation of these two metal ions in the affected individuals revealed variably low levels of Mn and Zn in blood and elevated levels in urine, indicating renal wasting. Our findings identify a human Mn and Zn transporter deficiency syndrome linked to SLC39A8, providing insight into the roles of Mn and Zn homeostasis in human health and development. PMID:26637978

  9. Three Siblings with Prader-Willi Syndrome: Brief Review of Sleep and Prader-Willi Syndrome

    PubMed Central

    Bingeliene, Arina; Shapiro, Colin M.; Chung, Sharon A.

    2015-01-01

    Prader-Willi syndrome (PWS) is a genetic disorder characterized by short stature, mental retardation, hypotonia, functionally deficient gonads, and uncontrolled appetite leading to extreme obesity at an early age. Patients with this condition require multidisciplinary medical care, which facilitates a significant improvement in quality of life. PWS is the first human disorder to be attributed to genomic imprinting. Prevalence varies in the literature, ranging from 1 in 8,000 in the Swedish population to 1 in 54,000 in the United Kingdom. Rarely, the genetic mechanism responsible for Prader-Willi syndrome can be inherited. We report a highly unique case of three siblings who share this condition. This report describes a case of two brothers and one half sister with PWS. All three siblings have sleep-related complaints. The sister died at the age of 24 years in her sleep, with the cause of death reported as obstructive sleep apnea. The outcome was positive in both of the brothers' cases as a result of professional medical care and specific tailored recommendations implemented by their mother. A review of the relevant literature vis-à-vis sleep and PWS is provided. PMID:26613054

  10. Reading Abilities and Strategies: A Short Introduction

    ERIC Educational Resources Information Center

    Liu, Feng

    2010-01-01

    This paper gives a short analysis of reading abilities and reading strategies. Much research has been done to investigate the nature of reading, though it's had to exactly define reading abilities and strategies. Different kinds of readings are discussed in this paper and distinctions are made between first language reading and second or foreign…

  11. Electricity and short wavelength radiation generator

    DOEpatents

    George, E.V.

    1985-08-26

    Methods and associated apparati for use of collisions of high energy atoms and ions of He, Ne, or Ar with themselves or with high energy neutrons to produce short wavelength radiation (lambda approx. = 840-1300 A) that may be utilized to produce cathode-anode currents or photovoltaic currents.

  12. Facts on Aging: A Short Quiz

    ERIC Educational Resources Information Center

    Palmore, Erdman

    1977-01-01

    A short, factual, and documented quiz is developed and tested which covers the basic facts and frequent misconceptions about aging. Its uses include stimulating discussion, measuring levels of information and anti-aged bias, identifying the most frequent misconceptions, measuring the effects of courses, and measuring changes in public information…

  13. SHORT COMMUNICATION Chiral Enrichment of Serine

    E-print Network

    Clemmer, David E.

    SHORT COMMUNICATION Chiral Enrichment of Serine via Formation, Dissociation, and Soft University, Bloomington, Indiana, USA Chiral enrichment of serine is achieved in experiments that involve of chirally-enriched octameric cluster ions and their dissociation, viz. Ser1 3 Ser8 3 Ser1, allows serine

  14. Aircraft concepts for advanced short haul systems

    NASA Technical Reports Server (NTRS)

    Galloway, T. L.

    1975-01-01

    The results of recent NASA-sponsored high-density and medium-density short-haul (less than 500 miles) air transportation systems studies are summarized. Trends in vehicle characteristics, in particular of RTOL and STOL concepts, are noted, and their economic suitability and impact on the community are examined.

  15. Short Historical Fiction To Get Children Reading.

    ERIC Educational Resources Information Center

    Sullivan, Kathleen

    1997-01-01

    Provides an annotated bibliography of short historical fiction and picture books for readers in grades K-8. Includes a list of selected Caldecott and Newbery winners with historical themes or backgrounds and a list of activity books featuring Spanish exploration in Mexico, Roman art and fashion, medieval Europe, and cowboys. (PEN)

  16. Vaccine 24 (2006) 38813888 Short communication

    E-print Network

    Earl, David J.

    2006-01-01

    Vaccine 24 (2006) 3881­3888 Short communication Quantifying influenza vaccine efficacy 2006 Abstract We introduce a new measure of antigenic distance between influenza A vaccine of the annual vaccine between 1971 and 2004, as do results of a theory of the immune response to influenza

  17. Textbook Error: Short Circuiting on Electrochemical Cell

    ERIC Educational Resources Information Center

    Bonicamp, Judith M.; Clark, Roy W.

    2007-01-01

    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…

  18. Blacks in Pop Music: A Short Story.

    ERIC Educational Resources Information Center

    Rickelman, Melinda

    1991-01-01

    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)

  19. GSFC short pulse radar, JONSWAP-75

    NASA Technical Reports Server (NTRS)

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

    1977-01-01

    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.

  20. Nonperturbative short-range dynamics in TMDs

    SciTech Connect

    Weiss, Christian

    2013-05-01

    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.

  1. Short notes Toe regeneration in the

    E-print Network

    Hödl, Walter

    83 Short notes Toe regeneration in the neotropical frog Allobates femoralis Eva Ursprung1 , Max, University of Salford, UK Toe-clipping is a standard method for marking and tissue sampling in amphibians, and in most adult anurans such marks are permanent. Here we document the consistent regeneration of toes

  2. Short summary of multispectral imaging systems

    NASA Technical Reports Server (NTRS)

    Slater, P. N.

    1983-01-01

    This paper summarizes a survey of over 40 multispectral imaging systems that have been used during the past decade for earth resources studies from aircraft or spacecraft, or are presently in the proposal or design and development stage. In addition, some short wave infrared systems are described including a recent NASA suggestion for a research remote sensing system for the 1990's.

  3. The short GRB 051210 observed by Swift

    E-print Network

    V. La Parola; V. Mangano; B. Zhang; G. Cusumano; T. Mineo; E. Troja; D. N. Burrows; S. Campana; M. Capalbi; G. Chincarini; P. Giommi; A. Moretti; M. Perri; P. Romano; G. Tagliaferri

    2007-01-29

    We report on the short GRB051210 detected by the Swift-BAT. The light curve, on which we focus mainly, shows a hint of extended emission in the BAT energy range, a steep decay of the X-ray emission, without any flattening or break, and two small flares in the first 300 sec. The emission fades out after ~1000 s.

  4. On double reduction of short pulse equation

    NASA Astrophysics Data System (ADS)

    Hong, Joseph Boon Zik; Fakhar, Kamran; Ahmad, Shamsuddin; Kara, Abdul Hamid

    2015-10-01

    In this paper, the association between the Lie symmetry and conservation law termed as `double reduction' has been employed to study the Short Pulse Equation (SPE), which describes the pulse propagation in optical fibers. Few reductions have been performed and appropriate conclusions are drawn.

  5. SHORT REVIEW Ecological genomics: understanding gene and

    E-print Network

    Herman, Mike

    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

  6. Short Curriculum Vitae David K. Adams

    E-print Network

    Grutter, Michel

    Nacional de Pesquisa da Amazônia, Manaus, Amazonas, Brazil. Visiting Professor (Spring 2006) -- DepartmentShort Curriculum Vitae David K. Adams Centro de Ciencias de la Atmósfera Universidad Nacional Nacional Autónoma de México, Mexico City, Mexico. Affiliate (2012 - present) Department of Atmospheric

  7. Improving Reproductive Performance: Long and Short Term

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Improvements in reproductive performance for beef herds can be classified as short term (current year) or long term (lifetime production) and can be applied to and measured in individual animals or the entire herd. In other species, results show that rearing young animals under caloric restriction ...

  8. WRITING SHORT TECHNICAL REPORTS Wallace J. Hopp

    E-print Network

    Vardeman, Stephen B.

    WRITING SHORT TECHNICAL REPORTS Wallace J. Hopp Department of Industrial Engineering and Management in a technical report. Saying that the plant is a ``disaster'' or a ``real mess'' may be more colorful than of formal, conservative language. · Avoid long, complicated sentences. A technical report is not a work

  9. Collis-Nissen gastroplasty for short oesophagus.

    PubMed

    Mattioli, Sandro; Lugaresi, Marialuisa; Ruffato, Alberto; Daddi, Niccolò; Di Simone, Massimo Pierluigi; Perrone, Ottorino; Brusori, Stefano

    2015-01-01

    The Collis-Nissen procedure is performed for the surgical treatment of 'true short oesophagus'. When this condition is strongly suspected radiologically, the patient is placed in the 45° left lateral position on the operating table with the left chest and arm lifted to perform a thoracostomy in the V-VI space, posterior to the axillary line. The hiatus is opened and the distal oesophagus is widely mobilized. With intraoperative endoscopy, the position of the oesophago-gastric junction in relationship to the hiatus is determined and the measurement of the length of the intra-abdominal oesophagus is performed to decide either to carry out a standard anti-reflux procedure or to lengthen the oesophagus. If the oesophagus is irreversibly short ('true short oesophagus'), the short gastric vessels are divided and the gastric fundus is mobilized. An endostapler is introduced into the left chest. The left thoracoscopic approach is suitable to control effectively the otherwise blind passage of the endostapler into the mediastinum and upper abdomen (if a second optic is not used). The tip of the stapler is clearly visible while 'walking' on the left diaphragm. The Collis gastroplasty is performed over a 46 Maloney bougie. A floppy Nissen fundoplication and the hiatoplasty complete the procedure. PMID:26585969

  10. A Short History of Three Chemical Shifts

    ERIC Educational Resources Information Center

    Nagaoka, Shin-ichi

    2007-01-01

    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…

  11. SHORT REVIEW Statistical tests of selective neutrality

    E-print Network

    Nielsen, Rasmus

    SHORT REVIEW Statistical tests of selective neutrality in the age of genomics RASMUS NIELSEN. Keywords: Darwinian selection, neutral evolution, nonsyn- onymous mutations, statistical tests, synonymous are selectively neutral, testing the neutral hypothesis has been one of the prime objectives of molecular

  12. On integrating out short-distance physics

    E-print Network

    Vladimir Kalitvianski

    2015-10-11

    I consider a special atomic scattering problem where the target atom has distinct soft and hard excitation modes. I demonstrate that in this problem the integration out of short-distance physics occurs automatically in the perturbative calculations, i.e., without any cutoff. I propose to build QFT in a similar way.

  13. Famous Indians: A Collection of Short Biographies.

    ERIC Educational Resources Information Center

    Bureau of Indian Affairs (Dept. of Interior), Washington, DC.

    A collection of 20 short biographies of American Indian warriors, statesmen, prophets, and scholars highlights leaders in the often tragic, yet inspiring, saga of North American Indians. Most of the heroes and heroines whose lives are briefly described were chiefs; some of them have become famous around the world. All were leaders in a great…

  14. Teaching Hemingway's "The Short Happy Life."

    ERIC Educational Resources Information Center

    Stacy, Gerald

    2000-01-01

    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…

  15. Teaching Trickster Figures in Short Fiction.

    ERIC Educational Resources Information Center

    McKenna, John J.

    2001-01-01

    Discusses the figure of the trickster, a character who lives by his or her own wits. Proposes getting students to the point of sympathetic understanding of the trickster is often not easy. Outlines three examples of the trickster in short fiction. (PM)

  16. SHORT COMMUNICATIONS ORNITOLOGIA NEOTROPICAL 23: 287290, 2012

    E-print Network

    McCracken, Kevin G.

    Society PARASITISM AND JOINT INCUBATION OF UPLAND GOOSE (CHLOEPHAGA PICTA) NEST BY YELLOW-BILLED PINTAIL the next bowl. On 1 November 2011, we observed a Yel- low-billed Pintail and Upland Goose (Chloe- phaga and Upland Goose flushed together for a short period of flight (Fig. 1B). The nest contained five Upland

  17. A hybrid short read mapping accelerator

    PubMed Central

    2013-01-01

    Background The rapid growth of short read datasets poses a new challenge to the short read mapping problem in terms of sensitivity and execution speed. Existing methods often use a restrictive error model for computing the alignments to improve speed, whereas more flexible error models are generally too slow for large-scale applications. A number of short read mapping software tools have been proposed. However, designs based on hardware are relatively rare. Field programmable gate arrays (FPGAs) have been successfully used in a number of specific application areas, such as the DSP and communications domains due to their outstanding parallel data processing capabilities, making them a competitive platform to solve problems that are “inherently parallel”. Results We present a hybrid system for short read mapping utilizing both FPGA-based hardware and CPU-based software. The computation intensive alignment and the seed generation operations are mapped onto an FPGA. We present a computationally efficient, parallel block-wise alignment structure (Align Core) to approximate the conventional dynamic programming algorithm. The performance is compared to the multi-threaded CPU-based GASSST and BWA software implementations. For single-end alignment, our hybrid system achieves faster processing speed than GASSST (with a similar sensitivity) and BWA (with a higher sensitivity); for pair-end alignment, our design achieves a slightly worse sensitivity than that of BWA but has a higher processing speed. Conclusions This paper shows that our hybrid system can effectively accelerate the mapping of short reads to a reference genome based on the seed-and-extend approach. The performance comparison to the GASSST and BWA software implementations under different conditions shows that our hybrid design achieves a high degree of sensitivity and requires less overall execution time with only modest FPGA resource utilization. Our hybrid system design also shows that the performance bottleneck for the short read mapping problem can be changed from the alignment stage to the seed generation stage, which provides an additional requirement for the future development of short read aligners. PMID:23441908

  18. Integrating Sequential Arrays in Visual Short-Term Memory

    E-print Network

    Jiang, Yuhong

    Integrating Sequential Arrays in Visual Short-Term Memory Yuhong Jiang, Arjun Kumar, and Timothy J as separate images or as a combined image in visual short-term memory (VSTM)? Proponents of the integration: visual short-term memory, visual integration Introduction Visual short-term memory (VSTM) allows a visual

  19. 19 CFR 357.102 - Short supply allowances.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... 19 Customs Duties 3 2012-04-01 2012-04-01 false Short supply allowances. 357.102 Section 357.102 Customs Duties INTERNATIONAL TRADE ADMINISTRATION, DEPARTMENT OF COMMERCE SHORT SUPPLY PROCEDURES § 357.102 Short supply allowances. (a) The Secretary will authorize a short supply allowance if: (1)...

  20. 19 CFR 357.102 - Short supply allowances.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 19 Customs Duties 3 2011-04-01 2011-04-01 false Short supply allowances. 357.102 Section 357.102 Customs Duties INTERNATIONAL TRADE ADMINISTRATION, DEPARTMENT OF COMMERCE SHORT SUPPLY PROCEDURES § 357.102 Short supply allowances. (a) The Secretary will authorize a short supply allowance if: (1)...

  1. 19 CFR 357.102 - Short supply allowances.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 19 Customs Duties 3 2010-04-01 2010-04-01 false Short supply allowances. 357.102 Section 357.102 Customs Duties INTERNATIONAL TRADE ADMINISTRATION, DEPARTMENT OF COMMERCE SHORT SUPPLY PROCEDURES § 357.102 Short supply allowances. (a) The Secretary will authorize a short supply allowance if: (1)...

  2. 19 CFR 207.27 - Short life cycle products.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... 19 Customs Duties 3 2012-04-01 2012-04-01 false Short life cycle products. 207.27 Section 207.27... SUBSIDIZED EXPORTS TO THE UNITED STATES Final Determinations, Short Life Cycle Products § 207.27 Short life... short life cycle merchandise which has been the subject of two or more affirmative...

  3. 19 CFR 207.27 - Short life cycle products.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... 19 Customs Duties 3 2013-04-01 2013-04-01 false Short life cycle products. 207.27 Section 207.27... SUBSIDIZED EXPORTS TO THE UNITED STATES Final Determinations, Short Life Cycle Products § 207.27 Short life... short life cycle merchandise which has been the subject of two or more affirmative...

  4. 19 CFR 207.27 - Short life cycle products.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... 19 Customs Duties 3 2014-04-01 2014-04-01 false Short life cycle products. 207.27 Section 207.27... SUBSIDIZED EXPORTS TO THE UNITED STATES Final Determinations, Short Life Cycle Products § 207.27 Short life... short life cycle merchandise which has been the subject of two or more affirmative...

  5. Formulas Resilient to Short-Circuit Errors Yael Tauman Kalai

    E-print Network

    Rao, Anup

    Formulas Resilient to Short-Circuit Errors Yael Tauman Kalai Allison Lewko Anup Rao Abstract We to short-circuit errors (as introduced by Kleitman et al. [KLM94]). A gate has a short-circuit error when, starting with the seminal work of Von Neumann in 1956 [vN56]. In this work, we consider short-circuit

  6. Transverse Effect due to Short-range Resistive Wall Wakefield

    SciTech Connect

    Juhao Wu; Alex Chao; Jean Delayen

    2007-06-18

    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.

  7. 19 CFR 207.27 - Short life cycle products.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 19 Customs Duties 3 2010-04-01 2010-04-01 false Short life cycle products. 207.27 Section 207.27... SUBSIDIZED EXPORTS TO THE UNITED STATES Final Determinations, Short Life Cycle Products § 207.27 Short life... short life cycle merchandise which has been the subject of two or more affirmative...

  8. Heterogeneity in Short Gamma-Ray Bursts

    NASA Technical Reports Server (NTRS)

    Norris, Jay P.; Gehrels Neil; Scargle, Jeffrey D.

    2011-01-01

    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 approx 2-3 longer than for non-EE bursts. A trend previously reported by Hakkila and colleagues unifying long and short bursts - the anti-correlation of pulse intensity and width - continues in the two short burst groups, with non-EE bursts extending to more intense, narrower pulses. In addition we find that preceding and succeeding pulse intensities are anti-correlated with pulse interval. 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 (approx 6 X 10(exp -10) erg / sq cm/ s) is approx > 20 x brighter than for non-EE bursts, and the median X-ray afterglow duration for EE bursts (approx 60,000 s) is approx 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 injections powering the afterglows. The longer-lasting X-ray afterglows of EE bursts may suggest that a significant fraction explode into more dense environments than non-EE bursts, or that the sometimes-dominant EE component efficiently p()wers the afterglow. Combined, these results favor different progenitors for EE and non-EE short bursts.

  9. Short-time diffusivity of dicolloids

    NASA Astrophysics Data System (ADS)

    Panczyk, Mark M.; Wagner, Norman J.; Furst, Eric M.

    2014-06-01

    The short-time diffusivity of dicolloid particles as a function of particle volume fraction ? from 0.01???0.6 is measured using diffusing wave spectroscopy. The diffusivities of symmetric and asymmetric dicolloids are compared with similarly sized spheres. The short-time diffusivity is independent of salt concentration and decreases with increasing volume fraction for both spheres and asymmetric dicolloids. Symmetric dicolloids have a higher diffusivity than spheres at similar volume fractions. This difference is accounted for by rescaling the dicolloid volume fraction based on the ratio of the random close-packing volume fractions of spheres and dicolloids. Finally, a useful method is provided for calculating the diffusivity of symmetric dicolloid particles of arbitrary aspect ratio based on the calculated hydrodynamic resistance of Zabarankin [Proc. R. Soc. A 463, 2329 (2007), 10.1098/rspa.2007.1872].

  10. Short-time diffusivity of dicolloids.

    PubMed

    Panczyk, Mark M; Wagner, Norman J; Furst, Eric M

    2014-06-01

    The short-time diffusivity of dicolloid particles as a function of particle volume fraction ? from 0.01 ? ? ? 0.6 is measured using diffusing wave spectroscopy. The diffusivities of symmetric and asymmetric dicolloids are compared with similarly sized spheres. The short-time diffusivity is independent of salt concentration and decreases with increasing volume fraction for both spheres and asymmetric dicolloids. Symmetric dicolloids have a higher diffusivity than spheres at similar volume fractions. This difference is accounted for by rescaling the dicolloid volume fraction based on the ratio of the random close-packing volume fractions of spheres and dicolloids. Finally, a useful method is provided for calculating the diffusivity of symmetric dicolloid particles of arbitrary aspect ratio based on the calculated hydrodynamic resistance of Zabarankin [Proc. R. Soc. A 463, 2329 (2007)]. PMID:25019780

  11. Short pulse free electron laser amplifier

    DOEpatents

    Schlitt, Leland G. (Livermore, CA); Szoke, Abraham (Fremont, CA)

    1985-01-01

    Method and apparatus for amplification of a laser pulse in a free electron laser amplifier where the laser pulse duration may be a small fraction of the electron beam pulse duration used for amplification. An electron beam pulse is passed through a first wiggler magnet and a short laser pulse to be amplified is passed through the same wiggler so that only the energy of the last fraction, f, (f<1) of the electron beam pulse is consumed in amplifying the laser pulse. After suitable delay of the electron beam, the process is repeated in a second wiggler magnet, a third, . . . , where substantially the same fraction f of the remainder of the electron beam pulse is consumed in amplification of the given short laser pulse in each wiggler magnet region until the useful electron beam energy is substantially completely consumed by amplification of the laser pulse.

  12. Writing and overwriting short-term memory

    PubMed Central

    Killeen, Peter R.

    2008-01-01

    An integrative account of short-term memory is based on data from pigeons trained to report the majority color in a sequence of lights. Performance showed strong recency effects, was invariant over changes in the interstimulus interval, and improved with increases in the intertrial interval. A compound model of binomial variance around geometrically decreasing memory described the data; a logit transformation rendered it isomorphic with other memory models. The model was generalized for variance in the parameters, where it was shown that averaging exponential and power functions from individuals or items with different decay rates generates new functions that are hyperbolic in time and in log time, respectively. The compound model provides a unified treatment of both the accrual and the dissipation of memory and is consistent with data from various experiments, including the choose-short bias in delayed recall, multielement stimuli, and Rubin and Wenzel’s (1996) meta-analyses of forgetting. PMID:11340865

  13. Short Time Cycles of Purely Quantum Refrigerators

    E-print Network

    Feldmann, Tova

    2012-01-01

    Four stroke Otto refrigerator cycles with no classical analogue are studied. Extremely short cycle times with respect to the internal time scale of the working medium characterize these refrigerators. Therefore these cycles are termed sudden. The sudden cycles are characterized by the stable limit cycle which is the invariant of the global cycle propagator. During their operation the state of the working medium possesses significant coherence which is not erased in the equilibration segments due to the very short time allocated. This characteristic is reflected in a difference between the energy entropy and the Von Neumann entropy of the working medium. A classification scheme for sudden refrigerators is developed allowing simple approximations for the cooling power and coefficient of performance.

  14. Short Time Cycles of Purely Quantum Refrigerators

    E-print Network

    Tova Feldmann; Ronnie Kosloff

    2012-04-18

    Four stroke Otto refrigerator cycles with no classical analogue are studied. Extremely short cycle times with respect to the internal time scale of the working medium characterize these refrigerators. Therefore these cycles are termed sudden. The sudden cycles are characterized by the stable limit cycle which is the invariant of the global cycle propagator. During their operation the state of the working medium possesses significant coherence which is not erased in the equilibration segments due to the very short time allocated. This characteristic is reflected in a difference between the energy entropy and the Von Neumann entropy of the working medium. A classification scheme for sudden refrigerators is developed allowing simple approximations for the cooling power and coefficient of performance.

  15. Skylab short-lived event alert program

    NASA Technical Reports Server (NTRS)

    Citron, R. A.

    1974-01-01

    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.

  16. Ultimately short ballistic vertical graphene Josephson junctions

    PubMed Central

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

    2015-01-01

    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

  17. Brownian motion at short time scales

    E-print Network

    Tongcang Li; Mark G. Raizen

    2012-11-07

    Brownian motion has played important roles in many different fields of science since its origin was first explained by Albert Einstein in 1905. Einstein's theory of Brownian motion, however, is only applicable at long time scales. At short time scales, Brownian motion of a suspended particle is not completely random, due to the inertia of the particle and the surrounding fluid. Moreover, the thermal force exerted on a particle suspended in a liquid is not a white noise, but is colored. Recent experimental developments in optical trapping and detection have made this new regime of Brownian motion accessible. This review summarizes related theories and recent experiments on Brownian motion at short time scales, with a focus on the measurement of the instantaneous velocity of a Brownian particle in a gas and the observation of the transition from ballistic to diffusive Brownian motion in a liquid.

  18. Short bunch research at Brookhaven National Laboratory

    SciTech Connect

    Blum, E.B.

    1995-12-31

    Research into the production and utilization of short electron bunches at Brookhaven National Laboratory is underway at the Source Development Laboratory (SDL) and Accelerator Test Facility (ATF). Projects planned for the SDL facility include a 210 MeV electron linac with a dipole chicane that is designed to produce 100 {mu}m long bunches and a compact electron storage ring that will use superconducting RF to produce sub-millimeter bunches.The ATF has a 30-70 MeV linac that will serve as the injector for laser accelerators that will bunch the beam into to micron-length bunches. Coherent transition and synchrotron radiation from the short bunches will be used for beam diagnostics and infrared experiments.

  19. Short Read Alignment Using SOAP2.

    PubMed

    Hurgobin, Bhavna

    2016-01-01

    Next-generation sequencing (NGS) technologies have rapidly evolved in the last 5 years, leading to the generation of millions of short reads in a single run. Consequently, various sequence alignment algorithms have been developed to compare these reads to an appropriate reference in order to perform important downstream analysis. SOAP2 from the SOAP series is one of the most commonly used alignment programs to handle NGS data, and it efficiently does so using low computer memory usage and fast alignment speed. This chapter describes the protocol used to align short reads to a reference genome using SOAP2, and highlights the significance of using the in-built command-line options to tune the behavior of the algorithm according to the inputs and the desired results. PMID:26519410

  20. SSC 40 mm short model construction experience

    SciTech Connect

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

    1990-04-01

    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.

  1. Deformable mirror for short wavelength applications

    DOEpatents

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

    1999-01-01

    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.

  2. Source of coherent short wavelength radiation

    DOEpatents

    Villa, Francesco (Alameda, CA)

    1990-01-01

    An apparatus for producing coherent radiation ranging from X-rays to the far ultraviolet (i.e., 1 Kev to 10 eV) utilizing the Compton scattering effect. A photon beam from a laser is scattered on a high energy electron bunch from a pulse power linac. The short wavelength radiation produced by such scattering has sufficient intensity and spatial coherence for use in high resolution applications such as microscopy.

  3. A short-term neural network memory

    SciTech Connect

    Morris, R.J.T.; Wong, W.S.

    1988-12-01

    Neural network memories with storage prescriptions based on Hebb's rule are known to collapse as more words are stored. By requiring that the most recently stored word be remembered precisely, a new simple short-term neutral network memory is obtained and its steady state capacity analyzed and simulated. Comparisons are drawn with Hopfield's method, the delta method of Widrow and Hoff, and the revised marginalist model of Mezard, Nadal, and Toulouse.

  4. Short wavelength striations on expanding plasma clouds

    SciTech Connect

    Winske, D.; Gary, S.P.

    1989-01-01

    The growth and evolution of short wavelength (

  5. Theoretical interpretation of "long" and "short" GRBs

    E-print Network

    Carlo Luciano Bianco; Maria Grazia Bernardini; Letizia Caito; Pascal Chardonnet; Maria Giovanna Dainotti; Federico Fraschetti; Roberto Guida; Remo Ruffini; She-Sheng Xue

    2008-04-17

    Within the "fireshell" model we define a "canonical GRB" light curve with two sharply different components: the Proper-GRB (P-GRB), emitted when the optically thick fireshell of electron-positron plasma originating the phenomenon reaches transparency, and the afterglow, emitted due to the collision between the remaining optically thin fireshell and the CircumBurst Medium (CBM). We here present the consequences of such a scenario on the theoretical interpretation of the nature of "long" and "short" GRBs.

  6. Short-term solar activity forecasting

    NASA Technical Reports Server (NTRS)

    Xie-Zhen, C.; Ai-Di, Z.

    1979-01-01

    A method of forecasting the level of activity of every active region on the surface of the Sun within one to three days is proposed in order to estimate the possibility of the occurrence of ionospheric disturbances and proton events. The forecasting method is a probability process based on statistics. In many of the cases, the accuracy in predicting the short term solar activity was in the range of 70%, although there were many false alarms.

  7. Alchemy with short-lived radionuclides

    SciTech Connect

    Rubio, F.F.; Finn, R.D.; Gilson, A.J.

    1981-04-01

    A variety of short-lived radionuclides are produced and subsequently incorporated into radiopharmaceutical compounds in the radionuclide production program currently being conducted at the Cyclotron Facility of Mount Sinai Medical Center. The recovery of high specific activity oxygen-15 labelled water prepared by means of an inexpensive system operating in conjunction with an on-line radiogas target routinely utilized for oxygen-15 labelled carbon dioxide studies is currently receiving particular attention.

  8. The Long and the Short of It

    NASA Technical Reports Server (NTRS)

    2006-01-01

    Gamma-Ray bursts, the extreme explosions that mark the birth of black holes, come in two flavors, long bursts lasting a few seconds or more, and short bursts lasting for less than a second. The mechanisms giving rise to these two types of bursts were, for a long time, unknown to astronomers. But a series of breakthroughs starting with BeppoSAX, HETE, and Swift gave astronomers some clues and confidence about the nature of long and short bursts. Long bursts mark the collapse of a young, extremely massive star into a black hole; short bursts mark the formation of a black hole by a merger of neutron stars (or perhaps a neutron star with a black hole to form a larger black hole). But a new observation has clouded this clear dichotomy. The picture above is an X-ray image of a gamma-ray burst, GRB 060614, taken by Swift's X-ray Telescope. This burst lasted more than 100 seconds, clearly showing that it's a long burst. But follow-up observations of the burst did not show the tell-tale signatures of a supernova explosion which should be produced by the collapse of a large star. Furthermore this burst occurred in a galaxy which has very few extremely massive stars. Does this hybrid burst represent an entirely new mechanism behind these titanic explosions? The hunt is on.

  9. Short gamma-ray bursts: A review

    NASA Astrophysics Data System (ADS)

    D'Avanzo, P.

    2015-09-01

    Gamma-Ray Bursts (GRBs) are rapid, bright flashes of radiation peaking in the gamma-ray band occurring at an average rate of one event per day at cosmological distances. They are characterized by a collimated relativistic outflow pushing through the interstellar medium shining in gamma-rays powered by a central engine. This prompt phase is followed by a fading afterglow emission at longer wavelength, powered in part by the expanding outflow, and in part by continuous energy injection by the central engine. The observed evidences of supernovae associated to long GRBs (those with a duration of the gamma-ray emission > 2 s) brought to a general consensus on indicating the core collapse of massive stars as the progenitor of these events. Following the most accredited model, short GRBs (the events with a duration of the gamma-ray emission ? 2 s) originate from the coalescence of compact binary systems (two neutron stars or neutron star-black hole systems). This paper presents a review of the observational properties of short GRBs and shows how the study of these properties can be used as a tool to unveil their elusive progenitors and provide information on the nature of the central engine powering the observed emission. The increasing evidence for compact object binary progenitors makes short GRBs one of the most promising sources of gravitational waves for the forthcoming Advanced LIGO/Virgo experiments.

  10. Short Term Depression Unmasks the Ghost Frequency

    PubMed Central

    olde Scheper, Tjeerd V.; Mansvelder, Huibert D.; van Ooyen, Arjen

    2012-01-01

    Short Term Plasticity (STP) has been shown to exist extensively in synapses throughout the brain. Its function is more or less clear in the sense that it alters the probability of synaptic transmission at short time scales. However, it is still unclear what effect STP has on the dynamics of neural networks. We show, using a novel dynamic STP model, that Short Term Depression (STD) can affect the phase of frequency coded input such that small networks can perform temporal signal summation and determination with high accuracy. We show that this property of STD can readily solve the problem of the ghost frequency, the perceived pitch of a harmonic complex in absence of the base frequency. Additionally, we demonstrate that this property can explain dynamics in larger networks. By means of two models, one of chopper neurons in the Ventral Cochlear Nucleus and one of a cortical microcircuit with inhibitory Martinotti neurons, it is shown that the dynamics in these microcircuits can reliably be reproduced using STP. Our model of STP gives important insights into the potential roles of STP in self-regulation of cortical activity and long-range afferent input in neuronal microcircuits. PMID:23227159

  11. Management of patients with a short bowel

    PubMed Central

    Nightingale, Jeremy M D

    2001-01-01

    There are two common types of adult patient with a short bowel, those with jejunum in continuity with a functioning colon and those with a jejunostomy. Both groups have potential problems of undernutrition, but this is a greater problem in those without a colon, as they do not derive energy from anaerobic bacterial fermentation of carbohydrate to short chain fatty acids in the colon. Patients with a jejunostomy have major problems of dehydration, sodium and magnesium depletion all due to a large volume of stomal output. Both types of patient have lost at least 60 cm of terminal ileum and so will become deficient of vitamin B12. Both groups have a high prevalence of gallstones (45%) resulting from periods of biliary stasis. Patients with a retained colon have a 25% chance of developing calcium oxalate renal stones and they may have problems with D (-) lactic acidosis. The survival of patients with a short bowel, even if they need long-term parenteral nutrition, is good. PMID:11819867

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

    E-print Network

    Auerbach, Benjamin M.

    . 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

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

    PubMed Central

    2009-01-01

    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

  14. 21W.755 Writing and Reading Short Stories, Fall 2006

    E-print Network

    Lewitt, Shariann

    This class will focus on the craft of the short story, which we will explore through reading great short stories, writers speaking about writing, writing exercises and conducting workshops on original stories.

  15. Can short sellers predict accounting restatements and foresee their severity 

    E-print Network

    Efendi, Jap

    2005-11-01

    . The level of short interest increases as the restatement announcement date approaches and declines thereafter. Related to severity of restatement, I find that the level of short interest in the pre-disclosure period is higher for restatements involving fraud...

  16. SOFIP: A Short Orbital Flux Integration Program

    NASA Technical Reports Server (NTRS)

    Stassinopoulos, E. G.; Hebert, J. J.; Butler, E. L.; Barth, J. L.

    1979-01-01

    A computer code was developed to evaluate the space radiation environment encountered by geocentric satellites. The Short Orbital Flux Integration Program (SOFIP) is a compact routine of modular compositions, designed mostly with structured programming techniques in order to provide core and time economy and ease of use. The program in its simplest form produces for a given input trajectory a composite integral orbital spectrum of either protons or electrons. Additional features are available separately or in combination with the inclusion of the corresponding (optional) modules. The code is described in detail, and the function and usage of the various modules are explained. A program listing and sample outputs are attached.

  17. Failure Prevention by Short Time Corrosion Tests

    SciTech Connect

    MICKALONIS, JOHN

    2005-05-01

    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.

  18. Longitudinal Diagnostics for Short Electron Beam Bunches

    SciTech Connect

    Loos, H.; ,

    2010-06-11

    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.

  19. The Fermilab short-baseline neutrino program

    NASA Astrophysics Data System (ADS)

    Camilleri, Leslie

    2015-10-01

    The Fermilab short-baseline program is a multi-facetted one. Primarily it searches for evidence of sterile neutrinos as hinted at by the MiniBooNE and LSND results. It will also measure a whole suite of ?-Argon cross sections which will be very useful in future liquid argon long-baseline projects. The program is based on MicroBooNE, already installed in the beam line, the recently approved LAr1-ND and the future addition of the refurbished ICARUS.

  20. Short-cavity squeezing in barium

    NASA Technical Reports Server (NTRS)

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

    1992-01-01

    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.

  1. Short wavelength ion temperature gradient turbulence

    SciTech Connect

    Chowdhury, J.; Ganesh, R.; Brunner, S.; Lapillonne, X.; Villard, L.; Jenko, F.

    2012-10-15

    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.

  2. Analysis of short-rotation willow

    SciTech Connect

    Raunonaa, T.; Samela, J.; Kantele, O.; Reponen, A.

    1986-01-01

    The applicability of the proton-induced X-ray emission (PIXE) method to determination of the elemental composition of short-rotation willow is studied. The analysis samples were taken as a time series from different willow stands. The concentrations of 15 elements between aluminum and lead were determined, and the implications of certain correlations between two distinct groups of elements are considered. The elemental composition of gases from willow combustion was also tentatively measured by PIXE. Nutrient dynamics and growth of willow seedlings were in addition studied by this technique and a simple simulation model was developed to depict the nutrient dynamics in willow leaves.

  3. Gravitational waves and short gamma ray bursts

    NASA Astrophysics Data System (ADS)

    Predoi, Valeriu

    2012-07-01

    Short hard gamma-ray bursts (GRB) are believed to be produced by compact binary coalescences (CBC) { either double neutron stars or neutron star{black hole binaries. The same source is expected to emit strong gravitational radiation, detectable with existing and planned gravitational wave observatories. The focus of this work is to describe a series of searches for gravitational waves (GW) from compact binary coalescence (CBC) events triggered by short gamma-ray burst detections. Specifically, we will present the motivation, frameworks, implementations and results of searches for GW associated with short gamma-ray bursts detected by Swift, Fermi{GBM and the InterPlanetary Network (IPN) gamma-ray detectors. We will begin by presenting the main concepts that lay the foundation of gravitational waves emission, as they are formulated in the theory of General Relativity; we will also brie y describe the operational principles of GW detectors, together with explaining the main challenges that the GW detection process is faced with. Further, we will motivate the use of observations in the electromagnetic (EM) band as triggers for GW searches, with an emphasis on possible EM signals from CBC events. We will briefly present the data analysis techniques including concepts as matched{filtering through a collection of theoretical GW waveforms, signal{to{ noise ratio, coincident and coherent analysis approaches, signal{based veto tests and detection candidates' ranking. We will use two different GW{GRB search examples to illustrate the use of the existing coincident and coherent analysis methods. We will also present a series of techniques meant to improve the sensitivity of existing GW triggered searches. These include shifting background data in time in order to obtain extended coincident data and setting a prior on the GRB inclination angle, in accordance with astrophysical observations, in order to restrict the searched parameter space. We will describe the GW data analysis and present results from a GW search around 12 short gamma-ray bursts detected by the InterPlanetary Network (IPN) between 2006 and 2007. The IPN{detected bursts usually have extended localization error boxes and a search for GW was performed at different sky locations across these error regions. Since no GW detection was made, we set upper limits on the distances to the GRB progenitors; we briefly discuss the implications that two IPN GRBs error regions overlap two nearby galaxies.

  4. Gravitational waves and short gamma ray bursts

    NASA Astrophysics Data System (ADS)

    Predoi, Valeriu

    Short hard gamma-ray bursts (GRB) are believed to be produced by compact binary coalescences (CBC), either double neutron stars or neutron star black hole binaries. The same source is expected to emit strong gravitational radiation, detectable with existing and planned gravitational wave observatories. The focus of this work is to describe a series of searches for gravitational waves (GW) from compact binary coalescence (CBC) events triggered by short gamma-ray burst detections. Specifically, we will present the motivation, frameworks, implementations and results of searches for GW associated with short gamma-ray bursts detected by Swift, Fermi{GBM and the InterPlanetary Network (IPN) gamma-ray detectors. We will begin by presenting the main concepts that lay the foundation of gravitational waves emission, as they are formulated in the theory of General Relativity; we will also brie y describe the operational principles of GW detectors, together with explaining the main challenges that the GW detection process is faced with. Further, we will motivate the use of observations in the electromagnetic (EM) band as triggers for GW searches, with an emphasis on possible EM signals from CBC events. We will briefly present the data analysis techniques including concepts as matched filtering through a collection of theoretical GW waveforms, signal{to{ noise ratio, coincident and coherent analysis approaches, signal{based veto tests and detection candidates' ranking. We will use two different GW GRB search examples to illustrate the use of the existing coincident and coherent analysis methods. We will also present a series of techniques meant to improve the sensitivity of existing GW triggered searches. These include shifting background data in time in order to obtain extended coincident data and setting a prior on the GRB inclination angle, in accordance with astrophysical observations, in order to restrict the searched parameter space. We will describe the GW data analysis and present results from a GW search around 12 short gamma-ray bursts detected by the InterPlanetary Network (IPN) between 2006 and 2007. The IPN detected bursts usually have extended localization error boxes and a search for GW was performed at different sky locations across these error regions. Since no GW detection was made, we set upper limits on the distances to the GRB progenitors; we briefly discuss the implications that two IPN GRBs error regions overlap two nearby galaxies.

  5. A Variable Diameter Short Haul Civil Tiltrotor

    NASA Technical Reports Server (NTRS)

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

    1999-01-01

    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.

  6. 4.0 SHORT FORM LOGO 4.01 OVERVIEW

    E-print Network

    Lotze, Heike K.

    4.0 SHORT FORM LOGO 4.01 OVERVIEW 4.02 CLEAR SPACE AND MINIMUM SIZE 4.03 AS A WATERMARK 4.04 RETAIL PRODUCTS 4.05 APPLYING THE SHORT FORM LOGO PROPERLY 4.06 LINK TO DALHOUSIE AUTHORIZED SHORT FORM LOGO As part of the 2014 logo refresh, we introduced a short form logo for informal uses such as social media

  7. Tester Detects Steady-Short Or Intermittent-Open Circuits

    NASA Technical Reports Server (NTRS)

    Anderson, Bobby L.

    1990-01-01

    Momentary open circuits or steady short circuits trigger buzzer. Simple, portable, lightweight testing circuit sounds long-duration alarm when it detects steady short circuit or momentary open circuit in coaxial cable or other two-conductor transmission line. Tester sensitive to discontinuities lasting 10 microseconds or longer. Used extensively for detecting intermittent open shorts in accelerometer and extensometer cables. Also used as ordinary buzzer-type continuity checker to detect steady short or open circuits.

  8. Short Range Stabilization Actions: Good But Not Enough.

    ERIC Educational Resources Information Center

    Kemerer, Frank R.

    An alternative approach to achieve short-time enrollment stabilization based in part on experiences at the State University of New York, Geneseo, is described. It is suggested that a short-range effort will not be enough to assure institutional vitality in the difficult years ahead. Short-range stabilization should be followed by the integration…

  9. Orbit determination with very short arcs. II Identifications

    E-print Network

    Milani, Andrea

    Orbit determination with very short arcs. II Identifications Andrea Milani a , Giovanni F. Gronchi as them Too Short Arcs (TSAs). In such a case the problem of orbit determination must begin w ellipsoid. The problem of computing a preliminary orbit starting from two short arcs of observations

  10. 19 CFR 357.103 - Petitions for short supply allowances.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... 19 Customs Duties 3 2012-04-01 2012-04-01 false Petitions for short supply allowances. 357.103 Section 357.103 Customs Duties INTERNATIONAL TRADE ADMINISTRATION, DEPARTMENT OF COMMERCE SHORT SUPPLY PROCEDURES § 357.103 Petitions for short supply allowances. An interested party may file a petition with...

  11. 19 CFR 357.103 - Petitions for short supply allowances.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 19 Customs Duties 3 2011-04-01 2011-04-01 false Petitions for short supply allowances. 357.103 Section 357.103 Customs Duties INTERNATIONAL TRADE ADMINISTRATION, DEPARTMENT OF COMMERCE SHORT SUPPLY PROCEDURES § 357.103 Petitions for short supply allowances. An interested party may file a petition with...

  12. 19 CFR 357.103 - Petitions for short supply allowances.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 19 Customs Duties 3 2010-04-01 2010-04-01 false Petitions for short supply allowances. 357.103 Section 357.103 Customs Duties INTERNATIONAL TRADE ADMINISTRATION, DEPARTMENT OF COMMERCE SHORT SUPPLY PROCEDURES § 357.103 Petitions for short supply allowances. An interested party may file a petition with...

  13. 30 CFR 56.12065 - Short circuit and lightning protection.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 30 Mineral Resources 1 2011-07-01 2011-07-01 false Short circuit and lightning protection. 56... Electricity § 56.12065 Short circuit and lightning protection. Powerlines, including trolley wires, and telephone circuits shall be protected against short circuits and lightning....

  14. 30 CFR 57.12065 - Short circuit and lightning protection.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 30 Mineral Resources 1 2010-07-01 2010-07-01 false Short circuit and lightning protection. 57... MINES Electricity Surface Only § 57.12065 Short circuit and lightning protection. Powerlines, including trolley wires, and telephone circuits shall be protected against short circuits and lightning....

  15. 30 CFR 56.12065 - Short circuit and lightning protection.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... 30 Mineral Resources 1 2013-07-01 2013-07-01 false Short circuit and lightning protection. 56... Electricity § 56.12065 Short circuit and lightning protection. Powerlines, including trolley wires, and telephone circuits shall be protected against short circuits and lightning....

  16. 30 CFR 56.12065 - Short circuit and lightning protection.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 30 Mineral Resources 1 2010-07-01 2010-07-01 false Short circuit and lightning protection. 56... Electricity § 56.12065 Short circuit and lightning protection. Powerlines, including trolley wires, and telephone circuits shall be protected against short circuits and lightning....

  17. 30 CFR 56.12065 - Short circuit and lightning protection.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... 30 Mineral Resources 1 2012-07-01 2012-07-01 false Short circuit and lightning protection. 56... Electricity § 56.12065 Short circuit and lightning protection. Powerlines, including trolley wires, and telephone circuits shall be protected against short circuits and lightning....

  18. 30 CFR 57.12065 - Short circuit and lightning protection.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 30 Mineral Resources 1 2011-07-01 2011-07-01 false Short circuit and lightning protection. 57... MINES Electricity Surface Only § 57.12065 Short circuit and lightning protection. Powerlines, including trolley wires, and telephone circuits shall be protected against short circuits and lightning....

  19. 30 CFR 56.12065 - Short circuit and lightning protection.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... 30 Mineral Resources 1 2014-07-01 2014-07-01 false Short circuit and lightning protection. 56... Electricity § 56.12065 Short circuit and lightning protection. Powerlines, including trolley wires, and telephone circuits shall be protected against short circuits and lightning....

  20. 30 CFR 57.12065 - Short circuit and lightning protection.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... 30 Mineral Resources 1 2013-07-01 2013-07-01 false Short circuit and lightning protection. 57... MINES Electricity Surface Only § 57.12065 Short circuit and lightning protection. Powerlines, including trolley wires, and telephone circuits shall be protected against short circuits and lightning....

  1. 30 CFR 57.12065 - Short circuit and lightning protection.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... 30 Mineral Resources 1 2012-07-01 2012-07-01 false Short circuit and lightning protection. 57... MINES Electricity Surface Only § 57.12065 Short circuit and lightning protection. Powerlines, including trolley wires, and telephone circuits shall be protected against short circuits and lightning....

  2. 30 CFR 57.12065 - Short circuit and lightning protection.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... 30 Mineral Resources 1 2014-07-01 2014-07-01 false Short circuit and lightning protection. 57... MINES Electricity Surface Only § 57.12065 Short circuit and lightning protection. Powerlines, including trolley wires, and telephone circuits shall be protected against short circuits and lightning....

  3. The effect of short-baseline neutrino oscillations on LBNE

    NASA Astrophysics Data System (ADS)

    Louis, William C.

    2015-10-01

    Short-baseline neutrino oscillations can have a relatively big effect on long-baseline oscillations, due to the cross terms that arise from multiple mass scales. The existing short-baseline anomalies suggest that short-baseline oscillations can affect the ?? ? ?e appearance probabilities by up to 20-40%, depending on the values of the CP-violating parameters.

  4. 19 CFR 207.27 - Short life cycle products.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 19 Customs Duties 3 2011-04-01 2011-04-01 false Short life cycle products. 207.27 Section 207.27... SUBSIDIZED EXPORTS TO THE UNITED STATES Final Determinations, Short Life Cycle Products § 207.27 Short life cycle products. (a) An eligible domestic entity may file a petition to establish a product category...

  5. Short-term energy outlook quarterly projections. First quarter 1994

    SciTech Connect

    Not Available

    1994-02-07

    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.

  6. Ultraintense ion beams driven by a short-wavelength short-pulse laser

    SciTech Connect

    Badziak, J.; Jablonski, S.

    2010-07-15

    The results of particle-in-cell simulations are reported which demonstrate that a short-wavelength (lambda<=0.5 mum) short-pulse laser driver can produce much more intense ion beams than the commonly used long-wavelength (lambdaapprox1 mum) ones. In particular, such a driver allows for efficient generation of ultrashort (<=100 fs), multi-MeV proton bunches of extremely high intensities (>10{sup 21} W/cm{sup 2}) and current densities (>10{sup 14} A/cm{sup 2}) even at moderate values of dimensionless laser amplitude a{sub 0}<=10.

  7. Acoustics of a short strombolian eruption

    NASA Astrophysics Data System (ADS)

    Sesterhenn, Jörn; Pena Fernandez, Juan Jose

    2014-05-01

    Many Strombolian eruptions are characterized by relatively short but intense blasts. The acoustic properties of such eruptions are totally different from the volcanic jets with longer duration because of different physical phenomena generating the sound. The dominant feature responsible for the emanated sound is a front vortex ring which interacts with the emerging shock wave pattern. The strength of both depends strongly on the initial overpressure. The interaction between the high vorticity region of the vortex ring, the emerging shockwaves and the shear layer, make the eddies from the shear layer detach from the supersonic region into the subsonic one, emanating high amplitude pressure perturbations predominantly in a specific direction. The amplitude is observed to reach up to 160 dB during a short period of time. Direct Numerical Simulations of a supersonic impulsively starting jet are performed, analyzing the main structures present in the flow field that lead to the phenomena described. Unterstanding the relationship between sound wave patterns and vortex strenght will help to find out the overpressure that generated the specific eruption. The results will also be applicable to eruptions which develop into a steady blowing jet.

  8. Short-term energy outlook, July 1998

    SciTech Connect

    1998-07-01

    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.

  9. Short-term energy outlook, January 1999

    SciTech Connect

    1999-01-01

    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.

  10. Evaluation of short read metagenomic assembly

    PubMed Central

    2011-01-01

    Background Metagenomic assembly is a challenging problem due to the presence of genetic material from multiple organisms. The problem becomes even more difficult when short reads produced by next generation sequencing technologies are used. Although whole genome assemblers are not designed to assemble metagenomic samples, they are being used for metagenomics due to the lack of assemblers capable of dealing with metagenomic samples. We present an evaluation of assembly of simulated short-read metagenomic samples using a state-of-art de Bruijn graph based assembler. Results We assembled simulated metagenomic reads from datasets of various complexities using a state-of-art de Bruijn graph based parallel assembler. We have also studied the effect of k-mer size used in de Bruijn graph on metagenomic assembly and developed a clustering solution to pool the contigs obtained from different assembly runs, which allowed us to obtain longer contigs. We have also assessed the degree of chimericity of the assembled contigs using an entropy/impurity metric and compared the metagenomic assemblies to assemblies of isolated individual source genomes. Conclusions Our results show that accuracy of the assembled contigs was better than expected for the metagenomic samples with a few dominant organisms and was especially poor in samples containing many closely related strains. Clustering contigs from different k-mer parameter of the de Bruijn graph allowed us to obtain longer contigs, however the clustering resulted in accumulation of erroneous contigs thus increasing the error rate in clustered contigs. PMID:21989307

  11. PTSD-8: A Short PTSD Inventory

    PubMed Central

    Hansen, Maj; Andersen, Tonny Elmose; Armour, Cherie; Elklit, Ask; Palic, Sabina; Mackrill, Thomas

    2010-01-01

    Traumatic events pose great challenges on mental health services in scarcity of specialist trauma clinicians and services. Simple short screening instruments for detecting adverse psychological responses are needed. Several brief screening instruments have been developed. However, some are limited, especially in relation to reflecting the posttraumatic stress disorder (PTSD) diagnosis. Recently, several studies have challenged pre-existing ideas about PTSD’s latent structure. Factor analytic research currently supports two four factor models. One particular model contains a dysphoria factor which has been associated with depression and anxiety. The symptoms in this factor have been hailed as less specific to PTSD. The scope of this article is therefore to present a short screening instrument, based on this research; Posttraumatic Stress Disorder (PTSD) – 8 items. The PTSD-8 is shown to have good psychometric properties in three independent samples of whiplash patients (n=1710), rape victims (n=305), and disaster victims (n=516). Good test-rest reliability is also shown in a pilot study of young adults from families with alcohol problems (n=56). PMID:21253461

  12. Hurst exponents for short time series

    NASA Astrophysics Data System (ADS)

    Qi, Jingchao; Yang, Huijie

    2011-12-01

    A concept called balanced estimator of diffusion entropy is proposed to detect quantitatively scalings in short time series. The effectiveness is verified by detecting successfully scaling properties for a large number of artificial fractional Brownian motions. Calculations show that this method can give reliable scalings for short time series with length ˜102. It is also used to detect scalings in the Shanghai Stock Index, five stock catalogs, and a total of 134 stocks collected from the Shanghai Stock Exchange Market. The scaling exponent for each catalog is significantly larger compared with that for the stocks included in the catalog. Selecting a window with size 650, the evolution of scaling for the Shanghai Stock Index is obtained by the window's sliding along the series. Global patterns in the evolutionary process are captured from the smoothed evolutionary curve. By comparing the patterns with the important event list in the history of the considered stock market, the evolution of scaling is matched with the stock index series. We can find that the important events fit very well with global transitions of the scaling behaviors.

  13. Hamiltonian Framework for Short Optical Pulses

    NASA Astrophysics Data System (ADS)

    Amiranashvili, Shalva

    Physics of short optical pulses is an important and active research area in nonlinear optics. In this Chapter we theoretically consider the most extreme representatives of short pulses that contain only several oscillations of electromagnetic field. Description of such pulses is traditionally based on envelope equations and slowly varying envelope approximation, despite the fact that the envelope is not "slow" and, moreover, there is no clear definition of such a "fast" envelope. This happens due to another paradoxical feature: the standard (envelope) generalized nonlinear Schrödinger equation yields very good correspondence to numerical solutions of full Maxwell equations even for few-cycle pulses, the thing that should not be.In what follows we address ultrashort optical pulses using Hamiltonian framework for nonlinear waves. As it appears, the standard optical envelope equation is just a reformulation of general Hamiltonian equations. In a sense, no approximations are required, this is why the generalized nonlinear Schrödinger equation is so effective. Moreover, the Hamiltonian framework contributes greatly to our understanding of "fast" envelopes, ultrashort solitons, stability and radiation of optical pulses. Even the inclusion of dissipative terms is possible making the Hamiltonian approach an universal theoretical tool also in extreme nonlinear optics.

  14. Short hyperdynamic profiles influence primate temperature regulation

    NASA Technical Reports Server (NTRS)

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

    1982-01-01

    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.

  15. PRESENTED BY THE DEPARTMENT OF FILMPRESENTED BY THE DEPARTMENT OF FILM The UNLV Short Film ArchiveThe UNLV Short Film Archive

    E-print Network

    Walker, Lawrence R.

    PRESENTED BY THE DEPARTMENT OF FILMPRESENTED BY THE DEPARTMENT OF FILM The UNLV Short Film ArchiveThe UNLV Short Film Archive 48-HOUR SHORT FILM contest48-HOUR SHORT FILM contest The UNLV Short Film Archive and the Film Dept. are sponsoring the Third Annual 48-HOUR SHORT FILM CONTEST in Las Vegas, Nevada

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

    E-print Network

    Walker, Lawrence R.

    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

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

    ERIC Educational Resources Information Center

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

    2011-01-01

    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…

  18. Designing a Clinical Framework to Guide Gross Motor Intervention Decisions for Infants and Young Children with Hypotonia

    ERIC Educational Resources Information Center

    Darrah, Johanna; O'Donnell, Maureen; Lam, Joyce; Story, Maureen; Wickenheiser, Diane; Xu, Kaishou; Jin, Xiaokun

    2013-01-01

    Clinical practice frameworks are a valuable component of clinical education, promoting informed clinical decision making based on the best available evidence and/or clinical experience. They encourage standardized intervention approaches and evaluation of practice. Based on an international project to support the development of an enhanced service…

  19. Indirect Estimates of Jaw Muscle Tension in Children with Suspected Hypertonia, Children with Suspected Hypotonia, and Matched Controls

    ERIC Educational Resources Information Center

    Connaghan, Kathryn P.; Moore, Christopher A.

    2013-01-01

    Purpose: In this study, the authors compared indirect estimates of jaw-muscle tension in children with suspected muscle-tone abnormalities with age- and gender-matched controls. Method: Jaw movement and muscle activation were measured in children (ages 3 years, 11 months, to 10 years) with suspected muscle-tone abnormalities (Down syndrome or…

  20. Publications for Andrew Short Harley, M., Turner, I., Short, A. (2015). New insights into

    E-print Network

    Müller, Dietmar

    2015-01-01

    Morphodynamics. In L Allan James, Carol Harden, John J. Clague (Eds.), Treatise on Geomorphology: Coastal Geomorphology, (pp. 106-129). London: Academic Press. Pereira, L., Vila-Concejo, A., Short, A. (2013). Influence on Geomorphology: Coastal Geomorphology, (pp. 166-244). London: Academic Press. McLachlan, A., Defeo, O., Jaramillo

  1. Short course review and the future

    SciTech Connect

    Corden, Pierce S.

    2014-05-09

    The presentations at the short course that were the basis of the present Proceedings covered many critical issues related to the objective of eliminating nuclear weapons as a means of ensuring global security and stability. This paper is based on the concluding talk, which briefly reviewed the course, offered a net assessment of where the project of elimination - a policy objective for nearly all the world's states - stands, and discussed some of the factors that need to be dealt with in achieving a nuclear weapon free world. These include understanding what 'proliferation' means and how it has changed over time, how the spread of nuclear weapons has proceeded over time, both 'vertical' in numbers and 'horizontal' to additional countries, what way the 'vector' of reversing proliferation is pointing, and the roles of nuclear energy and international governance.

  2. Long pulse production from short pulses

    DOEpatents

    Toeppen, J.S.

    1994-08-02

    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.

  3. Long pulse production from short pulses

    DOEpatents

    Toeppen, John S. (Livermore, CA)

    1994-01-01

    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).

  4. Induced Gravity in the Short Range

    E-print Network

    C. P. Kouropoulos

    2001-08-09

    We consider a pair of harmonic oscillators in two or three dimensions of space coupled by the standard electrodynamic forces : the Coulomb, the Lorentz and the electrokinetic forces. The addition of the Lorentz force is mainly felt in the short range and suppresses the radial correlated oscillating mode of such coupled oscillators. This imposes constraints on the system that make the two transverse modes degenerate. As a result, an 1/r antigravitational interaction now appears in the surviving anticorrelated radial zero-mode, which does not allow coherent states to form. As gravitation can only emerge from coherent modes, it can no longer be transitive. Matter in high densities would thus tend to increase its disorder, decouple from its own gravity, from the ordering far infrared Machian background that coheres its rest energy and would become intrinsically unstable. The highly energetic jets from galactic nuclei could be the consequence.

  5. Economics of solar energy: Short term costing

    NASA Astrophysics Data System (ADS)

    Klee, H.

    The solar economics based on life cycle costs are refuted as both imaginary and irrelevant. It is argued that predicting rates of inflation and fuel escalation, expected life, maintenance costs, and legislation over the next ten to twenty years is pure guesswork. Furthermore, given the high mobility level of the U.S. population, the average consumer is skeptical of long run arguments which will pay returns only to the next owners. In the short term cost analysis, the house is sold prior to the end of the expected life of the system. The cash flow of the seller and buyer are considered. All the relevant factors, including the federal tax credit and the added value of the house because of the solar system are included.

  6. [Flexor tendon repair: a short story].

    PubMed

    Moutet, F; Corcella, D; Forli, A; Mesquida, V

    2014-12-01

    This short story of flexor tendon repair aims to illustrate hesitations and wanderings of this surgery. Obviously tendon repair was very early considered, but it developed and diffused rather lately. It became a routine practice only in 20th century. This was due on the one hand, in Occident, to the Galen's dogmatic interdiction, on the other hand, to the repair difficulties of this paradoxical structure. Actually tendon is made of fibroblasts and collagen (sticky substances), and then its only goal is to move. According to this necessity, whatever the used techniques are, gliding is the final purpose. Technical evolutions are illustrated by historical contributions to flexor tendon surgery of several "giants" of hand surgery. PMID:24837978

  7. Short circuits in thermally ionized protoplanetary disks

    E-print Network

    Hubbard, Alexander; Mac Low, Mordecai-Mark

    2012-01-01

    Observations of chondritic meteorites and their ancestors, dust grains in protoplanetary disks, reveal the existence of strong, frequent heating events. One possible energy source for the heating that melts chondrules and anneals dust grains is the magnetic field that mediates the accretion flow, feeding off the vast reservoir of gravitational potential energy. In the absence of extremely spatially intermittent magnetic reconnection however, it has seemed unlikely that the dissipation of magnetic fields into heat in current sheets could reach the temperatures required to melt chondrules, T~1800K. In this paper, we show that there is hitherto unexplored dramatic behavior in protoplanetary disk current sheets triggered by the strong, positive relation between the temperature and the conductivity that can be understood as an electrical short. This is in opposition to the more commonly assumed resistivity increase in a magnetic reconnection region. The effect acts to focus the current sheets into even narrower, h...

  8. On storage rings for short wavelength FELs

    SciTech Connect

    Chattopadhyay, S.

    1990-01-01

    Significant advances have been made recently in the understanding of FEL physics and the technology of associated systems. We have witnessed experimental successes in the operation of FELs from the far infrared to the visible and near UV. All of the basic physics of FELs, as advanced up to date, in the small and high gain regimes (including exponential growth from noise, optical guiding, etc.) have been proved experimentally in the near or far infrared. These successes motivate us to explore the design of FEL systems at even shorter wavelengths, in the UV, XUV and soft x-ray regions, assuming that the same physics remain valid at these wavelengths. This paper is concerned with issues in the physics and design of storage rings as drivers of short wavelength FELs. 10 refs., 4 figs., 1 tab.

  9. Short Barcodes for Next Generation Sequencing

    PubMed Central

    Mir, Katharina; Neuhaus, Klaus; Bossert, Martin; Schober, Steffen

    2013-01-01

    We consider the design and evaluation of short barcodes, with a length between six and eight nucleotides, used for parallel sequencing on platforms where substitution errors dominate. Such codes should have not only good error correction properties but also the code words should fulfil certain biological constraints (experimental parameters). We compare published barcodes with codes obtained by two new constructions methods, one based on the currently best known linear codes and a simple randomized construction method. The evaluation done is with respect to the error correction capabilities, barcode size and their experimental parameters and fundamental bounds on the code size and their distance properties. We provide a list of codes for lengths between six and eight nucleotides, where for length eight, two substitution errors can be corrected. In fact, no code with larger minimum distance can exist. PMID:24386128

  10. Short Duration Base Heating Test Improvements

    NASA Technical Reports Server (NTRS)

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

    1999-01-01

    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.

  11. Using Short Videos to Teach Research Ethics

    NASA Astrophysics Data System (ADS)

    Loui, M. C.

    2014-12-01

    Created with support from the National Science Foundation, EthicsCORE (www.natonalethicscenter.org) is an online resource center for ethics in science and engineering. Among the resources, EthicsCORE hosts short video vignettes produced at the University of Nebraska - Lincoln that dramatize problems in the responsible conduct of research, such as peer review of journal submissions, and mentoring relationships between faculty and graduate students. I will use one of the video vignettes in an interactive pedagogical demonstration. After showing the video, I will ask participants to engage in a think-pair-share activity on the professional obligations of researchers. During the sharing phase, participants will supply the reasons for these obligations.

  12. Short-lived radioactivity and magma genesis.

    PubMed

    Gill, J; Condomines, M

    1992-09-01

    Short-lived decay products of uranium and thorium have half-lives and chemistries sensitive to the processes and time scales of magma genesis, including partial melting in the mantle and magmatic differentiation in the crust. Radioactive disequilibrium between (238)U, (230)Th, and (226)Ra is widespread in volcanic rocks. These disequilibria and the isotopic composition of thorium depend especially on the extent and rate of melting as well as the presence and composition of vapor during melting. The duration of mantle melting may be several hundred millennia, whereas ascent times are a few decades to thousands of years. Differentiation of most magmas commonly occurs within a few millennia, but felsic ones can be tens of millennia old upon eruption. PMID:17738278

  13. Short course review and the future

    NASA Astrophysics Data System (ADS)

    Corden, Pierce S.

    2014-05-01

    The presentations at the short course that were the basis of the present Proceedings covered many critical issues related to the objective of eliminating nuclear weapons as a means of ensuring global security and stability. This paper is based on the concluding talk, which briefly reviewed the course, offered a net assessment of where the project of elimination - a policy objective for nearly all the world's states - stands, and discussed some of the factors that need to be dealt with in achieving a nuclear weapon free world. These include understanding what "proliferation" means and how it has changed over time, how the spread of nuclear weapons has proceeded over time, both "vertical" in numbers and "horizontal" to additional countries, what way the "vector" of reversing proliferation is pointing, and the roles of nuclear energy and international governance.

  14. Inference of Isoforms from Short Sequence Reads

    NASA Astrophysics Data System (ADS)

    Feng, Jianxing; Li, Wei; Jiang, Tao

    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.

  15. Quantifying population structure on short timescales.

    PubMed

    Raeymaekers, Joost A M; Lens, Luc; Van den Broeck, Frederik; Van Dongen, Stefan; Volckaert, Filip A M

    2012-07-01

    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

  16. Inference of isoforms from short sequence reads.

    PubMed

    Feng, Jianxing; Li, Wei; Jiang, Tao

    2011-03-01

    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

  17. "Short Courses Shouldn't Be Short-Lived!" Enhancing Longer-Term Impact of Short English as a Foreign Language INSET Initiatives in China

    ERIC Educational Resources Information Center

    Yan, Chunmei; He, Chuanjun

    2015-01-01

    Short in-service teacher development (INSET) programmes have been globally used as a form of teacher development, but their impact has been under question. This study sought to examine teacher participants' perceptions of short INSET programmes to come up with better solutions to enhancing their effect on teachers' professional learning. A…

  18. Preferred Hosts for Short-Period Exoplanets

    NASA Astrophysics Data System (ADS)

    Kohler, Susanna

    2016-01-01

    In an effort to learn more about how planets form around their host stars, a team of scientists has analyzed the population of Kepler-discovered exoplanet candidates, looking for trends in where theyre found.Planetary OccurrenceSince its launch in 2009, Kepler has found thousands of candidate exoplanets around a variety of star types. Especially intriguing is the large population of super-Earths and mini-Neptunes planets with masses between that of Earth and Neptune that have short orbital periods. How did they come to exist so close to their host star? Did they form in situ, or migrate inwards, or some combination of both processes?To constrain these formation mechanisms, a team of scientists led by Gijs Mulders (University of Arizona and NASAs NExSS coalition) analyzed the population of Kepler planet candidates that have orbital periods between 2 and 50 days.Mulders and collaborators used statistical reconstructions to find the average number of planets, within this orbital range, around each star in the Kepler field. They then determined how this planet occurrence rate changed for different spectral types and therefore the masses of the host stars: do low-mass M-dwarf stars host more or fewer planets than higher-mass, main-sequence F, G, or K stars?Challenging ModelsAuthors estimates for the occurrence rate for short-period planets of different radii around M-dwarfs (purple) and around F, G, and K-type stars (blue). [Mulders et al. 2015]The team found that M dwarfs, compared to F, G, or K stars, host about half as many large planets with orbital periods of P 50 days. But, surprisingly, they host significantly more small planets, racking up an average of 3.5 times the number of planets in the size range of 12.8 Earth-radii.Could it be that M dwarfs have a lower total mass of planets, but that mass is distributed into more, smaller planets? Apparently not: the authors show that the mass of heavy elements trapped in short-orbital-period planets is higher for M dwarfs than for the larger F, G and K stars.All of this goes contrary to expectation, because we know that protostellar disks, from which planets form, are more massive around larger-mass stars. So why is there more heavy-element mass trapped in planetary systems with low stellar mass?This outcome isnt predicted by either in situ or migration planet formation theories. The authors instead propose that the distribution could be explained if the inward drift of planetary building blocks either dust grains or protoplanets turns out to be more efficient around lower-mass stars.CitationGijs D. Mulders et al 2015 ApJ 814 130. doi:10.1088/0004-637X/814/2/130

  19. Preferred Hosts for Short-Period Exoplanets

    NASA Astrophysics Data System (ADS)

    Kohler, Susanna

    2015-12-01

    In an effort to learn more about how planets form around their host stars, a team of scientists has analyzed the population of Kepler-discovered exoplanet candidates, looking for trends in where theyre found.Planetary OccurrenceSince its launch in 2009, Kepler has found thousands of candidate exoplanets around a variety of star types. Especially intriguing is the large population of super-Earths and mini-Neptunes planets with masses between that of Earth and Neptune that have short orbital periods. How did they come to exist so close to their host star? Did they form in situ, or migrate inwards, or some combination of both processes?To constrain these formation mechanisms, a team of scientists led by Gijs Mulders (University of Arizona and NASAs NExSS coalition) analyzed the population of Kepler planet candidates that have orbital periods between 2 and 50 days.Mulders and collaborators used statistical reconstructions to find the average number of planets, within this orbital range, around each star in the Kepler field. They then determined how this planet occurrence rate changed for different spectral types and therefore the masses of the host stars: do low-mass M-dwarf stars host more or fewer planets than higher-mass, main-sequence F, G, or K stars?Challenging ModelsAuthors estimates for the occurrence rate for short-period planets of different radii around M-dwarfs (purple) and around F, G, and K-type stars (blue). [Mulders et al. 2015]The team found that M dwarfs, compared to F, G, or K stars, host about half as many large planets with orbital periods of P 50 days. But, surprisingly, they host significantly more small planets, racking up an average of 3.5 times the number of planets in the size range of 12.8 Earth-radii.Could it be that M dwarfs have a lower total mass of planets, but that mass is distributed into more, smaller planets? Apparently not: the authors show that the mass of heavy elements trapped in short-orbital-period planets is higher for M dwarfs than for the larger F, G and K stars.All of this goes contrary to expectation, because we know that protostellar disks, from which planets form, are more massive around larger-mass stars. So why is there more heavy-element mass trapped in planetary systems with low stellar mass?This outcome isnt predicted by either in situ or migration planet formation theories. The authors instead propose that the distribution could be explained if the inward drift of planetary building blocks either dust grains or protoplanets turns out to be more efficient around lower-mass stars.CitationGijs D. Mulders et al 2015 ApJ 814 130. doi:10.1088/0004-637X/814/2/130

  20. On-Demand Cell Internal Short Circuit Device

    NASA Technical Reports Server (NTRS)

    Darcy, Eric; Keyser, Matthew

    2014-01-01

    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

  1. Optimization of short amino acid sequences classifier

    NASA Astrophysics Data System (ADS)

    Barcz, Aleksy; Szyma?ski, Zbigniew

    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.

  2. Improved asymmetry prediction for short interfering RNAs.

    PubMed

    Malefyt, Amanda P; Wu, Ming; Vocelle, Daniel B; Kappes, Sean J; Lindeman, Stephen D; Chan, Christina; Walton, S Patrick

    2014-01-01

    In the development of RNA interference therapeutics, merely selecting short interfering RNA (siRNA) sequences that are complementary to the mRNA target does not guarantee target silencing. Current algorithms for selecting siRNAs rely on many parameters, one of which is asymmetry, often predicted through calculation of the relative thermodynamic stabilities of the two ends of the siRNA. However, we have previously shown that highly active siRNA sequences are likely to have particular nucleotides at each 5'-end, independently of their thermodynamic asymmetry. Here, we describe an algorithm for predicting highly active siRNA sequences based only on these two asymmetry parameters. The algorithm uses end-sequence nucleotide preferences and predicted thermodynamic stabilities, each weighted on the basis of training data from the literature, to rank the probability that an siRNA sequence will have high or low activity. The algorithm successfully predicts weakly and highly active sequences for enhanced green fluorescent protein and protein kinase R. Use of these two parameters in combination improves the prediction of siRNA activity over current approaches for predicting asymmetry. Going forward, we anticipate that this approach to siRNA asymmetry prediction will be incorporated into the next generation of siRNA selection algorithms. PMID:24393396

  3. A Silurian short-great-appendage arthropod

    PubMed Central

    Siveter, Derek J.; Briggs, Derek E. G.; Siveter, David J.; Sutton, Mark D.; Legg, David; Joomun, Sarah

    2014-01-01

    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

  4. Immune changes during short-duration missions

    NASA Technical Reports Server (NTRS)

    Taylor, G. R.

    1993-01-01

    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.

  5. Short GRBs: Rates and luminosity function implications

    E-print Network

    Dafne Guetta

    2006-10-13

    We compare the luminosity function and rate inferred from the BATSE short hard bursts (SHBs) peak flux distribution with the redshift and luminosity distributions of SHBs observed by Swift/HETE II. The Swift/HETE II SHB sample is incompatible with SHB population that follows the star formation rate. However, it is compatible with a distribution of delay times after the SFR. This would be the case if SHBs are associated with the mergers of double neutron star (DNS) systems. DNS may be ``primordial'' or can form dynamically by binary exchange interaction in globular clusters during core collapse. The implied SHB rates that we find range from \\sim 8 to \\sim 30h_(70)^3 Gpc^(-3)yr^(-1). This rate is a much higher than what was previously estimated and, when beaming is taken into account, it is comparable to the rate of neutron star mergers estimated from statistics of binary pulsars. If GRBs are produced in mergers the implied rate practically guarantees detection by LIGO II and possibly even by LIGO I.

  6. Short-term GNSS satellite clock stability

    NASA Astrophysics Data System (ADS)

    Griggs, E.; Kursinski, E. R.; Akos, D.

    2015-08-01

    Global Navigation Satellite System (GNSS) clock stability is characterized via the modified Allan deviation using active hydrogen masers as the receiver frequency reference. The high stability of the maser reference allows the GNSS clock contribution to the GNSS carrier phase variance to be determined quite accurately. Satellite clock stability for four different GNSS constellations are presented, highlighting the similarities and differences between the constellations as well as satellite blocks and clock types. Impact on high-rate applications, such as GNSS radio occultation (RO), is assessed through the calculation of the maximum carrier phase error due to clock instability. White phase noise appears to dominate at subsecond time scales. However, while we derived the theoretical contribution of white phase modulation to the modified Allan deviation, our analysis of the GNSS satellite clocks was limited to 1-200 s time scales because of inconsistencies between the subsecond results from the commercial and software-defined receivers. The rubidium frequency standards on board the Global Positioning System (GPS) Block IIF, BeiDou, and Galileo satellites show improved stability results in comparison to previous GPS blocks for time scales relevant to RO. The Globalnaya Navigatsionnaya Sputnikovaya Sistema (GLONASS) satellites are the least stable of the GNSS constellations in the short term and will need high-rate corrections to produce RO results comparable to those from the other GNSS constellations.

  7. Immune changes during short-duration missions.

    PubMed

    Taylor, G R

    1993-09-01

    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. PMID:8371049

  8. Short-term energy outlook, April 1999

    SciTech Connect

    1999-04-01

    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.

  9. Order and Disorder in Short Block Polymers

    NASA Astrophysics Data System (ADS)

    Bates, Frank S.

    2015-03-01

    Block polymers have captivated the interest of scientists and engineers for more than half a century. The phase behavior of this class of self-assembling soft material is well understood in the limit of infinite molecular weight, based on the self-consistent mean-field theory pioneered by Leibler. At practical molecular sizes, typically around N ~ 1000 repeat units, fluctuation effects become highly significant in the vicinity of the order disorder transition. One-loop corrections to mean-field theory, first described by Brazovski and applied to block polymers by Fredrickson and Helfand, are not expected to be applicable in this limit. Moreover, the drive towards ever smaller domain dimensions, and the opportunity to circumvent transport limitations associated with entanglements, have motivated experiments with yet lower molecular weight block polymers, N less than 100. This presentation will describe the consequences of fluctuations and the equilibrium structural properties of short model AB diblock polymers in the symmetric (f = 1/2) and asymmetric (f --> 0) regimes above and below the order-disorder transition. The consequences of fluctuations and access to equilibrium states will be described in the 1-dimensional stripped (lamellar) phase and the ordering of point particles in 3-dimensions, respectively. As N --> 1 computer simulation with realistic molecular detail becomes feasible presenting exciting opportunities to compliment the associated theoretical challenges. Research in collaboration with Sangwoo Lee, Chris Leighton and Timothy Gillard and Supported by NSF-DMR-1104368.

  10. Sinusoidal Regge Oscillations from Short Lived Resonances

    NASA Astrophysics Data System (ADS)

    Sokolovski, D.; Felfli, Z.; Msezane, A. Z.

    2007-06-01

    It is well known that a resonance with a large angular life can produce sharp Breit-Wigner peaks in the energy dependence of integral cross sections [1,2]. Here we show that a short-lived resonance whose angular life is of order of one full rotation may produce a different kind of contribution to the integral cross section. This contribution has a sinousoidal form and its frequency is determined by the rotational constant of the complex. As one of the examples, we analyze the Regge oscillations observed in numerical simulations of the F+H2(v=0,j=0,?=0) ->FH(v'=2,j'=0,?'=0) + H reaction. In particular, we show that these oscillations are produced by two overlapping resonances located near the transition state and the van der Waals well, respectively [3]. [1] J. H. Macek, et al., Phys. Rev. Lett., 93, 183202, (2004). [2] Z. Felfli et al., J. Phys. B 39, L353 (2006) [3] D. Sokolovski, D. De Fazio, S. Cavalli and V. Aquilanti, J. Chem. Phys. (2007) (submitted).

  11. INITIAL CHARACTERISTICS OF KEPLER SHORT CADENCE DATA

    SciTech Connect

    Gilliland, Ronald L.; Jenkins, Jon M.; Caldwell, Douglas A.; Clarke, Bruce D.; Quintana, Elisa V.; Twicken, Joseph D.; Van Cleve, Jeffrey E.; Hall, Jennifer; Klaus, Todd; McCauliff, Sean

    2010-04-20

    The Kepler Mission offers two options for observations-either long cadence (LC) used for the bulk of core mission science, or short cadence (SC) which is used for applications such as asteroseismology of solar-like stars and transit timing measurements of exoplanets where the 1 minute sampling is critical. We discuss the characteristics of SC data obtained in the 33.5 day long Quarter 1 observations with Kepler which completed on 2009 June 15. The truly excellent time series precisions are nearly Poisson limited at 11th magnitude providing per-point measurement errors of 200 parts-per-million per minute. For extremely saturated stars near seventh magnitude precisions of 40 ppm are reached, while for background limited measurements at 17th magnitude precisions of 7 mmag are maintained. We note the presence of two additive artifacts, one that generates regularly spaced peaks in frequency, and one that involves additive offsets in the time domain inversely proportional to stellar brightness. The difference between LC and SC sampling is illustrated for transit observations of TrES-2.

  12. SHORT COMMUNICATION Delineating geographic boundaries of the woolly mouse opossums,

    E-print Network

    DeSalle, Rob

    SHORT COMMUNICATION Delineating geographic boundaries of the woolly mouse opossums, Micoureus on molecular classification of the woolly mouse opossum, Micoureus spp., in the southeastern Atlantic Forest

  13. Short-term energy outlook. Quarterly projections, Third quarter 1994

    SciTech Connect

    Not Available

    1994-08-02

    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.

  14. Biomechanical Comparison of Shorts With Different Pads

    PubMed Central

    Marcolin, Giuseppe; Petrone, Nicola; Reggiani, Carlo; Panizzolo, Fausto A.; Paoli, Antonio

    2015-01-01

    Abstract An intensive use of the bicycle may increase the risk of erectile dysfunction and the compression of the perineal area has been showed to be a major mechanism leading to sexual alterations compromising the quality of life. Manufacturers claim that pads contribute to increase cyclists perineal protection ensuring a high level of comfort. To investigate the influence of various cycling pads with regard to perineal protection and level of comfort. Nine club road cyclists rode 20 min on a drum simulator, located at the Nutrition and Exercise Physiology Laboratory, at a constant speed and gear ratio wearing the shorts with 3 cycling pads of different design and thickness: basic (BAS), intermediate (INT), and endurance (END). Kinematics and pressure data were recorded at min 5, 15, and 20 of the test using a motion capture system and a pressure sensor mat. The variables of interest were: 3-dimensional pelvis excursions, peak pressure, mean pressure, and vertical force. The comfort level was assessed with a ranking order based on the subjects’ perception after the 20-min trials and measuring the vertical ground reaction force under the anterior wheel as well as the length of the center of pressure (COP) trajectory on the saddle. Results showed that the vertical force and the average value of mean pressure on the saddle significantly decreased during the 20-min period of testing for BAS and END. Mean peak pressure on the corresponding perineal cyclist area significantly increased only for BAS during the 20-min period. Interestingly objective comfort indexes measured did not match cyclists subjective comfort evaluation. The lower capacity of BAS to reduce the peak pressure on the corresponding perineal area after 20 min of testing, together with its positive comfort evaluation, suggest that a balance between protection and perceived comfort should be taken into account in the choice of the pad. Hence, the quantitative approach of objective comfort indexes introduced in this study could be helpful for manufacturers in the development of their protective pads. PMID:26200626

  15. Short Dynamic Fibrils in Sunspot Chromospheres

    NASA Astrophysics Data System (ADS)

    Rouppe van der Voort, L.; de la Cruz Rodríguez, J.

    2013-10-01

    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.

  16. Short Rotation Crops in the United States

    SciTech Connect

    Wright, L.L.

    1998-06-04

    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.

  17. Coming up short on nonfinancial performance measurement.

    PubMed

    Ittner, Christopher D; Larcker, David F

    2003-11-01

    Companies in increasing numbers are measuring customer loyalty, employee satisfaction, and other nonfinancial areas of performance that they believe affect profitability. But they've failed to relate these measures to their strategic goals or establish a connection between activities undertaken and financial outcomes achieved. Failure to make such connections has led many companies to misdirect their investments and reward ineffective managers. Extensive field research now shows that businesses make some common mistakes when choosing, analyzing, and acting on their nonfinancial measures. Among these mistakes: They set the wrong performance targets because they focus too much on short-term financial results, and they use metrics that lack strong statistical validity and reliability. As a result, the companies can't demonstrate that improvements in nonfinancial measures actually affect their financial results. The authors lay out a series of steps that will allow companies to realize the genuine promise of nonfinancial performance measures. First, develop a model that proposes a causal relationship between the chosen nonfinancial drivers of strategic success and specific outcomes. Next, take careful inventory of all the data within your company. Then use established statistical methods for validating the assumed relationships and continue to test the model as market conditions evolve. Finally, base action plans on analysis of your findings, and determine whether those plans and their investments actually produce the desired results. Nonfinancial measures will offer little guidance unless you use a process for choosing and analyzing them that relies on sophisticated quantitative and qualitative inquiries into the factors actually contributing to economic results. PMID:14619154

  18. 42 CFR 412.529 - Special payment provision for short-stay outliers.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ...provision for short-stay outliers. 412.529 Section...provision for short-stay outliers. (a) Short-stay outlier defined. “Short-stay...for a short-stay outlier case is adjusted by...amount for short-stay outliers for each...

  19. A Homozygous B3GAT3 Mutation Causes a Severe Syndrome with Multiple Fractures, Extending the Number of Linkeropathy Syndromes

    PubMed Central

    Jones, Kelly L.; Schwarze, Ulrike; Adam, Margaret P.; Byers, Peter H.; Mefford, Heather C.

    2015-01-01

    Linkeropathies are a group of syndromes characterized by short stature, radio-ulnar synostosis, decreased bone density, congenital contractures and dislocations, joint laxity, broad digits, brachycephaly, small mouth, prominent eyes, short or webbed neck, congenital heart defects and mild developmental delay. Linkeropathies are due to enzymatic defects in the synthesis of the common linker region that joins the core proteins to their glycosaminoglycan side chains. The enzyme glucuronyltransferase 1, encoded by B3GAT3, adds the last of the four saccharides that comprise the linker region. Mutations in B3GAT3 have been reported in two unrelated families with the same homozygous mutation (c.830G>A, p.Arg277Gln). We report a patient with a novel homozygous B3GAT3 (c.667G>A, p.Gly223Ser) mutation and a history of multiple fractures, blue sclerae, and glaucoma. Our patient is a 12 month old boy born to consanguineous parents and, like previously reported patients, he has bilateral radio-ulnar synostosis, severe osteopenia, an increased gap between first and second toes, bilateral club feet, and atrial and ventricular septal defects. He also the additional features of bilateral glaucoma, hypertelorism, upturned nose with anteverted nares, a small chest, a diaphragmatic hernia, multiple fractures, arachnodactyly, overlapping fingers with ulnar deviation, lymphedema, hypotonia, hearing loss, and perinatal cerebral infarction with bilateral supra- and infratentorial subdural hematomas. We provide a clinical report to highlight the extended phenotypic range of B3GAT3 mutations and a comparative overview of the phenotypic features of the linkeropathies associated with mutations in XYLT1, B4GALT7, B3GALT6, and B3GAT3. PMID:26086840

  20. A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes.

    PubMed

    Jones, Kelly L; Schwarze, Ulrike; Adam, Margaret P; Byers, Peter H; Mefford, Heather C

    2015-11-01

    Linkeropathies are a group of syndromes characterized by short stature, radio-ulnar synostosis, decreased bone density, congenital contractures and dislocations, joint laxity, broad digits, brachycephaly, small mouth, prominent eyes, short or webbed neck, congenital heart defects and mild developmental delay. Linkeropathies are due to enzymatic defects in the synthesis of the common linker region that joins the core proteins to their glycosaminoglycan (GAG) side chains. The enzyme glucuronyltransferase 1, encoded by B3GAT3, adds the last four saccharides comprising the linker region. Mutations in B3GAT3 have been reported in two unrelated families with the same homozygous mutation (c.830G>A, p.Arg277Gln). We report on a patient with a novel homozygous B3GAT3 (c.667G>A, p.Gly223Ser) mutation and a history of multiple fractures, blue sclerae, and glaucoma. Our patient was a 12-month-old boy born to consanguineous parents and, like previously reported patients, he had bilateral radio-ulnar synostosis, severe osteopenia, an increased gap between first and second toes, bilateral club feet, and atrial and ventricular septal defects. He had the additional features of bilateral glaucoma, hypertelorism, upturned nose with anteverted nares, a small chest, a diaphragmatic hernia, multiple fractures, arachnodactyly, overlapping fingers with ulnar deviation, lymphedema, hypotonia, hearing loss, and perinatal cerebral infarction with bilateral supra- and infratentorial subdural hematomas. We highlight the extended phenotypic range of B3GAT3 mutations and a provide comparative overview of the phenotypic features of the linkeropathies associated with mutations in XYLT1, B4GALT7, B3GALT6, and B3GAT3. © 2015 Wiley Periodicals, Inc. PMID:26086840

  1. Short Paper Chronology of glacial Lake Agassiz meltwater routed

    E-print Network

    Fisher, Timothy G.

    Short Paper Chronology of glacial Lake Agassiz meltwater routed to the Gulf of Mexico Timothy G of glacial Lake Agassiz indicate that meltwater delivery to the Mississippi valley was disrupted at 10,800 14.P. and that the occupancy in late-Emerson time was likely short-lived with minimal spillway erosion. © 2003 Elsevier Science

  2. Short Report Testosterone and Male Cognitive Performance in Tsimane

    E-print Network

    Gurven, Michael

    is positively associated with short- and long-term verbal memory (b 5 0.267, P 5 0.018; b 5 0.326, P 5 0­86 (median 5 49) participated in a cognitive battery (assessing short- and long-term recall, digit span, semantic memory, and visual scan) and provided urine and blood samples to measure testosterone and markers

  3. Double Dissociations in Visual and Spatial Short-Term Memory

    ERIC Educational Resources Information Center

    Klauer, Karl Christoph; Zhao, Zengmei

    2004-01-01

    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,…

  4. 47 CFR 73.213 - Grandfathered short-spaced stations.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... 47 Telecommunication 4 2012-10-01 2012-10-01 false Grandfathered short-spaced stations. 73.213 Section 73.213 Telecommunication FEDERAL COMMUNICATIONS COMMISSION (CONTINUED) BROADCAST RADIO SERVICES RADIO BROADCAST SERVICES FM Broadcast Stations § 73.213 Grandfathered short-spaced stations. (a) Stations at locations authorized prior to...

  5. Short-Term Temporal Stability in Observed Retail Food Characteristics

    ERIC Educational Resources Information Center

    Zenk, Shannon N.; Grigsby-Toussaint, Diana S.; Curry, Susan J.; Berbaum, Michael; Schneider, Linda

    2010-01-01

    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…

  6. 26 CFR 1.6655-5 - Short taxable year.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ...an initial taxable year) for which a payment of estimated tax is required to be made. (b) Exception to payment of estimated tax. In the case of a short taxable year, no payment of estimated tax is required if— (1) The short...

  7. Sleep-Wake Actigraphy and Light Exposure During Spaceflight - Short

    NASA Technical Reports Server (NTRS)

    Czeisler, Charles A.; Wright, Kenneth P., Jr.; Ronda, Joseph

    2009-01-01

    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.

  8. Short-term synaptic plasticity and heterogeneity in neural systems

    E-print Network

    Mejías, Jorge F.

    leads to enhanced long-term memory capacities, a higher robustness of memory to noise, and irregularity. Keywords: short-term depression and facilitation, storage capacity, up and down states, hetero- geneityShort-term synaptic plasticity and heterogeneity in neural systems J. F. Mejias , H. J. Kappen , A

  9. 22 CFR 62.21 - Short-term scholars.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... shall satisfy the definition of a short-term scholar as set forth in § 62.4. (e) Cross-cultural activities and orientation. Due to the nature of such exchanges, sponsors of programs for short-term scholars shall be exempted from the requirements of providing cross-cultural activities and orientation as...

  10. 22 CFR 62.21 - Short-term scholars.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... shall satisfy the definition of a short-term scholar as set forth in § 62.4. (e) Cross-cultural activities and orientation. Due to the nature of such exchanges, sponsors of programs for short-term scholars shall be exempted from the requirements of providing cross-cultural activities and orientation as...

  11. Short-Term Reciprocity in Late Parent-Child Relationships

    ERIC Educational Resources Information Center

    Leopold, Thomas; Raab, Marcel

    2011-01-01

    Long-term concepts of parent-child reciprocity assume that the amount of support given and received is only balanced in a generalized fashion over the life course. We argue that reciprocity in parent-child relationships also operates in the short term. Our analysis of short-term reciprocity focuses on concurrent exchange in its main upward and…

  12. Reducing Aviation's Environmental Impact Through Large Aircraft For Short Ranges

    E-print Network

    Zingg, David W.

    Reducing Aviation's Environmental Impact Through Large Aircraft For Short Ranges Gaetan K.W Kenway- ever, the majority of aircraft used on these routes have design ranges considerably longer than 1 aircraft designed specifically for the majority of flights -- Large Aircraft for Short Ranges (LASR

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

    E-print Network

    Short, Daniel

    Short, D.B. 1 Ground Water Contamination by Arsenic in South-Western Pennsylvania Short, D by arsenic is one of the world's most serious environmental problems. Chronic exposure to low levels of arsenic may result in a variety of non-cancer and cancer effects. Arsenic is derived mainly from natural

  14. Short haul air passenger data sources in the United States

    NASA Technical Reports Server (NTRS)

    Al-Kazily, J.; Gosling, G.; Horonjeff, R.

    1977-01-01

    The sources and characteristics of existing data on short haul air passenger traffic in the United States domestic air market are described along with data availability, processing, and costs. Reference is made to data derived from aircraft operations since these data can be used to insure that no short haul operators are omitted during the process of assembling passenger data.

  15. Conceptualizing Short-term Treatment: A Comparative Review.

    ERIC Educational Resources Information Center

    Burlingame, Gary M.; Fuhriman, Addie

    1987-01-01

    Proposes classification system for short-term and time-limited treatments that descriptively orders different types of brief treatments. Uses system to compare and contrast conceptually planned models of short-term therapy. Discusses research and practice implications for counseling psychologists. (Author/NB)

  16. Short-Form Philadelphia Naming Test: Rationale and Empirical Evaluation

    ERIC Educational Resources Information Center

    Walker, Grant M.; Schwartz, Myrna F.

    2012-01-01

    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…

  17. Short-Circuit Modeling of a Wind Power Plant: Preprint

    SciTech Connect

    Muljadi, E.; Gevorgian, V.

    2011-03-01

    This paper investigates the short-circuit behavior of a WPP for different types of wind turbines. The short-circuit behavior will be presented. Both the simplified models and detailed models are used in the simulations and both symmetrical faults and unsymmetrical faults are discussed.

  18. Temporal Dynamics of Recovery from Extinction Shortly after Extinction Acquisition

    ERIC Educational Resources Information Center

    Archbold, Georgina E.; Dobbek, Nick; Nader, Karim

    2013-01-01

    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…

  19. Comparison of de novo short read assemblers on metagenomic data

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Next-generation sequencing technologies have potentials to revolutionize genomics and biological researches. A flurry of short-read assemblers have been developed recently to facilitate the analysis of the short sequences generated using these technologies. However, none of these assemblers has spec...

  20. Of Vowel Shifts Great, Small, Long, and Short.

    ERIC Educational Resources Information Center

    Schendl, Herbert; Ritt, Nikolaus

    2002-01-01

    Argues that the development of Early Modern English short vowels can be accounted for in terms of a chain shift that essentially lowered and centralized them. The shift, referred to as short vowel shift, is as coherent and systematic as the comparably well established great vowel shift. (Author/VWL)

  1. Evaluating ecosystem processes in willow short rotation coppice bioenergy plantations

    E-print Network

    Evaluating ecosystem processes in willow short rotation coppice bioenergy plantations R E B E C C and lit- ter decomposition varied between Short Rotation Coppice (SRC) willow bioenergy plantations and direct searches to investi- gate variation in predation pressure. Decomposition rate was higher in willow

  2. ANALYSIS OF SHORT-TERM SOLAR RADIATION DATA Gayathri Vijayakumar

    E-print Network

    Wisconsin at Madison, University of

    ANALYSIS OF SHORT-TERM SOLAR RADIATION DATA Gayathri Vijayakumar Sanford A. Klein William A. Simulation studies of solar energy systems have generally used these hourly values to estimate long- term distribution and diffuse fraction relationships for short-term solar radiation data as compared to existing

  3. RESEARCH ARTICLE Empirical assessment of short-term variability from

    E-print Network

    RESEARCH ARTICLE Empirical assessment of short-term variability from utility-scale solar PV plants), whereas "regulation" manages short-term variability in demand and supply. Variability of solar resources 10027, USA 2 First Solar, Inc., 350 West Washington Street, Suite 600, Tempe, AZ 85281, USA ABSTRACT

  4. Short-term energy outlook annual supplement, 1993

    SciTech Connect

    1993-08-06

    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.

  5. ROBERT B. SHORT SCHOLARSHIP IN ZOOLOGY Department of Biological Science

    E-print Network

    Ronquist, Fredrik

    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

  6. Type Inference Builds a Short Cut to Deforestation Olaf Chitil

    E-print Network

    Kent, University of

    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

  7. SATELLITE BASED SHORT-TERM FORECASTING OF SOLAR IRRADANCE

    E-print Network

    Heinemann, Detlev

    SATELLITE BASED SHORT-TERM FORECASTING OF SOLAR IRRADANCE - COMPARISON OF METHODS AND ERROR into existing energy supply structures. As far as short-term time horizons (up to 2h) are concerned, satellite the calculation of cloud index images from satellite images and the derivation of ground irradiance from the cloud

  8. Short term forecasting of solar radiation based on satellite data

    E-print Network

    Heinemann, Detlev

    Short term forecasting of solar radiation based on satellite data Elke Lorenz, Annette Hammer term time range of 30 minutes to 6 hours. As far as short term horizons are concerned, satellite data satellite data, are calculated from the satellite images. To predict the future cloud index image in a first

  9. Short-Term Memory for Auditory Sequences and Reading Skill.

    ERIC Educational Resources Information Center

    Holzman, Thomas G.; Payne, M. Carr, Jr.

    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…

  10. How incorrect annotations evolve the case of short ORFs

    E-print Network

    Linial, Michal

    of the human genome sequence is still incom- plete. The outstanding tasks include filling in some gapsHow incorrect annotations evolve ­ the case of short ORFs Michal Linial Department of Biological in other short open reading frames (ORFs). Although the focus is on the human genome, other genomes

  11. The Eras and Trends of Automatic Short Answer Grading

    ERIC Educational Resources Information Center

    Burrows, Steven; Gurevych, Iryna; Stein, Benno

    2015-01-01

    Automatic short answer grading (ASAG) is the task of assessing short natural language responses to objective questions using computational methods. The active research in this field has increased enormously of late with over 80 papers fitting a definition of ASAG. However, the past efforts have generally been ad-hoc and non-comparable until…

  12. Keeping It Real: Substantive Learning on a Short Calendar

    ERIC Educational Resources Information Center

    Lostroh, C. Phoebe

    2007-01-01

    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…

  13. Short-range correlations in finite nuclear systems

    E-print Network

    Giampaolo Co'

    2002-11-04

    Recent results concerning the use of the Correlated Basis Function to investigate the ground state properties of medium-heavy doubly magic nuclei with microscopic interactions are presented. The calculations have been done by considering a Short-Range Correlation between nucleons. The possibility of identifying effects produced by Short-Range Correlations in electromagnetically induced phenomena is discussed.

  14. Propagation of ultra-short solitons in stochastic Maxwell's equations

    SciTech Connect

    Kurt, Levent; Schäfer, Tobias

    2014-01-15

    We study the propagation of ultra-short short solitons in a cubic nonlinear medium modeled by nonlinear Maxwell's equations with stochastic variations of media. We consider three cases: variations of (a) the dispersion, (b) the phase velocity, (c) the nonlinear coefficient. Using a modified multi-scale expansion for stochastic systems, we derive new stochastic generalizations of the short pulse equation that approximate the solutions of stochastic nonlinear Maxwell's equations. Numerical simulations show that soliton solutions of the short pulse equation propagate stably in stochastic nonlinear Maxwell's equations and that the generalized stochastic short pulse equations approximate the solutions to the stochastic Maxwell's equations over the distances under consideration. This holds for both a pathwise comparison of the stochastic equations as well as for a comparison of the resulting probability densities.

  15. The effect of multiple encounters on short period comet orbits

    NASA Technical Reports Server (NTRS)

    Lowrey, B. E.

    1972-01-01

    The observed orbital elements of short period comets are found to be consistent with the hypothesis of derivation from long period comets as long as two assumptions are made. First, the distribution of short period comets has been randomized by multiple encounters with Jupiter and second, the short period comets have lower velocities of encounter with Jupiter than is generally expected. Some 16% of the observed short period comets have lower encounter velocities than is allowed mathematically using Laplace's method. This may be due to double encounter processes with Jupiter and Saturn, or as a result of prolonged encounters. The distribution of unobservable short period comets can be inferred in part from the observed comets. Many have orbits between Jupiter and Saturn with somewhat higher inclinations than those with perihelions near the earth. Debris from those comets may form the major component of the zodiacal dust.

  16. Tin Whisker Electrical Short Circuit Characteristics Part 2

    NASA Technical Reports Server (NTRS)

    Courey, Karim J.; Asfour, Shihab S.; Bayliss, Jon A.; Ludwib, Lawrence L.; Zapata, Maria C.

    2007-01-01

    Existing risk simulations make the assumption that when a free tin whisker has bridged two adjacent exposed electrical conductors, the result is an electrical short circuit. This conservative assumption is made because shorting is a random event that has a currently unknown probability associated with it. Due to contact resistance electrical shorts may not occur at lower voltage levels. In this experiment, we study the effect of varying voltage on the breakdown of the contact resistance which leads to a short circuit. From this data we can estimate the probability of an electrical short, as a function of voltage, given that a free tin whisker has bridged two adjacent exposed electrical conductors. In addition, three tin whiskers grown from the same Space Shuttle Orbiter card guide used in the aforementioned experiment were cross-sectioned and studied using a focused ion beam (FIB).

  17. BOOK REVIEW: Chaos: A Very Short Introduction

    NASA Astrophysics Data System (ADS)

    Klages, R.

    2007-07-01

    This book is a new volume of a series designed to introduce the curious reader to anything from ancient Egypt and Indian philosophy to conceptual art and cosmology. Very handy in pocket size, Chaos promises an introduction to fundamental concepts of nonlinear science by using mathematics that is `no more complicated than X=2. Anyone who ever tried to give a popular science account of research knows that this is a more challenging task than writing an ordinary research article. Lenny Smith brilliantly succeeds to explain in words, in pictures and by using intuitive models the essence of mathematical dynamical systems theory and time series analysis as it applies to the modern world. In a more technical part he introduces the basic terms of nonlinear theory by means of simple mappings. He masterly embeds this analysis into the social, historical and cultural context by using numerous examples, from poems and paintings over chess and rabbits to Olbers' paradox, card games and `phynance'. Fundamental problems of the modelling of nonlinear systems like the weather, sun spots or golf balls falling through an array of nails are discussed from the point of view of mathematics, physics and statistics by touching upon philosophical issues. At variance with Laplace's demon, Smith's 21st century demon makes `real world' observations only with limited precision. This poses a severe problem to predictions derived from complex chaotic models, where small variations of initial conditions typically yield totally different outcomes. As Smith argues, this difficulty has direct implications on decision-making in everyday modern life. However, it also asks for an inherently probabilistic theory, which somewhat reminds us of what we are used to in the microworld. There is little to criticise in this nice little book except that some figures are of poor quality thus not really reflecting the beauty of fractals and other wonderful objects in this field. I feel that occasionally the book is also getting a bit too intricate for the complete layman, and experts may not agree on all details of the more conceptual discussions. Altogether I thoroughly enjoyed reading this book. It was a happy companion while travelling and a nice bedtime literature. It is furthermore an excellent reminder of the `big picture' underlying nonlinear science as it applies to the real world. I will gladly recommend this book as background literature for students in my introductory course on dynamical systems. However, the book will be of interest to anyone who is looking for a very short account on fundamental problems and principles in modern nonlinear science.

  18. Short-Term Memory for Temporal Intervals: Contrasting Explanations of the Choose-Short Effect in Pigeons

    ERIC Educational Resources Information Center

    Pinto, Carlos; Machado, Armando

    2011-01-01

    To better understand short-term memory for temporal intervals, we re-examined the choose-short effect. In Experiment 1, to contrast the predictions of two models of this effect, the subjective shortening and the coding models, pigeons were exposed to a delayed matching-to-sample task with three sample durations (2, 6 and 18 s) and retention…

  19. The Department Of Film and The UNLV Short Film Archive presents the 7 48-HOUR SHORT FILM contest

    E-print Network

    Walker, Lawrence R.

    The Department Of Film and The UNLV Short Film Archive presents the 7 th annual 48-HOUR SHORT FILM contest This event is open to anyone who) will write, shoot and edit a film no less than 1 minute and no more than 5

  20. The Department Of Film and The UNLV Short Film Archive presents the 8th 48-HOUR SHORT FILM contest

    E-print Network

    Walker, Lawrence R.

    The Department Of Film and The UNLV Short Film Archive presents the 8th annual 48-HOUR SHORT FILM contest This event is open to anyone who) will write, shoot and edit a film no less than 1 minute and no more than 5