Sample records for short stature hypotonia

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

    PubMed Central

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

    2011-01-01

    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. Imaging in short stature

    PubMed Central

    Chaudhary, Vikas; Bano, Shahina

    2012-01-01

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

  3. Short and Tall Stature

    Microsoft Academic Search

    Jurgen H. Bramswig

    2007-01-01

    Short or tall stature is primarily a normal variation of height. It is part of the continuum of the normal Gaussian distribution curve which defines the lower and upper limit of normal as the 3rd and 97th percentile. Within this context it is very important to differentiate normal variations in height and growth from pathological conditions. Normal variations in height

  4. Approach to short stature.

    PubMed

    Yadav, Sangeeta; Dabas, Aashima

    2015-05-01

    Growth is an essential and continuous process in animate objects. Linear growth or height is considered synonymous to growth by most children and their parents. Any disturbance or faltering in height is thus, a frequent cause of concern for the family. The foremost responsibility of the clinician is to detect whether the growth pattern is appropriate or deviant from the normal. A detailed clinical evaluation including accurate anthropometry is essential to suspect and diagnose the underlying cause. The role of more sophisticated investigations is reserved for fewer children who are pathologically short. Treatment is directed as per the primary etiology of short stature. Growth hormone therapy is a highly specific and targeted therapy which should be instituted only under expert consultation. PMID:25465677

  5. Syndromic Disorders with Short Stature

    PubMed Central

    ??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. Growing up with short stature : Psychosocial consequences of hormone treatment

    Microsoft Academic Search

    J. Visser-van Balen

    2007-01-01

    Growing up with short stature. Psychosocial consequences of hormone treatment To enhance height in children with short stature, growth hormone (GH) can be used. In short children without a detectable pathology underlying their short stature, there is no medical rationale for growth hormone treatment. In order to justify this treatment in short but otherwise healthy children, it is to be

  7. Growth hormone, enhancement and the pharmaceuticalisation of short stature.

    PubMed

    Morrison, Michael

    2015-04-01

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

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

    MedlinePLUS

    ... disorder catalog Conditions > Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay (often shortened to ... is SHORT syndrome? Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay, commonly known by ...

  9. Should We Treat Children with Idiopathic Short Stature?

    Microsoft Academic Search

    C. J. H. Kelnar; K. Albertsson-Wikland; R. L. Hintz; M. B. Ranke; R. G. Rosenfeld

    1999-01-01

    The use of growth hormone (GH) to treat short children who are clearly GH-deficient is now well accepted. However, GH treatment of short children who have no currently recognizable abnormalities in their GH-insulin-like growth factor I axis remains controversial. Whether such children with so-called idiopathic short stature (ISS) should be treated with GH was the subject of an international workshop

  10. Assessing Short-Statured Children for Growth Hormone Deficiency

    Microsoft Academic Search

    W. Chemaitilly; C. Trivin; J.-C. Souberbielle; R. Brauner

    2003-01-01

    Aim: To optimize the workup of short-statured children by defining the most appropriate tools for diagnosing growth hormone (GH) deficiency. Methods: Patients were assigned to prepubertal (n = 113) or pubertal (n = 112, including 25 boys primed with testosterone) age groups. Mean plasma GH concentration during sleep, GH peak after provocative test, and insulin-like growth factor I (IGF-I) were

  11. Short stature, hyperkalemia and acidosis: A defect in renal transport of potassium

    Microsoft Academic Search

    Adrian Spitzer; Chester M Edelmann; Lee D Goldberg; Philip H Henneman

    1973-01-01

    Short stature, hyperkalemia, and acidosis: A defect in renal transport of potassium. An eleven-year-old boy presented with short stature, hyperkalemia, and metabolic acidosis. No endocrine cause for a short stature could be demonstrated. Renal function, as assessed by inulin and PAH clearances, concentrating and diluting capacity, and ability to acidify the urine and to excrete net acid, was normal. No

  12. Etiologies and characteristics of children with chief complaint of short stature

    PubMed Central

    Song, Kyung Chul; Jin, Song Lee; Kwon, Ah Reum; Chae, Hyun Wook; Ahn, Jung Min; Kim, Duk Hee

    2015-01-01

    Purpose Short stature is a very common reason for visits to pediatric endocrine clinics. It could be the first sign of an underlying disease. The purpose of this study is to investigate the etiologies and general characteristics of subjects who visited an outpatient clinic due to short stature. Methods We retrospectively reviewed the medical records of 3,371 patients who visited Severance Children's Hospital with the chief complaint of short stature from 2010 to 2012. Medical history, auxological data, and laboratory tests including bone age were collected and analyzed. Chromosome studies or combined pituitary function tests were performed if needed. Results Approximately 89.4% of the subjects with the chief complaint of short stature who visited the outpatient clinic were of normal height, and only 10.6% of subjects were identified as having short stature. Of the subject of short stature, 44.7% were classified as having normal variant short stature; that is, familial short stature (23.0%), constitutional delay in growth (17.7%), and mixed form (3.9%). Pathological short stature was found in 193 subjects (54.2%). Among pathological short stature, most common etiology was growth hormone deficiency (GHD) (38.9%). Conclusion A majority of children had a normal height. Among children with short stature, pathological short stature and normal variants occupied a similar percentage. GHD was the most common cause of pathological short stature and found in about 20% of the children with short stature. In pathological short stature, the height, height velocity, and IGF-1 level were lower than in normal variants.

  13. 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

  14. Towards identification of molecular mechanisms of short stature

    PubMed Central

    2013-01-01

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

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

    PubMed Central

    Li, Mingyan; Zou, Chaochun; Zhao, Zhengyan

    2012-01-01

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

  16. Differences in physical characteristics, perinatal histories, and social backgrounds between children with growth hormone deficiency and constitutional short stature

    Microsoft Academic Search

    G V Vimpani; A F Vimpani; S J Pocock; J W Farquhar

    1981-01-01

    Four hundred and forty-nine children with heights below -2.5 SD were identified by screening for height a total population of 48221 in three Scottish cities. Children participating in the study could be classified into 5 groups: severe growth hormone deficiency (n = 13), partial growth hormone deficiency (n = 25), low birthweight short stature (n = 34), constitutional short stature

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

    E-print Network

    Ober, Carole

    1/13 Clinical Features: Patients with Floating Harbor syndrome [OMIM #136140] typically have short anomalies, celiac disease, congenital heart defects, and a high- pitched or nasal voice [2]. Floating Harbor stature, a long nose with low hanging columella, and anomalous thumbs [1]. Inheritance: Floating Harbor

  19. Microphthalmia, marked short stature, hearing loss, and developmental delay: extension of the phenotype of GOMBO syndrome?

    PubMed

    Farrell, S A

    1997-10-01

    An adult male with microphthalmia, severe developmental delay, conductive hearing loss, marked short stature of prenatal onset, and radiographic skeletal changes is described. A review of the literature, focusing on his major findings, suggests that his manifestations might be an extension of the phenotype of GOMBO (growth retardation, ocular abnormalities, microcephaly, brachydactyly, oligophrenia) syndrome. PMID:9295068

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

    PubMed Central

    2014-01-01

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

  1. Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature.

    PubMed

    Wang, Sophie R; Jacobsen, Christina M; Carmichael, Heather; Edmund, Aaron B; Robinson, Jerid W; Olney, Robert C; Miller, Timothy C; Moon, Jennifer E; Mericq, Veronica; Potter, Lincoln R; Warman, Matthew L; Hirschhorn, Joel N; Dauber, Andrew

    2015-04-01

    Based on the observation of reduced stature in relatives of patients with acromesomelic dysplasia, Maroteaux type (AMDM), caused by homozygous or compound heterozygous mutations in natriuretic peptide receptor-B gene (NPR2), it has been suggested that heterozygous mutations in this gene could be responsible for the growth impairment observed in some cases of idiopathic short stature (ISS). We enrolled 192 unrelated patients with short stature and 192 controls of normal height and identified seven heterozygous NPR2 missense or splice site mutations all in the short stature patients, including one de novo splice site variant. Three of the six inherited variants segregated with short stature in the family. Nine additional rare nonsynonymous NPR2 variants were found in three additional cohorts. Functional studies identified eight loss-of-function mutations in short individuals and one gain-of-function mutation in tall individuals. With these data, we were able to rigorously verify that NPR2 functional haploinsufficiency contributes to short stature. We estimate a prevalence of NPR2 haploinsufficiency of between 0 and 1/26 in people with ISS. We suggest that NPR2 gain of function may be a more common cause of tall stature than previously recognized. PMID:25703509

  2. Short stature in Korean women: a contribution to the multifactorial predisposition to gestational diabetes mellitus

    Microsoft Academic Search

    H. C. Jang; H. K. Min; H. K. Lee; N. H. Cho; B. E. Metzger

    1998-01-01

    Summary   We examined the associations between demographic characteristics including short stature and the prevalence of gestational\\u000a diabetes mellitus (GDM) in Korean women. In this study, a total of 9005 pregnant women underwent universal screening for GDM.\\u000a Oral glucose tolerance tests (100 g OGTT) were performed in positive screenees (1 h plasma glucose ? 7.2 mmol\\/l) and GDM was\\u000a diagnosed using

  3. MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability.

    PubMed

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

    2014-12-01

    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

  4. A Novel Deletion of IGF1 in a Patient With Idiopathic Short Stature Provides Insight Into IGF1 Haploinsufficiency

    PubMed Central

    Batey, Lara; Moon, Jennifer E.; Yu, Yongguo; Wu, Bingbing; Hirschhorn, Joel N.; Shen, Yiping

    2014-01-01

    Context: Short stature is a common reason for referral to pediatric endocrinology centers. Frequently, the underlying etiology of short stature is unknown, resulting in a diagnosis of idiopathic short stature. Rare genetic defects in the GH/IGF-1 axis have been found to cause short stature. Objective: The objective of this study was to identify the genetic etiology of short stature in a patient with Idiopathic Short Stature and to review the clinical presentation of patients with genetic defects in IGF1, and specifically IGF-1 haploinsufficiency. Design/Setting/Participants: The index patient was evaluated at an academic medical center, and DNA was obtained from the proband and both parents. Intervention: Genome-wide copy number analysis was performed in the proband with confirmatory quantitative PCR in the proband and his parents. Main Outcome Measure: We measured novel copy number variants (CNVs) thought to explain the patient's short stature. Results: CNV analysis revealed that the proband carried a paternally inherited heterozygous IGF1 gene deletion. His phenotypic features are consistent with those found in previous case reports of IGF-1 deficiency. Conclusions: This study, as the first case of a complete heterozygous 1GF1 deletion, provides insight into the effects of true IGF-1 haploinsufficiency. Given the similarities in phenotype between the present proband and those previously described, it is highly likely that his IGF1 deletion is the cause for his short stature. Broadly, this study emphasizes how CNV analysis and other genetic sequencing techniques are evolving as an important tool to identify genetic causes underlying human disease, allowing for improved diagnosis and targeted treatment. PMID:24243634

  5. Short stature

    MedlinePLUS

    ... or skeletal disorders such as rickets or achondroplasia Chronic diseases such as congenital heart disease , kidney diseases, asthma , sickle cell anemia , thalassemia , juvenile rheumatoid arthritis , inflammatory bowel disease, celiac ...

  6. 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

  7. Rare Copy Number Variants Are a Common Cause of Short Stature

    PubMed Central

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

    2013-01-01

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

  8. [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

  9. Large-Scale Pooled Next-Generation Sequencing of 1077 Genes to Identify Genetic Causes of Short Stature

    PubMed Central

    Wang, Sophie R.; Carmichael, Heather; Andrew, Shayne F.; Miller, Timothy C.; Moon, Jennifer E.; Derr, Michael A.; Hwa, Vivian; Hirschhorn, Joel N.

    2013-01-01

    Context: The majority of patients presenting with short stature do not receive a definitive diagnosis. Advances in genetic sequencing allow for large-scale screening of candidate genes, potentially leading to genetic diagnoses. Objectives: The purpose of this study was to discover genetic variants that contribute to short stature in a cohort of children with no known genetic etiology. Design: This was a prospective cohort study of subjects with short stature. Setting: The setting was a pediatric endocrinology and genetics clinics at an academic center. Patients: A total of 192 children with short stature with no defined genetic etiology and 192 individuals of normal stature from the Framingham Heart Study were studied. Intervention: Pooled targeted sequencing using next-generation DNA sequencing technology of the exons of 1077 candidate genes was performed. Main Outcome Measures: The numbers of rare nonsynonymous genetic variants found in case patients but not in control subjects, known pathogenic variants in case patients, and potentially pathogenic variants in IGF1R were determined. Results: We identified 4928 genetic variants in 1077 genes that were present in case patients but not in control subjects. Of those, 1349 variants were novel (898 nonsynonymous). False-positive rates from pooled sequencing were 4% to 5%, and the false-negative rate was 0.1% in regions covered well by sequencing. We identified 3 individuals with known pathogenic variants in PTPN11 causing undiagnosed Noonan syndrome. There were 9 rare potentially nonsynonymous variants in IGF1R, one of which is a novel, probably pathogenic, frameshift mutation. A previously reported pathogenic variant in IGF1R was present in a control subject. Conclusions: Large-scale sequencing efforts have the potential to rapidly identify genetic etiologies of short stature, but data interpretation is complex. Noonan syndrome may be an underdiagnosed cause of short stature. PMID:23771920

  10. A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature

    PubMed Central

    Kuechler, A.; Hentschel, J.; Kurth, I.; Stephan, B.; Prott, E.-C.; Schweiger, B.; Schuster, A.; Wieczorek, D.; Lüdecke, H.-J.

    2012-01-01

    Amelogenesis imperfecta (AI) is a clinically and genetically heterogeneous group of inherited defects of enamel formation. In isolated AI (no additional segregating features), mutations in at least 7 genes are known so far, causing dominant, recessive or X-linked AI and allowing the identification of the molecular etiology in 40–50% of affected families. We report on 2 siblings (an 11-year-old female and a 7-year-old male) born to consanguineous Turkish parents, with AI and mild, proportionate short stature. Both parents have normal teeth, but mother, maternal grandmother and great-grandfather are/were also of short stature. A spine X-ray performed in the girl excluded brachyolmia. Affymetrix GenomeWide SNP6.0 Array analysis identified no pathogenic copy number changes, but showed sharing of large homozygous regions, including chromosome band 15q21.3 containing the WDR72 gene. WDR72 sequence analysis in both siblings revealed homozygosity for a novel stop mutation in exon 10 (c.997A>T, p.Lys333X) explaining the AI phenotype. Mutations in WDR72 are a very rare cause of autosomal-recessive hypomaturation type of isolated AI. The mutation described in our patients specifies the diagnosis AI IIA3 and represents only the sixth WDR72 mutation reported so far. The WDR72 protein is critical for dental enamel formation, but its exact function is still unknown. PMID:23293580

  11. Molecular cytogenetic characterization of a familial pericentric inversion 3 associated with short stature.

    PubMed

    Dutta, Usha R; Hansmann, Ingo; Schlote, Dietmar

    2015-03-01

    Short stature refers to the height of an individual which is below expected. The causes are heterogenous and influenced by several genetic and environmental factors. Chromosomal abnormalities are a major cause of diseases and cytogenetic mapping is one of the powerful tools for the identification of novel disease genes. Here we report a three generation family with a heterozygous pericentric inversion of 46, XX, inv(3) (p24.1q26.1) associated with Short stature. Positional cloning strategy was used to physically map the breakpoint regions by Fluorescence in situ hybridization (FISH). Fine mapping was performed with Bacterial Artificial Chromosome (BAC) clones spanning the breakpoint regions. In order to further characterize the breakpoint regions extensive molecular mapping was carried out with the breakpoint spanning BACs which narrowed down the breakpoint region to 2.9 kb and 5.3 kb regions on p and q arm respectively. Although these breakpoints did not disrupt any validated genes, we had identified a novel putative gene in the vicinity of 3q26.1 breakpoint region by in silico analysis. Trying to find the presence of any transcripts of this putative gene we analyzed human total RNA by RT-PCR and identified transcripts containing three new exons confirming the existence of a so far unknown gene close to the 3q breakpoint. PMID:25595572

  12. Body composition and spontaneous growth hormone secretion in normal short stature children.

    PubMed

    Abdenur, J E; Solans, C V; Smith, M M; Carman, C; Pugliese, M T; Lifshitz, F

    1994-02-01

    This study was designed to compare the relationship of measured and estimated indices of adiposity with the spontaneous GH secretion (SGHS) in 37 normal short stature children. Fifteen of the 37 patients (10 males and 5 females) were pubertal, and 22 (17 males and 5 females) were prepubertal. All patients underwent a review of their medical history, a physical exam, laboratory tests, and a nutritional assessment that included anthropometry and evaluation of body composition by bioelectric impedance. The percentage of body fat and body fat mass index were used as measured indices of adiposity. The weight for height ratio, body mass index, and body mass index z-scores were calculated and used as estimated indices of adiposity. Our results showed that SGHS is greatly influenced by variations in adiposity in normal short stature children, and measured indices of adiposity demonstrated the strongest negative correlation with SGHS. Gender differences were apparent in the degree of adiposity that modified SGHS, and it appears that adiposity altered the amplitude of GH pulses in pubertal patients and the number of pulses in prepubertal children. These results suggest that interpretation of SGHS must take into account body composition and gender in addition to pubertal status. PMID:8106611

  13. 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

  14. 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

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

    PubMed

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

    2013-06-01

    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

  16. 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

  17. 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.

  18. A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families.

    PubMed

    Shalev, Stavit A; Spiegel, Ronen; Borochowitz, Zvi U

    2012-04-01

    Disproportionate short stature is a heterogeneous group of hereditary disorders, which are classified according to their mode of inheritance, their clinical skeletal and non-skeletal manifestations, and their radiological characteristics. Herein, we inform on eight individuals with severe disproportionate short stature from two unrelated consanguineous families of Arab-Muslim ancestry. The adult height of the affected individuals is between 112 cm and 127 cm, and is due to pre- and post-natal growth retardation, which probably manifests as early as the second trimester of pregnancy. At a young age, the phenotype is characterized by a short stature, a relatively large head, and a long triangular face, and this phenotype later evolves to one with in which the head is relatively small, the mandible is large and pointy. The affected individuals have normal cognitive abilities and lack any neurological deficits. Other typical features include a prominent nose, a voice with an unusual high-pitched sound, relatively small ears, clinodactyly, brachydactyly, small hands, hypoplastic fingernails, a waddling gait, and sparse hair post-pubertally. Typical skeletal changes include short long bones, especially the femurs and humeri, with mild metaphyseal changes and very short femoral necks. After due consideration of the other hereditary causes of disproportionate short stature and close examination of the pedigrees of the two families, we concluded that these eight individuals have the same hitherto unreported form of severe disproportionate short stature that is inherited in the autosomal recessive mode. PMID:22440536

  19. Alström Syndrome is associated with short stature and reduced GH reserve

    PubMed Central

    Romano, S.; Maffei, P.; Bettini, V.; Milan, G.; Favaretto, F.; Gardiman, M.; Marshall, J.D.; Greggio, N.A.; Pozzan, G.B.; Collin, G.B.; Naggert, J.K.; Bronson, R.; Vettor, R.

    2013-01-01

    Introduction Alström Syndrome (ALMS) is a rare autosomal recessive monogenic disease included in an emerging class of genetic disorders called ‘ciliopathies’ and is likely to impact the central nervous system as well as metabolic and endocrine function. Individuals with ALMS present clinical features resembling a growth hormone deficiency (GHD) condition, but thusfar no study has specifically investigated this aspect in a large population. Material and Methods Twenty-three ALMS patients (age 1-52 years, 11 M, 12 F) were evaluated for anthropometric parameters (growth charts and Standard Deviation Score (SDS) of height, weight, BMI), GH secretion by growth-hormone-releasing-hormone + arginine test (GHRH-arg), bone age, and hypothalamic-pituitary magnetic resonance imaging (MRI). A group of 17 healthy subjects served as controls in the GH secretion study. Longitudinal retrospective and prospective data were utilized. Results The length-for-age measurements from birth to 36 months showed normal growth with most values falling within -0,67 SDS to +1.28 SDS. A progressive decrease of stature-for-age was observed after 10 years of age, with a low final height in almost all ALMS subjects (> 16-20 years: mean SDS -2.22±1.16). The subset of 12 ALMS patients tested for GHRH-arg showed a significantly shorter stature than age-matched controls (154.7±10.6 cm vs 162.9±4.8 cm, p= 0.009), and a mild increase of BMI (Kg/m2) (27.8±4.8 vs 24.1±2.5, p=0.007). Peak GH after GHRH-arg was significantly lower in ALMS patients in comparison to controls (11.9±6.9 ug/L vs 86.1±33.2 ug/L, p <0,0001). Severe GHD was evident biochemically in 50% of ALMS patients. The 10 adult ALMS patients with GHD showed a reduced height in comparison to those without GHD (149.7±6.2 cm vs 161.9±9.2 cm, p= 0.04). MRIs of the diencephalic and pituitary regions were normal in 11 of 12 patients. Bone age was advanced in 43% of cases. Conclusions Our study shows that 50% of non-obese ALMS patients have an inadequate GH reserve to GHRH-arg and may be functionally GH deficient. The short stature reported in ALMS may be at least partially influenced by impairment of GH secretion. PMID:23445176

  20. MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans

    PubMed Central

    Hughes, Claire R.; Guasti, Leonardo; Meimaridou, Eirini; Chuang, Chen-Hua; Schimenti, John C.; King, Peter J.; Costigan, Colm; Clark, Adrian J.L.; Metherell, Louise A.

    2012-01-01

    An interesting variant of familial glucocorticoid deficiency (FGD), an autosomal recessive form of adrenal failure, exists in a genetically isolated Irish population. In addition to hypocortisolemia, affected children show signs of growth failure, increased chromosomal breakage, and NK cell deficiency. Targeted exome sequencing in 8 patients identified a variant (c.71-1insG) in minichromosome maintenance–deficient 4 (MCM4) that was predicted to result in a severely truncated protein (p.Pro24ArgfsX4). Western blotting of patient samples revealed that the major 96-kDa isoform present in unaffected human controls was absent, while the presence of the minor 85-kDa isoform was preserved. Interestingly, histological studies with Mcm4-depleted mice showed grossly abnormal adrenal morphology that was characterized by non-steroidogenic GATA4- and Gli1-positive cells within the steroidogenic cortex, which reduced the number of steroidogenic cells in the zona fasciculata of the adrenal cortex. Since MCM4 is one part of a MCM2-7 complex recently confirmed as the replicative helicase essential for normal DNA replication and genome stability in all eukaryotes, it is possible that our patients may have an increased risk of neoplastic change. In summary, we have identified what we believe to be the first human mutation in MCM4 and have shown that it is associated with adrenal insufficiency, short stature, and NK cell deficiency. PMID:22354170

  1. 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

  2. How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?

    PubMed

    Ravel, Aimé; Chouery, Eliane; Stora, Samantha; Jalkh, Nadine; Villard, Laurent; Temtamy, Samia; Mégarbané, André

    2011-04-01

    We describe a French young man with digital anomalies consisting of brachydactyly, F1-5 bilateral camptodactyly, interdigital webbing, F5 bilateral radial clinodactyly, and partial syndactyly of some fingers and toes. He had psychomotor retardation, short stature, umbilical hernia, a secundum atrial septal defect, seizures, hearing impairment, and dysmorphic features consisting of microcephaly, a prominent metopic ridge, upslanting palpebral fissures, synophrys, enophthalmia, large ears, a bulbous nose, a high palate, a smooth and short philtrum, a low hanging columella, a thin upper vermillion, an everted lower lip, prognathism, pectum excavatum, and supernumerary nipples. Osteotendinous reflexes were brisk. Mild nystagmus, myopia, and astigmatia were also noted. Total body X-rays showed short terminal phalanges of the hands, short middle phalanges of the index and little fingers, clinodactyly of the little fingers, short and fused proximal 4th and 5th metacarpals of the right hand, a short 5th metacarpal of the left hand, a fused left lunate-triquetrum, fused capitate-hamates, a prominent mandibula, and partial sacral agenesis. A thin posterior corpus callosum was apparent by MRI. Differential diagnoses for mainly the Rubinstein-Taybi syndrome, the Tsukahara syndrome, the Filippi syndrome, the Feingold syndrome, and the Tonoki syndrome are discussed, and the possibility that we might be reporting a novel entity is raised. © 2011 Wiley-Liss, Inc. PMID:21416592

  3. A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion

    PubMed Central

    Franco, Luis M; de Ravel, Thomy; Graham, Brett H; Frenkel, Stephanie M; Van Driessche, Jozef; Stankiewicz, Pawel; Lupski, James R; Vermeesch, Joris R; Cheung, Sau Wai

    2010-01-01

    Genomic rearrangements are an increasingly recognized mechanism of human phenotypic variation and susceptibility to disease. Sotos syndrome is characterized by overgrowth, macrocephaly, developmental delay and advanced osseous maturation. Haploinsufficiency of NSD1, caused by inactivating point mutations or deletion copy number variants, is the only known cause of Sotos syndrome. A recurrent 2?Mb deletion has been described with variable frequency in different populations. In this study, we report two individuals of different ethnic and geographical backgrounds, with duplications reciprocal to the common Sotos syndrome deletion. Our findings provide evidence for the existence of a novel syndrome of short stature, microcephaly, delayed bone development, speech delay and mild or absent facial dysmorphism. The phenotype is remarkably opposite to that of Sotos syndrome, suggesting a role for NSD1 in the regulation of somatic growth in humans. PMID:19844260

  4. Lack of expression of XIST from a small ring X chromosome containing the XIST locus in a girl with short stature, facial dysmorphism and developmental delay

    Microsoft Academic Search

    Darrell J Tomkins; Helen L McDonald; Sandra A Farrell; Carolyn J Brown

    2002-01-01

    A 46,X,r(X) karyotype was found in a three and a half year old girl with short stature, facial dysmorphism and developmental delay. The clinical findings were consistent with the phenotype described in a limited number of patients with small ring X chromosomes lacking the XIST locus, a critical player in the process of X chromosome inactivation. Surprisingly, in our patient,

  5. 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

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

    PubMed

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

    2012-01-01

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

  7. 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

  8. Short-term, high-dose testosterone treatment fails to reduce adult height in boys with constitutional tall stature

    Microsoft Academic Search

    M. Bettendorf; U. E. Heinrich; D. K. Schönberg; J. Grulich-Henn

    1997-01-01

    Height predictions based on three different methods (Bayley-Pinneau [BP], Tanner-Whitehouse Mark II [TW II], Roche-Wainer-Thissen\\u000a [RWT]) were compared to adult heights in 19 males with constitutional tall stature previously treated with high-dose testosterone\\u000a oenanthate for 6 months (group A) and 25 untreated tall males (group B). Their chronological ages (CA) at the initial evaluation\\u000a of tall stature ranged from 12.1

  9. Can life history trade-offs explain the evolution of short stature in human pygmies? A response to Migliano et al. (2007).

    PubMed

    Becker, Noémie S A; Verdu, Paul; Hewlett, Barry; Pavard, Samuel

    2010-02-01

    Walker et al. ["Growth rates and life histories in twenty-two small-scale societies," Am. J. Hum. Biol. 18:295-311 (2006)] used life history theory to develop an innovative explanation for human diversity in stature. Short stature could have been selected for in some human populations as a result of the advantage of an earlier growth cessation and earlier reproduction in a context of high mortality. Migliano et al. ["Life history trade-offs explain the evolution of human pygmies," Proc. Natl. Acad. Sci. USA 104:20,216-20,219 (2007)] recently published an important article that tested this hypothesis to explain short stature in human pygmy populations. However innovative this work may be, we believe that some of the data and results presented are controversial if not questionable. As problematic points we note (1) the use of an arbitrary threshold of height (155 cm) to categorize populations into pygmies and nonpygmies; (2) the use of demographic data from Philippine pygmy groups that have experienced dramatic cultural and environmental changes in the last 20 years, and (3) the use of demographic data concerning African pygmy groups because good systematic data on these groups are not available. Finally, we report here mathematical errors and loopholes in the optimization model developed by Migliano and colleagues. In this paper we suggest alternative trade-offs that can be used to explain Migliano's results on more reliable bases. PMID:20504169

  10. Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia.

    PubMed

    Stankiewicz, Pawe?; Thiele, Hannelore; Schlicker, Mike; Cseke-Friedrich, Andrea; Bartel-Friedrich, Sylva; Yatsenko, Svetlana A; Lupski, James R; Hansmann, Ingo

    2005-09-15

    Duplications of the distal long arm of the X chromosome are rare and carrier females are usually phenotypically normal. We report on a 14-year-old short statured (height and weight <3rd centile) girl with dup(X)(q26.2q27.1) inherited from a short mother. The proband has minor dysmorphic features, lordosis, lack of menarche, late signs of puberty, low prepuberal levels of gonadotrophins and steroids, but borderline low IGF-1 and normal IGF-Bp3 serum levels. Both the proposita and her mother have severe speech problems with stuttering and dyslalia. The 44-year-old mother with a strikingly aged face and a prominent nose, had menarche at 15 years. Both maternal sisters and the grandmother of the proposita are also short. Karyotyping revealed an additional band at Xq26 in all metaphases from the proband, her mother, and two maternal aunts. Molecular cytogenetic investigations revealed an Xq26.2-q27.1 direct duplication of approximately 7.5 Mb that encompasses or disrupts the SOX3 gene, which maps at the distal border of the duplicated segment. A similar chromosomal duplication was reported recently in five families and in each was associated with an abnormal phenotype in males with short stature [Hol et al., 2000; Solomon et al., 2002, 2004]. Using an androgen-receptor (HUMARA) gene methylation assay and FISH, we show that despite preferential inactivation of the dup(Xq) chromosome a significant proportion of lymphocytes in both mother and daughter carry an active duplicated X chromosome. Our findings further suggest that a dosage effect of SOX3 may to be responsible for a speech disorder in addition to short stature secondary to hypopituitarism. PMID:16097007

  11. Hypotonia

    MedlinePLUS

    ... Physical therapy can improve motor control and overall body strength. Occupational therapy can help relearn ways to address activities of daily living. Speech-language therapy can help breathing, speech, and swallowing difficulties. ...

  12. Hypotonia

    MedlinePLUS

    ... disorders, in which the body cannot properly turn food into energy Infections Genetic or chromosomal disorders, or ... The hypotonic (floppy) infant). In: Daroff RB, Fenichel GM, Jankovic J, Mazziotta JC, eds. Bradley's Neurology in ...

  13. 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. [Mafraq Hospital, Abu Dhabi (United Arab Emirates)

    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.

  14. 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

  15. Stature is an essential predictor of muscle strength in children

    E-print Network

    Paris-Sud XI, Université de

    Stature is an essential predictor of muscle strength in children Hogrel et al. Hogrel et al. BMC Access Stature is an essential predictor of muscle strength in children Jean-Yves Hogrel1* , Valérie and Dominique Simon5 Abstract Background: Children with growth retardation or short stature generally present

  16. Digital and dental malformation and short stature in a patient with neurological problems: a variant of the oculodentodigital dysplasia syndrome or a new syndrome?

    PubMed

    Shakiba, Marjan; Nezhad Bieglari, Habibe; Alaee, Mohammad Reza

    2012-01-01

    Several syndromes have been recognized with digital abnormality and CNS involvement such as oculodentodigital dysplasia (ODDD), Mohr syndrome and Joubert syndrome. We report a patient who was referred to us because of the neurological signs suspicious of metabolic disorders. This case was a 22-year-old woman whose problems began 4 years ago with shortening of memory, ataxia, abnormal gait and diplopia which progressed slowly. She consulted many neurologists and was on treatment with the suspicion of vasculitis, but no response was detected. She had severe short stature, hypoplasia of the middle and distal phalanges of the first, second and third fingers, clinodactyly, abnormal toes, abnormal enamel and missing teeth. She had no characteristic faces of ODDD and ophthalmological abnormality. Our patient might be a variant of ODDD or a new syndrome with somatic and neurologic signs. PMID:24665281

  17. Digital and Dental Malformation and Short Stature in a Patient with Neurological Problems: A Variant of the Oculodentodigital Dysplasia Syndrome or a New Syndrome?

    PubMed Central

    SHAKIBA, Marjan; NEZHAD BIEGLARI, Habibe; ALAEE, Mohammad Reza

    2012-01-01

    Several syndromes have been recognized with digital abnormality and CNS involvement such as oculodentodigital dysplasia (ODDD), Mohr syndrome and Joubert syndrome. We report a patient who was referred to us because of the neurological signs suspicious of metabolic disorders. This case was a 22-year-old woman whose problems began 4 years ago with shortening of memory, ataxia, abnormal gait and diplopia which progressed slowly. She consulted many neurologists and was on treatment with the suspicion of vasculitis, but no response was detected. She had severe short stature, hypoplasia of the middle and distal phalanges of the first, second and third fingers, clinodactyly, abnormal toes, abnormal enamel and missing teeth. She had no characteristic faces of ODDD and ophthalmological abnormality. Our patient might be a variant of ODDD or a new syndrome with somatic and neurologic signs. PMID:24665281

  18. Food Intake of Children with Short Stature Born Small for Gestational Age before and during a Randomized GH Trial

    Microsoft Academic Search

    V. H. Boonstra; N. J. T. Arends; T. Stijnen; W. F. Blum; O. Akkerman; A. C. S. Hokken-Koelega

    2006-01-01

    Parents of short children born SGA often report that their children have a serious lack of appetite and a low food intake. In this study we investigated food intake, by using a standardized 7-day food questionnaire, in 88 short SGA children before start of GH treatment. The intake was compared with the recommended daily intake (RDI) of age-matched children. We

  19. 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. (Jefferson Medical College, Philadelphia, PA (United States))

    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.

  20. 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

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

    Microsoft Academic Search

    Rinie Geenen; Gerdine A Kamp; Jaap Huisman; Jan M Wit; Gerben Sinnema

    2005-01-01

    BACKGROUND: Growth-enhancing hormone treatment is considered a possible intervention in short but otherwise healthy adolescents. Although height gain is an obvious measure for evaluating hormone treatment, this may not be the ultimate goal for the person, but rather a means to reach other goals such as the amelioration of current height-related psychosocial problems or the enhancement of future prospects in

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

    PubMed

    Hemmat, Morteza; Rumple, Melissa J; Mahon, Loretta W; Strom, Charles M; Anguiano, Arturo; Talai, Maryam; Nguyen, Bryant; Boyar, Fatih Z

    2014-01-01

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

  3. Evaluation of growth hormone release and human growth hormone treatment in children with cranial irradiation-associated short stature

    SciTech Connect

    Romshe, C.A.; Zipf, W.B.; Miser, A.; Miser, J.; Sotos, J.F.; Newton, W.A.

    1984-02-01

    We studied nine children who had received cranial irradiation for various malignancies and subsequently experienced decreased growth velocity. Their response to standard growth hormone stimulation and release tests were compared with that in seven children with classic GH deficiency and in 24 short normal control subjects. With arginine and L-dopa stimulation, six of nine patients who received radiation had a normal GH response (greater than 7 ng/ml), whereas by design none of the GH deficient and all of the normal children had a positive response. Only two of nine patients had a normal response to insulin hypoglycemia, with no significant differences in the mean maximal response of the radiation and the GH-deficient groups. Pulsatile secretion was not significantly different in the radiation and GH-deficient groups, but was different in the radiation and normal groups. All subjects in the GH-deficient and radiation groups were given human growth hormone for 1 year. Growth velocity increased in all, with no significant difference in the response of the two groups when comparing the z scores for growth velocity of each subject's bone age. We recommend a 6-month trial of hGH in children who have had cranial radiation and are in prolonged remission with a decreased growth velocity, as there is no completely reliable combination of GH stimulation or release tests to determine their response.

  4. JAMA Patient Page: Short Stature

    MedlinePLUS

    ... measurement Growth chart Author: Laurie E. Cohen, MD Conflict of Interest Disclosures: The author has completed and submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest and reported serving as an independent data and ...

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

    PubMed Central

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

    2013-01-01

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

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

    SciTech Connect

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

    1994-07-15

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

  7. Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s)

    PubMed Central

    Ogata, Tsutomu; Yoshizawa, Atsuko; Muroya, Koji; Matsuo, Nobutake; Fukushima, Yoshimitsu; Rappold, Gudrun; Yokoya, Susumu

    1995-01-01

    This report describes a 12 year 10 month old girl with short stature and a non-mosaic 46,X,Xp+ karyotype. Her height remained below ?2 SD of the mean, and her predicted adult height (143 cm) was below her target height (155·5 cm) and target range (147·5 cm?163·5 cm). Cytogenetic and molecular studies showed that the Xp+ chromosome was formed by an inverted duplication of the Xp21.3?Xp22.33 segment and was missing about 700 kb of DNA from the pseudoautosomal region distal to DXYS15. The results provide further support for the previously proposed hypothesis that the region between DXYS20 and DXYS15 is the critical region for a pseudoautosomal growth gene(s). Images PMID:8558568

  8. Attention and recognition biases associated with stature dissatisfaction among young men in China.

    PubMed

    Liu, Jie; Chen, Hong; Gao, Xiao; Meng, Rui; Jackson, Todd

    2014-09-01

    This research evaluated information-processing biases related to height dissatisfaction among young Chinese men. In Study 1, 32 highly stature dissatisfied (HSD) men and 36 less stature dissatisfied (LSD) men performed a dot probe task featuring height-related words and neutral words. HSD men were significantly slower than LSD men were in responding to probes that followed short stature words, but the groups did not differ in response speeds to probes that followed tall stature or neutral words. In Study 2, 33 HSD men and 34 LSD men completed an implicit learning task followed by a word recognition task. HSD men recognized significantly more short stature words from the initial task, but recognition accuracy for other word types did not differ between groups. Together, these findings suggest that HSD men are more inclined than LSD men to selectively avoid cues that reflect shortness in stature and to selectively recognize such cues later. PMID:25241032

  9. Deletion of Prepl Causes Growth Impairment and Hypotonia in Mice

    PubMed Central

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

    2014-01-01

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

  10. The allometry of metabolism and stature: worker fatigue and height in the Tanzanian labor market.

    PubMed

    Price, Gregory N

    2013-12-01

    If the positive wage-height correlation is at least partially biological in origin, one plausible pathway is the effect of stature on energy expenditure in individuals. If metabolism scales proportionately with stature, then relative to short individuals, taller individuals can produce more energy for a given work task. This also suggests that end-of-the-workday fatigue, or lack of energy, varies inversely with stature. We test this hypothesis with data from the 2004 Tanzanian Household Worker Survey in which workers report the extent of their fatigue at the end-of-the-workday. Ordinal latent variable parameter estimates reveal that relative to short workers, taller workers are less likely to report being tired at the end-of-the-workday. This suggests that the positive wage-height relationship also has a biological foundation whereby the energy requirements and metabolic costs associated with work effort/tasks are inversely related to stature. PMID:24004688

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

    SciTech Connect

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

    1996-12-30

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

  12. Stature in Holocene foragers of North India.

    PubMed

    Lukacs, John R; Pal, J N; Nelson, Greg C

    2014-03-01

    The Ganga Plain of North India provides an archaeological and skeletal record of semi-nomadic Holocene foragers in association with an aceramic Mesolithic culture. Prior estimates of stature for Mesolithic Lake Cultures (MLC) used inappropriate equations from an American White reference group and need revision. Attention is given to intralimb body proportions and geo-climatic provenance of MLC series in considering the most suitable reference population. Regression equations from ancient Egyptians are used in reconstructing stature for MLC skeletal series from Damdama (DDM), Mahadaha (MDH), and Sarai Nahar Rai (SNR). Mean stature is estimated at between 174 (MDH) and 178 cm (DDM and SNR) for males, and between 163 cm (MDH) and 179 cm (SNR) for females. Stature estimates based on ancient Egyptian equations are significantly shorter (from 3.5 to 7.1 cm shorter in males; from 3.2 to 7.5 cm shorter in females) than estimates using the American White reference group. Revised stature estimates from tibia length and from femur?+?tibia more accurately estimate MLC stature for two reasons: a) these elements are highly correlated with stature and have lower standard estimates of error, and b) uncertainty regarding methods of measuring tibia length is avoided. When compared with Holocene samples of native Americans and Mesolithic Europeans, MLC series from North India are tall. This aspect of their biological variation confirms earlier assessments and results from the synergistic influence of balanced nutrition from broad-spectrum foraging, body-proportions adapted to a seasonally hot and arid climate, and the functional demands of a mobile, semi-nomadic life-style. PMID:24374782

  13. 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

  14. Added Centimetres and Their Repercussions: How effective and safe is growth hormone in the treatment of short stature in girls with Turner syndrome and in children born small for gestational age?

    Microsoft Academic Search

    Pareren van Y. K

    2006-01-01

    The most common clinical characteristic of Turner syndrome (TS) is short \\u000astature. Although girls with TS are not growth hormone (GH) deficient, \\u000astudies show that long-term GH treatment in TS leads to normalisation of \\u000aheight during childhood. In this chapter the results and conclusions are \\u000asummarised of the multi-centre randomised dose-response growth hormone \\u000a(GH) trial evaluating the efficacy, safety and

  15. 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…

  16. Physical Stature and its Interpretation in Nineteenth Century New Zealand

    E-print Network

    Hickman, Mark

    1 Physical Stature and its Interpretation in Nineteenth Century New Zealand by Kris Inwood, Les interpretation in nineteenth century New Zealand 24 December 2008 Kris Inwood1 Les Oxley2 Evan Roberts3 Abstract: During the late nineteenth century the physical stature of New Zealand- born men stagnated, despite

  17. Short Communication Stature of Juvenile Trees in Response to

    E-print Network

    Howe, Henry F.

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

  18. 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

  19. [Transplacental or breast milk intoxication to clonidine: a case of neonatal hypotonia and drowsiness].

    PubMed

    Sevrez, C; Lavocat, M-P; Mounier, G; Elefant, E; Magnin, S; Teyssier, G; Patural, H

    2014-02-01

    We report a case of clonidine poisoning in a breastfed newborn. At 2 days of life, this boy presented a consciousness deficit with drowsiness, hypotonia, and suspected generalized seizures. There were no cardiorespiratory problems outside of progressive central apneas beginning the 5th day. Further initial investigations were normal (extensive biological exams, cranial ultrasonography and transfontanellar Doppler, electroencephalography, and brain MRI study), excluding the main causes of neonatal hypotonia (encephalitis, infection, metabolic disorder). However, new medical questioning revealed maternal daily intake of 0.15 mg clonidine for hypertension during and after pregnancy. Since it was impossible to quantify clonidine quantification in newborn serum and breast milk, a weaning test was performed the 9th day. Twenty-four hours after cessation of breastfeeding, complete regression of symptoms was obtained. Poisoning by clonidine after fetal and neonatal exposure through breast milk is rare but severe enough to simulate a neurological disease. Diagnosis is based on the search for drug use and the cessation of breastfeeding if doubt persists. Recovery of normal examination results is then rapid and complete. PMID:24411570

  20. Forensic anthropology casework-essential methodological considerations in stature estimation.

    PubMed

    Krishan, Kewal; Kanchan, Tanuj; Menezes, Ritesh G; Ghosh, Abhik

    2012-03-01

    The examination of skeletal remains is a challenge to the medical examiner's/coroner's office and the forensic anthropologist conducting the investigation. One of the objectives of the medico-legal investigation is to estimate stature or height from various skeletal remains and body parts brought for examination. Various skeletal remains and body parts bear a positive and linear correlation with stature and have been successfully used for stature estimation. This concept is utilized in estimation of stature in forensic anthropology casework in mass disasters and other forensic examinations. Scientists have long been involved in standardizing the anthropological data with respect to various populations of the world. This review deals with some essential methodological issues that need to be addressed in research related to estimation of stature in forensic examinations. These issues have direct relevance in the identification of commingled or unknown remains and therefore it is essential that forensic nurses are familiar with the theories and techniques used in forensic anthropology. PMID:22372398

  1. Stature recovery after sitting on land and in water.

    PubMed

    Camilotti, Bárbara Maria; Rodacki, André L F; Israel, Vera Lúcia; Fowler, Neil E

    2009-12-01

    Back pain treatment in water has been commonly used although there is little evidence about its effects. One purported advantage for exercise is the reduced loading due to the buoyant force. The purpose of this study was to compare stature change, as a marker of spinal loading, after sitting in aquatic and dry land environments. Fourteen asymptomatic volunteers had their stature measured in a precision stadiometer, before and after a bout of physical activity and during a recovery period either sitting in water (head out of water immersion; HOWI) and sitting in a chair on land (SITT). Stature loss following exercise was as expected similar in both groups (SITT=89.2+/-5.4% and HOWI=86.5+/-8.1%; p=0.33). When stature recovery was compared between the water and land environments, HOWI (102.2+/-8.7%) showed greater recovery than SITT (86.5+/-6.3%) after 30 min (p<0.05). These results suggest that HOWI facilitated more rapid stature recovery through lower spinal loading and supports use of this technique to reduce spinal loading during recovery. PMID:19467912

  2. Stature estimation from craniofacial anthropometry in Bangladeshi Garo adult females.

    PubMed

    Akhter, Z; Banu, L A; Alam, M M; Rahman, M F

    2012-07-01

    Estimation of stature is an important tool in forensic examination especially in unknown, highly decomposed, fragmentary and mutilated human remains. When the evidences are skeletal remains; forensic anthropology has put forward means to estimate the stature from the skeletal and even from fragmentary bones. Sometimes, craniofacial remains are brought in for forensic and postmortem examination. In such a situation, estimation of stature becomes equally important along with other parameters like age, sex, race, etc. Today, anthropometry plays an important role in industrial design, clothing design, ergonomics and architecture where statistical data about the distribution of body dimensions in the population are used to optimize products. It is well established that a single standard of craniofacial aesthetics is not appropriate for application to diverse racial and ethnic groups. Bangladesh is a country not only for the Bengalis; the country harbours many cultures and people of different races because of the colonial rules of the past regimes. Like other ethnic groups, the Garos (study subjects) have their own set of language, social structure, cultures and economic activities and religious values. In the above context, the present study was attempted to establish ethnic specific anthropometric data for the Bangladeshi Garo adult females. The study also attempted to find out the correlation of the craniofacial dimensions with stature and to determine multiplication factors. The study was an observational, cross-sectional and primarily descriptive in nature with some analytical components. The study was carried out with a total number of one hundred Garo adult females, aged between 25-45 years. Craniofacial dimension such as head circumference, head length, facial height from 'nasion' to 'gnathion', bizygomatic breadth and stature were measured using a measuring tape, spreading caliper, steel plate and steel tape and sliding caliper. The data were then statistically analyzed by computation to find out its normatic value. Study was also aimed to observe the possible correlation of them with the stature. Multiplication factors were estimated for estimating stature and comparison were made between 'estimated' values with the 'measured' values by using 't' test. The mean±SD of the head length, head circumference, facial height from 'nasion' to 'gnathion', bizygomatic breadth were 17.49±0.58cm, 51.56±1.49cm, 10.65±0.40cm, 13.47±0.52cm respectively and The mean±SD of the stature was 152.79±5.62cm. Head circumference showed significant positive correlation with stature (r=0.278 and p= 0.005) but head length (r= -0.029 and p=0.774), bizygomatic breadth (r= 0.143 & p=0.156) and facial height from 'nasion' to 'gnathion' (r=00.023 and p=0.818) did not reach statistically significant level with stature. No significant difference was found between the 'measured' and 'estimated' stature for head circumference, head length, bizygomatic breadth and facial height from 'nasion' to 'gnathion'. PMID:22828547

  3. Coffin Lowry Syndrome

    MedlinePLUS

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

  4. Evolutionary trends of stature in upper Paleolithic and Mesolithic Europe.

    PubMed

    Formicola, V; Giannecchini, M

    1999-03-01

    Long bone lengths of all available European Upper Paleolithic (41 males, 25 females) and Mesolithic (171 males, 118 females) remains have been transformed into stature estimates by means of new regression equations derived from Early Holocene skeletal samples using "Fully's anatomical stature" and the major axis regression technique (Formicola & Franceschi, 1996). Statistical analysis of the data, with reference both to time and space parameters, indicates that: (1) Early Upper Paleolithic samples (pre-Glacial Maximum) are very tall; (2) Late Upper Paleolithic groups (post-Glacial Maximum) from Western Europe, compared to their ancestors, show a marked decrease in height; (3) a further, although not significant, reduction of stature affects Western Mesolithics; (4) no regional differences have been observed during both phases of the Upper Paleolithic; (5) a high level of homogeneity has also been found in the Mesolithic, both in Western and Eastern Europe; (6) the internal homogeneity found during the Mesolithic in Western and Eastern Europe is associated with marked inter-regional variability, with populations of the latter region showing systematically significantly greater stature than their Western contemporaries. Evaluation of possible causes for the great stature of the Early Upper Paleolithic samples points to high nutritional standards as the most important factor. Results obtained on later groups clearly indicate that the Last Glacial Maximum, rather than the Mesolithic transition, is the critical phase in the negative trend affecting Western European populations. While changes in the quality of the diet, and in particular decreased protein intake, provide a likely explanation for that trend, variations in levels of gene flow probably also played a role. Reasons for the West-East Mesolithic dichotomy remain unclear and lack of information for the Late Upper Paleolithic of Eastern Europe prevents insight into the remote origins of this phenomenon. Analysis of regional differentiation of stature, particularly well supported by data from Mesolithic sites, points to the absence of today's latitudinal gradients and suggests a relative homogeneity in dietary, cultural and biodemographic patterns for the last hunter-gatherer populations of Western Europe. PMID:10074386

  5. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.

    PubMed

    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

    2014-11-01

    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

  6. 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 18-24years, were measured according to standard anthropometric procedures. The data were statistically analyzed using independent t-test for sex and bilateral differences. Pearson correlation coefficient was used for assessing relationship between stature and hand/foot parameters, and subsequently linear regression analysis was used to estimate stature. The results revealed significant sex differences in hand and foot dimensions as well as in stature (p<0.05). There was a positive and statistically significant correlation between stature and all measurements in both sexes (p<0.01). The highest correlation coefficient was found for foot length in males (r=0.71) as well as in females (r=0.63). Regression equations were computed separately for each sex. The accuracy of stature prediction ranged from ±4.6 to ±6.1cm. The results of this study indicate that hand and foot dimension can be used to estimate stature for Slovak for the purpose of forensic field. The regression equations can be of use for stature estimation particularly in cases of dismembered bodies. PMID:25459368

  7. Chromosomal microarray analysis of functional Xq27-qter disomy and deletion 3p26.3 in a boy with Prader-Willi like features and hypotonia.

    PubMed

    Ben-Abdallah-Bouhjar, Inesse; Hannachi, Hanene; Labalme, Audrey; Gmidčne, Abir; Mougou, Soumaya; Soyah, Najla; Gribaa, Moez; Sanlaville, Damien; Elghezal, Hatem; Saad, Ali

    2012-01-01

    Duplications of the long arm of the X chromosome are rare. The infantile phenotype shares some resemblance with the Prader-Willi syndrome, presenting severe psychomotor retardation, facial dysmorphic features with a broad face, a small mouth and a thin pointed nose, hypotonia, urogenital malformation and proneness to infections. We report a boy with an additional Xq27-qter chromosome segment translocated onto the short arm of chromosome 3. The karyotype was 46,XY,der(3)t(X;3)(q27.3; p26.3)mat. This cryptic unbalanced X-autosome translocation resulted in Xq27-qter functional disomy and a deletion 3p26.3. A detailed analysis of the constitutional chromosomal changes in the patient was performed using array-CGH, FISH and PCR. The aim was to characterize the size and the location of the duplication Xq27-qter (8.18 Mb) and of the deletion 3p26.3 (1.05 Mb), to establish phenotype-genotype correlations and to offer genetic counselling. PMID:22683462

  8. Demographic, residential, and socioeconomic effects on the distribution of nineteenth-century African-American stature

    Microsoft Academic Search

    Scott Alan Carson

    2008-01-01

    Nineteenth-century mulattos were taller than their darker-colored African-American counterparts. However, traditional explanations\\u000a that attribute the mulatto stature advantage to only socioeconomic factors are yet to tie taller mulatto statures to observable\\u000a phenomenon. Vitamin D production may also explain part of the nineteenth-century mulatto–black stature differential. Mulattos\\u000a were taller than darker-pigmented blacks across the stature distribution, and higher melanin concentrations in

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

    PubMed Central

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

    2011-01-01

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

  10. Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.

    PubMed

    Al-Sayed, Moeenaldeen D; Al-Zaidan, Hamad; Albakheet, Albandary; Hakami, Hana; Kenana, Rosan; Al-Yafee, Yusra; Al-Dosary, Mazhor; Qari, Alya; Al-Sheddi, Tarfa; Al-Muheiza, Muhammed; Al-Qubbaj, Wafa; Lakmache, Yamina; Al-Hindi, Hindi; Ghaziuddin, Muhammad; Colak, Dilek; Kaya, Namik

    2013-10-01

    Sodium leak channel, nonselective (NALCN) is a voltage-independent and cation-nonselective channel that is mainly responsible for the leaky sodium transport across neuronal membranes and controls neuronal excitability. Although NALCN variants have been conflictingly reported to be in linkage disequilibrium with schizophrenia and bipolar disorder, to our knowledge, no mutations have been reported to date for any inherited disorders. Using linkage, SNP-based homozygosity mapping, targeted sequencing, and confirmatory exome sequencing, we identified two mutations, one missense and one nonsense, in NALCN in two unrelated families. The mutations cause an autosomal-recessive syndrome characterized by subtle facial dysmorphism, variable degrees of hypotonia, speech impairment, chronic constipation, and intellectual disability. Furthermore, one of the families pursued preimplantation genetic diagnosis on the basis of the results from this study, and the mother recently delivered healthy twins, a boy and a girl, with no symptoms of hypotonia, which was present in all the affected children at birth. Hence, the two families we describe here represent instances of loss of function in human NALCN. PMID:24075186

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

    Microsoft Academic Search

    Scott Alan Carson

    2009-01-01

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

  12. Secular trend in stature and age at menarche among Punjabi Aroras residing in New Delhi, India.

    PubMed

    Khanna, Geeta; Kapoor, Satwanti

    2004-12-01

    The study was conducted on Punjabi Arora girls (n = 159) and their mothers to see the phenomenon of secular trend in stature and age at menarche. An increase in stature and decrease in age at menarche was reported when the data of daughters was compared with that of their mothers thereby indicating secular trend in these two parameters. Better living conditions, improved nutrition and medical facilities, changes in environmental and socio-economic factors may account for increase in stature and early biological maturation. PMID:15666587

  13. 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…

  14. An Ethics Primer: A Few Short Ethics Cases

    NSDL National Science Digital Library

    2008-01-01

    This resource is a PDF that provides teachers with several short ethics case studies: Two Tales of Rice (genetically modified food), Talk About Short (growth hormone for short stature -- fictionalized), and One Family's Dilemma (a family considers what to do about excess IVF embryos).

  15. Tics and Shorter Stature: Should We Be Looking for an Association?

    PubMed Central

    Holleb, Peter; Rabin, Marcie; Kurlan, Roger

    2014-01-01

    Background Tic disorders have commonly occurring and well recognized comorbidities including obsessive-compulsive disorder (OCD) and attention deficit hyperactivity disorder (ADHD). Shorter stature is not generally appreciated as an associated feature. Methods Case reports and a literature review. Results We describe four recently encountered patients with tics and shorter stature. The literature suggests that in addition to OCD and ADHD, shorter stature may also commonly accompany tic disorders. A variety of neuroendocrine mechanisms have been proposed. Discussion The potential associations between shorter stature and tic disorders and the common comorbidities OCD and ADHD deserve more attention. More research is needed to establish the strength of these associations and the underlying neurobiological mechanisms. PMID:25429352

  16. 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

  17. Stature estimation in Japanese cadavers based on the second cervical vertebra measured 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

    2015-05-01

    The purpose of this study was to assess correlations between measurements of the second cervical vertebra (C2) and stature using multidetector computed tomography (MDCT) images, and to develop regression equations for estimating stature in a Japanese population. Measurements were performed on 216 Japanese subjects (116 males and 100 females) who underwent postmortem CT between May 2011 and November 2013. Sagittal images through the center of the C2 were used for assessment. The length from the top of the dens to the anteroinferior point of the vertebral body (DA), the length from the anteroinferior point of the vertebral body to the posterior point of the spinous process (AS), and the length from the top of the dens to the posterior point of the spinous process (DS) were measured. The correlation between stature and each parameter (DA, AS, and DS) was assessed using Pearson product-moment correlation coefficients and regression analysis was performed for stature estimation. All measurements of the C2 were positively correlated with stature regardless of sex. The highest correlation was observed for the DA in all cases, and the lowest correlation was observed for AS in all cases. However, the standard errors of estimate were large. Thus, our study concludes that the size of the C2 as measured with MDCT images may be useful for stature estimation only when better predictors, such as long bones, are unavailable. PMID:25466453

  18. An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities.

    PubMed

    Yamamoto, Toshiyuki; Wilsdon, Anna; Joss, Shelagh; Isidor, Bertrand; Erlandsson, Anna; Suri, Mohnish; Sangu, Noriko; Shimada, Shino; Shimojima, Keiko; Le Caignec, Cédric; Samuelsson, Lena; Stefanova, Margarita

    2014-06-01

    The majority of Xq22 duplications seen in patients with Pelizaeus-Merzbacher disease (PMD) include proteolipid protein 1 (PLP1), the gene responsible for PMD, and neighboring genes. Some cases result from larger duplications up to 7?Mb in size. In comparison, the deletions including PLP1 seen in PMD patients are small. In this study, we present the genetic and clinical information for five female patients with deletions involving the Xq22 region, and review the correlation between the genotype and phenotype. Three of the five patients show similar large deletions (>3?Mb) ranging from Xq22.1 to Xq22.3 and all manifest severe intellectual disability, hypotonia and behavioral abnormalities. The most striking similarity among them are the behavioral problems, including poor eye contact and sleep disturbance. We propose that this represents an emerging distinctive microdeletion syndrome encompassing PLP1 in female patients. The possible candidate region responsible for such distinctive features has been narrowed down to the neighboring region for PLP1, including the interleukin 1 receptor accessory protein-like 2 (IL1RAPL2) gene and the clustered brain expressed X-linked (BEX) genes. The gene(s) responsible for severe neurological features in the patients in this study would be located in the regions proximate to PLP1; thus, males with the deletions involving the gene(s) would be lethal, and finally, the sizes of the deletions in PMD patients would be smaller than those of the duplications. PMID:24646727

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

    PubMed Central

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

    2014-01-01

    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

  20. Estimation of stature and sex from sternal lengths: an autopsy study.

    PubMed

    Yonguc, Goksin Nilufer; Kurtulus, Ayse; Bayazit, Onur; Adiguzel, Esat; Unal, Ilker; Demir, Sumeyra; Acar, Kemalettin

    2015-03-01

    The aim of this study was to derive regression equations for estimating stature and further to estimate sex from four measured sternal lengths. This study included intact sterna from 65 males and 30 females, aged between 25 and 40 years, obtained during medico-legal autopsies. Stature and four sternal lengths, length of the manubrium (LM), length of the body (LB), length of the manubrium and body (LMB) and total sternal length, of each cadaver were measured. Stature and all measured sternal lengths were greater in males compared to females (p < 0.001). All sternal lengths were positively correlated with stature in sexes. LMB had the highest correlation coefficient in both males and females (correlation coefficient: 0.721 and 0.740, respectively). In both sexes, linear regression analysis for stature estimation revealed equations with the highest R (2) values when derived from LMB (R (2) = 0.521 for males and R (2) = 0.547 for females). On the other hand, only the multiple linear regression equation derived from the combination of the LB and LMB had the higher R (2) value (R (2) = 0.640) for stature estimation in females. Receiver-operating curve analysis for all measurements was statistically significant (p < 0.05 for all). These findings suggested that measured sternal lengths can be used for estimation of sex. However, LB and LMB measurements were found to be the most reliable sternal lengths for estimating sex with an accuracy rate of 90 %. Our results revealed that the sternum is a useful tool for estimating stature and sex when other skeletal bones are not available. PMID:24748542

  1. Correlation of the hand length and stature in adult Musahar females of Nepal; an anthropometric study.

    PubMed

    Basnet, K S; Dhungel, S; Panta, P P

    2012-03-01

    Stature of a person is one of the most important and useful anthropometric parameter for establishing identification of unknown living or a dead person. A descriptive cross sectional study was done on 165 Nepalese adult Musahar females of Aurahi Village of Mahottari district, Nepal to predict the stature from their hand length. Measurement of stature and the length of both right and left hands taken with a standard standing height measuring instrument and a slide caliper respectively showed significant (p<0.001) positive correlation between the stature and hand lengths. The multiplication factor which was obtained by dividing the height of the subject by the respective hand lengths was found appropriate parameter to calculate the stature of a questioned person. The importance of the hand length alone will be of a great value for anthropologists and forensic experts. As an alternative method, the coefficient of regression and intercept which were obtained from the measured height and hand length were also proved to be equally valuable to estimate the height of a questioned person. PMID:23441496

  2. 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

  3. Assessment and treatment of short stature in pediatric patients with chronic kidney disease: a consensus statement

    Microsoft Academic Search

    John D. Mahan; Bradley A. Warady

    2006-01-01

    Growth failure is a clinically important issue in children with chronic kidney disease (CKD) and is associated with significant\\u000a morbidity and mortality. Many factors contribute to impaired growth in these children, including abnormalities in the growth\\u000a hormone (GH)–insulin-like growth factor-I (IGF-I) axis, malnutrition, acidosis, and renal bone disease. The management of\\u000a growth failure in children with CKD is complicated by

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

    PubMed

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

    2014-06-01

    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

  5. Evaluation of Short Stature, Carbohydrate Metabolism and Other Endocrinopathies in Bloom’s Syndrome

    Microsoft Academic Search

    Alejandro Diaz; Maria G. Vogiatzi; Maureen M. Sanz; James German

    2006-01-01

    Aims: To obtain an understanding of the etiology of proportional dwarfism and endocrinopathies of Bloom’s syndrome (BS). Methods: Admission for 5-day periods to an NIH-supported Clinical Research Center of a randomly selected population of persons with BS (n = 11; mean age 11.5 years, range 9 months to 28.5 years) for clinical and genetic history-taking, physical examination, and endocrinological, gastroenterological

  6. Increased blood pressure in adolescents of low socioeconomic status with short stature

    Microsoft Academic Search

    Maria Teresa Bechere Fernandes; Ricardo Sesso; Paula Andrea Martins; Ana Lydia Sawaya

    2003-01-01

    The nutritional programming hypothesis, which has been studied since the 1970s, proposes that intrauterine undernutrition continuing during the first years of life causes permanent metabolic disorders. These alterations are amplified with time, depending on the quality of the diet and on environmental factors. The aim of this cross-sectional study was to detect blood pressure alterations in teenagers with nutritional deficit.

  7. Brothers with germline PTEN mutations and persistent hypoglycemia, macrocephaly, developmental delay, short stature, and coagulopathy.

    PubMed

    Granados, Andrea; Eng, Charis; Diaz, Alejandro

    2013-01-01

    Phosphatase and tensin homologue deleted in chromosome 10 (PTEN) has dual protein and lipid phosphatase activity, and its tumor suppressor activity is dependent on its lipid phosphatase activity, which negatively regulates the phosphatidylinositol 3-kinase/Akt pathway. Mutations in PTEN have been identified in different clinical disorders such as Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, Proteus syndrome, Proteus-like syndrome, and autism spectrum disorders with macrocephaly (Hobert). The absence of clear genotype-phenotype correlations between these syndromes appears to represent age-related manifestations of the same condition, which shows variable expressivity. Here, we present two siblings whose phenotypes were extremely variable compared with the original descriptions of the syndromes associated with PTEN germline mutations. Our patients present with a unique constellation of features that have not yet been described in humans with PTEN germline mutations, some of which have not been described in the same individual, like severe hypoglycemia, growth hormone deficiency, Von Willebrand disease, and dyslipidemia. PMID:23382303

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

    SciTech Connect

    NONE

    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.

  9. De Sanctis-Caccione syndrome: xeroderma pigmentosum with oligophrenia, short stature and neurologic disorders.

    PubMed

    Niederauer, H H; Bohnert, E; Altmeyer, P; Jung, E G

    1992-01-01

    A 6 year-old boy with de Sanctis-Cacchione syndrome is reported. This syndrome is characterized by the triad xeroderma pigmentosum (XP), mental deficiency and neurological disturbances. The patient's cells were assigned to genetic complementation group A by use of the cell fusion technique. DNA repair capacity as measured by unscheduled DNA synthesis (UDS) was drastically reduced to 7.5%, compared with 100% of the controls. The rate of sister chromatid exchange (SCE), an indicator of the hypermutability in XP, was clearly elevated after ultraviolet radiation of skin fibroblasts of the patient. PMID:1612905

  10. Obesity, voracity, and short stature: the impact of glutamate on the regulation of appetite

    Microsoft Academic Search

    M Hermanussen; A P García; M Sunder; M Voigt; V Salazar; J A F Tresguerres

    2006-01-01

    Background:World-wide obesity has risen to alarming levels. We present experimental support for a new and very challenging hypothesis linking obesity, voracity, and growth hormone (GH) deficiency, to the consumption of elevated amounts of the amino-acid glutamate (GLU). Supraphysiological doses of GLU are toxic for neuronal cells.Methods:Human data were obtained from 807 592 German conscripts born between 1974 and 1978, and

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

    Microsoft Academic Search

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

    2009-01-01

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

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

    PubMed

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

    2009-05-01

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

  13. Cross sectional stature and weight reference curves for the UK, 1990

    Microsoft Academic Search

    J V Freeman; T J Cole; S Chinn; P R Jones; E M White; M A Preece

    1995-01-01

    The current reference curves of stature and weight for the UK were first published in 1966 and have been used ever since despite increasing concern that they may not adequately describe the growth of present day British children. Using current data from seven sources new reference curves have been estimated from birth to 20 years for children in 1990. The

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

    PubMed

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

    2014-08-01

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

  15. NINETEENTH CENTURY MEXICAN STATURES IN THE UNITED STATES AND THEIR RELATIONSHIP WITH INSOLATION AND VITAMIN D

    Microsoft Academic Search

    SCOTT ALAN CARSON

    2010-01-01

    Summary. The use of height data to measure living standards is now a well-established method in economics. However, there are still some popu- lations, places and times for which the comparison across groups remains unclear. One example is 19th century Mexicans in the US. This study demonstrates that after comparing the statures of Mexicans born in Mexico and the US

  16. 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

  17. 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

  18. 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

  19. Stature and robusticity during the agricultural transition: evidence from the bioarchaeological record.

    PubMed

    Mummert, Amanda; Esche, Emily; Robinson, Joshua; Armelagos, George J

    2011-07-01

    The population explosion that followed the Neolithic revolution was initially explained by improved health experiences for agriculturalists. However, empirical studies of societies shifting subsistence from foraging to primary food production have found evidence for deteriorating health from an increase in infectious and dental disease and a rise in nutritional deficiencies. In Paleopathology at the Origins of Agriculture (Cohen and Armelagos, 1984), this trend towards declining health was observed for 19 of 21 societies undergoing the agricultural transformation. The counterintuitive increase in nutritional diseases resulted from seasonal hunger, reliance on single crops deficient in essential nutrients, crop blights, social inequalities, and trade. In this study, we examined the evidence of stature reduction in studies since 1984 to evaluate if the trend towards decreased health after agricultural transitions remains. The trend towards a decrease in adult height and a general reduction of overall health during times of subsistence change remains valid, with the majority of studies finding stature to decline as the reliance on agriculture increased. The impact of agriculture, accompanied by increasing population density and a rise in infectious disease, was observed to decrease stature in populations from across the entire globe and regardless of the temporal period during which agriculture was adopted, including Europe, Africa, the Middle East, Asia, South America, and North America. PMID:21507735

  20. Changes in muscle activity and stature recovery after active rehabilitation for chronic low back pain.

    PubMed

    Lewis, Sandra; Holmes, Paul; Woby, Steve; Hindle, Jackie; Fowler, Neil

    2014-06-01

    Patients with low back pain often demonstrate elevated paraspinal muscle activity compared to asymptomatic controls. This hyperactivity has been associated with a delayed rate of stature recovery following spinal loading tasks. The aim of this study was to investigate the changes in muscle activity and stature recovery in patients with chronic low back pain following an active rehabilitation programme. The body height recovery over a 40-min unloading period was assessed via stadiometry and surface electromyograms were recorded from the paraspinal muscles during standing. The measurements were repeated after patients had attended the rehabilitation programme and again at a six-month follow-up. Analysis was based on 17 patients who completed the post-treatment analysis and 12 of these who also participated in the follow-up. By the end of the six months, patients recovered significantly more height during the unloading session than at their initial visit (ES = 1.18; P < 0.01). Greater stature recovery immediately following the programme was associated with decreased pain (r = -0.55; P = 0.01). The increased height gain after six months suggests that delayed rates of recovery are not primarily caused by disc degeneration. Muscle activity did not decrease after treatment, perhaps reflecting a period of adaptation or altered patterns of motor control. PMID:24582115

  1. 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

  2. Nineteenth century African-American and white US statures: the primary sources of vitamin D and their relationship with height

    Microsoft Academic Search

    Scott Alan Carson

    2011-01-01

    Vitamin D is vital in all vertebrates because it allows them to absorb more calcium from their diets, contributing to stronger\\u000a skeletal systems, and taller statures. Using a source of 19th century US state prison records, this study contrasts the statures\\u000a of comparable African-Americans and whites by the primary sources of vitamin D production: time exposed to solar radiation,\\u000a skin

  3. Stature estimation in Japanese cadavers based on pelvic measurements in three-dimensional multidetector computed tomographic images.

    PubMed

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

    2014-05-01

    The aim of this study was to examine the feasibility of stature estimation by measuring the pelvic bones of Japanese cadavers using three-dimensional (3D) computed tomography (CT). We assessed 3D reconstructed images of 210 Japanese subjects (108 males, 102 females) who had undergone postmortem CT between May 2011 and November 2013. We defined the linear distance from the anterosuperior margin of the left and right anterior superior iliac spines (ASIS) to the posterior margin of the left and right ischial spines as the LSS and RSS, respectively. We also defined the linear distance from the anterosuperior margin of the left and right ASIS to the anteroinferior margin of the left and right ischial tuberosities as the LST and RST, respectively. The correlation between the cadaver stature (CS) and each parameter (LSS, LST, RSS, and RST) was evaluated using Pearson product-moment correlation coefficients and regression analysis was performed for stature estimation. All four parameters correlated significantly with stature independent of sex, suggesting that they can be used as a tool for stature estimation. The LST had the closest correlation with stature in both sexes. PMID:24789263

  4. Contiguous Gene Syndromes Due to Deletions in the Distal Short Arm of the Human X Chromosome

    Microsoft Academic Search

    A. Ballabio; B. Bardoni; R. Carrozzo; G. Andria; D. Bick; L. Campbell; B. Hamel; M. A. Ferguson-Smith; G. Gimelli; M. Fraccaro; P. Maraschio; O. Zuffardi; S. Guioli; G. Camerino

    1989-01-01

    Mendelian inherited disorders due to deletions of adjacent genes on a chromosome have been described as ``contiguous gene syndromes.'' Short stature, chondrodysplasia punctata, mental retardation, steroid sulfatase deficiency, and Kallmann syndrome have been found as isolated entities or associated in various combinations in 27 patients with interstitial and terminal deletions involving the distal short arm of the X chromosome. The

  5. 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. [INSERM, Marseille (France)] [and others] [INSERM, Marseille (France); and others

    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.

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

    PubMed Central

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

    2014-01-01

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

  7. 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

  8. [Nemaline myopathy as a cause of neonatal hypotonia - with emphasis on personal experiences. Report of a family with two brothers affected].

    PubMed

    Bojdo, Agata; Obersztyn, Ewa; Wallgren-Pettersson, Carina; Lehtokari, Vilma; Laing, Nigel; Davis, Mark; Ku?akowska, Zofia

    2009-01-01

    Nemaline myopathy is a heterogenous form of congenital myopathy characterised by a variable spectrum of clinical features, predominated in the severe form by profound muscle hypotonia and weakness accompanied by respiratory insufficiency. The clinical variability, with differing age of onset and severity of symptoms makes the diagnosis of nemaline myopathy difficult in some cases. Severe forms of nemaline myopathy may be caused by mutation of a number of different genes: skeletal muscle actin (ACTA1), nebulin (NEB) and alpha-tropomyosin (TPM3), all of which encode components of the sarcomeric thin filaments of skeletal muscle. We describe the severe form of nemaline myopathy diagnosed in two brothers who died at the age of 12 days and 9 months, due to respiratory insufficiency caused by severe muscle weakness. Polyhydramnios and weakness of foetal movements in the IIIrd trimester of pregnancy, as well as variable clinical severity were noted in both cases. Microscopically visible significant immaturity of muscle fibers was found in the skeletal muscle biopsy performed in one of the brothers. The diagnosis of nemaline myopathy was confirmed by the presence of nemaline bodies (rods) in sections stained using the Gomori trichrome method. Molecular studies of DNA isolated from blood leucocytes showed no mutation in the ACTA1 or the TPM3 genes. Linkage analysis with polymorphic markers did not rule out linkage to part of the NEB gene locus. Results of the clinical evaluation and the investigations performed in the family members confirm that it is essential to consider congenital myopathies in the differential diagnosis of neonatal and infantile hypotonia with respiratory insufficiency. Molecular verification of the clinical diagnosis is also important for genetic counselling of the families. PMID:19648653

  9. 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

  10. 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…

  11. 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…

  12. Two families with quadrupedalism, mental retardation, no speech, and infantile hypotonia (Uner Tan Syndrome Type-II); a novel theory for the evolutionary emergence of human bipedalism

    PubMed Central

    Tan, Uner

    2014-01-01

    Two consanguineous families with Uner Tan Syndrome (UTS) were analyzed in relation to self-organizing processes in complex systems, and the evolutionary emergence of human bipedalism. The cases had the key symptoms of previously reported cases of UTS, such as quadrupedalism, mental retardation, and dysarthric or no speech, but the new cases also exhibited infantile hypotonia and are designated UTS Type-II. There were 10 siblings in Branch I and 12 siblings in Branch II. Of these, there were seven cases exhibiting habitual quadrupedal locomotion (QL): four deceased and three living. The infantile hypotonia in the surviving cases gradually disappeared over a period of years, so that they could sit by about 10 years, crawl on hands and knees by about 12 years. They began walking on all fours around 14 years, habitually using QL. Neurological examinations showed normal tonus in their arms and legs, no Babinski sign, brisk tendon reflexes especially in the legs, and mild tremor. The patients could not walk in a straight line, but (except in one case) could stand up and maintain upright posture with truncal ataxia. Cerebello-vermial hypoplasia and mild gyral simplification were noted in their MRIs. The results of the genetic analysis were inconclusive: no genetic code could be identified as the triggering factor for the syndrome in these families. Instead, the extremely low socio-economic status of the patients was thought to play a role in the emergence of UTS, possibly by epigenetically changing the brain structure and function, with a consequent selection of ancestral neural networks for QL during locomotor development. It was suggested that UTS may be regarded as one of the unpredictable outcomes of self-organization within a complex system. It was also noted that the prominent feature of this syndrome, the diagonal-sequence habitual QL, generated an interference between ipsilateral hands and feet, as in non-human primates. It was suggested that this may have been the triggering factor for the attractor state “bipedal locomotion” (BL), which had visual and manual benefits for our ape-like ancestors, and therefore enhancing their chances for survival, with consequent developments in the psychomotor domain of humans. This was put forward as a novel theory of the evolution of BL in human beings. PMID:24795558

  13. Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.

    PubMed

    Shuvarikov, Andrey; Campbell, Ian M; Dittwald, Piotr; Neill, Nicholas J; Bialer, Martin G; Moore, Christine; Wheeler, Patricia G; Wallace, Stephanie E; Hannibal, Mark C; Murray, Michael F; Giovanni, Monica A; Terespolsky, Deborah; Sodhi, Sandi; Cassina, Matteo; Viskochil, David; Moghaddam, Billur; Herman, Kristin; Brown, Chester W; Beck, Christine R; Gambin, Anna; Cheung, Sau Wai; Patel, Ankita; Lamb, Allen N; Shaffer, Lisa G; Ellison, Jay W; Ravnan, J Britt; Stankiewicz, Pawe?; Rosenfeld, Jill A

    2013-10-01

    We describe the molecular and clinical characterization of nine individuals with recurrent, 3.4-Mb, de novo deletions of 3q13.2-q13.31 detected by chromosomal microarray analysis. All individuals have hypotonia and language and motor delays; they variably express mild to moderate cognitive delays (8/9), abnormal behavior (7/9), and autism spectrum disorders (3/9). Common facial features include downslanting palpebral fissures with epicanthal folds, a slightly bulbous nose, and relative macrocephaly. Twenty-eight genes map to the deleted region, including four strong candidate genes, DRD3, ZBTB20, GAP43, and BOC, with important roles in neural and/or muscular development. Analysis of the breakpoint regions based on array data revealed directly oriented human endogenous retrovirus (HERV-H) elements of ~5 kb in size and of >95% DNA sequence identity flanking the deletion. Subsequent DNA sequencing revealed different deletion breakpoints and suggested nonallelic homologous recombination (NAHR) between HERV-H elements as a mechanism of deletion formation, analogous to HERV-I-flanked and NAHR-mediated AZFa deletions. We propose that similar HERV elements may also mediate other recurrent deletion and duplication events on a genome-wide scale. Observation of rare recurrent chromosomal events such as these deletions helps to further the understanding of mechanisms behind naturally occurring variation in the human genome and its contribution to genetic disease. PMID:23878096

  14. Prenatal diagnosis of partial trisomy 3q (3q27.3?qter) and partial monosomy 14q (14q31.3?qter) of paternal origin associated with fetal hypotonia, arthrogryposis, scoliosis and hyperextensible joints.

    PubMed

    Chen, Chih-Ping; Chang, Yao-Lung; Chern, Schu-Rern; Wu, Peih-Shan; Su, Jun-Wei; Chen, Wen-Lin; Chen, Li-Feng; Wang, Wayseen

    2013-03-01

    We present rapid aneuploidy diagnosis of partial trisomy 3q (3q27.3?qter) and partial monosomy 14q (14q31.3?qter) of paternal origin by aCGH using uncultured amniocytes in a fetus with hypotonia, scoliosis, arthrogryposis, hyperextensible joints, facial dysmorphism, ventricular septal defect, pulmonary stenosis, clenched hands, clubfoot, scalp edema and right hydronephrosis. We discuss the genotype-phenotype correlation of 3q duplication syndrome and terminal 14q deletion syndrome. We demonstrate that fetuses with a paternal-origin deletion of 14q involving the 14q32.2 imprinted region may prenatally present the upd(14)mat-like phenotype such as hypotonia, scoliosis, arthrogryposis and hyperextensible joints. PMID:23266805

  15. 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…

  16. A gene for cleidocranial dysplasia to the short arm of chromosome 6

    Microsoft Academic Search

    G. F. Feldman; M. Muenke; N. H. Robin; E. H. Zackai; D. L. Gasser; C. Bailey; J. Siegel-Bartelt; L. A. Brueton; E. Robertson; E. M. Thompson

    1995-01-01

    Cleidocranial dysplasia (CCD) is an autosomal dominant generalized bone dysplasia characterized by mild-to-moderate short stature, clavicular aplasia or hypoplasia, supernumerary and ectopic teeth, delayed eruption of secondary teeth, a characteristic craniofacial appearance, and a variety of other skeletal anomalies. We have performed linkage studies in five families with CCD, with 24 affected and 20 unaffected individuals, using microsatellite markers spanning

  17. Growth Hormone Therapy for Short Children Born Small for Gestational Age

    Microsoft Academic Search

    P. Chatelain; A. Carrascosa; G. Bona; A. Ferrandez-Longas; W. Sippell

    2007-01-01

    Children born small for gestational age may demonstrate continued growth retardation, resulting in persistent short stature. In the majority of the cases, this is linked with abnormal growth hormone secretion and also abnormal insulin-like growth factor levels. This review discusses the treatment of such children with recombinant human growth hormone. It illustrates the importance of starting therapy early, the dose-dependent

  18. Large interstitial deletion of chromosome 13q and severe short stature: clinical report and review of the literature.

    PubMed

    Slavotinek, Anne M; Lacbawan, Felicitas

    2003-07-01

    We report a 16 year old African American female with an interstitial deletion of chromosome 13 comprising approximately 40% of the long arm of this chromosome [karyotype 46,XX, del(13)(q14.12q31.2)]. We believe that this case is interesting because of the large size of the chromosome deletion, the severe growth retardation seen in the proband and her prolonged survival. PMID:14564160

  19. 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

  20. Does natural selection favour taller stature among the tallest people on earth?

    PubMed

    Stulp, Gert; Barrett, Louise; Tropf, Felix C; Mills, Melinda

    2015-05-01

    The Dutch are the tallest people on earth. Over the last 200 years, they have grown 20 cm in height: a rapid rate of increase that points to environmental causes. This secular trend in height is echoed across all Western populations, but came to an end, or at least levelled off, much earlier than in The Netherlands. One possibility, then, is that natural selection acted congruently with these environmentally induced changes to further promote tall stature among the people of the lowlands. Using data from the LifeLines study, which follows a large sample of the population of the north of The Netherlands (n = 94 516), we examined how height was related to measures of reproductive success (as a proxy for fitness). Across three decades (1935-1967), height was consistently related to reproductive output (number of children born and number of surviving children), favouring taller men and average height women. This was despite a later age at first birth for taller individuals. Furthermore, even in this low-mortality population, taller women experienced higher child survival, which contributed positively to their increased reproductive success. Thus, natural selection in addition to good environmental conditions may help explain why the Dutch are so tall. PMID:25854890

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

    PubMed

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

    2014-11-01

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

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

    PubMed Central

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

    2004-01-01

    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. Effect of Full Sibs on Additive Breeding Values Under the Dominance Model for Stature in United States Holsteins

    Microsoft Academic Search

    L. Varona; I. Misztal; J. K. Bertrand; T. J. Lawlor

    1998-01-01

    Differences in breeding values between dominance and additive models were examined theoretically and with field data. Data included 5.2 million records on stature from 3.0 million US Holsteins. The largest full-sib family had 29 animals, and 7% of all animals had at least one full sib. The dominance model, which accounted for dominance covariances, included the following effects: management, age,

  4. Relationship between the stature and the length of long bones measured from the X-rays; modified trotter and gleser formulae in iranian population: A preliminary report.

    PubMed

    Farsinejad, Mohammadreza; Rasaneh, Samira; Zamani, Nasim; Jamshidi, Farkhondeh

    2014-01-01

    Background: We aimed to determine specific formulae by which we are able to estimate the body stature from the length of ulna and tibia calculated from the X-rays in order to be a reference for skeletal remains-based identification in Iranian population.Methods: The length of right ulna and tibia of 49 male and 52 female adults, who were anatomically healthy, were measured on the antero-posterior X-rays. Body height of each subject was also recorded. Results: Mean stature of the male and female adults was reported to be 171 ± 3.6 and 160 ± 3.9 centimeters (cm), respectively. Four single linear regression equations and 2 multiple regression equations were obtained. Conclusions: Lengths of ulna and tibia measured on the X-rays may be useful for estimation of the stature in cases of forensic personal identification. Keywords: stature - length of long bones - ulna - tibia - radiological evaluation - skeletal remains. PMID:24754371

  5. Adult Height in Short Normal Girls Treated with Gonadotropin-Releasing Hormone Analogs and Growth Hormone

    Microsoft Academic Search

    ANNA MARIA PASQUINO; IDA PUCARELLI; MARIO ROGGINI; MARIA SEGNI

    Combined treatment with GH and GnRH analogs (GnRHa) has been proposed to improve final adult height in true precocious pu- berty, GH deficiency, and short normal subjects with early or normal timing of puberty with still controversial results. We treated 12 girls with idiopathic short stature and normal or early puberty with GH and GnRHa and followed them to adult

  6. A stature-specific concept for uncemented, primary total hip arthroplasty

    PubMed Central

    Omlor, Georg W; Ullrich, Hannah; Krahmer, Knut; Jung, Alexander; Aldinger, Günther

    2010-01-01

    Background and purpose Variations in hip anatomy limit the femoral canal fit of standard uncemented hip stems. In addition, there are still issues with leg length discrepancy and offset reconstruction, potentially resulting in impingement, dislocation, and wear. Modular stems with different shapes for femoral canal fit and multiple neck options may improve the outcome and reduce complications. Patients and methods 173 patients (190 hips) received an uncemented THA with 1 of 2 different stem shapes for canal fit and a modular neck for stature-specific hip reconstruction. Median follow-up time was 9 (7–13) years. During the follow-up period, 20 patients died (22 hips) and 12 patients (13 hips) were lost to follow-up. 155 hips were available for evaluation, including clinical and radiological outcome. Results 1 stem was revised for a periprosthetic fracture following trauma; 10 cups and 2 modular necks were revised (1 for breakage and 1 during cup revision). At 10 years, stem survival was 100%, modular neck survival was 99% (CI: 95–100), and cup survival was 94% (CI: 87–97). No leg length discrepancies were measured in 96% of cases. Offset with anatomic lateralization was achieved in 98%. Median Harris hip score was 94 (47–100) and median Merle d'Aubigné score was 16 (10–18). Relevant radiolucent lines and osteolysis were not found. Interpretation The uncemented modular neck, dual-stem system used in this series allows accurate reconstruction of the joint by adapting the implant to the needs of the patient. This may improve the outcome of primary THA, which is supported by the results of this medium-term follow-up evaluation. PMID:20146639

  7. Case report on SHORT syndrome.

    PubMed

    Joo, S H; Raygada, M; Gibney, S; Farzaneh, I; Rennert, O M

    1999-07-01

    The acronym SHORT was first used by Gorlin et al. (1975) and Sensenbrenner et al. (1975) to define a recognizable pattern of features, consisting of Short Stature, Hyperextensibility of joints and/or inguinal Hernia, Ocular depression, Rieger anomaly, and Teething delay. Other features characteristic of the syndrome included intrauterine growth retardation (IUGR), slow weight gain, frequent illness, triangular face, anteverted ears, telecanthus, deeply set eyes, wide nasal bridge, hypoplastic alae nasi, chin dimple, micrognathia, clinodactyly, partial lipodystrophy, hearing loss, functional heart murmur, delayed bone age, delayed speech, normal intellect, glucose intolerance, and insulinopenic diabetes. To our knowledge 19 cases of SHORT syndrome have been reported (Gorlin et al., 1975; Sensenbrenner et al., 1975; Aarskog et al., 1983; Toriello et al., 1985; Lipson et al., 1989; Schwingshandl et al., 1993; Verge et al., 1994; Bankier et al., 1985; Brodsky et al., 1996; Sorge et al., 1996; Haan and Morris, 1998). We report the twentieth patient diagnosed with SHORT syndrome who presented with growth retardation, sensorineural hearing loss, and minor dysmorphic features, consistent with the phenotype described for this syndrome. PMID:10457859

  8. Adaptive survival mechanisms and growth limitations of small-stature herb species across a plant diversity gradient.

    PubMed

    Dassler, A; Roscher, C; Temperton, V M; Schumacher, J; Schulze, E-D

    2008-09-01

    Several biodiversity experiments have shown positive effects of species richness on aboveground biomass production, but highly variable responses of individual species. The well-known fact that the competitive ability of plant species depends on size differences among species, raises the question of effects of community species richness on small-stature subordinate species. We used experimental grasslands differing in species richness (1-60 species) and functional group richness (one to four functional groups) to study biodiversity effects on biomass production and ecophysiological traits of five small-stature herbs (Bellis perennis, Plantago media, Glechoma hederacea, Ranunculus repens and Veronica chamaedrys). We found that ecophysiological adaptations, known as typical shade-tolerance strategies, played an important role with increasing species richness and in relation to a decrease in transmitted light. Specific leaf area and leaf area ratio increased, while area-based leaf nitrogen decreased with increasing community species richness. Community species richness did not affect daily leaf carbohydrate turnover of V. chamaedrys and P. media indicating that these species maintained efficiency of photosynthesis even in low-light environments. This suggests an important possible mechanism of complementarity in such grasslands, whereby smaller species contribute to a better overall efficiency of light use. Nevertheless, these species rarely contributed a large proportion to community biomass production or achieved higher yields in mixtures than expected from monocultures. It seems likely that the allocation to aboveground plant organs to optimise carbon assimilation limited the investment in belowground organs to acquire nutrients and thus hindered these species from increasing their performance in multi-species mixtures. PMID:18761496

  9. Short term power output in relation to growth and maturation

    PubMed Central

    Armstrong, N; Welsman, J; Chia, M

    2001-01-01

    Objective—To examine short term power output during growth and maturation using a multilevel modelling approach. Methods—Body mass, stature, and triceps and subscapular skinfold thicknesses of boys and girls, aged 12.2 (0.4) years (mean (SD)) at the onset of the study, were measured at age 12, 13, and 17 years. Sexual maturation, classified according to Tanner's stage of pubic hair development, was assessed on the first two occasions and assumed to be stage 5 at 17 years. Peak power (PP) and mean power (MP) were assessed on each occasion using the Wingate anaerobic test. Results—Initial models, founded on 417 determinations of short term power output, identified body mass, stature, and age as significant explanatory variables of both PP and MP. The values for girls were significantly lower than those for boys, and a significant age by sex interaction described a progressive divergence in the MP of boys and girls. The introduction of sum of two skinfold thicknesses produced a model with an improvement in fit as indicated by a significant change in log likelihood. The stature term was negated and the body mass term increased. The age and sex terms were reduced but remained significant. The age by sex interaction term remained a significant explanatory variable for MP. Maturity effects were non-significant additional explanatory variables in all models of power output. Conclusion—The values of PP and MP for boys are higher than those for girls, and, for MP, sex differences increase with age. Body mass and skinfold thicknesses are significant influences on both PP and MP, but age exerts a positive but non-linear effect on power output independent of body size and fatness. Key Words: children; mean power; multilevel modelling; peak power PMID:11273974

  10. Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings.

    PubMed

    Spielmann, Malte; Reichelt, Gabriele; Hertzberg, Christoph; Trimborn, Marc; Mundlos, Stefan; Horn, Denise; Klopocki, Eva

    2011-01-01

    The heterozygous 15q13.3 microdeletion syndrome (MIM #612001) was first described by Sharp et al. in 2008. So far four patients with 15q13.3 homozygous or compound heterozygous microdeletions have been identified. Here we report a non-consanguineous family with two affected siblings carrying a homozygous microdeletion of ?1.5 Mb at the 15q13.3 locus. They presented with congenital retinal dysfunction, refractory epilepsy, encephalopathy, mental retardation, repetitive hand movements, severe muscular hypotonia and macrocytosis. Dysmorphic facial features are synophrys and bilateral proptosis. The siblings carry a homozygous microdeletion at 15q13.3 of ?1.5 Mb including the genes ARHGAP11B, MTMR15, MTMR10, TRPM1, KLF13, OTUD7A, and CHRNA7. The absence of CHRNA7 has been suggested as a cause of refractory seizures. According to knock-out experiments the deletion of KLF13 could be an explanation for macrocytosis. The homozygous loss of TRPM1 could be a possible explanation for congenital retinal dysfunction. PMID:21596161

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

    PubMed

    Smith, Duncan D; Sperry, John S

    2014-12-01

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

  12. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature

    PubMed Central

    2010-01-01

    Background Human height is considered highly heritable and correlated with certain disorders, such as type 2 diabetes and cancer. Despite environmental influences, genetic factors are known to play an important role in stature determination. A number of genetic determinants of adult height have already been established through genome wide association studies. Methods To examine 51 single nucleotide polymorphisms (SNPs) corresponding to the 46 previously reported genomic loci for height in 8,184 European American children with height measurements. We leveraged genotyping data from our ongoing GWA study of height variation in children in order to query the 51 SNPs in this pediatric cohort. Results Sixteen of these SNPs yielded at least nominally significant association to height, representing fifteen different loci including EFEMP1-PNPT1, GPR126, C6orf173, SPAG17, Histone class 1, HLA class III and GDF5-UQCC. Other loci revealed no evidence for association, including HMGA1 and HMGA2. For the 16 associated variants, the genotype score explained 1.64% of the total variation for height z-score. Conclusion Among 46 loci that have been reported to associate with adult height to date, at least 15 also contribute to the determination of height in childhood. PMID:20546612

  13. The results of short-term (6 months) high-dose testosterone treatment on bone age and adult height in boys of excessively tall stature

    Microsoft Academic Search

    J. H. Briimswig; H. J. v. Lengerke; H. Schmidt; G. Schellong

    1988-01-01

    Forty-nine pubertal tall boys with a mean height prediction of 203.59 cm according to the Bayley-Pinneau (BP) method were treated prospectively with 500 mg testosterone-oenanthate every 2 weeks for a period of 6 months. Before therapy chronological age (CA) was 14.14 years and bone age (BA) 13.88 years using the Greulich-Pyle (GP) method. During therapy BA advanced by 1.37 years.

  14. 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

    Bicakci, Zafer

    2015-03-01

    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

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

    PubMed

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

    2014-11-26

    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 five-year period. The test sample in this study consisted of 21 young female volleyball players (15.3 ± 1.5 y) 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 European competition level in 2013. Five multivariate analyses of variance (MANOVA) were used. There was no significant effect of playing level on measures of anthropometry (F = 0.455, p = 0.718, ?p = 0.07), flexibility (F = 1.861, p = 0.188, ?p = 0.19), strength (F = 1.218, p = 0.355, ?p = 0.32); and speed and agility (F = 1.176, p = 0.350, ?p = 0.18). MANOVA revealed significant multivariate effects between playing levels for motor coordination (F=3.470, p = 0.036, ?p = 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

  16. 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

  17. Short Circuit

    NSDL National Science Digital Library

    The Exploratorium

    2011-12-02

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

  18. A genome-wide association study using international breeding-evaluation data identifies major loci affecting production traits and stature in the Brown Swiss cattle breed

    PubMed Central

    2012-01-01

    Background The genome-wide association study (GWAS) is a useful approach to identify genes affecting economically important traits in dairy cattle. Here, we report the results from a GWAS based on high-density SNP genotype data and estimated breeding values for nine production, fertility, body conformation, udder health and workability traits in the Brown Swiss cattle population that is part of the international genomic evaluation program. Result GWASs were performed using 50?k SNP chip data and deregressed estimated breeding values (DEBVs) for nine traits from between 2061 and 5043 bulls that were part of the international genomic evaluation program coordinated by Interbull Center. The nine traits were milk yield (MY), fat yield (FY), protein yield (PY), lactating cow’s ability to recycle after calving (CRC), angularity (ANG), body depth (BDE), stature (STA), milk somatic cell score (SCS) and milk speed (MSP). Analyses were performed using a linear mixed model correcting for population confounding. A total of 74 SNPs were detected to be genome-wide significantly associated with one or several of the nine analyzed traits. The strongest signal was identified on chromosome 25 for milk production traits, stature and body depth. Other signals were on chromosome 11 for angularity, chromosome 24 for somatic cell score, and chromosome 6 for milking speed. Some signals overlapped with earlier reported QTL for similar traits in other cattle populations and were located close to interesting candidate genes worthy of further investigations. Conclusions Our study shows that international genetic evaluation data is a useful resource for identifying genetic factors influencing complex traits in livestock. Several genome wide significant association signals could be identified in the Brown Swiss population, including a major signal on BTA25. Our findings report several associations and plausible candidate genes that deserve further exploration in other populations and molecular dissection to explore the potential economic impact and the genetic mechanisms underlying these production traits in cattle. PMID:23031427

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

    SciTech Connect

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

    1995-11-20

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

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

    PubMed

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

    2011-05-01

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

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

    SciTech Connect

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

    1989-12-01

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

  2. [Secular trend of growth in stature in Florianópolis in the state of Santa Catarina (Brazil) in relation with the human development index (HDI)].

    PubMed

    Pinheiro, Andressa Caroline Carneiro; Niederauer, Juliana Minuzzi; Vargas, Deisi Maria

    2014-01-01

    The article seks to evaluate the secular trend of growth in stature of recruits in the 63rd Infantry Battalion in Florianópolis and correlate the information with the human development index (HDI). It involves a transversal and retrospective study of recruits aged between 18 and 20 who joined the 63rd IB in Florianópolis from 1963 to 2007. The sample comprised 600 individuals out of a total of 3000 recruits enlisted over the period. In each decade, three years were selected and within these years the first 40 files were systematically selected for analysis. It was seen that there was an increase in the order of 7 cm in height of recruits in Florianopolis over the past 47 years. This increase was more marked between the decades of 1990 and 2000, with the municipality of Blumenau having the highest average. The average heights study over the decades showed a strong positive correlation with the HDI of Florianopolis during the same period. When comparing the heights of the capital of Santa Catarina and previous studies in Blumenau, it was found that both cities have achieved the same increase of 1.4 cm/decade in the period between the 1960 and 2000. There was a positive secular trend in growth in Florianopolis, with a strong correlation with HDI values of the city between 1960 and 2000. PMID:24473619

  3. Genetics Home Reference: KBG syndrome

    MedlinePLUS

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

  4. Relationship of lifestyle and body stature growth with the development of myopia and axial length elongation in Taiwanese elementary school children

    PubMed Central

    Huang, Chung-Ying; Hou, Chiun-Ho; Lin, Ken-Kuo; Lee, Jiahn-Shing; Yang, Meng-Ling

    2014-01-01

    Context: The development of myopia and growth of the eye, occur at a time when body stature is increasing. Aims: To investigate the relationship of lifestyle and body growth with axial elongation and myopia development among schoolchildren aged 7 to 9 years. Settings and Design: Prospective study. Materials and Methods: Children in elementary schools without serious eye disorders were invited to participate. We measured cycloplegic refraction, corneal curvature, intraocular pressure, axial length, body height, and weight. Questionnaires about the children's daily lifestyles, family members’ myopia and parents’ socio-demographic status were completed. The children were followed up every 6 months in a 3-year period. Statistical Analysis Used: Bivariate correlations, simple and multiple regression. Results: Eighty-eight children participated in this study. Forty-eight were myopic at the beginning of the study, and their myopia correlated with longer axial length and parental myopia (P = 0.015, 0.012). Sixty-five children (74%) completed the study, and the rates of change per year were -0.43 ± 0.58 (mean + standard deviation) diopters in spherical equivalence, 0.32 ± 0.25 mm in axial length (AL), 5.73 ± 2.71 cm in body height, and 3.84 ± 2.23 kg in weight. The axial length change was positively correlated with the height change (P < 0.001). The myopia shift was correlated to axial length change (P = 0.000) but not correlated to height change. Using multiple regression test, near work was the only significant risk factor for myopia progression (P = 0.022). Conclusions: Our study showed that body height increment was correlated to axial length elongation but not to myopia shift in children aged 7-9 years. Genetic factors such as parental myopia and body height had a possible influence on myopia development, and the environment factor as near work intensity was related to myopia progression. PMID:25230963

  5. Mutations in PIK3R1 Cause SHORT Syndrome

    PubMed Central

    Dyment, David A.; Smith, Amanda C.; Alcantara, Diana; Schwartzentruber, Jeremy A.; Basel-Vanagaite, Lina; Curry, Cynthia J.; Temple, I. Karen; Reardon, William; Mansour, Sahar; Haq, Mushfequr R.; Gilbert, Rodney; Lehmann, Ordan J.; Vanstone, Megan R.; Beaulieu, Chandree L.; Majewski, Jacek; Bulman, Dennis E.; O’Driscoll, Mark; Boycott, Kym M.; Innes, A. Micheil

    2013-01-01

    SHORT syndrome is a rare, multisystem disease characterized by short stature, anterior-chamber eye anomalies, characteristic facial features, lipodystrophy, hernias, hyperextensibility, and delayed dentition. As part of the FORGE (Finding of Rare Disease Genes) Canada Consortium, we studied individuals with clinical features of SHORT syndrome to identify the genetic etiology of this rare disease. Whole-exome sequencing in a family trio of an affected child and unaffected parents identified a de novo frameshift insertion, c.1906_1907insC (p.Asn636Thrfs?18), in exon 14 of PIK3R1. Heterozygous mutations in exon 14 of PIK3R1 were subsequently identified by Sanger sequencing in three additional affected individuals and two affected family members. One of these mutations, c.1945C>T (p.Arg649Trp), was confirmed to be a de novo mutation in one affected individual and was also identified and shown to segregate with the phenotype in an unrelated family. The other mutation, a de novo truncating mutation (c.1971T>G [p.Tyr657?]), was identified in another affected individual. PIK3R1 is involved in the phosphatidylinositol 3 kinase (PI3K) signaling cascade and, as such, plays an important role in cell growth, proliferation, and survival. Functional studies on lymphoblastoid cells with the PIK3R1 c.1906_1907insC mutation showed decreased phosphorylation of the downstream S6 target of the PI3K-AKT-mTOR pathway. Our findings show that PIK3R1 mutations are the major cause of SHORT syndrome and suggest that the molecular mechanism of disease might involve downregulation of the PI3K-AKT-mTOR pathway. PMID:23810382

  6. Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

    PubMed Central

    El-Hattab, Ayman W.; Smolarek, Teresa A.; Walker, Martha E.; Schorry, Elizabeth K.; Immken, LaDonna L.; Patel, Gayle; Abbott, Mary-Alice; Lanpher, Brendan C.; Ou, Zhishuo; Kang, Sung-Hae L.; Patel, Ankita; Scaglia, Fernando; Lupski, James R.; Cheung, Sau Wai

    2013-01-01

    We report four new patients with a submicroscopic deletion in 15q24 manifesting developmental delay, short stature, hypotonia, digital abnormalities, joint laxity, genital abnormalities, and characteristic facial features. These clinical features are shared with six recently reported patients with a 15q24 microdeletion, supporting the notion that this is a recognizable syndrome. We describe a case of an ~2.6 Mb microduplication involving a portion of the minimal deletion critical region in a 15-year-old male with short stature, mild mental retardation, attention deficit hyperactivity disorder, Asperger syndrome, decreased joint mobility, digital abnormalities, and characteristic facial features. Some of these features are shared with a recently reported case with a 15q24 microduplication involving the minimal deletion critical region. We also report two siblings and their mother with duplication adjacent and distal to this region exhibiting mild developmental delay, hypotonia, tapering fingers, characteristic facial features, and prominent ears. The deletion and duplication breakpoints were mapped by array comparative genomic hybridization and the genomic structure in 15q24 was analyzed further. Surprisingly, in addition to the previously recognized three low-copy repeat clusters (BP1, BP2, and BP3), we identified two other paralogous low-copy repeat clusters that likely mediated the formation of alternative sized 15q24 genomic rearrangements via non-allelic homologous recombination. PMID:19557438

  7. 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

  8. Genetics Home Reference: Thanatophoric dysplasia

    MedlinePLUS

    ... other names do people use for thanatophoric dysplasia? Dwarf, thanatophoric thanatophoric dwarfism thanatophoric short stature For more ... with understanding thanatophoric dysplasia? autosomal ; autosomal dominant ; cell ; dwarf ; dwarfism ; dysplasia ; gene ; protein ; respiratory ; short stature ; stature ; ...

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

    PubMed

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

    2012-01-01

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

  10. Shortness of Breath

    MedlinePLUS

    ... fever. If you are experiencing any of these problems, tell your doctor. Causes & Risk Factors What could be causing my shortness of breath? Shortness of breath can be caused by many things, including the following: Asthma Other lung diseases, including emphysema (say: "em-fa- ...

  11. From tall to short: the role of TGF? signaling in growth and its disorders.

    PubMed

    Le Goff, Carine; Cormier-Daire, Valérie

    2012-08-15

    The acromelic dysplasia group is characterized by short stature, short hands and feet, stiff joint, and "muscular" build. Four disorders can now be ascribed to this group, namely Weill-Marchesani syndrome (WMS), geleophysic dysplasia (GD), acromicric dysplasia (AD), and Myhre syndrome (MS). Although closely similar, they can be distinguished by subtle clinical features and their pattern inheritance. WMS is characterized by the presence of dislocation of microspherophakia and has autosomal dominant or recessive mode of inheritance. GD is the more severe one, with a progressive cardiac valvular thickening, tracheal stenosis, bronchopulmonary insufficiency, often leading to an early death. AD has an autosomal dominant mode of inheritance, distinct facial and skeleton features (a hoarse voice and internal notch of the femoral head). Finally, MS is sporadic, characterized by prognathism, deafness, developmental delay, thickened calvarium, and large vertebrae with short and large pedicles. We first identified mutations in Fibrillin-1 (FBN1) in the dominant form of WMS and then mutations in A Disintegrin-like And Metalloproteinase domain with ThromboSpondin type 1 repeats 10 (ADAMTS10) in the recessive form of WMS. The function of ADAMTS10 is unknown but these findings support a direct interaction between ADAMTS10 and FBN1. We then identified mutations in ADAMTSL2 in the recessive form of GD and a hotspot of mutations in FBN1 in the dominant form of GD and in AD (exon 41-42, encoding TGF? binding protein-like domain 5 (TB5) of FBN1). The function of ADAMTSL2 is unknown. Using a yeast double hybrid screen, we identified latent transforming growth factor-? (TGF?) binding protein 1 as a partner of ADAMTSL2. We found an increased level of active TGF? in the fibroblast medium from patients with FBN1 or ADAMTSL2 mutations and an enhanced phosphorylated SMAD2 level, allowing us to conclude at an enhanced TGF? signaling in GD and AD. Finally, a direct interaction between ADAMTSL2 and FBN1 was demonstrated suggesting a dysregulation of FBN1/ADAMTSL2 interrelationship as the underlying mechanism of the short stature phenotypes. Using exome sequencing in MS probands, we identified de novo SMAD4 missense mutations, all involving isoleucine residue at position 500, in the MH2 domain. In MS fibroblasts, we found decreased ubiquitination level of SMAD4 and increased level of SMAD4 supporting a stabilization of SMAD4 protein. Functional SMAD4 is required for canonical signal transduction through the oligomerization with phosphorylated SMAD2/3 and SMAD1/5/8. We therefore studied the nuclear localization of mutant SMAD complexes and found that the complexes translocate to the nucleus. We finally observed a decreased expression of downstream TGF? target genes supporting impaired TGF? driven transcriptional control in MS. Our findings support a direct link between the short stature phenotypes and the TGF? signaling. However, the finding of enhanced TGF? signaling in Marfan phenotypes supports the existence of yet unknown mechanisms regulating TGF? action. PMID:22791552

  12. 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.

  13. The Short Run

    NSDL National Science Digital Library

    The Short Run is an economics news and information site. The site features news, reviews, and articles on current economic issues including Bush's tax plan and the minimum wage. The site also offers the latest economic indicators and stock information. Be sure to check out the Studies section, which includes a collection of economic studies from the research economists at the Richmond Federal Reserve Bank. The Short Run is an information-rich site that breathes new life into the study of economics; it will be a welcome bookmark for all Web-savvy economists.

  14. 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. [Universita Federico II, Naples (Italy)] [and others] [Universita Federico II, Naples (Italy); and others

    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.

  15. 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.

  16. Developmental Cell Short Article

    E-print Network

    Freund, Jonathan B.

    Developmental Cell Short Article Mechanistic Basis of Otolith Formation during Teleost Inner Ear bundles in the inner ear, serve as inertial sensors for balance. In teleostei, otolith development which form the ear stone or oto- conia located in the vestibular labyrinth of the inner ear

  17. Molecular Cell Short Article

    E-print Network

    Privé, Gil

    development, generation and maintenance of memory T cells, and chemokine gene expression in T helper cellsMolecular Cell Short Article Structure of a BCOR Corepressor Peptide in Complex with the BCL6 BTB Institute, 101 College Street, Toronto, ON M5G 1L7, Canada 2Department of Genetics, Cell Biology

  18. Molecular Cell Short Article

    E-print Network

    Glover, Mark

    tail in the 9-1-1 complex and be required for ATR-mediated Chk1 activation in mammalian cell linesMolecular Cell Short Article BACH1/FANCJ Acts with TopBP1 and Participates Early in DNA Replication in eukaryotic cells to coordinate cellular responses to DNA lesions in an attempt to maintain genomic integrity

  19. Molecular Cell Short Article

    E-print Network

    Molecular Cell Short Article Insights into the Influence of Nucleotides on Actin Family Proteins of Molecular, Cellular and Developmental Biology 2 Department of Cell Biology 3 Department of Molecular-induced conformational changes of residues lining the cleft in Arp3 and actin struc- tures to construct a movie depicting

  20. Science Shorts: Spoilage Science

    NSDL National Science Digital Library

    2005-01-01

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

  1. SHORT COURSE IN MENDE.

    ERIC Educational Resources Information Center

    SPEARS, RICHARD A.

    THIS SHORT COURSE IN MENDE (A TONE LANGUAGE OF LIBERIA AND SIERRA LEONE) IS AN ABRIDGEMENT OF THE BASIC COURSE IN MENDE AND CONSISTS OF THE MOST "IMMEDIATELY USEFUL" PARTS OF THE BASIC COURSE. THESE PARTS INCLUDE A VOCABULARY, USEFUL PHRASES, AND "NARRATIVE DRILLS" TO BE USED WITH THE ACCOMPANYING 18 SLIDES, IN ADDITION TO CHAPTERS ON PHONOLOGY…

  2. 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…

  3. Molecular Cell Short Article

    E-print Network

    Sekelsky, Jeff

    Molecular Cell Short Article Drosophila MUS312 and the Vertebrate Ortholog BTBD12 Interact with DNACurriculum in Genetics and Molecular Biology 2Lineberger Comprehensive Cancer Center 3Department of Biology 4 structures that include forks, flaps, and Holliday junc- tions. Previously, we determined that the Drosophila

  4. Short stem shoulder replacement

    PubMed Central

    Bell, Simon N.; Coghlan, Jennifer A.

    2014-01-01

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

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

    PubMed Central

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

    2014-01-01

    Introduction: There is still controversy for priming with sex steroid before growth hormone (GH) testing. Objective: We studied GH response to stimulation in 92 children >9 years with idiopathic short stature (height standard deviation score [HtSDS]-2). They were divided randomly into two groups. Children in Group 1 (n = 50) were primed with premarin in girls and testosterone in boys and those in Group 2 were not primed (n = 42). All children were tested using standard clonidine test and their serum insulin-like growth factor-I concentration (IGF-I). Additionally the growth and GH-IGF-I data of the two groups of children were compared with those for 32 short children (HtSDS 9 years. The peak GH response to clonidine provocation test did not differ before (n = 42) versus after 9 years (n = 32) of age. Conclusions: In this randomized study priming with sex steroids before GH testing did not significantly increase the yield of diagnosing short patients with normal GH secretion. In addition, GH response to provocation did not vary significantly between young (<9 years) and old (>9 years) short children. PMID:25538882

  6. Short wavelength laser

    DOEpatents

    Hagelstein, Peter L. (Livermore, CA)

    1986-01-01

    A short wavelength laser (28) is provided that is driven by conventional-laser pulses (30, 31). A multiplicity of panels (32), mounted on substrates (34), are supported in two separated and alternately staggered facing and parallel arrays disposed along an approximately linear path (42). When the panels (32) are illuminated by the conventional-laser pulses (30, 31), single pass EUV or soft x-ray laser pulses (44, 46) are produced.

  7. 17alpha-hydroxylase/17,20-Lyase deficiency due to novel compound heterozygote mutations: treatment for tall stature in a female with male pseudohermaphroditism and spontaneous puberty in her affected sister.

    PubMed

    Schwab, Karl Otfried; Moisan, Anne-Marie; Homoki, Janos; Peter, Michael; Simard, Jacques

    2005-04-01

    We report on two German sisters with deficiency in the 17alpha-hydroxylase/17,20-lyase enzyme corresponding to typical hormone profile. A paternal nonsense mutation R388X in exon 7 and a maternal missense mutation P428L in exon 8 of the CYP17 gene have been identified in both girls. Residual in vitro 17alpha-hydroxylase activity for the conversion of [3H]-Preg to [3H]-17OH-Preg has been detected in transfected 293-cells expressing P428L mutant enzyme; however, no 17,20-lyase activity was observed converting [3H]-17OH-Preg into [3H]-DHEA. The 46,XX-sister spontaneously entered puberty. The 46,XY-sister with a predicted adult height of 203 cm was treated with a high dose of conjugated estrogens and resulted with a final height of 186.9 cm. The present data suggest that compound heterozygous 46,XX females bearing a P428L allele may develop spontaneous onset of puberty. Furthermore, in 46,XY females with tall stature, treatment with conjugated estrogens may lead to a significant reduction of their predicted adult height. PMID:15844475

  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. Running energetics of the North American river otter: do short legs necessarily reduce efficiency on land?

    PubMed

    Williams, Terrie M; Ben-David, M; Noren, S; Rutishauser, M; McDonald, K; Heyward, W

    2002-10-01

    Semi-aquatic mammals move between two very different media (air and water), and are subject to a greater range of physical forces (gravity, buoyancy, drag) than obligate swimmers or runners. This versatility is associated with morphological compromises that often lead to elevated locomotor energetic costs when compared to fully aquatic or terrestrial species. To understand the basis of these differences in energy expenditure, this study examined the interrelationships between limb morphology, cost of transport and biomechanics of running in a semi-aquatic mammal, the North American river otter. Oxygen consumption, preferred locomotor speeds, and stride characteristics were measured for river otters (body mass=11.1 kg, appendicular/axial length=29%) trained to run on a treadmill. To assess the effects of limb length on performance parameters, kinematic measurements were also made for a terrestrial specialist of comparable stature, the Welsh corgi dog (body mass=12.0 kg, appendicular/axial length=37%). The results were compared to predicted values for long legged terrestrial specialists. As found for other semi-aquatic mammals, the net cost of transport of running river otters (6.63 J kg(-1)min(-1) at 1.43 ms(-1)) was greater than predicted for primarily terrestrial mammals. The otters also showed a marked reduction in gait transition speed and in the range of preferred running speeds in comparison to short dogs and semi-aquatic mammals. As evident from the corgi dogs, short legs did not necessarily compromise running performance. Rather, the ability to incorporate a period of suspension during high speed running was an important compensatory mechanism for short limbs in the dogs. Such an aerial period was not observed in river otters with the result that energetic costs during running were higher and gait transition speeds slower for this versatile mammal compared to locomotor specialists. PMID:12208295

  10. Short-term growth hormone treatment in children with Hurler syndrome after hematopoietic cell transplantation

    PubMed Central

    Polgreen, Lynda E.; Plog, Melissa; Schwender, James D.; Tolar, Jakub; Thomas, William; Orchard, Paul J.; Miller, Bradley S.; Petryk, Anna

    2011-01-01

    Summary Children with Hurler syndrome experience progressive growth failure after hematopoietic cell transplantation (HCT). The goal of this study was to review the safety and efficacy of growth hormone (GH) in eight children with Hurler syndrome who were treated at our institution with GH for short stature or GH deficiency between 2005 and 2008. The age at initiation of treatment with GH was 9.6 ± 2.3 years and time since HCT was 7.5 ± 1.5 years. Mean GH dose was 0.32 mg/kg/week. Baseline growth velocity was 3.5 ± 1.5 cm/yr (?2.6 ± 1.9 SDS) and increased to 5.2 ± 3.0 cm/yr (?0.1 ± 3.6 SDS) after 1 year of treatment. Of 6 patients with radiographic data there was 1 progression of scoliosis, 1 progression of kyphosis, and 1 progression of genu valgum. No patient discontinued treatment due to progression of skeletal disease. One patient discontinued GH due to slipped capital femoral epiphysis (SCFE). Preliminary data suggest that one year GH treatment may modestly improve growth velocity in children with Hurler syndrome. PMID:19252529

  11. [Diagnostic difficulties in Smith-Magenis Syndrome (SMS) on the basis of own experience and literature data].

    PubMed

    Stembalska, Agnieszka; Jakubiak, Aleksandra; ?migiel, Robert

    2012-01-01

    The Smith-Magenis syndrome (SMS) is a rare microdeletion dysmorphic syndrome (interstitial microdeletion of chromosome 17p11.2), which occurs sporadically. Mutations in the RAI1 gene are found in part of the patients. SMS is characterized by intellectual disability and behavioural disturbances (sleep disturbances, hyperactivity, attention deficit, self-injury behaviour), craniofacial dysmorphism and defects of other organs and systems (teeth, eyes and upper respiratory and hearing disturbances, short stature, brachydactyly, scoliosis, cardiac and genitourinary defects). There are also neurological problems (muscular hypotonia, peripheral neuropathy, epilepsy and decreased sensitivity to pain). Many of the features that appear in the SMS may occur in other genetic syndromes, which may cause diagnostic difficulties. We report two cases of late diagnosed patients with the Smith-Magenis syndrome. Additionally, we present a review of literature and differential diagnosis. This may help in making the diagnosis and in giving optimal medical and psychological care to patients with SMS. PMID:22971658

  12. 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.

  13. Complex short pulse and coupled complex short pulse equations

    NASA Astrophysics Data System (ADS)

    Feng, Bao-Feng

    2015-03-01

    In the present paper, we propose a complex short pulse equation and a coupled complex short equation to describe ultra-short pulse propagation in optical fibers. They are integrable due to the existence of Lax pairs and infinite number of conservation laws. Furthermore, we find their multi-soliton solutions in terms of pfaffians by virtue of Hirota's bilinear method. One- and two-soliton solutions are investigated in details, showing favorable properties in modeling ultra-short pulses with a few optical cycles. Especially, same as the coupled nonlinear Schrödinger equation, there is an interesting phenomenon of energy redistribution in soliton interactions. It is expected that, for the ultra-short pulses, the complex and coupled complex short pulses equation will play the same roles as the nonlinear Schrödinger equation and coupled nonlinear Schrödinger equation.

  14. Short-wave Diathermy

    PubMed Central

    1935-01-01

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

  15. 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…

  16. Statural growth in Williams-Beuren syndrome

    Microsoft Academic Search

    R. Pankau; C.-J. Partsch; A. Gosch; H. C. Oppermann; A. Wessel

    1992-01-01

    The spontaneous growth of 165 patients (75 girls and 90 boys) with Williams-Beuren syndrome was analysed in a mixed longitudinal and cross-sectional manner. Mean (±1 SD) length at birth was 48.2±2.6 cm in girls (n=52) and 49.0±3.0 cm in boys (n=65). Intrauterine growth retardation (length below ?2 SD of the normal population) was present in 35% of the girls and

  17. Indirect short-selling constraints 

    E-print Network

    Clunie, James Bruce

    2009-01-01

    In this thesis, I use two strategies of inquiry to further our understanding of indirect short-selling constraints. First, I interview a series of experienced market practitioners to identify their attitudes towards ...

  18. SOAP: short oligonucleotide alignment program

    Microsoft Academic Search

    Ruiqiang Li; Yingrui Li; Karsten Kristiansen; Jun Wang

    2008-01-01

    Summary: We have developed a program SOAP for efficient gapped and ungapped alignment of short oligonucleotides onto reference sequences. The program is designed to handle the huge amounts of short reads generated by parallel sequencing using the new generation Illumina-Solexa sequencing technology. SOAP is compa- tible with numerous applications, including single-read or pair-end resequencing, small RNA discovery and mRNA tag

  19. Magnet Coil Shorted Turn Detector

    SciTech Connect

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

    1994-03-01

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

  20. 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.

  1. 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

  2. Fundamentals of Microwave Superconductivity Short Course Tutorial

    E-print Network

    Anlage, Steven

    1 Fundamentals of Microwave Superconductivity Short Course Tutorial Superconductors and Cryogenics, and microwave measurements as background for the Short Course Tutorial "Superconductors and Cryogenics

  3. Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autism.

    PubMed

    Wang, Peter; Carrion, Prescilla; Qiao, Ying; Tyson, Christine; Hrynchak, Monica; Calli, Kristina; Lopez-Rangel, Elena; Andrieux, Joris; Delobel, Bruno; Duban-Bedu, Bénédicte; Thuresson, Ann-Charlotte; Annerén, Göran; Liu, Xudong; Rajcan-Separovic, Evica; Suzanne Lewis, M E

    2013-08-01

    Autism Spectrum Disorders (ASD) are complex neurodevelopmental conditions characterized by delays in social interactions and communication as well as displays of restrictive/repetitive interests. DNA copy number variants have been identified as a genomic susceptibility factor in ASDs and imply significant genetic heterogeneity. We report a 7-year-old female with ADOS-G and ADI-R confirmed autistic disorder harbouring a de novo 4 Mb duplication (18q12.1). Our subject displays severely deficient expressive language, stereotypic and repetitive behaviours, mild intellectual disability (ID), focal epilepsy, short stature and absence of significant dysmorphic features. Search of the PubMed literature and DECIPHER database identified 4 additional cases involving 18q12.1 associated with autism and/or ID that overlap our case: one duplication, two deletions and one balanced translocation. Notably, autism and ID are seen with genomic gain or loss at 18q12.1, plus epilepsy and short stature in duplication cases, and hypotonia and tall stature in deletion cases. No consistent dysmorphic features were noted amongst the reviewed cases. We review prospective ASD/ID candidate genes integral to 18q12.1, including those coding for the desmocollin/desmoglein cluster, ring finger proteins 125 and 138, trafficking protein particle complex 8 and dystrobrevin-alpha. The collective clinical and molecular features common to microduplication 18q12.1 suggest that dosage-sensitive, position or contiguous gene effects may be associated in the etiopathogenesis of this autism-ID-epilepsy syndrome. PMID:23727450

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

    SciTech Connect

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

    1994-09-01

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

  5. Short-term load forecasting

    Microsoft Academic Search

    G. Gross; F. D. Galiana

    1987-01-01

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

  6. 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.

  7. Electromagnetic neutrino: a short review

    E-print Network

    Alexander I. Studenikin

    2014-11-09

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

  8. SHORT REVIEW Butterfly genomics eclosing

    E-print Network

    Beldade, PatrĂ­cia

    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

  9. A Short Introduction to Boosting

    Microsoft Academic Search

    Yoav Freund; Robert E. Schapire

    1999-01-01

    Boosting is a general method for improving the accuracy of any given learning algorithm. This short overview paper introduces the boosting algorithm AdaBoost, and explains the un- derlying theory of boosting, including an explanation of why boosting often does not suffer from overfitting as well as boosting's relationship to support-vector machines. Some examples of recent applications of boosting are also

  10. University Policy Process Short Version

    E-print Network

    Mohanty, Saraju P.

    to communicate and train the university community on the proposed policy. 12. Post to website. UPO posts the newRev. 5/09 University Policy Process Short Version Conduct Analysis Draft Documents Get Approvals. Identify policy owner 3. Assemble team 4. Engage Stakeholders 5. Draft policy 6. Submit proposed policy

  11. Theodore J. Short, Jr. Comptroller

    E-print Network

    held numerous Budget Director positions, managing operations and maintenance, procurement, research and procedures; budgeting; procurement and personnel management. From June 2006 to May 2010, Mr. Short served and materiel. As the NAVAIR Comptroller, he is responsible for strategic budgeting, accounting and all

  12. Author's personal copy Short Paper

    E-print Network

    Nekola, Jeffrey C.

    Author's personal copy Short Paper Radiocarbon ages of terrestrial gastropods extend duration Creeks Bølling­Allerød Gastropods Radiocarbon Laurentide Ice Sheet Analysis of terrestrial gastropods by lacustrine and glacial de- posits (Fig. 1; Black, 1970). Previous 14 C dating and counting of growth rings

  13. Short Credentials 2014 Good Weekend

    E-print Network

    Peters, Richard

    Short Credentials 2014 #12;Good Weekend Advertising Contact Information Lauren McIntyre: 9282 1064 week Good Weekend offers advertisers the opportunity to connect with readers in a relaxed and open Weekend NSW /VIC. #When compared to the average NSW/VIC/ACT population.. **Mass women's or fashion

  14. Science Shorts: Going Through Changes

    NSDL National Science Digital Library

    Kathleen Damonte

    2004-10-01

    Earth's surface is always changing. Much of that change happens because of air, wind, water, and temperature differences. If you have ever observed mud and rocks being carried along by a stream of water after a heavy rain, you have observed the Earth being changed. This month's Science Shorts column investigates how the Earth changes through a process called erosion.

  15. 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

  16. 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

  17. 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

  18. Instructions for use [Short Communications

    E-print Network

    Tsunogai, Urumu

    ,2,3, and 4]. Porous asphalt in Kyoto Jukan Expressway has been maintenance free for fourteen yearsInstructions for use #12;1 [Short Communications] Evaluation methods for porous asphalt pavement-0842, JAPAN Tel/Fax: +81 11 882 4246 Key Words: Long Life Pavement, Porous asphalt, Evaluation method, Three

  19. Short Curriculum Vitae Robert Scheichl

    E-print Network

    Scheichl, Robert

    Short Curriculum Vitae Robert Scheichl Department of Mathematical Sciences University of Bath Bath, University of Bath, UK. · Jan 2001 ­ Jan 2002: Marie-Curie Fellowship, Institut Francais du Petrole, Paris, France. · Feb 2002 ­ Aug 2010: Lecturer in Applied Mathematics, University of Bath, UK. · Sep 2010 ­ Oct

  20. Short Curriculum Vitae Robert Scheichl

    E-print Network

    Burton, Geoffrey R.

    Short Curriculum Vitae Robert Scheichl Department of Mathematical Sciences University of Bath Bath, University of Bath, UK. · Jan 2001 ­ Jan 2002: Marie-Curie Fellowship, Institut Francais du Petrole, France. · Feb 2002 ­ Aug 2010: Lecturer in Applied Mathematics, University of Bath, UK. · Sep 2010 ­ Now: Senior

  1. AUTHOR'S PROOF! 3 SHORT NOTE

    E-print Network

    Segraves, Kari A.

    AUTHOR'S PROOF! U N C O R R EC TED PR O O F 1 2 3 SHORT NOTE 4 Mycorrhizal colonization it is known that a number of factors 11 have predictable effects on mycorrhizal colonization, deter- 12 mining yielded contradictory results. 16 Here, we assess the impact of fire on mycorrhizal coloniza- 17 tion

  2. A Short Selection of Advertisements

    NSDL National Science Digital Library

    Stuart Boersma

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

  3. short Course 50th Annual

    E-print Network

    Aukema, Brian

    or touching other tree canopies on your boulevards. Fifty years ago, a few of you were just beginning your that certifies our competencies as urban forest and tree managers. One constant has been the annual MinnesotaMinnesota shade tree short Course 50th Annual March 20-21, 2012 Bethel University, Arden Hills

  4. Short wavelength chemical laser development

    NASA Astrophysics Data System (ADS)

    Patterson, S. P.; Duncan, W. A.; Graves, B. R.; Perram, Glen; Jones, C. R.

    1992-07-01

    Short wavelength chemical lasers (SWCL) operating in the near infrared are becoming candidates for strategic missions. Chemical lasers which operate at short wavelengths at or near the visible are discussed. These lasers offer potential brightness enhancements which will be required for future high energy laser systems. Recent progress in basic research and efforts to demonstrate lasing are reviewed. Several systems are described and a critique of recent reports of chemically generated gain in the BiF(A-x) and Na2(B-x) systems is presented. New chemistries for providing singlet electronic states of NF and NCl from halogen azides provide new opportunities for energy extraction schemes based on energy pooling. A new concept for utilizing vibrational excitation in the lasant species to enhance the excitation rate for iodine monofluoride and the development of new facilities for laser demonstration efforts are discussed.

  5. What Is Energy? Short Demos

    NSDL National Science Digital Library

    2014-09-18

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

  6. Pestis Atreus - A Short Oratorio

    E-print Network

    Bondari, Brian

    2009-06-05

    ś ś ś 3 ? ? ? ? ? ? ? ? ś ś - ś ś - ś ś - 3 j ś ś ‰Ś Ó ? ? ? ? ? w w ? I. M E N E L A O S Brian Bondari (ASCAP) Copyright © 2009 by Brian Bondari Score "In that dark dawn of days before...." & & & & & & ? & & & ? ? ? ÷ ÷ & ? & & V ? & & B ? ? ? Picc...Pestis Atreus: A Short Oratorio By Brian Bijan Bondari B. Mus., Valdosta State University, 2003 M. Mus., University of Kansas, 2006 © 2009 Brian Bijan Bondari Submitted to the Department of Music and Dance and the Faculty of the Graduate School...

  7. 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.

  8. 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

  9. 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.

  10. 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.

  11. 18 CFR 415.1 - Short title.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ...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...

  12. 18 CFR 415.1 - Short title.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ...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...

  13. 18 CFR 415.1 - Short title.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ...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...

  14. 18 CFR 415.1 - Short title.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ...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...

  15. 18 CFR 415.1 - Short title.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ...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...

  16. Online Short Course: Gravity and Orbits

    NSDL National Science Digital Library

    1900-01-01

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

  17. Errors In Short Distance Photometry

    NASA Astrophysics Data System (ADS)

    Holmes, J. G.; Moermann, J. J. B.

    1982-02-01

    The errors involved in the short-distance photometry of projectors are evaluated and the same conclusions have been shown to apply to general purpose luminaires. The mathematical analysis from which the equations were derived has been published in Lighting Research and Technology (1981). The illuminance at a short distance from the projector does not follow the inverse square law; the errors depend on the angular subtense of the aperture of the projector relative to the divergence of the beam, and on the distribution of luminance across the aperture of the projector. At any particular distance, the errors are least in directions in which the curvature of the intensity distribution curve is least; the errors may therefore be greatest in the axial direction or in the direction of a shoulder on the curve, and they may change sign where the intensity distribution curve changes from convex to concave. In any particular direction, the error is greater if the outer zones of the projector have higher luminance or give a narrower relative spread; the worst case is a ring-shaped luminaire. If the relative error is less than 10 per cent, it is inversely proportional to the square of the distance of measurement. For general guidance, a nomogram relates the maximum likely percentage error to the beam divergence and to the relative distance of measurement; an empirical reference distance, to be known as the Beam Cross-over Distance, is suggested to replace the traditional 'cross-over distance' of a projector.

  18. 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.

  19. SHORT-TUBE SUBCRITICAL FLOW Enerag Division

    E-print Network

    Oak Ridge National Laboratory

    flow rate. Figure 1 shows the test results of one of the short tubes with L/D = 7.5. It indi- cates subcooling, the higher the mass flow rates. Figure 2 confirms that with one of the short tube tests results#12;SHORT-TUBE SUBCRITICAL FLOW Y. C. Mei Enerag Division Oak Ridge National Laboratory Oak Ridge

  20. Texas Watershed Planning Short Course Final Report

    E-print Network

    Wagner, Kevin

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

  1. Genetics Home Reference: Neonatal onset multisystem inflammatory disease

    MedlinePLUS

    ... Cryopyrin belongs to a family of proteins called nucleotide-binding domain and leucine-rich repeat containing (NLR) ... leucine ; meninges ; mutation ; neonatal ; nervous system ; neurologic ; neurological ; nucleotide ; protein ; short stature ; stature ; syndrome ; tissue ; white blood ...

  2. Genetics Home Reference: Mevalonate kinase deficiency

    MedlinePLUS

    ... Steroid hormones are needed for normal development and reproduction, and bile acids are used to digest fats. ... inherited ; injury ; joint ; kidney ; kinase ; lymph ; protein ; recessive ; reproduction ; sclera ; short stature ; stature ; stress ; surgery ; syndrome ; uveitis ...

  3. Genetics Home Reference: 1q21.1 microdeletion

    MedlinePLUS

    ... 1 region may also be risk factors for schizophrenia. Some people with a 1q21.1 microdeletion do ... neurological ; palate ; penetrance ; philtrum ; reproductive cells ; risk factors ; schizophrenia ; short stature ; spectrum ; sperm ; stature ; syndrome ; thrombocytopenia You ...

  4. 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 ; ...

  5. 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 ...

  6. Genetics Home Reference: Baraitser-Winter syndrome

    MedlinePLUS

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

  7. Genetics Home Reference: Prader-Willi syndrome

    MedlinePLUS

    ... functions, including helping to regulate other types of RNA molecules. (RNA molecules play essential roles in producing proteins and ... mutation ; overeating ; pigmentation ; protein ; puberty ; rearrangement ; reproductive cells ; RNA ; short stature ; sperm ; stature ; syndrome ; translocation ; uniparental disomy ...

  8. Genetics Home Reference: Shwachman-Diamond syndrome

    MedlinePLUS

    ... SBDS protein may play a role in processing RNA (a molecule that is a chemical cousin of ... oxygen ; pancreas ; pancreatic ; platelets ; pneumonia ; protein ; recessive ; ribosomes ; RNA ; short stature ; stature ; steatorrhea ; syndrome ; thrombocytopenia ; tissue ; white ...

  9. 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.

  10. Science Shorts: Energy in Motion

    NSDL National Science Digital Library

    Barbara Adams

    2007-03-01

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

  11. Magnetic Resonance at Short Distances

    SciTech Connect

    Crater, H. W. [University of Tennessee Space Institute; Wong, Cheuk-Yin [ORNL

    2012-01-01

    The magnetic interactions between a fermion and an antifermion of opposite electric or color charges in the $^{1}S_{0}^{-+}$ and $^{3}P_{0}^{++}$ states with $J=0$ are very attractive and singular near the origin and may allow the formation of new bound and resonance states at short distances. In the two body Dirac equations formulated in constraint dynamics, the short-distance attraction for these states for point particles leads to a quasipotential that behaves near the origin as $-\\alpha ^{2}/r^{2}$, where $ \\alpha $ is the coupling constant. Representing this quasipotential at short distances as $\\lambda (\\lambda +1)/r^{2}$ with $\\lambda =(-1+\\sqrt{1-4\\alpha ^{2}})/2$, both $^{1}S_{0}^{-+}$ and $^{3}P_{0}^{++}$ states admit two types of eigenstates with drastically different behaviors for the radial wave function $u=r\\psi $. One type of states, with $u$ growing as $r^{\\lambda +1}$ at small $r$, will be called usual states. The other type of states with $u$ growing as $r^{-\\lambda }$ will be called peculiar states. Both of the usual and peculiar eigenstates have admissible behaviors at short distances. Remarkably, the solutions for both sets of $^{1}S_{0}$ states can be written out analytically. The usual bound $^{1}S_{0}$ states possess attributes the same as those one usually encounters in QED and QCD, with bound state energies explicitly agreeing with the standard perturbative results through order $\\alpha ^{4}$. In contrast, the peculiar bound $^{1}S_{0}$ states, yet to be observed, not only have different behaviors at the origin, but also distinctly different bound state properties (and scattering phase shifts). For the peculiar $^{1}S_{0}$ ground state of fermion-antifermion pair with fermion rest mass $m$, the root-mean-square radius is approximately $1/m$, binding energy is approximately $(2-\\sqrt{2})m$, and rest mass approximately $\\sqrt{2}m$. On the other hand, the $(n+1)$${}^{1}S_{0}$ peculiar state with principal quantum number $(n+1)$ is nearly degenerate in energy and approximately equal in size with the $n$$^{1}S_{0}$ usual states. For the $ {}^{3}P_{0}$ states, the usual solutions lead to the standard bound state energies and no resonance, but resonances have been found for the peculiar states whose energies depend on the description of the internal structure of the charges, the mass of the constituent, and the coupling constant. The existence of both usual and peculiar eigenstates in the same system leads to the non-self-adjoint property of the mass operator and two non-orthogonal complete sets. As both sets of states are physically admissible, the mass operator can be made self-adjoint with a single complete set of admissible states by introducing a new peculiarity quantum number and an enlarged Hilbert space that contains both the usual and peculiar states in different peculiarity sectors. Whether or not these newly-uncovered quantum-mechanically acceptable peculiar $^{1}S_{0}$ bound states and $^{3}P_{0}$ resonances for point fermion-antifermion systems correspond to physical states remains to be further investigated.

  12. Independent Lens Online Shorts Festival

    NSDL National Science Digital Library

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

  13. Short-Lived Climate Pollution

    NASA Astrophysics Data System (ADS)

    Pierrehumbert, R. T.

    2014-05-01

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

  14. 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.

  15. A secure short message communication protocol

    Microsoft Academic Search

    Chao-Wen Chang; Heng Pan; Hong-Yong Jia

    2008-01-01

    According to the security requirement of the short message service (SMS) industry application, a secure short message communication\\u000a protocol is proposed. This is an application level protocol constructed on the standard SMS communication protocol using public\\u000a key authentication and key agreement without the need of wireless public key infrastructure (WPKI). Secure short message transmission\\u000a and dynamic key agreement between mobile

  16. 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.

  17. Short-term intercultural psychotherapy: ethnographic inquiry.

    PubMed

    Seeley, Karen M

    2004-01-01

    This article examines the challenges specific to short-term intercultural treatments and recently developed approaches to intercultural treatments based on notions of cultural knowledge and cultural competence. The article introduces alternative approaches to short-term intercultural treatments based on ethnographic inquiry adapted for clinical practice. Such approaches allow clinicians conducting short-term intercultural treatments to foreground clients' indigenous conceptions of selfhood, mind, relationship, and emotional disturbance, and thus to more fully grasp their internal, interpersonal, and external worlds. This article demonstrates the uses of clinically adapted ethnographic inquiry in three short-term intercultural cases. PMID:14964524

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

    PubMed

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

    2015-01-01

    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

  19. Pubertal Growth of the Short Normal Girl

    Microsoft Academic Search

    J. Mulligan; B. J. R. Bailey; L. D. Voss; P. R. Betts

    1999-01-01

    Objectives: To determine the timing, magnitude and duration of the pubertal spurt for short normal and average height girls, to compare these with Tanner’s standard and to investigate predictors of pubertal growth. Methods: The growth of 46 short normal and 55 control girls, identified at school entry, was monitored throughout puberty. Height and weight were measured at 6-month intervals from

  20. WHICH SHORTS ARE INFORMED? Ekkehart Boehmer

    E-print Network

    Kearns, Michael

    . Jones Graduate School of Business Columbia University Xiaoyan Zhang Johnson Graduate SchoolWHICH SHORTS ARE INFORMED? Ekkehart Boehmer Mays Business School Texas A&M University Charles M to more efficient stock prices. #12;WHICH SHORTS ARE INFORMED? A number of theoretical models, beginning

  1. Shorting pipeline and jacket cathodic protection systems

    Microsoft Academic Search

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

    1993-01-01

    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

  2. Short-term instability in stochastic systems

    Microsoft Academic Search

    M. F. Dimentberg; A. Hera; A. Naess

    Dynamic systems with lumped parameters which experience random temporal variations are considered in this paper. These variations may lead to “short-term” dynamic instability that is reflected in the system’s response as alternating periods of zero or almost zero response and rare short outbreaks. As long as it may be impractical to preclude completely such outbreaks for a designed system, the

  3. The Short Story as HyperStory.

    ERIC Educational Resources Information Center

    May, Charles E.

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

  4. The Demonstration of Short-Term Consolidation.

    ERIC Educational Resources Information Center

    Jolicoeur, Pierre; Dell'Acqua, Roberto

    1998-01-01

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

  5. 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.

  6. Growth hormone therapy in Turner syndrome.

    PubMed

    Davenport, Marsha L

    2012-05-01

    Short stature is the single most common physical abnormality in Turner syndrome (TS) with adult stature averaging 20 cm shorter than that of the general population. Randomized, placebo-controlled studies to final adult height have proven that GH therapy is effective in increasing stature in TS. Recently, randomized, controlled studies have demonstrated that adjunctive therapies with low-dose estrogen or low-dose oxandrolone enhance stature further. These therapies may provide benefits beyond height augmentation. PMID:22946284

  7. Short communication Diffusion of carbon in austenite

    E-print Network

    Cambridge, University of

    carbon concentration gradients at the transformation interfacesinvolved in suchreactionsmakesit. In a concentration gradient, a carbon atom attempting random motion therefore 'sees'an exaggerated differenceinShort communication Diffusion of carbon in austenite H. K. D. H. Bhadeshia The concentration

  8. Short distance asymptotics of Ising correlations

    NASA Astrophysics Data System (ADS)

    Palmer, John

    2002-02-01

    We prove that the short distance asymptotics for the even Ising model scaling functions from below Tc is given by the Luther-Peschel formula. Generalizations to the odd scaling functions and holonomic fields are given.

  9. Analyzing Short-Term Disability Benefits.

    ERIC Educational Resources Information Center

    Houff, James N.; Wiatrowski, William J.

    1989-01-01

    The Bureau of Labour Statistics has combined data on sick leave and sickness and accident insurance. Results show that short-term disability benefits vary by length of service and between the private and public sectors. (Author)

  10. Genetics Home Reference: Short QT syndrome

    MedlinePLUS

    ... instructions for making channels that transport positively charged atoms (ions) of potassium out of cells. In cardiac ... the disorder. Some affected individuals have a family history of short QT syndrome or related heart problems ...

  11. Microbial production of short chain diols.

    PubMed

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

    2014-12-10

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

  12. Short-hard gamma-ray bursts

    Microsoft Academic Search

    Ehud Nakar

    2007-01-01

    Two types of gamma-ray bursts (GRBs) are observed: short-duration hard spectrum GRBs and long-duration soft spectrum GRBs. For many years long GRBs were the focus of intense research while the lack of observational data limited the study of short-hard GRBs (SHBs). In 2005 a breakthrough occurred following the first detections of SHB afterglows, longer wavelength emission that follows the burst

  13. Observations of short gamma-ray bursts

    Microsoft Academic Search

    Derek B. Fox; Peter W. A. Roming

    2007-01-01

    We review recent observations of short-hard gamma-ray bursts and their afterglows. The launch and successful ongoing operations of the Swift satellite, along with several localizations from the High-Energy Transient Explorer mission, have provoked a revolution in short-burst studies: first, by quickly providing high-quality positions to observers; and second, via rapid and sustained observations from the Swift satellite itself. We make

  14. Boosting Salt Resistance of Short Antimicrobial Peptides

    PubMed Central

    Chu, Hung-Lun; Yu, Hui-Yuan; Yip, Bak-Sau; Chih, Ya-Han; Liang, Chong-Wen; Cheng, Hsi-Tsung

    2013-01-01

    The efficacies of many antimicrobial peptides are greatly reduced under high salt concentrations, therefore limiting their use as pharmaceutical agents. Here, we describe a strategy to boost salt resistance and serum stability of short antimicrobial peptides by adding the nonnatural bulky amino acid ?-naphthylalanine to their termini. The activities of the short salt-sensitive tryptophan-rich peptide S1 were diminished at high salt concentrations, whereas the activities of its ?-naphthylalanine end-tagged variants were less affected. PMID:23716061

  15. MLL2 and KDM6A mutations in patients with Kabuki syndrome.

    PubMed

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

    2013-09-01

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

  16. Observations of short gamma-ray bursts.

    PubMed

    Fox, Derek B; Roming, Peter W A

    2007-05-15

    We review recent observations of short-hard gamma-ray bursts and their afterglows. The launch and successful ongoing operations of the Swift satellite, along with several localizations from the High-Energy Transient Explorer mission, have provoked a revolution in short-burst studies: first, by quickly providing high-quality positions to observers; and second, via rapid and sustained observations from the Swift satellite itself. We make a complete accounting of Swift-era short-burst localizations and proposed host galaxies, and discuss the implications of these observations for the distances, energetics and environments of short bursts, and the nature of their progenitors. We then review the physical modelling of short-burst afterglows: while the simplest afterglow models are inadequate to explain the observations, there have been several notable successes. Finally, we address the case of an unusual burst that threatens to upset the simple picture in which long bursts are due to the deaths of massive stars, and short bursts to compact-object merger events. PMID:17293336

  17. 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...

  18. 19 CFR 207.27 - Short life cycle products.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

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

  19. 19 CFR 207.27 - Short life cycle products.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

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

  20. 19 CFR 207.27 - Short life cycle products.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

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

  1. 19 CFR 207.27 - Short life cycle products.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

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

  2. 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...

  3. 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...

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

    E-print Network

    Efendi, Jap

    2005-11-01

    This dissertation investigates whether short sellers establish short positions prior to accounting restatement announcements and whether the levels of short interest are related to the severity of restatements. Using 565 firms with restatement...

  5. 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...

  6. Short Telomeres Compromise ?-Cell Signaling and Survival

    PubMed Central

    Guo, Nini; Parry, Erin M.; Li, Luo-Sheng; Kembou, Frant; Lauder, Naudia; Hussain, Mehboob A.; Berggren, Per-Olof; Armanios, Mary

    2011-01-01

    The genetic factors that underlie the increasing incidence of diabetes with age are poorly understood. We examined whether telomere length, which is inherited and known to shorten with age, plays a role in the age-dependent increased incidence of diabetes. We show that in mice with short telomeres, insulin secretion is impaired and leads to glucose intolerance despite the presence of an intact ?-cell mass. In ex vivo studies, short telomeres induced cell-autonomous defects in ?-cells including reduced mitochondrial membrane hyperpolarization and Ca2+ influx which limited insulin release. To examine the mechanism, we looked for evidence of apoptosis but found no baseline increase in ?-cells with short telomeres. However, there was evidence of all the hallmarks of senescence including slower proliferation of ?-cells and accumulation of p16INK4a. Specifically, we identified gene expression changes in pathways which are essential for Ca2+-mediated exocytosis. We also show that telomere length is additive to the damaging effect of endoplasmic reticulum stress which occurs in the late stages of type 2 diabetes. This additive effect manifests as more severe hyperglycemia in Akita mice with short telomeres which had a profound loss of ?-cell mass and increased ?-cell apoptosis. Our data indicate that short telomeres can affect ?-cell metabolism even in the presence of intact ?-cell number, thus identifying a novel mechanism of telomere-mediated disease. They implicate telomere length as a determinant of ?-cell function and diabetes pathogenesis. PMID:21423765

  7. 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.

  8. Short-Duration Gamma-Ray Bursts

    NASA Astrophysics Data System (ADS)

    Berger, Edo

    2014-08-01

    Gamma-ray bursts (GRBs) display a bimodal duration distribution with a separation between the short- and long-duration bursts at about 2 s. The progenitors of long GRBs have been identified as massive stars based on their association with Type Ic core-collapse supernovae (SNe), their exclusive location in star-forming galaxies, and their strong correlation with bright UV regions within their host galaxies. Short GRBs have long been suspected on theoretical grounds to arise from compact object binary mergers (neutron star-neutron star or neutron star-black hole). The discovery of short GRB afterglows in 2005 provided the first insight into their energy scale and environments, as well as established a cosmological origin, a mix of host-galaxy types, and an absence of associated SNe. In this review, I summarize nearly a decade of short GRB afterglow and host-galaxy observations and use this information to shed light on the nature and properties of their progenitors, the energy scale and collimation of the relativistic outflow, and the properties of the circumburst environments. The preponderance of the evidence points to compact object binary progenitors, although some open questions remain. On the basis of this association, observations of short GRBs and their afterglows can shed light on the on- and off-axis electromagnetic counterparts of gravitational wave sources from the Advanced LIGO/Virgo experiments.

  9. 47 CFR 90.371 - Dedicated short range communications service.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ...false Dedicated short range communications service. 90.371 Section...Telecommunication FEDERAL COMMUNICATIONS COMMISSION (CONTINUED) ...for Dedicated Short-Range Communications Service (dsrcs) §...

  10. 47 CFR 90.371 - Dedicated short range communications service.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ...false Dedicated short range communications service. 90.371 Section...Telecommunication FEDERAL COMMUNICATIONS COMMISSION (CONTINUED) ...for Dedicated Short-Range Communications Service (dsrcs) §...

  11. 47 CFR 90.371 - Dedicated short range communications service.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ...false Dedicated short range communications service. 90.371 Section...Telecommunication FEDERAL COMMUNICATIONS COMMISSION (CONTINUED) ...for Dedicated Short-Range Communications Service (dsrcs) §...

  12. 47 CFR 90.371 - Dedicated short range communications service.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ...false Dedicated short range communications service. 90.371 Section...Telecommunication FEDERAL COMMUNICATIONS COMMISSION (CONTINUED) ...for Dedicated Short-Range Communications Service (dsrcs) §...

  13. Short-term energy outlook: Methodology

    NASA Astrophysics Data System (ADS)

    Cornett, C.; Paxson, D.; Reznek, A. P.; Chu, C.; Sitzer, S.; Gamson, N.; Childress, J. P.; Paul, S.; Weigel, H.; Sutton, S.

    1981-05-01

    Detailed discussions of forecasting methodology and analytical topics concerning short-term energy markets are presented. Major assumptions necessary to make the energy forecasts are also discussed. Supplementary analyses of topics related to short-term energy forecasting are also given. The discussions relate to the forecasts prepared using the short term integrated forecasting system. This set of computer models uses data from various sources to develop energy supply and demand balances. Econmetric models used to predict the demand for petroleum products, natural gas, coal, and electricity are discussed. Price prediction models are also discussed. The role of oil inventories in world oil markets is reviewed. Various relationship between weather patterns and energy consumption are discussed.

  14. The origin of short-period comets

    SciTech Connect

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

    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.

  15. 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…

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

    E-print Network

    Zhigilei, Leonid V.

    Mechanisms of small clusters production by short and ultra-short laser ablation Tatiana E. Itina a The mechanisms involved into the formation of clusters by pulsed laser ablation are studied both numerically ablation: (i) direct cluster ejection upon the laser-material interaction, and (ii) collisional sticking

  17. Rotating black holes can have short bristles

    NASA Astrophysics Data System (ADS)

    Hod, Shahar

    2014-12-01

    The elegant 'no short hair' theorem states that, if a spherically-symmetric static black hole has hair, then this hair must extend beyond 3/2 the horizon radius. In the present paper we provide evidence for the failure of this theorem beyond the regime of spherically-symmetric static black holes. In particular, we show that rotating black holes can support extremely short-range stationary scalar configurations (linearized scalar 'clouds') in their exterior regions. To that end, we solve analytically the Klein-Gordon-Kerr-Newman wave equation for a linearized massive scalar field in the regime of large scalar masses.

  18. Short and long waves in the cochlea.

    PubMed

    de Boer, E

    1980-06-01

    Mathematically, it is attractive to model cochlear dynamics as a one-dimensional problem. This implies the hypothesis that the (smallest) wavelength is large compared to the cross-section of the cochlear channels. It is suspected that this hypothesis is not justified at and near the place where the wavelength is smallest. For several types of model the response is computed with due allowance for short waves. The results show that in the pertinent region short waves completely dominate the response. Several consequences of this finding are discussed. PMID:7410251

  19. Catalysts for synthesizing various short chain hydrocarbons

    DOEpatents

    Colmenares, Carlos (Alamo, CA)

    1991-01-01

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

  20. Heating Augmentation for Short Hypersonic Protuberances

    NASA Technical Reports Server (NTRS)

    Mazaheri, Alireza R.; Wood, William A.

    2008-01-01

    Computational aeroheating analyses of the Space Shuttle Orbiter plug repair models are validated against data collected in the Calspan University of Buffalo Research Center (CUBRC) 48 inch shock tunnel. The comparison shows that the average difference between computed heat transfer results and the data is about 9:5%. Using CFD and Wind Tunnel (WT) data, an empirical correlation for estimating heating augmentation on short hyper- sonic protuberances (k/delta < 0.33) is proposed. This proposed correlation is compared with several computed flight simulation cases and good agreement is achieved. Accordingly, this correlation is proposed for further investigation on other short hypersonic protuberances for estimating heating augmentation.

  1. Heating Augmentation for Short Hypersonic Protuberances

    NASA Technical Reports Server (NTRS)

    Mazaheri, Ali R.; Wood, William A.

    2008-01-01

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

  2. 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

  3. Short term prediction of optical turbulence parameters

    NASA Astrophysics Data System (ADS)

    Brown, James H.; Grossbard, Neil J.

    1988-01-01

    Predictor analysis techniques were applied to time series data of optical turbulence parameters. Global models, developed for the long-term prediction of the isoplanatic angle and coherence length, showed low frequency sinusoidal rhythm with peaks centered near atmospheric neutral events. Weak temportal stationary and short-term correlation existed in the data, and a linear prediction technique provided good to moderate prediction of the isoplanatic angle from 5 to 40 minutes ahead. Short-term prediction of the coherence length and to some extent of the isoplanatic angle was improved by separating the predictor set into midday and midnight groups.

  4. 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

  5. Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.

    PubMed

    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

    2013-10-01

    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

  6. Asian Short Fiction. Asian Studies Instructional Module.

    ERIC Educational Resources Information Center

    Waugh, Susan

    This curriculum outline introduces the components of a course which explores the genre of short novels, including works by twentieth-century Japanese and Chinese authors. First, the catalogue course description and required texts are presented, highlighting the instructor's historical introduction to the development of Western, Japanese, and…

  7. Using Ambients to Control Resources (short abstract)

    E-print Network

    Teller, David

    Using Ambients to Control Resources (short abstract) David Teller 1 , Pascal Zimmer 2 , and Daniel several kinds of attacks. In this paper, we develop an extension of the calculus of Mobile Ambients, named Controlled Ambients, that is suited for expressing such issues, speci#12;cally Denial of Service attacks. We

  8. Nonperturbative short-range dynamics in TMDs

    SciTech Connect

    Weiss, Christian [JLAB

    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.

  9. Homopolar Generator Effect of Sudden Short Circuit

    Microsoft Academic Search

    AMULYA K. DAS GUPTA

    1968-01-01

    The effect of a sudden short circuit on a homopolar generator is analyzed and the transient time constant is deduced. The effect of nonuniform air gap flux is considered. It is shown that the time constant of a machine with a very small air gap and thick cylinder is quite large, while the time constant of a thin cylinder machine

  10. LE JOURNAL DE PHYSIQUE Short communication

    E-print Network

    Paris-Sud XI, Université de

    885 LE JOURNAL DE PHYSIQUE Short communication Doppler - free spectroscopy and isotopic shift.2 nm, on the Mg I resonance line [3S2 'So - 3s3p'PO] as well as a new measure- ment of the isotopic magne- sium presents three isotopic species 24Mg, 25mg, 26Mg, with respective proportions 78.6 % , 10

  11. The short straight sections for the LHC

    Microsoft Academic Search

    Theodor Tortschanoff; Vittorio Parma; P. Rohmig; M. Peyrot; J. M. Rifflet; P. Védrine; D. Vincent

    1997-01-01

    During more than five years a close collaboration between CERN and CEA-Saclay led to the development and construction of two prototype quadrupole magnets and the integration of one of them into the short straight section of the LHC half-cell test string at CERN. In the frame of the special host country contribution to the LHC project this collaboration has been

  12. 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 ...

  13. Spanish: Familiarization and Short-Term Training.

    ERIC Educational Resources Information Center

    Arbelaez, Vicente; And Others

    The State Department's Foreign Service Institute short-term, intensive course in Spanish language and culture for government employees going to work in Spanish-speaking countries contains an introductory section and 38 lessons and 10 related audio cassettes intended as the basis for a ten-week program with an instructor. The lessons cover these…

  14. Short spirals on the shape sphere

    NASA Astrophysics Data System (ADS)

    Georgiev, G. H.

    2012-10-01

    Spirals have many applications in mathematics, physics and industry. The set of all spirals leaves invariant under an arbitrary similarity transformation. A class of short spirals in the plane has been recently introduced. The most general definition of a short spiral is due to A. Kurnosenko. The simplicial shape space of order (2,3) is the set of equivalence classes of similar triangles in the plane. In 1984, D. Kendall introduced the first model of this quotient space, so-called the shape sphere. Later, H. Bookstein, J. Lester, H. Nakamura and K. Oguiso obtained that the one-point extension of the Euclidean plane is another model of the same simplicial shape space . The present paper gives an application of a natural conformal mapping between two models. First, we discuss the local properties of the short spirals in terms of one differential invariant called shape curvature. Second, we obtain parametric curves on the shape sphere which correspond to the short spirals in the plane.

  15. Vaccine 20 (2002) 36 Short communication

    E-print Network

    Vaccine 20 (2002) 3­6 Short communication Effector cytotoxic T lymphocyte numbers induced by vaccination should exceed levels in chronic infection for protection from HIV Hester Korthals Altesa,, David A with a variety of vaccine formulations and delivery systems. However, the conditions required for a CTL

  16. 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…

  17. SHORT REVIEW Ecological genomics: understanding gene and

    E-print Network

    Kaufman, Glennis A.

    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

  18. Short Stay Summary Report, Spring 2003.

    ERIC Educational Resources Information Center

    Okanagan Coll., Kelowan (British Columbia).

    This 2003 study was designed to collect data on the outcomes of short stay students, or former students who leave British Columbia's colleges, university colleges, and institutes after completing between 9 and 23 credits. Out of 2,273 former students eligible for surveying, 871 completed the survey, for a response rate of 38%. The survey collected…

  19. Short single axioms for boolean algebra.

    SciTech Connect

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

    2002-01-01

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

  20. Physician Supply Behavior in the Short Run

    ERIC Educational Resources Information Center

    Sloan, Frank A.

    1975-01-01

    This study analyzes determinants of two dimensions of the supply of physicians' services: the number of hours physicians work per week and the number of weeks they work per year. Data indicate that physician supply in the short run is affected by physician's nonprofessional income, age, sex, and employment situation. (Author/JB)

  1. Hybridization Screening of Very Short PCR

    E-print Network

    Hybridization Screening of Very Short PCR Products for Paleoepi- demiological Studies of Chagas the kinetoplast of Try- panosoma cruzi, the infectious agent of Chagas' disease (American Trypanosomia- sis and report here is part of our major paleoepidemio- logical study of Chagas' disease (Amer- ican

  2. A MEMS based shorted spiral antenna

    Microsoft Academic Search

    A. Mehta; D. Mirshekar-Syahkal; H. Nakano

    2006-01-01

    Recently, a single-arm rectangular spiral antenna with a switching network is proposed by the authors for switched beam applications. A spiral configuration using four shorting switches for both single- and multi-point switching is investigated in A. Mehta et a. (2005) where characteristics of sixteen possible switching cases are outlined. In this paper for the first time, both MEMS and hard

  3. Empirical Software Engineering in Industry Short Courses

    E-print Network

    Janzen, David

    Empirical Software Engineering in Industry Short Courses David Janzen, Clark Turner California-Breaking News · Conclusions #12;Evidence-Based Software Engineering (EBSE) · Promises: ­ Demonstrate studies ­ Students less mature than professionals ­ Contrived application domains ­ Smaller project

  4. SHORT-RUN MONEY DEMAND Laurence Ball

    E-print Network

    Niebur, Ernst

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

  5. Short Communication Concurrent correction method for modeling

    E-print Network

    Kirby, James T.

    Short Communication Concurrent correction method for modeling morphological response to dredging the morphological impact of an offshore dredging pit using a process-based model, the hydrodynamic conditions, often with the initial bathymetry profile before dredging. This lack of equilibrium causes a fast profile adjustment

  6. Bibliography of short wavelength chemical laser research

    Microsoft Academic Search

    Glen P. Perram

    1993-01-01

    High power short wavelength chemical laser (SWCL) systems offer great advantages for strategic and tactical military applications, including both weapons and imaging missions. The promise of very high brightness, high mass efficiency, and wavelength agility has justified a modest basic research program for more than a decade. Significant progress towards the demonstration of a visible chemical laser has been made

  7. 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…

  8. The Identity Management Problem --A Short Survey

    E-print Network

    Guibas, Leonidas J.

    The Identity Management Problem -- A Short Survey Leonidas J. Guibas Computer Science Department Stanford University Stanford, CA 94305, U.S.A. Email: guibas@cs.stanford.edu Abstract--The identity and target identities, based on observations made by sen- sors. Updates of the belief state can happen

  9. Fisheries Research 63 (2003) 275282 Short communication

    E-print Network

    Cooke, Steven J.

    study using larger species of fish that are commonly landed using these gear types. © 2003 Elsevier; Gear effects 1. Introduction Landing nets are commonly used by recreational anglers to aidFisheries Research 63 (2003) 275­282 Short communication Effects of landing net mesh type on injury

  10. Truancy: Short and Long-Term Solutions.

    ERIC Educational Resources Information Center

    Reid, Ken

    This book offers guidance on dealing with the problem of truancy and non-attendance. It provides examples of the latest ways that schools, teachers, education welfare officers, and local education authorities in the United Kingdom have worked to overcome their attendance problems, identifying 120 short-term solutions and several long-term…

  11. Industry Report Technology for Short-Range

    E-print Network

    Han, Richard Y.

    Industry Report Bluetooth: Technology for Short-Range WirelessApps H andheld devices are rapidly, and the small size makes it easy to embed Bluetooth chips in devices such as cell phones and PDAs. A Bluetooth, and laptop computer with them. In most cases, these devices do not have compatible data communication

  12. LE JOURNAL DE PHYSIQUE Short communication

    E-print Network

    Boyer, Edmond

    cooled down to room temperature in 20 hours. The crystals are extracted from a compact surrounding1815 LE JOURNAL DE PHYSIQUE Short communication Coexistence of superconductivity (Tc= 55 K coexists with superconductivity. The oxygen content has been determined by a complete neutron diffraction

  13. Video Production For Short Educational Videos

    E-print Network

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

  14. Intercultural Learning on Short-Term Sojourns

    ERIC Educational Resources Information Center

    Jackson, Jane

    2009-01-01

    This paper presents an ethnographic case study of advanced second language (L2) students from Hong Kong who took part in a short-term sojourn in England after 14 weeks of preparation. While abroad, they lived with a host family, took literary/cultural studies courses, visited cultural sites, participated in debriefing sessions, and conducted…

  15. 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)

  16. Short Communication Microscopic analysis of structure stabilities

    E-print Network

    Boyer, Edmond

    2005 Short Communication Microscopic analysis of structure stabilities in the ionic compounds B an analysis of the relative stability of two structural phases in an ionic compound at zero temperature a given ionic compound cristallizes in one structure rather than in another one [1] . But only recently

  17. Library Services: Library Shorts Avoiding plagiarism

    E-print Network

    Bandara, Arosha

    to the guidance on the Library website which told me how to use the correct style when referencing my sourcesLibrary Services: Library Shorts Avoiding plagiarism My tutor said I was showing signs of serious was some kind of nasty skin condition. I had hoped they might prescribe me a cream, but it turned out I

  18. SHORT COMMUNICATION FIRST REPORTED SETTLEMENT OF ZEBRA

    E-print Network

    McCarthy, T.K.

    SHORT COMMUNICATION FIRST REPORTED SETTLEMENT OF ZEBRA MUSSELS DREISSENA POLYMORPHA IN THE ERNE The zebra mussel Dreissena polymorpha (Pallas) is a freshwater bivalve which attaches to hard substrates of plankton communities (Leach 1993; Reeders et al. 1993). Following the rapid colonisation by zebra mussels

  19. Short Specialist Review Gene structure prediction

    E-print Network

    Brendel, Volker

    as well as genome-survey sequencing is in progress for dozens of plant species, all of which appearShort Specialist Review Gene structure prediction in plant genomes Volker Brendel Iowa State prediction in vertebrates. The second reason is pragmatic. Expressed Sequence Tag (EST) sequencing and whole-genome

  20. Metropolitan French: Familiarization & Short-Term Training.

    ERIC Educational Resources Information Center

    Iszkowski, Marie-Charlotte

    The U.S. Department of State's Foreign Service Institute French Familiarization and Short-Term (FAST) course for personnel working and living in France consists of 10 weeks of French language instruction combined with practical and cultural information. An introductory section outlines FAST course objectives and sample teaching techniques in…

  1. 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.

  2. Survey of plant short tandem DNA repeats

    Microsoft Academic Search

    Z. Wang; J. L. Weber; G. Zhong; S. D. Tanksley

    1994-01-01

    Length variations in simple sequence tandem repeats are being given increased attention in plant genetics. Some short tandem repeats (STRs) from a few plant species, mainly those at the dinucleotide level, have been demonstrated to show polymorphisms and Mendelian inheritance. In the study reported here a search for all of the possible STRs ranging from mononucleotide up to tetranucleotide repeats

  3. Blended Learning Concepts - a Short Overview

    Microsoft Academic Search

    Sonja Trapp

    2006-01-01

    This paper presents a short overview of blended learning, showing arguments for and against these concepts. Potential blended learning scenarios are described that vary depending on the degree of instructor involvement, learner self-organisation and on-line moderation or coaching. The paper ends with an example of successful application of a blended learning concept in industry.

  4. VIROLOGY 214, 289293 (1995) SHORT COMMUNICATION

    E-print Network

    Brent, Roger

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

  5. 35-Flicks: Review of 35 Short Films.

    ERIC Educational Resources Information Center

    Arizona State Univ., Tempe. EPDA Inst. in Media and the Teaching of English.

    Comments about these short films, written by participants of the EPDA Institute in Media and the Teaching of English, include an abstract of the film's main points, a plot synopsis, appropriate age level of the audience, strengths and weakenesses of the film, possible unit themes or topics to be developed around the film, a list of books and…

  6. 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.

  7. 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

  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. Original Research Article Postfamine Stature and Socioeconomic Status in Ireland

    Microsoft Academic Search

    KRISTIN YOUNG; JOHN H. RELETHFORD; MICHAEL H. CRAWFORD

    Previous research has documented socioeconomic stratification of secular trend in height in historical populations. Using data from 4,900 males and 1,430 females born between 1840 and 1910 collected as part of the Har- vard Anthropological Survey of Ireland (1934-1936), this study examined the secular changes in postfamine Ireland using several socioeconomic variables, including: occupation, migration, education, siblings, birthplace, and occupation

  10. “Substream” recordings: Some shifts in stature and alterations in song

    Microsoft Academic Search

    Eric Simon B. A; Bruce Anderson M. A

    1978-01-01

    “Substream” recordings (performances at variance with current commercial “mainstream” song types) disseminate essentially regional material to a mass audience. This paper details the fluctuations in popularity of substream musics relative to mainstream (traditional pop and rock) musics and examines artist type and lyric content for number one records to indicate that substream material is usually performed by solo male vocalists

  11. Power-Building President Seeks Stature for Florida International.

    ERIC Educational Resources Information Center

    Basinger, Julianne

    2001-01-01

    Describes how Modesto A. Maidique, president of Florida International University, uses his business savvy and his connections in an effort to push it higher among the ranks of research institutions. (EV)

  12. Study of quiet turbofan STOL aircraft for short haul transportation

    NASA Technical Reports Server (NTRS)

    Higgins, T. P.; Stout, E. G.; Sweet, H. S.

    1973-01-01

    A study of quiet turbofan short takeoff aircraft for short haul air transportation was conducted. The objectives of the study were to: (1) define representative aircraft configurations, characteristics, and costs associated with their development, (2) identify critical technology and technology related problems to be resolved in successful introduction of representative short haul aircraft, (3) determine relationships between quiet short takeoff aircraft and the economic and social viability of short haul, and (4) identify high payoff technology areas.

  13. 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

  14. Prader-Willi syndrome.

    PubMed

    Cassidy, Suzanne B; Schwartz, Stuart; Miller, Jennifer L; Driscoll, Daniel J

    2012-01-01

    Prader-Willi syndrome is characterized by severe infantile hypotonia with poor suck and failure to thrive; hypogonadism causing genital hypoplasia and pubertal insufficiency; characteristic facial features; early-childhood onset obesity and hyperphagia; developmental delay/mild intellectual disability; short stature; and a distinctive behavioral phenotype. Sleep abnormalities and scoliosis are common. Growth hormone insufficiency is frequent, and replacement therapy provides improvement in growth, body composition, and physical attributes. Management is otherwise largely supportive. Consensus clinical diagnostic criteria exist, but diagnosis should be confirmed through genetic testing. Prader-Willi syndrome is due to absence of paternally expressed imprinted genes at 15q11.2-q13 through paternal deletion of this region (65-75% of individuals), maternal uniparental disomy 15 (20-30%), or an imprinting defect (1-3%). Parent-specific DNA methylation analysis will detect >99% of individuals. However, additional genetic studies are necessary to identify the molecular class. There are multiple imprinted genes in this region, the loss of which contribute to the complete phenotype of Prader-Willi syndrome. However, absence of a small nucleolar organizing RNA gene, SNORD116, seems to reproduce many of the clinical features. Sibling recurrence risk is typically <1%, but higher risks may pertain in certain cases. Prenatal diagnosis is available. PMID:22237428

  15. Prader-Willi syndrome: genetic tests and clinical findings.

    PubMed

    Fridman, C; Varela, M C; Kok, F; Setian, N; Koiffmann, C P

    2000-01-01

    Here we describe the genetic studies performed in 53 patients with the suspected diagnosis of Prader-Willi syndrome (PWS). PWS is characterized by neonatal hypotonia, hypogonadism, delayed psychomotor development, hyperphagia, obesity, short stature, small hands and feet, learning disabilities, and obsessive-compulsive behavior. Through the methylation analysis of the SNRPN gene, microsatellite studies of loci mapped within and outside the PWS/AS region, and fluorescence in situ hybridization (FISH) study, we confirmed the diagnosis in 35 patients: 27 with a paternal deletion, and 8 with maternal uniparental disomy (UPD). The clinical comparisons between deleted and UPD patients indicated that there were no major phenotype differences, except for a lower birth length observed in the UPD children. Our sample was composed of more girls than boys; UPD patients were diagnosed earlier than the deleted cohort (2(10/12) s. 7(9/12) years); and, in the deleted group, the boys were diagnosed earlier than the girls (5(2/12) vs. 7(8/12) years, respectively). PMID:11216664

  16. The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients.

    PubMed

    Nishimoto, Hiromi Koso; Ha, Kyungsoo; Jones, Julie R; Dwivedi, Alka; Cho, Hyun-Min; Layman, Lawrence C; Kim, Hyung-Goo

    2014-09-01

    Coffin-Lowry syndrome (CLS) is a rare X-linked dominant disorder characterized by intellectual disability, craniofacial abnormalities, short stature, tapering fingers, hypotonia, and skeletal malformations. CLS is caused by mutations in the Ribosomal Protein S6 Kinase, 90 kDa, Polypeptide 3 (RPS6KA3) gene located at Xp22.12, which encodes Ribosomal S6 Kinase 2 (RSK2). Here we analyzed RPS6KA3 in three unrelated CLS patients including one from the historical Coffin-Lowry syndrome family and found two novel mutations. To date, over 140 mutations in RPS6KA3 have been reported. However, the etiology of the very first familial case, which was described in 1971 by Lowry with detailed phenotype and coined the term CLS, has remained unknown. More than 40 years after the report, we succeeded in identifying deposited fibroblast cells from one patient of this historic family and found a novel heterozygous 216 bp in-frame deletion, encompassing exons 15 and 16 of RPS6KA3. Drop episodes in CLS patients were reported to be associated with truncating mutations deleting the C-terminal kinase domain (KD), and only one missense mutation and one single basepair duplication involving the C-terminal KD of RSK2 in the patients with drop episode have been reported thus far. Here we report the first in-frame deletion in C-terminal KD of RPS6KA3 in a CLS patient with drop episodes. PMID:25044551

  17. Ectodermal abnormalities in patients with Kabuki syndrome.

    PubMed

    Abdel-Salam, Ghada M H; Afifi, Hanan H; Eid, Maha M; El-Badry, Tarek H; Kholoussi, Naglaa

    2011-01-01

    Kabuki syndrome (KS) is extensively described in the literature and characterized by a typical facial gestalt in combination with postnatal short stature, hypotonia, joint laxity, developmental delay, persistent fetal fingertip pads, and an ever-growing group of congenital abnormalities. In this study, we focus on some ectodermal manifestations that we have observed. We studied seven patients who fulfilled the clinical criteria for KS and undertook a detailed clinical, dental, cytogenetic, and immunoglobulin assessments. In addition, microscopic hair examinations were performed on all patients and compared with matched control patients. All patients had receding of the anterior hair line, but five had evident sparse frontal scalp hair. They all showed peculiar similar microscopic hair abnormalities in the form of twisting of the hair shafts, irregularity of the diameter of the hair, and trichorrhexis nodosa. In addition, hypoplastic nails, café-au-lait patches, and missing upper lateral incisors were observed in 57.1%, 28.6%, and 14.3% of the patients, respectively. Variable orodental anomalies were seen in all the patients with an everted lower lip found in four patients (57.1%). This report provides further evidence that some cases of KS have ectodermal involvement. PMID:21692838

  18. The isochromosome 18p syndrome: confirmation of cytogenetic diagnosis in nine cases by in situ hybridization.

    PubMed Central

    Callen, D F; Freemantle, C J; Ringenbergs, M L; Baker, E; Eyre, H J; Romain, D; Haan, E A

    1990-01-01

    Nine cases are described of tetrasomy 18p resulting from the presence of an isochromosome 18p [i(18p)]. The initial diagnosis of i(18p) was by standard cytogenetic techniques and was confirmed by in situ hybridization with a biotinylated alphoid probe (L1.84) specific for the pericentric region of chromosome 18 and with a tritium-labeled chromosome 18 probe (B74) which hybridizes to the D18S3 locus situated at 18p11.3. The clinical features of the cases are summarized and shown to constitute a distinct and recognizable syndrome. Common features were low birth weight, a characteristic facies, neonatal hypotonia with subsequent limb spasticity, short stature, microcephaly, mental retardation, and seizure disorders. On the basis of size and cytogenetic banding a marker chromosome can be suspected to be an i(18p). In situ hybridization with the alphoid probe L1.84 provides confirmation of chromosome 18 origin. This more precise diagnosis will be an advantage in situations of pre- and postnatal diagnosis, since parents can be provided with a more confident prognosis for their child. Images Figure 1 Figure 2 Figure 3 PMID:2393023

  19. The isochromosome 18p syndrome: confirmation of cytogenetic diagnosis in nine cases by in situ hybridization.

    PubMed

    Callen, D F; Freemantle, C J; Ringenbergs, M L; Baker, E; Eyre, H J; Romain, D; Haan, E A

    1990-09-01

    Nine cases are described of tetrasomy 18p resulting from the presence of an isochromosome 18p [i(18p)]. The initial diagnosis of i(18p) was by standard cytogenetic techniques and was confirmed by in situ hybridization with a biotinylated alphoid probe (L1.84) specific for the pericentric region of chromosome 18 and with a tritium-labeled chromosome 18 probe (B74) which hybridizes to the D18S3 locus situated at 18p11.3. The clinical features of the cases are summarized and shown to constitute a distinct and recognizable syndrome. Common features were low birth weight, a characteristic facies, neonatal hypotonia with subsequent limb spasticity, short stature, microcephaly, mental retardation, and seizure disorders. On the basis of size and cytogenetic banding a marker chromosome can be suspected to be an i(18p). In situ hybridization with the alphoid probe L1.84 provides confirmation of chromosome 18 origin. This more precise diagnosis will be an advantage in situations of pre- and postnatal diagnosis, since parents can be provided with a more confident prognosis for their child. PMID:2393023

  20. Ophthalmologic features of Prader-Willi syndrome.

    PubMed

    Hered, R W; Rogers, S; Zang, Y F; Biglan, A W

    1988-01-01

    Forty-six patients with Prader-Willi syndrome were examined to determine the incidence and character of ocular abnormalities. All patients met clinical criteria for this syndrome including infantile hypotonia, hypogonadism, truncal obesity, intellectual impairment, dysmorphic facies, and short stature. Thirty-two patients had best corrected visual acuities between 6/6 and 6/9 in each eye. Seven patients (15%) had myopia greater than -3.75 diopters. Nineteen (41%) patients had astigmatism of 1.25 diopters or greater. Amblyopia of strabismic, anisometropic, or ametropic etiology was present in 11 (24%) of the patients. Strabismus was present in 25 (54%) patients: 22 (48%) patients had esotropia and three (7%) had exotropia. Nine patients either received or required strabismus surgery. Thirty-three percent of the patients examined for iris transillumination defects had this finding. This study represents the first large series of patients with Prader-Willi syndrome to undergo detailed ophthalmologic evaluation. Recognition of this syndrome is important because of the high incidence of potentially treatable ocular problems. PMID:3397859

  1. A Turkish patient with large 17p11.2 deletion presenting with Smith Magenis syndrome.

    PubMed

    Tug, E; Cine, N; Aydin, H

    2011-01-01

    Smith-Magenis syndrome (SMS), which occurs as a result of an interstitial deletion within chromosome 17p11.2-p12, is a disorder that presents itself with minor dysmorphic features, brachydactyly, short stature, hypotonia, delayed speech, cognitive deficits and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behavior. We present a girl with full SMS phenotype. G-banding cytogenetic analysis showed normal 46,XX karyotype. Whole-genome array comparative genomic hybridization (CGH) was performed due to the severity of the phenotype and the unusual features present in the patient. An interstitial deletion in 17p11.2-p12, approximately 4.73 Mb in size was determined. Characteristic physical and behavioral phenotype strongly suggested SMS. This, to the best of our knowledge is the first patient with SMS reported in Turkey. We emphasize the need for whole genome analysis in multiple congenital abnormalities/mental retardation disorders with unusual and severe phenotypes. PMID:21614983

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

    PubMed

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

    2014-08-01

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

  3. 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

  4. 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.

  5. 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.

  6. Ultimately short ballistic vertical graphene Josephson junctions

    NASA Astrophysics Data System (ADS)

    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.

  7. Transient nanobubbles in short-time electrolysis

    E-print Network

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

    2013-01-12

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

  8. Static Load Tests, Short Series Interpretation

    NASA Astrophysics Data System (ADS)

    Meyer, Zygmunt

    2015-02-01

    Statistic load test is the most commonly used method for estimation of the bearing capacity of piles. From the test we obtain the series a values: load-settlement, Q-s curve. In practice, it is extremely difficult to reach the critical load of the pile when the settlement turns out of control. The existing methods that allow bearing capacity to be calculated give the value which is very often 1/10 of the critical load. The question arises if it is possible based upon short series of load, i.e., 0-0.4 critical load, to predict the critical value of the load, with accuracy which is sufficient for practical calculation. The paper presents a method how to calculate the critical load based upon short series of load in the static load tests.

  9. 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

  10. Transient nanobubbles in short-time electrolysis

    NASA Astrophysics Data System (ADS)

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

    2013-05-01

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

  11. Ultimately short ballistic vertical graphene Josephson junctions.

    PubMed

    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

  12. 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.

  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-Term Flood Prediction System

    NASA Astrophysics Data System (ADS)

    Nering, Konrad

    2014-12-01

    This paper describes a fully functional short-term flood prediction system. Its effect has been tested on watershed of Lubie?ka river in Ma?opolska. To use this system it must have a data set also described in this paper. A modification of the system to adopt for predicting flash floods was described. Full operation of the system is shown on example of real flood on Lubie?ka river in June 2011.

  15. Management of the Short Bowel Syndrome

    Microsoft Academic Search

    John K. DiBaise

    Short bowel syndrome (SBS) results from extensive intestinal resection. It is associated with significant morbidity and mortality,\\u000a a reduced quality of life and a high rate of health care resource utilization. The management of patients with SBS requires\\u000a a multidisciplinary approach that includes dietary, fluid and pharmacological management, co-morbid disease management and,\\u000a occasionally, surgery. An understanding of the physiological alterations

  16. A Variable Diameter Short Haul Civil Tiltrotor

    Microsoft Academic Search

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

    1999-01-01

    The Short-Haul-Civil-tiltrotor (SHCT) component of the NASA Aviation Sy stem 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

  17. A short review of pike ecology

    Microsoft Academic Search

    J. F. Craig

    2008-01-01

    A brief review is provided in some advances in understanding the ecology of pike Esox\\u000a lucius Linnaeus over the last 10 years. Based on long-term studies and manipulative, often short-term experiments (laboratory, field\\u000a and mesocosms) several established theories have been supported, as well as new concepts developed. Despite their wide distribution\\u000a pike show low levels of polymorphism and divergence indicative

  18. 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.

  19. 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.

  20. Geo-Neutrinos: a short review

    E-print Network

    Gianni Fiorentini; Marcello Lissia; Fabio Mantovani; Riccardo Vannucci

    2004-09-14

    Geo-neutrino detection will determine the amount of long lived radioactive elements within our planet and fix the debated radiogenic contribution to the terrestrial heat. In addition, it will provide a direct test of the Bulk Silicate Earth model, a fundamental cosmochemical paradigm about the origin of the Earth. Unorthodox models of Earth's core (including the presence of potassium or the possibility of a giant reactor) can also be checked. This short review presents status and prospects of the field.

  1. Intercultural learning on short?term sojourns

    Microsoft Academic Search

    Jane Jackson

    2009-01-01

    This paper presents an ethnographic case study of advanced second language (L2) students from Hong Kong who took part in a short?term sojourn in England after 14 weeks of preparation. While abroad, they lived with a host family, took literary\\/cultural studies courses, visited cultural sites, participated in debriefing sessions, and conducted ethnographic projects. Data consisted of interviews, an intercultural reflections

  2. Short-Range Connectivity with Bluetooth

    Microsoft Academic Search

    Jaap C. Haartsen

    2000-01-01

    In the last decades, progress in microelectronics and VLSI technology has fostered the widespread use of computing and communication\\u000a applications in portable electronic devices. Up until now, information transfer between these devices has been cumbersome\\u000a relying on cables and infrared. Recently, a new universal radio interface has been developed enabling electronic devices to\\u000a connect and communicate via short-range radio connections.

  3. Short wavelength striations on expanding plasma clouds

    SciTech Connect

    Winske, D.; Gary, S.P.

    1989-01-01

    The growth and evolution of short wavelength (

  4. 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.

  5. 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.

  6. Renormalization and Short Distance Singular Structure

    E-print Network

    Mario Castagnino

    2000-08-08

    The relation between renormalization and short distance singular divergencies in quantum field theory is studied. As a consequence a finite theory is presented. It is shown that these divergencies are originated by the multiplication of distributions (and worse defined mathematical objects). Some of them are eliminated defining a multiplication based in dimensional regularization while others disappear considering the states as functionals over the observables space. Non renormalizable theories turn to be finite, but anyhow they are endowed with infinite arbitrary constants.

  7. Narrow resonances and short-range interactions

    SciTech Connect

    Gelman, Boris A. [Department of Physics, New York City College of Technology, City University of New York, New York, New York 11201 (United States)

    2009-09-15

    Narrow resonances in systems with short-range interactions are discussed in an effective field theory (EFT) framework. An effective Lagrangian is formulated in the form of a combined expansion in powers of a momentum Q<<{lambda}--a short-distance scale--and an energy difference {delta}{epsilon}=|E-{epsilon}{sub 0}|<<{epsilon}{sub 0}--a resonance peak energy. At leading order in the combined expansion, a two-body scattering amplitude is the sum of a smooth background term of order Q{sup 0} and a Breit-Wigner term of order Q{sup 2}({delta}{epsilon}){sup -1} which becomes dominant for {delta}{epsilon} < or approx. Q{sup 3}. Such an EFT is applicable to systems in which short-distance dynamics generates a low-lying quasistationary state. The EFT is generalized to describe a narrow low-lying resonance in a system of charged particles. It is shown that in the case of Coulomb repulsion, a two-body scattering amplitude at leading order in a combined expansion is the sum of a Coulomb-modified background term and a Breit-Wigner amplitude with parameters renormalized by Coulomb interactions.

  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. Ultra-short silicon MMI duplexer

    NASA Astrophysics Data System (ADS)

    Yi, Huaxiang; Huang, Yawen; Wang, Xingjun; Zhou, Zhiping

    2012-11-01

    The fiber-to-the-home (FTTH) systems are growing fast these days, where two different wavelengths are used for upstream and downstream traffic, typically 1310nm and 1490nm. The duplexers are the key elements to separate these wavelengths into different path in central offices (CO) and optical network unit (ONU) in passive optical network (PON). Multimode interference (MMI) has some benefits to be a duplexer including large fabrication tolerance, low-temperature dependence, and low-polarization dependence, but its size is too large to integrate in conventional case. Based on the silicon photonics platform, ultra-short silicon MMI duplexer was demonstrated to separate the 1310nm and 1490nm lights. By studying the theory of self-image phenomena in MMI, the first order images are adopted in order to keep the device short. A cascaded MMI structure was investigated to implement the wavelength splitting, where both the light of 1310nm and 1490nm was input from the same port, and the 1490nm light was coupling cross the first MMI and output at the cross-port in the device while the 1310nm light was coupling through the first and second MMI and output at the bar-port in the device. The experiment was carried on with the SOI wafer of 340nm top silicon. The cascaded MMI was investigated to fold the length of the duplexer as short as 117?m with the extinct ratio over 10dB.

  10. Microbial production of short-chain alkanes.

    PubMed

    Choi, Yong Jun; Lee, Sang Yup

    2013-10-24

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

  11. 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

  12. Online Short Course: Energy, Winter 2008

    NSDL National Science Digital Library

    1900-01-01

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

  13. Online Short Course: Energy, Fall 2008

    NSDL National Science Digital Library

    1900-01-01

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

  14. Online Short Course: Energy, Summer 2009

    NSDL National Science Digital Library

    1900-01-01

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

  15. ACS Internal CTE Monitor and Short Darks

    NASA Astrophysics Data System (ADS)

    Lian Lim, Pey

    2010-09-01

    INTERNAL CTE MONITOR:The charge transfer efficiency {CTE} of the ACS CCD detectors will decline as damage due to on-orbit radiation exposure accumulates. This degradation will be monitored once a cycle to determine the useful lifetime of the CCDs. All the data for this program is acquired using internal targets {lamps} only, so all of the exposures should be taken during Earth occultation time {but not during SAA passages}. This program emulates the ACS pre-flight ground calibration and post-launch SMOV testing {program 8948}, so that results from each epoch can be directly compared. Extended Pixel Edge Response {EPER} data will be obtained over a range of signal levels for the Wide Field Channel {WFC}. The signal levels are 125, 500, 1620, 5000, 10000, and 60000 electrons at gain 2.In Cycle 18, this monitoring program has been reduced {compared to 11881} considering that there is also an external CTE monitoring program. High Resolution Camera {HRC} is not available for observations. First Pixel Response {FPR} exposures are removed because they only provide serial CTE for WFC, which is not that useful. Pseudo-bias exposures are removed because they are not used. Signal levels 300, 700, 1000, 30000, and 45000.electrons are removed to reduce total orbits. Number of exposures per setting are reduced to 1 only. Amps BC are removed since amp dependence is not an issue for EPER.SHORT DARKS:To improve the pixel-based CTE model at signals below 10 DN, short dark frames are needed to obtain a statistically useful sample of clean, warm pixel trails. This program obtains 9 dark frames for each of the following exposure times: 33 s, 100 s, and 339 s. These short darks and the 1000 s darks obtained from the CCD Daily Monitor will sample warm and hot pixels over logarithmically increasing brightness.This is a continuation of Program 12327 and is to be executed once a cycle.

  16. Short wavelength ion temperature gradient turbulence

    SciTech Connect

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

    2012-10-15

    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.

  17. Short rise time intense electron beam generator

    DOEpatents

    Olson, Craig L. (Albuquerque, NM)

    1987-01-01

    A generator for producing an intense relativistic electron beam having a subnanosecond current rise time includes a conventional generator of intense relativistic electrons feeding into a short electrically conductive drift tube including a cavity containing a working gas at a low enough pressure to prevent the input beam from significantly ionizing the working gas. Ionizing means such as a laser simultaneously ionize the entire volume of working gas in the cavity to generate an output beam having a rise time less than one nanosecond.

  18. Longitudinal Diagnostics for Short Electron Beam Bunches

    SciTech Connect

    Loos, H.; /SLAC; ,

    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. Setting in the Modern Short Story

    E-print Network

    Hodgson, Elizabeth

    1913-06-05

    of the Requirements for the degree of Master of Arts. June 5, 1-'}l3. .TABLE OF CONTENTS. Bibliog raphy - - - - - - - - - - - Setting in the Modern Short-story_ Int roduction - - I. Kinds and Element s of Setting II. TNe FUnctions of Setting - II I . The Techniq~e... and Fiotion. N. . , James, H nrĄ . Partial Portraits . London , 1 11. :tth W8, Bran r. Tile Hiatorical Novel and Ot her s . ' .. Y •• 1 01. orris, :&'rank . Tla • Y., 1 08. span b11iti of thovellst. • Perry, Bliss . A stu , ot Pro e 'Fiotion. Boaton...

  20. 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.

  1. Language Models for Handwritten Short Message Services

    E-print Network

    Prochasson, Emmanuel Ep; Morin, Emmanuel

    2009-01-01

    Handwriting is an alternative method for entering texts composing Short Message Services. However, a whole new language features the texts which are produced. They include for instance abbreviations and other consonantal writing which sprung up for time saving and fashion. We have collected and processed a significant number of such handwriting SMS, and used various strategies to tackle this challenging area of handwriting recognition. We proposed to study more specifically three different phenomena: consonant skeleton, rebus, and phonetic writing. For each of them, we compare the rough results produced by a standard recognition system with those obtained when using a specific language model.

  2. Neutron scattering and extra short range interactions

    E-print Network

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

    2007-11-14

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

  3. 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.

  4. 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.

  5. Recent Maxima of 67 Short Period Pulsating Stars

    NASA Astrophysics Data System (ADS)

    Samolyk, G.

    2015-01-01

    This paper contains times of maxima for 67 short period pulsating stars (primarily RR Lyrae and d Scuti stars). These maxima represent the CCD observations received by the AAVSO Short Period Pulsator (SPP) section in 2014.

  6. 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.

  7. An analysis of short haul airline operating costs

    NASA Technical Reports Server (NTRS)

    Kanafani, A.; Taghavi, S.

    1975-01-01

    The demand and supply characteristics of short haul air transportation systems are investigated in terms of airline operating costs. Direct, indirect, and ground handling costs are included. Supply models of short haul air transportation systems are constructed.

  8. How to breathe when you are short of breath

    MedlinePLUS

    Pursed lip breathing ... Pursed lip breathing helps you use less energy to breathe. It can help you relax. When you are short ... you feel less short of breath. Use pursed lip breathing when you do things that make you ...

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

    E-print Network

    Liu, Hu

    2012-10-19

    Naked short selling occurs when a short seller fails to deliver shares on the settlement day. The business press and many corporate managers characterize it as abusive price manipulation, alleging that selling nonexistent shares causes a price...

  10. Short fiction creative writing: storytelling with a film perspective

    E-print Network

    Francis, James

    2005-08-29

    The research and material contained in this thesis will examine short story theory from current perspectives in the field and provide a response to questions posed about the composition of short fiction. A critical introduction will take...

  11. Development of a Short Form of the Roommate Rapport Scale.

    ERIC Educational Resources Information Center

    Carey, John C.; And Others

    1988-01-01

    Evaluated a short form of the Roommate Rapport Scale that would maintain the scale's reliability and eliminate potentially objectionable items using students (N=320) who resided in dormitories. Results showed the short form to be reliable and unidimensional. (ABL)

  12. Short-time evolution of nonlinear Klein-Gordon systems

    SciTech Connect

    Guha-Roy, C.; Bagchi, B.; Sinha, D.K.

    1987-04-01

    The short-time evolution of a class of nonlinear Klein-Gordon systems is studied. For nonzero mass, the short-time behavior of the field variable has an inverse-sine spectrum rather than an exponential one.

  13. Examination of short-contact-time coal liquefaction product stability. [Short contract time liquefaction

    SciTech Connect

    Wham, R.M.; Rodgers, B.R.; Frazier, G.C.

    1982-01-01

    An experimental apparatus for producing short contact time (SCT) coal liquefaction material was assembled to replace tubing bomb microreactors. The apparatus consists of a 300 cm/sup 3/ autoclave, coal delivery equipment, temperature monitoring and control equipment, and gas traps for venting gaseous reaction products. Additionally, methods for evaluation of short contact time liquefaction products were reviewed and evaluated for applicability to this project. The results of elemental analysis; time-temperature profiles; fractionation into oils, asphaltenes, preasphaltenes, and residue; and high performance liquid chromatography (HPLC) are discussed. The applicability of the analytic methods to developing correlations relating short contact time liquefaction products to process conditions is also discussed. Finally, preliminary data from 19 cm/sup 3/ tubing bomb microreactors are discussed. Differences in operation of the 300 cm/sup 3/ autoclave and the 19 cm/sup 3/ microreactors are compared.

  14. Thermal conductivity of hybrid short fiber composites

    SciTech Connect

    Dunn, M.L.; Taya, M.; Hatta, H.; Takei, T.; Nakajima, Y. (Washington Univ., Seattle (United States) Inst. of Space and Astronautical Science, Sagamihara (Japan) Three-D Composites Research, Tsukuba (Japan) Tohoku Univ., Sendai (Japan))

    1993-01-01

    A combined analytical/experimental study has been undertaken to investigate the effective thermal conductivity of hybrid composite materials. The analysis utilizes the equivalent inclusion approach for steady state heat conduction (Hatta and Taya, 1986) through which the interaction between the various reinforcing phases at finite concentrations is approximated by the Mori-Tanaka (1973) mean field approach. The multiple reinforcing phases of the composite are modeled as ellipsoidal in shape and thus can simulate a wide range of microstructural geometries ranging from thin platelet to continuous fiber reinforcement. The case when one phase of the composite is penny-shaped microcracks is studied in detail. Multiphase composites consisting of a Kerimid matrix and Al2O3 short fibers and Si3N4 whiskers were fabricated and, after a careful study of their microstructure, their thermal conductivities were measured. Analytical predictions are shown to be in good agreement with experimental results obtained for the Al2O3/Si3N4/Kerimid short fiber composites. 26 refs.

  15. Short-term energy outlook, July 1998

    SciTech Connect

    NONE

    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.

  16. Short-term energy outlook, January 1999

    SciTech Connect

    NONE

    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.

  17. Short term rehabilitation and ankle instability.

    PubMed

    Lee, K-Y; Lee, H-J; Kim, S-E; Choi, P-B; Song, S-H; Jee, Y-S

    2012-06-01

    Chronic ankle instability (CAI) after ankle sprains has been shown to cause foot and ankle disability. Although rehabilitation programs for patients with CAI have been performed in related studies, few researchers have studied overall performance including pain, balance, and isokinetic torque. The purpose of this study was to determine if a short-term rehabilitation program that addressed range of motion (ROM), functional muscular performance, and neuromuscular control, can improve the foot/ankle disability index (FADI), FADI-Sport, ROM, star excursion balance test (SEBT), and isokinetic torque for patients with CAI. Prior to the experiment, we investigated the principal injury site through an administered questionnaire on 236 potential participants, and selected 18 male subjects aged between 21 and 23 years. 9 subjects (rehabilitation group, RG) with unilateral CAI took part in the rehabilitation program for 4 weeks, whereas 9 subjects (control group, CG) did not participate in that program. The results were as follows; the RG significantly increased FADI, FADI-Sport scores, and ROM on the injured limb compared with the CG. Also, the RG had greater SEBT reaches and improvements in isokinetic torque compared with the CG. In conclusion, these results demonstrate that a short-term rehabilitation program can improve functional limitations in patients with CAI. PMID:22422307

  18. Bibliography of short wavelength chemical laser research

    NASA Astrophysics Data System (ADS)

    Perram, Glen P.

    1993-05-01

    High power short wavelength chemical laser (SWCL) systems offer great advantages for strategic and tactical military applications, including both weapons and imaging missions. The promise of very high brightness, high mass efficiency, and wavelength agility has justified a modest basic research program for more than a decade. Significant progress towards the demonstration of a visible chemical laser has been made during the past few years. Highly efficient methods of chemically producing metastable electronic states at concentrations exceeding 3 x 10(exp 16) molecules/cu cm have been developed. Energy transfer from these metastables to suitable lasant species has been used to demonstrate gain in the visible. Chemically generated gain of 0.029 %/cm on the (A-X) electronic transition in bismuth fluoride has been demonstrated using pulsed thermolysis of fluorine azide and trimethyl bismuth mixtures. Recently, a table-top shock facility has been used to achieve unsaturated lasing in the same system. During the past ten years, over 400 articles and reports have resulted from this research program. This bibliography summarizes this Department of Defense sponsored research on short wavelength chemical lasers since 1980.

  19. Repulsive short range three-nucleon interaction

    SciTech Connect

    Pena, M.T.; Riska, D.O.; Coon, S.A.

    1995-04-01

    The three nucleon interaction (TNI) that arises from pion and the effective scalar and vector meson exchange components of the nucleon-nucleon interaction is constructed. The dominant terms of this TNI involve an intermediate nucleon-antinucleon pair and can be thought of as a {pi} - {open_quotes}{sigma}{close_quotes} exchange and a {pi} - {open_quotes}{omega}{close_quotes} exchange TNI. Using several wavefunction models they show that this interaction reduces the calculated binding energy of the trinucleon in perturbation theory. Their most consistent combination of this short range TNI and a triton wavefunction both derived from the Bonn OBEPQ reduces the triton binding energy by about 200 KeV (roughly a factor of 4 smaller than that of the Tucson-Melbourne {pi} - {rho} TNI with the OBEPQ wavefunction). These results are qualitatively unchanged by the corresponding TNIs that arise from the excitation of N(1440) resonances on the intermediate nucleon. The totality of these TNIs provide an amount of additional repulsion that approximately corresponds to that of the repulsive spin-independent phenomenological TNI of short range postulated in some studies of light nuclei.

  20. 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.

  1. Short Term Exogenic Climate Change Forcing

    NASA Astrophysics Data System (ADS)

    Krahenbuhl, Daniel

    Several short term exogenic forcings affecting Earth's climate are but recently identified. Lunar nutation periodicity has implications for numerical meteorological prediction. Abrupt shifts in solar wind bulk velocity, particle density, and polarity exhibit correlation with terrestrial hemispheric vorticity changes, cyclonic strengthening and the intensification of baroclinic disturbances. Galactic Cosmic ray induced tropospheric ionization modifies cloud microphysics, and modulates the global electric circuit. This dissertation is constructed around three research questions: (1): What are the biweekly declination effects of lunar gravitation upon the troposphere? (2): How do United States severe weather reports correlate with heliospheric current sheet crossings? and (3): How does cloud cover spatially and temporally vary with galactic cosmic rays? Study 1 findings show spatial consistency concerning lunar declination extremes upon Rossby longwaves. Due to the influence of Rossby longwaves on synoptic scale circulation, our results could theoretically extend numerical meteorological forecasting. Study 2 results indicate a preference for violent tornadoes to occur prior to a HCS crossing. Violent tornadoes (EF3+) are 10% more probable to occur near, and 4% less probable immediately after a HCS crossing. The distribution of hail and damaging wind reports do not mirror this pattern. Polarity is critical for the effect. Study 3 results confirm anticorrelation between solar flux and low-level marine-layer cloud cover, but indicate substantial regional variability between cloud cover altitude and GCRs. Ultimately, this dissertation serves to extend short term meteorological forecasting, enhance climatological modeling and through analysis of severe violent weather and heliospheric events, protect property and save lives.

  2. SHORT-WAVELENGTH MAGNETIC BUOYANCY INSTABILITY

    SciTech Connect

    Mizerski, K. A.; Davies, C. R.; Hughes, D. W., E-mail: kamiz@igf.edu.pl, E-mail: tina@maths.leeds.ac.uk, E-mail: d.w.hughes@leeds.ac.uk [Department of Applied Mathematics, University of Leeds, Leeds LS2 9JT (United Kingdom)

    2013-04-01

    Magnetic buoyancy instability plays an important role in the evolution of astrophysical magnetic fields. Here we revisit the problem introduced by Gilman of the short-wavelength linear stability of a plane layer of compressible isothermal fluid permeated by a horizontal magnetic field of strength decreasing with height. Dissipation of momentum and magnetic field is neglected. By the use of a Rayleigh-Schroedinger perturbation analysis, we explain in detail the limit in which the transverse horizontal wavenumber of the perturbation, denoted by k, is large (i.e., short horizontal wavelength) and show that the fastest growing perturbations become localized in the vertical direction as k is increased. The growth rates are determined by a function of the vertical coordinate z since, in the large k limit, the eigenmodes are strongly localized in the vertical direction. We consider in detail the case of two-dimensional perturbations varying in the directions perpendicular to the magnetic field, which, for sufficiently strong field gradients, are the most unstable. The results of our analysis are backed up by comparison with a series of initial value problems. Finally, we extend the analysis to three-dimensional perturbations.

  3. Reminding Short-Term Memory Sufferers to Complete Routine Tasks

    E-print Network

    Hammerton, James

    Reminding Short-Term Memory Sufferers to Complete Routine Tasks Caitlin Lustig, Lorcan Coyle afforded us, more people are suffering from short term memory loss than ever before. Short term memory sufferers often forget what they were doing in the middle of a task and can find themselves in dangerous

  4. Final Report 527 Economic Impact Analysis of Short Line Railroads

    E-print Network

    Stephens, Jacqueline

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

  5. The Significance of "Atmosphere" in Translating the Short Story.

    ERIC Educational Resources Information Center

    Khozan, Maryam

    1993-01-01

    Suggests the use of the term "atmosphere" (from New Criticism), which covers the short story's dominant emotional mood, as a help for translators of short stories. Argues that the proper comprehension of this key concept will make it easier for translators to select combinations and substitutions which faithfully reflect the original short story.…

  6. 77 FR 21057 - Short-Term Investment Funds

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-04-09

    ...the short-term investment fund...title ``Short-Term Investment Funds...Click ``Advanced Search''. Select...or ID'' box, enter Docket ID...or ID'' box enter Docket ID...and click ``Search''. If comments...Background A. Short-Term Investment...

  7. Student Appointment vs Short Term Worker Appointment 4S Position

    E-print Network

    Dyer, Bill

    Student Appointment vs Short Term Worker Appointment Key 4S Position Students taking 1 or more pay scale in case of future employment 4T Position A short term worker is an employee taking classification pay scale for wage & title S1 Suffix Represents a Student Position 00 Suffix Represents a Short

  8. Exposure to short days, but not short-term melatonin, enhances humoral immunity of male Syrian hamsters

    E-print Network

    Demas, Greg

    Exposure to short days, but not short-term melatonin, enhances humoral immunity of male Syrian of melatonin secretion in short days [12, 16, 17]. Melatonin acts both directly and indirectly on target tissue within the immune system [17­21]. Melatonin can act indirectly to affect immunity by altering several

  9. Short and Long Supports Short and Long Supports for Constraint Propagation

    E-print Network

    St Andrews, University of

    a subset of the variables, they can infer support (a jus- tification that a variable, value pair may still of magnitude, and up to three orders of magnitude. Note to editors/reviewers Most of sections 2-6 of this paper are based on our IJ- CAI 2011 paper "Exploiting Short Supports for Generalised Arc Consistency for Arbitrary

  10. Why are very short times so long and very long times so short in elastic waves?

    E-print Network

    Guido Parravicini; Serena Rigamonti

    2010-09-23

    In a first study of thermoelastic waves, such as on the textbook of Landau and Lifshitz, one might at first glance understand that when the given period is very short, waves are isentropic because heat conduction does not set in, while if the given period is very long waves are isothermal because there is enough time for thermalization to be thoroughly accomplished. When one pursues the study of these waves further, by the mathematical inspection of the complete thermoelastic wave equation he finds that if the period is very short, much shorter than a characteristic time of the material, the wave is isothermal, while if it is very long, much longer than the characteristic time, the wave is isentropic. One also learns that this fact is supported by experiments: at low frequencies the elastic waves are isentropic, while they are isothermal when the frequencies are so high that can be attained in few cases. The authors show that there is no contradiction between the first glance understanding and the mathematical treatment of the elastic wave equation: for thermal effects very long periods are so short and very short periods are so long.

  11. Why are very short times so long and very long times so short in elastic waves?

    NASA Astrophysics Data System (ADS)

    Parravicini, Guido; Rigamonti, Serena

    2011-01-01

    In a first study of thermoelastic waves, such as in the textbook of Landau and Lifshitz, one might at first glance understand that when the given period is very short, waves are isentropic because heat conduction does not set in, while if the given period is very long, waves are isothermal because there is enough time for thermalization to be thoroughly accomplished. When one pursues the study of these waves further, by the mathematical inspection of the complete thermoelastic wave equation one finds that if the period is very short, much shorter than a characteristic time of the material, the wave is isothermal, while if it is very long, much longer than the characteristic time, the wave is isentropic. One also learns that this fact is supported by experiments: at low frequencies the elastic waves are isentropic, while they are isothermal when the frequencies are so high that can be attained in few cases. The authors show that there is no contradiction between first-glance understanding and the mathematical treatment of the elastic wave equation: for thermal effects very long periods are so short and very short periods are so long.

  12. Zeiss-Meta -1-Short instructions Short instructions for the Zeiss-META

    E-print Network

    Manstein, Dietmar J.

    information on laser safety and general guidelines. Content: 1. Laser safety Page 2 2. General guidelines Page #12;Zeiss-Meta -2- Short instructions 1. Laser safety Safety notes for operating the laser scanning are lit. If used as prescribed and observing the safety notes during the operation of a laser scanning

  13. Olympus FV1000 -1-Short instructions Short instructions. Olympus FV1000

    E-print Network

    Manstein, Dietmar J.

    information on laser safety and general guidelines. Content: 1. Laser safety Page 2 2. General guidelines Page the microscope Page 7 #12;Olympus FV1000 -2- Short instructions 1. Laser safety Safety notes for operating indicators are lit. If used as prescribed and observing the safety notes during the operation of a laser

  14. Leica-Upright-MP -1-Short instruction Short instruction for the Leica-Upright-MP

    E-print Network

    Manstein, Dietmar J.

    important information on laser safety and general guidelines. Content: 1. Laser safety Page 2 2. General-Upright-MP -2- Short instruction 1. Laser safety Safety notes for operating the laser scanning microscope are lit. If used as prescribed and observing the safety notes during the operation of a laser scanning

  15. Leica-Upright-2 -1-Short instructions Short instructions for the Leica-Upright-2

    E-print Network

    Manstein, Dietmar J.

    important information on laser safety and general guidelines. Content: 1. Laser safety Page 2 2. General -2- Short instructions 1. Laser safety Safety notes for operating the laser scanning microscope are lit. If used as prescribed and observing the safety notes during the operation of a laser scanning

  16. Leica-Inverted-MP -1-Short instructions Short instructions for the Leica-Inverted-MP

    E-print Network

    Manstein, Dietmar J.

    also contains important information on laser safety and general guidelines. Content: 1. Laser safety Page 11 #12;Leica-Inverted-MP -2- Short instructions 1. Laser safety Safety notes for operating indicators are lit. If used as prescribed and observing the safety notes during the operation of a laser

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

    E-print Network

    Hemmers, Oliver

    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

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

    E-print Network

    Hemmers, Oliver

    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

  19. 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.

  20. Recurrent networks with short term synaptic depression.

    PubMed

    York, Lawrence Christopher; van Rossum, Mark C W

    2009-12-01

    Cortical circuitry shows an abundance of recurrent connections. A widely used model that relies on recurrence is the ring attractor network, which has been used to describe phenomena as diverse as working memory, visual processing and head direction cells. Commonly, the synapses in these models are static. Here, we examine the behaviour of ring attractor networks when the recurrent connections are subject to short term synaptic depression, as observed in many brain regions. We find that in the presence of a uniform background current, the network activity can be in either of three states: a stationary attractor state, a uniform state, or a rotating attractor state. The rotation speed can be adjusted over a large range by changing the background current, opening the possibility to use the network as a variable frequency oscillator or pattern generator. Finally, using simulations we extend the network to two-dimensional fields and find a rich range of possible behaviours. PMID:19578989

  1. Short time dynamics of viscous drop spreading

    NASA Astrophysics Data System (ADS)

    Eddi, A.; Winkels, K. G.; Snoeijer, J. H.

    2013-01-01

    Liquid drops start spreading directly after coming into contact with a solid substrate. Although this phenomenon involves a three-phase contact line, the spreading motion can be very fast. We experimentally study the initial spreading dynamics, characterized by the radius of the wetted area, for viscous drops. Using high-speed imaging with synchronized bottom and side views gives access to 6 decades of time resolution. We show that short time spreading does not exhibit a pure power-law growth. Instead, we find a spreading velocity that decreases logarithmically in time, with a dynamics identical to that of coalescing viscous drops. Remarkably, the contact line dissipation and wetting effects turn out to be unimportant during the initial stages of drop spreading.

  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. 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.

  5. Brain Connectivity Analysis: A Short Survey

    PubMed Central

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

    2012-01-01

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

  6. [Trans-acting short interfering RNAs].

    PubMed

    Warkocki, Zbigniew; Figlerowicz, Marek

    2006-01-01

    RNA is now considered a key factor in the regulation of gene expression. There are several classes of small regulatory RNAs in plants, functioning in posttranscriptional gene silencing (PTGS) or epigenetic DNA modification. Trans-acting short interfering RNAs (tasiRNAs) form a class of small regulatory RNAs which has been distinguished only recently. To date, five genes encoding tasiRNAs have been identified in Arabidopsis thaliana. TasiRNAs derive from non-coding RNA precursors which are initially targeted for cleavage by a miRNA. Cleavage products are then converted into dsRNAs by a RNA dependent RNA polymerase and sequentially cleaved into 21-nt tasiRNAs. Like the majority of plant miRNAs, tasiRNAs regulate gene expression at the posttranscriptional level, guiding cleavage of ARF and PPR transcripts. Here, we briefly present tasiRNAs and speculate whether they form a homogeneous class of siRNAs. PMID:17201060

  7. Word is out on SSC short list

    NASA Astrophysics Data System (ADS)

    Maggs, William Ward

    Sites in eight states have been selected by a panel from the National Academy of Sciences (NAS) as finalists in the selection process for the U.S. Department of Energy (DOE) Superconducting Super Collider (SSC), two Republican Senators announced today. DOE acknowledged that it had received a list from NAS but would not confirm the contents of the list.According to the Associated Press, Senators Jesse Helms (R-N.C.) and Phil Gramm (R-Tex.) were notified about the list by Secretary of Energy John Herrington. In a subsequent news conference, Helms announced that sites in Texas, Arizona, Colorado, Tennessee, New York, Illinois, Michigan, and North Carolina had been placed by the NAS panel on a “short list” and presented to DOE.

  8. The winter anomaly (WA) of short waves

    NASA Astrophysics Data System (ADS)

    Velinov, P. I.; Vlaskov, V. A.; Smirnova, N. A.

    Mechanisms responsible for the enhanced wintertime absorption of short waves in the altitude interval 75-90 km are investigated. Absorption augmentation of 1.5-2 times the normal daily winter levels have been observed. The heights at which the anomalous absorption occurs are regions where strong ionic species variations are present on a seasonal basis. It is shown that the absorption intensity is dependent on the species concentration, which is higher during the winter. A formulation is defined for the electronic production profiles and evaluated for January and July. Account is taken of the speed of ion production and the radiative input. Data is presented from absorption measurements at 1 MHz and comparisons are made with predictions. It is found that the winter augmentation is influenced by the temperature, species, and the atmospheric density.

  9. Dedicated short-stay spinal unit.

    PubMed

    Lubkey, T B; Fox, R; Petruk, K C; MacDonald, G M

    1995-06-01

    Prolonged waiting periods for patients with benign spinal surgical lesions led to the creation of a Dedicated Short Stay Spinal Surgical Unit. This unit was implemented in November, 1992, on a 29 bed Neuroscience Unit in a 1200 bed Acute Care Teaching Hospital. Considerations for implementation were many, including psychological impact of chronic pain for patients on prolonged waiting lists, the increased probability of permanent waiting lists, the increased probability of permanent neurological deficits, and the economic impact to patient, societal and hospital budgets. This paper will focus on explanation of the design of the unit, define the benefits and provide study results of the first 85 patients admitted to the unit. PMID:7626438

  10. Short counseling techniques for busy family doctors.

    PubMed Central

    Poon, V. H.

    1997-01-01

    OBJECTIVE: To introduce two short counseling skills for busy family doctors: the BATHE technique and the DIG technique. QUALITY OF EVIDENCE: The BATHE technique indicates five areas for questioning patients who require counseling: background, affect, trouble, handling, and empathy. No research on use of the technique has been published. The DIG technique is the author's modification of the BATHE technique. MAIN FINDINGS: While the efficacy of counseling in general was validated, more research on the effectiveness on these two techniques needs to be done. CONCLUSIONS: Since counseling is an integral part of family practice, family doctors will find these techniques useful. Each is easy to learn and takes less than 15 minutes to complete. PMID:9111987

  11. [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

  12. Modeling of Ultra-Short-Pulse Reflectometry

    NASA Astrophysics Data System (ADS)

    Cohen, Bruce I.

    1998-11-01

    Pulsed reflectometry offers the prospect of making space and time-resolved measurements of the radial profiles of both the electron density and the vector magnetic field in the midplane of a device, from which the current profile can be inferred if the device is toroidally symmetric and has a weak up-down asymmetry at the midplane. Detailed modeling of the use of ultra-short-pulse reflectometry to diagnose radial electron density and magnetic field strength profiles has been undertaken with a suite of one and two-dimensional, wave-equation-solving simulation codes and analytical calculations.(B. I. Cohen, L. L. LoDestro, E. B. Hooper, and T. A. Casper, Plasma Phys. Contr. Fusion 40), 75 (1998). The reflectometry simulations are coupled to the CORSICA equilibrium and transport code to allow realistic plasma density and magnetic profiles to be used. The simulations show that pulsed reflectometry is a relatively robust technique for inferring density and magnetic profiles. A new innovation is the demonstration that the linear mode conversion of extraordinary modes to ordinary modes induced by magnetic shear can be diagnosed with reflectometry from which the magnetic pitch angle can be inferred.(B. I. Cohen, E. B. Hooper, M. C. Spang, and C. W. Domier, "Theoretical Aspects of the Use of Pulsed Reflectometry in a Spheromak Plasma," (June, 1998), submitted to Rev. Sci. Instrum.) Some of the characteristics of fluctuations are also revealed by reflectometry. Simulation examples of applications of ultra-short-pulsed reflectometry to the SSPX spheromak experiment at Livermore are presented.

  13. Final Height in Children with Growth Hormone Deficiency

    Microsoft Academic Search

    J. H. Brämswig; H. Schlösser; K. Kiese

    1995-01-01

    Forty-six patients (28 boys, 18 girls) were treated with growth hormone (GH) for short stature. Twenty-eight patients had total growth hormone deficiency (GHD), 12 partial GHD and 6 patients had short stature without GHD. Brain tumours were the cause of GHD in 8 patients and multiple pituitary hormone deficiency was present in 9 children. All patients received GH with subcutaneous

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

    E-print Network

    Ober, Carole

    1/13 Clinical Features: Prader-Willi syndrome (PWS) [OMIM #176270] is a genetic disorder which, and a characteristic facial appearance consisting of a thin upper- lip, down-turned mouth, dental crowding, and almond to 25% [2]. Additional Resources: Prader-Willi Syndrome Association 5700 Midnight Pass Road, Suite 6

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

    E-print Network

    Das, Soma

    1/13 Clinical Features: Prader-Willi syndrome (PWS) [OMIM #176270] is a genetic disorder which, and a characteristic facial appearance consisting of a thin upper- lip, down-turned mouth, dental crowding, and almond to 25% (2). Additional Resources: Prader-Willi Syndrome Association 5700 Midnight Pass Road, Suite 6

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

    E-print Network

    Gilad, Yoav

    6/11 Clinical Features: Prader-Willi syndrome (PWS) [OMIM #176270] is a genetic disorder which, and a characteristic facial appearance consisting of a thin upper- lip, down-turned mouth, dental crowding, and almond to 25% [2]. Additional Resources: Prader-Willi Syndrome Association 5700 Midnight Pass Road, Suite 6

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

    E-print Network

    Das, Soma

    3/10 Clinical Features: Prader-Willi syndrome (PWS) [OMIM #176270] is a genetic disorder which, and a characteristic facial appearance consisting of a thin upper- lip, down-turned mouth, dental crowding, and almond to 25% [2]. Additional Resources: Prader-Willi Syndrome Association 5700 Midnight Pass Road, Suite 6

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

    E-print Network

    Gilad, Yoav

    3/10 Clinical Features: Prader-Willi syndrome (PWS) [OMIM #176270] is a genetic disorder which, and a characteristic facial appearance consisting of a thin upper- lip, down-turned mouth, dental crowding, and almond Resources: Prader-Willi Syndrome Association 5700 Midnight Pass Road, Suite 6 Sarasota, FL 34242 Phone: 800

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

    PubMed Central

    Connaghan, Kathryn P.; Moore, Christopher A.

    2014-01-01

    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 spastic cerebral palsy; n = 10) and controls (n = 11). Two measures were used to infer jaw tension: a kinematic index of mass-normalized stiffness and electromechanical delay (EMD). The kinematic index used video-based kinematics to obtain the slope of the peak velocity-displacement relationship. The EMD was derived from the interval between the onset of suprahyoid muscle activity and the onset of jaw depression. Results Neither measure differentiated the groups. The kinematic index revealed differences between stressed and unstressed syllables in 3-syllable productions by the participants with cerebral palsy and controls, but not in 2-syllable productions by the participants with Down syndrome and controls. Conclusion This preliminary investigation included the novel application of 2 measures to infer the jaw-muscle tension of children with suspected tone abnormalities. Although the results do not support the hypothesis that suspected muscle-tone abnormalities affect jaw movement sufficiently to influence speech production, considerations for interpreting the findings include methodological limitations and possible compensatory muscle coactivation. PMID:22653916

  20. 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…

  1. 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

  2. Short gamma-ray bursts near and far.

    PubMed

    Levan, Andrew J

    2007-05-15

    Progress in understanding the nature of short gamma-ray bursts (GRBs) has been rapid since the discovery of the first afterglows in mid-2005. The emerging picture appears to be of short GRBs, which originate at moderate redshift (a few tenths) and appear in galaxies of all ages. This discovery has been used to argue for their origin in compact binary mergers. However, this population does not describe all short bursts. Here, I will present results of observations of several short GRBs, which challenge the conclusions drawn from the early observations. The observations show that some short GRBs originate in the very low redshift Universe (below 100Mpc), while some may also lie at redshifts comparable with the long GRBs (i.e. z>2). I will discuss the properties of these bursts and the implications they have for the progenitors of short GRBs. PMID:17293330

  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. Short-term energy outlook, April 1999

    SciTech Connect

    NONE

    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.

  5. Short pulse phenomena produced with long pulses

    NASA Astrophysics Data System (ADS)

    Hernández, J. V.; Esry, B. D.

    2011-06-01

    We have found a way to produce to phenomena usually associated with ultrashort laser pulses using surprisingly long pulses. For example, the spatial asymmetry of a dissociating molecule has been observed to vary with the CEP for very short intense pulses [1-3]. By using chirped pulses with large bandwidths, however, our calculations show large, CEP-dependent asymmetry in dissociating H2^+ even for 100 fs long pulses. This effect is also shown in the spatial asymmetry of an ionized atomic target. We also find varying the bandwidth and the direction of the chirp of the pulse can affect another multi-photon process, zero-photon dissociation of H2^+ [4]. While it is not obvious how these unexpected phenomena can be explained in the usual time-dependent, field-based picture, their explanation in terms of a photon picture is rather straightforward, underscoring its utility even in the strong field regime. [1] M. F. Kling et al., Science 312, 246 (2006). [2] M. Kremer et al., Phys. Rev. Lett. 103, 213003 (2009). [3] V. Roudnev, B. D. Esry, and I. Ben-Itzhak, Phys. Rev. Lett. 93, 163601 (2004). [4] J. H. Posthumus et al. J. Phys. B: At. Mol. Opt. Phys. 28, 623 (2004).

  6. Child Dental Neglect: A Short Review

    PubMed Central

    Ramazani, Nahid

    2014-01-01

    Context: Child dental neglect is a terrible tragedy with a high prevalence. Dealing with this issue is important regarding psychological and physical health policies. The current review was conducted to provide health professionals insight into the different aspects of child dental neglect as reported in previous literature. Evidence Acquisition: Our review was prepared through an electronic search using Pub Med, Science Direct, Medline, Google, Cochran Library, Google Scholar and EMBASE databases. Relevant papers published since 2000 until now in English, discussing child dental neglect were retrieved. Both original and review papers were included. Eligible articles were fully read by the author. A data form was used to record useful findings. Results: Distinguishing the direct and indirect signs of dental neglect is the first step for improvement of this matter. The dental team are the main professionals who can improve parental knowledge about the consequences of child dental neglect. Victims suffer from short and long-term adverse outcomes. Collaborative attempts need to be made by different health professionals to deal with this problem. Conclusions: Child dental neglect has many long-term impacts. The main professionals who are responsible for identification, intervention and treatment of child dental neglect are dental practitioners. However, other professionals cannot ignore this task. Finally, child dental neglect, despite its derivative outcomes, may be a presentation of a broader maltreatment. PMID:25741483

  7. Efficient subframe video alignment using short descriptors.

    PubMed

    Evangelidis, Georgios D; Bauckhage, Christian

    2013-10-01

    This paper addresses the problem of video alignment. We present efficient approaches that allow for spatiotemporal alignment of two sequences. Unlike most related works, we consider independently moving cameras that capture a 3D scene at different times. The novelty of the proposed method lies in the adaptation and extension of an efficient information retrieval framework that casts the sequences as an image database and a set of query frames, respectively. The efficient retrieval builds on the recently proposed quad descriptor. In this context, we define the 3D Vote Space (VS) by aggregating votes through a multiquerying (multiscale) scheme and we present two solutions based on VS entries; a causal solution that permits online synchronization and a global solution through multiscale dynamic programming. In addition, we extend the recently introduced ECC image-alignment algorithm to the temporal dimension that allows for spatial registration and synchronization refinement with subframe accuracy. We investigate full search and quantization methods for short descriptors and we compare the proposed schemes with the state of the art. Experiments with real videos by moving or static cameras demonstrate the efficiency of the proposed method and verify its effectiveness with respect to spatiotemporal alignment accuracy. PMID:23969383

  8. Short wavelength chemical laser status update

    NASA Astrophysics Data System (ADS)

    Patterson, S. P.; Duncan, W. A.; Graves, B. R.; Perram, Glen; Jones, C. R.

    Future high energy laser weapon systems will require very high brightness levels. Two short wavelength chemical lasers (SWCLs), the chemical oxygen iodine laser and hydrogen fluoride overtone, are already becoming candidates for strategic missions. This paper will discuss chemical lasers operating at still shorter wavelengths in and near the visible. These lasers offer potential for even further brightness enhancements. Since, for constant output energy, the brightness of a laser scales inversely with the square of its wavelength, SWCLs offer potential system benefits. Gain measurements have been made on several SWCL candidates, but these devices are still in the developmental stage and require further demonstration and scaling before they can become viable candidates to perform strategic missions. The Strategic Defense Initiative Organization (SDIO) sponsors research in a number of the more promising SWCL technology areas through its agents at the Air Force Office of Scientific Research (AFOSR) and the U.S. Army Missile Command (MICOM). This paper provides an overview of the status of research and experiments aimed at developing visible SWCLs.

  9. Continuity of Landsat observations: Short term considerations

    USGS Publications Warehouse

    Wulder, M.A.; White, J.C.; Masek, J.G.; Dwyer, J.; Roy, D.P.

    2011-01-01

    As of writing in mid-2010, both Landsat-5 and -7 continue to function, with sufficient fuel to enable data collection until the launch of the Landsat Data Continuity Mission (LDCM) scheduled for December of 2012. Failure of one or both of Landsat-5 or -7 may result in a lack of Landsat data for a period of time until the 2012 launch. Although the potential risk of a component failure increases the longer the sensor's design life is exceeded, the possible gap in Landsat data acquisition is reduced with each passing day and the risk of Landsat imagery being unavailable diminishes for all except a handful of applications that are particularly data demanding. Advances in Landsat data compositing and fusion are providing opportunities to address issues associated with Landsat-7 SLC-off imagery and to mitigate a potential acquisition gap through the integration of imagery from different sensors. The latter will likely also provide short-term, regional solutions to application-specific needs for the continuity of Landsat-like observations. Our goal in this communication is not to minimize the community's concerns regarding a gap in Landsat observations, but rather to clarify how the current situation has evolved and provide an up-to-date understanding of the circumstances, implications, and mitigation options related to a potential gap in the Landsat data record. ?? 2010.

  10. 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.

  11. Short Rotation Woody Crops Program: Project summaries

    SciTech Connect

    Not Available

    1986-11-01

    This document is a compilation of summaries describing research efforts in the US Department of Energy's Short Rotation Woody Crops Program (SRWCP). The SRWCP is sponsored by DOE's Biofuels and Municipal Waste Technology Division and is field-managed at Oak Ridge National Laboratory. The SRWCP is an integrated basic research program with 18 field research projects throughout the United States. The overall objective of the program is to improve the productivity and increase the cost efficiency of growing and harvesting woody trees and shrubs. In a competitive technical review, 25 projects were chosen to form a new research program. Although some of the original projects have ended and new ones have begun, many of the long-term research projects still form the core of the SRWCP. This document contains individual summaries of each of the 18 research projects in the SRWCP from October 1985 to October 1986. Each summary provides the following information: name and address of the contracting institution, principal investigator, project title, current subcontract or grant number, period of performance, and annual funding through fiscal year 1986. In addition, each summary contains a brief description of the project rationale, objective, approach, status, and future efforts. A list of publications that have resulted from DOE-sponsored research follows many of the summaries.

  12. Svarna - vanga - a short duration toxicity study.

    PubMed

    Sharma; Gyaneshwar; Joshi, D; Aryya, N C; Pandey, V B

    1985-10-01

    Swarna - Vanga, an Ayurvedic preparation, is used in the treatment mainly of Pramehas (genitor urinary and metabolic disorders), Sveta Pradara (Leucorrhoea), Kasa - Swasa (Respiratory disorders), etc. The drug contains tin and sulphur as major components along with traces of mercury, iron and aluminum. According to modern point of view certain metals have been claimed toxic to both human and animal. Since Svarna - Vanga contains these metals, it is essential to screen out its toxic effect, if any, although it is claimed in Ayurveda that when a metal is processed as prescribed, it become non - toxic or the least toxic. Considering the above facts, an animal experiment was carried out for short duration (14 days) to screen the toxic effects of Svarna - Vanga (SV) in increasing doses of the drug starting from the maximum therapeutic dose (12.5 mg / 100 gm b.wt / day). The drug was found to have no toxic effects in tissues of the animal at doses of 12.5 mg and 25 mg / 100 gm b.wt. / day. Fine fatty vacuolization in liver and focal superficial mucosal degeneration and necrosis of small intestine confined to one animal each at dose of 50 mg / 100gm b.wt. and 100 mg/ 100 gm. b.wt. / day were observed. Our study indicates that the drug has no toxic effect on tissues at therapeutic dose. PMID:22557505

  13. Retroactive signaling in short signaling pathways.

    PubMed

    Sepulchre, Jacques-Alexandre; Merajver, Sofía D; Ventura, Alejandra C

    2012-01-01

    In biochemical signaling pathways without explicit feedback connections, the core signal transduction is usually described as a one-way communication, going from upstream to downstream in a feedforward chain or network of covalent modification cycles. In this paper we explore the possibility of a new type of signaling called retroactive signaling, offered by the recently demonstrated property of retroactivity in signaling cascades. The possibility of retroactive signaling is analysed in the simplest case of the stationary states of a bicyclic cascade of signaling cycles. In this case, we work out the conditions for which variables of the upstream cycle are affected by a change of the total amount of protein in the downstream cycle, or by a variation of the phosphatase deactivating the same protein. Particularly, we predict the characteristic ranges of the downstream protein, or of the downstream phosphatase, for which a retroactive effect can be observed on the upstream cycle variables. Next, we extend the possibility of retroactive signaling in short but nonlinear signaling pathways involving a few covalent modification cycles. PMID:22848403

  14. 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.

  15. 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

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

    PubMed Central

    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 biology and related fields. The article presents strategies for exploiting short terms as excellent venues for deep learning in the biological sciences. PMID:18056299

  17. Adaptation, Adjustment, And Awareness: Integrating Intercultural Theory Into Short Term

    E-print Network

    Amin, S. Massoud

    Adaptation, Adjustment, And Awareness: Integrating Intercultural Theory Into Short Term Programs and learn to apply it to various situations (6) Apply intercultural understanding when working effectively

  18. Short Paper: PEPSI: Privacy-Enhanced Participatory Sensing Infrastructure

    E-print Network

    Politécnica de Madrid, Universidad

    Short Paper: PEPSI: Privacy-Enhanced Participatory Sensing Infrastructure Emiliano De Cristofaro-secure guarantees. In this paper, we introduce PEPSI: Privacy- Enhanced Participatory Sensing Infrastructure. We

  19. Short Communication Satellite tracking highlights difficulties in the design

    E-print Network

    Exeter, University of

    Short Communication Satellite tracking highlights difficulties in the design of effective protected are concentrated near neritic breeding and nesting grounds. We used satellite telemetry to de- scribe patterns

  20. Short duration thermal metamorphism in CR chondrites

    NASA Astrophysics Data System (ADS)

    Briani, G.; Quirico, E.; Gounelle, M.; Paulhiac-Pison, M.; Montagnac, G.; Beck, P.; Orthous-Daunay, F.-R.; Bonal, L.; Jacquet, E.; Kearsley, A.; Russell, S. S.

    2013-12-01

    CR chondrites are considered as one of the most primitive classes of meteorites. Most of them experienced a mild aqueous alteration and show no evidence of significant effect of thermal metamorphism. We present here a search for low degree metamorphic effects in CR chondrites. We studied 15 CR chondrites using different metamorphic indicators: (1) structure and Ni content of metal grains; (2) hydration state of matrix; (3) structure and composition of organic matter. The different metamorphic indicators show that two of the analyzed CR chondrites, GRA 06100 and GRO 03116, experienced thermal metamorphism. Indeed, all of the metal grains in GRA 06100 and half of the metal grains in GRO 03116 show Ni-rich phases; the matrix of GRA 06100 is almost completely dehydrated, and the matrix of GRO 03116 is partially dehydrated; Raman spectra of organic matter in these two meteorites are clearly different from those obtained for organic matter in the other CR chondrites, which resemble Raman spectra of organic matter in unmetamorphosed, CM2 meteorites; IR spectra of insoluble organic matter extracted from GRA 06100 and GRO 03116 show lower carbonyl abundance and higher CH2/CH3 ratio with respect to organic matter of unmetamorphosed chondrites. The other CR chondrites analyzed here lack these characteristics and only show a few metal grains with Ni-rich inclusions. Our results also show that the metamorphic effects observed in GRA 06100 and GRO 03116 are different from those observed in type 3 chondrites, which experienced long-duration metamorphism of radiogenic origin. We infer that thermal processing in these two CRs extended over a short duration and was triggered by impacts.

  1. [Histochemical diagnosis of short segment Barrett's esophagus].

    PubMed

    Fujiyama, Yoshihide; Ishizuka, Izumi; Koyama, Shigeki

    2005-08-01

    Recently, we have many chances of findings of Barrett's esophagus in routine endoscopic examination. It is also reported that we have few frequent findings of typical Barrett's esophagus, long segment Barrett's esophagus (LSBE) which is seen predominantly in Europe and United States, however the frequency of finding of short segment Barrett's esophagus (SSBE) and adenocarcinoma derived from SSBE is gradually increasing in Japan. So it is thought that precise diagnosis of SSBE and the evaluation of potential malignancy of SSBE are needed in the present medical management. The present study has shown the differences of characteristics of mucinous contents and malignant potentials between in SSBE and LSBE by use of biopsy specimen taken by endoscopic procedure. It is well known that Barrett's epithelium is categorized gastric fundic type, junctional type and specialized columnar epithelium, especially Barrett's mucosa is characterized by specialized columnar epithelium, e. g. incomplete epithelial type of intestinal metaplasia. We have set up two characteristic groups, gastric mucin dominant and intestinal mucin dominant by using specific mucin staining for MUC2, MUC5AC, Con A and CD10. In results, we confirmed that 80% of specialized columnar epithelia revealed intestinal mucin dominant in LSBE and 77% revealed gastric mucin dominant as compared with 23%, intestinal mucin dominant. Moreover, we have examined the ability of cell proliferation using Ki67-immunostaining in Barrett's epithelia. It was demonstrated that positive immunoactivity of Ki67 in proliferative zone was shown in 37.5% of gastric mucin dominant and 76.5% of intestinal mucin dominant. The results described above suggested that specialized columnar epithelia with intestinal mucin dominant have a higher potential of malignant transformation. We concluded that the evaluation of characteristics of mucinous contents in specialized columnar epithelia plays an important role in determination of high risk group of carcinogenesis in the case of SSBE. PMID:16101233

  2. NASA's Deep Impact to Meet Comet Shortly

    NSDL National Science Digital Library

    On July 4th at 1:52 AM Eastern Standard Time, a massive probe launched by NASA is scheduled to forcibly collide at the speed of 23,000 mph with the comet Tempel 1. This very intriguing project is part of the Deep Impact project, and it is hoped that the images transmitted by the probe will afford new insights into conditions in the early solar system. So far, the closest that scientists have come to a comet was when a previous NASA mission probe passed with 167 miles of the comet Wild 2 in 2004. The information sent back from the probe and its mothership will at the very least hopefully answer some basic questions about comets, such as whether or not comets are comprised of compact matter or more akin to snow cones. Needless to say, astronomers are becoming quite excited about the prospects of seeing such an event, though it is highly unlikely that the average observer on Earth will be able to see much without a well-trained telescope.The first link offered here is from Tuesday's New York Times, and provides some very thoughtful insights into this important mission. The second link leads to a USA Today article on the nature of the Deep Impact project, along with an animated look at Deep Impact's upcoming encounter with Tempel 1. The third link leads to a Chicago Sun-Times piece about the â??kaboomâ?ť effect of this portentous meeting between probe and comet. The fourth link leads to a San Jose Mercury News news article that discusses the efforts of astronomers to view this historic event. The fifth link leads to the very fine homepage developed by NASA to provide extensive information about the Deep Impact mission, complete with visualizations, short video clips, and technical information. The final link leads to a similar type of site offered by the people at Space.com.

  3. 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.

  4. SHORT DYNAMIC FIBRILS IN SUNSPOT CHROMOSPHERES

    SciTech Connect

    Rouppe van der Voort, L. [Institute of Theoretical Astrophysics, University of Oslo, P.O. Box 1029 Blindern, N-0315 Oslo (Norway); De la Cruz Rodríguez, J. [Department of Physics and Astronomy, Uppsala University, Box 516, SE-75120 Uppsala (Sweden)

    2013-10-10

    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.

  5. 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

  6. HOW SHORT IS TOO SHORT ACCORDING TO PARENTS OF PRIMARY CARE PATIENTS

    PubMed Central

    Cousounis, Pamela A.; Lipman, Terri H.; Ginsburg, Kenneth; Cucchiara, Andrew J; Grimberg, Adda

    2014-01-01

    Objective Height is a physical trait on a continuum. The threshold between normal and abnormal is arbitrarily set, potentially influencing medical decision-making. We sought to examine parents’ perceptions of adult heights and associated demographic factors. Methods Parents of pediatric primary care patients of various heights completed a one-time survey. Parents answered, “How short is too short?” for adult males and females. Results were summarized as median [interquartile range]. Factors significantly associated with height threshold by simple linear regression were included in a multivariable mixed effects analysis of covariance model. Results 1820 surveys were completed (83% response rate; 1587 female, 231 male). Median threshold height deemed too short for adult females was 56 inches [48, 59] among male respondents and 57 inches [50, 60] among female (p<.05). Median threshold height for adult males was 61 inches among males [60, 64] and females [59, 66] (p<.05). The median of male minus female heights per respondent (delta heights) was 5 [2, 7] inches. Factors found to be significant main effects in a parsimonious model were sex of adult considered, height of respondent, sex of respondent, respondent race, primary care practice, income and having concerns about their child's height. Conclusion Taller acceptable height thresholds were perceived by respondents who were taller, wealthier, white, female, from non-urban practices or who had a personal concern about their child's height. Male heights were expected to be taller than female. Such traits may influence who is concerned and more likely to seek medical treatment for their children. PMID:24936551

  7. On the Consistency of Individual Classification Using Short Scales

    ERIC Educational Resources Information Center

    Emons, Wilco H. M.; Sijtsma, Klaas; Meijer, Rob R.

    2007-01-01

    Short tests containing at most 15 items are used in clinical and health psychology, medicine, and psychiatry for making decisions about patients. Because short tests have large measurement error, the authors ask whether they are reliable enough for classifying patients into a treatment and a nontreatment group. For a given certainty level,…

  8. Three Models for Short-Term Study Abroad

    ERIC Educational Resources Information Center

    Sachau, Daniel; Brasher, Niel; Fee, Scott

    2010-01-01

    Nearly 250,000 U.S. college students participate in study abroad programs each year. A growing proportion of students are participating in short-term study abroad programs. Despite the large number of students in these programs, there are relatively few articles that describe how to start or manage a short-term, business-related, study abroad…

  9. RESEARCH Open Access Short term Candida albicans colonization reduces

    E-print Network

    Boyer, Edmond

    RESEARCH Open Access Short term Candida albicans colonization reduces Pseudomonas aeruginosa-acquired pneumonia (VAP). Candida tracheobronchial colonization is associated with higher rates of VAP related to P. aeruginosa. This study was designed to investigate whether prior short term Candida albicans airway

  10. 75 FR 24497 - Short-Term, Small Amount Loans

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-05-05

    ...12 CFR Part 701 RIN 3133-AD71 Short-Term, Small Amount Loans AGENCY: National...credit unions (FCUs) to offer short-term, small amount loans (STS loans) as a...will impose limitations on the permissible term, amount, and fees associated with...

  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. An Examination of the Short Need for Cognition Scale

    Microsoft Academic Search

    Cyril J. Sadowski

    1993-01-01

    The 18-item short Need for Cognition Scale (NCS; Cacioppo, Petty, & Kao, 1984) was administered to 708 female and 510 male undergraduates. Consistent with the findings of Cacioppo et al., a principal components analysis indicated one dominant factor. The findings also suggest that the short NCS is relatively gender neutral in this homogeneous population.

  13. Short-term energy outlook annual supplement, 1993

    SciTech Connect

    NONE

    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.

  14. ORIGINAL CONTRIBUTION Ozone and Short-term Mortality

    E-print Network

    Dominici, Francesca

    ORIGINAL CONTRIBUTION Ozone and Short-term Mortality in 95 US Urban Communities, 1987-2000 MichelleD E XPOSURE TO TROPOSPHERIC OZONE is widespread in the United States,1,2 occurring also outside southernCalifornia,whereozone formation was first recognized.3 Short- term exposure to ozone has been

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

    E-print Network

    Short, Daniel

    that Arsenic in Pennsylvanian groundwater supplies is generally found at concentrations thorough evaluation of the regions groundwater quality is suggested. Key words: Arsenic, groundwaterShort, D.B. 1 Ground Water Contamination by Arsenic in South-Western Pennsylvania Short, D

  16. 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…

  17. Why do people use their cars for short trips?

    Microsoft Academic Search

    Roger L. Mackett

    2003-01-01

    The number of short trips by car is increasing. The objective of this paper is to look at why people use their cars for such trips. The paper draws upon the results of surveys carried out as part of a project for the Department of the Environment, Transport and the Regions (DETR) to investigate the potential for switching short car

  18. Short Single Axioms for Boolean Algebra William McCune

    E-print Network

    McCune, William

    Short Single Axioms for Boolean Algebra William McCune Mathematics & Computer Science Division.) Abstract. We present short single equational axioms for Boolean algebra in terms of disjunction and negation and in terms of the Sheffer stroke. Previously known single axioms for these theories are much

  19. A Short Sheffer Axiom for Boolean Algebra Robert Veroff \\Lambda

    E-print Network

    Veroff, Robert

    A Short Sheffer Axiom for Boolean Algebra Robert Veroff \\Lambda Computer Science Department://www.mcs.anl.gov/�mccune June 2000 Abstract A short Sheffer stroke identity is shown to be a single axiom for Boolean alge­ bra. The axiom has length 15 and 3 variables. The proof shows that it is equivalent to Sheffer's original 3­basis

  20. Laser induced short plane acoustic wave focusing in water

    Microsoft Academic Search

    Seung H. Ko; Sang G. Ryu; Nipun Misra; Heng Pan; Costas P. Grigoropoulos; Nick Kladias; Elias Panides; Gerald A. Domoto

    2007-01-01

    Laser induced high frequency acoustic wave generation, propagation, and focusing in water are studied. A large area, flat, and short duration acoustic wave was generated by the thermoelastic interaction of a homogenized short pulsed laser beam with the liquid-solid interface and propagated at the speed of sound. Laser flash Schlieren photography was used to visualize the transient interaction of the