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1

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

PubMed Central

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.

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

2

Short stature  

MedlinePLUS

... the womb ( intrauterine growth restriction ) or small for gestational age This list does not include every possible cause ... 3 inches. The child was born small for gestational age Some boys with short stature who also have ...

3

Syndromic disorders with short stature.  

PubMed

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

??klar, Zeynep; Berbero?lu, Merih

2014-01-01

4

Syndromic Disorders with Short Stature  

PubMed Central

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

S?klar, Zeynep; Berberoglu, Merih

2014-01-01

5

Yq deletion, aspermia, and short stature  

Microsoft Academic Search

A large Yq deletion involving both the fluorescent and part of the non-fluorescent segment in a 36-year-old phenotypic normal male is presented. His short stature and aspermia gives strong support, after a complete review of the literature, to the existence of factors involved in the control of both characteristics in the non-fluorescent segment of the long arm of chromosome Y,

Emilio Yunis; Francisco L. García-Conti; Olga María Torres de Caballero; Alejandro Giraldo

1977-01-01

6

Psychological Criteria for Treating Children with Idiopathic Short Stature  

Microsoft Academic Search

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

Monika Bullinger

2011-01-01

7

Short Stature due to SHOX Deficiency: Genotype, Phenotype, and Therapy  

Microsoft Academic Search

SHOX deficiency is a frequent cause of short stature. The short stature homeobox-containing gene resides in the telomeric PAR1 region on the short arm of both sex chromosomes and escapes X inactivation. For this review, abstracts of 207 publications presented by PubMed for the search term ‘SHOX’ were screened. Heterozygote SHOX mutations (80% deletions) were detected in 2–15% of individuals

Gerhard Binder

2011-01-01

8

Debate: idiopathic short stature should be treated with growth hormone.  

PubMed

In this paper we outline the case for and against the treatment of idiopathic short stature with growth hormone. Drs Ambler and Fairchild argue that many of those with 'idiopathic' short stature are not 'short, normal children' and will ultimately receive molecular diagnoses. They also argue that there is a subset of children who suffer negative psychosocial consequences of their stature for whom growth hormone therapy is effective. Growth hormone has a very good safety record and is likely to be as cost-effective in idiopathic short-stature as in some other conditions that are currently funded. Dr Wilkinson counters that short stature is not associated with physical or psychological illness, and that there is no evidence that growth hormone improves psychological or physical wellbeing. Moreover, growth hormone for idiopathic short stature represents a form of enhancement rather than treatment, and is not a fair use of resources. Socially mediated disadvantage should be treated by attention to prejudice and not by hormone treatment. PMID:22582941

Ambler, Geoffrey R; Fairchild, Jan; Wilkinson, Dominic J C

2013-03-01

9

Short stature and gestational diabetes in Brazil  

Microsoft Academic Search

Aims\\/hypothesis. To examine the association between maternal stature and gestational diabetes mellitus.¶Methods. We studied a sample of 5564 consecutive Brazilian women 20 or more years old, who were pregnant for approximately 21–28\\u000a weeks, had no history of diabetes outside pregnancy and were attending general prenatal care units in six state capitals in\\u000a Brazil from 1991 to 1995. We did a

L. Branchtein; M. I. Schmidt; M. C. G. Matos; T. Yamashita; J. M. D. C. Pousada; B. B. Duncan

2000-01-01

10

Chromosome abnormalities in Indonesian patients with short stature  

PubMed Central

Background Short stature is associated with several disorders including wide variations of chromosomal disorders and single gene disorders. The objective of this report is to present the cytogenetic findings in Indonesian patients with short stature. Methods G-banding and interphase/metaphase FISH were performed on short stature patients with and without other clinical features who were referred by clinicians all over Indonesia to our laboratory during the year 2003–2009. Results The results of chromosomal analysis of ninety seven patients (mean age: 10.7 years old) were collected. The group of patients with other clinical features showed sex chromosome abnormalities in 45% (18/40) and autosomal abnormalities in 10% (4/40), whereas those with short stature only, 42.1% (24/57) had sex chromosome abnormalities and 1.75% (1/57) had autosomal abnormalities. The autosomal chromosomal abnormalities involved mostly subtelomeric regions. Results discrepancies between karyotype and FISH were found in 10 patients, including detection of low-level monosomy X mosaicism in 6 patients with normal karyotype, and detection of mosaic aneuploidy chromosome 18 in 1 patient with 45,XX,rob(13;14)(q10;q10). Statistical analysis showed no significant association between the groups and the type of chromosomal abnormalities. Conclusion Chromosome abnormalities account for about 50% of the short stature patients. Wide variations of both sex and autosomal chromosomes abnormalities were detected in the study. Since three out of five patients had autosomal structural abnormalities involving the subtelomeric regions, thus in the future, subtelomeric FISH or even a more sensitive method such as genomic/SNP microarray is needed to confirm deletions of subtelomeric regions of chromosome 9, 11 and 18. Low-level mosaicism in normal karyotype patients indicates interphase FISH need to be routinely carried out in short stature patients as an adjunct to karyotyping.

2012-01-01

11

Short stature at the University College Hospital, Ibadan, Nigeria.  

PubMed

Twenty four patients were evaluated for short stature at the University College Hospital, Ibadan, Nigeria, over a seven year period. Fourteen were males, 10 were females and their ages ranged from 6 to 23 years at first presentation. Nine out of the 10 females came to the hospital primarily because of failure of sexual development whereas only 1 of the 14 males presented with this complaint. The causes of short stature were as follows: idiopathic hypopituitarism in 5 (20.8%) patients (4 males, 1 female), gonadal dysgenesis in 5 patients (all females), syndrome of hepatosplenomegaly, dwarfism and poor sexual development in 5 patients (all males); 2 (8.3%) patients had hypothalamic-pituitary lesions, 2 had juvenile hypothyroidism and 1 (4.2%) had sickle cell hemoglobinopathy; the cause of the short stature was not certain in 4 (16.7%) patients. This is perhaps the first time that the syndrome of hepatosplenomegaly of uncertain etiology with delayed growth and sexual maturation previously reported in Iranian and Egyptian adolescents, is being described in black Africans. Although comprehensive hormonal data were not available in most of these patients, this clinical descriptive study is the first attempt at reporting some of the causes of short stature in Nigerians. PMID:1637743

Famuyiwa, O O

1992-01-01

12

Hypoglossia-Hypodactyly Syndrome with Short Stature - A Case Report  

PubMed Central

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

Goyal, Manisha; Singh, Ankur; Singh, Pratiksha

2014-01-01

13

Short stature in child with early-onset diabetes.  

PubMed

We present a girl who initially presented at 12 weeks of age with antibody negative diabetes. Genetic screening for common mutations of monogenic diabetes was negative. She was noted to have short stature at 8 years of age (height <0.4 centile), as well as overlapping toes and distal abnormalities of her fingers. On reevaluation, further investigation revealed an EIF2AK3 mutation, and a diagnosis of Wolcott Rallison syndrome was made. This case highlights the importance of close follow up of patients with neonatal diabetes for the development of syndromic features that may lead to a unifying diagnosis. PMID:23644647

Hawkes, C P; McGlacken-Byrne, S M; Murphy, N P

2013-09-01

14

[Guideline for preventive child health care: 'Detection and referral criteria in short stature'].  

PubMed

The main goal of this guideline for preventive child health care (PCHC) is to improve early detection of disorders that induce short stature. Based on research, evidence-based referral criteria for children aged 0-10 years with a short stature were formulated. These criteria are important for all professionals working with children, such as PCHC, general practitioners and paediatricians. Previous referral criteria dated 1997 and titled 'Diagnostics of short stature in children' had a very low specificity and were therefore considerably revised. They should no longer be applied. The guideline also provides information on the cause of short stature, psychosocial aspects and the use of growth hormone. PMID:21429263

Kamphuis, Mascha; Obenhuijsen, Nen Heerdink; van Dommelen, Paula; van Buuren, Stef; Verkerk, Paul H

2010-01-01

15

Short Stature and Turner Skeletal Features in an 11-Year-Old Boy with a Ring Y Chromosome Missing the Short Stature Homeobox Containing Gene  

PubMed Central

We report on an 11-yr-old boy with short stature and Turner skeletal features. Chromosome analysis revealed a 46,X,r(Y)(p11.3q11.2) karyotype, and FISH analysis showed loss of the Short stature homeobox containing gene (SHOX) from the ring Y chromosome. The results are consistent with the association of SHOX haploinsufficiency with short stature and Turner skeletal features, and suggest the importance of SHOX analysis in boys with Turner-like skeletal phenotype.

Tanaka, Masayuki; Ohmizono, Yoshikazu

2005-01-01

16

[Disorders of the stomatognathic system in patients with short stature].  

PubMed

Growth hormone (GH) is a polypeptide hormone produced by the cells of pituitary. Production of growth hormone is carried out in a pulsating manner, and the frequency and intensity of the pulses is dependent on age and gender. Growth hormone deficiency (GHD) is characterized by, among others, slow growth process often from early childhood, delayed bone age. The aim of the study was to describe dental problems of children with short stature with a special attention on disorders at the craniofacial region such as decreased growth of maxilla and mandible, gnathic and bite dysfunctions, delayed teeth eruption, tooth caries susceptibility. Growth hormone treatment undertaken at the right time significantly influences on correct development of cranial bones and dentition, and supports orthodontic treatment. PMID:24645583

Partyka, Ma?gorzata; Dunin-Wilczy?ska, Izabella; Cha?as, Renata

2014-01-01

17

Unresolving Short Stature in a Possible Case of Mucopolysccharidosis  

PubMed Central

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

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

2014-01-01

18

Prevalence of Mutations in the FGFR3 Gene in Individuals with Idiopathic Short Stature  

PubMed Central

FGFR3 (fibroblast growth factor receptor 3) is a gene responsible for the most common form of osteodysplasia, achondroplasia, which results in extreme short stature. An allelic disorder, hypochondroplasia, however, presents with a much milder phenotype and is sometimes indistinguishable from idiopathic short stature. In this study, in order to test the possibility of the mildest end of hypochondroplasia being labeled as idiopathic short stature and the possibility of polymorphism of FGFR3 acting as one of the stature genes of normal individuals, we examined the prevalence of sequence alterations of the FGFR3 gene among individuals diagnosed clinically with idiopathic short stature. Sequencing analysis of all exons of the FGFR3 gene on 54 individuals with idiopathic short stature did not reveal any sequence variations related to the stature of the individuals. These results suggest that hidden hypochondroplasia among idiopathic short stature individuals is not a common occurrence and the contribution of polymorphism of the FGFR3 gene as a determinant of stature in normal individuals is small if any.

Mamada, Mitsukazu; Yorifuji, Tohru; Kurokawa, Keiji; Kawai, Masahiko; Momoi, Toru; Nakahata, Tatsutoshi

2006-01-01

19

Short stature caused by a natural growth hormone antagonist.  

PubMed

Severe short stature in a male child due to a single mutation in the GH-1 gene was first reported in 1996 by Takahashi et al. [N Engl J Med 1996;334:432-436]. This missense mutation was predicted to convert codon 77 from arginine (R) to cysteine (C). The child's chronological age was 4 years and 11 months, and his bone age 2 years and 6 months, i.e., equal to only 51% of his chronological age. Body proportions were normal except for the prominent forehead and saddle nose. Pituitary size was normal on magnetic resonance imaging examinations. Serum IGF-1, IGFBP-3 and GHBP were all decreased or at the lower limit of the normal range. Nocturnal urinary growth hormone (GH) excretion was high. Isoelectric focusing analysis revealed the presence of an abnormal GH peak in addition to the normal one. The R77C mutant GH possessed a 6 times greater affinity to GHBP than the wild-type GH, and inhibited tyrosine phosphorylation in IM-9 cells 10 times more potently than the wild-type GH, showing an antagonistic or a dominant negative action. In agreement with the antagonistic property of the mutant GH exhibited, the child did not show any increase in serum IGF-1 levels after exogenous hGH administration. It should be noted that the child in this study is not a typical case of Kowarski syndrome in which endogenous GH is found to be simply bioinactive, as in the patient we recently described elsewhere. Therefore, this patient's condition should be categorized as a new syndrome of short stature caused by a natural GH antagonist. PMID:9554469

Chihara, K; Takahashi, Y; Kaji, H; Goji, K; Okimura, Y; Abe, H

1998-01-01

20

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

PubMed Central

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

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

2013-01-01

21

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

PubMed

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

Rogol, Alan D; Hayden, Gregory F

2014-05-01

22

Nail-Patella Syndrome Associated with Short Stature: A Case Series  

PubMed Central

Introduction. Nail-patella syndrome (NPS) is a rare genetic disorder that is characterized by a pleiotropic malformation affecting the nail, the skeleton, and occasionally the central nervous system and the kidneys. Case Presentation. We report two paediatric cases, which are of two sisters, who aged, respectively, two and five years. They are admitted to explore short stature. The initial clinical examination and radiologic findings confirmed the diagnosis of Nail-patella syndrome. Conclusion. Skeletal, ophthalmologic, and renal involvements were mostly associated with NPS. The association with short stature was exceptional.

Haddad, Samir; Ghedira-Besbes, Leila; Bouafsoun, Chahra; Hammami, Sabeur; Chouchene, Slaheddine; Ben Meriem, Chebil; Guediche, Mohamed-neji

2010-01-01

23

Safety of Growth Hormone Treatment in Pediatric Patients with Idiopathic Short Stature  

Microsoft Academic Search

Context: Recombinant human GH was approved by the United States Food and Drug Administration in 2003 for the treatment of idiopathic short stature (ISS). However, to date, the safety of GH in this patient population has not been rigorously studied. Objective:The objective of this study was to address the safety of GH treatment in children with ISS compared with GH

Charmian A. Quigley; Anne M. Gill; Brenda J. Crowe; Kristen Robling; John J. Chipman; Susan R. Rose; Judith L. Ross; Fernando G. Cassorla; Anne M. Wolka; Jan M. Wit; T. M. Rekers-Mombarg; Gordon B. Cutler; Eli Lilly

24

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

PubMed

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

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

2013-12-01

25

Different Skeletal Phenotypes in a Mother and Two Daughters with Short Stature Homeobox-Containing Haploinsufficiency  

PubMed Central

Haploinsufficiency of the short stature homeobox-containing (SHOX) gene causes Turner skeletal features such as short metacarpals, cubitus valgus, and Madelung deformity. We report the clinical findings of a Japanese family consisting of two daughters with SHOX haploinsufficiency (46, X, del(X) (p.22.3)) and their mother with 45,X [9]/ 46, X, del(X) (p22.3) [11] karyotype. Physical and auxological examinations revealed a mesomelic appearance, cubitus valgus, a short neck and short stature in the daughters, but on the other hand, only a short neck and short stature in the mother. Radiological studies indicated markedly curved radii in the daughters, but only mild curvature of the radii in the mother. Regular menstruation had taken place since the age of 12 yr in the elder daughter, but the mother had irregular menstruation and she had received fertility treatment for pregnancy. The different skeletal phenotypes of the mother and her daughters with SHOX haploinsufficiency might be due to the mild gonadal estrogen deficiency found in the mother, which was caused by mosaic Turner syndrome, and the phenotypic variability of SHOX haploinsufficiency.

Nagasaki, Keisuke; Kikuchi, Toru; Uchiyama, Makoto

2007-01-01

26

Deletion of the SHOX gene in patients with short stature of unknown cause.  

PubMed

A fluorescence in situ hybridization (FISH) study was performed in 56 patients with short stature of unknown cause in order to establish the role of deletion of the SHOX gene in this population. FISH analysis was carried out on metaphase spreads and interphase lymphocytes from blood smears using a probe specific for the SHOX gene. Deletion of SHOX was found in four patients (7.1%). No skeletal abnormalities were detected in these patients either at the physical examination or at X-rays of the upper and lower limbs. Present results indicate that SHOX plays an important role also in short stature of unknown cause, and FISH analysis appears as an easy, appropriate, and inexpensive method for the detection of SHOX deletion. PMID:12784295

Morizio, E; Stuppia, L; Gatta, V; Fantasia, D; Guanciali Franchi, P; Rinaldi, M M; Scarano, G; Concolino, D; Giannotti, A; Verrotti, A; Chiarelli, F; Calabrese, G; Palka, G

2003-06-15

27

Impact of growth hormone therapy on adult height of children with idiopathic short stature: systematic review  

Microsoft Academic Search

Objective To systematically determine the impact of growth hormone therapy on adult height of children with idiopathic short stature.Design Systematic review.Data sources Cochrane Central Register of Controlled Trials, Medline, and the bibliographic references from retrieved articles of randomised and non-randomised controlled trials from 1985 to April 2010.Data extraction Height in adulthood (standard deviation score) and overall gain in height (SD

Annalisa Deodati; Stefano Cianfarani

2011-01-01

28

Growth Outcomes in Individuals with Idiopathic Short Stature Treated with Growth Hormone Therapy  

Microsoft Academic Search

The few studies that have evaluated the long-term height outcomes following growth hormone (GH) treatment in children with idiopathic short stature (ISS) have shown a growth response to GH treatment similar to that in GH-deficient children. A literature search of all randomized and nonrandomized studies of GH treatment in children with ISS from prepubertal years to adult height or near-adult

Jovanna Dahlgren

2011-01-01

29

Assessment of Fatigue in Pediatric Patients with Short Stature utilizing the PedsQL™ Multidimensional Fatigue Scale  

Microsoft Academic Search

The standardized multidimensional assessment of fatigue has not been previously conducted in pediatric patients with short stature. Consequently, the objective of the present exploratory study was to assess fatigue in a heterogeneous sample of pediatric patients with short stature utilizing the PedsQL™ Multidimensional Fatigue Scale. The 18-item PedsQL™ Multidimensional Fatigue Scale (General Fatigue, Sleep\\/Rest Fatigue, and Cognitive Fatigue domains) and

James W. Varni; Christine A. Limbers; William P. Bryant; Don P. Wilson

2012-01-01

30

Rare Copy Number Variants Are a Common Cause of Short Stature  

PubMed Central

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

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

2013-01-01

31

Short Stature Associated with Intrauterine Growth Retardation: Final Height of Untreated and Growth Hormone-Treated Children  

Microsoft Academic Search

Short term studies have demonstrated the acceleration of growth velocity after the administration of GH in short children born with intrauterine growth retardation (IUGR). We report the final heights of 70 IUGR children whose short stature was attributed to idiopathic GH deficiency (peak plasma GH ,10 ng\\/mL at 2 provocative tests) and treated with GH at a mean dosage of

REGIS COUTANT; JEAN-CLAUDE CAREL; MURIEL LETRAIT; CLAIRE BOUVATTIER; PIERRE CHATELAIN; JOEL COSTE; JEAN-LOUIS CHAUSSAIN

2010-01-01

32

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

PubMed Central

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.

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

2012-01-01

33

Health-related quality of life and cognitive functioning in pediatric short stature: comparison of growth-hormone-naïve, growth-hormone-treated, and healthy samples  

Microsoft Academic Search

The objective of this study was to evaluate the impact of short stature on generic health-related quality of life (HRQOL)\\u000a and cognitive functioning in pediatric patients. Eighty-nine youth, 48 who were initially seen with short stature (SS group)\\u000a and 41 with a history of short stature being treated with growth hormone (GHT group) and one of their legal guardians participated

Matthew D. Stephen; James W. Varni; Christine A. Limbers; Michael Yafi; Rubina A. Heptulla; Venkat S. Renukuntla; Cynthia S. Bell; Patrick G. Brosnan

2011-01-01

34

Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect.  

PubMed

Leukocyte adhesion deficiency type II is a hereditary disorder of neutrophil migration caused by mutations in the guanosine diphosphate-fucose transporter gene (SLC35C1). In these patients, inability to generate key fucosylated molecules including sialyl Lewis X leads to leukocytosis and recurrent infections, in addition to short stature and developmental delay. We report two brothers with short stature and developmental delay who are compound heterozygotes for novel mutations in SLC35C1 resulting in partial in vivo defects in fucosylation. Specifically, plasma glycoproteins including immunoglobulin G demonstrated marked changes in glycoform distribution. While neutrophil rolling on endothelial selectins was partially impeded, residual adhesion proved sufficient to avoid leukocytosis or recurrent infection. These findings demonstrate a surprising degree of immune redundancy in the face of substantial alterations in adhesion molecule expression, and show that short stature and developmental delay may be the sole presenting signs in this disorder. PMID:24403049

Dauber, Andrew; Ercan, Altan; Lee, Jack; James, Philip; Jacobs, Pieter P; Ashline, David J; Wang, Sophie R; Miller, Timothy; Hirschhorn, Joel N; Nigrovic, Peter A; Sackstein, Robert

2014-06-01

35

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

PubMed Central

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.

2014-01-01

36

Rathke's cyst with ectopic neurohypophysis presenting as severe short stature with delayed puberty.  

PubMed

Ectopic neurohypophysis (EN) is found in nearly half of children with growth hormone deficiency (GHD). Rathke's cyst (RC) is uncommon in children and when present, hypopituitarism is found in nearly half of them. We present a fourteen and half-year-old girl with severe short stature and delayed puberty who on evaluation was found to have GHD, secondary hypocortisolism, and hypogonadism. Imaging revealed hypoplastic anterior pituitary, stalk agenesis, EN at tuber cinereum and intrapituitary RC. This is perhaps the first report of simultaneous occurrence of EN and RC, which was seen in a girl with multiple pituitary hormone deficiency. A primary defect in pituitary development may explain this simultaneous occurrence of EN and RC and hence this severe anterior pituitary function deficit. PMID:23565402

Dutta, Deep; Roy, Ajitesh; Ghosh, Sujoy; Mukhopadhyay, Pradip; Dasgupta, Ranen; Mukhopadhyay, Satinath; Chowdhury, Subhankar

2012-12-01

37

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

PubMed Central

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

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

2006-01-01

38

Short stature caused by a mutant growth hormone with an antagonistic effect.  

PubMed

The molecular basis of biologically inactive GH remained unclear until recently. We have very recently reported a child with short stature and a mutant GH caused by a single missense mutation in the GH-1 gene, which itself cannot transduce the GH-signal to the cells but can blunt the action of wild-type GH by virtue of its greater affinity for the GH binding protein (GHBP)/GH receptor. Briefly the clinical features of the patient are: At the age of 4.9 years his height was 81.7 cm (-6.1 SD) and bone age was 2 years. The patient's serum insulin-like growth factor-1 (IGF-1) concentration was 34 ng/ml. The basal serum GH concentration ranged from 7.0 to 14.0 ng/ml and peak concentrations after insulin hypoglycemia, arginine and L-dopa were 38.0, 15.0 and 35.0 ng/ml, respectively. A heterozygous single base substitution was identified in the GH-1 gene of the proband, predicted to convert codon 77 from arginine to cysteine. Isoelectric focusing revealed the presence of an abnormal GH peak in addition to a normal GH peak. The affinity of expressed mutant GH to GHBP was approximately 6 times higher than that of wild-type GH. The mutant GH not only failed to stimulate tyrosine phosphorylation by itself, but it also inhibited the activity of wild-type GH when added simultaneously even in a one tenth dose of wild-type GH. The child whom we reported is therefore the first case of short stature caused by mutant GH with an antagonistic effect. PMID:9076339

Takahashi, Y; Kaji, H; Okimura, Y; Goji, K; Abe, H; Chihara, K

1996-10-01

39

The SHOX gene and the short stature. Roundtable on diagnosis and treatment of short stature due to SHOX haploinsufficiency: how genetics, radiology and anthropometry can help the pediatrician in the diagnostic process Padova (April 20th, 2011).  

PubMed

The growth of the human body depends from a complex interaction between nutritional, environmental and hormonal factors and by a large number of different genes. One of these genes, short stature homeobox (SHOX), is believed to play a major role in growth. SHOX haploinsufficiency is associated with a wide spectrum of conditions, all characterized growth failure such as Leri-Weill dyschondrosteosis, Turner syndrome, short stature with subtle auxological and radiological findings and the so called "idiopathic short stature" (short stature with no specific findings other than growth failure). The document was prepared by a multidisciplinary team (paediatric endocrinologists, paediatrician, radiologist, geneticist and epidemiologist) to focus on the investigation of children with suspected SHOX- deficiency (SHOX-D) for an early identification and a correct diagnostic work - up of this genetic disorder. On the basis of a number of screening studies, SHOX-D appears to be a relatively frequent cause of short stature. The following recommendations were suggested by our multidisciplinary team: (i) a careful family history, measurements of body proportions and detection of any dysmorphic features are important for the suspect of a genetic disorder ,(ii)the presence of any combination of the following physical findings, such as reduced arm span/height ratio, increased sitting height/height ratio, above average BMI, Madelung deformity, cubitus valgus, short or bowed forearm, dislocation of the ulna at the elbow, or the appearance of muscular hypertrophy, should prompt the clinician to obtain a molecular analysis of the SHOX region, (iii) it is of practical importance to recognise early or mild signs of Madelung deformity on hand and wrist radiographs, (iv) growth hormone ,after stimulation test, is usually normal. However, treatment with rhGH may improve final adult height; the efficacy of treatment is similar to that observed in those treated for Turner syndrome. PMID:23304810

De Sanctis, Vincenzo; Tosetto, Ilaria; Iughetti, Lorenzo; Antoniazzi, Franco; Clementi, Maurizio; Toffolutti, Tiziana; Facchin, Paola; Monti, Elena; Pisanello, Lorena; Tonini, Giorgio; Greggio, Nella A

2012-08-01

40

Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain  

Microsoft Academic Search

Background: Mutations and deletions of the homeobox transcription factor gene SHOX are known to cause short stature. The authors have analysed SHOX enhancer regions in a large cohort of short stature patients to study the importance of regulatory regions in developmentally relevant genes like SHOX. Methods: The authors tested for the presence of copy number variations in the pseudoautosomal region

J Chen; G Wildhardt; Z Zhong; B Weiss; D Steinberger; J Decker; W F Blum; G Rappold; Eli Lilly; Neuenheimer Feld

2010-01-01

41

Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals.  

PubMed

In 1993, Nicolaides and Baraitser reported a new condition consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. We report here two unrelated patients with identical features, thus confirming the status of this rare disorder of unknown aetiology. PMID:14564210

Morin, Gilles; Villemain, Lucie; Baumann, Clarisse; Mathieu, Michèle; Blanc, Nathalie; Verloes, Alain

2003-10-01

42

Alopecia congenita universalis, microcephaly, cutis marmorata, short stature and XY gonadal dysgenesis: variable expression of El-Shanti syndrome  

Microsoft Academic Search

Alopecia congenita, laryngomalacia, and XY gonadal dysgenesis has been reported recently as a new syndrome in two unrelated Arab families from Jordan. We report a 4-year-old girl of first cousin Arab parents who had alopecia, microcephaly, cutis marmorata, short stature and borderline cognitive development. Karyotype analysis revealed a male constitution (46,XY) with no deletion of STSor SRY. She showed entirely

Ahmad S. Teebi; Lucie Dupuis; Diane Wherrett; Anthony Khoury; Kenneth J. Zucker

2004-01-01

43

Efficacy and safety of Valtropin in the treatment of short stature in girls with Turner's syndrome.  

PubMed

Valtropin (somatropin, BioPartners and LG Life Sciences [LGLS]) is a recombinant human growth hormone (GH) preparation produced using a yeast expression system. An open single-arm phase III study was conducted to evaluate efficacy and safety at a dose of 0.16 IU/kg/day (0.053 mg/kg/day) s.c. for 12 months in the treatment of short stature in girls (n = 30, aged 2-9 years) with Turner's syndrome. The primary efficacy variable was height velocity (HV) at 12 months. Secondary efficacy variables included serum GH dependent growth factors. HV increased from 3.8 +/- 1.8 cm/yr at baseline to 9.7 +/- 1.6 cm/yr (mean +/- SD) after 12 months of treatment. Marked treatment effects were also observed on other growth parameters, serum insulin-like growth factor-I (IGF-I) and insulin-like growth factor binding protein-3 (IGFBP-3). Treatment was well tolerated with no significant adverse events. It is concluded that Valtropin is as safe and effective as other human GH preparations for the treatment of growth failure in girls with Turner's syndrome. PMID:15526722

Peterkova, V; Savoy, C; Bezlepkina, O; Ivanov, A; Orlova, E; Nagaeva, E; Kim, J; Lee, Y P; Saenger, P H; Stanhope, R

2004-10-01

44

Correlation between serum IGF-1 and blood lead level in short stature children and adolescent with growth hormone deficiency  

PubMed Central

This study aimed to investigate correlation between serum insulin-like growth factor-1 (IGF-1) and blood lead level in short stature children with growth hormone deficiency (GHD), and IGF-1 signal molecules were investigated in lead exposed rats. Our findings may provide evidence for clarifying pathogenesis of lead induced short stature in children. Methods: 880 short stature children were recruited from clinics and divided into GHD group and idiopathic short stature (ISS) group according to the GH peak in growth hormone stimulation test. The height, body weight, serum IGF-1 level and blood lead level were determined. A rat model of lead poisoning was used to establish and western blot assay was employed to detect the phosphorylation of signaling molecules (MAPK and PI3K/Akt) related to IGF-1 signaling pathway. Results: In GHD group, the height, body weight and serum IGF-1 level were significantly lower, but the blood lead level was significantly higher than those in ISS group (P<0.05). Western blot assay confirmed that the protein expression of phosphorylated ERK1/2, JNK, p38, Akt473 and Akt308 increased significantly (P<0.01) in lead exposure rats. Conclusion: Our study suggesting that reduction in IGF-1 in children with GHD is associated with blood lead level. Lead exposure may induce expression of phosphorylated MAPK and Akt signaling molecules. The activation of these molecules may influence binding of IGF-1 and tyrosine kinase receptor IGFIR to regulate cell growth via the MAPK and Akt signaling pathways, which then interfere with growth-promoting effect of IGF-1 in short children.

Xu, Yan; Liu, Ming-Chao; Wang, Pei; Xu, Bei; Liu, Xin-Qin; Zhang, Zhi-Ping; Ren, Li-Fen; Qin, Qing; Ma, Yue-Yun; Luo, Wen-Jing; Hao, Xiao-Ke

2014-01-01

45

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

PubMed Central

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

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

2009-01-01

46

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

PubMed Central

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

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

2013-01-01

47

Long-term results of growth hormone treatment in France in children of short stature: population, register based study.  

PubMed Central

OBJECTIVES: To describe the growth of children treated with growth hormone and to evaluate the prognostic factors for height at the end of treatment. DESIGN: Register based cohort study. SETTING: French national register of all children treated with growth hormone. SUBJECTS: 3233 short stature children (3165 of whom were deficient in growth hormone) who were treated with growth hormone (excluding children with Turner's syndrome) and whose treatment started between 1973 and 1989, last data being recorded in December 1993. MAIN OUTCOME MEASURES: Annual changes in height, and height at the end of treatment. RESULTS: Mean height SD score at the end of treatment, after a mean of 4.3 years, was -2, corresponding to gain in mean height SD score of 1 and to a height SD score of 1.1 below target height. In all, 923 children prematurely stopped taking growth hormone treatment, mainly because of insufficient response (insufficient growth) or tiredness. Variables that predicted height at the end of treatment were age, target height, aetiology of short stature, use of puberty inhibitors, and type of growth hormone. CONCLUSIONS: The outcome of children of short stature with growth hormone deficiency who were treated with growth hormone has been less favourable than initially assumed. Growth hormone treatment has not restored normal growth to these children. The highly demanding nature and high costs of this treatment require an optimised prescription, and this remains to be determined.

Coste, J.; Letrait, M.; Carel, J. C.; Tresca, J. P.; Chatelain, P.; Rochiccioli, P.; Chaussain, J. L.; Job, J. C.

1997-01-01

48

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

PubMed

Early linear growth in Guatemala has historically been compromised, resulting in adults of short stature. We hypothesized that the rate of short stature among mothers in the Western Highlands would have tracked from their own childhood when younger than 5 years, and that maternal weight declines progressively from delivery through lactation. Maternal weight and height were collected in 542 lactating mothers of infant and toddlers, ranging in age from 15 to 48 years, with subsequent classification of mothers for short stature (relative to the 1977 World Health Organization/National Center for Health Statistics growth curves) and for underweight (body mass index [BMI], <18.5 kg/m²), overweight (BMI, 25-30 kg/m²), or obesity (BMI, ?30 kg/m²). The mean stature for the sample of adult women was 149.3 ± 5.9 cm, with a median of 149.0 cm. Women classified of Mayan descent were significantly (P < .001) shorter (147.0 ± 5.1 cm) than others (150.5 ± 6.0 cm). In terms of height percentiles for the age-specific female reference, 410 (76%) of mothers were below the fifth percentile and only 8 (1.5%) reached the median. Respective partition for underweight, normal weight, overweight, and obesity was as follows: 5%, 50%, 36%, and 9%. Variation in BMI with respect to the age of the offspring as the indicator of the duration of lactation was not significant, by analysis of variance or correlation analysis. Insofar as short stature is a risk factor for a series of adverse health consequences, including obesity and obstructed labor at childbirth, among others, it is time to direct public health attention toward resolving the causal factors for short stature in Guatemala. PMID:23399658

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

2013-02-01

49

A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25–q26  

Microsoft Academic Search

X-linked mental retardation (XLMR) is a heterogeneous disorder with both syndromic and non-syndromic forms. Here we describe the clinical and molecular characterisation of a family with a syndromic form of XLMR with hypogonadism and short stature. We investigated a family in which four male members in two generations presented with hypergonadotrophic hypogonadism associated with development of small and abnormal testes.

Deirdre D. Cilliers; Rahat Parveen; Peter Clayton; Stephen A. Cairns; Sheila Clarke; Stephen M. Shalet; Graeme C. M. Black; William G. Newman; Jill Clayton-Smith

2007-01-01

50

A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25  

Microsoft Academic Search

METHODSA large family is described in which mental retardation segregates as an X linked trait. Six affected males in three generations were studied by linkage and clinical examination.RESULTSCharacteristic clinical features include short stature, prominent lower lip, small testes, muscle wasting of the lower legs, kyphosis, joint hyperextensibility, abnormal gait, tremor, and decreased fine motor coordination. Affected subjects also had impaired

David A Cabezas; Rachel Slaugh; Fatima Abidi; J Fernando Arena; Roger E Stevenson; Charles E Schwartz; Herbert A Lubs

2000-01-01

51

A comparison of referral patterns to the pediatric endocrine clinic before and after FDA approval of growth hormone for idiopathic short stature  

PubMed Central

Background Short stature is a common reason for referral to the pediatric endocrine clinic. In 2003, the US Food and Drug Administration (FDA) approved the use of growth hormone (GH) for the treatment of children with idiopathic short stature (ISS). Objective To explore if this indication changed referrals for short stature (SS). Design/Methods A retrospective chart review of children seen for SS in the pediatric endocrine clinic between July 1998 and June 1999 (interval one, n=138) and July 2005–June 2006 (interval two, n=268) was performed. Variables collected included age, gender, height (h), and parental heights. Results Average height standard deviation score (HT-SDS) was ?2.11±0.9 in interval one and ?2.14±0.83 in interval two (p=ns). No differences in age, gender distribution, relationship between child and parental heights, the proportion of subjects started on GH for ISS or in the HT-SDS of those treated between the two intervals were identified. Nearly half of all children referred in each interval did not meet the technical criteria for short stature. Conclusions No differences in referral patterns for SS in our area following FDA approval of GH for ISS were identified. Although referrals appear unchanged, additional investigation of GH prescribing patterns before and after this new indication is needed. Continued education of primary care physicians and the general public regarding the definition of SS and the eligibility for GH therapy should be pursued.

Goldyn, Andrea K.; Nabhan, Zeina M.; Eugster, Erica A.

2014-01-01

52

Effect of growth hormone therapy and puberty on bone and body composition in children with idiopathic short stature and growth hormone deficiency  

Microsoft Academic Search

The state of bone health and the effect of growth hormone (GH) therapy on bone and body composition in children with idiopathic short stature (ISS) are largely unknown. A direct role of GH deficiency (GHD) on bone density is controversial. Using dual-energy X-ray absorptiometry, this study measured total body bone mineral content (TB BMC), body composition, and volumetric bone mineral

Wolfgang Högler; Julie Briody; Bin Moore; Pei Wen Lu; Christopher T. Cowell

2005-01-01

53

Hypotonia  

MedlinePLUS

... muscles: Infant botulism Myasthenia gravis Inborn errors of metabolism (rare genetic disorders in which the body cannot properly turn food into energy) Infections Other genetic or chromosomal disorders ...

54

Three-dimensional magnetic resonance volumetry of the pituitary gland is effective in detecting short stature in children  

PubMed Central

The aim of the present study was to obtain standard reference values for the pituitary gland volumes of healthy children and to analyze the potential diagnostic values of pituitary gland volumetry for growth hormone deficiency (GHD) and idiopathic short stature (ISS). The volume of the pituitary gland was measured using a thin-section three-dimensional (3D) magnetic resonance imaging (MRI) sequence of magnetization-prepared rapid gradient echo imaging with a section thickness of 1 mm. A group of 75 healthy children aged between 1 and 19 years were recruited to obtain normal volumetry values of the pituitary gland. These individuals demonstrated no evidence of abnormalities to the central nervous or endocrine systems prior to the study. An additional group of 55 children with GHD (n=32) or ISS (n=23) aged between 0 and 14 years were included in the measurement of pituitary gland volume and height. The Student’s t-test was used to evaluate the repetition test, while Pearson’s correlation coefficient and regression analyses were performed to examine the correlations between the volume and height of the pituitary glands. Pituitary gland volume and height demonstrated an increasing trend with age in the healthy children. In addition, the pituitary gland volume exhibited a growth spurt in the early teenage years (10–14 years-old), which was more prominent in females. The growth spurt was not observed for pituitary gland height. When compared with the healthy children, 65.6% of the children with GHD and 34.8% of the children with ISS had smaller pituitary gland volumes. Similarly, 37.5% of the children with GHD and 26.1% of the children with ISS had a smaller pituitary gland height compared with the healthy children. The pituitary gland volume performed significantly better compared with height with regard to the detection rate. Therefore, the results indicated that 3D MRI volumetry was useful for understanding the developmental characteristics of the pituitary gland in healthy children, and that the reference data provided by 3D MRI were effective in the diagnosis of short stature following associations with neuroimaging and clinical functional abnormalities of the pituitary gland.

HAN, XUE; XIU, JIANJUN; HUANG, ZHAOQIN; ZHANG, JIE; ZHANG, ZHONGHE; DONG, YIN; YUAN, XIANSHUN; LIU, QINGWEI

2014-01-01

55

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

PubMed Central

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

2014-01-01

56

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

PubMed

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

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

2013-10-01

57

Short Stature Associated with High Circulating Insulin-Like Growth Factor (IGF)Binding Protein1 and Low Circulating IGF-II: Effect of Growth Hormone Therapy  

Microsoft Academic Search

We report a case of short stature associated with high circulating levels of insulin-like growth factor (IGF)-binding protein-1 (IGFBP-10 and low levels of IGF-II responsive to pharmacological treatment with GH. Our patient suffered severe growth failure from birth (2.06 SD below the mean for normal full-term boys, and 5.2 and 7.3 SD below the mean at 5 and 10 months).

A. Barreca; M. BOZZOLA; A. CESARONE; P. H. STEENBERGH; P. E. HOLTHUIZEN; F. SEVERI; G. GIORDANO; F. MINUTO

1998-01-01

58

Assessing the quality of life of health-referred children and adolescents with short stature: development and psychometric testing of the QoLISSY instrument  

PubMed Central

Background When evaluating the outcomes of treatment in paediatric endocrinology, the health-related quality of life (HrQoL) of the child is to be taken into consideration. Since few self–reported HrQoL instruments exist for children with diagnosed short stature (dSS), the objective of this study was to develop and psychometrically test a targeted HrQoL instrument for use in multinational clinical research. Methods The target population were short stature (height < ?2 SDS) children and adolescents (age 8–12 and 13–18 years) with a diagnosis of growth hormone deficiency (GHD) or idiopathic short stature (ISS), differing in growth hormone treatment status. Focus group discussions for concept and item generation, piloting of the questionnaire with cognitive debriefing, and instrument field testing with a retest were conducted simultaneously in five countries. After qualitative and preliminary quantitative analyses, psychometric testing of field test data in terms of reliability and validity including confirmatory factor analyses (CFA) was performed. Results Following item generation from focus group discussions, 124 items were included in a pilot test with a cognitive debriefing exercise providing preliminary feedback on item and domain operating characteristics. A field test with 268 participants showed high internal consistency reliabilities (alpha 0.82 – 0.95), good correlations with generic measures (up to r = .58), significant known group differences (e.g. in height: F = 32, df 244, p < 0.001) and an acceptable CFA model fit suggesting construct validity of the three-domain core structure with 22 items, supplemented by three mediator domains with 28 items. Conclusions The QoLISSY questionnaire is a promising step forward in assessing the impact of dSS on HrQoL. It is based on items generated from the subjective experience of short stature children referred for endocrine investigation, is validated for use in five languages and it is easy to administer in clinical and research settings.

2013-01-01

59

Short stature and food habits as determining factors for the low productivity of sugarcane labourers in the State of Alagoas, north-eastern Brazil.  

PubMed

Undernutrition, especially in the prenatal period and/or until 5 years of age, can cause stunting. Adults with short stature resultant from this process show a series of functional deficits, amongst which is a reduced capacity to do physical work. The aim of this investigation was to evaluate the dietary pattern, nutritional status and stature of sugarcane cutters, and to determine possible associations with worker productivity. Sixty-two male sugarcane cutters (18-50 y) were selected randomly from a population of 600 workers from a plantation in Alagoas (Brazil), and classified as underweight, normal weight or overweight according to BMI (BMI = 21.5, 21.5 to = 25 and >25 kg/m2, respectively). Body fat composition (%) was estimated by electrical bioimpedance and dietary intake by the direct weighing of food consumed. Whilst the average productivity was 8.13 ton/day, labourers with normal BMI values were more productive (9.12 ton/dia) and ingested significantly (p<0.05) greater amounts of energy (16506.4 kJ/dia) than their underweight (7.48 +/- 1.5; 12380.7 +/- 4184.1) or overweight (9.12 +/- 1.5; 16506.4 +/- 6360.0) counterparts, respectively. There were associations (p<0.05) between productivity, stature, energy intake and age. The tallest individuals (= 170 cm) had higher productivity and tended to have a higher energy intake, whilst those with the shortest stature (= 160 cm), had a significantly lower productivity, however ingested a similar quantity of energy, and tended to have a large accumulation of body fat. Multiple regression analysis identified stature as the parameter most associated with productivity, independent of age and body fat percentage. Productivity of the tallest individuals was 1.87 ton/day higher than that of the shortest individuals. The results emphasise the importance of good nutritional status throughout life for full development of working productivity. PMID:18589570

Florêncio, Telma T; Ferreira, Haroldo S; Cavalcante, Jairo C; Assunção, Monica L de; Sawaya, Ana Lydia

2008-03-01

60

Comparative proteomic analysis in children with idiopathic short stature (ISS) before and after short-term recombinant human growth hormone (rhGH) therapy.  

PubMed

This study was undertaken to identify growth hormone (GH) responsive proteins and protein expression patterns by short-term recombinant human growth hormone (rhGH) therapy in patients with idiopathic short stature (ISS) using proteomic analysis. Seventeen children (14 males and three females) with ISS were included. They were treated with rhGH at a dose of 0.31 ± 0.078 mg/kg/week for 3 months. Immunodepletion of six highly-abundant serum proteins followed by 2D DIGE analysis, and subsequent MALDI TOF MS, were employed to generate a panel of proteins differentially expressed after short-term rhGH therapy and verify the differences in serum levels of specific proteins by rhGH therapy. Fourteen spots were differentially expressed after rhGH treatment. Among them, apo E and apo L-1 expression were consistently enhanced, whereas serum amyloid A was reduced after rhGH therapy. The differential expressions of these proteins were subsequently verified by Western blot analysis using sera of the before and after rhGH treatment. This study suggests that rhGH therapy influences lipoprotein metabolism and enhances apo L-1 protein expression in ISS patients. PMID:23436750

Heo, Sun Hee; Choi, Jin-Ho; Kim, Yoo-Mi; Jung, Chang-Woo; Lee, Jin; Jin, Hye Young; Kim, Gu-Hwan; Lee, Beom Hee; Shin, Choong Ho; Yoo, Han-Wook

2013-04-01

61

A randomized controlled trial of three years growth hormone and gonadotropin-releasing hormone agonist treatment in children with idiopathic short stature and intrauterine growth retardation  

Microsoft Academic Search

We assessed the effectiveness and safety of 3 yr combined GH and GnRH\\u000a agonist (GnRHa) treatment in a randomized controlled study in children\\u000a with idiopathic short stature (ISS) or intrauterine growth retardation\\u000a (IUGR). Gonadal suppression, GH reserve, and adrenal development were\\u000a assessed by hormone measurements in both treated children and controls\\u000a during the study period. Thirty-six short children, 24 girls

G. A. Kamp; D. Mul; J. J. J. WAELKENS; M. Jansen; H. A. Delemarre-van de Waal; L. Verhoeven-Wind; M. Frölich; W. Oostdijk; J. M. Wit

2001-01-01

62

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

PubMed Central

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

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

2014-01-01

63

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

PubMed Central

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

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

2011-01-01

64

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

PubMed

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

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

2014-06-01

65

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

SciTech Connect

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

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

1992-12-01

66

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

Microsoft Academic Search

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

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

2005-01-01

67

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

PubMed Central

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

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

2013-01-01

68

X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family.  

PubMed

X-linked mental retardation (XLMR) is a heterogeneous disorder that can be classified as either non-specific (MRX), when mental retardation is the only feature, or as syndromic mental retardation (MRXS). Genetic defects underlying XLMR are being identified at a rapid pace, often starting from X-chromosomal aberrations and XLMR families with a well-defined linkage interval. Here, we present a new family with a syndromic form of XLMR, including mild mental retardation, short stature, microcephaly and hypogonadism. Two-point linkage analysis with 24 polymorphic markers spanning the entire X chromosome was carried out. We could assign the causative gene to a 6 cM interval in Xp22.1-p21.3, with a maximum LOD score of 2.61 for markers DXS989 and DXS1061 at theta = 0.00. No mutations were found in the presented family for two known MRX genes mapping to this interval, ARX and IL1RAPL-1. These data indicate that the interval Xp22.1-p21.3 contains at least one additional MRXS gene. PMID:16053905

Van Esch, Hilde; Zanni, Ginevra; Holvoet, Maureen; Borghgraef, Martine; Chelly, Jamel; Fryns, Jean-Pierre; Devriendt, Koenraad

2005-01-01

69

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

PubMed

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

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

2014-01-01

70

Effect of growth hormone treatment on testicular function, puberty, and adrenarche in boys with non-growth hormone–deficient short stature: A randomized, double-blind, placebo-controlled trial  

Microsoft Academic Search

Objective: To evaluate the effect of growth hormone (GH) therapy on pubertal onset, pubertal pace, adult testicular function, and adrenarche in boys with non-GH-deficient short stature. Study design: Randomized, double-blind, placebo-controlled trial. GH (0.074 mg\\/kg, subcutaneously, 3 times per week) or placebo treatment was initiated in prepubertal or early pubertal boys and continued until near final height was reached (n

Ellen Werber Leschek; James F. Troendle; Jack A. Yanovski; Susan R. Rose; Donna B. Bernstein; Gordon B. Cutler; Jeffrey Baron

2001-01-01

71

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

SciTech Connect

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.

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

1984-02-01

72

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 ...

73

Two novel deletions in hypotonia-cystinuria syndrome.  

PubMed

Hypotonia-cystinuria syndrome (HCS) is an autosomal recessive disorder caused by combined deletions of SLC3A1 and PREPL. Clinical features include cystinuria, neonatal hypotonia with spontaneous improvement, poor feeding in neonates, hyperphagia in childhood, growth hormone deficiency, and variable cognitive problems. Only 14 families with 6 different deletions have been reported. Patients are often initially misdiagnosed, while correct diagnosis enables therapeutic interventions. We report two novel deletions, further characterizing the clinical and molecular genetics spectrum of HCS. PMID:22796000

Régal, Luc; Aydin, Halil Ibrahim; Dieltjens, Anne-Marie; Van Esch, Hilde; Francois, Inge; Okur, Ilyas; Zeybek, Cengiz; Meulemans, Sandra; Van Mol, Christine; Van Bruwaene, Lore; Then, Siao-Hann; Jaeken, Jaak; Creemers, John

2012-11-01

74

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

SciTech Connect

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

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

1994-07-15

75

Improvement in Adult Height after Growth Hormone Treatment in Adolescents with Short Stature Born Small for Gestational Age: Results of a Randomized Controlled Study  

Microsoft Academic Search

The efficacy of GH for increasing adult height (AH) in short adolescents born small for gestational age (SGA) is unclear, due to the lack of long-term controlled trials. A total of 168 short children born SGA (age, 10.5 yr for girls and 12.5 yr for boys) were randomly assigned to receive either 0.067 mg\\/kgd GH until attainment of AH or

JEAN-CLAUDE CAREL; PIERRE CHATELAIN; PIERRE ROCHICCIOLI; JEAN-LOUIS CHAUSSAIN

76

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

PubMed Central

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

2013-01-01

77

Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy-Walker malformation.  

PubMed

Microdeletions of Xp22.3 are associated with contiguous gene syndromes, the extent and nature of which depend on the genes encompassed by the deletion. Common symptoms include ichthyosis, mental retardation and hypogonadism. We report on a boy with short stature, ichthyosis, severe mental retardation, cortical heterotopias and Dandy-Walker malformation. The latter two abnormalities have so far not been reported in terminal Xp deletions. MLPA showed deletion of SHOX and subsequent analysis using FISH and SNP-arrays revealed that the patient had an 8.41 Mb distal deletion of chromosome region Xp22.31 --> Xpter. This interval contains several genes whose deletion can partly explain our patient's phenotype. His cortical heterotopias and DWM suggest that a gene involved in brain development may be in the deleted interval, but we found no immediately obvious candidates. Interestingly, further analysis of the family revealed that the patient had inherited his deletion from his mother, who has a mos 46,X,del(X)(p22)/45,X/46, XX karyotype. PMID:18925676

van Steensel, M A M; Vreeburg, M; Engelen, J; Ghesquiere, S; Stegmann, A P A; Herbergs, J; van Lent, J; Smeets, B; Vles, J H

2008-11-15

78

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

PubMed Central

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

DeWitte, Sharon N.; Hughes-Morey, Gail

2013-01-01

79

Diagnostic Approach in Children with Short Stature  

Microsoft Academic Search

For early detection of pathological causes of growth failure proper referral criteria are needed, as well as a thorough clinical, radiological and laboratory assessment. In this minireview we first discuss the two consensus-based and one evidence-based guidelines for referral that have been published. The evidence-based guidelines result in a sensitivity of approximately 80% at a false-positive rate of 2%. Then,

Wilma Oostdijk; Floor K. Grote; Sabine M. P. F. de Muinck Keizer-Schrama; Jan M. Wit

2009-01-01

80

Hypotonia, jaundice, and Chiari malformations: relationships to executive functions.  

PubMed

This article postulates that movement and action control are the underpinning of executive functioning. We selectively examine brain regions that have traditionally been almost exclusively understood as critical to the control and expression of movement-namely, the basal ganglia and the cerebellum. We first describe the relationship between movement and cognition. This is followed by a review of common developmental disorders that are known to exhibit abnormal executive functions and movement anomalies. Against that background, we examine hypotonia, neonatal jaundice, and Chiari I malformation, and we demonstrate why these are "at-risk" factors for neurodevelopmental disorders that can feature both motor control and executive function abnormalities. Our goal is to prepare the clinical neuropsychologist for gathering information about these features of a child's birth and developmental histories, while using this as a framework for interpreting test results and applying test data in a useful, practical way to guide descriptive diagnosis and treatment. PMID:23848246

Koziol, Leonard F; Barker, Lauren A

2013-01-01

81

Stature is an essential predictor of muscle strength in children  

PubMed Central

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

2012-01-01

82

Juvenile Stature Estimation: A Chilean Perspective  

Microsoft Academic Search

\\u000a Limited analysis has been conducted for estimating stature derived from the long bone lengths of juvenile skeletons. Juvenile\\u000a stature estimation can be particularly useful in the forensic setting, which may have applications for use as a proxy for\\u000a nutritional health. Stature equations developed by Ruff (Am J Phys Anthropol 133:698–716, 2007) and Smith (J Forensic Sci\\u000a 52:538–546, 2007) derived from

Rebecca Sutphin; Ann H. Ross

83

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

PubMed

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

Price, Gregory N

2013-12-01

84

Stature and gender estimation using foot measurements  

Microsoft Academic Search

In forensic investigation difficulties are being experienced in the stature and gender estimation of bodies dismembered in mass destruction. So as to eliminate these difficulties, new methods are being developed. The aim of this study is to develop formulae for estimation of the stature and gender through foot measurements when necessary. For this purpose, the length, width, malleol height, navicular

Gulsah Zeybek; Ipek Ergur; Zehra Demiroglu

2008-01-01

85

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

SciTech Connect

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

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

1996-12-30

86

Prediction of stature in the Italian elderly.  

PubMed

Adequate quantification of weight and stature is essential in order to determine levels of nutritional support and to monitor the effects of nutritional intervention. Traditional anthropometric techniques are difficult to apply in elderly or handicapped patients chair or bed-bound. The purpose of the present study is to elaborate regression equations for the estimation of stature in the italian elderly population from other anthropometric measures that can be more easily determined. We have found a single model valid for both sexes (in which the value of the variable "sex" equals 0 if woman and 1 if man) to predict stature in italian elderly: Stature = 94.87 + 1.58 knee-height - 0.23 age + 4.8 sex. Cross validation on a control sample of 30 males and 54 females yielded pure errors of 3.1 cm for men and 2.74 cm for women. PMID:10842417

Donini, L M; de Felice, M R; de Bernardini, L; Ferrari, G; Rosano, A; de Medici, M; Cannella, C

2000-01-01

87

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

ERIC Educational Resources Information Center

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

Cohen, M. Michael, Jr.; And Others

1973-01-01

88

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

ERIC Educational Resources Information Center

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

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

2013-01-01

89

Changes in stature, weight, and nutritional status with tourism-based economic development in the Yucatan.  

PubMed

Over the past 40 years, tourism-based economic development has transformed social and economic conditions in the Yucatan Peninsula, Mexico. We address how these changes have influenced anthropometric indicators of growth and nutritional status in Yalcoba, a Mayan farming community involved in the circular migration of labor in the tourist economy. Data are presented on stature and weight for children measured in 1938 in the Yucatan Peninsula and from 1987 to 1998 in the Mayan community of Yalcoba. In addition, stature, weight and BMI are presented for adults in Yalcoba based on clinic records. Childhood stature varied little between 1938 and 1987. Between 1987 and 1998 average male child statures increased by 2.6cm and female child statures increased by 2.7cm. Yet, 65% of children were short for their ages. Between 1987 and 1998, average child weight increased by 1.8kg. Child BMIs were similar to US reference values and 13% were considered to be above average for weight. Forty percent of adult males and 64% of females were overweight or obese. The anthropometric data from Yalcoba suggest a pattern of stunted children growing into overweight adults. This pattern is found elsewhere in the Yucatan and in much of the developing world where populations have experienced a nutrition transition toward western diets and reduced physical activity levels. PMID:20579944

Leatherman, Thomas L; Goodman, Alan H; Stillman, Tobias

2010-07-01

90

Apneic crises: a clue for MECP2 testing in severe neonatal hypotonia-respiratory failure.  

PubMed

Males with methyl-CpG-binding protein 2 (MECP2) mutations may present with neonatal encephalopathy. We report on an infant with a MECP2 mutation who exhibited complex constellation of symptoms, including severe hypotonia, respiratory failure, and apneic episodes. In the neonatal period these symptoms are common to other disorders, including Ondine syndrome. Our observation confirms that the triad of severe hypotonia, apneic episodes, and respiratory failure may be caused by MECP2 mutations. Neonatologist and neuropediatricians must be alert to the presence of these symptoms to exclude this rare but severe disorder. Clinical suspicion and molecular confirmation of MECP2 mutation is of great importance for defining the diagnosis of this rare affection. PMID:22497713

Falsaperla, Raffaele; Pavone, Lorenzo; Fichera, Marco; Striano, Pasquale; Pavone, Piero

2012-11-01

91

First U.S. case of adenylosuccinate lyase deficiency with severe hypotonia  

Microsoft Academic Search

Adenylosuccinate lyase (ASL) deficiency is a defect in purine de novo synthesis pathway. The disease has variable clinical presentation involving psychomotor retardation, seizures, hypotonia, and autism. The presence of succinyladenosine and succinylamino-imidazole carboxamide riboside (SAICA riboside) in body fluids characterizes the biochemical phenotype. All cases of ASL deficiency described to date have been diagnosed in Europe. Using a high-resolution thin-layer

Dalibor Valik; Philip T Miner; James D Jones

1997-01-01

92

Current Bibliographies in Medicine: Growth Hormones and Short Stature.  

National Technical Information Service (NTIS)

Normal growth consists of an intricate series of changes manifested in four major growth periods - prenatal, infancy, childhood, and adolescence. One of the most reliable indices of growth or lack of growth in children is height. Based on common pediatric...

P. S. Tillman

1989-01-01

93

Evolutionary trends of stature in Upper Paleolithic and Mesolithic Europe  

Microsoft Academic Search

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

Vincenzo Formicola; Monica Giannecchini

1999-01-01

94

Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis.  

PubMed

Twelve patients with different features of Turner syndrome, and with Xp and Yp rearrangements involving the pseudoautosomal region (PAR1) are described. In all patients, FISH analysis showed loss of one copy of the Short Stature Homeobox (SHOX)-containing gene. Ten patients had short stature and one disproportionate (mesomelic) normal stature, while the last one had normal stature. Skeletal abnormalities, including shortened ulna, were detected in nine subjects, and in six of them Madelung deformity was observed. These clinical data indicated a genotype phenotype correlation between haploinsufficiency of SHOX, and short stature and skeletal abnormalities. PMID:10905666

Palka, G; Stuppia, L; Guanciali Franchi, P; Chiarelli, F; Fischetto, R; Borrelli, P; Giannotti, A; Fioretti, G; Rinaldi, M M; Mingarelli, R; Rappold, G A; Calabrese, G

2000-06-01

95

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

PubMed

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

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

96

Forensic anthropology casework-essential methodological considerations in stature estimation.  

PubMed

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

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

2012-03-01

97

Stature recovery after sitting on land and in water.  

PubMed

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

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

2009-12-01

98

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

PubMed Central

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

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

2013-01-01

99

Stature estimation from craniofacial anthropometry in Bangladeshi Garo adult females.  

PubMed

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

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

2012-07-01

100

Repeatability of stature measurements in individuals with and without chronic low-back pain  

Microsoft Academic Search

Measurements of reduction in stature have been used to compare spinal loading in chronic low-back pain (CLBP) and asymptomatic populations. Whether there are any differences in the repeatability of stature measurements, between those with and without CLBP, is not known. This investigation aimed to determine the repeatability of stature measurements in those with (n = 12) and without (n = 12) CLBP, and to

E. L. Healey; N. E. Fowler; A. M. Burden; I. M. McEwan

2005-01-01

101

Evolutionary trends of stature in upper Paleolithic and Mesolithic Europe.  

PubMed

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

Formicola, V; Giannecchini, M

1999-03-01

102

Estimation of stature using fragmentary femora in indigenous South Africans  

Microsoft Academic Search

Intact long bones of the upper and lower extremities have been used in the derivation of regression equations for the estimation\\u000a of stature in different population groups. These bones are sometimes presented to forensic anthropologists in different states\\u000a of fragmentation thereby making the derived equations unusable. This has necessitated the need to assess the usefulness of\\u000a measurements of fragments of

Mubarak Ariyo Bidmos

2008-01-01

103

Stature-for-Age and Weight-for-Age Percentiles: Boys, 2 to 20 Years  

MedlinePLUS

... 170 175 180 kg 10 15 20 25 30 35 105 45 50 55 60 65 70 75 80 85 90 95 100 12 13 14 15 16 17 18 19 20 AGE (YEARS) AGE (YEARS) 40 95 90 75 50 25 10 5 95 90 75 50 25 10 5 cm 11 3 4 5 6 7 8 9 10 145 Date Mother’s Stature Father’s Stature Age Weight Stature BMI* ...

104

[Extra-scleral balloon catheterization. Report 3. New ways of its use--prevention of hypotonia and intraocular hemorrhages in vitreo- retinal surgery].  

PubMed

Hypotonia and ex vacuo hemorrhages are the most grave complications of vitreoretinal surgery; the known methods of their prevention are altogether inadequate. The authors have developed extra-scleral ballooning (ESB) methods that improve the efficacy of surgery and reduce the rate and severity of complications in subretinal fluid draining during surgery for detachment of the retina and in arresting intraocular hemorrhages during closed vitrectomy. ESB application helped elevate intraocular pressure in the patients with drastic hypotonia, permitting a reliable and easy-to-perform monitoring of intraocular pressure over the course of surgery. This was conducive to complete evacuation of subretinal fluid, thus preventing the development of hypotonia and its complications, as well as to a rapid arrest of intraocular hemorrhage due to rapid elevation of intraocular pressure up to the values essential for the bleeding vessel collapse. Surgical methods are described and their results analyzed in 65 cases. The developed ESB methods for the prevention of hypotonia and intraocular hemorrhages in vitreoretinal surgery are effective, low traumatic, and may be recommended as alternative ones. PMID:1755163

Movshovich, A I; Saksonova, E O; Il'nitski?, V V

1991-01-01

105

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

PubMed Central

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

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

2011-01-01

106

Human size evolution: no evolutionary allometric relationship between male and female stature  

Microsoft Academic Search

In many animal groups, sexual size dimorphism tends to be more pronounced in species with large body size. Similarly, in a previous cross-cultural analysis, male and female stature in humans were shown to be positively allometrically related, indicating a similar relationship where populations with larger stature were more dimorphic. In this study, we re-examine the hypothesis of an allometric relationship

Anders Gustafsson; Patrik Lindenfors

2004-01-01

107

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

PubMed

Deficiencies of different proteins involved in copper metabolism have been reported to cause human diseases. Well-known syndromes, for example, are Menkes and Wilson diseases. Here we report a patient presenting with congenital cataract, severe muscular hypotonia, developmental delay, sensorineural hearing loss and cytochrome-c oxidase deficiency with repeatedly low copper and ceruloplasmin levels. These findings were suggestive of a copper metabolism disorder. In support of this, the patient's fibroblasts showed an increased copper uptake with normal retention. Detailed follow-up examinations were performed. Immunoblotting for several proteins including ATP7A (MNK or Menkes protein), ATP7B (Wilson protein) and SOD1 showed normal results, implying a copper metabolism defect other than Wilson or Menkes disease. Sequence analysis of ATOX1 and genes coding for proteins that are known to play a role in the mitochondrial copper metabolism (COI-III, SCO1, SCO2, COX11, COX17, COX19) revealed no mutations. Additional disease genes that have been associated with cytochrome-c oxidase deficiency were negative for mutations as well. As beneficial effects of copper histidinate supplementation have been reported in selected disorders of copper metabolism presenting with low serum copper and ceruloplasmin levels, we initiated a copper histidinate supplementation. Remarkable improvement of clinical symptoms was observed, with complete restoration of cytochrome-c oxidase activity in skeletal muscle. PMID:15902551

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

2005-01-01

108

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

PubMed

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

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

2014-05-01

109

Higher Education and the Public Trust: Improving Stature in Colleges and Universities. ASHE-ERIC Higher Education Report No. 6.  

ERIC Educational Resources Information Center

Institutional stature, its development and determination, and strategies for its enhancement in colleges and universities are discussed. Focus is on the fundamental dimensions of stature, how it is affected by the external environment, and what colleges can do to improve it. Chapters are as follow: "Definition and Dimensions of Stature" (higher…

Alfred, Richard L.; Weissman, Julie

110

Mitosis, stature and evolution of plant mating systems: low-Phi and high-Phi plants.  

PubMed

There is a long-recognized association in plants between small stature and selfing, and large stature and outcrossing. Inbreeding depression is central to several hypotheses for this association, but differences in the evolutionary dynamics of inbreeding depression associated with differences in stature are rarely considered. Here, we propose and test the Phi model of plant mating system evolution, which assumes that the per-generation mutation rate of a plant is a function of the number of mitoses (Phi) that occur from zygote to gamete, and predicts fundamental differences between low-Phi (small-statured) and high-Phi (large-statured) plants in the outcomes of the joint evolution of outcrossing rate and inbreeding depression. Using a large dataset of published population genetic studies of angiosperms and conifers, we compute fitted values of inbreeding depression and deleterious mutation rates for small- and large-statured plants. Consistent with our Phi model, we find that populations of small-statured plants exhibit a range of mating systems, significantly lower mutation rates, and intermediate inbreeding depression, while large-statured plants exhibit very high mutation rates and the maximum inbreeding depression of unity. These results indicate that (i) inbred progeny typically observed in large-statured plant populations are completely lost prior to maturity in nearly all populations; (ii) evolutionary shifts from outcrossing to selfing are generally not possible in large-statured species, rather, large-statured species are more likely to evolve mating systems that avoid selfing such as self-incompatibility and dioecy; (iii) destabilization of the mating system-high selfing rate with high-inbreeding depression-might be a common occurrence in large-statured species; and (iv) large-statured species in fragmented populations might be at higher risk of extinction than previously thought. Our results help to unify and simplify a large and diverse field of research, and serve to emphasize the importance that developmental and genetic constraints play in the evolution of plant mating systems. PMID:16543169

Scofield, Douglas G; Schultz, Stewart T

2006-02-01

111

An Ethics Primer: A Few Short Ethics Cases  

NSDL National Science Digital Library

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).

2008-01-01

112

Stature, sitting height and relative sitting height of female northern Kyushuites.  

PubMed

Stature, sitting height and relative sitting height (a ratio of sitting height to stature) of 318 high school girls of 17 years of age in Kitakyushu City were studied. They consisted of groups over a three-year period; 1973, 1980 and 1984. There are statistically no significant changes in the stature, in the sitting height, and in the relative sitting height among these three groups. The relative sitting height of these three groups is about 54%, which is about the same as among the Chinese, Eskimos, American-Indians and the Hokkaido-Ainu. PMID:6522887

Hojo, T; Nakashima, T; Hirao, T

1984-12-01

113

Stature-for-Age and Weight-for-Age Percentiles: Girls 2 to 20 Years  

MedlinePLUS

... 62 60 in kg 10 15 20 25 30 35 80 85 90 95 100 105 110 115 120 125 130 135 140 145 150 155 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 12 13 14 15 16 17 18 19 AGE (YEARS) AGE (YEARS) 160 cm 11 3 4 5 6 7 8 9 10 95 90 ... 5 95 90 75 50 25 10 5 Date Mother’s Stature Father’s Stature Age Weight Stature BMI*

114

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

PubMed Central

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

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

2012-01-01

115

Growth hormone response to a standardised exercise test in relation to puberty and stature.  

PubMed Central

Growth hormone (GH) was measured before and 10 minutes after a standardised bicycle exercise test (duration 15 minutes) in 37 short children (group 1: mean (SD) age 12.8 (3.5) years; mean (SD) bone age 10.4 (3.6) years; mean (SD) height standard deviation score (SDS) -2.8 (0.7], 16 tall children (group 2: mean age 12.9 (2.8) years; mean bone age 13.9 (1.4) years; mean height SDS 3.0 (0.8], and 30 normal children (group 3: mean age 13.3 (3.2) years; mean bone age 12.8 (3.4) years; mean height SDS -0.4 (0.8]. Results of GH are expressed as mean (SEM). The pre-exercise GH was similar in the three groups (group 1, 8.0 (2.3) mU/l, group 2, 8.5 (2.5) mU/l, and group 3, 8.3 (2.3) mU/l). There was a significant rise in GH after exercise in all three groups. GH after exercise was higher in group 2 (35.1 (2.5) mU/l) compared with groups 1 and 3 (17.8 (3.0) and (20.8 (3.2) mU/l). Post-exercise GH was less than 10 mU/l in 29 children (34% total; 49% group 1, 6% group 2, and 34% group 3). There was a positive relation between post-exercise GH and both bone age and public hair stage. Multiple regression analysis revealed that relevant predictors of a rise in GH with exercise were different for the sexes in these children with varying stature: for boys, bone age and pubic hair stage; for girls, height and height SDS. All the tall girls were in puberty. No statistical relation was observed between post-experience GH and cardiovascular response to exercise, time of day of exercise, time of eating before exercise, and plasma insulin or insulin to glucose ratio at time of exercise. We conclude that the GH response to the physiological stimulus of exercise is higher in puberty compared with childhood. Therefore, although children may be suspected of having GH deficiency after a failure of GH to increase after exercise, a non-response may be a normal finding in prepubertal children, independent of stature.

Greene, S A; Torresani, T; Prader, A

1987-01-01

116

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

PubMed

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

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

2010-07-01

117

Extreme Tall Stature in a Japanese Boy with a 48,XXYY Karyotype  

PubMed Central

We report an 18-yr-old Japanese boy with a 48,XXYY karyotype and extreme tall stature (194 cm). A GnRH test at 12.5 yr of age showed hypergonadotropism (LH, 4.2 ? 72.2 mIU/mL; FSH, 28.9 ? 61.7 mIU/mL), and an hCG test at 15.5 yr of age revealed a normal testosterone response (1.67 ? 4.08 ng/mL). The tall stature is remarkable, because the mean adult height of Caucasian 48,XXYY patients is 181 cm. Although the underlying factors for the tall stature are unknown, this report indicates an association of the 48,XXYY karyotype with marked tall stature.

Katsushima, Yuriko; Katsushima, Fumio; Katsushima, Noriko

2008-01-01

118

Voices of athletes reveal only modest acoustic correlates of stature  

NASA Astrophysics Data System (ADS)

Recent studies of acoustic cues to body-size in nonhuman primate and human vocalizations have produced results varying from very strong relationships between formant frequencies and length/weight in rhesus monkeys to weak correlations between formants and stature in humans. The current work attempted to address these discrepancies by compiling a database of naturally occurring speech with a large number of vocalizers of maximally varying size. To that end, fundamental frequency (F0) and formant frequencies were measured in both running speech and filled pauses (i.e., ``ah'' and ``um'') produced by male athletes during televised same-day interviews. Multiple-regression analysis of data from 100 male athletes showed that these acoustic measures accounted for at most 17% of variance in height over a 37-cm range. Analyses of filled speech pauses produced by a subset of 48 athletes could account for up to 36%. These outcomes fall within the range of previously reported outcomes, indicating that while speech acoustics are correlated with body-size in human adult males, the cues provided are quite modest.

Owren, Michael J.; Anderson, John D.

2005-04-01

119

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

Microsoft Academic Search

To understand the palaeobiology of extinct hominids it is useful to estimate their body mass and stature. Although many species\\u000a of early hominid are poorly preserved, it is occasionally possible to calculate these characteristics by comparison with different\\u000a extant groups, by use of regression analysis. Calculated body masses and stature determined using these models can then be\\u000a compared. This approach

Masato Nakatsukasa; Martin Pickford; Naoko Egi; Brigitte Senut

2007-01-01

120

New soft tissue correction factors for stature estimation: results from magnetic resonance imaging.  

PubMed

In stature reconstruction using Fully's method, it is essential that a soft tissue correction factor be added to skeletal height in order to obtain an estimate of living stature. While some anthropologists consider Fully's method to be the most reliable for stature estimation, others consider it to be inadequate as it seems to be underestimating living stature, possibly due to an error in the magnitude of Fully's soft tissue factors. A recent study by Raxter and co-workers revised Fully's technique and also presented a new "universally applicable" soft tissue correction factor. The present study examines the reliability of soft tissue correction factors of Fully and Raxter et al. on a living sample of indigenous South African males. The current study is based on data collected from 28 indigenous South African (ISA) male volunteers. Standing height of each subject was measured using a stadiometer. Fully's method was used in the calculation of total skeletal height from a full body MRI scan of each subject. Subsequent analyses of the acquired data revealed that the previously derived soft tissue correction factors are not applicable to the studied sample, and why they are not applicable. The correction factors of Fully and Raxter et al. both significantly underestimate living stature in a living sample of indigenous South African males. Consequently, a new correction factor was calculated based on the prediction of living stature from TSH using regression analysis. PMID:21937173

Bidmos, Mubarak Ariyo; Manger, Paul Robert

2012-01-10

121

A Novel Homozygous Mutation in FGFR3 Causes Tall Stature, Severe Lateral Tibial Deviation, Scoliosis, Hearing Impairment, Camptodactyly, and Arachnodactyly.  

PubMed

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

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

2014-08-01

122

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

PubMed

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

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

2014-06-01

123

Karyotype determination and reproductive guidance for short stature women with a hidden Y chromosome fragment.  

PubMed

Two unrelated couples came to the Reproductive and Genetic Hospital of Citic-Xiangya to ask for reproductive guidance. One couple had an affected son and the other couple had secondary infertility. Conventional GTG banding showed that the women in both couples had a 46,X,add(X)(p22) karyotype. Further molecular cytogenetic studies showed that both women had a 46,X,der(X)t(X;Y)(p22;q11.2) karyotype and that the affected boy had inherited the derivative X chromosome, which resulted in an Xp contiguous gene syndrome. After an assessment of reproductive risk, the first couple conceived naturally and opted for prenatal diagnosis (PND) by amniocentesis. No abnormal karyotypes were found for the twin pregnancy and healthy twin girls were born after a full-term normal pregnancy. The second couple chose to undergo IVF with preimplantation genetic diagnosis (PGD). Two PGD cycles were performed by fluorescence in-situ hybridization. In the first PGD cycle, all three embryos had abnormal hybridization signals. In the second cycle, a male embryo with normal hybridization signals was transferred into the womb and a normal pregnancy was achieved. The results show the importance of detecting the derivative chromosome followed by PND or PGD if a woman carries an Xp;Yq translocation. PMID:23664816

Cheng, De-Hua; Gong, Fei; Tan, Ke; Lu, Chang-Fu; Lin, Ge; Lu, Guang-Xiu; Tan, Yue-Qiu

2013-07-01

124

Identifying biological pathways that underlie primordial short stature using network analysis  

PubMed Central

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

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

2014-01-01

125

Short but catching up: statural growth among native Amazonian Bolivian children.  

PubMed

The ubiquity and consequences of childhood growth stunting (<-2 SD in height-for-age Z score, HAZ) in rural areas of low-income nations has galvanized research into the reversibility of stunting, but the shortage of panel data has hindered progress. Using panel data from a native Amazonian society of foragers-farmers in Bolivia (Tsimane'), we estimate rates of catch-up growth for stunted children. One hundred forty-six girls and 158 boys 2 < or = age < or = 7 were measured annually during 2002-2006. Annual Delta height in cm and in HAZ were regressed separately against baseline stunting and control variables related to attributes of the child, mother, household, and village. Children stunted at baseline had catch-up growth rates 0.11 SD/year higher than their nonstunted age and sex peers, with a higher rate among children farther from towns. The rate of catch up did not differ by the child's sex. A 10% rise in household income and an additional younger sibling lowered by 0.16 SD/year and 0.53 SD/year the rate of growth. Results were weaker when measuring Delta height in cm rather than in HAZ. Possible reasons for catch-up growth include (a) omitted variable bias, (b) parental reallocation of resources to redress growth faltering, particularly if parents perceive the benefits of redressing growth faltering for child school achievement, and (c) developmental plasticity during this period when growth rates are most rapid and linear growth trajectories have not yet canalized. PMID:19844899

Godoy, Ricardo; Nyberg, Colleen; Eisenberg, Dan T A; Magvanjav, Oyunbileg; Shinnar, Eliezer; Leonard, William R; Gravlee, Clarence; Reyes-García, Victoria; McDade, Thomas W; Huanca, Tomás; Tanner, Susan

2010-01-01

126

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

SciTech Connect

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

NONE

1995-05-08

127

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

MedlinePLUS

... syndrome have distinctive facial features. These include a triangular face shape with a prominent forehead and deep- ... about genetic testing , particularly the difference between clinical tests and research tests . To locate a healthcare provider, ...

128

Blood pressure and stature in Helicobacter pylori positive and negative persons  

PubMed Central

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

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

2014-01-01

129

When Do Short Children Realize They Are Short? Prepubertal Short Children’s Perception of Height during 24 Months of Catch-Up Growth Hormone Treatment  

Microsoft Academic Search

Aim: To examine perceived height during the first 24 months of growth hormone (GH) treatment in short prepubertal children. Methods: Ninety-nine 3- to 11-year-old short prepubertal children with either isolated GH deficiency (n = 32) or idiopathic short stature (n = 67) participated in a 24-month randomized trial of individualized or fixed-dose GH treatment. Children’s and parents’ responses to three

John E. Chaplin; Berit Kriström; Björn Jonsson; Maria Halldin Stenlid; A. Stefan Aronson; Jovanna Dahlgren; Kerstin Albertsson-Wikland

2012-01-01

130

Sex chromosome aberrations and stature: deduction of the principal factors involved in the determination of adult height  

Microsoft Academic Search

Although sex chromosome aberrations are frequently associated with statural changes, the underlying factors have not been clarified. To define the factors leading to the statural changes, we took the following three steps: (1) determination of the mean adult height in non-mosaic Caucasian patients with sex chromosome aberrations reported in the literature (assessment of genetic height potential); (2) assessment of the

Tsutomu Ogata; Nobutake Matsuo

1993-01-01

131

Reliability of inter-anterior superior iliac spinous distance as compared to foot length for stature estimation in South Indians  

Microsoft Academic Search

Estimation of stature from isolated body parts is especially important to forensic scientists and anthropologists. The aims of this study were, to evaluate the accuracy of inter-anterior superior iliac spinous distance in determining stature of an individual as compared to foot length, and to note sex differences in the above mentioned parameters.One hundred normal healthy adult subjects from South India

S. Nachiket; N. Sujatha; R. Priya; V. Raveendranath; D. Rema; R. Roopa

2010-01-01

132

Estimation of stature and determination of sex from radial and ulnar bone lengths in a Turkish corpse sample  

Microsoft Academic Search

Determination of sex and estimation of stature are important aspects of forensic identification of an unknown individual. In the absence of pelvis the sex is assessed from long bones and cranium as they both provide high accuracy in sexing. The present study is an attempt to assess sex and stature from long bones of the forearm using recently deceased forensic

Osman Celbis; Hasan Agritmis

2006-01-01

133

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

SciTech Connect

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

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

1996-07-12

134

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

PubMed

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

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

2009-01-01

135

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

PubMed Central

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

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

2009-01-01

136

Capabilities of Small Stature Women to Perform Operational Flight Tasks During G-Stress. (Abstracts).  

National Technical Information Service (NTIS)

To accommodate the needs of women in participating in expanded combat roles, NAWCAD is investigating the dynamic strength capabilities of small stature females (54.4 kg (120 lb.) or less) to eject, support added head weight, and fly under G-stress. Within...

B. Shender

1999-01-01

137

Brachydactyly, distal symphalangism, scoliosis, tall stature, and club feet: a new syndrome.  

PubMed

Five members of a kindred with brachydactyly and distal symphalangism, normal stature, pes cavus, and scoliosis were ascertained. The pedigree was consistent with autosomal dominant inheritance. The combination of clinical and radiological features is believed to be distinct from those previously reported in patients with brachydactyly/symphalangism. PMID:671485

Sillence, D O

1978-06-01

138

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

Microsoft Academic Search

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

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

1995-01-01

139

Dynamic Strength Capabilities of Small Stature Females to Eject and Support Added Head Weight.  

National Technical Information Service (NTIS)

NAWCAD investigated the abilities of small stature females (=/< 120 lb) to fly under G-stress using the Dynamic Flight Simulator (DFS) and its tactical fight/attack cockpit, displays and controls. Determine ability to exert NACES ejection seat actuation p...

B. Shender P. Heffner

1999-01-01

140

Features of Two Cases with 18q Deletion Syndrome  

PubMed Central

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

Ozsu, Elif; Yesiltepe Mutlu, Gul; Bute Yuksel, Aysegul; Hatun, Sukru

2014-01-01

141

Short-stepping gait in severe heart failure  

PubMed Central

Background—Patients with severe chronic heart failure seem to take shorter steps than healthy controls when walking on a treadmill and when walking freely along a corridor. In healthy individuals the pattern of walking affects the oxygen cost of exercise, and so this observation might be relevant to the limitation of exercise in heart failure. Method—Length of stride was analysed as stride/stature index in 15 controls, 10 patients with moderate heart failure, 10 patients with severe heart failure, and 10 patients with angina, walking at a constant speed/stature index. Results—The stride/stature index was 0·64 in the controls in patients with New York Heart Association (NYHA) class II heart failure, and in patients with angina. It was 0·49 in patients with NYHA class III heart failure. In the patients with heart failure the stride/stature index correlated with exercise capacity determined as peak oxygen consumption Vo2max (R = +0·62, p < 0·005). When healthy controls walked in time to a metronome adjusted to decrease their stride/stature index to approximately that seen in severe heart failure steady-state oxygen consumption increased by a mean of 15%. Conclusions—The length of stride is reduced in severe heart failure, and when healthy controls adopt this gait the oxygen cost of walking is increased. A short-stepping gait may contribute to the limitation of exercise capacity in heart failure.

Davies, S W; Greig, C A; Jordan, S L; Grieve, D W; Lipkin, D P

1992-01-01

142

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

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.

Tan, Uner

2014-01-01

143

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

Microsoft Academic Search

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

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

144

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

Microsoft Academic Search

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

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

2003-01-01

145

Estimation of australopithecine stature from long bones: A.L.288-1 as a test case.  

PubMed

Regression equations for the estimation of stature from long bones, although derived from modern human populations, are frequently applied to early hominids. In fact, some of these equations have even been recommended or especially created to be applied to Australopithecus remains. In this study, 45 sets of regression and correlation formulae, recurrent in anthropological and medico-legal literature, are applied to long bones of the Pliocene hominid A.L.288-1 ('Lucy'), in order to assess which, if any, could be considered suitable for stature reconstruction in 'gracile' australopithecines. Virtually every method based on regression equations overestimates stature as compared with the estimate based on reconstruction of all the preserved skeletal parts. In addition, most methods failed to give consistent results with data from different limb segments. None of the sets of regression formulae tested here can be recommended as a reliable means of stature estimation in 'gracile' australopithecines. PMID:3108121

Geissmann, T

1986-01-01

146

Long-Acting Lanreotide in Adolescent Girls with Constitutional Tall Stature  

Microsoft Academic Search

Background\\/Aims: The aim of the study was to evaluate the efficacy and safety of lanreotide prolonged release (PR) 30 mg (long-acting lanreotide) in girls with constitutional tall stature (CTS). Methods: This open label prospective study included 35 girls (mean age 12.6 years) with CTS and a predicted adult height of >180 cm. Intramuscular injections of lanreotide PR 30 mg were

Jean-Claude Carel; Joëlle Blumberg; Muriel Bougeard-Julien; Pierre Rochiccioli; Jean-Louis Chaussain; Maïthé Tauber

2009-01-01

147

Adult height in constitutionally tall stature: accuracy of five different height prediction methods  

Microsoft Academic Search

The accuracy of height predictions at various ages based on five different methods (Tanner-Whitehouse mark I; Tanner-Whitehouse mark II; index of potential height; Bayley-Pinneau; Roche-Wainer-Thissen) was compared at yearly intervals with final height achieved in 32 boys (78 predictions) and 100 girls (227 predictions) with constitutionally tall stature. The boys were initially seen at a mean (SD) chronological age of

E E Joss; R Temperli; P E Mullis

1992-01-01

148

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

PubMed

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

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

149

Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.  

PubMed

Epilepsy is a phenotypically and genetically highly heterogeneous disorder with >200 genes linked to inherited forms of the disease. To identify the underlying genetic cause in a patient with intractable seizures, optic atrophy, severe intellectual disability (ID), brain abnormalities, and muscular hypotonia, we performed exome sequencing in a 5-year-old girl and her unaffected parents. In the patient, we detected a novel, de novo missense mutation in the SCN2A (c.5645G>T; p.R1882L) gene encoding the ?II -subunit of the voltage-gated sodium channel Nav 1.2. A literature review revealed 33 different SCN2A mutations in 14 families with benign forms of epilepsy and in 21 cases with severe phenotypes. Although almost all benign mutations were inherited, the majority of severe mutations occurred de novo. Of interest, de novo SCN2A mutations have also been reported in five patients without seizures but with ID (n = 3) and/or autism (n = 3). In the present study, we successfully used exome sequencing to detect a de novo mutation in a genetically heterogeneous disorder with epilepsy and ID. Using this approach, we expand the phenotypic spectrum of SCN2A mutations. Our own and literature data indicate that SCN2A-linked severe phenotypes are more likely to be caused by de novo mutations. A PowerPoint slide summarizing this article is available for download in the Supporting Information section here. PMID:24579881

Baasch, Anna-Lena; Hüning, Irina; Gilissen, Christian; Klepper, Joerg; Veltman, Joris A; Gillessen-Kaesbach, Gabriele; Hoischen, Alexander; Lohmann, Katja

2014-04-01

150

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

PubMed Central

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

2011-01-01

151

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

PubMed

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

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

2014-06-01

152

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

ERIC Educational Resources Information Center

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

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

2009-01-01

153

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

ERIC Educational Resources Information Center

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

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

2005-01-01

154

Point Mutation tRNASer(UCN) in a Child With Hearing Loss and Myoclonus Epilepsy  

Microsoft Academic Search

We report on a family with a 12-year-old boy who suffered from a maternally inherited syndrome characterized by a combination of sensorineural hearing loss, myoclonus epilepsy, ataxia, severe psychomotor retardation, short stature, and diabetes mellitus. First, he showed a muscular hypotonia with hearing loss; later, he developed a myoclonus epilepsy, growth failure, and severe psychomotor retardation. At the age of

Gian Paolo Ramelli; Sabina Gallati; Joachim Weis; Stephan Krähenbühl; Jean-Marc Burgunder

2006-01-01

155

Prader–Willi syndrome  

Microsoft Academic Search

Prader–Willi syndrome (PWS) is a highly variable genetic disorder affecting multiple body systems whose most consistent major manifestations include hypotonia with poor suck and poor weight gain in infancy; mild mental retardation, hypogonadism, growth hormone insufficiency causing short stature for the family, early childhood-onset hyperphagia and obesity, characteristic appearance, and behavioral and sometimes psychiatric disturbance. Many more minor characteristics can

Suzanne B Cassidy; Daniel J Driscoll

2009-01-01

156

Multiple Neuroendocrine Disorder in Salla Disease  

Microsoft Academic Search

Salla disease represents the slowly progressive adult form of the sialic acid storage diseases, a group of autosomal-recessive neurodegenerative disorders in which psychomotor development, ataxia, axial hypotonia, and spasticity in the lower limbs occur. No skeletal dysostosis or organomegaly is present, and life expectancy is normal. Short stature can also be observed. Progressive cerebral and cerebellar atrophy associated with dysmyelination

Salvatore Grosso; Rosario Berardi; Maria Angela Farnetani; Maria Margollicci; Maria Grazia Mancini; Guido Morgese; Paolo Balestri

2001-01-01

157

Isolated defect of peroxisomal ?-oxidation in a 16-year-old patient  

Microsoft Academic Search

We describe a 16-year-old boy suffering from psychomotor retardation, sensorineuronal hearing impairment, peripheral neuropathy, hepatosplenomegaly, short stature and delayed puberty. Postnatally, muscular hypotonia, mild facial dysmorphism and delayed fontanelle closure had been noticed. At the time of our examination, adrenal cortical function was normal. Biochemical analysis revealed accumulation of very long (>C22) chain fatty acids in plasma and fibroblasts. Furthermore,

R. Santer; A. Claviez; H. D. Oldigs; J. Schaub; R. B. H. Schutgens; R. J. A. Wanders

1993-01-01

158

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

PubMed

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

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

2010-10-01

159

Stature estimation by Carrea's index and its reliability in different types of dental alignment.  

PubMed

Stature is a measurable feature of the body, useful in human identification, which may include or exclude an individual from a missing persons list. The aim of this study is to analyze the Carrea´s index for stature estimation in dental arches with normal dentition, crowding and diastema. Plaster casts of 51 students of the Federal University of Paraíba were analyzed. Each hemiarch was divided according to the dental position, and the elements were measured with divider and digital calipers. Considering the normal and crowded dentition, the Carrea´s index presented a satisfactory success percentage, between 72.2% and 95.2%, with no statistically significant difference between sexes or between right and left sides. The presence of diastema reduced the number of matches to less than 62.5%. It was concluded that the Carrea´s index is a reliable method for height estimation in arches with normal and crowded dentitions, useful in males and females, and in the right and left sides. However, the method was not efficient in hemiarches with diastema. PMID:21841270

Lima, L; da Costa, Y; Tinoco, R; Rabello, P; Daruge, E

2011-07-01

160

Patrilineal family values, family planning and variation in stature among Taiwanese six-year-olds.  

PubMed

It has been argued that patrilineal joint family systems tend to bias family planning decisions in favour of sons. A simple model suggests that in such societies, any given son will be more highly valued by his parents (1) the fewer his brothers and (2) the earlier his birth is in the brother series. A daughter's value will be greater (1) the fewer brothers she has and (2) the earlier her birth is relative to other sisters. This study first addresses the extent of son preference as inferred from family composition data for 772 Taiwanese first-graders born in the mid-1970s in two socioeconomically distinct communities in Taipei, Taiwan. It then uses linear regression to consider whether the model criteria help account for statural variation among children in each study area when controlling for differences in measurement age, parental education and housing. With respect to family composition and gender preference, available evidence was consistent with previous surveys. While better-educated parents in the more affluent study area had significantly fewer children (p < 0.0005) and were more willing to stop without a son, girls there, as in the less affluent area, were still significantly more likely than boys to belong to large sibships (p < or = 0.005). Evidence from mean height of males and females partially accords with hypothetical predictions. In the less affluent area, the interaction effect of male birth order and the presence of younger siblings was significantly associated with mean stature (p = 0.002). Males without brothers were 2.0 cm taller than males with either an older or a younger brother (116.3 +/- 0.5 cm vs 114.3 +/- 0.4 cm). Males who had both younger and older brothers, but often no sisters, were about as tall, however, as those without brothers. A similar, but less pronounced, pattern was found among males in the more affluent area, but only among those who had sisters. These boys were also consistently shorter than boys without sisters (115.6 +/- 0.6 cm vs 117.7 +/- 0.6 cm; p = 0.001). Patterns of mean female stature did not clearly support the hypothesis. Girls in the more affluent area were relatively tall and did not show significant variation. Results among less affluent girls showed significant contrasts, but not necessarily in the predicted direction. PMID:12887219

Floyd, B

2003-07-01

161

Adult stature and age at menarche in Zapotec-speaking communities in the Valley of Oaxaca, Mexico, in a secular perspective.  

PubMed

Adult stature and the age at menarche among individuals from Zapotec-speaking communities in the Valley of Oaxaca in southern Mexico are considered in a secular perspective. Four sets of observations are utilized: 1) adult stature in males and females from five rural communities; 2) age at menarche in adult women and school girls from a single rural community; 3) earlier studies of adult stature in the Valley of Oaxaca; and 4) estimated stature from long bones excavated in various archaeological sites in the Valley of Oaxaca. There were no significant differences among the five communities for stature; hence, the data were pooled for analysis and comparison. Results of linear regression of stature and stature adjusted for the estimated effects of aging after 30 years of age on year of birth indicate negligible secular changes in either sex. Comparisons with statures from earlier surveys, the earliest dates to 1899, also indicate negligible changes. When adult women are grouped according to age, there are no differences in mean ages at menarche between the older and younger women. Mean age at menarche for the total adult sample is 14.53 +/- 0.08 years, which compares favorably with the probit estimate for school girls, 14.70 +/- 0.32 years. These results thus suggest virtually no secular change in adult size and maturity of the Zapotec-speaking population in the Valley of Oaxaca over the past 80 years. Differences in stature between contemporary populations and estimated statures from long bones from several archaeological sites in Oaxaca are small, and thus suggests little secular change over the past one to two-thousand years. PMID:6846514

Malina, R M; Selby, H A; Buschang, P H; Aronson, W L; Wilkinson, R G

1983-04-01

162

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

ERIC Educational Resources Information Center

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

Lynn, Richard

2010-01-01

163

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

PubMed Central

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

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

2011-01-01

164

Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature  

Microsoft Academic Search

Weill-Marchesani syndrome (WMS) is a well-characterized disorder in which patients develop eye and skeletal abnormalities. Autosomal-recessive and autosomal-dominant forms of WMS are caused by mutations in ADAMTS10 and FBN1 genes, respectively. Here we report on 13 patients from seven unrelated families from the Arabian Peninsula. These patients have a constellation of features that fall within the WMS spectrum and follow

Jose Morales; Latifa Al-Sharif; Dania S. Khalil; Jameela M. A. Shinwari; Prashant Bavi; Rahima A. Al-Mahrouqi; Ali Al-Rajhi; Brian F. Meyer; Nada Al Tassan

2009-01-01

165

The effects of socioeconomic status and short stature on overweight, obesity and the risk of metabolic complications in adults  

PubMed Central

Objective: to observe the relationship between socioeconomic status, height and nutritional problems related to obesity, overweight and risk of metabolic complications in men and women of Medellin (Colombia). Methods: cross-sectional study with a sample of 5556 adults between 18 and 69 years of age. We assessed weight, height and waist circumference. Socioeconomic variables were evaluated by family income, socioeconomic stratum and academic level achieved. Results: we found that in men and women the height reached in adulthood is associated with socioeconomic conditions as measured by the socioeconomic strata and family income. In women, height, age, and socioeconomic strata are associated with obesity, overweight and risk of obesity, and risk of metabolic complications. Conclusion: These results are not only from individual unhealthy habits, such as eating patterns based on high density foods combined with low energy expenditure, but also from the cumulative effect of food deprivation throughout life. Therefore, policies intended to prevent them should take a preventive approach that begins before birth and continues during childhood and adulthood.

Restrepo, Alejandro Estrada; Rueda, Juan Diego Gomez; Aguirre, Cristina Carreno; Lopez, Lorena Patricia Mancilla

2013-01-01

166

An unusual combination of idiopathic generalized short-root anomaly associated with microdontia, taurodontia, multiple dens invaginatus, obliterated pulp chambers and infected cyst: a case report.  

PubMed

Generalized diminished root formation is a rare condition leading to early loss of teeth. This report describes an unusual case of generalized short roots associated with microdontia, taurodontism of posterior teeth, and multiple dens invaginatus along with short stature in a 20-year-old man, who had lost several teeth because of spontaneous exfoliation. PMID:16827843

Desai, Rajiv S; Vanaki, Srinivas S; Puranik, Rudrayya S; Rashmi, G S; Nidawani, Prakash

2006-08-01

167

Is the length of the sternum reliable for estimating adult stature? A pilot study using fresh sterna and a test of two methods using dry sterna.  

PubMed

Stature estimation is one of the four attributes of the biological profile obtained from human skeletal remains. The length of the long bones has been consistently used to estimate stature from regression equations, but these may be useless when dealing with fresh or decomposed mutilated remains. Until recently, there was no consistent assessment of the reliability of measurements of the sternum for stature estimation. The purpose of this paper is to test previously developed regression formulae for stature based on measurements of the dry sternum and to assess the reliability of measurements of the fresh sternum in estimating stature. The formulae developed by Menezes et al. and Singh et al. were applied to a sample of 5 known stature skeletons from the identified human skeletal collection curated at the National Museum of Natural History, in Lisbon, Portugal. Testing of these formulae showed that estimated stature confidence intervals do not allow discrimination between individuals with similar stature. The length of the fresh sternum was measured on a sample of 45 male individuals autopsied at the National Institute of Legal Medicine - North Delegation (Porto, Portugal). Cadaver length was regressed on sternum length and a simple linear regression formula was obtained. The regression model provided a 95% confidence interval of 13.32 cm and a correlation coefficient of only 0.329. Compared to other studies, regression formulae based on the length of the sternum provided considerably larger standard errors than that based on long bone lengths. These results suggest that the length of the sternum has limited forensic value and relatively low reliability in estimating stature from mutilated human skeletal remains, either skeletonized or fresh. PMID:22421326

Marinho, Luísa; Almeida, Dina; Santos, Agostinho; Cardoso, Hugo F V

2012-07-10

168

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

Microsoft Academic Search

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

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

169

Adult height of prepubertal short children born small for gestational age treated with GH  

Microsoft Academic Search

Objective: Human GH (hGH) treatment leads to catch-up growth in children with short stature born small for gestational age (SGA). However, long-term efficacy and safety results in this patient group remain scarce. The present study assessed the efficacy and safety of late childhood treatment with bio- synthetic hGH (Humatrope) in a group of short children born SGA (height ,2 2

Myriam Rosilio; Jean-Claude Carel; Emmanuel Ecosse; Jean-Louis Chaussain

2005-01-01

170

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

PubMed Central

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.

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

2004-01-01

171

Plant stature of aromatic rice genotypes in the environment of Bangladesh.  

PubMed

Plant stature of a rice crop is an important selection criterion. As plant height is a quantitative trait it is influenced by environmental conditions. A field experiment was conducted with 40 rice genotypes to assess the fluctuation and stability of plant height in a series of 16 environmental situations. The effects of genotype (G), environment (E) and all the components of GxE interaction were highly significant. Among the genotypes, Jamai sohagi was extremely sensitive (bi = 1.37) to environmental changes, and indicating lowest adaptability over the environments. Plant height of seven genotypes viz. Basmati PNR346, Benaful, BRRIdhan28, BRRIdhan38, BRRIdhan39, Gandho kasturi and Neimat, having the bi values between 0.59 and 0.72, showed high stability against environmental changes. The otherseven genotypes viz. Badshabhog, Basmati Tapl-90, Kamini soru, Khazar, Laljira, Sarwati and Ukni madhu expressed only nonlinear sensitivity (S2di = 90-181)) and thus unpredictable fluctuation. Twenty one genotypes indicated their average stability (bi = 0.91-1.15) over the environments. PMID:22471222

Shahidullah, S M; Hanafi, M M; Ashrafuzzaman, M; Hakim, M A; Karim, M R

2011-11-01

172

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

PubMed

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

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

2006-12-01

173

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

PubMed Central

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.

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

2010-01-01

174

Early, Discontinuous, High Dose Growth Hormone Treatment to Normalize Height and Weight of Short Children Born Small for Gestational Age: Results Over 6 Years  

Microsoft Academic Search

Most children born small for gestational age (SGA) normalize their size through spontaneous catch-up growth within the first 2 yr after birth. Some SGA children fail to do so and maintain an abnormally short stature throughout childhood. We have previously reported that high dose GH treatment (66 or 100 mg\\/kgzday sc over 2 yr; age at start, 2- 8 yr;

FRANCIS DE ZEGHER; MARC V. L. DU; CLAUDINE HEINRICHS; MARC MAES; JEAN DE SCHEPPER; MARGARETA CRAEN; KARIN VANWESER; PAUL MALVAUX; RON G. ROSENFELD

175

Results of early reevaluation of growth hormone secretion in short children with apparent growth hormone deficiency  

Microsoft Academic Search

Objective: To test the hypothesis that normalization of the growth hormone (GH) response to stimulation in patients with GH deficiency (GHD) and normal magnetic resonance imaging (MRI) of the hypothalamic-pituitary area might occur earlier than at attainment of final height. Study design: Prepubertal children with short stature (21 boys and 12 girls; age, 5.2-10 years), in whom a diagnosis of

Sandro Loche; Carla Bizzarri; Mohamad Maghnie; Antonella Faedda; Chryssoula Tzialla; Michele Autelli; Maria Rosaria Casini; Marco Cappa

2002-01-01

176

Lucy's length: stature reconstruction in Australopithecus afarensis (A.L.288-1) with implications for other small-bodied hominids.  

PubMed

New stature estimates are provided for A.L.288-1 (Australopithecus afarensis) based on (1) the relationship between femur length and stature in separate samples of human pygmies and pygmy chimpanzees and (2) model II regression alternatives to standard least-squares methods. Estimates from the two samples are very similar and converge on a value of approximately 3'6" for "Lucy." These results are compared to prior estimates and extended to other small-bodied hominids such as STS-14 and O.H.62. A new foot-to-stature ratio is also estimated for A.L.288-1, and its potential biomechanical significance for gait is evaluated in comparison to other groups. PMID:3137822

Jungers, W L

1988-06-01

177

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

PubMed

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

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

2013-01-01

178

A statistical human rib cage geometry model accounting for variations by age, sex, stature and body mass index.  

PubMed

In this study, we developed a statistical rib cage geometry model accounting for variations by age, sex, stature and body mass index (BMI). Thorax CT scans were obtained from 89 subjects approximately evenly distributed among 8 age groups and both sexes. Threshold-based CT image segmentation was performed to extract the rib geometries, and a total of 464 landmarks on the left side of each subject?s ribcage were collected to describe the size and shape of the rib cage as well as the cross-sectional geometry of each rib. Principal component analysis and multivariate regression analysis were conducted to predict rib cage geometry as a function of age, sex, stature, and BMI, all of which showed strong effects on rib cage geometry. Except for BMI, all parameters also showed significant effects on rib cross-sectional area using a linear mixed model. This statistical rib cage geometry model can serve as a geometric basis for developing a parametric human thorax finite element model for quantifying effects from different human attributes on thoracic injury risks. PMID:24861634

Shi, Xiangnan; Cao, Libo; Reed, Matthew P; Rupp, Jonathan D; Hoff, Carrie N; Hu, Jingwen

2014-07-18

179

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

Microsoft Academic Search

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

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

2010-01-01

180

Association of Maternal Stature With Offspring Mortality, Underweight, and Stunting in Low- to Middle-Income Countries  

PubMed Central

Context Although maternal stature has been associated with offspring mortality and health, the extent to which this association is universal across developing countries is unclear. Objective To examine the association between maternal stature and offspring mortality, underweight, stunting, and wasting in infancy and early childhood in 54 low- to middle-income countries. Design, Setting, and Participants Analysis of 109 Demographic and Health Surveys in 54 countries conducted between 1991 and 2008. Study population consisted of a nationally representative cross-sectional sample of children aged 0 to 59 months born to mothers aged 15 to 49 years. Sample sizes were 2 661 519 (mortality), 587 096 (underweight), 558 347 (stunting), and 568 609 (wasting) children. Main Outcome Measures Likelihood of mortality, underweight, stunting, or wasting in children younger than 5 years. Results The mean response rate across surveys in the mortality data set was 92.8%. In adjusted models, a 1-cm increase in maternal height was associated with a decreased risk of child mortality (absolute risk difference [ARD], 0.0014; relative risk [RR], 0.988; 95% confidence interval [CI], 0.987–0.988), underweight (ARD, 0.0068; RR, 0.968; 95% CI, 0.968–0.969), stunting (ARD, 0.0126; RR, 0.968; 95% CI, 0.967–0.968), and wasting (ARD, 0.0005; RR, 0.994; 95% CI, 0.993–0.995). Absolute risk of dying among children born to the tallest mothers (?160 cm) was 0.073 (95% CI, 0.072–0.074) and to those born to the shortest mothers (<145 cm) was 0.128 (95% CI, 0.126–0.130). Country-specific decrease in the risk for child mortality associated with a 1-cm increase in maternal height varied between 0.978 and 1.011, with the decreased risk being statistically significant in 46 of 54 countries (85%) (?=.05). Conclusion Among 54 low- to middle-income countries, maternal stature was inversely associated with offspring mortality, underweight, and stunting in infancy and childhood.

Ozaltin, Emre; Hill, Kenneth; Subramanian, S. V.

2011-01-01

181

The small child: anthropometric and physical performance characteristics of short-for-age children growing in good and in poor socio-economic conditions  

Microsoft Academic Search

Objective: To ascertain whether individuals whose short stature is caused by poor living conditions differ in their other biological characteristics from those individuals who grow short, supposedly due to their genetic endowment, under favourable environmental conditions.Design: From the growth survey of nearly 4000 children of the ‘Cape Coloured’ community aged 6–18 y half of whom lived in the middle-class suburbs

M Henneberg; GA Harrison; G Brush

1998-01-01

182

De novo microdeletion of Xp11.3 exclusively encompassing the monoamine oxidase A and B genes in a male infant with episodic hypotonia: a genomics approach to personalized medicine.  

PubMed

Monoamine oxidase A and B (MAOA and MAOB) play key roles in deaminating neurotransmitters and various other biogenic amines. Patients deficient in one or both enzymes have distinct metabolic and neurologic profiles. MAOB deficient patients exhibit normal clinical characteristics and behavior, while MAOA deficient patients have borderline intellectual deficiency and impaired impulse control. Patients who lack both MAOA and MAOB have the most extreme laboratory values (urine, blood, and CSF serotonin 4-6 times normal, with elevated O-methylated amine metabolites and reduced deaminated metabolites) in addition to severe intellectual deficiency and behavioral problems. Mice lacking maoa and moab exhibit decreased proliferation of neural stem cells beginning in late gestation and persisting into adulthood. These mice show significantly increased monoamine levels, particularly serotonin, as well as anxiety-like behaviors as adults, suggesting that brain maturation in late embryonic development is adversely affected by elevated serotonin levels. We report the case of a male infant with a de novo Xp11.3 microdeletion exclusively encompassing the MAOA and MAOB genes. This newly recognized X-linked disorder is characterized by severe intellectual disability and unusual episodes of hypotonia, which resemble atonic seizures, but have no EEG correlate. A customized low dietary amine diet was implemented in an attempt to prevent the cardiovascular complications that can result from the excessive intake of these compounds. This is the second report of this deletion and the first attempt to maintain the patient's cardiovascular health through dietary manipulation. Even though a diet low in tyramine, phenylethylamine, and dopa/dopamine is necessary for long-term management, it will not rescue the abnormal monoamine profile seen in combined MAOA and MAOB deficiency. Our patient displays markedly elevated levels of serotonin in blood, serum, urine, and CSF while on this diet. Serotonin biosynthesis inhibitors like para-chlorophenylalanine and p-ethynylphenylalanine may be needed to lower serotonin levels in patients with absent monoamine oxidase enzymes. PMID:22365943

O'Leary, Ryan E; Shih, Jean C; Hyland, Keith; Kramer, Nancy; Asher, Y Jane Tavyev; Graham, John M

2012-05-01

183

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

Microsoft Academic Search

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

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

1998-01-01

184

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

Microsoft Academic Search

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

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

2009-01-01

185

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

Microsoft Academic Search

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

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

2009-01-01

186

Prevalence of pathogenetic MC4R mutations in Italian children with early Onset obesity, tall stature and familial history of obesity  

Microsoft Academic Search

BACKGROUND: Melanocortin-4-receptor (MC4R) mutations represent the most frequent genetic cause of non-syndromic early onset obesity. Children carrying MC4R mutations seem to show a particular phenotype characterized by early onset, severe obesity and high stature. To verify whether MC4R mutations are associated with this particular phenotype in the Italian pediatric population, we decided to screen the MC4R gene in a group

Nicola Santoro; Grazia Cirillo; Zhimin Xiang; Rita Tanas; Nella Greggio; Giuseppe Morino; Lorenzo Iughetti; Alessandra Vottero; Alessandro Salvatoni; Mario Di Pietro; Antonio Balsamo; Antonino Crinò; Anna Grandone; Carrie Haskell-Luevano; Laura Perrone; Emanuele del Giudice

2009-01-01

187

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

PubMed

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

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

2014-07-01

188

The physical stature of Jewish men in Poland in the second half of the 19th century.  

PubMed

Since 1843 Jews inhabiting the Kingdom of Poland were obliged to serve in the Russian army and therefore were examined by draft boards on a par with Christians. We explore the trends in the height of recruits by religion and place of birth. Basing on samples drawn from 21-year-old conscripts born between 1845 and 1892 we find that Jewish conscripts were shorter than the Christians by 2.5 cm at the beginning of the period under scrutiny and the difference exceeded 4 cm in the 1890s. The height of Jewish conscripts inhabiting provincial towns declined in the late 1880s and in the early 1890s was about the same as in the 1840s, i.e. 161 cm. The socioeconomic crisis of provincial towns caused a massive migration to Warsaw and abroad as well. In the 1870s the stature of Warsaw and provincial Jews was similar, but in the early 1890s men from Warsaw were by 2 cm taller than provincial Jews. The height gap mirrors the difference in the standard of living between Warsaw and provincial towns. PMID:21195039

Kopczy?ski, Micha?

2011-03-01

189

Sources of variation in growth, form, and survival in dwarf and normal-stature pitch pines (Pinus rigida, Pinaceae) in long-term transplant experiments.  

PubMed

Determining the relative contributions of genetic and environmental factors to phenotypic variation is critical for understanding the evolutionary ecology of plant species, but few studies have examined the sources of phenotypic differentiation between nearby populations of woody plants. We conducted reciprocal transplant experiments to examine sources of variation in growth rate, form, survival, and maturation in a globally rare dwarf population of pitch pine (Pinus rigida) and in surrounding populations of normal-stature pitch pines on Long Island, New York. Transplants were monitored over a 6-yr period. The influence of seedling origin on height, growth rate, survival, and form (single-stemmed vs. multi-stemmed growth habit) was much smaller than the effect of transplanting location. Both planting site and seed origin were important factors in determining time to reproduction; seedlings originating from dwarf populations and seedlings planted at the normal-stature site reproduced earliest. These results suggest that many of the differences between dwarf and normal-stature pitch pines may be due more to plastic responses to environmental factors than to genetic differentiation among populations. Therefore, preservation of the dwarf pine habitat is essential for preserving dwarf pine communities; the dwarf pines cannot be preserved ex situ. PMID:21642178

Fang, Wei; Taub, Daniel R; Fox, Gordon A; Landis, R Matthew; Natali, Susan; Gurevitch, Jessica

2006-08-01

190

X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family  

Microsoft Academic Search

X-linked mental retardation (XLMR) is a heterogeneous disorder that can be classified as either non-specific (MRX), when mental retardation is the only feature, or as syndromic mental retardation (MRXS). Genetic defects underlying XLMR are being identified at a rapid pace, often starting from X-chromosomal aberrations and XLMR families with a well-defined linkage interval. Here, we present a new family with

Hilde Van Esch; Ginevra Zanni; Maureen Holvoet; Martine Borghgraef; Jamel Chelly; Jean-Pierre Fryns; Koenraad Devriendt

2005-01-01

191

X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family  

Microsoft Academic Search

X-linked mental retardation (XLMR) is a heterogeneous disorder that can be classified as either non-specific (MRX), when mental retardation is the only feature, or as syndromic mental retardation (MRXS). Genetic defects underlying XLMR are being identified at a rapid pace, often starting from X-chromosomal aberrations and XLMR families with a well-defined linkage interval. Here, we present a new family with

Hilde Van Esch; Ginevra Zanni; Maureen Holvoet; Martine Borghgraef; Jamel Chelly; Jean-Pierre Fryns; Koenraad Devriendt

2004-01-01

192

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

ERIC Educational Resources Information Center

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

Csapo, Marg

1991-01-01

193

FBN1 gene mutation defines the profibrillin to fibrillin processing site and segregates with tall stature in a family  

SciTech Connect

Dermal fibroblasts from a 13-year-old boy with skeletal features of the Marfan syndrome were used to study fibrillin synthesis and processing. Synthesis and secretion of profibrillin was normal but only half of the secreted profibrillin was converted to fibrillin, an extracellular proteolytic processing that removes a 20 kDa fragment from the protein. All the secreted profibrillin was processed to fibrillin in control cells. Only the processed form of fibrillin was deposited into the extracellular matrix in both the proband`s and the control cells. Electron microscopic examination of rotary shadowed microfibrils made by the proband`s fibroblasts were indistinguishable from control cells. Screening exons in the 3{prime} end of the FBN1 gene revealed a heterozygous C to T transition at nucleotide 5482 of the FBN1 cDNA changing R 1828 to W. This mutation disrupts a known consensus sequence recognized by a cellular protease and is located in the carboxy terminus at a site predicted to remove a 19 kD fragment. The proband and his 22-year-old brother, also heterozygous for the mutation, have had normal echocardiograms and ophthalmologic exams. The mutation segregated in the proband`s three generation family with autosomal dominant inheritance of height (> 90th percentile) and no known cardiovascular or ocular problems, including the 67-year-old grandmother (exams pending). The mutation was not found in 90 chromosomes from unrelated individuals. In summary, (1) the mutation identifies the cleavage site for the conversion of profibrillin to fibrillin; (2) the characterized mutation segregates in the family with tall stature without known cardiovascular or ocular problems; (3) this mutation potentially defines the phenotype associated with a {open_quotes}null{close_quotes} allele for the FBN1 gene.

Grossfield, J.; Cao, S.; Milewicz, D. [Univ. of Texas Medical School, Houston, TX (United States)] [and others

1994-09-01

194

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

PubMed

Several dwarf plum genotypes (Prunus salicina L.), due to deficiency of unknown gibberellin (GA) signalling, were identified. A cDNA encoding GA 2-oxidase (PslGA2ox), the major gibberellin catabolic enzyme in plants, was cloned and used to screen the GA-deficient hybrids. This resulted in the identification of a dwarf plum hybrid, designated as DGO24, that exhibits a markedly elevated PslGA2ox signal. Grafting 'Early Golden' (EG), a commercial plum cultivar, on DGO24 (EG/D) enhanced PslGA2ox accumulation in the scion part and generated trees of compact stature. Assessment of active GAs in such trees revealed that DGO24 and EG/D accumulated relatively much lower quantities of main bioactive GAs (GA(1) and GA(4)) than control trees (EG/M). Moreover, the physiological function of PslGA2ox was studied by determining the molecular and developmental consequences due to ectopic expression in Arabidopsis. Among several lines, two groups of homozygous transgenics that exhibited contrasting phenotypes were identified. Group-1 displayed a dwarf growth pattern typical of mutants with a GA deficiency including smaller leaves, shorter stems, and delay in the development of reproductive events. In contrast, Group-2 exhibited a 'GA overdose' phenotype as all the plants showed elongated growth, a typical response to GA application, even under limited GA conditions, potentially due to co-suppression of closely related Arabidopsis homologous. The studies reveal the possibility of utilizing PslGA2ox as a marker for developing size-controlling rootstocks in Prunus. PMID:22080981

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

2012-02-01

195

Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation.  

PubMed

We have observed over 25 different mutations in the diastrophic dysplasia sulphate transporter gene (DTDST) in association with the recessive disorders achondrogenesis 1B, atelosteogenesis 2, and diastrophic dysplasia. The c862t (R279W) transition is the most common mutation in non-Finnish patients, but in these disorders it is usually combined with other DTDST mutations. We had not seen a case of homozygosity for c862t (R279W) until we analysed DNA from a 36 year old male with tall-normal stature (180 cm) who asked for genetic counselling for suspected multiple epiphyseal dysplasia. He was treated for club foot and hip dysplasia at birth. Skeletal changes consistent with multiple epiphyseal dysplasia, with the peculiar finding of a double layered patella, were recognised during childhood. Cleft palate, swelling of the ear pinna, and hitch hiker thumb were absent. He was found to be homozygous, and both healthy parents heterozygous, for the R279W mutation in DTDST, and his fibroblasts showed a sulphate incorporation defect typical of DTDST disorders. Counselling was given for a recessive disorder, thereby considerably reducing the probability of affected offspring. Multiple epiphyseal dysplasia is more frequently caused by dominant mutations in the COMP (EDM1, McKusick 132400) and COL9A2 genes (EDM2, McKusick 600204). A few other patients and families with features similar to our proband have been described previously and considered to have autosomal recessive MED (EDM4, McKusick 226900). This observation confirms the existence of this entity and assigns it to the phenotypic spectrum associated with mutations at the DTDST locus. PMID:10465113

Superti-Furga, A; Neumann, L; Riebel, T; Eich, G; Steinmann, B; Spranger, J; Kunze, J

1999-08-01

196

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

PubMed Central

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

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

2012-01-01

197

Short Circuit  

NSDL National Science Digital Library

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

Exploratorium, The

2011-12-02

198

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

SciTech Connect

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

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

1995-11-20

199

Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the OPHN1 gene on Xq12  

PubMed Central

We report on a patient with mental retardation, seizures and tall stature with advanced bone age in whom a de novo apparently balanced chromosomal rearrangement 46,XX,t(X;9)(q12;p13.3) was identified. Using array CGH on flow-sorted derivative chromosomes (array painting) and subsequent FISH and qPCR analysis, we mapped and sequenced both breakpoints. The Xq12 breakpoint was located within the gene coding for oligophrenin 1 (OPHN1) whereas the 9p13.3 breakpoint was assigned to a non-coding segment within a gene dense region. Disruption of OPHN1 by the Xq12 breakpoint was considered the major cause of the abnormal phenotype observed in the proband.

Menten, Bjorn; Buysse, Karen; Vermeulen, Stefan; Meersschaut, Valerie; Vandesompele, Jo; Ng, Bee L.; P.Carter, Nigel; Mortier, Geert R.; Speleman, Frank

2009-01-01

200

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

SciTech Connect

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

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

1989-12-01

201

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

PubMed

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 two candidate regions on chromosomes 8q and 6. The strongest support for linkage was with chromosome 6p microsatellite marker D6S282 with a two-point lod score of 4.84 (theta = .03). Furthermore, the multipoint lod score was 5.70 in the interval between D6S282 and D6S291. These data show that the gene for autosomal dominant CCD is located within a 19-cM interval on the short arm of chromosome 6, between D6S282 and D6S291. PMID:7717404

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

1995-04-01

202

An infant with ring 17 chromosome and unusual dermatoglyphs: a new syndrome?  

PubMed Central

A case of ring 17 chromosome in a 5-month-old male infant is investigated and compared with five previously reported cases. The findings commonly observed in these patients include mental and motor retardation, seizures, short stature, muscular hypotonia, and microcephaly among others. Dermatoglyphic studies showed an increased number of ulnar loops. More interestingly, bilateral transverse hypothenar creases were noted. Two of the reported cases also had unspecified genital abnormalities. The variation in clinical findings among these patients may be explained by a difference in the breakpoints on chromosome 17. Images

Carpenter, N J; Leichtman, L G; Stamper, S; Say, B

1981-01-01

203

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

PubMed Central

Recent genome-wide (GW) scans have identified several independent loci affecting human stature, but their contribution through the different skeletal components of height is still poorly understood. We carried out a genome-wide scan in 12,611 participants, followed by replication in an additional 7,187 individuals, and identified 17 genomic regions with GW-significant association with height. Of these, two are entirely novel (rs11809207 in CATSPER4, combined P-value?=?6.1×10?8 and rs910316 in TMED10, P-value?=?1.4×10?7) and two had previously been described with weak statistical support (rs10472828 in NPR3, P-value?=?3×10?7 and rs849141 in JAZF1, P-value?=?3.2×10?11). One locus (rs1182188 at GNA12) identifies the first height eQTL. We also assessed the contribution of height loci to the upper- (trunk) and lower-body (hip axis and femur) skeletal components of height. We find evidence for several loci associated with trunk length (including rs6570507 in GPR126, P-value?=?4×10?5 and rs6817306 in LCORL, P-value?=?4×10?4), hip axis length (including rs6830062 at LCORL, P-value?=?4.8×10?4 and rs4911494 at UQCC, P-value?=?1.9×10?4), and femur length (including rs710841 at PRKG2, P-value?=?2.4×10?5 and rs10946808 at HIST1H1D, P-value?=?6.4×10?6). Finally, we used conditional analyses to explore a possible differential contribution of the height loci to these different skeletal size measurements. In addition to validating four novel loci controlling adult stature, our study represents the first effort to assess the contribution of genetic loci to three skeletal components of height. Further statistical tests in larger numbers of individuals will be required to verify if the height loci affect height preferentially through these subcomponents of height.

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

2009-01-01

204

Short root anomaly.  

PubMed

A case of generalised short root anomaly is described. All permanent teeth had abnormally short roots, associated with microdontia, hypodontia and a dens invaginatus. Members of the patient's family were similarly affected. PMID:2261278

Edwards, D M; Roberts, G J

1990-11-10

205

Tall Stature, Insulin Resistance, and Disturbed Behavior in a Girl with the Triple X Syndrome Harboring Three SHOX Genes: Offspring of a Father with Mosaic Klinefelter Syndrome but with Two Maternal X Chromosomes  

Microsoft Academic Search

Aims: To describe the tall stature and its possible underlying mechanism in a Caucasian girl (age 12 years and 10 months) with 46,XX (28%)\\/47,XXX (72%) mosaicism and to identify the parental origin of her extra X chromosome. Methods: The fasting glucose-to-insulin ratio was studied. The karyotypes of the girl and her parents as well as the presence of SHOX copies

Christina Kanaka-Gantenbein; Sophia Kitsiou; Ariadni Mavrou; Lela Stamoyannou; Aggeliki Kolialexi; Kyriaki Kekou; Magda Liakopoulou; George Chrousos

2004-01-01

206

Short-lived uncertainty?  

NASA Astrophysics Data System (ADS)

Short-lived greenhouse gases and black-carbon aerosols have contributed to past climate warming. Curbing their emissions and quantifying the forcing by all short-lived components could both mitigate climate change in the short term and help to refine projections of global warming.

Penner, Joyce E.; Prather, Michael J.; Isaksen, Ivar S. A.; Fuglestvedt, Jan S.; Klimont, Zbigniew; Stevenson, David S.

2010-09-01

207

Influence of maternal stature, pregnancy age, and infant birth weight on growth during childhood in Yucatan, Mexico: a test of the intergenerational effects hypothesis.  

PubMed

In developing nations, obesity has increased dramatically in the last decade, but a high prevalence of stunting still coexists. The intergenerational influences hypothesis (IIH) is one explanation for this. We test the IIH regarding variation in maternal stature, mother's age at pregnancy, and infant birth weight in relation to risk for overweight and stunting in 206 Maya children (4-6 years old) from Mérida, Yucatan, Mexico. The Maya children are compared with growth references (Frisancho 2008: Anthropometric Standards: An Interactive Nutritional Reference of Body Size and Body Composition for Children and Adults. Ann Arbor, MI: The University of Michigan Press. 335 pp) for height, weight, and body mass index (BMI). Almost 70% of the mothers are shorter than 150 cm. Mothers' height and child's birth weight predict overweight. Children with a mother shorter than 150 cm are less than half as likely (OR = 0.44) to be overweight compared to children whose mothers are equal to or taller than 150 cm. Children with birth weights below 3,000 g are only a third as likely to be overweight (OR = 0.28) than their peers within the range of normal birth weight (3,000-3,500 g). Sex of the child, mother's height, and birth weight predict stunting. Girls are only 40% as likely as boys to be stunted. Children with a mother below 150 cm are 3.6 times more likely of being stunted. Children with birth weights below 3000 g are over 3 times more likely to be stunted relative to children with birth weights within the normal range. Mother's age at pregnancy is not a predictor of overweight or stunting. Our findings conform the IIH and with similar studies of populations undergoing nutritional/epidemiological transitions from traditional to globalized lifestyles. PMID:19214997

Varela-Silva, Maria Inês; Azcorra, Hugo; Dickinson, Federico; Bogin, Barry; Frisancho, A R

2009-01-01

208

Enjoying Short Stories: English.  

ERIC Educational Resources Information Center

An outline of a quinmester course to increase the student's understanding and enjoyment of the short story is provided. The outline contains performance objectives, course content, teaching strategies, and lists of student and teacher resources. Elements of the short story that are emphasized are point of view, setting, theme, plot, and character.…

Singleton, Clifford G.; Rice, M. Paul

209

Short backfire antenna research  

Microsoft Academic Search

In this paper, a method is presented for analysis of a short backfire antenna. A new type backfire antenna whose gain is about 2.5 dB higher than that of a normal short backfire antenna is developed successfully, without the increase of size of antenna aperture.

Lin Changlu; Song Ximing

1983-01-01

210

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

PubMed Central

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.

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

211

Genetics Home Reference: Thanatophoric dysplasia  

MedlinePLUS

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

212

Precocious puberty and statural growth  

Microsoft Academic Search

Precocious puberty results mostly from the precocious activation of the gonadotropic axis. Although the age limits have recently been discussed, most physicians consider that onset of pubertal development before the age of 8 years in a girl or 9 years in a boy warrants at least a clinical and bone age evaluation by a paediatric endocrinologist. The major concern in

Jean-Claude Carel; Najiba Lahlou; Marc Roger; Jean Louis Chaussain

2004-01-01

213

Proposal Writing Short Course  

NSDL National Science Digital Library

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

Foundation Center (Foundation Center)

2012-01-04

214

Short pulse test set  

NASA Astrophysics Data System (ADS)

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

1990-11-01

215

Changes in circadian rhythm of prolactin in short children are dependent on growth hormone secretion.  

PubMed

introduction and objective. Taking into consideration the common ontogenic origin of prolactin (Prl) and growth hormone (GH), the Prl circadian pattern was analysed in children with different degrees of GH deficiency (GHD). materials and methods. The analysis comprised 100 short children (31 girls and 69 boys), aged: 10.1±3.51 years. Based on maximal GH secretion (GHmax) during two stimulating tests multiple hormone deficiency (MPHD), severe isolated GHD (SIGHD), partial isolated GHD (PIGHD) or idiopathic short stature (ISS) were diagnosed. Non-inferential chronobiometry (macroscopic analysis) of the circadian Prl rhythm, based on serum Prl measured every 3 hours during 24 hours, was performed. In this analysis, mesor, the area under curve (AUC), peak and trough level, dispersion, mean nocturnal and diurnal concentration, night/day ratio, amplitude and regression index were estimated. results. In the study group, the positive correlations between GHmax and Prl concentrations at 02:00 and at 05:00 were observed, as well as between GHmax and mesor, amplitude, mean nocturnal concentration, night/day ratio and AUC. The nocturnal rise of Prl secretion was blunted in 100% MPHD and 50% SIGHD children, whereas in most children with PIGHD and ISS, the circadian Prl rhythm was normal. conclusions. 1) In short children, the lower the concentration of GH is, the more blunted nocturnal Prl secretion becomes. 2) In the majority of MPHD and SIGHD children (but not PIGHD), the circadian Prl rhythm was disturbed; namely, reduced nocturnal Prl secretion was noticeable. PMID:24959807

Stawerska, Renata; Smyczy?ska, Joanna; Hilczer, Maciej; Lewi?ski, Andrzej

2014-06-10

216

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

PubMed

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

Le Goff, Carine; Cormier-Daire, Valérie

2012-08-15

217

Short wavelength FELS  

SciTech Connect

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

Sheffield, R.L.

1991-01-01

218

Troubling Practices: Short Responses  

ERIC Educational Resources Information Center

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

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

2012-01-01

219

Modified Short Backfire Antenna.  

National Technical Information Service (NTIS)

Measurements have shown it possible to increase the gain of the short backfire antenna significantly in different ways: (1) By increasing the size of the reflectors. (2) By placing extra reflectors in multiples of a half wavelength from the surface wave r...

F. A. Hass

1971-01-01

220

Short, Taught and Vulnerable  

ERIC Educational Resources Information Center

Evaluated was the educational and psychological status of 28 children of markedly short height ranging in age from an 8-year-old (the size of a 5-year-old) to a 14 3/4-year-old (also the size of a 5-year-old). (DB)

Dorner, Steven; Elton, Anne

1973-01-01

221

Short wavelength laser  

DOEpatents

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.

Hagelstein, P.L.

1984-06-25

222

Science Shorts: Building Bridges  

NSDL National Science Digital Library

London Bridge is falling down, falling down...Can you finish the song? Although there are various stories that suggest the meaning of this famous nursery rhyme, the London Bridge, which spans the River Thames, did indeed "fall down" several times throughout history. This month's Science Shorts explores what makes bridges stay up. A corresponding activity is included.

Adams, Barbara

2006-07-01

223

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

PubMed Central

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

2014-01-01

224

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

SciTech Connect

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 two candidate regions on chromosomes 8q and 6. The strongest support for linkage was with chromosome 6p microsatellite marker D6S282 with a two-point lod score of 4.84 ({theta} = .03). Furthermore, the multipoint lod score was 5.70 in the interval between D6S282 and D6S291. These data show that the gene for autosomal dominant CCD is located within a 19-cM interval on the short arm of chromosome 6, between D6S282 and D6S291. 25 refs., 3 figs., 1 tab.

Feldman, G.F.; Muenke, M.; Robin, N.H.; Zackai, E.H. [Children`s Hospital of Philadelphia, PA (United States)]|[Univ. of Pennsylvania, Philadelphia, PA (United States); Gasser, D.L.; Bailey, C. [Univ. of Pennsylvania, Philadelphia, PA (United States); Siegel-Bartelt, J. [Hospital for Sick Children, Toronto (Canada); Brueton, L.A.; Robertson, E.; Thompson, E.M.

1995-04-01

225

Short wavelength laser  

DOEpatents

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.

Hagelstein, Peter L. (Livermore, CA)

1986-01-01

226

Short wavelength chemical lasers  

SciTech Connect

Experimental results on the operation of HF chemical lasers on the v = 2 to v = 0 overtone transitions are presented. Two separate CW laser devices with gain lengths of 15 and 30 cm produced 21 and 56 W of overtone power. The comparable power on fundamental transitions of the same lasers was 97 and 180 W. Thus, these overtone HF lasers produce 22 and 31 percent of the available fundamental power, much higher percentages than previous overtone chemical lasers. The implications of this new short wavelength chemical laser for high power lasers are discussed briefly. 17 references.

Jeffers, W.Q.

1989-01-01

227

Online Short Course: The Universe  

NSDL National Science Digital Library

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

1900-01-01

228

Lengthening the short nose.  

PubMed

In the more difficult cases of short nose deformity in which there is loss of septal membrane, lining as well as cartilage must be provided to adequately correct the functional and aesthetic deformity. A discussion of these techniques is outlined and a procedure discussed that makes use of staggered septal incisions to aid in implanting the composite conchal graft. After release of the entire inferior septal columella unit, a gap remains, which is filled by a composite conchal graft. The mechanics of the steplike incisions enable the bare-grafted cartilage, which has been denuded of conchal perichondrium, to be covered by normal septal perichondrium. The risk of perforation or graft failure is greatly reduced due to the rich blood supply of the septal mucosa, which provides nutrition to the cartilaginous surfaces. The benefits, complications, and limitations of the procedure are described. PMID:7425482

Kamer, F M

1980-04-01

229

Short QT syndrome.  

PubMed

The short QT syndrome constitutes a new clinical entity that is associated with a high incidence of sudden cardiac death, syncope, and/or atrial fibrillation even in young patients and newborns. Patients with this congenital electrical abnormality are characterized by rate-corrected QT intervals<320 ms. Missense mutations in KCNH2 (HERG) linked to a gain-of-function of the rapidly activating delayed-rectifier current I(Kr) have been identified in the first two reported families with familial sudden cardiac death. Recently, two further gain-of-function mutations in the KCNQ1 gene encoding the alpha-subunit of the KvLQT1 (I(Ks)) channel and in the KCNJ2 gene encoding the strong inwardly rectifying channel protein Kir2.1 confirmed a genetically heterogeneous disease. The possible substrate for the development of ventricular tachyarrhythmias may be a significant transmural dispersion of the repolarisation due to a heterogeneous abbreviation of the action potential duration. The implantable cardioverter defibrillator is the therapy of choice in patients with syncope and a positive family history of sudden cardiac death. However, ICD therapy in patients with a short QT syndrome has an increased risk for inappropriate shock therapies due to possible T wave oversensing. The impact of sotalol, ibutilide, flecainide, and quinidine on QT prolongation has been evaluated, but only quinidine effectively suppressed gain-of-function in I(Kr) with prolongation of the QT interval. In patients with a mutation in HERG, it rendered ventricular tachycardias/ventricular fibrillation non-inducible and restored the QT interval/heart rate relationship towards a normal range. It may serve as an adjunct to ICD therapy or as a possible alternative treatment, especially for children and newborns. PMID:15890322

Schimpf, Rainer; Wolpert, Christian; Gaita, Fiorenzo; Giustetto, Carla; Borggrefe, Martin

2005-08-15

230

Are Short GRBs Really Hard?  

SciTech Connect

Thanks to the rapid position notice and response by HETE-2 and Swift, the X-ray afterglow emissions have been found for four recent short gamma-ray bursts (GRBs; GRB 050509b, GRB 050709, GRB 050724, and GRB 050813). The positions of three out of four short GRBs are coincident with galaxies with no current or recent star formation. This discovery tightens the case for a different origin for short and long GRBs. On the other hand, from the prompt emission point of view, a short GRB shows a harder spectrum comparing to that of the long duration GRBs according to the BATSE observations. We investigate the prompt emission properties of four short GRBs observed by Swift/BAT. We found that the hardness of all four BAT short GRBs is in between the BATSE range for short and long GRBs. We will discuss the spectral properties of short GRBs including the short GRB sample of Konus-Wind and HETE-2 to understand the hard nature of the BATSE short GRBs.

Sakamoto, T.; Cummings, J. [NASA Goddard Space Flight Center (United States); Barbier, L.; Barthelmy, S.; Gehrels, N.; Parsons, A.; Tueller, J.; Cline, T. [NASA Goddard Space Flight Center (United States); Fenimore, E.; Palmer, D. [Los Alamos National Laboratory (United States); Hullinger, D. [NASA Goddard Space Flight Center (United States); University of Maryland (United States); Krimm, H.; Markwardt, C. [NASA Goddard Space Flight Center (United States); Sato, G. [Institute of Space and Astronautical Science (United States); Aptekar, R.; Golenetskii, S.; Mazets, E.; Pal'shin, V. [Ioffe Physico-Technical Institute (Russian Federation); Ricker, G. [Massachusetts Institute of Technology (United States); Lamb, D. [University of Chicago (United States)] (and others)

2006-05-19

231

The Stature of Boys Is Inversely Correlated to the Levels of Their Sertoli Cell Hormones: Do the Testes Restrain the Maturation of Boys?  

PubMed Central

The testes of preadolescent boys appear to be dormant, as they produce only trace levels of testosterone [1]. However, they release supra-adult levels of Müllerian Inhibiting Substance (MIS, anti-Müllerian hormone) and lesser levels of inhibin B (InhB), for unknown reasons [2], [3]. Boys have a variable rate of maturation, which on average is slower than girls. The height of children relative to their parents is an index of their maturity [4], [5]. We report here that a boy's level of MIS and InhB is stable over time and negatively correlates with his height and his height relative to his parent's height. This suggests that boy's with high levels of MIS and InhB are short because they are immature, rather than because they are destined to be short men. The levels of MIS and InhB in the boys did not correlate with known hormonal modulators of growth, and were additive with age and the growth hormone/IGF1 axis as predictors of a boy's height. If MIS and InhB were causal regulators of maturity, then the inter-boy differences in the levels of these hormone produces variation in maturation equivalent to 18-months of development. MIS and InhB may thus account for most of the variation in the rate of male development. If boys lacked these hormones, then an average 5-year-old boy would be over 5 cm taller than age-matched girls, making boys almost as dimorphic as men, for height. This indicates that boys have a high growth potential that is initially suppressed by their testes. The concept of the childhood testes suppressing an adult male feature appears paradoxical. However, the growth of children requires intergenerational transfer of nutrients. Consequently, the MIS/InhB slowing of male growth may have been historically advantageous, as it would minimizes any sex bias in the maternal cost of early child rearing.

Ruffman, Ted; Bilkey, David K.; McLennan, Ian S.

2011-01-01

232

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

PubMed Central

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.

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

2011-01-01

233

Short-term and long-term sequelae in intrauterine growth retardation (IUGR).  

PubMed

Intrauterine Growth Retardation (IUGR) is defined as a rate of growth of a fetus that is less than normal for the growth potential of the fetus (for that particular gestational age). Small for Gestational Age (SGA) is defined infant born following IUGR, with a weight at birth below the 10th percentile.Suboptimal fetal growth occurring in IUGR fetuses is an important cause of perinatal mortality and morbidity. The acute neonatal consequences of IUGR include metabolic and hematological disturbances, and disrupted thermoregulation; in addition, respiratory distress (RDS), necrotizing enterocolitis (NEC), and retinopathy of prematurity (ROP) may contribute to perinatal morbidity. Metabolic disturbances are related to glucose and fatty acid metabolism. It is well-known that individuals who display poor growth in utero are at significantly increased risk for type 2 diabetes mellitus (T2DM), obesity, hypertension, dyslipidemia, and insulin resistance (the so-called metabolic syndrome, MS). MS ultimately leads to the premature development of cardiovascular diseases. In addition, short stature in children and adults, premature adrenarche, and the polycystic ovarian syndrome (PCOS) are endocrinological sequelae of IUGR. (8) Early onset growth delay and prematurity significantly increase the risk for neurological sequelae and motor and cognitive delay.Future prospective studies need to investigate risk factors for infants who are SGA. If reliable prediction can be achieved, there is potential to reduce future perinatal morbidity and mortality, and long term consequences among SGA babies. PMID:23030765

Longo, Stefania; Bollani, Lina; Decembrino, Lidia; Di Comite, Amelia; Angelini, Mauro; Stronati, M

2013-02-01

234

Enhancing Discussion through Short Stories.  

ERIC Educational Resources Information Center

A teacher of English in a college-level intensive English language program describes a method for stimulating speech in high-intermediate and advanced students, using short stories. It is argued that in short stories, the themes are universal, and even shy students are willing to discuss this form of literature in class. Criteria for selecting…

Marcus, Sybil

235

Shorts due to diagnostic leads  

Microsoft Academic Search

The superconducting toroidal field coils that are being tested in the Large Coil Test Facility (LCTF) are heavily instrumented. General Electric coil, a lead wire of an internal sensor became shorted across an estimated three or four turns of the pancake winding. This short occurred during the final stages of the winding fabrication and was not accessible for repair. Resistance,

J. F. Ellis; M. S. Lubell; S. Walstrom; P. Walstrom; R. J. Thome; R. Pillsbury

1985-01-01

236

Short Stories in the Classroom.  

ERIC Educational Resources Information Center

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

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

237

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

PubMed

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

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

2012-01-01

238

New syndrome?: MCA/MR syndrome with multiple circumferential skin creases.  

PubMed

We describe a combination of multiple congenital anomalies, severe psychomotor retardation and symmetrical circumferential skin creases of arms and legs in a 4.5-year-old male. Craniofacial anomalies included: a high forehead, elongated face, bitemporal sparseness of hair, broad eyebrows, blepharophimosis, bilateral microphthalmia and microcornea, severe optic nerve hypoplasia, epicanthic folds, telecanthus, broad nasal bridge, puffy cheeks, microstomia, cleft palate, enamel hypoplasia, micrognathia, microtia with stenotic ear canals and posteriorly angulated ears. Head circumference was on the 10th centile and a CT scan showed dilated lateral ventricles. Intracranial pressure was not increased. Other abnormalities included: short stature, loose skin, hypotonia, pectus excavatum, inguinal and umbilical hernias, severe scoliosis, hypoplastic scrotum, long fingers and overlapping toes. Echocardiography showed tricuspid regurgitation. Chromosomes were apparently normal. Differentiation from "Michelin tire baby syndrome" and amniotic band sequence is discussed. PMID:8779319

Elliott, A M; Ludman, M; Teebi, A S

1996-03-01

239

Multiple neuroendocrine disorder in Salla disease.  

PubMed

Salla disease represents the slowly progressive adult form of the sialic acid storage diseases, a group of autosomal-recessive neurodegenerative disorders in which psychomotor development, ataxia, axial hypotonia, and spasticity in the lower limbs occur. No skeletal dysostosis or organomegaly is present, and life expectancy is normal. Short stature can also be observed. Progressive cerebral and cerebellar atrophy associated with dysmyelination and corpus callosum hypoplasia have been shown by magnetic resonance imaging studies. We report the first patient with Salla disease in whom combined growth hormone and gonadotropin deficiencies, hypothalamic pituitary in origin, have been demonstrated by neuroendocrine studies. We believe that the multiple neuroendocrine disorder may be the consequence of the abnormalities of common neuronal pathways regulating growth hormone and gonadotropin synthesis or secretion related to the brain storage of free sialic acid and/or to the neurodegenerative process occurring in Salla disease. Therefore, a complete endocrinologic evaluation of these patients is both warranted and useful. PMID:11669356

Grosso, S; Berardi, R; Farnetani, M A; Margollicci, M; Mancini, M G; Morgese, G; Balestri, P

2001-10-01

240

Prader-Willi syndrome.  

PubMed Central

Prader-Willi syndrome is a complex disorder affecting multiple systems with many manifestations relating to hypothalamic insufficiency. Major findings include infantile hypotonia, developmental delay and mental retardation, behaviour disorder, characteristic facial appearance, obesity, hypogonadism, and short stature. Obesity and the behavioural problems are the major causes of morbidity and mortality. Prader-Willi syndrome is caused by abnormalities of the imprinted region of proximal 15q and results from absence of the normally active paternal genes in this region. Such absence results from paternal interstitial deletion, maternal uniparental disomy, or a mutation or other abnormality in the imprinting process. Diagnostic identification of all causes has become available in recent years, permitting early detection and institution of appropriate management. This testing has permitted recent identification of some phenotypic differences among affected subjects of different race and between those with deletions and uniparental disomy as a cause. Images

Cassidy, S B

1997-01-01

241

Short-Term Presynaptic Plasticity  

PubMed Central

Different types of synapses are specialized to interpret spike trains in their own way by virtue of the complement of short-term synaptic plasticity mechanisms they possess. Numerous types of short-term, use-dependent synaptic plasticity regulate neurotransmitter release. Short-term depression is prominent after a single conditioning stimulus and recovers in seconds. Sustained presynaptic activation can result in more profound depression that recovers more slowly. An enhancement of release known as facilitation is prominent after single conditioning stimuli and lasts for hundreds of milliseconds. Finally, tetanic activation can enhance synaptic strength for tens of seconds to minutes through processes known as augmentation and posttetantic potentiation. Progress in clarifying the properties, mechanisms, and functional roles of these forms of short-term plasticity is reviewed here.

Regehr, Wade G.

2012-01-01

242

SOAP: short oligonucleotide alignment program  

Microsoft Academic Search

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

Ruiqiang Li; Yingrui Li; Karsten Kristiansen; Jun Wang

2008-01-01

243

Short implants: A systematic review  

PubMed Central

Background: Short implants are manufactured for use in atrophic regions of the jaws. Although many studies report on short implants as ?10 mm length with considerable success, the literature regarding survival rate of ?7 mm is sparse. Purpose: The purpose of this study was to systematically evaluate the publications concerning short dental implants defined as an implant with a length of ?7 mm placed in the maxilla or in the mandible. Materials and Methods: A Medline and manual search was conducted to identify studies concerning short dental implants of length ?7 mm published between 1991 and 2011. The articles included in this study report data on implant length ?7 mm, such as demographic variables, implant type, location in jaws, observation time, prostheses and complications. Results: The 28 included studies represent one randomized controlled trial, 12 prospective studies and 10 retrospective studies. The survival rate of short implant was found to be increased from 80% to 90% gradually, with recent articles showing 100%. Conclusion: When severe atrophy of jaws was encountered, short and wide implants can be placed successfully.

Karthikeyan, I.; Desai, Shrikar R.; Singh, Rika

2012-01-01

244

Short-stepping gait in severe heart failure  

Microsoft Academic Search

Background—Patients with severe chronic heart failure seem to take shorter steps than healthy controls when walking on a treadmill and when walking freely along a corridor. In healthy individuals the pattern of walking affects the oxygen cost of exercise, and so this observation might be relevant to the limitation of exercise in heart failure.Method—Length of stride was analysed as stride\\/stature

S W Davies; C A Greig; S L Jordan; D W Grieve; D P Lipkin

1992-01-01

245

No Improvement of Adult Height in Non-growth Hormone (GH) Deficient Short Children with GH Treatment  

PubMed Central

It is still in doubt whether the standard-dose growth hormone (GH) used in Japan (0.5 IU/kg/week, 0.167?mg/kg/week) for growth hormone deficiency is effective for achieving significant adult height improvement in non-growth hormone deficient (non-GHD) short children. We compared the growth of GH-treated non-GHD short children with that of untreated short children to examine the effect of standard-dose GH treatment on non-GHD short children. GH treatment with recombinant human growth hormone (rhGH) was started before the age of 11 yr in 64 boys and 76 girls with non-GHD short stature registered at the Foundation for Growth Science who have now reached their adult height. In 119 untreated boys and 127 untreated girls whose height standard deviation score (SDS) was below –2 SD at the age of 6 yr, height growth was followed until 17 yr. Height SDS was significantly lower before GH treatment in the GH-treated group than at the age of 6 yr in the untreated group, in both sexes. Adult height and adult height SDS were significantly greater in the untreated group than in the GH-treated group, in both sexes, although the change in height SDS did not differ significantly. Height SDS was significantly lower before GH treatment in the GH-treated group than at the age of 6 yr in the untreated group, so 57 boys and 57 girls whose height SDS at the age of 6 yr in the untreated group closely matched the height SDS before GH treatment in the GH-treated group were chosen for comparison. Height SDS did not differ significantly between the GH-treated group before GH treatment and the untreated group at the age of 6 yr, nor were there differences between these subgroups in adult height, adult height SDS, or height SDS change, in either sex. The effect of GH treatment is reported to be dose-dependent and doses over 0.23?mg/kg/week are reported to be necessary to improve adult height in non-GHD short children. Currently, the GH dose is fixed at 0.175?mg/kg/week in Japan, and we expected to find, and indeed concluded, that ordinary GH treatment in Japanese, non-GHD short children does not improve adult height.

Tanaka, Toshiaki; Fujieda, Kenji; Yokoya, Susumu; Shimatsu, Akira; Tachibana, Katsuhiko; Tanaka, Hiroyuki; Tanizawa, Takakuni; Teramoto, Akira; Nagai, Toshiro; Nishi, Yoshikazu; Hasegawa, Yukihiro; Hanew, Kunihiko; Fujita, Keinosuke; Horikawa, Reiko; Takada, Goro; Miyashita, Masao; Ohno, Tadashi; Komatsu, Kazuo

2006-01-01

246

Science Shorts: Going Through Changes  

NSDL National Science Digital Library

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.

Damonte, Kathleen

2004-10-01

247

Escape Velocity: A Narrative Short  

Microsoft Academic Search

This thesis book describes the development and production of Escape Velocity, a short narrative film. The writing, pre-production, shooting, and editing of the film are reviewed. Script drafts and a final budget are included in the appendices. The film concerns Larry Pipe and Percy Knuckle, best friends who dream of moving to Barbados. They hope to open a beachside bar

Joshua Trotter

2004-01-01

248

A Short Selection of Advertisements  

NSDL National Science Digital Library

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

Boersma, Stuart

249

Long Short-Term Memory  

Microsoft Academic Search

"Recurrent backprop" for learning to store information over extended time periods takestoo long. The main reason is insufficient, decaying error back flow. We describe a novel, efficient"Long Short Term Memory" (LSTM) that overcomes this and related problems. Unlikeprevious approaches, LSTM can learn to bridge arbitrary time lags by enforcing constant errorflow. Using gradient descent, LSTM explicitly learns when to store

Sepp Hochreiter; Jürgen Schmidhuber

1997-01-01

250

Debate: short-term orthodontics.  

PubMed

Debate based on an opinion article published in the British Dental Journal entitled 'Truth or consequences: the potential implications of short-term cosmetic orthodontics for general dental practitioners' by R. A. C. Chate ( 2013; 215: 551-553; www.nature.com/bdj/journal/v215/n11/full/sj.bdj.2013.1140.html). PMID:24722090

Maini, Anoop; Chate, Rob

2014-04-01

251

Short Time Force Measurement System.  

National Technical Information Service (NTIS)

The development of the SFS (Short time Force and moment measurement System) is considered. It enables measurement of aerodynamic forces and moments at testing times of less than 10 ms. This is required for measurements in high enthalpy shock tunnels to si...

J. Mertens K. Koenig

1991-01-01

252

Novel applications of short and ultra-short pulses  

Microsoft Academic Search

This paper offers recent successful examples for the application of nanosecond (ns) as well as picosecond (ps) and femtosecond (fs) laser pulses to media of gaseous, liquid or solid nature via non-linear interactions as a review, the laser ignition and dental ultra-short pulse interaction being parts of the authors’ own work. Plasma-initiated ignition of combustible gas mixtures represents a potential

M. Straßl; H. Kopecek; M. Weinrotter; A. Bäcker; A. H. Al-Janabi; V. Wieger; E. Wintner

2005-01-01

253

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

SciTech Connect

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

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

1994-09-01

254

Postfamine stature and socioeconomic status in Ireland.  

PubMed

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 Harvard 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 of father and mother's father. Correlations were also calculated between height and various historical economic indices. Significant differences in the height of Irish males were found by occupation, education, and socioeconomic status of father and maternal grandfather. Males employed in agriculture, or whose fathers or grandfathers were so employed, were significantly taller than other males. For the smaller female sample, only occupation and grandfather's socioeconomic status had a significant impact on height. An inverse correlation was also found between the British Cost of Living Index (BCL) and male heights. Our results suggest that availability of resources plays an important role in the overall nutritional status reflected in terminal adult height. PMID:18720402

Young, Kristin; Relethford, John H; Crawford, Michael H

2008-01-01

255

[Conservative femoral implants. Short stems].  

PubMed

Uncemented hip replacement matches the best results of classic cemented replacements. With the aim of preserving bone and soft tissue, implants with shorter stems and proximal metaphyseal support have been developed. Likewise, the lack of distal load should avoid cortical diaphyseal remodelling phenomena and the thigh pain of some cylindrical and wedge implants. The resurfacing implant, very popular as a conservative hip replacement in the young adult, has disadvantages associated with the fragility of the neck and with large head metal friction torque. Short stem hip replacement may be a reasonable alternative to classic implants and surface hip replacements. The different designs of conservative short stem implants are analysed, and are classified according to their morphology and biomechanical characteristics. Some medium term series show promising results. PMID:23177948

Valverde-Mordt, C; Valverde-Belda, D

2012-01-01

256

Science Shorts: Exploring Insect Vision  

NSDL National Science Digital Library

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

Damonte, Kathleen

2005-02-01

257

What Is Energy? Short Demos  

NSDL National Science Digital Library

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

Integrated Teaching And Learning Program

258

Circular short backfire antenna modeling  

Microsoft Academic Search

The first three-dimensional analysis of a short backfire antenna (SBA) is described using the vector-mode-matching method. The computation is efficient for a model that uses only the first harmonic, cos ? , and that deforms the path of numerical integration. This model is useful for SBA computer-aided designs. A larger directivity than previously reported is obtained with the aid of

Gregory P. Otto; Caicheng Lu; Weng Cho Chew

1992-01-01

259

Short-range communication system  

NASA Technical Reports Server (NTRS)

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

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

2012-01-01

260

Bicuspid aortic valve and aortic coarctation are linked to deletion of the X chromosome short arm in Turner syndrome  

PubMed Central

Background Congenital heart disease (CHD) is a cardinal feature of X chromosome monosomy, or Turner syndrome (TS). Haploinsufficiency for gene(s) located on Xp have been implicated in the short stature characteristic of the syndrome, but the chromosomal region related to the CHD phenotype has not been established. Design We used cardiac MRI to diagnose cardiovascular abnormalities in four non-mosaic karyotype groups based on 50-metaphase analyses: 45,X (n=152); 46,X,del(Xp) (n=15); 46,X,del(Xq) (n=4); and 46,X,i(Xq) (n=14) from peripheral blood cells. Results Bicuspid aortic valves (BAV) were found in 52/152 (34%) 45,X study subjects and aortic coarctation (COA) in 19/152 (12.5%). Isolated anomalous pulmonary veins (APV) were detected in 15/152 (10%) for the 45,X study group, and this defect was not correlated with the presence of BAV or COA. BAVs were present in 28.6% of subjects with Xp deletions and COA in 6.7%. APV were not found in subjects with Xp deletions. The most distal break associated with the BAV/COA trait was at cytologic band Xp11.4 and ChrX:41,500?000. One of 14 subjects (7%) with the 46,X,i(Xq) karyotype had a BAV and no cases of COA or APV were found in this group. No cardiovascular defects were found among four patients with Xq deletions. Conclusions The high prevalence of BAV and COA in subjects missing only the X chromosome short arm indicates that haploinsufficiency for Xp genes contributes to abnormal aortic valve and aortic arch development in TS.

Bondy, Carolyn; Bakalov, Vladimir K; Cheng, Clara; Olivieri, Laura; Rosing, Douglas R; Arai, Andrew E

2013-01-01

261

Recycler short kicker beam impedance  

SciTech Connect

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

Crisp, Jim; Fellenz, Brian; /Fermilab

2009-07-01

262

Ultra-short pulse generator  

DOEpatents

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

McEwan, T.E.

1993-12-28

263

Ultra-short pulse generator  

DOEpatents

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

McEwan, Thomas E. (Livermore, CA)

1993-01-01

264

Short Wavelength Laser/Materials Interactions.  

National Technical Information Service (NTIS)

This report summarizes work completed on Short Wavelength Laser/Materials Interactions. The following projects have been completed: 1)microscale lase/materials experiments using cw chemical and rp excimer laser irradiation sources, 2) studies of short wav...

M. J. Berry

1986-01-01

265

Shortness of Breath in Infants and Children  

MedlinePLUS

... flu symptoms? Yes Small children are prone to BRONCHIOLITIS, a cough with shortness of breath. BRONCHITIS and ... symptoms along with shortness of breath? Yes Occasionally, VIRAL BRONCHITIS will cause bronchial constriction just like asthma ...

266

Short Interests in Real Estate Investment Trusts  

Microsoft Academic Search

We examine short interests in equity real estate investment trusts (REITs) between 1994 and 2001. Our results show that only high levels (the 90th percentile) of short interest are associated with significant negative REIT returns as the bearish content of short interest may have been mitigated by the favorable risk characteristics of real estate securities. In addition, the significant negative

Deqing Diane Li; Kenneth Yung

2004-01-01

267

Interstitial space, electrical resistance and ion concentrations during hypotonia of rat hippocampal slices.  

PubMed Central

1. The degree to which mammalian brain cells swell in hypotonic environments has not previously been determined. We exposed hippocampal tissue slices prepared from anaesthetized rats to artificial cerebrospinal fluid from which varying amounts of NaCl had been deleted. Interstitial volume (ISV) change was determined from the volume of dilution of the marker ions tetramethylammonium (TMA+) or tetraethylammonium (TEA+). Tissue electrical resistance was measured as the voltage generated by constant current pulses. 2. ISV decreased as a function of lowered extracellular osmolality (osmotic pressure, pi o), indicating cell swelling. After reaching a minimum, ISV recovered partially, suggesting regulatory volume decrease of cells. After restoring normal pi o the ISV expanded, indicating post-hypotonic cell shrinkage. The electrical resistance of the tissue (Ro) increased when pi o was lowered, due to the reduced ionic strength, as well as restricted ISV. 3. To control for low NaCl concentration, reduced NaCl was replaced by mannitol or fructose. In isosmotic, NaCl-deficient solution, ISV showed inconsistent change, and Ro corrected for ionic strength tended to decrease. 4. Extracellular K+ concentration decreased slightly in low pi o except when spreading depression caused it to increase. Extracellular Ca2+ concentration decreased substantially, consistently and reversibly. Administration of isosmotic low-NaCl concentration solutions caused a similar decrease in extracellular Ca2+ concentrations. We propose that low Na+ concentration in extracellular fluid impaired the extrusion of Ca2+. 5. In severely hypotonic solution, ISV was reduced to 25% of its control volume, corresponding to a mean cell volume increase of at least 11%, probably more. From plotting relative changes in ISV against osmolarity we concluded that, within the range tested, hypotonic cell swelling was not opposed by the close approach of plasma membranes of neighbouring cells.

Chebabo, S R; Hester, M A; Jing, J; Aitken, P G; Somjen, G G

1995-01-01

268

Four short-period Algols  

SciTech Connect

The light curves of four close binary star systems (BV 267, RU UMi, XZ CMi, and VV UMa) have been analyzed using the Wilson-Devinney differential corrections model. The present system geometries of these binaries is that of short-period semi-detached systems with Roche-lobe-filling secondaries and main-sequence primaries. Differential coordinates in the mass-luminosity and mass-radius diagrams indicate that the secondary components lie near the main sequence, except in the case of BV 267. It is suggested that these systems are binaries with slightly overluminous and oversized secondaries which have undergone case A mass transfer. This contention is supported by timing information, and qualitatively by the period-frequency relation. These very-nearly contact binaries are likely candidates for postcontact system evolution. 34 refs.

Rafert, J.B. (Florida Institute of Technology, Melbourne (USA))

1990-10-01

269

Drop short control of electrode gap  

DOEpatents

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.

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

1986-01-01

270

Onboard Short Term Plan Viewer  

NASA Technical Reports Server (NTRS)

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

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

2011-01-01

271

MRI biosensors: a short primer.  

PubMed

Interest in MRI contrast agents for molecular imaging of biological function experienced a surge of excitement approximately 20 years ago with the development of the first activatable contrast agents that could act as biosensors and turn "on" in response to a specific biological activity. This brief tutorial, based on a short course lecture from the 2011 ISMRM meeting, provides an overview of underlying principles governing the design of biosensing contrast agents. We describe mechanisms by which an MRI contrast agent can be made into a sensor for both T1 and T2 types contrast agents. Examples of biological activities that can interact with a contrast agent are discussed using specific examples from the recent literature to illustrate the primary mechanisms of action that have been used to achieve activation. MRI sensors for pH, ion binding, enzyme cleavage, and oxidation-reduction are presented. This article is not meant to be an exhaustive review, but an illustrative primer to explain how activation can be achieved for an MRI contrast agent. Chemical exchange saturation transfer (CEST) is not covered as these agents were covered in a separate lecture. PMID:23996662

Louie, Angelique

2013-09-01

272

Short-course therapy for severe infections.  

PubMed

A short course of antimicrobial therapy should be the aim of all treatment unless otherwise indicated. Factors allowing short treatment courses are those that depend on the host, on the infection and on the agents administered. In essence, immunodeficiencies, long-standing infections, abscesses, or infections associated with foreign bodies cannot be treated with short-course therapies. Bactericidal antibiotics are the only agents suitable for short-course therapy. Many severe infections such as primary bacteraemia and bacteraemia complicating pneumonia, acute pyelonephritis and meningitis are amendable to short-course therapy, whilst others are not. The benefits of short-duration therapy are obvious and may contribute to halting resistance, reduced costs and rational patient management. PMID:23706543

Rubinstein, Ethan; Keynan, Yoav

2013-06-01

273

Short GRB Prompt and Afterglow Correlations  

NASA Technical Reports Server (NTRS)

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

Gehrels, Neil

2007-01-01

274

User's Guide Short-Term Energy Model  

EIA Publications

The personal computer version of the Energy Information Administration's (EIA) Short Term Energy Outlook, known simply as the Short-Term Energy Model, is a modeling system used to forecast future values for key energy variables. It replicates in a Windows environment most features of EIA's mainframe-based short-term modeling system, and adds capabilities that allow the user substitute assumptions to calculate alternative projections.

Information Center

1995-05-01

275

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.

276

Similarity effects in short-term memory  

Microsoft Academic Search

Reviews the literature on phonemic and semantic similarity in short-term memory and concludes that semantic encoding is readily demonstrated in short-term memory tasks, but only when the task requires it, or when slow rates of incoming information are used. To account for this feature of the data, it is proposed that the encoding of information into short-term memory is a

Harvey G. Shulman

1971-01-01

277

Water Relations of Standard Height and Dwarf Sunflower Cultivars  

Microsoft Academic Search

areas that are also characterized by water deficits. In- formation on the effects of varying stature on sunflower Development of early maturing short stature sunflower (Helian- drought response is important for adoption of short thus annuus L.) cultivars followed the success of semi-dwarf cereals. Although a number of breeding programs have recently released dwarf stature sunflower in stress prone environments

S. V. Angadi; M. H. Entz

2002-01-01

278

Genetics Home Reference: Chanarin-Dorfman syndrome  

MedlinePLUS

... storage disease with impaired long-chain fatty acid oxidation For more information about naming genetic conditions, see ... gene ; ichthyosiform ; ichthyosis ; incidence ; intestine ; involuntary ; lipid ; nystagmus ; oxidation ; protein ; recessive ; short stature ; stature ; syndrome ; triglycerides You ...

279

Genetics Home Reference: Pitt-Hopkins syndrome  

MedlinePLUS

... may have an unusually small penis or undescended testes (cryptorchidism). How common is Pitt-Hopkins syndrome? Pitt- ... reproductive cells ; short stature ; sperm ; stature ; strabismus ; syndrome ; testes ; transcription ; transcription factor You may find definitions for ...

280

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

MedlinePLUS

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

281

Genetics Home Reference: Multiple lentigines syndrome  

MedlinePLUS

... is caused by abnormalities in the inner ear (sensorineural deafness) and can be present from birth or ... ocular hypertelorism ; protein ; ptosis ; puberty ; pulmonary ; pulmonary stenosis ; sensorineural ; short stature ; sign ; stature ; stenosis ; syndrome ; testes ; tissue ; ...

282

Efficacy and Safety of Up to 8 Years of Long-term Growth Hormone Treatment in Short Children Born Small for Gestational Age in Japan: Analysis of the Subpopulation According to the Japanese Guideline  

PubMed Central

The efficacy and safety of 8 yr of GH treatment was assessed in 44 Japanese children with small for gestational age (SGA) short stature who met the criteria for GH treatment initiation (height SD score (SDS) <–2.5 SD) of the Japanese guidelines. Height SDS in subjects improved throughout the study period, and average height SDS improved from –3.5 to –1.6 and from –3.4 to –1.9 in the 0.033/0.067 mg and 0.067/0.067 mg groups, respectively, after 8 yr of GH treatment. Delta height SD was approximately +2 after 4 yr of treatment, and ? IGF-1 showed a significant positive correlation with ? height SD after both 1 and 2 yr (r = 0.415 and 0.488, respectively) of treatment. There was no correlation between the age at the start of treatment and age at onset of puberty, and the median age at the onset of puberty in the subjects was almost the same as that in healthy children. In conclusion, clinically significant improvements in the height SDS was confirmed in short children born SGA after 8 yr of GH treatment without any safety problems.

Tanaka, Toshiaki; Yokoya, Susumu; Fujieda, Kenji; Seino, Yoshiki; Tada, Hiroshi; Mishina, Jun; Saito, Susumu; Takata, Ami; Ohki, Nobuhiko

2012-01-01

283

Teaching Literature to Adolescents: Short Stories.  

ERIC Educational Resources Information Center

Intended for teachers-to-be at the undergraduate level as well as for teachers with experience, this book presents the premise that the short story--with its appropriate length and natural interest for students--is a unique teaching vehicle. Five parts comprise the volume: Part 1 discusses four teaching principles illustrated by actual short

Dunning, Stephen

284

Short-pulse laser materials processing  

Microsoft Academic Search

The goal of this project was to develop, through experiments and modeling, a better understanding of the physics issues and machining techniques related to short-pulse laser materials processing. Although we have successfully demonstrated many types of cuts in a wide range of materials, our general short-pulse machiing scientific knowledge and our ability to model the complex physical processes involved are

P S Banks; M D Feit; A Komashko; M D Perry; A M Rubenchik; M Shirk; B C Stuart

1999-01-01

285

Short wavelength laser\\/materials interactions  

Microsoft Academic Search

This report summarizes work completed on Short Wavelength Laser\\/Materials Interactions. The following projects have been completed: (1) microscale laser\\/materials experiments using CW chemical and rp excimer laser irradiation sources; (2) studies of short wavelength interaction phenomenology and effects; (3) development and use of laser probe attenuation and absorption systems for measurements on laser ablated plumes; (4) quadrupole mass spectrometric studies

Michael J. Berry

1986-01-01

286

Research on the short backfire antenna  

Microsoft Academic Search

A method of analysing the short backfire antenna is proposed. With this method, a new type backfire antenna is developed.\\u000a Its gain is about 2.5dB higher than that of a normal short backfire antenna.

Lin Changlu; Song Ximing

1984-01-01

287

The research on short backfire antenna  

Microsoft Academic Search

A method to analyze the short backfire antenna was presented. The method interpreted the working principle of the backfire antenna relatively well. The gain of a backfire antenna developed by this method was approximately 2.5 dB higher than that of an ordinary short backfire antenna.

C. L. Lin; X. M. Song

1983-01-01

288

Biomass estimation procedures in short rotation forestry  

Microsoft Academic Search

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

Theo Verwijst; Björn Telenius

1999-01-01

289

MMPI Short Forms: Caution and a Reply.  

ERIC Educational Resources Information Center

Results indicate that short forms of the Minnesota Multiphasic Personality Inventory may not be accurate substitutes for the standard form in predicting objective measures of psychopathology. Newmark et al, however, reassert their findings that short forms are indeed accurate substitutes. (Author/BEF)

Butcher, James N.; And Others

1980-01-01

290

Register of Validated Short Dietary Assessment Instruments  

Cancer.gov

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

291

Similarity Effects in Short-Term Memory.  

National Technical Information Service (NTIS)

The nature of similarity effects in short-term memory has been a focal point of investigations that attempt to discover fundamental similarities or differences between short-term memory and long-term memory. A conclusion common to many of these experiment...

H. G. Shulman

1969-01-01

292

Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency  

Microsoft Academic Search

Two HLA-identical twin sisters are reported, of whom one has remained essentially asymptomatic, and an episode of hypotonia and decreased level of conciousness being\\u000a the only relevant clinical finding in the other. Organic acid analysis revealed that ethylmalonate was constantly, although\\u000a sometimes only slightly, increased. No abnormal acylglycines or acylcarnitines could be detected. Enzyme assay in cultured\\u000a skin fibroblasts confirmed

A. Ribes; E. Riudor; B. Garavaglia; G. Martinez; A. Arranz; F. Invernizzi; P. Briones; E. Lamantea; M. Sentís; A. Barceló; M. Roig

1998-01-01

293

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

Microsoft Academic Search

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

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

1999-01-01

294

PRECURSORS OF SHORT GAMMA-RAY BURSTS  

SciTech Connect

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

Troja, E.; Gehrels, N. [NASA, Goddard Space Flight Center, Greenbelt, MD 20771 (United States); Rosswog, S. [School of Engineering and Science, Jacobs University Bremen, Campus Ring 1, 28759 Bremen (Germany)

2010-11-10

295

High current short pulse ion sources  

SciTech Connect

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

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

1996-08-01

296

Electrochemical microstructuring with short voltage pulses.  

PubMed

The application of short (nanosecond) voltage pulses between a tool electrode and a work piece immersed in an electrolyte solution allows the three-dimensional machining of electrochemically active materials with submicrometer resolution. The method is based on the finite charging time constant of the double-layer capacitance, which varies approximately linearly with the local separation between the electrode surfaces. Hence, the polarization of the electrodes during short pulses and subsequent electrochemical reactions are confined to regions where the electrodes are in sufficiently close proximity. This Minireview describes the principles behind electrochemical micro-structuring with short voltage pulses, and its current achievements and limitations. PMID:17111455

Schuster, Rolf

2007-01-01

297

Retrospective Search on Short Rotation Forestry.  

National Technical Information Service (NTIS)

Centers of work on short rotation forestry are listed. This annotated bibliography covers the following: energy from wood, land availability, energy from wood residues, electricity from wood, premium wastes usage, and methods and boilers. Abstracts are in...

1977-01-01

298

SSC 40 mm short model construction experience.  

National Technical Information Service (NTIS)

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...

R. C. Bossert J. S. Brandt J. A. Carson C. E. Dickey I. Gonczy

1990-01-01

299

Online Short Course: The Solar System  

NSDL National Science Digital Library

Eager to learn beyond your Earthly boundaries? Join us for the new NSTA Online Short Course: The Solar System . The focus of this course will be how the solar system and its bodies are formed. During this course, particular emp

1900-01-01

300

Online Courses: NSTA Online Short Course: Energy  

NSDL National Science Digital Library

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

1900-01-01

301

Short-Circuited Fluxgate Output Current.  

National Technical Information Service (NTIS)

The alternative coupling of short-circuiting a fluxgate sensor secondary coil by connecting it to the inverting input of a current amplifier is shown to have significant advantages over the more conventional unloaded or second harmonic tuned voltage coupl...

F. Primdahl J. R. Petersen C. Olin K. H. Andersen

1988-01-01

302

Spectra of short, locked magnetron pulses  

Microsoft Academic Search

A theoretical explanation is given for the observed difference between the frequency at which the peak of the spectrum of a train of short, locked magnetron pulses occurs and the frequency of the CW locking signal.

B. Vyse; J. M. Gissing

1971-01-01

303

Short Duration Base Heating Test Improvements.  

National Technical Information Service (NTIS)

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 inc...

R. L. Bender M. G. Dagostino B. A. Engel C. D. Engel

1999-01-01

304

18 CFR 415.1 - Short title.  

Code of Federal Regulations, 2013 CFR

... 2012-04-01 true 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...

2013-04-01

305

Thermoelastic Response to a Short Laser Pulse.  

National Technical Information Service (NTIS)

The authors consider a one-dimensional model of the thermoelastic response to laser heating by a pulse of very short duration. They treat the linear equations of thermoelasticity by perturbation methods using the pulse duration as the perturbation paramet...

J. C. Strikwerda, A. M. Scott

1982-01-01

306

Short wavelength laser/materials interactions  

NASA Astrophysics Data System (ADS)

This report summarizes work completed on Short Wavelength Laser/Materials Interactions. The following projects have been completed: (1) microscale laser/materials experiments using CW chemical and rp excimer laser irradiation sources; (2) studies of short wavelength interaction phenomenology and effects; (3) development and use of laser probe attenuation and absorption systems for measurements on laser ablated plumes; (4) quadrupole mass spectrometric studies of laser pyrolysis products; and (5) laser hardened materials evaluations.

Berry, Michael J.

1986-11-01

307

Short backfire antenna for Doppler sensing  

Microsoft Academic Search

The design of a circular short backfire antenna fed from a standard X-band waveguide (WR 90\\/WG 16) for use at 10.5 GHz is described. Waveguide-fed short backfire antennas have the advantage of high gain per unit length. The designs discussed here have 2(lambda)-diameter circular apertures and a best gain figure of 14.5 dB with an overall length of the dielectric

A. G. Martin

1981-01-01

308

Short QT Syndrome in a Pediatric Patient  

Microsoft Academic Search

Short QT syndrome (SQTS) is a recently described genetic syndrome characterized by abnormally brisk ventricular repolarization.\\u000a Similar to long QT syndrome, SQTS might result in ventricular arrhythmias, syncope, and sudden death. The clinical diagnosis\\u000a of SQTS is supported by the finding of an abnormally short QT interval on the resting electrocardiogram in combination with\\u000a a suggestive clinical or family history.

Juan Villafane; Ming Lon Young; Philippe Maury; Christian Wolpert; Olli Anttonen; Robert Hamilton; Prince J. Kannankeril; Peter S. Fischbach

2009-01-01

309

Analysis of Short Circuits for Distribution Systems  

Microsoft Academic Search

This paper presents a discussion and analysis of short circuits for low-voltage distribution systems. Many distribution systems are supplied from transformers connected in delta on the low-voltage side with the mid-tap of one secondary winding, or with one corner of the delta, connected to ground. As a result, short circuits on these systems often involve failure to ground, and an

Charles F. Dalziel

1942-01-01

310

Short Telomeres Compromise ?-Cell Signaling and Survival  

PubMed Central

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.

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

2011-01-01

311

Crystallizing short-read assemblies around seeds  

PubMed Central

Background New short-read sequencing technologies produce enormous volumes of 25–30 base paired-end reads. The resulting reads have vastly different characteristics than produced by Sanger sequencing, and require different approaches than the previous generation of sequence assemblers. In this paper, we present a short-read de novo assembler particularly targeted at the new ABI SOLiD sequencing technology. Results This paper presents what we believe to be the first de novo sequence assembly results on real data from the emerging SOLiD platform, introduced by Applied Biosystems. Our assembler SHORTY augments short-paired reads using a trivially small number (5 – 10) of seeds of length 300 – 500 bp. These seeds enable us to produce significant assemblies using short-read coverage no more than 100×, which can be obtained in a single run of these high-capacity sequencers. SHORTY exploits two ideas which we believe to be of interest to the short-read assembly community: (1) using single seed reads to crystallize assemblies, and (2) estimating intercontig distances accurately from multiple spanning paired-end reads. Conclusion We demonstrate effective assemblies (N50 contig sizes ~40 kb) of three different bacterial species using simulated SOLiD data. Sequencing artifacts limit our performance on real data, however our results on this data are substantially better than those achieved by competing assemblers.

Hossain, Mohammad Sajjad; Azimi, Navid; Skiena, Steven

2009-01-01

312

40 CFR 86.1427 - Certification Short Test procedure; overview.  

Code of Federal Regulations, 2013 CFR

...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...

2013-07-01

313

The origin of short-period comets  

SciTech Connect

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

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

1990-07-01

314

The short stem: promises and pitfalls.  

PubMed

Conventional uncemented femoral implants provide dependable long-term fixation in patients with a wide range of functional requirements. Yet challenges associated with proximal-distal femoral dimensional mismatch, preservation of bone stock, and minimally invasive approaches have led to exploration into alternative implant designs. Short stem designs focusing on a stable metaphyseal fit have emerged to address these issues in total hip replacement (THR). Uncemented metaphyseal-engaging short stem implants are stable and are associated with proximal bone remodeling closer to the metaphysis when compared with conventional stems and they also have comparable clinical performances. Short stem metaphyseal-engaging implants can meet the goals of a successful THR, including tolerating a high level of patient function, as well as durable fixation. PMID:24187354

Stulberg, S D; Patel, R M

2013-11-01

315

Short-term energy outlook: Methodology  

NASA Astrophysics Data System (ADS)

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.

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

316

A perspective on short-haul STOL  

NASA Technical Reports Server (NTRS)

Discussion of the basic incentives motivating the development of the short-haul STOL air transportation system. The technological impact on the aircraft and its related economics required to achieve short field performance is generally detrimental. Considerations such as wing and empennage sizing, engine thrust sizing and cycle selection, thrust reverser requirements, cruise Mach number effects, noise, and fuel usage impacts are discussed. The direct operating economics are adversely affected, although it is thought that the indirect costs can be correspondingly reduced. A study of the total operating costs of the short-haul system and its related fare structure indicates that a definite potential exists for the evolution of an economically viable system yielding positive returns on investment to the operators. It is concluded that this potential is sufficient to warrant more detailed studies of these economics and the alternative implementation schemes.

Malthan, L. V.

1974-01-01

317

libgapmis: extending short-read alignments  

PubMed Central

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.

2013-01-01

318

Undulators for short wavelength FEL amplifiers  

SciTech Connect

Issues critical to the design of undulators for use in short wavelength FEL amplifiers, such as attainable on-axis field strength, device compactness, field quality, required magnetic gap, and strong focusing schemes, are discussed. The relative strength of various undulator technologies, including pure permanent magnet, hybrid, warm electromagnetic, pulsed, and superconducting electromagnetic devices in both helical and planar configurations are reviewed. Favored design options for proposed short wavelength FELs, such as the Linac Coherent Light Source at SLAC and the DUV Free-Electron Laser at BNL, are presented.

Schlueter, R.D.

1994-12-01

319

Undulators for short wavelength FEL amplifiers  

SciTech Connect

Issues critical to the design of undulators for use in short wavelength FEL amplifiers, such as attainable on-axis field strength, device compactness, field quality, required magnetic gap, and strong focusing schemes, are discussed. The relative strength of various undulator technologies, including pure permanent magnet, hybrid, warm electromagnetic, pulsed, and superconducting electromagnetic devices in both helical and planar configurations are reviewed. Favored design options for proposed short wavelength FELs, such as the Linac Coherent Light Source at SLAC and the DUV Free-Electron Laser at BNL, are presented.

Schlueter, R. [Lawrence Berkeley Lab., CA (United States). Accelerator and Fusion Research Div.

1994-08-01

320

Catalysts for synthesizing various short chain hydrocarbons  

DOEpatents

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

Colmenares, Carlos (Alamo, CA)

1991-01-01

321

Shorting pipeline and jacket cathodic protection systems  

SciTech Connect

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

Thomason, W.H. (Conoco Inc., Ponca City, OK (United States)); Evans, S. (Conoco Inc., Houston, TX (United States)); Rippon, I.J. (Conoco Ltd., Aberdeen (United Kingdom)); Maurin, A.E. III (Conoco Inc., Lafayette, LA (United States))

1993-09-01

322

Theoretical models of synaptic short term plasticity  

PubMed Central

Short term plasticity is a highly abundant form of rapid, activity-dependent modulation of synaptic efficacy. A shared set of mechanisms can cause both depression and enhancement of the postsynaptic response at different synapses, with important consequences for information processing. Mathematical models have been extensively used to study the mechanisms and roles of short term plasticity. This review provides an overview of existing models and their biological basis, and of their main properties. Special attention will be given to slow processes such as calcium channel inactivation and the effect of activation of presynaptic autoreceptors.

Hennig, Matthias H.

2013-01-01

323

Quantum Monte Carlo with short directed loops  

NASA Astrophysics Data System (ADS)

We introduce a new type of directed loop algorithm with short-loop generation for the stochastic series expansion quantum Monte Carlo method[1]. Short-loop algorithms have been shown to greatly improve the dynamics at low temperature in studies of classical spin ice models[2]. We will discuss the framework of this algorithm and make comparisons to the conventional directed loop algorithm in a specific quantum spin model. [1]O.Suljuasen and A. W. Sandvik, Phys. Rev. E66, 046701 (2002). [2]R. Melko et al., Phys. Rev. Lett. 87, 067203 (2001).

Kao, Ying-Jer

2007-03-01

324

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

Microsoft Academic Search

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

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

2000-01-01

325

Development of Short and Very Short Forms of the Children's Behavior Questionnaire  

Microsoft Academic Search

Using data from 468 parents and taking into account internal consistency, breadth of item con- tent, within-scale factor analysis, and patterns of missing data, we developed short (94 items, 15 scales) and very short (36 items, 3 broad scales) forms of the Children's Behavior Question- naire (CBQ; Rothbart, Ahadi, & Hershey, 1994; Rothbart, Ahadi, Hershey, & Fisher, 2001), a well-established

Samuel P. Putnam; Mary K. Rothbart

2006-01-01

326

Test Length and Decision Quality in Personnel Selection: When Is Short Too Short?  

ERIC Educational Resources Information Center

Personnel selection shows an enduring need for short stand-alone tests consisting of, say, 5 to 15 items. Despite their efficiency, short tests are more vulnerable to measurement error than longer test versions. Consequently, the question arises to what extent reducing test length deteriorates decision quality due to increased impact of…

Kruyen, Peter M.; Emons, Wilco H. M.; Sijtsma, Klaas

2012-01-01

327

Short Reference Years - Test Reference Years.  

National Technical Information Service (NTIS)

A Test Reference Year (TRY) is a collection of hourly weather data for a specific location and for 365 days arranged as 8760 sets of simultaneous weather parameters. A Short Reference Year (SRY) is correspondingly a similar collection of data for less tha...

H. Lund

1984-01-01

328

Survey of plant short tandem DNA repeats  

Microsoft Academic Search

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

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

1994-01-01

329

Short failure analysis under fault isolation  

Microsoft Academic Search

Scanning superconducting quantum interference device (SQUID) microscopy, along with real time X-ray (RTX) microscopy and scanning acoustic microscopy (SAM), was used as a fault isolation tool for IC short circuit failure analysis. Fault isolation was carried out before physical analysis. Experimental procedures and results for both fault isolation and physical analysis are given in detail

Z. H. Mai; M. Palaniappan; J. M. Chin; C. E. Soh; L. A. Knauss; E. F. Fleet

2001-01-01

330

A Short History of Three Chemical Shifts  

ERIC Educational Resources Information Center

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

Nagaoka, Shin-ichi

2007-01-01

331

Variable Diameter Short Haul Civil Tiltrotor.  

National Technical Information Service (NTIS)

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 a...

J. M. Wang C. R. Jones M. W. Nixon

2004-01-01

332

Self-Organized Short-Term Memories  

Microsoft Academic Search

We report short-term memory formation in a nonlinear dynamical system with many degrees of freedom. The system ``remembers'' a sequence of impulses for a transient period, but it coarsens and eventually ``forgets'' nearly all of them. The memory duration increases as the number of degrees of freedom in the system increases. We demonstrate the existence of these transient memories in

S. N. Coppersmith; T. C. Jones; L. P. Kadanoff; A. Levine; J. P. McCarten; S. R. Nagel; S. C. Venkataramani; Xinlei Wu

1997-01-01

333

Short Sheffer axiom for Boolean algebra.  

National Technical Information Service (NTIS)

A short Sheffer stroke identity is shown to be a single axiom for Boolean algebra. The axiom has length 15 and 3 variables. The proof shows that it is equivalent to Sheffer's original 3-basis for the theory. Automated deduction techniques were used to fin...

R. Veroff W. McCune

2000-01-01

334

GSFC short pulse radar, JONSWAP-75  

NASA Technical Reports Server (NTRS)

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

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

1977-01-01

335

T-expansion - a short review  

SciTech Connect

The t-expansion is a nonperturbative calculational tool recently developed for Hamiltonian systems. A short review of the method is given. It is followed by a summary of applications to two dimensional spin systems and to four dimensional non-abelian lattice gauge theories. 5 refs., 3 figs.

Karliner, M.

1985-09-01

336

New short backfire antennas for wireless applications  

Microsoft Academic Search

A low-cost wideband short backfire antenna (SBA) and a circularly polarized (CP) SBA are presented. The low-cost SBA designed for the 5 GHz UNII band is excited by a planar monopole which is printed on a dielectric substrate and fed by a microstrip line. By splitting the printed monopole with a slot, wideband performance is achieved. It is demonstrated that

D. C. Thompson; R. L. Li; J. Papapolymerou; J. Laskar; M. M. Tentzeris

2005-01-01

337

Q-Band Short Backfire Antenna Arrays  

Microsoft Academic Search

This paper presents experimental results at Q-band for a waveguide-excited short backfire antenna. Two examples of the application of such a highly efficient radiator as elements in antenna arrays are given. It is shown that the use of quarter wavelength slots on the common main reflector rim of the array leads to substantial improvement in the directive gain and sidelobe

P. S. Kooi; M. S. Leong

1980-01-01

338

Q-band short backfire antenna arrays  

Microsoft Academic Search

This paper presents experimental results at Q-band for a waveguide-excited short backfire antenna. Two examples of the application of such a highly efficient radiator as elements in antenna arrays are given. It is shown that the use of quarter wavelength slots on the common main reflector rim of the array leads to substantial improvement in the directive gain and sidelobe

P. S. Kooi; M. S. Leong

1981-01-01

339

Laminates Reinforced By Short Transverse Rods  

NASA Technical Reports Server (NTRS)

Short transverse rods incorporated into laminated composite panels to increase interlaminar strengths of panels, according to proposal. Rods help panels resist delamination caused by impacts from dropped tools or, in vehicles, by debris. Inserted into selected individual internal layers during preimpregnation.

Farley, Gary L.

1993-01-01

340

One method of profiling short plane nozzles  

Microsoft Academic Search

One of the possible methods is considered for profiling short plane nozzles for aerodynamic tubes. The nozzle has a straight sonic line, which allows the subsonic and supersonic sections to be constructed separately. The problem is solved numerically in the plane of a hodograph. In the subsonic region, Dirichlet's problem is formulated for Chaplygin's equation in a rectangle, one side

N. A. Podsypanina; É. G. Shifrin

1975-01-01

341

Plasma Diagnostics with Short Electromagnetic Pulses  

Microsoft Academic Search

The propagation of short electromagnetic pulses in an ionized medium and the reflection of transient pulses from bounded ionized regions is discussed. Analytical expressions for transient oscillations in reflected and propagated electromagnetic fields excited by a unidirectional pulse are derived for certain simple cases. The transient oscillations show a periodicity which is directly related to the plasma frequency and are

Hans J. Schmitt

1964-01-01

342

Longitudinal Mode Acoustic Losses in Short Nozzles.  

National Technical Information Service (NTIS)

The report is a professional treatise concerning acoustic damping by a 'short nozzle'. It is for the most part not original but is written in such a manner that it can be read by an engineer without need to resort to the plethora of more sophisticated ana...

B. T. Zinn

1971-01-01

343

Intestinal failure and short bowel syndrome  

Microsoft Academic Search

Intestinal failure is usefully defined from a reduction of intestinal function such that ordinary fluids and nutrients given by mouth are insufficient, and that artificial support by the enteral or parenteral route is needed to maintain health. Intestinal failure usually follows major resection (e.g. in short bowel syndrome [SBS]), but also occurs when the intact intestine is unable to function

Alastair Forbes

2011-01-01

344

Nonperturbative short-range dynamics in TMDs  

SciTech Connect

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

Weiss, Christian [JLAB

2013-05-01

345

Online Short Course: Earth, Sun, and Moon  

NSDL National Science Digital Library

Care to take a different view? Join us for the new NSTA Online Short Course: Earth, Sun and Moon. This course explores the phenomena that can be explained by the position and motion of Earth, the Moon, and the Sun. The focus is on topics supporting Standa

1900-01-01

346

Online Short Course: Earth, Sun, and Moon  

NSDL National Science Digital Library

Care to take a different view? Join us for the new NSTA Online Short Course: Earth, Sun and Moon . This course explores the phenomena that can be explained by the position and motion of Earth, the Moon, and the Sun. The focus i

1900-01-01

347

Shorted Microstrip Patch Antenna with Parasitic Element  

Microsoft Academic Search

This paper describes a small microstrip antenna that operates at 2.45 GHz which is the frequency band for wireless applications such as WiFi and Bluetooth. Two techniques of enhancing the performance of the conventional patch antenna, which are shorting pins and parasitic element, were studied. The results are obtained through simulation and measurement. Additional slots were included to further enhance

A. M. M. Dahlan; M. R. Kamarudin

2010-01-01

348

Short Cuts in Printed-Circuit Wiring  

Microsoft Academic Search

The purpose of this paper is to illustrate the responsibilities of product engineering and design in evolving printed wire products. The short cuts are the results of planning with maximum standardization. The products to be used for illustration are 23 servo-amplifier designs used in military airborne equipment. The quantity of amplifiers to be produced is not large and might be

Robert Ost

1957-01-01

349

Short Wave Echoes and the Aurora Borealis  

Microsoft Academic Search

ON Feb. 29 of this year I received a letter from Engineer Jørgen Hals, Bygdø, Oslo, in which he says: ``I herewith have the honour to advise you that at the end of the summer 1927 I repeatedly heard signals from the Dutch short-wave transmitter station PCJJ (Eindhoven). At the same time as I heard the telegraph-signals I also heard

Carl Størmer

1928-01-01

350

Small, Short Duration Technical Team Dynamics.  

National Technical Information Service (NTIS)

How to build effective teams is one of the most significant management questions of the day. Small, short duration technical teams drive critically important decision-making processes in a broad range of organizations in all sectors of the economy. Thus, ...

P. J. Knight

2006-01-01

351

Short-timescale variability in cataclysmic binaries  

SciTech Connect

Rapid variability, including flickering and pulsations, has been detected in cataclysmic binaries at optical and x-ray frequencies. In the case of the novalike variable TT Arietis, simultaneous observations reveal that the x-ray and optical flickering activity is strongly correlated, while short period pulsations are observed that occur at the same frequencies in both wavelength bands.

Cordova, F.A.; Mason, K.O.

1982-01-01

352

A Short-Term Psychiatric Unit  

Microsoft Academic Search

Program, philosophy, and treatment assumptions of the Diagnostic and Short-Term Treatment Unit (STU) at The Sheppard and Enoch Pratt Hospital (SEPH) are presented. The STU's pragmatic, behaviorally oriented treatment philosophy is illustrated with clinical vignettes. Patient education, self-reliance in the face of dependency, and directness are stressed.

Bruce Leopold

1987-01-01

353

Is the Atomic Second too short?  

Microsoft Academic Search

The definition of the length of the Atomic Second is based on measurements of the Earth's rotation made during the past 300 years. It has become too short because of the long-term deceleration of the Earth's rotation, making it necessary to add more and more leap seconds to UTC. By defining a longer Atomic Second and enlarging the limit of

Ci-yuan Liu

2001-01-01

354

Electricity and short wavelength radiation generator  

DOEpatents

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.

George, E.V.

1985-08-26

355

Short-term memory for motor responses  

Microsoft Academic Search

2 experiments were conducted on short-term memory for simple linear, graded motor responses, with length of retention interval and number of practice repetitions or reinforcements as basic variables. Absolute error was the primary performance measure. Both experiments found error to be an increasing function of retention interval. Number of reinforcements was a significant variable only for the wider range of

Jack A. Adams; Sanne Dijkstra

1966-01-01

356

AUTOMATED EVALUATION OF ESSAYS AND SHORT ANSWERS  

Microsoft Academic Search

Abstract Essay questions designed to measure writing ability, along with open - ended questions requiring short answers, are highly - valued components of effective assessment programs, but the expense and logistics of scoring them reliably often present a barrier to their use Extensive research and development efforts at Educational Testing Service (ETS) over the past several years (see http:\\/\\/www ets

Jill Burstein; Claudia Leacock; Richard Swartz

2001-01-01

357

Blacks in Pop Music: A Short Story.  

ERIC Educational Resources Information Center

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

Rickelman, Melinda

1991-01-01

358

Short Signature Scheme From Bilinear Pairings.  

National Technical Information Service (NTIS)

The first short signature scheme is proposed by Boneh, Lynn, and Shacham (BLS). This scheme uses the properties of bilinear pairings on certain elliptic curves. The main problem in BLS scheme is the use of special hash function. To deal with this problem,...

B. B. Kirlar O. Sever S. Akleylek Z. Yuce

2010-01-01

359

MLL2 and KDM6A mutations in patients with Kabuki syndrome.  

PubMed

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

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

2013-09-01

360

Recombinant insulin-like growth factor (IGF)-I treatment in short children with low IGF-I levels: first-year results from a randomized clinical trial.  

PubMed

Context: Short stature in children may be associated with low IGF-I despite normal stimulated GH levels and without other causes. Objective: Our objective was to assess the safety and efficacy of recombinant human IGF-I (rhIGF-I) in short children with low IGF-I levels. Design: This was a 1-yr, randomized, open-label trial (MS301). Setting: The study was conducted at 30 U.S. pediatric endocrinology clinics. Subjects: A total of 136 short, prepubertal subjects with low IGF-I (height and IGF-I sd scores <-2, stimulated GH > or =7 ng/ml); 124 completed the study, and six withdrew for adverse events and six for other reasons. Intervention: rhIGF-I was administered sc, twice daily using weight-based dosing (40, 80, or 120 microg/kg; n = 111) or subjects were observed (n = 25). Main Outcome Measures: First-year height velocity (centimeters per year, cm/yr), height sd score, IGF-I, and adverse events were prespecified outcomes. Results: First-year height velocities for subjects completing the trial were increased for the 80- and 120-microg/kg twice-daily vs. the untreated group (7.0 +/- 1.0, 7.9 +/- 1.4, and 5.2 +/- 1.0 cm/yr, respectively; all P < 0.0001) and for the 120- vs. 80-microg/kg group (P = 0.0002) and were inversely related to age. They were not predicted by GH stimulation or IGF-I generation test results and were not correlated with IGF-I antibody status. The most commonly reported adverse events of special interest during treatment were headache (38% of subjects), vomiting (25%), and hypoglycemia (14%). Conclusions: rhIGF-I treatment was associated with age- and dose-dependent increases in first-year height velocity. Adverse events during treatment were less common than in previous studies and were generally transient, easily managed, and without known sequelae. PMID:19880790

Midyett, L Kurt; Rogol, Alan D; Van Meter, Quentin L; Frane, James; Bright, George M

2010-02-01

361

Writing and overwriting short-term memory  

PubMed Central

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.

Killeen, Peter R.

2008-01-01

362

The QT syndromes: long and short.  

PubMed

This Seminar presents the most recent information about the congenital long and short QT syndromes, emphasising the varied genotype-phenotype association in the ten different long QT syndromes and the five different short QT syndromes. Although uncommon, these syndromes serve as a Rosetta stone for the understanding of inherited ion-channel disorders leading to life-threatening cardiac arrhythmias. Ionic abnormal changes mainly affecting K(+), Na(+), or Ca(2+) currents, which either prolong or shorten ventricular repolarisation, can create a substrate of electrophysiological heterogeneity that predisposes to the development of ventricular tachyarrhythmias and sudden death. The understanding of the genetic basis of the syndromes is hoped to lead to genetic therapy that can restore repolarisation. Presently, symptomatic individuals are generally best treated with an implantable cardioverter defibrillator. Clinicians should be aware of these syndromes and realise that drugs, ischaemia, exercise, and emotions can precipitate sudden death in susceptible individuals. PMID:18761222

Morita, Hiroshi; Wu, Jiashin; Zipes, Douglas P

2008-08-30

363

Morphological study of short gamma ray bursts  

NASA Astrophysics Data System (ADS)

Gamma Ray Bursts (GRB) of duration less than about 2 s, detected by the Burst and Transient Source Experiment (BATSE) on board the Compton Gamma Ray Observatory have been selected for temporal analysis. These bursts constitute nearly 25% of the total and presumably form a separate class. Several parameters to describe the complexity and rapidity based on the burst temporal structure are derived and their dependence on other temporal and spectral properties are explored. A parameter is derived for each burst to characterize its spectral evolution based on its light curves in 4 energy channels. Bursts detected during April 1991 and March 1993 have been analysed yielding a sample size of 51 bursts. It has been found that the burst complexity is independent of its spectral content. The spectral evolution of short bursts is same as that of longer bursts. Also a systematic search for a coherent emission of ?-rays in short bursts yielded a negative result.

Bhat, P. N.; Fishman, G. J.; Meegan, C. A.; Wilson, R. B.; Paciesas, W. S.

1996-08-01

364

Short bunch research at Brookhaven National Laboratory  

SciTech Connect

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

Blum, E.B.

1995-12-31

365

Short pulse free electron laser amplifier  

DOEpatents

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.

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

1985-01-01

366

Short-Range Nucleon-Nucleon Correlations  

NASA Astrophysics Data System (ADS)

Valence-shell nucleon knock-out experiments, such as 12C(e,e'p)11B, measure less strength then is predicted by independent particle shell model calculations. The theoretical solution to this problem is to include the correlations between the nucleons in the nucleus in the calculations. Motivated by these results, many electron scattering experiments have tried to isolate the signal from these correlations in order to gain new insight into the short-range part of the nucleon-nucleon potential. Unfortunately, many competing mechanisms can cause the same observable final-state as an initial-state correlation, making truly isolating the signal extremely challenging. This paper reviews the recent experimental evidence for short-range correlations, as well as explores the possibility that such correlations are responsible for the EMC effect in the 0.3

Higinbotham, Douglas W.

2011-10-01

367

Short time cycles of purely quantum refrigerators.  

PubMed

Four stroke Otto refrigerator cycles with no classical analog are studied. Extremely short cycle times with respect to the internal timescale 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 states of the working medium possess 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. PMID:23004710

Feldmann, Tova; Kosloff, Ronnie

2012-05-01

368

Familial short fifth metacarpals and insulin resistance.  

PubMed

Very few reports on the phenotype of short fifth metacarpals have been published in the medical literature. We report a Jordanian family in which three sisters aged 15, 13 and 8 years revealed bilateral shortening of the fifth fingers and radiological shortening of the fifth metacarpals. The father had unilateral short fifth metacarpal. The elder two sisters, their father as well as their brother and another sister manifested insulin resistance. Spherocytosis was diagnosed in one of the girls and her father. The parents are non-consanguineous. This constellation of findings has not been previously reported and could point to the presence of two disorders segregating in the family or to a novel syndrome with autosomal dominant inheritance and variable expressivity. PMID:16132981

Hyari, Muwafag; Hamamy, Hanan; Barham, Muries; Al-Hadidy, Azmy; Ajlouni, Kamel

2006-09-01

369

Perceptual interference decays over short unfilled intervals.  

PubMed

The perceptual interference effect refers to the fact that object identification is directly related to the amount of information available at initial exposure. The present article investigated whether perceptual interference would dissipate when a short, unfilled interval was introduced between exposures to a degraded object. Across three experiments using both musical and pictorial stimuli, identification performance increased directly with the length of the unfilled interval. Consequently, significant perceptual interference was obtained only when the interval between exposures was relatively short (< 500 msec for melodies; < 300 msec for pictures). These results are consistent with explanations that attribute perceptual interference to increased perceptual noise created by exposures to highly degraded objects. The data also suggest that perceptual interference is mediated by systems that are not consciously controlled by the subject and that perceptual interference in the visual domain decays more rapidly than perceptual interference in the auditory domain. PMID:11105520

Schulkind, M D

2000-09-01

370

Skylab short-lived event alert program  

NASA Technical Reports Server (NTRS)

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

Citron, R. A.

1974-01-01

371

A Variable Diameter Short Haul Civil Tiltrotor  

Microsoft Academic Search

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

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

1999-01-01

372

A short introduction to Columbus\\/CAN  

Microsoft Academic Search

In this paper we shortly present a reverseengineering framework called Columbus that is able toanalyze large C\\/C++ projects. Columbus supports projecthandling, data extraction, -representation, -storageand-export. Efficient filtering methods can be used toproduce comprehensible diagrams from the extractedinformation. The flexible architecture of the Columbussystem (based on plug-ins) makes it a really versatileand an easily extendible tool for reverse engineering.Keywords: reverse...

Rudolf Ferenc; Árpád Beszédes; Ferenc Magyar; Tibor Gyimóthy

2001-01-01

373

Self-Organized Short-Term Memories  

Microsoft Academic Search

We report short-term memory formation in a nonlinear dynamical system with\\u000amany degrees of freedom. The system ``remembers'' a sequence of impulses for a\\u000atransient period, but it coarsens and eventually ``forgets'' nearly all of\\u000athem. The memory duration increases as the number of degrees of freedom in the\\u000asystem increases. We demonstrate the existence of these transient memories in

S. n. Copper; T. C. Jones; L. P. Kadanoff; A. Levine; J. P. McCarten; S. R. Nagel; S. C. Venkataramani; Xinlei Wu

1997-01-01

374

Deformable mirror for short wavelength applications  

DOEpatents

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

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

1999-01-01

375

Short-time dynamics of nonextensive gluodynamics  

NASA Astrophysics Data System (ADS)

We introduce a new heat-bath thermalization algorithm to perform Monte Carlo simulations of gauge fields on the lattice in the nonextensive framework devised by Tsallis. This algorithm is employed to study the critical short-time relaxation dynamics of finite-temperature quenched Yang-Mills theory in that setup. Static and dynamic critical exponents computed around qTsallis ~ 1 regime are shown to approximately respect predictions from universality. Consequences of nonextensivity to the deconfinement phase transition are outlined.

Frigori, Rafael B.

2013-03-01

376

Short Tandem Repeat DNA Internet Database  

NSDL National Science Digital Library

This website contains comprehensive information relating to forensic DNA analysis. It has material from an introductory to an advanced level on forensic DNA technology. The material provides general information on DNA markers that are of interest to human identification. The site contains both introductory and in-depth discussions of short tandem repeats (STRs) and other DNA markers currently used by the forensic community. Powerpoint and PDF presentations on STR training material are available and can be readily downloaded.

2011-04-08

377

Retardation of ice crystallization by short peptides  

Microsoft Academic Search

The effect of short peptides on the growth of ice crystals is studied using molecular dynamics simulations. The simulations focus on two sequences (Gly-Pro-Ala-Gly and Gly-Gly-Ala-Gly) that are found in collagen hydrolysate, a substance that is known to retard crystal growth. In the absence of peptides, the growth of ice crystal in the solution with the ice\\/water interface is observed

Jun Soo Kim; Arun Yethiraj

2009-01-01

378

Management of the Short Bowel Syndrome  

Microsoft Academic Search

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

John K. DiBaise

379

Portfolio delegation under short-selling constraints  

Microsoft Academic Search

In this paper we study delegated portfolio management when the manager's ability to short-sell is restricted. Contrary to previous results, we show that under moral hazard, linear performance-adjusted contracts do provide portfolio managers with incentives to gather information. The risk-averse manager's optimal effort is an increasing function of her share in the portfolio's return. This result affects the risk-averse investor's

Juan-Pedro Gómez; Tridib Sharma

2003-01-01

380

Science Shorts: Plants on the Move  

NSDL National Science Digital Library

A person gets goose bumps or shivers when they are cold. A rabbit darts down a hole at a loud noise. These two actions are examples of a living things responding to its environment. All living things respond to their environment. Although you might not think of a plant having a response, in this month's Science Shorts you will examine some of the types of responses that plants can have to their environment. This article includes a corresponding activity.

Damonte, Kathleen

2005-04-01

381

Short-term international medical service.  

PubMed

There are many opportunities for short-term medical service internationally. Prerequisite preparation must include consideration of motivation, flexibility, culturally sensitive health care, and problems in communication and patient approach. Practical considerations require recognizing the importance of choice of locale, lack of materials and equipment, health concerns, travel, and expenses. A reference for opportunities available and a list of articles suggested as supplementary reading are provided. PMID:10725962

Woods, J E; Kiely, J M

2000-03-01

382

The Demonstration of Short-Term Consolidation  

Microsoft Academic Search

In a dual-task paradigm, a visual display (T1) containing characters (letters or symbols) was presented first, followed by an auditory signal (T2) at various stimulus-onset asynchronies (SOAs). A speeded response to T2was required. When the information in T1had to be recalled later, response times to T2(RT2) were elevated at short SOAs and decreased as SOA was increased. The effects on

Pierre Jolicœur; Roberto Dell'Acqua

1998-01-01

383

CAA of Short Non-MCQ Answers  

Microsoft Academic Search

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

David Callear; Jenny Jerrams-Smith; Victor Soh

2001-01-01

384

Optical Detection in Ultrafast Short Wavelength Science  

SciTech Connect

A new approach to coherent detection of ionising radiation is briefly motivated and recounted. The approach involves optical scattering of coherent light fields by colour centres in transparent solids. It has significant potential for diffractive imaging applications that require high detection dynamic range from pulsed high brilliance short wavelength sources. It also motivates new incarnations of Bragg's X-ray microscope for pump-probe studies of ultrafast molecular structure-dynamics.

Fullagar, Wilfred K.; Hall, Chris J. [School of Physics, Monash University, Victoria 3800 (Australia); Monash Centre for Synchrotron Science, Monash University, Victoria 3800 (Australia); Centre of Excellence for Coherent X-ray Science, School of Physics, University of Melbourne, Victoria, 3010 (Australia)

2010-06-23

385

Short-time Lyapunov exponent analysis  

NASA Technical Reports Server (NTRS)

A new technique for analyzing complicated fluid flows in numerical simulations has been successfully tested. The analysis uses short time Lyapunov exponent contributions and the associated Lyapunov perturbation fields. A direct simulation of the Taylor-Couette flow just past the onset of chaos demonstrated that this new technique marks important times during the system evolution and identifies the important flow features at those times. This new technique will now be applied to a 'minimal' turbulent channel.

Vastano, J. A.

1990-01-01

386

Very Short Time Lag of Sparking  

Microsoft Academic Search

Time lag of sparking in the very short time interval from 5.10-9 sec. to 115.10-9 sec. has been measured as a function of overvoltage and illumination using the electro-optical shutter with a constant illumination method. It was found that down to 10-9 sec. the time lags approached no lower limit if sufficiently high overvoltage was used. Variation of the intensity

Robert R. Wilson

1936-01-01

387

Short pulse high power fiber laser systems  

Microsoft Academic Search

We review the rapid recent progress in the development of short pulse high-power fiber laser and amplifier devices. Use of cladding pump technology now provides a route to compact and efficient laser and amplifier systems with high beam quality and high output powers. A new Yb-fiber CPA system incorporating a CFBG stretcher with both 2nd and 3rd order dispersion is

A. Malinowski; A. Piper; J. H. V. Price; F. HE; M. Ibsen; J. Nilsson; D. J. Richardson

2005-01-01

388

Activation, attention, and short-term memory  

Microsoft Academic Search

The premise of this paper is that the popular term “short-term memory” (STM) is vague because it is used to refer to either\\u000a (1) the set of representations from long-term memory currently in a state of heightened activation or (2) the focus of attention\\u000a or content of awareness. A more coherent conception of STM is hierarchical, with the focus of

Nelson Cowan

1993-01-01

389

A Short Note for Nonlocal TV Minimization  

Microsoft Academic Search

This is a short note to explain how to e-ciently minimize the nonlocal Total Variation (NLTV) energy. The method is based on the Split-Bregman (SB), introduced by Goldstein-Osher in (8), and extended to a nonlocal\\/graph version by Zhang-Burger-Bresson-Osher in (13). For the 256 £ 256 Barbara picture, the computation of weights takes around 1 second for a patch size 5

Xavier Bresson

390

Short Trips and Long Days: Safety and Health in Short-Haul Trucking  

Microsoft Academic Search

This paper looks at the role and influence of contingent employment among short-haul truckers, an occupational group that has been little studied to date. A 2003 survey of Australian short-haul drivers examined the predictors of health and safety outcomes for all drivers and provided comparative information on the working hours, occupational safety and health, and work-life conflict of permanent employees,

Ann Williamson; Philip Bohle; Michael Quinlan; David Kennedy

2009-01-01

391

Short Term Depression Unmasks the Ghost Frequency  

PubMed Central

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

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

2012-01-01

392

Ultra-short silicon MMI duplexer  

NASA Astrophysics Data System (ADS)

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.

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

2012-11-01

393

Microbial production of short-chain alkanes.  

PubMed

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

Choi, Yong Jun; Lee, Sang Yup

2013-10-24

394

Online Short Course: Energy, Summer 2009  

NSDL National Science Digital Library

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

1900-01-01

395

Online Short Course: Energy, Winter 2008  

NSDL National Science Digital Library

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

1900-01-01

396

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

PubMed

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

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

2013-10-01

397

Longitudinal Diagnostics for Short Electron Beam Bunches  

SciTech Connect

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

Loos, H.; /SLAC; ,

2010-06-11

398

Short-range interaction between hydrogen molecules  

NASA Technical Reports Server (NTRS)

Recent calculations of the ground state energy of a system of four hydrogen atoms are reviewed with the aim of discerning the short-range repulsive part of the interaction potential between two hydrogen molecules. Extended-basis CI calculations which include a diffuse 2p orbital appear to be capable of determining the total interaction energy between to hydrogen molecules for any separation. Consistent results of such calculations suggest that the potential for intermolecular separations in the region from 1 to 2.5 A can now be specified to better than 10% with considerable confidence. Analytic fits to spherical averages of these results are presented.

Mcmahan, A. K.; Beck, H.; Krumhansl, J. A.

1974-01-01

399

Short wavelength ion temperature gradient turbulence  

SciTech Connect

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

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

2012-10-15

400

Thomson scattering in short pulse laser experiments  

SciTech Connect

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

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

2012-08-15

401

SOFIP: A Short Orbital Flux Integration Program  

NASA Technical Reports Server (NTRS)

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

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

1979-01-01

402

Short wavelength ion temperature gradient turbulence  

NASA Astrophysics Data System (ADS)

The ion temperature gradient (ITG) mode in the high wavenumber regime (ky?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 (ky?s<1) ITG mode, nonlinearly its contribution to the total thermal ion heat transport is found to be low. We interpret this as resulting from an increased zonal flow shearing effect on the SWITG mode suppression.

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

2012-10-01

403

Short range solvation by cyclic thioethers  

NASA Astrophysics Data System (ADS)

Short range solvation by thioethers in benzene bulk solvent is studied by observing the change in proton transfer equilibrium constant ( KPT) that occurs for reactions between 2,4-dinitrophenol and diethylamine. Solvation stoichiometries and binding constants were determined by fitting KPT vs. thioether concentration data to binding isotherms. These results indicate that 1,4-thioxane hydrogen bonds to the amine proton such that the ring oxygen and the ring sulphur contribute electrons to the proton, and that two thioxane molecules solvate the proton. 1,4-Dithiane contributes electrons from both sulfurs to the proton, but only one dithiane molecule solvates a given proton.

Zhu, C. Q.; Zhou, N. Z.; Schullery, S. E.; Scott, R. M.

1996-07-01

404

Short-cavity squeezing in barium  

NASA Technical Reports Server (NTRS)

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

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

1992-01-01

405

Short course ciprofloxacin therapy for enteric fever.  

PubMed

A short course of ciprofloxacin, 750 mgm b.i.d. for 7 days was found to be effective in the treatment of enteric fever in 21 hospitalized patients with S.typhi (18) and S.paratyphi A(3). Median time for fever response was 3 days. All isolates were susceptible to ciprofloxacin (MIC 0.0078-0.062 mcgm/ml). The mean serum peak and trough levels were 5.4 and 1.6 mcgm/ml respectively. Stool cultures were free of Salmonellae on follow up (11-24 weeks). Two developed recurrence of paratyphoid fever, 17 days and 4 months after therapy. PMID:8300488

Mathai, D; Kudva, G C; Keystone, J S; Kozarsky, P E; Jesudason, M V; Lalitha, M K; Kaur, A; Thomas, M; John, J; Pulimood, B M

1993-07-01

406

A Variable Diameter Short Haul Civil Tiltrotor  

NASA Technical Reports Server (NTRS)

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

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

1999-01-01

407

Failure Prevention by Short Time Corrosion Tests  

SciTech Connect

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

MICKALONIS, JOHN

2005-05-01

408

Short rise time intense electron beam generator  

DOEpatents

A generator for producing an intense relativisitc 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.

Olson, C.L.

1984-03-16

409

PTSD-8: A Short PTSD Inventory.  

PubMed

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

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

2010-01-01

410

B-S Transition in Short Oligonucleotides  

PubMed Central

Stretching experiments with long double-stranded DNA molecules in physiological ambient revealed a force-induced transition at a force of 65 pN. During this transition between B-DNA and highly overstretched S-DNA the DNA lengthens by a factor of 1.7 of its B-form contour length. Here, we report the occurrence of this so-called B-S transition in short duplexes consisting of 30 basepairs. We employed atomic-force-microscope-based single molecule force spectroscopy to explore the unbinding mechanism of two short duplexes containing 30 or 20 basepairs by pulling at the opposite 5? termini. For a 30-basepair-long DNA duplex the B-S transition is expected to cause a length increase of 6.3 nm and should therefore be detectable. Indeed 30% of the measured force-extension curves exhibit a region of constant force (plateau) at 65 pN, which corresponds to the B-S transition. The observed plateaus show a length between 3 and 7 nm. This plateau length distribution indicates that the dissociation of a 30-basepair duplex mainly occurs during the B-S transition. In contrast, the measured force-extension curves for a 20-basepair DNA duplex exhibited rupture forces below 65 pN and did not show any evidence of a B-S transition.

Morfill, Julia; Kuhner, Ferdinand; Blank, Kerstin; Lugmaier, Robert A.; Sedlmair, Julia; Gaub, Hermann E.

2007-01-01

411

Short hyperdynamic profiles influence primate temperature regulation  

NASA Technical Reports Server (NTRS)

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

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

1982-01-01

412

Intraocular lens short wavelength light filtering.  

PubMed

There is increasing interest in the effects of reactive oxygen species ('free radicals') in ageing, both in the body overall and specifically in the eye. Cataract and age-related macular degeneration (AMD) are two major causes of blindness, with cataract accounting for 48 per cent of world blindness and AMD accounting for 8.7 per cent. Both cataract and AMD affect an older population (over 50?years of age) and while cataract is largely treatable provided resources are available, AMD is a common cause of untreatable, progressive visual loss. There is evidence that AMD is linked to exposure to short wavelength electromagnetic radiation, which includes ultraviolet, blue and violet wavelengths. The ageing crystalline lens provides some protection to the posterior pole because, as it yellows with age, its spectral absorption increasingly blocks the shorter wavelengths of light. Ultraviolet blocking intraocular lenses (IOLs) have been the standard of care for many years but a more recent trend is to include blue-blocking filters based on theoretical benefits. As these filters absorb part of the visible spectrum, they may affect visual function. This review looks at the risks and the benefits of filtering out short wavelength light in pseudophakic patients. PMID:20950366

Edwards, Keith H; Gibson, G Anthony

2010-11-01

413

Short Term Exogenic Climate Change Forcing  

NASA Astrophysics Data System (ADS)

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.

Krahenbuhl, Daniel

414

Clinical Features of Turner Syndrome  

MedlinePLUS

Clinical Features Quick Navigation Introduction General Appearance Short Stature Puberty/Reproduction Heart Kidney Osteoporosis Diabetes Thyroid CognitiveFunction/ Educational Issues Table 1. - phenotype incidences ...

415

Short Gamma-ray Bursts: Observations and Physics  

NASA Astrophysics Data System (ADS)

The aim of the workshop, which will be held at the scenic Ringberg castle, is supposed to bring together astrophysicists, physicists, and astronomers from different fields in order to discuss recent observational and theoretical discoveries and developments on short gamma-ray bursts. In particular, we plan to address the following topics: * recent short GRB observations * environments and host galaxies of short GRBs * is there a 3rd class of GRBs? * modeling GRB engines and jet outflows * rate and redshift predictions for short GRBs * the fireball model and short GRBs * gravitational-wave signals from short GRBs * neutrino signals from short GRBs * microphysics needed for modeling short GRBs and their engines Scientific and Local organizing committee members: H.-Thomas Janka (Max Planck Institute for Astrophysics, Garching), Miguel Aloy (University of Valencia), Jochen Greiner (Max Planck Institute for Extraterrestrial Physics), Sandra Savaglio (Max Planck Institute for Extraterrestrial Physics), Shri Kulkarni (California Institute of Technology, Pasadena)

Janka, H.-Thomas

2007-04-01

416

Development of a Short Form of the Roommate Rapport Scale.  

ERIC Educational Resources Information Center

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)

Carey, John C.; And Others

1988-01-01

417

Brief Synopsis of the Utility of MMPI Short Forms.  

ERIC Educational Resources Information Center

Provides a brief synopsis of the utility of Minnesota Multiphasic Personality Inventory (MMPI) short forms with psychiatric, medical and normal samples. Strengths and limitations of each MMPI short form are discussed. (Author)

Newmark, Charles S.

1981-01-01

418

An analysis of short haul airline operating costs  

NASA Technical Reports Server (NTRS)

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.

Kanafani, A.; Taghavi, S.

1975-01-01

419

Measurement of short span stress-strain curves of paper  

Microsoft Academic Search

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

Warren J. Batchelor; Bo S. Westerlind

2003-01-01

420

Short-term energy outlook quarterly projections. First quarter 1994  

SciTech Connect

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

Not Available

1994-02-07

421

Anxiety as a Personality Dimension of Short and Long Sleepers.  

ERIC Educational Resources Information Center

Tested Hartmann's (1973) hypothesis that consistent short sleepers tend to be nonworriers while long sleepers tend to worry. Indian college students (N=50) classified as long or short sleepers took the Hindi version of Sinha Anxiety Scale. Results showed short sleepers had higher levels of anxiety, questioning Hartmann's results. (JAC)

Kumar, Anand; Vaidya, A. K.

1984-01-01

422

Styrene butadiene rubber-short nylon fiber composites  

Microsoft Academic Search

The cure characteristics and mechanical properties of short nylon fiber reinforced styrene butadiene rubber were studied at varying fiber concentration. The plasticity of the composite was adversely affected by nylon short fibers. The minimum torque increased with fiber concentration. Scorch time and cure time showed a reduction in presence of short fibers. The tensile strength, tear strength, elongation at break

T. D. Sreeja; S. K. N. Kutty

2003-01-01

423

Determining the Best WISC-R Short Forms.  

ERIC Educational Resources Information Center

Two kinds of WISC-R short forms, item reduction and subtest reduction, are reviewed in terms of their ability to meet these criteria of adequacy: a significant correlation between the full scale IQ and the short form IQ, a non-significant difference between the full and short form mean IQ, a low percentage of IQ classification changes resulting…

Zimmerman, Irla L.; Woo-Sam, James M.

424

In Search of Decay in Verbal Short-Term Memory  

ERIC Educational Resources Information Center

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

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

2009-01-01

425

Visual short-term memory: Central capacity limitations in short-term consolidation  

Microsoft Academic Search

We investigated whether there are central capacity limitations on consolidating information in visual short-term memory (VSTM). Subjects performed a visual memory task (deciding if two displays were the same or different) and a speeded tone pitch discrimination. When the tasks were performed concurrently, interference was observed in both tasks, suggesting that VSTM consolidation requires central resources. The cost of consolidating

Biljana Stevanovski; Pierre Jolicoeur

2007-01-01

426

Short Wavelength Chemical Laser (SWCL) Workshop  

NASA Astrophysics Data System (ADS)

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

Watt, W.

1984-12-01

427

Vitreon, a short-term vitreoretinal tamponade.  

PubMed Central

This investigation of the liquid perfluorocarbon, perfluorophenanthrene (Vitreon), establishes its safety and efficacy as a short-term vitreoretinal tamponade. We utilised Vitreon as an intraoperative tool and postoperative vitreoretinal tamponade in 16 patients. Proliferative vitreoretinopathy (PVR) (six), giant retinal tear (four), rhegmatogenous retinal detachment (three), retinal detachment with keratoprosthesis (two), and submacular and vitreous haemorrhage (one) were successfully repaired. Vitreon was left in the eye and removed 5 days to 4 weeks postoperatively. Complications encountered included proliferative PVR (five), limited peripheral retinal detachment (three), macular pucker (two) cataract (three), hypotony (two), excessive fibrin reaction (one), and elevated intraocular pressure (one). At the latest evaluation, all retinas are attached with a follow-up of 1.25 to 12 months (mean 6.8 months).

Blinder, K J; Peyman, G A; Desai, U R; Nelson, N C; Alturki, W; Paris, C L

1992-01-01

428

Retardation of ice crystallization by short peptides  

NASA Astrophysics Data System (ADS)

The effect of short peptides on the growth of ice crystals is studied using molecular dynamics simulations. The simulations focus on two sequences (Gly-Pro-Ala-Gly and Gly-Gly-Ala-Gly) that are found in collagen hydrolysate, a substance that is known to retard crystal growth. In the absence of peptides, the growth of ice crystal in the solution with the ice/water interface is observed in at a rate comparable to the experimental data. When peptides are present in the liquid phase, the crystal growth is retarded to a significant extent compared to the pure water. It is found that Gly-Pro-Ala-Gly is more effective (crystallization is up to 5 times slower than in its absence) than Gly-Gly-Ala-Gly (up to 3 times slower) implying that the role of the proline residue is important. The mechanism can be understood in the nature of binding of the peptides to the growing crystal.

Kim, Jun Soo; Yethiraj, Arun

2009-03-01

429

Immunological HCV-Associated Thrombocytopenia: Short Review  

PubMed Central

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

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

2012-01-01

430

Patterns of short saphenous vein incompetence.  

PubMed

The significance of short saphenous vein (SSV) reflux is an under-explored territory in chronic venous disease (CVD). We have examined the origin and significance of SSV reflux in primary and secondary CVD. While the natural history of SSV incompetence remains uncertain, its prevalence has been shown to approximate 3.5%, rising with progressing clinical venous insufficiency, and bears an association with lateral malleolar venous ulceration. The most common pattern of reflux extends throughout the SSV. Patterns of incompetence in recurrent disease are highly variable, but SSV reflux may itself pose a risk for recurrence, in part due to the complex anatomy of the saphenopopliteal system. Further studies are required to delineate the impact of SSV reflux in secondary venous disease and deep venous incompetence. PMID:23482534

Qureshi, M I; Lane, T R A; Moore, H M; Franklin, I J; Davies, A H

2013-03-01

431

Challenges of short-haul air transportation  

NASA Technical Reports Server (NTRS)

Short-haul transportation systems are characterized by low average utilization, high peak but low average passenger demand, severe competition from other transportation modes, high fixed costs and high operating costs. Studies were conducted to analyze the operational requirements and market size for medium-density air transportation. The determination of the aircraft that will most efficiently meet the requirements of this market requires the careful evaluation of variable parameters such as engine cycles, payload, field length range and type of high-lift system. Low noise, low cost and thrust reversing capability are the basic criteria for the propulsion system. It is concluded that aircraft of less than 50-seat capacity cannot generate satisfactory profits operating in the medium-density market.

Galloway, T. L.; Stern, J. A.

1975-01-01

432

Short course review and the future  

NASA Astrophysics Data System (ADS)

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.

Corden, Pierce S.

2014-05-01

433

Brain Connectivity Analysis: A Short Survey  

PubMed Central

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.

Lang, E. W.; Tome, A. M.; Keck, I. R.; Gorriz-Saez, J. M.; Puntonet, C. G.

2012-01-01

434

Short Barcodes for Next Generation Sequencing  

PubMed Central

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

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

2013-01-01

435

Long pulse production from short pulses  

DOEpatents

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

Toeppen, John S. (Livermore, CA)

1994-01-01

436

Long pulse production from short pulses  

DOEpatents

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

Toeppen, J.S.

1994-08-02

437

Survey of industrial hygiene short course training.  

PubMed

Approximately 2400 short courses were presented in the U. S. for environmental health professionals from 1977 through 1979. During 1977, over 30% of these courses pertained to the field of industrial hygiene. By 1979, this had increased to 41% and the average annual growth rate in the number of such courses was over 75%. A major part of this growth is attributable to private sector companies which offered 67% of the industrial hygiene courses presented during the first half of 1979, up from 35% in 1977. Profiles of industrial hygiene course participants showed that the majority were mid-career professionals. Their average age was 37.5 years, over 86% were males, and 85% had college degrees. PMID:7395738

Moeller, D W

1980-04-01

438

Short range correlations and the EMC effect.  

PubMed

This Letter shows quantitatively that the magnitude of the EMC effect measured in electron deep inelastic scattering at intermediate x(B), 0.35?x(B)?0.7, is linearly related to the short range correlation (SRC) scale factor obtained from electron inclusive scattering at x(B)?1. The observed phenomenological relationship is used to extract the ratio of the deuteron to the free pn pair cross sections and F(2)(n)/F(2)(p), the ratio of the free neutron to free proton structure functions. We speculate that the observed correlation is because both the EMC effect and SRC are dominated by the high virtuality (high momentum) nucleons in the nucleus. PMID:21405385

Weinstein, L B; Piasetzky, E; Higinbotham, D W; Gomez, J; Hen, O; Shneor, R

2011-02-01

439

Short range correlations and the EMC effect  

NASA Astrophysics Data System (ADS)

The magnitude of the EMC effect measured in electron deep inelastic scattering (DIS) is linearly related to the Short Range Correlation (SRC) scaling factor obtained from electron inclusive scattering. We speculate that the observed correlation is due to the fact that both the EMC effect and SRC are dominated by high momentum nucleons in the nucleus. The observed phenomenological relationship can be used to extract the ratio of the deuteron to the free pn-pair cross sections, the DIS cross section for a free neutron, F2n/F2p, the ratio of the free neutron to free proton structure functions, and the u/d ratio in a free proton.

Piasetzky, E.; Weinstein, L. B.; Higinbotham, D. W.; Gomez, J.; Hen, O.; Shneor, R.

2011-04-01

440

Short Range Correlations and the EMC Effect  

NASA Astrophysics Data System (ADS)

This Letter shows quantitatively that the magnitude of the EMC effect measured in electron deep inelastic scattering at intermediate xB, 0.35?xB?0.7, is linearly related to the short range correlation (SRC) scale factor obtained from electron inclusive scattering at xB?1. The observed phenomenological relationship is used to extract the ratio of the deuteron to the free pn pair cross sections and F2n/F2p, the ratio of the free neutron to free proton structure functions. We speculate that the observed correlation is because both the EMC effect and SRC are dominated by the high virtuality (high momentum) nucleons in the nucleus.

Weinstein, L. B.; Piasetzky, E.; Higinbotham, D. W.; Gomez, J.; Hen, O.; Shneor, R.

2011-02-01

441

Practical LCA for short shelf life products  

NASA Astrophysics Data System (ADS)

Manufacturers in many of today's industries are faced with product shelf life counted in months. Traditionally, this has made it very difficult to make a life cycle assessment (LCA) of a product, since the product would be obsolete by the time the LCA was completed. A new concept in LCA that allows specialists in things other than LCA to rapidly create both a model and generate "what-if" scenarios will allow even manufacturers of short shelf life products take advantage of the benefits of LCA. These industry-specific "wizards" are built around a manufacturing process and can be rapidly updated or customized to a particular manufacturer or process type. Results can be used internally for decision-making and can also enable manufacturers submit information for environmentally preferable purchasing, eco-labels, etc.

Laurin, Lise; Goedkoop, Mark; Norris, Greg

2005-11-01

442

GASSST: global alignment short sequence search tool  

PubMed Central

Motivation: The rapid development of next-generation sequencing technologies able to produce huge amounts of sequence data is leading to a wide range of new applications. This triggers the need for fast and accurate alignment software. Common techniques often restrict indels in the alignment to improve speed, whereas more flexible aligners are too slow for large-scale applications. Moreover, many current aligners are becoming inefficient as generated reads grow ever larger. Our goal with our new aligner GASSST (Global Alignment Short Sequence Search Tool) is thus 2-fold—achieving high performance with no restrictions on the number of indels with a design that is still effective on long reads. Results: We propose a new efficient filtering step that discards most alignments coming from the seed phase before they are checked by the costly dynamic programming algorithm. We use a carefully designed series of filters of increasing complexity and efficiency to quickly eliminate most candidate alignments in a wide range of configurations. The main filter uses a precomputed table containing the alignment score of short four base words aligned against each other. This table is reused several times by a new algorithm designed to approximate the score of the full dynamic programming algorithm. We compare the performance of GASSST against BWA, BFAST, SSAHA2 and PASS. We found that GASSST achieves high sensitivity in a wide range of configurations and faster overall execution time than other state-of-the-art aligners. Availability: GASSST is distributed under the CeCILL software license at http://www.irisa.fr/symbiose/projects/gassst/ Contact: guillaume.rizk@irisa.fr; dominique.lavenier@irisa.fr Supplementary information: Supplementary data are available at Bioinformatics online.

Rizk, Guillaume; Lavenier, Dominique

2010-01-01

443

Inference of Isoforms from Short Sequence Reads  

PubMed Central

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

Li, Wei; Jiang, Tao

2011-01-01

444

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

PubMed

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

Tug, E; Cine, N; Aydin, H

2011-01-01

445

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

PubMed

Smith-Magenis syndrome (SMS) is a clinically recognizable contiguous gene syndrome ascribed to an interstitial deletion in chromosome 17p11.2. Seventy percent of SMS patients have a common deletion interval spanning 3.5 megabases (Mb). Clinical features of SMS include characteristic mild dysmorphic features, ocular anomalies, short stature, brachydactyly, and hypotonia. SMS patients have a unique neurobehavioral phenotype that includes intellectual disability, self-injurious behavior and severe sleep disturbance. Little has been reported in the medical literature about anatomical brain anomalies in patients with SMS. Here we describe two patients with SMS caused by the common deletion in 17p11.2 diagnosed using chromosomal microarray (CMA). Both patients had a typical clinical presentation and abnormal brain magnetic resonance imaging (MRI) findings. One patient had subependymal periventricular gray matter heterotopia, and the second had a thin corpus callosum, a thin brain stem and hypoplasia of the cerebellar vermis. This report discusses the possible abnormal MRI images in SMS and reviews the literature on brain malformations in SMS. Finally, although structural brain malformations in SMS patients are not a common feature, we suggest baseline routine brain imaging in patients with SMS in particular, and in patients with chromosomal microdeletion/microduplication syndromes in general. Structural brain malformations in these patients may affect the decision-making process regarding their management. © 2014 Wiley Periodicals, Inc. PMID:24788350

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

2014-08-01

446

Clinical and genetic features of Prader-Willi syndrome in China.  

PubMed

We set out to delineate the phenotypic and genotypic characteristics of Prader-Willi syndrome (PWS), a congenital neurodevelopmental disorder caused by the lack of expression of the paternally inherited imprinted genes on chromosome 15q11-13 in 31 Chinese patients. They were genotyped to identify deletions using methylation-specific polymerase chain reaction analysis and subsequent methylation-specific multiplex ligation-dependent probe amplification analysis. Microsatellite linkage analysis was performed to distinguish maternal uniparental disomy (UPD) from imprinting defect. Clinical manifestations were recorded and compared between patients with paternal 15q11-13 deletion and UPD. Deletions in the 15q11-13 region were present in 26 (83.9 %) patients, and UPD was observed in 5 (16.1 %) patients. The mean maternal age at the time of childbirth for mUPD children (32.8?±?5.1 years) was significantly higher than that of children with paternal 15q11-13 deletion (27.1±3.2 years, P?hypotonia, feeding difficulties in infancy, and decreased fetal activity, but only 12.9 % of the patients showed short stature, 54.8 % presented typical facial features, and 35.5 % showed skin picking lesions. Conclusion: Significant heterogeneity in clinical phenotypes and genotypes in PWS were observed between Chinese and Western populations in this study. This suggests that ethnic differences may be relevant to the diagnostic criteria for PWS. PMID:23933672

Lu, Wei; Qi, Yan; Cui, Bing; Chen, Xiu-Li; Wu, Bing-Bing; Chen, Chao; Cao, Yun; Zhou, Wen-Hao; Xu, Hong; Luo, Fei-Hong

2014-01-01

447

A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2.  

PubMed

We report on a Palestinian family with three affected individuals exhibiting progeroid syndrome characterized by intrauterine growth retardation, a progeroid appearance, failure to thrive, short stature, and hypotonia. The progeroid features were evident at birth. All the affected members of this family have survived beyond the neonatal period and one of them is currently a 27-year-old adult. As parental consanguinity suggested an autosomal recessive mode of inheritance, we employed homozygosity mapping using single nucleotide polymorphism arrays followed by next generation whole exome sequencing to identify the disease-causing gene. We were able to identify a single block of homozygosity shared between all the affected members of the studied family spanning 2.3 Mb on chromosome 19p13.3p13.2. However, Sanger sequencing of known genes and whole exome sequencing of the three affected sibs did not reveal a convincing causal mutation. These findings are anticipated to open the way for the identification of the molecular causes underlying this syndrome. PMID:23696134

Akawi, Nadia; Ali, Bassam; Al Gazali, Lihadh

2013-07-01

448

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

PubMed Central

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

2012-01-01

449

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

PubMed

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

Jin, Dong-Kyu

2012-07-01

450

Familial 1.1 Mb deletion in chromosome Xq22.1 associated with mental retardation and behavioural disorders in female patients.  

PubMed

We report on a 7-year-old girl with severe mental retardation (MR), autism, micro-brachycephaly, generalized muscle hypotonia with distal hypotrophy of lower limbs, scoliosis and facial dysmorphisms. Array-CGH analysis identified a 1.1 Mb deletion of chromosome Xq22.1. Further analysis demonstrated that the deletion was inherited from her mother who showed mild MR, short stature, brachycephaly, epilepsy and a Borderline Personality Disorder. Microsatellite segregation analysis revealed that the rearrangement arose de novo in the mother on the paternal X chromosome. The deleted Xq22.1 region contains part of the NXF gene cluster which is involved in mRNA nuclear export and metabolism. Among them, the NXF5 gene has already been linked to mental retardation whereas NXF2 protein has been recently found to be partner of FMRP in regulating Nxf1 mRNA stability in neuronal cells. The dosage imbalance of NXF5 and NXF2 genes may explain the severe phenotype in our patient. PMID:20096387

Grillo, L; Reitano, S; Belfiore, G; Spalletta, A; Amata, S; Bottitta, M; Barone, C; Falco, M; Fichera, M; Romano, C

2010-01-01

451

Orthopedic manifestations and implications for individuals with Costello syndrome.  

PubMed

Costello syndrome is a rare genetic condition caused by heterozygous alterations in HRAS and characterized by multi-system abnormalities. Individuals with Costello syndrome usually present with severe feeding difficulties in infancy, short stature, coarse facial features, increased tumor risks, cardiac and neurological complications, intellectual disability and orthopedic complications. This study further defines the orthopedic manifestations affecting individuals with Costello syndrome. We studied 43 participants and performed medical records review, clinical examinations and orthopedic inquiry forms. In 23 participants, hip and or spinal imaging assessments were completed. Serial radiographs were analyzed when available. A total of 25 orthopedic manifestations were identified. Ten manifestations were seen in the majority of the participants: hypotonia (87%), ligamentous laxity (85%), scoliosis (63%), kyphosis (58%), characteristic hand deformities (85%), ulnar deviation of the wrist (63%), elbow (55%) and shoulder contractures (65%), tight Achilles tendon (73%), and pes planus (53%). Other characteristics of special note were hip dysplasia (45%), foot deformities requiring surgical intervention (38%) and osteopenia/osteoporosis (47%). We also studied the development of the hips and spine. Uni- or bilateral hip dysplasia was congenital in some, while it developed throughout childhood in others. Spinal involvement included scoliosis, kyphosis, lordosis, and curvature reversal (thoracic lordosis and lumbar kyphosis). Based on these findings, we recommend routine referral to an orthopedic surgeon as well as instituting screening protocols for hips and spine for individuals with Costello syndrome. PMID:23813656

Detweiler, Stacey; Thacker, Mihir M; Hopkins, Elizabeth; Conway, Laura; Gripp, Karen W

2013-08-01

452

Assessment of highly active dune mobility in the medium, short and very short term  

NASA Astrophysics Data System (ADS)

Dune activity or stability has usually been studied over long time periods; however, this may not reflect changes that occur in the short term, especially for highly active dunefields. Extreme wind conditions that are generated near the Strait of Gibraltar (SW Spain) have given rise to the transgressive Valdevaqueros dunefield. The current work focuses on analyzing the sand drift potential and the evolution of the dune profile in the medium term (months), the short term (days) and the very short term (hours). Topographic data, which were collected with a differential GPS, were interpreted from reconstructed empirical orthogonal functions (EOF). The results showed that generally the dune profile presented shifting morphologies, especially around the crest and brink, and a trend towards migration to a gentler steady state. As a result, the leeward side adopted continuous slope variations during the different survey periods, whereas the windward slope did not undergo any significant change. Lateral and vertical displacements were analyzed during a severe easterly sandstorm, when the dune brink experienced an advance migration rate of 1.75 m in 24 h. Sand transport rates of 25.5-36.5 m 3 m - 1 month - 1 , 22.52 m 3 m - 1 day - 1 and 0.93 m 3 m - 1 h - 1 were measured for the medium term, short term and very short term, respectively. These values were compared to the theoretical sand transport rate for Valdevaqueros dune, based on the classic Bagnold equation as well other more recent formulae, to obtain a ratio between the real and the theoretical rates for each study period. These results together with the sand drift potential (up to 10,000 vector units) demonstrate that Valdevaqueros (Tarifa) is a dunefield with one of the highest sand transport capacities in Europe.

Navarro, Marina; Muñoz-Pérez, Juan J.; Román-Sierra, Jorge; Tsoar, Haim; Rodríguez, Inmaculada; Gómez-Pina, Gregorio

2011-06-01

453

Hybrid effects on tensile properties of hybrid short-glass-fiber-and short-carbon-fiber-reinforced polypropylene composites  

Microsoft Academic Search

Hybrid composites of polypropylene reinforced with short glass fibers and short carbon fibers were prepared using extrusion compounding and injection molding techniques. The tensile properties of these composites were investigated taking into account the effect of the hybridization by these two types of short fibers. It was noted that the tensile strength and modulus of the hybrid composites increase while

Shao-Yun Fu; Bernd Lauke; Edith Mäder; Chee-Yoon Yue; Xiao Hu; Yiu-Wing Mai

2001-01-01

454

Generation of short and intense attosecond pulses  

NASA Astrophysics Data System (ADS)

Extremely broad bandwidth attosecond pulses (which can support 16as pulses) have been demonstrated in our lab based on spectral measurements, however, compensation of intrinsic chirp and their characterization has been a major bottleneck. In this work, we developed an attosecond streak camera using a multi-layer Mo/Si mirror (bandwidth can support ˜100as pulses) and position sensitive time-of-flight detector, and the shortest measured pulse was 107.5as using DOG, which is close to the mirror bandwidth. We also developed a PCGPA based FROG-CRAB algorithm to characterize such short pulses, however, it uses the central momentum approximation and cannot be used for ultra-broad bandwidth pulses. To facilitate the characterization of such pulses, we developed PROOF using Fourier filtering and an evolutionary algorithm. We have demonstrated the characterization of pulses with a bandwidth corresponding to ˜20as using synthetic data. We also for the first time demonstrated single attosecond pulses (SAP) generated using GDOG with a narrow gate width from a multi-cycle driving laser without CE-phase lock, which opens the possibility of scaling attosecond photon flux by extending the technique to peta-watt class lasers. Further, we generated intense attosecond pulse trains (APT) from laser ablated carbon plasmas and demonstrated ˜9.5 times more intense pulses as compared to those from argon gas and for the first time demonstrated a broad continuum from a carbon plasma using DOG. Additionally, we demonstrated ˜100 times enhancement in APT from gases by switching to 400 nm (blue) driving pulses instead of 800 nm (red) pulses. We measured the ellipticity dependence of high harmonics from blue pulses in argon, neon and helium, and developed a simple theoretical model to numerically calculate the ellipticity dependence with good agreement with experiments. Based on the ellipticity dependence, we proposed a new scheme of blue GDOG which we predict can be employed to extract intense SAP from an APT driven by blue laser pulses. We also demonstrated compression of long blue pulses into >240 microJ broad-bandwidth pulses using neon filled hollow core fiber, which is the highest reported pulse energy of short blue pulses. However, compression of phase using chirp mirrors is still a technical challenge.

Khan, Sabih Ud Din

455

Recognition of Short Time-Paired Activities  

NASA Astrophysics Data System (ADS)

We undertake numerous activities in our daily life and for some of those we forget to complete the action as originally intended. Significant aspects while performing most of these actions might be: “pairing of both hands simultaneously” and “short time consumption”. In this work an attempt has been made to recognize those kinds of Paired Activities (PAs), which are easy to forget, and to provide a method to remind about uncompleted PAs. To represent PAs, a study was done on opening and closing of various bottles. A model to define PAs, which simulated the paired behavior of both hands, is proposed, called “Paired Activity Model” (PAM). To recognize PAs using PAM, Paired Activity Recognition Algorithm (PARA) was implemented. Paired motion capturing was done by accelerometers, which were worn by subjects on the wrist areas of both hands. Individual and correlative behavior of both hands was used to recognize exact PA among other activities. Artificial Neural Network (ANN) algorithm was used for data categorization in PARA. ANN significantly outperformed the support vector machine algorithm in real time evaluations. In the user-independent case, PARA achieved recognition rates of 96% for only target PAs and 91% for target PAs undertaken amidst unrelated activities.

Chaminda, Hapugahage Thilak; Klyuev, Vitaly; Naruse, Keitaro; Osano, Minetada

456

Retroactive Signaling in Short Signaling Pathways  

PubMed Central

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, offere