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Sample records for short stature hypotonia

  1. Imaging in short stature

    PubMed Central

    Chaudhary, Vikas; Bano, Shahina

    2012-01-01

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

  2. Genetic Evaluation of Short Stature

    PubMed Central

    Rosenfeld, Ron G.

    2014-01-01

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

  3. Syndromic Disorders with Short Stature

    PubMed Central

    Şıklar, Zeynep; Berberoğlu, Merih

    2014-01-01

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

  4. Syndromic disorders with short stature.

    PubMed

    Şıklar, Zeynep; Berberoğlu, Merih

    2014-01-01

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

  5. Hypotonia

    MedlinePlus

    ... ways to prevent and treat them. NIH Patient Recruitment for Hypotonia Clinical Trials At NIH Clinical Center Throughout the U.S. and Worldwide NINDS Clinical Trials Organizations Column1 Column2 Muscular Dystrophy Association National Office - 222 S. ...

  6. Short Stature in Childhood and Adolescence

    PubMed Central

    Schnell, Frank N.; Bannard, James R.

    1991-01-01

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

  7. Short Stature in Childhood and Adolescence

    PubMed Central

    Bannard, James R.; Schnell, Frank N.

    1991-01-01

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

  8. Short StaturePhysiology and Pathology

    PubMed Central

    Rimoin, David L.; Borochowitz, Zvi; Horton, William A.

    1986-01-01

    Stature, the quantitative measure of height, varies widely within each ethnic group with a fairly normal distribution. Of the numerous patients whom physicians encounter because of short stature, relatively few are pathologically small in the context of family and ethnic background. Physicians must be able to differentiate pathologic short stature from the lower end of the normal curve before embarking on a complex diagnostic evaluation. There are literally hundreds of different causes of short stature, and the clinical evaluation requires a wide variety of clinical, radiographic, pathologic and biochemical tools. Although specific treatment to promote growth is available only in persons with the endocrinopathies and the acquired nutritional, emotional and chronic disease states, diagnosis of the specific form of short stature can have great importance in being able to prevent complications and to offer accurate prognostic information and genetic counseling. ImagesFigure 2.Figure 3. PMID:2873688

  9. Novel approaches to short stature therapy.

    PubMed

    Wit, Jan M; Oostdijk, Wilma

    2015-06-01

    Besides growth hormone, several pharmaceutical products have been investigated for efficacy and safety in increasing short term growth or adult height. Short-term treatment with testosterone esters in boys with constitutional delay of growth and puberty is efficacious in generating secondary sex characteristics and growth acceleration. The addition of oxandrolone to growth hormone (GH) in Turner syndrome has an additive effect on adult height gain. Treatment with GnRH analogs is the established treatment of central precocious puberty, and its addition to GH therapy appears effective in increasing adult height in GH deficient children, and possibly short children born SGA or with SHOX deficiency, who are still short at pubertal onset. Aromatase inhibitors appear effective in several rare disorders, but their value in increasing adult height in early pubertal boys with GH deficiency or idiopathic short stature is uncertain. A trial with a C-natriuretic peptide analog offers hope for children with achondroplasia. PMID:26051296

  10. Cytogenetic and Molecular Genetic Characterization of Children with Short Stature

    PubMed Central

    HOVNIK, Tinka; ŠMIGOC SCHWEIGER, Darja; KOTNIK, Primož; KOVAČ, Jernej; BATTELINO, Tadej; TREBUŠAK PODKRAJŠEK, Katarina

    2015-01-01

    Background The deficiency of SHOX gene (short stature homeobox-containing gene) has been recognized as the most frequent monogenetic cause of short stature. SHOX gene has been associated with short stature in Turner syndrome and Leri Weill dyschondrosteosis as well with non-syndromic idiopathic short stature. The aim of this study was to determine the frequency of SHOX deletions and mutations in a cohort of Slovenian children with short stature, and to delineate indications for routine SHOX gene mutation screening. Methods and results 40 selected subjects with idiopathic short stature were screened for entire SHOX gene deletion and for mutations in the SHOX gene coding region (exon 2 to 6), together with sequences flanking the exon-intron boundaries. FISH analysis on metaphase and interphase spreads revealed no entire gene deletion. Additionally, no pathogenic point mutations or smaller deletion/duplications were identified in this study group. Conclusions SHOX gene deletions and point mutations are not a common cause of idiopathic short stature in a cohort of Slovenian children with short stature. Therefore, the frequency of SHOX mutations must be much lower as expected based on the reported data.

  11. Challenges in the Management of Short Stature.

    PubMed

    Argente, Jesús

    2016-01-01

    Human growth, from fetal life to adolescence, is dynamic and a good marker of health. Growth is a complex process influenced by genetic, hormonal, nutritional and environmental factors, both pre- and postnatally. To date, no international agreement regarding normal height has been established. Auxological parameters are fundamental to investigate potential short stature (SS), either with a known diagnosis, e.g. disproportionate or proportionate, prenatal and/or postnatal onset, or an unknown diagnosis, i.e. idiopathic SS. The incidence/prevalence of SS is difficult to establish. The measurement of choice in children aged <2 years is length, while in those >2 years of age it is height. A number of monogenic diseases that lead to proportionate SS due to either isolated growth hormone deficiency, multiple pituitary hormone deficiency, growth hormone insensitivity, primary acid-labile subunit deficiency, primary IGF-1 deficiency, IGF-1 resistance, primary IGF-2 deficiency or primary protease deficiency have been discovered in the last 30 years. In addition, the Nosology and Classification of Genetic Skeletal Disorders revised in 2015 includes 436 conditions, with a number of genes of 364. A practical algorithm for the evaluation of SS as well as therapeutic options are discussed. PMID:26649429

  12. Short stature as a possible etiological factor in anorexia nervosa.

    PubMed

    Brinch, M; Manthorpe, T

    1987-09-01

    The 21st case of concurrence of anorexia nervosa (AN) and gonadal dysgenesis (GD) or Turners syndrome is presented together with two more cases of AN in girls of short stature, but with normal chromosomes. The concurrence of AN and GD in the Danish population over a 10 year period is found not to be beyond the expected frequency. The possibility of low stature as such as an etiologic factor in AN is presented on the background of three cases. The same hypothesis has been suggested previously, but we cannot support the view of short stature as a common condition in AN patients premorbidly. PMID:3673661

  13. Copy number variants in patients with short stature

    PubMed Central

    van Duyvenvoorde, Hermine A; Lui, Julian C; Kant, Sarina G; Oostdijk, Wilma; Gijsbers, Antoinet CJ; Hoffer, Mariëtte JV; Karperien, Marcel; Walenkamp, Marie JE; Noordam, Cees; Voorhoeve, Paul G; Mericq, Verónica; Pereira, Alberto M; Claahsen-van de Grinten, Hedi L; van Gool, Sandy A; Breuning, Martijn H; Losekoot, Monique; Baron, Jeffrey; Ruivenkamp, Claudia AL; Wit, Jan M

    2014-01-01

    Height is a highly heritable and classic polygenic trait. Recent genome-wide association studies (GWAS) have revealed that at least 180 genetic variants influence adult height. However, these variants explain only about 10% of the phenotypic variation in height. Genetic analysis of short individuals can lead to the discovery of novel rare gene defects with a large effect on growth. In an effort to identify novel genes associated with short stature, genome-wide analysis for copy number variants (CNVs), using single-nucleotide polymorphism arrays, in 162 patients (149 families) with short stature was performed. Segregation analysis was performed if possible, and genes in CNVs were compared with information from GWAS, gene expression in rodents' growth plates and published information. CNVs were detected in 40 families. In six families, a known cause of short stature was found (SHOX deletion or duplication, IGF1R deletion), in two combined with a de novo potentially pathogenic CNV. Thirty-three families had one or more potentially pathogenic CNVs (n=40). In 24 of these families, segregation analysis could be performed, identifying three de novo CNVs and nine CNVs segregating with short stature. Four were located near loci associated with height in GWAS (ADAMTS17, TULP4, PRKG2/BMP3 and PAPPA). Besides six CNVs known to be causative for short stature, 40 CNVs with possible pathogenicity were identified. Segregation studies and bioinformatics analysis suggested various potential candidate genes. PMID:24065112

  14. Copy number variants in patients with short stature.

    PubMed

    van Duyvenvoorde, Hermine A; Lui, Julian C; Kant, Sarina G; Oostdijk, Wilma; Gijsbers, Antoinet C J; Hoffer, Maritte J V; Karperien, Marcel; Walenkamp, Marie J E; Noordam, Cees; Voorhoeve, Paul G; Mericq, Vernica; Pereira, Alberto M; Claahsen-van de Grinten, Hedi L; van Gool, Sandy A; Breuning, Martijn H; Losekoot, Monique; Baron, Jeffrey; Ruivenkamp, Claudia A L; Wit, Jan M

    2014-05-01

    Height is a highly heritable and classic polygenic trait. Recent genome-wide association studies (GWAS) have revealed that at least 180 genetic variants influence adult height. However, these variants explain only about 10% of the phenotypic variation in height. Genetic analysis of short individuals can lead to the discovery of novel rare gene defects with a large effect on growth. In an effort to identify novel genes associated with short stature, genome-wide analysis for copy number variants (CNVs), using single-nucleotide polymorphism arrays, in 162 patients (149 families) with short stature was performed. Segregation analysis was performed if possible, and genes in CNVs were compared with information from GWAS, gene expression in rodents' growth plates and published information. CNVs were detected in 40 families. In six families, a known cause of short stature was found (SHOX deletion or duplication, IGF1R deletion), in two combined with a de novo potentially pathogenic CNV. Thirty-three families had one or more potentially pathogenic CNVs (n=40). In 24 of these families, segregation analysis could be performed, identifying three de novo CNVs and nine CNVs segregating with short stature. Four were located near loci associated with height in GWAS (ADAMTS17, TULP4, PRKG2/BMP3 and PAPPA). Besides six CNVs known to be causative for short stature, 40 CNVs with possible pathogenicity were identified. Segregation studies and bioinformatics analysis suggested various potential candidate genes. PMID:24065112

  15. Chromosome abnormalities in Indonesian patients with short stature

    PubMed Central

    2012-01-01

    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. PMID:22863325

  16. Idiopathic Short Stature: Conundrums of Definition and Treatment

    PubMed Central

    Rosenbloom, Arlan L.

    2009-01-01

    Children with idiopathic short stature (ISS) are statistically defined by height SDS < ?2 for their bone age and should be distinguished from children with familial short stature for whom height SDS corresponds to mean parental SDS and from the most common explanation for short stature referred to pediatric endocrinologists, constitutional delay in growth and maturation (CDGM), in which there is normal height for bone age and predicted normal adult stature. Low IGF-I levels reported in ISS may be the result of subtle undernutrition or reference to standards appropriate for chronologic age but not osseous maturation in CDGM inappropriately labeled as ISS. While growth hormone (GH) treatment of ISS may add 4-5 cm to adult height, meta-analysis indicates that there is no documented evidence that such treatment improves health related quality of life or psychological adaptation. Thus, the estimated cost of US$52 000/inch gained is difficult to justify. Absence of data regarding efficacy of the use of IGF-I for treatment of ISS has been noted in a recent consensus statement from the North American and European pediatric endocrinology societies. This report further emphasizes the importance of discouraging the expectation that taller stature from GH treatment will improve quality of life. PMID:19956707

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

    MedlinePlus

    ... Conditions SHORT syndrome short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay Enable Javascript to ... Close All Description Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay , commonly known by ...

  18. MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature.

    PubMed

    Wit, Jan M; Oostdijk, Wilma; Losekoot, Monique; van Duyvenvoorde, Hermine A; Ruivenkamp, Claudia A L; Kant, Sarina G

    2016-04-01

    The fast technological development, particularly single nucleotide polymorphism array, array-comparative genomic hybridization, and whole exome sequencing, has led to the discovery of many novel genetic causes of growth failure. In this review we discuss a selection of these, according to a diagnostic classification centred on the epiphyseal growth plate. We successively discuss disorders in hormone signalling, paracrine factors, matrix molecules, intracellular pathways, and fundamental cellular processes, followed by chromosomal aberrations including copy number variants (CNVs) and imprinting disorders associated with short stature. Many novel causes of GH deficiency (GHD) as part of combined pituitary hormone deficiency have been uncovered. The most frequent genetic causes of isolated GHD are GH1 and GHRHR defects, but several novel causes have recently been found, such as GHSR, RNPC3, and IFT172 mutations. Besides well-defined causes of GH insensitivity (GHR, STAT5B, IGFALS, IGF1 defects), disorders of NFκB signalling, STAT3 and IGF2 have recently been discovered. Heterozygous IGF1R defects are a relatively frequent cause of prenatal and postnatal growth retardation. TRHA mutations cause a syndromic form of short stature with elevated T3/T4 ratio. Disorders of signalling of various paracrine factors (FGFs, BMPs, WNTs, PTHrP/IHH, and CNP/NPR2) or genetic defects affecting cartilage extracellular matrix usually cause disproportionate short stature. Heterozygous NPR2 or SHOX defects may be found in ∼3% of short children, and also rasopathies (e.g., Noonan syndrome) can be found in children without clear syndromic appearance. Numerous other syndromes associated with short stature are caused by genetic defects in fundamental cellular processes, chromosomal abnormalities, CNVs, and imprinting disorders. PMID:26578640

  19. Hyperphagic short stature: A case report and review of literature

    PubMed Central

    Jagtap, Varsha S.; Sarathi, Vijaya; Lila, Anurag R.; Bukan, Amol P.; Bandgar, Tushar; Menon, Padmavathy; Shah, Nalini S.

    2012-01-01

    A 5½-year-old adopted girl was referred to us in view of short stature. After ruling out systemic illness, she was evaluated for growth hormone deficiency (GHD) by stimulation tests. The peak value was 3.47 ng/ml. She was then started on growth hormone (GH). At the end of 6 months of GH therapy, her height velocity was only 3 cm/year. There was a lack of attachment between the mother and the child. She had history of hyperphagia, stealing, and hoarding food. Psychiatry consultation confirmed that the child had appetite disorder, and hence was diagnosed as hyperphagic short stature (HSS). The girl and her parents are undergoing psychiatric therapy for the same. Psychosocial dwarfism seems to originate from serious disturbances in the mother–child relationship. These children mimic patients with GHD, but have poor response to GH therapy. This case underscores the importance of social environment in the growth of the individual. PMID:22837929

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

    PubMed Central

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

    2015-01-01

    Purpose Short stature is a very common reason for visits to pediatric endocrine clinics. It could be the first sign of an underlying disease. The purpose of this study is to investigate the etiologies and general characteristics of subjects who visited an outpatient clinic due to short stature. Methods We retrospectively reviewed the medical records of 3,371 patients who visited Severance Children's Hospital with the chief complaint of short stature from 2010 to 2012. Medical history, auxological data, and laboratory tests including bone age were collected and analyzed. Chromosome studies or combined pituitary function tests were performed if needed. Results Approximately 89.4% of the subjects with the chief complaint of short stature who visited the outpatient clinic were of normal height, and only 10.6% of subjects were identified as having short stature. Of the subject of short stature, 44.7% were classified as having normal variant short stature; that is, familial short stature (23.0%), constitutional delay in growth (17.7%), and mixed form (3.9%). Pathological short stature was found in 193 subjects (54.2%). Among pathological short stature, most common etiology was growth hormone deficiency (GHD) (38.9%). Conclusion A majority of children had a normal height. Among children with short stature, pathological short stature and normal variants occupied a similar percentage. GHD was the most common cause of pathological short stature and found in about 20% of the children with short stature. In pathological short stature, the height, height velocity, and IGF-1 level were lower than in normal variants. PMID:25883925

  1. Pharmacological interventions for short stature: pros and cons.

    PubMed

    Rosenfeld, Ron G

    2013-01-01

    Although growth hormone (GH) therapy is virtually always effective in accelerating growth and restoring height potential to children with GH deficiency (GHD), the expansion of its use to a wide variety of other clinical disorders associated with short stature has resulted in considerable ethical and cost-benefit issues. Logic would demand that therapy should either be restricted to true 'replacement', thereby limiting its use to cases of unequivocal GHD, or treatment should be considered as a legitimate 'enhancement', and be available to all children with significant short stature. Consideration of the latter option requires a careful look at issues surrounding efficacy (both in terms of stature and any perceived disability resulting therefrom), cost and potential adverse effects. Similar concerns involve treatment with insulin-like growth factor-I and any related growth-augmenting therapy. To date, safety issues have been addressed through pharmaceutical-sponsored postmarketing surveillance studies. While of definite use, such investigations also have significant limitations, especially in addressing long-term concerns. The possibility of lifespan cohort studies, with surveillance of all GH recipients throughout life and comparison with data from appropriate controls, should be considered. PMID:23502156

  2. Aromatase Inhibitors in the Treatment of Short Stature.

    PubMed

    Hero, Matti

    2016-01-01

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

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

    PubMed

    Hasegawa, Kosei; Tanaka, Hiroyuki

    2014-12-01

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

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

    PubMed

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

    2016-01-01

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

  5. 45,X/47,XXX Mosaicism and Short Stature.

    PubMed

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

    2015-01-01

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

  6. 45,X/47,XXX Mosaicism and Short Stature

    PubMed Central

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

    2015-01-01

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

  7. Unresolving Short Stature in a Possible Case of Mucopolysccharidosis

    PubMed Central

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

    2014-01-01

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

  8. Towards identification of molecular mechanisms of short stature

    PubMed Central

    2013-01-01

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

  9. Karyotype/phenotype correlation in females with short stature.

    PubMed

    Temtamy, S A; Ghali, I; Salam, M A; Hussein, F H; Ezz, E H; Salah, N

    1992-03-01

    We studied 60 females who presented with short stature. The main aim was to determine the effect of karyotype variation on phenotype. A somatic feature score was calculated for each case depending on the presence of 17 clinical somatic changes known to occur in Turner syndrome. Karyotype studies showed the following results: 45,X (n = 22): 46,XX (n = 11); 45,X/46,XX (n = 10); 46,XX/46,Xi(Xq) (n = 4); 46,XX/46,XXq- (n = 3); 46,XX/46,XXp- (n = 2); 46,Xi(Xq) (n = 2); 45,X/46,Xi(Xq) (n = 2); 46,XXp- (n = 1); 46,XX/47,XXX (n = 1); 46,XXq- (n = 1); 45,X/46,X(ry) (n = 1). Karyotype/phenotype correlation showed the gradation of severity of clinical phenotype to be related to the number of X chromosomes. The highest somatic scores and the most severe clinical manifestations were noted in cases of pure 45,X Turner and the mildest in 46,XX/46,XX(str) mosaics or pure 46,XX, including hypergonadotrophic hypogonadism. Our findings revealed a dosage effect of the X chromosome on phenotype, thus confirming that partial X chromosome inactivation modifies somatic and pubertal development. Our results also support both the additive and interactive hypotheses of karyotype/phenotype correlation. PMID:1563089

  10. The Short Stature in Atopic Dermatitis Patients: Are Atopic Children Really Small for Their Age?

    PubMed Central

    Park, Mi Kyung; Park, Kui Young; Li, Kapsok; Hong, Chang Kwun

    2013-01-01

    Background Short stature is sometimes seen in children with atopic dermatitis (AD); however, the topic has never been studied systematically. Objective: The aim of this study was to show whether AD itself affects stature in children and to evaluate the influence of other relevant factors such as genetic background, diet restrictions, and sleep disturbance on the stature of children with AD. Objective The aim of this study was to show whether AD itself affects stature in children and to evaluate the influence of other relevant factors such as genetic background, diet restrictions, and sleep disturbance on the stature of children with AD. Methods The study population included Korean children 7 to 8 years of age who live in one district of Seoul, Korea. We used a questionnaire as an investigating tool to survey genetic backgrounds, environmental factors, and comorbidities. Student's t-test and linear regression were employed for statistical analysis. Results In univariate analysis, the average stature in the AD group was short compared with the normal control group. Parental stature, dietary habit, and sleep patterns were also relevant factors with respect to stature. However, in multivariate analysis, AD itself had no influence on stature. Significant correlations were found for such factors as parental height, sleep disturbance, presence of asthma, and dietary restrictions, in decreasing magnitude. Conclusion These results suggest that AD itself may not be the causative factor for short stature in children with AD. Therefore, consideration of other relevant factors related to short stature in patients with AD will be important for the proper management of the disease. PMID:23467580

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

    PubMed Central

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

    2013-01-01

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

  12. Concentration of Selected Metals in Whole Blood, Plasma, and Urine in Short Stature and Healthy Children.

    PubMed

    Klatka, Maria; Błażewicz, Anna; Partyka, Małgorzata; Kołłątaj, Witold; Zienkiewicz, Ewa; Kocjan, Ryszard

    2015-08-01

    The short stature in children is defined as height below the third percentile from the mean for age and gender. This problem affects about 3% of young people. More than 20,000 children in Poland have problems with short stature. There is not much information available in the literature on the study of metals in blood, plasma, and urine in children with short stature. The study was conducted on a group of 56 short stature Polish children and 35 healthy children. The content of metals was determined using high-performance ion chromatography and inductively coupled plasma mass spectrometry methods. The study revealed significant differences between the content of selected metals in body fluids between a short stature group and healthy children. There were significant differences in the Fe, Cu, and Ni concentrations between the groups with respect to the hormonal therapy. There were no significant differences between the groups with respect to the area where the children lived. The results showed no statistically significant differences between metal concentration and age, body weight, and height. The study demonstrated statistically significant differences between the content of metals in body fluids in short stature children compared with the healthy children. It seems that the difference in the concentration of certain elements may also be the result of growth hormone therapy and the interaction between various metals. Both the alterations in the content of metals and their mutual interactions may play an important role in the pathogenesis of short stature children. PMID:25855373

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

    PubMed

    Rogol, Alan D; Hayden, Gregory F

    2014-05-01

    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

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

    PubMed

    Farrell, S A

    1997-10-01

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

  15. Mental retardation, epilepsy, short stature, and skeletal dysplasia: confirmation of the Gurrieri syndrome.

    PubMed

    Battaglia, A; Orsitto, E; Gibilisco, G

    1996-03-29

    We report on a male with severe mental retardation, epilepsy, short stature, and skeletal dysplasia. The syndrome was first delineated by Gurrieri et al. in 1992 [Am J Med Genet 44:315-320]. This case seems to confirm the existence of the Gurrieri syndrome. PMID:8882779

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

    ERIC Educational Resources Information Center

    Lichota, Malgorzata

    2008-01-01

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

  17. Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature

    PubMed Central

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

    2015-01-01

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

  18. Short stature--the role of intelligence in psychosocial adjustment.

    PubMed Central

    Gilmour, J; Skuse, D

    1996-01-01

    Short children are often described as having psychosocial problems. These reports may be inaccurate as former studies have relied largely on parental report. Psychosocial functioning of short children was assessed with the aim of using them and their peers as informants. Twenty two short (mean (SD) height -2.53 (0.28) SD score) prepubertal children aged between 6 and 11 years were recruited from growth clinics. Comparison children were recruited from each case child's class at school. Cognitive and psychosocial functioning was assessed. Peer relationships were measured using sociometry. There were no significant group differences in terms of peer acceptance, self perception, and social competence. Although cases described themselves as receiving less social support from teachers, no differences were evident in other areas of social support. Little evidence was found to suggest clinic referred prepubertal short children are psychosocially maladjusted. Further analysis revealed cognitive ability was a better predictor than height for most aspects of behavioural and emotional adjustment. PMID:8813866

  19. The use of somatropin (recombinant growth hormone) in children of short stature.

    PubMed

    Mehta, Ameeta; Hindmarsh, Peter C

    2002-01-01

    The availability of somatropin [recombinant human growth hormone (GH)] has revolutionized the treatment of short stature resulting from GH deficiency. It is also widely used as an adjunct in the treatment of other disorders which do not fit the definition of classic GH deficiency, such as intrauterine growth restriction, Turner syndrome, healthy children with short stature and skeletal dysplasias. The widespread use and ready availability of GH treatment has prompted questions about its tolerability, rationality, and the psychological effects of long-term treatment, leading to several trials. Early treatment of GH deficiency will allow the child to reach his or her genetic potential, although there continues to be marked variability in the criteria used to diagnose the deficiency, and in the treatment schedule, especially during puberty. Treatment has also been shown to have a beneficial effect on growth in children with chronic renal failure, with no adverse effects on the renal function. There are, however, no long-term data to determine final height, or randomized controlled studies to justify routine use of GH in conditions such as intrauterine growth restriction. It remains controversial in conditions such as Turner syndrome and achondroplasia, where the response to treatment is only moderate. Healthy children with short stature have not been shown to have a psychological disadvantage, again proving difficult to justify prolonged GH treatment for idiopathic short stature. Meticulous monitoring, long-term follow-up to adult or near-adult final height, and well-defined endpoints of treatment need to be better clarified. The metabolic effects of treatment on the patient's lipid profile, bone mineral density, and muscle mass need careful documentation, especially with the high doses used in an already susceptible population such as low birthweight children and those with Turner syndrome. Lastly, the psychosocial impact of GH treatment, financial implications, and cost efficacy of treatment in an ever-increasing list of indications should be taken into consideration for rationalizing its use in future. PMID:11817985

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

    PubMed Central

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

    2014-01-01

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

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

    PubMed Central

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

    2014-01-01

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

  2. Short stature

    MedlinePlus

    ... may be a symptom of a medical condition. Bone or skeletal disorders, such as: Rickets Achondroplasia Chronic diseases, such as: Asthma Celiac disease Congenital heart disease Cushing disease Diabetes Hypothyroidism ...

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

    PubMed

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

    2015-06-01

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

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

    PubMed Central

    Hwang, Jun-Won

    2015-01-01

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

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

    PubMed

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

    2015-11-01

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

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

    PubMed Central

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

    2015-01-01

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

  7. RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly.

    PubMed

    Mumtaz, Sara; Y?ld?z, Esra; Jabeen, Saliha; Khan, Amjad; Tolun, Asl?han; Malik, Sajid

    2015-12-01

    Primary microcephaly is clinically variable and genetically heterogeneous. Four phenotypically distinct types of autosomal recessive microcephaly syndromes are due to different RBBP8 mutations. We report on a consanguineous Pakistani family with homozygous RBBP8 mutation c.1808_1809delTA (p.Ile603Lysfs*7) manifesting microcephaly and a distinct combination of skeletal, limb and ectodermal defects, mild intellectual disability, minor facial anomalies, anonychia, disproportionate short stature and brachydactyly, and additionally talipes in one patient. 2015 Wiley Periodicals, Inc. PMID:26333564

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

    PubMed Central

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

    2015-01-01

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

  9. SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short Stature.

    PubMed

    Fukami, Maki; Seki, Atsuhito; Ogata, Tsutomu

    2016-04-01

    SHOX in the short arm pseudoautosomal region (PAR1) of sex chromosomes is one of the major growth genes in humans. SHOX haploinsufficiency results in idiopathic short stature and Léri-Weill dyschondrosteosis and is associated with the short stature of patients with Turner syndrome. The SHOX protein likely controls chondrocyte apoptosis by regulating multiple target genes including BNP,Fgfr3, Agc1, and Ctgf. SHOX haploinsufficiency frequently results from deletions and duplications in PAR1 involving SHOX exons and/or the cis-acting enhancers, while exonic point mutations account for a small percentage of cases. The clinical severity of SHOX haploinsufficiency reflects hormonal conditions rather than mutation types. Growth hormone treatment seems to be beneficial for cases with SHOX haploinsufficiency, although the long-term outcomes of this therapy require confirmation. Future challenges in SHOX research include elucidating its precise function in the developing limbs, identifying additional cis-acting enhancers, and determining optimal therapeutic strategies for patients. PMID:27194967

  10. Short stature with umbilical hernia - Not always due to cretinism: A report of two cases.

    PubMed

    Gadve, Sharvil S; Sarma, Dipti; Saikia, Uma K

    2012-05-01

    A 7-year-old boy presented with umbilical hernia and short stature. Growth retardation, recurrent upper respiratory tract infections and delayed developmental milestones were present from infancy. Umbilical hernia was diagnosed at the age of 5 years. On examination, he had short-trunk dwarfism, large head circumference, coarse facial features, joint stiffness, hepatosplenomegaly, and mild mental retardation. He had normal biochemical parameters, thyroid function tests and arterial blood gas analysis. Radiological evaluation showed that the child had Hunter syndrome with findings of J-shaped sellaturcica, proximal bulleting of metacarpals, spatulated ribs and anterior beaking of lumbar vertebrae. The second case was a 6-year-old girl with umbilical hernia, short stature, normal biochemistry and radiological findings of mucopolysaccharidosis. However, she also had corneal opacity; confirmed by slit-lamp examination, which led to the diagnosis of Hurler-Scheie syndrome. Enzymatic studies could not be done in both the cases, as they are not available at most centers. PMID:22629520

  11. X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.

    PubMed

    Møller, R S; Jensen, L R; Maas, S M; Filmus, J; Capurro, M; Hansen, C; Marcelis, C L M; Ravn, K; Andrieux, J; Mathieu, M; Kirchhoff, M; Rødningen, O K; de Leeuw, N; Yntema, H G; Froyen, G; Vandewalle, J; Ballon, K; Klopocki, E; Joss, S; Tolmie, J; Knegt, A C; Lund, A M; Hjalgrim, H; Kuss, A W; Tommerup, N; Ullmann, R; de Brouwer, A P M; Strømme, P; Kjaergaard, S; Tümer, Z; Kleefstra, T

    2014-05-01

    Submicroscopic duplications along the long arm of the X-chromosome with known phenotypic consequences are relatively rare events. The clinical features resulting from such duplications are various, though they often include intellectual disability, microcephaly, short stature, hypotonia, hypogonadism and feeding difficulties. Female carriers are often phenotypically normal or show a similar but milder phenotype, as in most cases the X-chromosome harbouring the duplication is subject to inactivation. Xq28, which includes MECP2 is the major locus for submicroscopic X-chromosome duplications, whereas duplications in Xq25 and Xq26 have been reported in only a few cases. Using genome-wide array platforms we identified overlapping interstitial Xq25q26 duplications ranging from 0.2 to 4.76 Mb in eight unrelated families with in total five affected males and seven affected females. All affected males shared a common phenotype with intrauterine- and postnatal growth retardation and feeding difficulties in childhood. Three had microcephaly and two out of five suffered from epilepsy. In addition, three males had a distinct facial appearance with congenital bilateral ptosis and large protruding ears and two of them showed a cleft palate. The affected females had various clinical symptoms similar to that of the males with congenital bilateral ptosis in three families as most remarkable feature. Comparison of the gene content of the individual duplications with the respective phenotypes suggested three critical regions with candidate genes (AIFM1, RAB33A, GPC3 and IGSF1) for the common phenotypes, including candidate loci for congenital bilateral ptosis, small head circumference, short stature, genital and digital defects. PMID:24326587

  12. The Meier-Gorlin syndrome, or ear-patella-short stature syndrome, in sibs.

    PubMed

    Loeys, B L; Lemmerling, M M; Van Mol, C E; Leroy, J G

    1999-05-01

    The Meier-Gorlin syndrome, first described by Meier and Rothschild [1959: Helv Paediatr Acta 14:213-216] and further delineated by Gorlin et al. [1975: A Selected Miscellany, p 39-50], is characterized by short stature, slender body build, craniofacial anomalies, microtia, delayed skeletal development, hypogonadism, and absence of the patellae. It has also been called the ear-patella-short stature syndrome [Boles et al., 1994: Clin Dysmorphol 3:207-214]. We report on two brothers with Meier-Gorlin syndrome, the younger of whom was more severely affected. Both patients had severe deafness and congenital labyrinthine anomalies, which have not previously been described as features of this syndrome. The neuromotor and mental development of these patients was adversely affected by late diagnosis, deafness, and their sociocultural environment, but their cognitive ability fell within the range observed in other Meier-Gorlin patients. Neuroradiographic imaging and functional inner ear investigations are recommended in the diagnostic workup of this rather specific, probably autosomal recessive mental retardation syndrome with multiple congenital anomalies. PMID:10213048

  13. SHOX gene and conserved noncoding element deletions/duplications in Colombian patients with idiopathic short stature

    PubMed Central

    Sandoval, Gloria Tatiana Vinasco; Jaimes, Giovanna Carola; Barrios, Mauricio Coll; Cespedes, Camila; Velasco, Harvy Mauricio

    2014-01-01

    SHOX gene mutations or haploinsufficiency cause a wide range of phenotypes such as Leri Weill dyschondrosteosis (LWD), Turner syndrome, and disproportionate short stature (DSS). However, this gene has also been found to be mutated in cases of idiopathic short stature (ISS) with a 3–15% frequency. In this study, the multiplex ligation-dependent probe amplification (MLPA) technique was employed to determine the frequency of SHOX gene mutations and their conserved noncoding elements (CNE) in Colombian patients with ISS. Patients were referred from different centers around the county. From a sample of 62 patients, 8.1% deletions and insertions in the intragenic regions and in the CNE were found. This result is similar to others published in other countries. Moreover, an isolated case of CNE 9 duplication and a new intron 6b deletion in another patient, associated with ISS, are described. This is one of the first studies of a Latin American population in which deletions/duplications of the SHOX gene and its CNE are examined in patients with ISS. PMID:24689071

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

    PubMed

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

    2015-03-01

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

  15. To determine frequency of etiological factors in short statured patients presenting at an endocrine clinic of a tertiary care hospital

    PubMed Central

    Lashari, Shazia Kulsom; Korejo, Hussain Bux; Memon, Yasmeen Memon

    2014-01-01

    Objective: To determine the frequency of etiological factors in short statured patients presenting at endocrine clinic of National Institute of Child Health, Karachi. Methods: This descriptive cross sectional study was conducted at Endocrine clinic of National Institute of Child Health, Karachi. One hundred children (48 boys and 52 girls) aged 3-15 years (mean 9.9±3.4) with short stature from January 2007 to July 2007 were evaluated during that period. Results: Constitutional growth delay (CGD) and familial short stature (FSS) were identified as the most common, 55% of all short stature cases. Non-endocrinal causes as a single entity was detected in 17 children. Most common etiological factors in order of frequency were normal variant of growth (CGD, FSS), Hypothyroidism, Growth Hormone deficiency (GHD), and Celiac disease. GHD was found in 13% of total cases and it comprises 44% among endocrinal causes. Boys outnumbered girls with ratio of 2.7:1 (p<0.05). Conclusion: Most common cause of short stature was normal variants of growth as a group. Children with height falling below 0.4th percentile are more likely to have pathological cause. PMID:25097532

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

    PubMed Central

    2014-01-01

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

  17. Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination.

    PubMed

    Clayton, Peter E; Hanson, Dan; Magee, Lucia; Murray, Philip G; Saunders, Emma; Abu-Amero, Sayeda N; Moore, Gudrun E; Black, Graeme C M

    2012-09-01

    3-M syndrome is an autosomal recessive primordial growth disorder characterized by small birth size and post-natal growth restriction associated with a spectrum of minor anomalies (including a triangular-shaped face, flat cheeks, full lips, short chest and prominent fleshy heels). Unlike many other primordial short stature syndromes, intelligence is normal and there is no other major system involvement, indicating that 3-M is predominantly a growth-related condition. From an endocrine perspective, serum GH levels are usually normal and IGF-I normal or low, while growth response to rhGH therapy is variable but typically poor. All these features suggest a degree of resistance in the GH-IGF axis. To date, mutations in three genes CUL7, OBSL1 and CCDC8 have been shown to cause 3-M. CUL7 acts an ubiquitin ligase and is known to interact with p53, cyclin D-1 and the growth factor signalling molecule IRS-1, the link with the latter may contribute to the GH-IGF resistance. OBSL1 is a putative cytoskeletal adaptor that interacts with and stabilizes CUL7. CCDC8 is the newest member of the pathway and interacts with OBSL1 and, like CUL7, associates with p53, acting as a co-factor in p53-medicated apoptosis. 3-M patients without a mutation have also been identified, indicating the involvement of additional genes in the pathway. Potentially damaging sequence variants in CUL7 and OBSL1 have been identified in idiopathic short stature (ISS), including those born small with failure of catch-up growth, signifying that the 3-M pathway could play a wider role in disordered growth. PMID:22624670

  18. Short Stature: Is It a Psychosocial Problem and Does Changing Height Matter?

    PubMed

    Sandberg, David E; Gardner, Melissa

    2015-08-01

    Some proponents of recombinant human growth hormone (rhGH) treatment in growth hormone-sufficient children cite height, as an isolated physical characteristic, as being associated with psychosocial morbidity. Others question the reliability of the evidence underpinning the quality-of-life rationale for treatment as well as the bioethics of rhGH treatment. The following questions are addressed: (1) Is short stature an obstacle to positive psychosocial adjustment? and (2) Does increasing height with rhGH treatment make a difference to the person's psychosocial adaptation and quality of life? Three clinical case examples are used to illustrate the complexities associated with decision-making surrounding rhGH use. PMID:26210627

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

    PubMed Central

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

    2013-01-01

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

  20. 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

    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

    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

  1. Associations between Psychological Problems and Quality of Life in Pediatric Short Stature from Patients’ and Parents’ Perspectives

    PubMed Central

    Bullinger, Monika; Sommer, Rachel; Rohenkohl, Anja Christine; Bernardino Da Silva, Neuza Maria

    2016-01-01

    Short stature has been associated with psychosocial impairments, but whether treatments and achieved height impact on health-related quality of life (HrQoL) and psychological functioning of children/adolescents is still controversial. This study aimed to examine the effects of height deviation and treatment status on psychosocial adaptation outcomes and to identify clinical and psychosocial determinants of internalizing/externalizing problems in a large cohort of short statured children/adolescents from seven European countries. Participants were 345 children aged 8–18 years with a clinical diagnosis of short stature and 421 parents of 4–18 year-old patients. Children and parents reported on psychological problems (Strengths and Difficulties Questionnaire), generic (KIDSCREEN) and condition-specific HrQoL (QoLISSY). According to analyses of covariance, children/adolescents with current short stature presented more parent-reported internalizing problems and lower self- and parent-reported condition-specific HrQoL, compared to patients with an achieved height above -2SD. Treated children self-reported better HrQoL than the untreated group. Hierarchical regression analysis showed that, rather than height–related clinical variables, children’s sex, younger age and poorer HrQoL were the best predictors of psychological problems, explaining 39% of the variance in patient- and 42% in parent-reported internalizing problems, and 22% of the variance in patient- and 24% in parent-reported externalizing problems. Treatment status also moderated the negative links between patient-reported HrQoL and internalizing problems, explaining 2% of additional variance. These results suggest that children with current short stature are at greater risk for internalizing problems. Routine assessment of HrQoL in pediatric healthcare may help identify children for referral to specialized psychological assessment and intervention. PMID:27097033

  2. Effects of growth hormone therapy on circadian osteocalcin rhythms in idiopathic short stature.

    PubMed

    Markowitz, M E; DiMartino-Nardi, J; Gasparini, F; Fishman, K; Rosen, J F; Saenger, P

    1989-08-01

    The effects of GH administration on the circadian osteocalcin (Oc) rhythm were determined in four prepubertal children with idiopathic short stature (height, less than 5th percentile; growth velocity, less than 50th percentile for age). Each child underwent 24-h sequential blood sampling on three occasions: immediately before the initiation of GH treatment, 6 months later, and at the end of 12 months of treatment. The growth rate increased more than 50% over baseline in three of the four children during at least one of the 6-month periods. Insulin-like growth factor-I levels increased during treatment in all of the children. Twenty-four-hour Oc levels increased on 7 of the 8 treatment days evaluated. When mean 24-h Oc patterns for each of the 3 study days were derived by averaging across individual subjects at each time point and then compared, we noted an upward shift in the entire pattern during treatment (t = 13.2 at P less than 0.001 and t = 5.9 at P less than 0.001 for 6 and 12 month comparisons vs. the pretreatment day, respectively). This was more easily appreciated after the data were smoothed using the method of running means. There was, in addition, a progressive improvement in the shape of the Oc pattern compared to a normative model derived from a study of healthy adult men. The correlation between the model and the pre-GH day was 0.46, that between the model and the 6 months of GH day was 0.77, and that between the model and the 12 months of GH day was 0.96. Cross-correlation analyses showed that the peak correlation between the 2 treatment days and the model occurred at zero lag. In contrast, the peak correlation between the pre-GH day and the model or the pre-GH day and either of the 2 treatment days occurred when the pre-GH series was lagged by 2-3 h. Thus, an additional finding is the synchronization of the Oc series that occurred during treatment. We conclude that GH treatment increases Oc concentrations in children with idiopathic short stature by affecting its circadian rhythm. This rise in Oc values may not necessarily reflect an increase in growth velocity. PMID:2787800

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

    PubMed Central

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

    2012-01-01

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

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

    PubMed

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

    2012-08-01

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

  5. Tbx4 Interacts With the Short Stature Homeobox Gene Shox2 in Limb Development

    PubMed Central

    Glaser, Anne; Arora, Ripla; Hoffmann, Sandra; Li, Li; Gretz, Norbert; Papaioannou, Virginia E.; Rappold, Gudrun A.

    2014-01-01

    Background The short stature homeodomain transcription factors SHOX and SHOX2 play key roles in limb formation. To gain more insight into genes regulated by Shox2 during limb development, we analyzed expression profiles of WT and Shox2−/− mouse embryonic limbs and identified the T-Box transcription factor Tbx4 as a potential downstream target. Tbx4 is known to exert essential functions in skeletal and muscular hindlimb development. In humans, haploinsufficiency of TBX4 causes small patella syndrome, a skeletal dysplasia characterized by anomalies of the knee, pelvis, and foot. Results Here, we demonstrate an inhibitory regulatory effect of Shox2 on Tbx4 specifically in the forelimbs. We also show that Tbx4 activates Shox2 expression in fore- and hindlimbs, suggesting Shox2 as a feedback modulator of Tbx4. Using EMSA studies, we find that Tbx4/TBX4 is able to bind to distinct T-box binding sites within the mouse and human Shox2/SHOX2 promoter. Conclusions Our data identifies Tbx4 as a novel transcriptional activator of Shox2 during murine fore- and hindlimb development. Tbx4 is also regulated by Shox2 specifically in the forelimb bud possibly via a feedback mechanism. These data extend our understanding of the role and regulation of Tbx4 and Shox2 in limb development and limb associated diseases. PMID:24347445

  6. Treatment of short stature and growth hormone deficiency in children with somatotropin (rDNA origin)

    PubMed Central

    Hardin, Dana S

    2008-01-01

    Somatotropin (growth hormone, GH) of recombinant DNA origin has provided a readily available and safe drug that has greatly improved management of children and adolescents with GH deficiency (GHD) and other disorders of growth. In the US and Europe, regulatory agencies have given approval for the use of GH in children and adults who meet specific criteria. However, clinical and ethical controversies remain regarding the diagnosis of GHD, dosing of GH, duration of therapy and expected outcomes. Areas which also require consensus include management of pubertal patients, transitioning pediatric patients to adulthood, management of children with idiopathic short stature and the role of recombinant IGF-1 in treatment. Additionally, studies have demonstrated anabolic benefits of GH in children who have inflammatory-based underlying disease and efficacy of GH in overcoming growth delays in people treated chronically with corticosteroids. These areas are open for possible new uses of this drug. This review summarizes current indications for GH use in children and discusses areas of clinical debate and potential anabolic uses in chronic illness. PMID:19707446

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

    PubMed

    Mauras, Nelly

    2011-10-01

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

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

    PubMed

    Mauras, Nelly

    2009-09-01

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

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

    PubMed Central

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

    2013-01-01

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

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

    PubMed Central

    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

    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. PMID:24955154

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

    PubMed Central

    Deprez, Pierre M. L.; Nichane, Miloud G.; Lengel, Benot G.; Rezshazy, Ren; Nyssen-Behets, Catherine

    2013-01-01

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

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

    PubMed Central

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

    2013-01-01

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

  13. Growth monitoring for short stature: update of a systematic review and economic model.

    PubMed Central

    Craig, D; Fayter, D; Stirk, L; Crott, R

    2011-01-01

    OBJECTIVES The aim of the project was to compare different screening rules and/or referral cut-offs for the identification of children with disorders of short stature. We undertook an update of a previous systematic review and economic model that addressed the same question. DATA SOURCES Sources searched included MEDLINE, EMBASE, Science Citation Index, Social Science Citation Index, Conference Proceedings Citation Index - Science/Social Science & Humanities, Cochrane Library 2009 Issue 4, Office of Health Economics Health Economic Evaluations Database, and the NHS Economic Evaluation Database. REVIEW METHODS The review was conducted as an update to our previous assessment in 2007. Searching covered January 2005 to November 2009 with no language or publication restrictions. Two reviewers examined full papers for relevance. Data extraction was conducted by one reviewer and independently checked by a second. In addition, searches were conducted to identify quality of life or utility papers to inform the economic evaluation. We developed a probabilistic decision analytic model to estimate the costs and quality-adjusted life-year (QALY) gains from the perspective of the UK NHS and personal social services. The model was a cohort model, assuming a homogeneous population of 5-year-olds at baseline. RESULTS One study was included in the systematic review. The study was not UK based, but had been identified in the brief as relevant to the UK setting. The study's authors examined the performance of a number of rules to determine sensitivity and specificity of referral for short stature in four patient groups and three reference groups in the Netherlands. They derived an algorithm for referral based on the optimal rules. No new studies were located that provided appropriate quality of life or utilities data for the economic model. The model was based on the previous assessment which was updated to better reflect current UK clinical practice. We compared two alternative monitoring strategies, one of which was based on the study identified in our systematic review (Grote strategy); the other was based on UK consensus (UK strategy). We identified that the UK strategy was the least effective and least costly, with a mean gain of 0.001 QALYs at a mean cost of £21. The Grote strategy was both more expensive and more effective, with a mean cost of £68 and a mean QALY gain of 0.042. The incremental cost-effectiveness ratio was £1144 per QALY gained. CONCLUSIONS This assessment contributes further knowledge, but does not provide definitive answers on how to deliver growth monitoring. In particular, we were unable to ascertain current practice in the UK for growth screening. Further, we were unable to evaluate through the use of identified studies and modelling an optimal referral cut-off and age at which to screen. We identified a number of research questions that would further inform referral strategies, which in summary would involve further primary and secondary data collection. FUNDING The National Institute for Health Research Health Technology Assessment programme. PMID:21356163

  14. SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis.

    PubMed

    Hirschfeldova, K; Solc, R; Baxova, A; Zapletalova, J; Kebrdlova, V; Gaillyova, R; Prasilova, S; Soukalova, J; Mihalova, R; Lnenicka, P; Florianova, M; Stekrova, J

    2012-01-10

    The aim of the study was to analyze frequency of SHOX gene defects and selected dysmorphic signs in patients of both idiopathic short stature (ISS) and Léri-Weill dyschondrosteosis (LWD), all derived from the Czech population. Overall, 98 subjects were analyzed in the study. Inclusion criteria were the presence of short stature (-2.0 SD), in combination with at least one of the selected dysmorphic signs for the ISS+ group; and the presence of Madelung deformity, without positive karyotyping for the LWD+ group. Each proband was analyzed by use of P018 MLPA kit, which covers SHOX and its regulatory sequences. Additionally, mutational analysis was done of the coding portions of the SHOX. Both extent and breakpoint localizations in the deletions/duplications found were quite variable. Some PAR1 rearrangements were detected, without obvious phenotypic association. In the ISS+ group, MLPA analysis detected four PAR1 deletions associated with a SHOX gene defect, PAR1 duplication with an ambiguous effect, and two SHOX mutations (13.7%). In the LWD+ group, MLPA analysis detected nine deletions in PAR1 region, with a deleterious effect on SHOX, first reported case of isolated SHOX enhancer duplication, and SHOX mutation (68.8%). In both ISS+ and LWD+ groups were positivity associated with a disproportionately short stature; in the ISS+ group, in combination with muscular hypertrophy. It seems that small PAR1 rearrangements might be quite frequent in the population. Our study suggests disproportionateness, especially in combination with muscular hypertrophy, as relevant indicators of ISS to be the effect of SHOX defect. PMID:22020182

  15. Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia

    PubMed Central

    Abidi, F E; Holloway, L; Moore, C A; Weaver, D D; Simensen, R J; Stevenson, R E; Rogers, R C; Schwartz, C E

    2013-01-01

    Background Mutations in the JARID1C (Jumonji AT-rich interactive domain 1C) gene were recently associated with X-linked mental retardation (XLMR). Mutations in this gene are reported to be one of the relatively more common causes of XLMR with a frequency of approximately 3% in males with proven or probable XLMR. The JARID1C protein functions as a histone 3 lysine 4 (H3K4) demethylase and is involved in the demethylation of H3K4me3 and H3K4me2. Methods Mutation analysis of the JARID1C gene was conducted in the following cohorts: probands from 23 XLMR families linked to Xp11.2, 92 males with mental retardation and short stature, and 172 probands from small XLMR families with no linkage information. Results Four novel mutations consisting of two missense mutations, p.A77T and p.V504M, and two frame shift mutations, p.E468fsX2 and p.R1481fsX9, were identified in males with mental retardation. Two of the mutations, p.V504M and p.E468fsX2, are located in the JmjC domain of the JARID1C gene where no previous mutations have been reported. Additional studies showed that the missense mutation, p.V504M, was a de novo event on the grandpaternal X chromosome of the family. Clinical findings of the nine affected males from the four different families included mental retardation (100%), short stature (55%), hyperreflexia (78%), seizures (33%) and aggressive behaviour (44%). The degree of mental retardation consisted of mild (25%), moderate (12%) and severe (63%). Conclusion Based on the clinical observations, male patients with mental retardation, short stature and hyperreflexia should be considered candidates for mutations in the JARID1C gene. PMID:18697827

  16. Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature.

    PubMed

    Bunyan, David J; Baffico, Maria; Capone, Lucia; Vannelli, Silvia; Iughetti, Lorenzo; Schmitt, Sébastien; Taylor, Emma-Jane; Herridge, Adam A; Shears, Deborah; Forabosco, Antonino; Coviello, Domenico A

    2016-04-01

    Leri-Weill dyschondrosteosis is a pseudoautosomal dominantly-inherited skeletal dysplasia ascribed to haploinsufficiency of the SHOX gene caused by deletions, point mutations, or partial duplications of the gene, or to heterozygous deletions upstream or downstream of the intact SHOX gene involving conserved non-coding cis-regulatory DNA elements that show enhancer activity. Recently, two SHOX conserved non-coding element duplications, one upstream and one downstream, were reported in patients referred with idiopathic short stature. To further evaluate the role of these duplications in SHOX-related disorders, we describe seven patients (five with Leri-Weill dyschondrosteosis and two with short stature) all of whom have duplications of part of the upstream or downstream conserved non-coding element regions, identified by multiplex ligation-dependent probe amplification. In addition, we show data from 32 patients with an apparently identical downstream duplication that includes a proposed putative regulatory element (identified by multiplex ligation-dependent probe amplification or array comparative genome hybridization), which results in a variable phenotype from normal to mild Leri-Weill dyschondrosteosis. These additional data provide further evidence that duplications of upstream and downstream long range cis-regulatory DNA elements can result in a SHOX-related phenotype. © 2015 Wiley Periodicals, Inc. PMID:26698168

  17. [Schimke's immuno-osseous dysplasia as an explanation for the rare combination of disproportionately short stature and the nephrotic syndrome].

    PubMed

    de Jong, M; van Wijk, J A E; van der Hulst, J P C M; Ludwig, M; Bökenkamp, A

    2005-09-24

    A 10-year-old Turkish boy with consanguineous parents was presented with a disproportionately short stature and a nephrotic syndrome. The mild form of Schimke's immuno-osseous dysplasia was diagnosed as the common cause. This rare, autosomal recessive osteochondrodysplasia is characterised by spondyloepiphyseal dysplasia, facial dysmorphism, T-cell immunodeficiency and progressive renal failure due to focal segmental glomerulosclerosis. In Schimke's immuno-osseous dysplasia, a severe early-onset form and a milder later-onset form can be distinguished on the basis of the clinical course. The patient was treated by fluid and salt restriction, enalapril and later also losartan, which led to a decrease in the proteinuria and an increase in serum albumin concentration. Two years later, the renal function was still normal. PMID:16223078

  18. A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation.

    PubMed

    Yigit, Gökhan; Wieczorek, Dagmar; Bögershausen, Nina; Beleggia, Filippo; Möller-Hartmann, Claudia; Altmüller, Janine; Thiele, Holger; Nürnberg, Peter; Wollnik, Bernd

    2016-03-01

    Using whole-exome sequencing, we identified a homozygous acceptor splice-site mutation in intron 6 of the KATNB1 gene in a patient from a consanguineous Turkish family who presented with congenital microcephaly, lissencephaly, short stature, polysyndactyly, and dental abnormalities. cDNA analysis revealed complete loss of the natural acceptor splice-site resulting either in the usage of an alternative, exonic acceptor splice-site inducing a frame-shift and premature protein truncation or, to a minor extent, in complete skipping of exon 7. Both effects most likely lead to complete loss of KATNB1 function. Homozygous and compound heterozygous mutations in KATNB1 have very recently been described as a cause of microcephaly with brain malformations and seizures. We extend the KATNB1 associated phenotype by describing a syndrome characterized by primordial dwarfism, lissencephaly, polysyndactyly, and dental anomalies, which is caused by a homozygous truncating KATNB1 mutation. © 2015 Wiley Periodicals, Inc. PMID:26640080

  19. Growth Hormone Therapy Benefits Pituitary Stalk Interruption Syndrome Patients with Short Stature: A Retrospective Study of 75 Han Chinese

    PubMed Central

    Wang, Cheng-Zhi; Guo, Ling-Ling; Han, Bai-Yu; Wang, An-Ping; Liu, Hong-Yan; Su, Xing; Guo, Qing-Hua; Mu, Yi-Ming

    2016-01-01

    Objective. We aim to investigate the long-term benefits of growth hormone (GH) therapy in short stature adolescents and adults with pituitary stalk interruption syndrome (PSIS), which would be beneficial for future clinical applications. Design and Methods. In this study, initial height, final height, total height gain, and GH treatment history were retrospectively investigated in 75 Chinese PSIS patients. We compared height gain between the GH treated cohort and untreated cohort and explored the impact of different GH therapy duration on height gain. Results. For GH treated patients, their final height (SDS) increased from −1.99 ± 1.91 (−6.93~2.80) at bone age (BA) of 11.2 (5.0~17.0) years to −1.47 ± 1.64 (−7.82~1.05) at BA of 16.6 (8.0~18.0) years (P = 0.016). And GH treated patients had more height gain than the untreated patients (P < 0.05). There was a significant difference between the different GH therapy duration groups (P = 0.001): GH 0 versus GH 3, P = 0.000; GH 1 versus GH 3, P = 0.028; GH 2 versus GH 3, P = 0.044. Conclusion. Adult Chinese PSIS patients with short stature benefited the most from at least 12 months of GH therapy. Although patient diagnosis age was lagged behind in the developing countries, GH treatment was still effective for them and resulted in a higher final height and more height gain. PMID:27190512

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

    PubMed

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

    2015-11-01

    Dysregulated endoplasmic reticulum stress and phosphorylation of eukaryotic translation initiation factor 2α (eIF2α) are associated with pancreatic β-cell failure and diabetes. Here, we report the first homozygous mutation in the PPP1R15B gene (also known as constitutive repressor of eIF2α phosphorylation [CReP]) encoding the regulatory subunit of an eIF2α-specific phosphatase in two siblings affected by a novel syndrome of diabetes of youth with short stature, intellectual disability, and microcephaly. The R658C mutation in PPP1R15B affects a conserved amino acid within the domain important for protein phosphatase 1 (PP1) binding. The R658C mutation decreases PP1 binding and eIF2α dephosphorylation and results in β-cell apoptosis. Our findings support the concept that dysregulated eIF2α phosphorylation, whether decreased by mutation of the kinase (EIF2AK3) in Wolcott-Rallison syndrome or increased by mutation of the phosphatase (PPP1R15B), is deleterious to β-cells and other secretory tissues, resulting in diabetes associated with multisystem abnormalities. PMID:26159176

  1. Lower limb lengthening in patients with disproportionate short stature with achondroplasia: a systematic review of the last 20 years.

    PubMed

    Schiedel, Frank; Rödl, Robert

    2012-01-01

    Parents of children suffering from disproportionate short stature due to achondroplasia may wish to have surgical leg lengthening carried out for the child. The aim is not to increase height, but rather to achieve physiological proportions in the body. In a systematic review of the literature on the topic dating from the last 20 years, the surgical approaches used for this purpose were analyzed in accordance with the Preferred reporting items for systematic reviews and meta-analyses (PRISMA) criteria. Twelve studies show that to date, involvement of the child in decision-making at the start of treatment has been expected and that it is recommended from the age of 12. In highly heterogeneous patient groups, with varying factors involved and different techniques being used, lengthening (often by more than 10 cm) is described. High complication rates are reported, with many setbacks often requiring repeat surgery. Using PALEY'S multiplier method, the expected standing height, sitting height, and leg length can be predicted and an individualized treatment approach can be planned and operative procedures could be started in early childhood as PERETTI suggests. As the patients are unable to be involved in decision-making as young children, these data may provide a basis for offering differentiated advice to parents, who usually consult a pediatric orthopedist at a very early stage in the child's life. PMID:22112021

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

    PubMed

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

    2006-11-01

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

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

    PubMed Central

    Igoillo-Esteve, Mariana; Daures, Mathilde; Romero, Sophie; Philippi, Anne; Senée, Valérie; Lopes, Miguel; Cunha, Daniel A.; Harding, Heather P.; Derbois, Céline; Bendelac, Nathalie; Hattersley, Andrew T.; Eizirik, Décio L.; Ron, David

    2015-01-01

    Dysregulated endoplasmic reticulum stress and phosphorylation of eukaryotic translation initiation factor 2α (eIF2α) are associated with pancreatic β-cell failure and diabetes. Here we report the first homozygous mutation in the PPP1R15B gene (also known as constitutive repressor of eIF2α phosphorylation, CReP), encoding the regulatory subunit of an eIF2α-specific phosphatase, in two siblings affected by a novel syndrome of diabetes of youth, with short stature, intellectual disability and microcephaly. The R658C mutation in PPP1R15B affects a conserved amino acid within the domain important for protein phosphatase 1 (PP1) binding. The R658C mutation decreases PP1 binding and eIF2α dephosphorylation, and results in β-cell apoptosis. Our findings support the concept that dysregulated eIF2α phosphorylation, whether decreased by mutation of the kinase (EIF2AK3) in Wolcott-Rallison syndrome or increased by mutation of the phosphatase (PPP1R15B), is deleterious to β-cells and other secretory tissues, resulting in diabetes associated with multi-system abnormalities. PMID:26159176

  4. Long-term efficacy of recombinant human growth hormone therapy in short-statured patients with Noonan syndrome

    PubMed Central

    Jeong, Insook; Kang, Eungu; Cho, Ja Hyang; Kim, Gu-Hwan; Lee, Beom Hee; Choi, Jin-Ho

    2016-01-01

    Purpose Noonan syndrome (NS) is characterized by short stature, heart anomalies, developmental delays, dysmorphic features, cryptorchidism, and coagulation defects. Several studies reported the short-term effects of recombinant human growth hormone (rhGH) treatment on the improvement of height. This study was performed to evaluate the long-term efficacy of rhGH in children with NS in Korea. Methods This study included 15 prepubertal NS children who received rhGH subcutaneously at a dose of 50–75 µg/kg/day for 6 days a week for at least >3 years. Preand posttreatment data, such as height, weight, bone age, insulin-like growth factor 1 (IGF-1), and IGF binding protein 3 (IGFBP-3) levels, were collected every 6 months. Results Chronologic age and bone age at the start of treatment were 7.97±1.81 and 5.09±2.12 years, respectively. Height standard deviation score (SDS) was increased from –2.64±0.64 to –1.54±1.24 years after 3 years (P<0.001). Serum IGF-1 SDS levels were elevated from –1.28±1.03 to –0.10±0.94 (P<0.001). Height SDS was more increased in subjects without PTPN11 mutations compared to those with mutations after 3 years (P=0.012). However, the other parameters, including bone age, IGF-1 SDS, and IGFBP-3 SDS, were not significantly different between patients with and without PTPN11 mutations. Conclusion Although this study included a relatively small number of patients, long-term rhGH therapy in NS patients was safe and effective at improving height, growth velocity, and serum IGF-1 levels, in accordance with previous studies. However, the meticulous monitoring of potential adverse events is still needed because of high dose of rhGH and preexisting hyperactivity of RAS-MAPK pathway. Patients with PTPN11 mutations demonstrated a decreased response to rhGH therapy compared to those without mutations. PMID:27104176

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

    SciTech Connect

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

    1995-03-13

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

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

    PubMed

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

    2003-10-01

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

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

    PubMed Central

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

    2014-01-01

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

  8. Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies.

    PubMed

    Loucks, Catrina M; Parboosingh, Jillian S; Shaheen, Ranad; Bernier, Francois P; McLeod, D Ross; Seidahmed, Mohammed Z; Puffenberger, Erik G; Ober, Carole; Hegele, Robert A; Boycott, Kym M; Alkuraya, Fowzan S; Innes, A Micheil

    2015-10-01

    Recently, Alazami et al. (2015) identified 33 putative candidate disease genes for neurogenetic disorders. One such gene was DPH1, in which a homozygous missense mutation was associated with a 3C syndrome-like phenotype in four patients from a single extended family. Here, we report a second homozygous missense variant in DPH1, seen in four members of a founder population, and associated with a phenotype initially reminiscent of Sensenbrenner syndrome. This postpublication "match" validates DPH1 as a gene underlying syndromic intellectual disability with short stature and craniofacial and ectodermal anomalies, reminiscent of, but distinct from, 3C and Sensenbrenner syndromes. This validation took several years after the independent discoveries due to the absence of effective methods for sharing both candidate phenotype and genotype data between investigators. Sharing of data via Web-based anonymous data exchange servers will play an increasingly important role toward more efficient identification of the molecular basis for rare Mendelian disorders. PMID:26220823

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

    PubMed

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

    2015-01-01

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

  10. Compound heterozygous variants in the LARP7 gene as a cause of Alazami syndrome in a Caucasian female with significant failure to thrive, short stature, and developmental disability.

    PubMed

    Ling, Tina T; Sorrentino, Susanna

    2016-01-01

    Alazami syndrome is an autosomal recessive disease characterized by primordial dwarfism, distinct dysmorphic features, and severe intellectual disability. Since it was first identified in a large consanguineous Arabic family in 2012, additional cases have not been published in the literature. We present a 2-year-old Northern European/Caucasian female with short stature, failure to thrive, and developmental delay. Whole exome sequencing (WES) identified two novel pathogenic variants in LARP7 (c.213_214dup and c.651_655del), indicating a diagnosis of Alazami syndrome. The case report describes a novel genotypic and phenotypic presentation of Alazami syndrome, contributing to the current knowledge of the condition as well as the expansion of differential diagnoses for growth restriction and intellectual disability. PMID:26374271

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

    PubMed

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

    2011-01-01

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

  12. Simultaneous stimulation of growth hormone, adrenocorticotropin and cortisol with L-dopa/L-carbidopa and propranolol in children of short stature.

    PubMed

    Philippi, H; Pohlenz, J; Grimm, W; Koffler, T; Schönberger, W

    2000-04-01

    In 59 otherwise healthy children of short stature, the simultaneous response of growth hormone, cortisol and plasma adrenocorticotropin (ACTH) to L-dopa/L-carbidopa and propranolol at 45 and 90 min after administration were investigated. A growth hormone response of 10 microg/l or higher was considered positive. The definition of a positive cortisol response included either a hormone increase of at least 193 nmol/l or a peak hormone level of at least 497 nmol/l. The ACTH increase had to be fourfold above 11 pmol/l to be considered positive. In the 59 investigated children, the median basal growth hormone levels increased from 1.35 microg/l to 18.05 microg/l and 10.15 microg/l at 45 and 90 min after stimulation (p < 0.05). The median cortisol levels rose from 242 nmol/l to 439 nmol/l and 612 pmol/l, and the corresponding median ACTH levels from 2.94 pmol/l to 9.63 pmol/l and 11.13 pmol/l at 45 and 90 min after stimulation. Significant positive hormone response rates were 88.1% for growth hormone, 88.1% for cortisol and 69% for ACTH. These results could be attributed to the enhanced stimulating effect of the additional administration of L-carbidopa and propranolol. We conclude that the administration of L-dopa/L-carbidopa and propranolol is useful for the simultaneous evaluation of growth hormone, cortisol and ACTH secretion in children of short stature. PMID:10830457

  13. The Effect of Recombinant Growth Hormone Treatment in Children with Idiopathic Short Stature and Low Insulin-Like Growth Factor-1 Levels

    PubMed Central

    Şıklar, Zeynep; Kocaay, Pınar; Çamtosun, Emine; İsakoca, Mehmet; Hacıhamdioğlu, Bülent; Savaş Erdeve, Şenay; Berberoğlu, Merih

    2015-01-01

    Objective: Idiopathic short stature (ISS) constitutes a heterogeneous group of short stature which is not associated with an endocrine or other identifiable cause. Some ISS patients may have varying degrees of insulin-like growth factor-1 (IGF-1) deficiency. Recombinant growth hormone (rGH) treatment has been used by some authors with variable results. Reports on long-term rGH treatment are limited. Methods: In this study, 21 slowly growing, non-GH-deficient ISS children who received rGH treatment for 3.62±0.92 years were evaluated at the end of a 5.42±1.67-year follow-up period. The study group included patients with low IGF-1 levels who also responded well to an IGF generation test. The patients were divided into two groups as good responders [height increment >1 standard deviation (SD)] and poor responders (height increment <1 SD) at the end of the follow-up period. Results: The height of the patients improved from -3.16±0.46 SD score (SDS) to -1.9±0.66 SDS. At the end of the follow-up period, mean height SDS was -1.72. Eleven of the patients showed a good response to treatment. Clinical parameters were essentially similar in the good responders and the poor responders groups. A female preponderance was noted in the good responders group. Conclusion: rGH treatment can safely be used in ISS children. Long-term GH treatment will ameliorate the height deficit and almost 40% of patients may reach their target height. PMID:26777041

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

    SciTech Connect

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

    1992-12-01

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

  15. GH responsiveness in a large multinational cohort of SGA children with short stature (NESTEGG) is related to the exon 3 GHR polymorphism

    PubMed Central

    Tauber, M; Ester, W; Auriol, F; Molinas, C; Fauvel, J; Caliebe, J; Nugent, T; Fryklund, L; Ranke, M B; Savage, M O; Clark, A J L; Johnston, L B; Hokken-Koelega, A C S

    2007-01-01

    Objective The polymorphic deletion of exon 3 of the GH receptor (d3-GHR) has recently been linked to the magnitude of growth response to recombinant human GH (rhGH) therapy in short children with or without GH deficiency. We investigated this association in a large multinational cohort from the Network of European Studies of Genes in Growth (NESTEGG), comprising short children born small for gestational age (SGA). Design The study included short prepubertal SGA children treated with rhGH for 1 or 2 years. Population Two hundred and forty white Caucasian SGA children (138 male, 102 female) aged 6·6 ± 2·3 years with a height at –3·0 ± 0·7 SDS at start of rhGH treatment; 193 ethnically matched controls. Methods The GHR polymorphism (fl/fl, fl/d3 or d3/d3) was genotyped by polymerase chain reaction (PCR) multiplex assay. Growth velocity (G/V) in cm/year and changes in GV during the first and second year of rhGH treatment were evaluated. Results The change in GV was significantly greater in SGA children carrying one or two copies of the d3-GHR allele (P = 0·038 for the first year and P = 0·041 for the second year of GH treatment), but the change in height was not significantly different. Birthweight was significantly lower in SGA children with the d3/d3 genotype than in SGA children with the fl/fl genotype (P = 0·034) and in those with the fl/d3 genotype (P = 0·016). Conclusion Our data, based on a large cohort, showed that the exon 3 GHR polymorphism is associated with responsiveness to rhGH treatment in SGA children with short stature. PMID:17555507

  16. Hypotonia

    MedlinePlus

    ... disorders, in which the body cannot properly turn food into energy Infections Genetic or chromosomal disorders, or defects that may cause brain and nerve damage include: Down syndrome Prader-Willi ...

  17. 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

    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

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

  18. Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature.

    PubMed

    Fukami, Maki; Naiki, Yasuhiro; Muroya, Koji; Hamajima, Takashi; Soneda, Shun; Horikawa, Reiko; Jinno, Tomoko; Katsumi, Momori; Nakamura, Akie; Asakura, Yumi; Adachi, Masanori; Ogata, Tsutomu; Kanzaki, Susumu

    2015-09-01

    Pseudoautosomal region 1 (PAR1) contains SHOX, in addition to seven highly conserved non-coding DNA elements (CNEs) with cis-regulatory activity. Microdeletions involving SHOX exons 1-6a and/or the CNEs result in idiopathic short stature (ISS) and Leri-Weill dyschondrosteosis (LWD). Here, we report six rare copy-number variations (CNVs) in PAR1 identified through copy-number analyzes of 245 ISS/LWD patients and 15 unaffected individuals. The six CNVs consisted of three microduplications encompassing SHOX and some of the CNEs, two microduplications in the SHOX 3'-region affecting one or four of the downstream CNEs, and a microdeletion involving SHOX exon 6b and its neighboring CNE. The amplified DNA fragments of two SHOX-containing duplications were detected at chromosomal regions adjacent to the original positions. The breakpoints of a SHOX-containing duplication resided within Alu repeats. A microduplication encompassing four downstream CNEs was identified in an unaffected father-daughter pair, whereas the other five CNVs were detected in ISS patients. These results suggest that microduplications involving SHOX cause ISS by disrupting the cis-regulatory machinery of this gene and that at least some of microduplications in PAR1 arise from Alu-mediated non-allelic homologous recombination. The pathogenicity of other rare PAR1-linked CNVs, such as CNE-containing microduplications and exon 6b-flanking microdeletions, merits further investigation. PMID:26040210

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

    PubMed

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

    2015-11-01

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

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

    PubMed

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

    2015-01-01

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

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

    PubMed Central

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

    2015-01-01

    Protein translation is an essential cellular process initiated by the association of a methionyl–tRNA with the translation initiation factor eIF2. The Met-tRNA/eIF2 complex then associates with the small ribosomal subunit, other translation factors and mRNA, which together comprise the translational initiation complex. This process is regulated by the phosphorylation status of the α subunit of eIF2 (eIF2α); phosphorylated eIF2α attenuates protein translation. Here, we report a consanguineous family with severe microcephaly, short stature, hypoplastic brainstem and cord, delayed myelination and intellectual disability in two siblings. Whole-exome sequencing identified a homozygous missense mutation, c.1972G>A; p.Arg658Cys, in protein phosphatase 1, regulatory subunit 15b (PPP1R15B), a protein which functions with the PPP1C phosphatase to maintain dephosphorylated eIF2α in unstressed cells. The p.R658C PPP1R15B mutation is located within the PPP1C binding site. We show that patient cells have greatly diminished levels of PPP1R15B–PPP1C interaction, which results in increased eIF2α phosphorylation and resistance to cellular stress. Finally, we find that patient cells have elevated levels of PPP1R15B mRNA and protein, suggesting activation of a compensatory program aimed at restoring cellular homeostasis which is ineffective due to PPP1R15B alteration. PPP1R15B now joins the expanding list of translation-associated proteins which when mutated cause rare genetic diseases. PMID:26307080

  2. Clonidine-stimulated growth hormone concentrations (cut-off values) measured by immunochemiluminescent assay (ICMA) in children and adolescents with short stature

    PubMed Central

    de Fátima Borges, Maria; Teixeira, Flávia Carolina Cândida; Feltrin, Aline Karin; Ribeiro, Karina Alvarenga; Nascentes, Gabriel Antonio Nogueira; Resende, Elisabete Aparecida Mantovani Rodrigues; Ferreira, Beatriz Pires; Silva, Adriana Paula; Palhares, Heloísa Marcelina Cunha

    2016-01-01

    OBJECTIVES: To establish cut-off values for growth hormone concentrations using clonidine as a secretagogue and an immunochemiluminescent assay as the method of measurement and to analyze the response time as well as the influence of gender, nutritional status and pubertal stage. METHODS: A total of 225 tests were performed in 3 patient groups, categorized as group 1 (normal), group 2 (idiopathic short stature) and group 3 (growth hormone deficiency). Among the 199 disease-free individuals, 138 were prepubertal, and 61 were pubertal. Clonidine (0.1 mg/m2) was orally administered, and the growth hormone level was measured by immunochemiluminescent assay. The growth hormone peak and the difference between the growth hormone peak and the baseline level were then analyzed. Statistical analyses were performed using Student's t-test or the Mann-Whitney test and Kruskal-Wallis test followed by Dunn's post hoc test. Cut-off values were determined using a receiver operating characteristic curve. RESULTS: Group 1 and group 2 had no difference in growth hormone peak, gender, body mass index standard deviation score, or pubertal stage. Group 3 exhibited a significantly lower growth hormone peak than the other groups did. The receiver operating characteristic curve demonstrated that growth hormone concentrations ≥ 3.0 ng/mL defined responsiveness to clonidine. In total, 3.02% of individuals in group 1 and group 2 were considered false positive, i.e., these children lacked growth hormone deficiency and had a peak below 3.0 ng/mL. CONCLUSION: Clonidine-stimulated growth hormone concentrations ≥3 ng/mL, as measured by immunochemiluminescent assay, suggest responsiveness to the stimulus regardless of gender, body mass index standard deviation score or pubertal stage. PMID:27166774

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

    PubMed Central

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

    2014-01-01

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

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

    PubMed Central

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

    2015-01-01

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

  5. Clinical characteristics, etiologies and pathophysiology of patients with severe short stature with severe GH deficiency: questionnaire study on the data registered with the foundation for growth science, Japan.

    PubMed

    Hanew, Kunihiko; Tachibana, Katsuhiko; Yokoya, Susumu; Fujieda, Kenji; Tanaka, Toshiaki; Igarashi, Yutaka; Shimatsu, Akira; Tanaka, Hiroyuki; Tanizawa, Takakuni; Teramoto, Akira; Nishi, Yoshikazu; Hasegawa, Yukihiro; Hizuka, Naomi; Hirano, Takeki; Fujita, Keinosuke

    2006-04-01

    In this study, we sent questionnaires to doctors treating severe short stature with severe GH deficiency (GHD) (height SDS (HtSDS) below -4 and all peak GH to provocative stimuli below 2 micro/L) (abbreviated as Severe Case), and obtained effective replies of 51 cases. The clinical characteristics, etiologies, and pathophysiology of these patients were examined. Among the 51 Severe Cases no consanguinity was observed, 44 were IGHD (24 males and 20 females), 3 were GH-1 gene deletion, 2 were Pit-1 gene mutation, and 2 were achondroplasia. HtSDS in these Severe Cases was already remarkably low at 12 (-3.0) and 24 months old (-3.9), while their birth weight and birth length were within normal ranges. Among 44 patients with IGHD, 12 were isolated GHD, and the remaining 32 were combined pituitary hormone deficiency (CPHD). Pituitary MRI was undergone in 25 idiopathic GHD, and abnormal findings (pituitary atrophy, interruption of stalk, and ectopic posterior lobe) were observed in 21 patients with CPHD. More than half of these patients had the history of breech delivery. Three patients with GH-1 gene mutation showed normal pituitary MRI, whereas one of two patients with Pit-1 mutation showed pituitary atrophy and narrowing of pituitary stalk. In conclusion, Severe Cases tended to have CPHD, and the incidence of Severe Case was only 0.6% of total IGHD. Although GHD due to genetic disorders is considered to be extremely rare (0.06% of total IGHD), the incidence reaches high levels (9.8%) among Severe Cases. Growth disorders in these Severe Cases seem to occur soon after delivery. Much earlier diagnosis and hGH treatment are desirable to attain better final height in the Severe Cases. GH-1 and Pit-1 gene analyses are crucial, when genetic abnormalities other than achondroplasia are suspected. PMID:16618986

  6. Effectiveness of the Combined Recombinant Human Growth Hormone and Gonadotropin-Releasing Hormone Analog Therapy in Pubertal Patients with Short Stature due to SHOX Deficiency

    PubMed Central

    Scalco, Renata C.; Melo, Suzana S. J.; Pugliese-Pires, Patricia N.; Funari, Mariana F. A.; Nishi, Mirian Y.; Arnhold, Ivo J. P.; Mendonca, Berenice B.; Jorge, Alexander A. L.

    2010-01-01

    Context: Isolated heterozygous SHOX defects are the most frequent monogenic cause of short stature, and combined therapy with recombinant human GH (rhGH) and GnRH analog (GnRHa) in pubertal patients has been suggested, but there are no data on final height. Objective: The aim of the study was to analyze adult height after rhGH and GnRHa therapy in patients with SHOX haploinsufficiency. Patients: Ten peripubertal patients with isolated SHOX defects participated in the study. Intervention: Five patients were followed without treatment, and five were treated with rhGH (50 μg/kg/d) and depot leuprolide acetate (3.75 mg/month). Main Outcome Measures: Adult height sd score (SDS) was measured. Results: All patients followed without treatment had marked downward growth shift during puberty (height SDS, −1.2 ± 0.7 at 11.4 ± 1.4 yr; adult height SDS, −2.5 ± 0.5). Conversely, four of five patients treated with rhGH for 2 to 4.9 yr associated to GnRHa for 1.4 to 5.8 yr improved their height SDS from −2.3 ± 1.3 at 11.8 ± 2.1 yr to a final height SDS of −1.7 ± 1.6. The difference between the mean height SDS at the first evaluation and final height SDS was statistically significant in nontreated vs. treated patients (mean height SDS change, −1.2 ± 0.4 vs. 0.6 ± 0.4, respectively; P <0.001). Conclusion: A gain in adult height of patients with isolated SHOX defects treated with combined rhGH and GnRHa therapy was demonstrated for the first time, supporting this treatment for children with SHOX defects who have just started puberty to avoid the loss of growth potential observed in these patients during puberty. PMID:19926713

  7. Body proportions during 6 years of GH treatment in children with short stature born small for gestational age participating in a randomised, double-blind, dose-response trial.

    PubMed

    Sas, T C; Gerver, W J; De Bruin R; Mulder, P G; Cole, T J; De Waal W; Hokken-Koelega, A C

    2000-12-01

    The aim of this study was to assess body proportions in children with short stature born small for gestational age (SGA) before and during 6 years of growth hormone (GH) treatment. A prospective randomised double-blind dose-response study comparing the effects of 3 vs. 6 IU GH/m2/day. Seventy-nine children with short stature (height SD-score < -1.88) born small for gestational age (birth length SD-score < -1.88). Before and during GH treatment, height, sitting height (SH), hand (Hand) and foot length (Foot), biacromial (Biac) and biiliacal diameter (Biil) were measured. All results were adjusted for age and sex, and expressed as SD-scores (SDS) using reference values for healthy Dutch children. To describe the size of SH, Hand, Foot, Biac, and Biil in relation to height, these values were adjusted for the SDS of height. At baseline, these short children had small hands and feet and narrow shoulders and pelvis compared to healthy peers. Height and SH, were, however, even more affected. Consequently, on average, these children had relatively large hands and feet, and relatively broad shoulders and pelvis compared to their height, but a normal sitting height in proportion to height. In most of the individuals, the values for body proportions were, however, within the normal range. During 6 years of GH treatment the SD-scores of all measurements increased significantly towards values more close to zero. The mean size of Hand, Foot, and Biil decreased in proportion to height. The mean SH increased relatively more than height, however, to values well within the normal range. The mean Biac in relation to height had not changed after 6 years of GH treatment. No differences in the 6-year changes in body proportions were found between the two GH dosage groups. Untreated short children born small for gestational age have, on average, relatively large hands and feet, and broad shoulders and pelvis, but a normal sitting height compared to height. The increase in height during 6 years of GH treatment is accompanied by an improvement of the proportions of the size of hands, feet, and biiliacal diameter, in relation to height. The increase in height appeared to be the result of the increase in sitting height as well as leg length, but the sitting height SD-score increased slightly more than that of leg length. The changes in body proportion during GH treatment were dose-independent. Thus, 6-year continuous GH treatment with either 3 or 6 IU/m2/day in children with short stature born small for gestational age does not negatively influence body proportions. PMID:11155088

  8. [Good things come in small packages? Psychosocial aspects of small stature].

    PubMed

    Huisman, J; Slijper, F M; Sinnema, G; Akkerhuis, G W; Brugman-Boezeman, A T

    1992-10-01

    Short stature is considered as a social disadvantage. This review deals with the findings of studies on cognitive and socio-emotional functioning in children with growth hormone deficiency, constitutional short stature, Turner syndrome, skeletal dysplasias and chronic illnesses. The consequences of short stature in adulthood are also described. The short term effect of growth hormone treatment on psychosocial functioning appears positive, but long term results have to be awaited before conclusions can be drawn. PMID:1448804

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

    SciTech Connect

    Hamel, B.C.J.; Mariman, E.C.M.; Beersum, S.E.C. van; Ropers, H.H.; Schoonbrood-Lenssen, A.M.J.

    1994-07-15

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

  10. Congenital hypotonia: is there an algorithm?

    PubMed

    Paro-Panjan, Darja; Neubauer, David

    2004-06-01

    This study was performed with the aim of determining the diagnostic profile of newborns with hypotonia and of analyzing the usefulness of different procedures in the diagnostic process. One hundred thirty-eight hypotonic newborns were identified through the search of hospital records in a 10-year period: 121 (88%) had central hypotonia and 13 (9%) had peripheral hypotonia, whereas 4 (3%) remained unclassified. Analysis of the contribution of clinical data and results of investigations led to the construction of an algorithm, by which all cases in the group were diagnosed. Step 1, which included clinical data and results of examinations, solved 50% of all diagnosed cases. Neuroimaging techniques made up step 2 and contributed to the diagnosis in 13%. Step 3 was accomplished by a search through Oxford Medical Databases, which yielded the final diagnosis in 9%, whereas karyotyping and fluorescent in situ hybridization for Prader-Willi syndrome comprised step 4 and contributed to the diagnosis in 6.5%. Biochemical tests formed step 5 and contributed to the diagnosis in 6%. Step 6, which included specific investigations of muscle and nerve, was diagnostic in 6%. The remaining cases (6.5%) were diagnosed only after several follow-up examinations. These results could assist the neonatologist when deciding the diagnostic approach to floppy newborns. PMID:15446393

  11. 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

    2013-01-01

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

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

    PubMed Central

    2012-01-01

    Background Few studies have compared the response to growth hormone (GH) treatment between indications such as isolated growth hormone deficiency (IGHD), born small for gestational age (SGA), idiopathic short stature (ISS), and multiple pituitary hormone deficiency (MPHD). The aim of this analysis of data, collected from two large ongoing observational outcome studies, was to evaluate growth and insulin-like growth factor-I (IGF-I) response data for children of short stature with IGHD, MPHD, SGA, or ISS following two years of treatment with the recombinant GH product Norditropin® (Novo Nordisk A/S, Bagsværd, Denmark). Methods Analysis of auxologic data from two ongoing prospective observational studies, NordiNet® International Outcomes Study (NordiNet® IOS) and NovoNet®/American Norditropin® Studies: Web-enabled Research (ANSWER) Program®. Results 4,582 children aged <18 years were included: IGHD, n = 3,298; SGA, n = 678; ISS, n = 334; and MPHD, n = 272. After two years’ GH treatment, change in height standard deviation score (SDS) was +1.03 in SGA and +0.84 in ISS vs. +0.97 in IGHD (p = 0.047; p < 0.001 vs. IGHD, respectively). Height gain was comparable between IGHD and MPHD. In pre-pubertal children vs. total population, height SDS change after two years was: IGHD, +1.24 vs. +0.97; SGA, +1.17 vs. +1.03; ISS, +1.04 vs. +0.84; and MPHD, +1.16 vs. +0.99 (all p < 0.001). Conclusions After two years’ GH treatment, change in height SDS was greater in SGA and less in ISS, compared with IGHD; the discrepancy in responses may be due to the disease nature or confounders (i.e. age). Height SDS increase was greatest in pre-pubertal children, supporting early treatment initiation to optimize growth outcomes. PMID:22788856

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

    SciTech Connect

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

    1994-09-01

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

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

    PubMed Central

    DeWitte, Sharon N.; Hughes-Morey, Gail

    2013-01-01

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

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

    PubMed Central

    2012-01-01

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

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

    PubMed Central

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

    2015-01-01

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

  17. Stature estimation formulae for Nigerians.

    PubMed

    Didia, Blessing C; Nduka, Ethelbert C; Adele, Okechukwu

    2009-01-01

    In stature estimation, long limbs and the stature formula of Trotter and Gleser easily come to mind. In the recent past, a lot of workers have established formulae specific to their populations using whole length of limbs, fragmented bones, circumference of long bones, and even length of the vertebrae. We have in this work used tibia length, height of subjects, and the regression models to establish formulae specific to Nigerians. We measured height and tibia length of 200 (96 male and 104 female) adult Nigerians. The tibia length was measured from upper limit of the medial condoyle to the tip of medial malleolus using a measuring tape calibrated in meters while the height of individuals were also measured using meter scales. All measurements were made by one person, to avoid interobserver error, and repeatedly until a constant value is obtained. We obtained general formulae for males and females which compares favorably with that of Duyar and Pelin, and can be relied upon. PMID:19018931

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

    PubMed

    Price, Gregory N

    2013-12-01

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

  19. Prediction of stature using hand dimensions.

    PubMed

    Agnihotri, Arun Kumar; Agnihotri, Smriti; Jeebun, Nilima; Googoolye, Krishna

    2008-11-01

    In this study, an attempt was made to find out possible correlations between hand dimensions and stature using linear and curvilinear regression models for both genders. The study was conducted amongst 250 medical students (125 male and 125 female) aged 18-30 years. Each student has been studied for measurements of stature, hand length and hand breadth. To explain stature, all the explanatory variables like age, sex, hand length (right and left) and hand breadth (right and left) were included for model generation using SPSS. A general linear regression model was found to be best explanatory in both males and females, however, amongst the curvilinear models; the exponential model emerged as the 'best' in explaining stature of the individual. Left hand length alone explained very significantly (P<0.001). PMID:18926497

  20. Stature estimation in ancient Egyptians: a new technique based on anatomical reconstruction of stature.

    PubMed

    Raxter, Michelle H; Ruff, Christopher B; Azab, Ayman; Erfan, Moushira; Soliman, Muhammad; El-Sawaf, Aly

    2008-06-01

    Trotter and Gleser's (Trotter and Gleser: Am J Phys Anthropol 10 (1952) 469-514; Trotter and Gleser: Am J Phys Anthropol 16 (1958) 79-123) long bone formulae for US Blacks or derivations thereof (Robins and Shute: Hum Evol 1 (1986) 313-324) have been previously used to estimate the stature of ancient Egyptians. However, limb length to stature proportions differ between human populations; consequently, the most accurate mathematical stature estimates will be obtained when the population being examined is as similar as possible in proportions to the population used to create the equations. The purpose of this study was to create new stature regression formulae based on direct reconstructions of stature in ancient Egyptians and assess their accuracy in comparison to other stature estimation methods. We also compare Egyptian body proportions to those of modern American Blacks and Whites. Living stature estimates were derived using a revised Fully anatomical method (Raxter et al.: Am J Phys Anthropol 130 (2006) 374-384). Long bone stature regression equations were then derived for each sex. Our results confirm that, although ancient Egyptians are closer in body proportion to modern American Blacks than they are to American Whites, proportions in Blacks and Egyptians are not identical. The newly generated Egyptian-based stature regression formulae have standard errors of estimate of 1.9-4.2 cm. All mean directional differences are less than 0.4% compared to anatomically estimated stature, while results using previous formulae are more variable, with mean directional biases varying between 0.2% and 1.1%, tibial and radial estimates being the most biased. There is no evidence for significant variation in proportions among temporal or social groupings; thus, the new formulae may be broadly applicable to ancient Egyptian remains. PMID:18257013

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

    PubMed Central

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

    2015-01-01

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

  2. Stature and footsize in four Thai communities of Assam, India.

    PubMed

    Singh, T S; Phookan, M N

    1993-12-01

    An attempt has been made to examine correlationships between stature and footlength, stature and footbreadth, and footlength and breadth among four Thai (male) populations of Assam (India), viz. the Khamyangs, the Turungs, the Aitons and the Khamitis. Significant positive correlations have been found in all the cases. Mean values of the indices have revealed a more or less constant ratio of stature and footsize at all heights suggesting the possibility of estimating stature from footlength or breadth and vice versa. Estimation of stature from footlength is, however, preferable to estimation from footbreadth. The Turungs stand for the tallest in stature and biggest foot measurements. They fall into 'medium' stature of the Martin's scale while the others fall into 'below medium'. Statistically significant difference has been observed the Turungs and the Khamyangs in respect of footbreadth, between the Turungs and the Aitons in footlength and, between the Khamyangs and the Khamtis in respect of stature footbreadth index. PMID:8285602

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

    PubMed

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

    2010-07-01

    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

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

    PubMed Central

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

    2014-01-01

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

  5. Novel treatment of short stature with aromatase inhibitors.

    PubMed

    Dunkel, Leo; Wickman, Sanna

    2003-09-01

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

  6. Genetic Techniques in the Evaluation of Short Stature.

    PubMed

    Romero, Christopher J; Mehta, Lakshmi; Rapaport, Robert

    2016-06-01

    Normal growth is a complex dynamic process dependent on the coordination of multiple factors including genetics, nutrition and hormones that are all working in balance. This chapter will review selected features of commonly utilized genetic techniques such as chromosomal analysis, microarray analysis, targeted gene screening and whole exome sequencing that are being used to identify genes influencing growth. As genetic technologies continue to improve and become more accessible many of these techniques will help to provide a better understanding of mechanisms underlying abnormal growth and will eventually lead to novel management approaches for abnormal growth. PMID:27241969

  7. [Attention deficit disorder and hyperactivity: does the treatment affect the statural growth?].

    PubMed

    Damiani, Durval; Damiani, Daniel; Casella, Erasmo

    2010-03-01

    The current study evaluated the influence of stimulant drugs used for attention deficit and hyperactivity (ADH) on statural growth. The authors conducted a literature review collecting published articles on attention deficit hyperactivity disorder and its relationship with short stature. The source of information was the PubMed database where the following terms were researched: "Growth and Methylphenidate"/"Attention deficit and hyperactivity versus short stature"/"Methylphenidate and growth disorders". ADH are difficult clinical situations that interfere with the patient's well-being and social and school performance. Once the diagnosis is attained stimulant medications such as methylphenidate have a key role in the treatment but there are concerns regarding their interference in growth and weight gain. We reviewed many publications regarding these side effects and there is no consensus on them; however, even when they happen to occur their intensity is not sufficient to preclude the use of the medication. We have to take into consideration the cost/benefit relationship, remembering that improvement in school and social performance are very welcome to the child and family. Careful monitoring of the growth chart can detect worsening of growth and its intensity will determine if the drug shall or shall not be interrupted. PMID:20520955

  8. Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome.

    PubMed

    Martens, Kevin; Heulens, Inge; Meulemans, Sandra; Zaffanello, Marco; Tilstra, David; Hes, Frederik J; Rooman, Raoul; François, Inge; de Zegher, Francis; Jaeken, Jaak; Matthijs, Gert; Creemers, John W M

    2007-10-01

    Hypotonia-cystinuria syndrome (HCS) is a recessive disorder caused by microdeletions of SLC3A1 and PREPL on chromosome 2p21. Patients present with generalized hypotonia at birth, failure to thrive, growth retardation and cystinuria type I. While the initially described HCS families live in small regions in Belgium and France, we have now identified HCS alleles in patients and carriers from the Netherlands, Italy, Canada and United States of America. Surprisingly, among the nine deletions detected in those patients, only one novel deletion was found. Furthermore, one previously described deletion was found six times, another twice. Finally, we have investigated the frequency of both deletions using a random Belgian cohort. Given the global occurrence, HCS should be considered in the differential diagnosis of neonatal hypotonia. PMID:17579669

  9. Metatarsals in the estimation of stature in South Africans.

    PubMed

    Bidmos, Mubarak Ariyo

    2008-11-01

    To date, only one study has investigated the potential of metatarsals in the estimation of stature for forensic purposes. The morphology of these bones from clinical and paleontological perspectives is well researched in different parts of the world including South Africa. The present study aimed at assessing the usefulness of metatarsals of South Africans in the estimation of stature. For this study, 226 complete skeletons obtained from the Raymond A. Dart Collection were used in the formulation of univariate and multivariate regression equations from six linear measurements of metatarsals. The standard error of estimate for these equations was lower than that obtained for fragments of long bones and other skeletal elements studied so far for stature estimation in South Africans with the exception of intact long bones. Therefore, regression equations presented in this study can provide a reliable estimate of stature in cases where intact long bones are not available for forensic analysis. PMID:18926502

  10. Estimation of stature from handprint dimensions in Egyptian population.

    PubMed

    Paulis, Melad G

    2015-08-01

    Handprint in the scene of the crime is one of the most valuable clues in identification of the assailant. There are numerous studies on estimation of stature from direct measures of hand dimensions, but using a handprint instead, there is little research on it. So this study tried to focus on handprint as a tool used in estimation of stature. One hundred right male hands and 91 right female hands were scanned, processed via Photoshop program and handprint measurements were taken using a software program. Our results showed that stature could be estimated from handprint measurements by simple and multiple regression equations with standard error of estimate was the lowest in handprint length ±4.54 cm in male and ±5.38 cm in female. It was concluded that handprint from the scene of the crime could be used for the prediction of the stature of the assailant. PMID:26165660

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

    ERIC Educational Resources Information Center

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

    2013-01-01

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

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

    ERIC Educational Resources Information Center

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

    2013-01-01

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

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

    MedlinePlus

    2 to 20 years: Girls NAME Stature-for-age and Weight-for-age percentiles RECORD # 12 13 14 15 16 17 18 19 20 Mother’s Stature Date Age Father’s Stature Weight Stature BMI* AGE (YEARS) in cm 160 62 155 60 150 58 145 56 140 S 54 ...

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

    PubMed

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

    2012-02-01

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

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

    PubMed

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

    2009-12-01

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

  16. Developing Korean-specific equations of stature estimation.

    PubMed

    Jeong, Yangseung; Jantz, Lee Meadows

    2016-03-01

    This study aims to develop Korean-specific equations for stature estimation and compare their performance to existing techniques. Due to a lack of appropriate reference samples in Korea, equations were generated using a hybrid method on 113 Korean unknown skeletons. In this approach, estimates using the anatomical method [1] were regarded as actual stature. Results revealed that new equations produced more accurate and precise estimates than previous techniques. In addition, due to consistent body proportions of Korean populations through time and space, new equations are applicable to Korean skeletons regardless of their temporal and geographic origins. For obtaining statures at death, particularly in a forensic context, an age correction factor, 0.0426cm/year, should be applied. PMID:26833426

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

    PubMed

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

    2012-07-01

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

  18. Femoral lengths and stature in Plio-Pleistocene hominids.

    PubMed

    McHenry, H M

    1991-06-01

    This study reports the femoral lengths of 31 Plio-Pleistocene hominids dated between 3.1 and 0.7 million years ago, and uses those lengths to estimate stature by way of the femur-stature ratio reported by Feldesman et al. (Am. J. Phys. Anthropol. 78:219-220, 1989). By this method the average female Australopithecus afarensis is 105 cm and the average male is 151 cm. The respective values are 115 and 138 cm for A. africanus. As defined by Howell (In VJ Maglio and HBS Cooke (eds): The Evolution of African Mammals. Cambridge: Harvard University Press, 1978) and Johanson et al. (Kirtlandia 28:1-14, 1978), Homo habilis is a sexually dimorphic species, with females standing 118 cm and males 157 cm. Such apparently strong dimorphism may be due to the possibility that there are actually two species of nonrobust hominids between 2 and 1.7 m.y.a. The estimate for the female Australopithecus boisei is 124 cm and for the male, 137 cm, but these estimates are especially difficult to be certain of because there are no femora that can be positively identified as male A. boisei. Australopithecus robustus is estimated to be 110 cm (female) and 132 cm (male). African Homo erectus stood 160 cm (female) and 180 cm (male). From these estimates several generalizations are apparent. First, there is apparently strong sexual dimorphism in stature in A. afarensis and H. habilis, but less in the other species. Second, the "robust" australopithecines were relatively small statured. Third, it is apparently not true that humans have been getting progressively taller throughout their evolutionary history. Some individuals were as tall as modern humans 3 m.y.a., by 2 m.y.a. one individual stood about 173 cm, and by 1.7 m.y.a. a stature of 180+ cm was not uncommon. PMID:1882979

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

    PubMed Central

    2014-01-01

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

  20. Multiplication factor versus regression analysis in stature estimation from hand and foot dimensions.

    PubMed

    Krishan, Kewal; Kanchan, Tanuj; Sharma, Abhilasha

    2012-05-01

    Estimation of stature is an important parameter in identification of human remains in forensic examinations. The present study is aimed to compare the reliability and accuracy of stature estimation and to demonstrate the variability in estimated stature and actual stature using multiplication factor and regression analysis methods. The study is based on a sample of 246 subjects (123 males and 123 females) from North India aged between 17 and 20 years. Four anthropometric measurements; hand length, hand breadth, foot length and foot breadth taken on the left side in each subject were included in the study. Stature was measured using standard anthropometric techniques. Multiplication factors were calculated and linear regression models were derived for estimation of stature from hand and foot dimensions. Derived multiplication factors and regression formula were applied to the hand and foot measurements in the study sample. The estimated stature from the multiplication factors and regression analysis was compared with the actual stature to find the error in estimated stature. The results indicate that the range of error in estimation of stature from regression analysis method is less than that of multiplication factor method thus, confirming that the regression analysis method is better than multiplication factor analysis in stature estimation. PMID:22520373

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

    PubMed

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

    2015-09-01

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

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

    PubMed

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

    2014-02-01

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

  3. Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.

    PubMed

    Stray-Pedersen, Asbjørg; Cobben, Jan-Maarten; Prescott, Trine E; Lee, Sora; Cang, Chunlei; Aranda, Kimberly; Ahmed, Sohnee; Alders, Marielle; Gerstner, Thorsten; Aslaksen, Kathinka; Tétreault, Martine; Qin, Wen; Hartley, Taila; Jhangiani, Shalini N; Muzny, Donna M; Tarailo-Graovac, Maja; van Karnebeek, Clara D M; Lupski, James R; Ren, Dejian; Yoon, Grace

    2016-01-01

    Ion channel proteins are required for both the establishment of resting membrane potentials and the generation of action potentials. Hundreds of mutations in genes encoding voltage-gated ion channels responsible for action potential generation have been found to cause severe neurological diseases. In contrast, the roles of voltage-independent "leak" channels, important for the establishment and maintenance of resting membrane potentials upon which action potentials are generated, are not well established in human disease. UNC80 is a large component of the NALCN sodium-leak channel complex that regulates the basal excitability of the nervous system. Loss-of-function mutations of NALCN cause infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF). We report four individuals from three unrelated families who have homozygous missense or compound heterozygous truncating mutations in UNC80 and persistent hypotonia, encephalopathy, growth failure, and severe intellectual disability. Compared to control cells, HEK293T cells transfected with an expression plasmid containing the c.5098C>T (p.Pro1700Ser) UNC80 mutation found in one individual showed markedly decreased NALCN channel currents. Our findings demonstrate the fundamental significance of UNC80 and basal ionic conductance to human health. PMID:26708751

  4. ETHNICITY AND INCOME IMPACT ON BMI AND STATURE OF SCHOOL CHILDREN LIVING IN URBAN SOUTHERN MEXICO.

    PubMed

    Mendez, Nina; Barrera-Pérez, The Late Mario; Palma-Solis, Marco; Zavala-Castro, Jorge; Dickinson, Federico; Azcorra, Hugo; Prelip, Michael

    2016-03-01

    Obesity affects quality of life and increases the risk of morbidity and mortality. Mexico, a middle-income country, has a high prevalence of overweight and obesity among urban children. Merida is the most populated and growing city in southern Mexico with a mixed Mayan and non-Maya population. Local urbanization and access to industrialized foods have impacted the eating habits and physical activity of children, increasing the risk of overweight and obesity. This study aimed to contribute to the existing literature on the global prevalence of overweight and obesity and examined the association of parental income, ethnicity and nutritional status with body mass index (BMI) and height in primary school children in Merida. The heights and weights of 3243 children aged 6-12 from sixteen randomly selected schools in the city were collected between April and December 2012. Multinomial logistic regression models were used to examine differences in the prevalence of BMI and height categories (based on WHO reference values) by ethnicity and income levels. Of the total students, 1648 (50.9%) were overweight or obese. Stunting was found in 227 children (7%), while 755 (23.3%) were defined as having short stature. Combined stunting and overweight/obesity was found in 301 students (9.3%) and twelve (0.4%) were classified as stunted and of low weight. Having two Mayan surnames was inversely associated with having adequate height (OR=0.69, p<0.05) and the presence of two Maya surnames in children increased the odds of short stature and stunting. Children from lower income families had twice the odds of being stunted and obese. Overweight, obesity and short stature were frequent among the studied children. A significant proportion of Meridan children could face an increased risk of developing cardiovascular disease and its associated negative economic and social outcomes unless healthier habits are adopted. Action is needed to reduce the prevalence of obesity among southern Mexican families of all ethnic groups, particularly those of lower income. PMID:26041567

  5. Estimation of stature from the upper limb measurements of Sudanese adults.

    PubMed

    Ahmed, Altayeb Abdalla

    2013-05-10

    The estimation of stature using different parts of the body is crucial for formulating a biological profile during the process of personal identification, especially when mutilated and amputated limbs or body parts are found. Hand anthropometry has been reported in the literature including limited range of populations to be promising for stature prediction, but few studies have attempted to link upper limb anthropometry to stature. No previous research on this topic has been reported for modern Sudanese adults. Therefore, the aim of this study was to assess the relationship between the upper limb dimensions and stature in Sudanese adults and to develop regression formulae to estimate stature from these dimensions. The stature, upper arm length, ulnar length, wrist breadth, hand length, and hand breadth of 200 right-handed subjects, comprising 100 males and 100 females (aged 25-30 years), were measured. Initially, the data were analyzed using basic univariate analysis and independent t-tests; then sex-specific simple and multiple linear regression models were used to estimate stature. The results indicated significant sexual dimorphism for all measurements. There was a positive correlation between upper limb measurements and stature (p<0.01), which was highest for ulnar length. The accuracy of stature prediction ranged from ±3.54 to 5.85 cm. The use of multiple regression equations gave better results than simple regression equations. This study provides new forensic standards for stature estimation from the upper limb measurements of Sudanese adults. PMID:23528834

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

    PubMed

    Uhrová, Petra; Beňuš, Radoslav; Masnicová, Soňa; Obertová, Zuzana; Kramárová, Daniela; Kyselicová, Klaudia; Dörnhöferová, Michaela; Bodoriková, Silvia; Neščáková, Eva

    2015-03-01

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

  7. Concurrence of inv(7)(q11.2q32) and del(8)(p23.1) in a girl with congenital microcephaly, hypotonia, developmental delay, strabismus, hypernatremia, hypermagnesemia and deafness.

    PubMed

    Mahjoubi, F; Nasiri, F; Razazian, F

    2012-01-01

    The clinical manifestations and cytogenetic details of a de novo partial deletion of the short arm of chromosome 8, del(8)(p23.1), and inversion of long arm chromosome 7, inv(7)(q11.2q32), are described. The case was a 22 month old girl referred to our cytogenetic laboratory due to many abnormal features such as congenital microcephaly, hypotonia, developmental delay, strabismus, highly arched palate, hypernatremia, hypermagnesemia and deafness. Chromosome analysis revealed 46,XX, inv(7)(q11.2q32),del(8)(p23.1) de novo karyotype. The concurrence of these two abnormalities has not been reported previously. PMID:23072189

  8. De novo mutations in PURA are associated with hypotonia and developmental delay

    PubMed Central

    Tanaka, Akemi J.; Bai, Renkui; Cho, Megan T.; Anyane-Yeboa, Kwame; Ahimaz, Priyanka; Wilson, Ashley L.; Kendall, Fran; Hay, Beverly; Moss, Timothy; Nardini, Monica; Bauer, Mislen; Retterer, Kyle; Juusola, Jane; Chung, Wendy K.

    2015-01-01

    PURA is the leading candidate gene responsible for the developmental phenotype in the 5q31.3 microdeletion syndrome. De novo mutations in PURA were recently reported in 15 individuals with developmental features similar to the 5q31.3 microdeletion syndrome. Here we describe six unrelated children who were identified by clinical whole-exome sequencing (WES) to have novel de novo variants in PURA with a similar phenotype of hypotonia and developmental delay and frequently associated with seizures. The protein Purα (encoded by PURA) is involved in neuronal proliferation, dendrite maturation, and the transport of mRNA to translation sites during neuronal development. Mutations in PURA may alter normal brain development and impair neuronal function, leading to developmental delay and the seizures observed in patients with mutations in PURA. PMID:27148565

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

    PubMed

    Carson, Scott Alan

    2015-06-01

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

  10. Estimation of stature from dimensions of hands and feet in a North Indian population.

    PubMed

    Krishan, Kewal; Sharma, Abhilasha

    2007-08-01

    In medico-legal autopsies, establishing personal identity of the victims is often required. Estimation of stature from extremities and their parts plays an important role in identifying the dead in forensic examinations. The study examines the relationship between stature and dimensions of hands and feet among Rajputs of Himachal Pradesh -- a North Indian endogamous group. The purpose for understanding these examinations was the paucity in the literature of studies that allow the reconstruction of stature from various dimensions of hands and feet amongst Rajputs. Hand length, hand breadth, foot length and foot breadth of 246 subjects comprising 123 males and 123 females ranging in age from 17 to 20 years were taken independently on left and right side of each individual. Statistical analyses indicated that the bilateral variation was insignificant for all the measurements except hand breadth in both the sexes (P<0.01). Sex differences were found to be highly significant for all the measurements (P<0.01). Linear and multiple regression equations for stature estimation were calculated using the above mentioned variables. The correlation coefficients between stature and all the measurements of hands and feet were found to be positive and statistically significant. The highest correlation coefficient between stature and foot length and lowest SEE (standard error of estimate) indicate that the foot length provides highest reliability and accuracy in estimating stature of an unknown individual. The regression equations were checked for their accuracy by comparing the estimated stature and actual stature. PMID:17239650

  11. An Odontometric Approach for Estimation of Stature in Indians: Cross- Sectional Analysis

    PubMed Central

    Yadav, Sumit Kumar; Kedia, Neal Bharat; Singh, Abhinav Kumar

    2016-01-01

    Introduction Height/stature is one of the useful anthropometric parameter for individual identification. Correlation of stature to long bones, even fragmentary bones is frequently reported among various populations. As teeth have the advantage of being composed largely of hard tissue which is relatively indestructible, the careful study of these can enable reliable determination of stature of the person in life. Aim The present study was designed to elucidate the anthropometric correlation of tooth dimensions with stature and also devises regression formulae. Materials and Methods This study was carried out on 361 Indian students (151 males and 210 females) in the age range of 21- 45 years to estimate stature using odontometry. Stature and tooth measurements were taken on each partcipant following standard methods and techniques. Karl Pearson’s correlation co-efficient and linear regression was used to estimate stature. Results Regression analysis showed that the canine width can aid in estimation of stature as an adjunct when only teeth are available for identification. Conclusion Tooth dimensions can be used only as a supplementary approach for the estimation of stature but with caution. PMID:27134995

  12. Stature estimation based on dimensions of the bony pelvis and proximal femur.

    PubMed

    Giroux, Carolyn L; Wescott, Daniel J

    2008-01-01

    Pelin et al. recently showed that sacral height measured on lateral magnetic resonance images can be used with moderate accuracy to reconstruct stature in males. In most forensic anthropological cases, however, sacral dimensions must be obtained from dry bones. In this study, the relationship between stature and sacral height, hip height, and femur head diameter measured on dry bone was evaluated for American Blacks and Whites of both sexes (n = 247). There are significant correlation between stature and these three dimensions, but the results suggest that none of the dimensions predict stature with the accuracy needed to be useful in forensic anthropological investigations. PMID:18279242

  13. Variation in ancient Egyptian stature and body proportions.

    PubMed

    Zakrzewski, Sonia R

    2003-07-01

    Stature and the pattern of body proportions were investigated in a series of six time-successive Egyptian populations in order to investigate the biological effects on human growth of the development and intensification of agriculture, and the formation of state-level social organization. Univariate analyses of variance were performed to assess differences between the sexes and among various time periods. Significant differences were found both in stature and in raw long bone length measurements between the early semipastoral population and the later intensive agricultural population. The size differences were greater in males than in females. This disparity is suggested to be due to greater male response to poor nutrition in the earlier populations, and with the increasing development of social hierarchy, males were being provisioned preferentially over females. Little change in body shape was found through time, suggesting that all body segments were varying in size in response to environmental and social conditions. The change found in body plan is suggested to be the result of the later groups having a more tropical (Nilotic) form than the preceding populations. PMID:12772210

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

    PubMed Central

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

    2011-01-01

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

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

    MedlinePlus

    2 to 20 years: Boys NAME Stature-for-age and Weight-for-age percentiles RECORD # Mother’s Stature Date Age in cm 160 62 S 155 60 T 150 ... 14 15 16 17 18 19 20 BMI* AGE (YEARS) cm 95 190 90 185 75 180 ...

  16. The determination of correlation between stature and upper limb and hand measurements in Iranian adults.

    PubMed

    Mahakizadeh, S; -Ghoroghi, F Moghani; Moshkdanian, Gh; Mokhtari, T; Hassanzadeh, G

    2016-03-01

    Estimation of stature is an important issue, which is significantly considered in forensic anthropology. It will be difficult to predict the identification of an individual when only some parts of dead body are discovered following disasters or criminal events. The aim of this study was to assess the relationship between stature and upper limb and hand length in Iranian adults to generate regression formulae for stature estimation. Three anthropometric measurements; Stature, Upper Limb Length (ULL) and Hand Length (HL) were taken on subjects, comprising 142 male students (18-25 years) using standard measuring instruments. The data were analysed using SPSS 16. Then linear regression models were used to estimate stature. The results indicated a positive correlation between stature and upper limb and hand measurements. The correlation coefficient with upper limb length was r= 0.89 & p =0.0001 and with hand length was r= 0.78 & p =0.0001. In conclusion, we found a strong correlation between stature and upper limb and hand length. The regression analysis also showed that the Upper Limb Length give better prediction of stature compared to Hand length measurements. PMID:26795396

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

    PubMed Central

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

    2015-01-01

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

  18. Small nuclear ribonucleoprotein polypeptide N quantitative methylation analysis in infants with central hypotonia.

    PubMed

    Njera, Nayelli; Gonzlez, Lourdes; Prez Durand, Javier; Ruz, Elizabeth; Garibay, Nayely; Pastrana, Yadira; Barragan, Eduardo; Durn-R, Rosa Erndira; Queipo, Gloria

    2011-01-01

    Central hypotonic is one of the most difficult issues in neurology, ruling out neurogenetic syndromic causes is critical, Prader-Willi syndrome (PWS) it is the most frequent genetic syndrome, it is caused by the loss of expression of the paternal allele in a group of imprinted genes within 15q11-q13, and is characterized by severe prenatal and postnatal hypotonia. SNURF-SNRPN gene methylation detects 99% of the cases but fluorescent in situ hybridization (FISH) analysis is necessary to confirm chromosome microdeletions. The advantage of SNRP-quantitative strategy of methylated alleles is that it makes it possible to make the diagnosis and identify deletions and mosaicism in one reaction. In infants clinical diagnosis is difficult. It has been proposed that around 40% of hypotonic patients have PWS but an accurate percentage has not been established. Twenty-four central hypotonic infants were studied by this molecular strategy, showing 41.5% with the disease. This molecular approach also permitted calculation of gene dosage and detection of those cases with microdeletion. PMID:21932609

  19. Sexual dimorphism in stature (SDS), jealousy and mate retention.

    PubMed

    Brewer, Gayle; Riley, Charlene

    2010-01-01

    Previous research has investigated the manner in which absolute height impacts on jealousy and mate retention. Although relative height is also important, little information exists about the potential influence of sexual dimorphism in stature (SDS) within established relationships. The current study investigated the relationship between SDS and the satisfaction, jealousy and mate retention behaviors reported by men and women. Heterosexual men (n = 98) and women (n = 102) completed a questionnaire. Men in high SDS relationships reported the lowest levels of cognitive and behavioral jealousy, although the impact of SDS on relationship satisfaction was less clear. SDS was not associated with the overall use of mate retention strategies; SDS did however affect the use of three specific strategies (vigilance, monopolization of time, love and care). SDS did not affect women's relationship satisfaction, jealousy (cognitive, behavioral, or emotional) or the use of mate retention strategies (with the exception of resource display). PMID:22947818

  20. Do group-specific equations provide the best estimates of stature?

    PubMed

    Albanese, John; Osley, Stephanie E; Tuck, Andrew

    2016-04-01

    An estimate of stature can be used by a forensic anthropologist with the preliminary identification of an unknown individual when human skeletal remains are recovered. Fordisc is a computer application that can be used to estimate stature; like many other methods it requires the user to assign an unknown individual to a specific group defined by sex, race/ancestry, and century of birth before an equation is applied. The assumption is that a group-specific equation controls for group differences and should provide the best results most often. In this paper we assess the utility and benefits of using group-specific equations to estimate stature using Fordisc. Using the maximum length of the humerus and the maximum length of the femur from individuals with documented stature, we address the question: Do sex-, race/ancestry- and century-specific stature equations provide the best results when estimating stature? The data for our sample of 19th Century White males (n=28) were entered into Fordisc and stature was estimated using 22 different equation options for a total of 616 trials: 19th and 20th Century Black males, 19th and 20th Century Black females, 19th and 20th Century White females, 19th and 20th Century White males, 19th and 20th Century any, and 20th Century Hispanic males. The equations were assessed for utility in any one case (how many times the estimated range bracketed the documented stature) and in aggregate using 1-way ANOVA and other approaches. This group-specific equation that should have provided the best results was outperformed by several other equations for both the femur and humerus. These results suggest that group-specific equations do not provide better results for estimating stature while at the same time are more difficult to apply because an unknown must be allocated to a given group before stature can be estimated. PMID:26945108

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

    PubMed Central

    Lalani, SeemaR.; Zhang, Jing; Schaaf, ChristianP.; Brown, Chester W.; Magoulas, Pilar; Tsai, AnneChun-Hui; El-Gharbawy, Areeg; Wierenga, KlaasJ.; Bartholomew, Dennis; Fong, Chin-To; Barbaro-Dieber, Tina; Kukolich, MaryK.; Burrage, LindsayC.; Austin, Elise; Keller, Kory; Pastore, Matthew; Fernandez, Fabio; Lotze, Timothy; Wilfong, Angus; Purcarin, Gabriela; Zhu, Wenmiao; Craigen, WilliamJ.; McGuire, Marianne; Jain, Mahim; Cooney, Erin; Azamian, Mahshid; Bainbridge, MatthewN.; Muzny, DonnaM.; Boerwinkle, Eric; Person, RichardE.; Niu, Zhiyv; Eng, ChristineM.; Lupski, JamesR.; Gibbs, RichardA.; Beaudet, ArthurL.; Yang, Yaping; Wang, MengC.; Xia, Fan

    2014-01-01

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

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

    PubMed

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

    2014-11-01

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

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

    ERIC Educational Resources Information Center

    Alfred, Richard L.; Weissman, Julie

    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…

  4. Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

    PubMed

    Makrythanasis, Periklis; Kato, Mitsuhiro; Zaki, Maha S; Saitsu, Hirotomo; Nakamura, Kazuyuki; Santoni, Federico A; Miyatake, Satoko; Nakashima, Mitsuko; Issa, Mahmoud Y; Guipponi, Michel; Letourneau, Audrey; Logan, Clare V; Roberts, Nicola; Parry, David A; Johnson, Colin A; Matsumoto, Naomichi; Hamamy, Hanan; Sheridan, Eamonn; Kinoshita, Taroh; Antonarakis, Stylianos E; Murakami, Yoshiko

    2016-04-01

    Glycosylphosphatidylinositol (GPI) is a glycolipid that anchors >150 various proteins to the cell surface. At least 27 genes are involved in biosynthesis and transport of GPI-anchored proteins (GPI-APs). To date, mutations in 13 of these genes are known to cause inherited GPI deficiencies (IGDs), and all are inherited as recessive traits. IGDs mainly manifest as intellectual disability, epilepsy, coarse facial features, and multiple organ anomalies. These symptoms are caused by the decreased surface expression of GPI-APs or by structural abnormalities of GPI. Here, we present five affected individuals (from two consanguineous families from Egypt and Pakistan and one non-consanguineous family from Japan) who show intellectual disability, hypotonia, and early-onset seizures. We identified pathogenic variants in PIGG, a gene in the GPI pathway. In the consanguineous families, homozygous variants c.928C>T (p.Gln310(∗)) and c.2261+1G>C were found, whereas the Japanese individual was compound heterozygous for c.2005C>T (p.Arg669Cys) and a 2.4 Mb deletion involving PIGG. PIGG is the enzyme that modifies the second mannose with ethanolamine phosphate, which is removed soon after GPI is attached to the protein. Physiological significance of this transient modification has been unclear. Using B lymphoblasts from affected individuals of the Egyptian and Japanese families, we revealed that PIGG activity was almost completely abolished; however, the GPI-APs had normal surface levels and normal structure, indicating that the pathogenesis of PIGG deficiency is not yet fully understood. The discovery of pathogenic variants in PIGG expands the spectrum of IGDs and further enhances our understanding of this etiopathogenic class of intellectual disability. PMID:26996948

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed

    Hojo, T; Nakashima, T; Hirao, T

    1984-12-01

    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

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

    PubMed Central

    Fischer, Barbara; Mitteroecker, Philipp

    2015-01-01

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

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

    PubMed Central

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

    2012-01-01

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

  9. Four odontometric parameters as a forensic tool in stature estimation

    PubMed Central

    Khangura, Rajbir Kaur; Sircar, Keya; Grewal, Dilpreet Singh

    2015-01-01

    Objective: The study was conducted to investigate the possibility of predicting the height of an individual using selected odontometric parameters as a forensic tool. Materials and Methods: The study sample consisted of 100 subjects (50 male and 50 female). Measurements of intercanine width (IC), interpremolar width (IP), mesiodistal dimension of six permanent maxillary anterior teeth (CW), and arch length (AL, canine to canine) were made directly on the subject. The data collected were subjected to statistical analysis and a linear regression formula was obtained against each odontometric parameter. Results: Highly significant correlation was observed between height and intercanine width, interpremolar width (P < 0.0001), whereas correlation between height and the combined width of six anterior teeth and arch length was found to be not significant. The linear regression equation using formula y = c + mx was obtained for each odontometric parameter and also for combined parameters. Conclusion: Hence the study concludes that the two odontometric parameters such as intercanine width and interpremolar width can be used successfully to calculate the stature of an individual from fragmentary remains. PMID:26005302

  10. Voices of athletes reveal only modest acoustic correlates of stature

    NASA Astrophysics Data System (ADS)

    Owren, Michael J.; Anderson, John D.

    2005-04-01

    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.

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

    PubMed

    Jørkov, Marie Louise S

    2015-12-01

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

  12. Stature estimation from hand dimensions in a Han population of Southern China.

    PubMed

    Tang, Jianpin; Chen, Rui; Lai, Xiaoping

    2012-11-01

    To analyze the relationship between stature and hand dimensions for forensic applications, the stature and hand dimensions of 400 healthy adults aged between 20 and 25 years were measured in a Han population of Southern China. The mean values of the stature are 170.49 and 159.72 cm in the men and the women, respectively. The statistically significant differences between the right- and the left-hand dimensions were not observed in the men, whereas the bilateral differences are statistically significant in female hand dimensions. The correlation coefficients were found to be statistically significant for the hand dimensions in both the sexes. The hand length showed higher correlation coefficients than the hand breadth in both sexes. Linear and multiple regressions were developed in this study; multiple regressions showed higher correlation coefficients than linear regressions. Two regression models could be used to estimate the stature from the hand dimensions in this population. PMID:22536752

  13. Stature estimation from skull measurements using multidetector computed tomographic images: A Japanese forensic sample.

    PubMed

    Torimitsu, Suguru; Makino, Yohsuke; Saitoh, Hisako; Sakuma, Ayaka; Ishii, Namiko; Yajima, Daisuke; Inokuchi, Go; Motomura, Ayumi; Chiba, Fumiko; Yamaguchi, Rutsuko; Hashimoto, Mari; Hoshioka, Yumi; Iwase, Hirotaro

    2016-01-01

    The aim of this study was to assess the correlation between stature and cranial measurements in a contemporary Japanese population, using three-dimensional (3D) computed tomographic (CT) images. A total of 228 cadavers (123 males, 105 females) underwent postmortem CT scanning and subsequent forensic autopsy between May 2011 and April 2015. Five cranial measurements were taken from 3D CT reconstructed images that extracted only cranial data. The correlations between stature and each of the cranial measurements were assessed with Pearson product-moment correlation coefficients. Simple and multiple regression analyses showed significant correlations between stature and cranial measurements. In conclusion, cranial measurements obtained from 3D CT images may be useful for forensic estimation of the stature of Japanese individuals, particularly in cases where better predictors, such as long bones, are not available. PMID:26832382

  14. Tall stature as presenting symptom in a girl with triple X syndrome.

    PubMed

    Liebezeit, B U; Rohrer, T R; Singer, H; Doerr, H G

    2003-02-01

    An 11 year-old girl presented with 47,XXX karyotype. Our report emphasizes the fact that triple X syndrome has also to be considered in girls presenting with tall stature that is not explained by parental heights. PMID:12713263

  15. The long and the short.

    PubMed

    Vines, R

    1977-04-01

    The diagnostic problems posed by unusually great height at various ages are discussed, together with the principles governing treatment to curtail height by exhibition of oestrogens or androgens. Short stature is then discussed in terms of an initial approach to assessment and diagnosis, followed by a systematic one. The main agents used in treatment are briefly mentioned, together with some details concerning the use of human growth hormone (hGH). PMID:875791

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

    PubMed

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

    2015-10-01

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

  17. Stature estimation from body segment lengths in young adults--application to people with physical disabilities.

    PubMed

    Canda, Alicia

    2009-03-01

    Knowledge of stature is necessary for evaluating nutritional status and for correcting certain functional parameters. Measuring stature is difficult or impossible in bedridden or wheelchair-bound persons and may also be diminished by disorders of the spinal column or extremities. The purpose of this work is to develop estimation equations for young adult athletes for their subsequent application to disabled persons. The main sample comprised 445 male and 401 female sportspersons. Cross validation was also performed on 100 males and 101 females. All were Caucasian, the males being over 21 and the females over 18, and all practiced some kind of sport. The following variables were included: stature, sitting height, arm span, and lengths of upper arm, forearm, hand, thigh, lower leg, and foot. Simple and multiple regression analyses were performed using stature as a dependent variable and the others as predictive variables. The best equation for males (R(2)=0.978; RMSE=1.41 cm; PE=1.54 cm) was stature: 1.346+1.023 * lower leg+0.957 * sitting height+0.530 * thigh+0.493 * upper arm+0.228 * forearm. For females (R(2)=0.959; RMSE=1.57 cm; PE=1.25 cm) it was stature: 1.772+0.159 * arm span+0.957 * sitting height+0.424 * thigh+0.966 * lower leg. Alternative equations were developed for when a particular variable cannot be included for reasons of mobility, technical difficulty, or segment loss. PMID:19346667

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

    PubMed

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

    2013-03-10

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

  19. Cephalo-facial analysis to estimate stature in a Sudanese population.

    PubMed

    Ahmed, Altayeb Abdalla; Taha, Samah

    2016-05-01

    Medico-legal practitioners are often confronted with dismembered remains from which they need to develop a biological profile to establish identity. Accurate estimation of stature is an initial, crucial component of any meaningful medico-legal evaluation. However, sometimes only cephalo-facial remains are available. The most accurate statistical estimations of biological attributes are based on population-specific standards. Therefore, this study assessed the ability to estimate stature using 15 cephalo-facial measurements in 240 Sudanese adults (120 men, 120 women) aged 18-25years. Stature and cephalo-facial measurements of men were significantly higher than those of women. Most of the measurements were significantly correlated with stature (p<0.05), with better correlations for women than for men. The accuracy of stature estimation using sex-specific simple and stepwise multiple regression equations ranged from ±52.53 to ±60.28mm. This study provides new forensic standards for stature prediction in a Sudanese population. However, the equations should be used with caution in forensic cases when the more reliable body parts (e.g., limbs) are not available for human identification. PMID:27161929

  20. Linear growth in weight, stature, sitting height and leg length, and body proportions of Aymara school-children living in an hypoxic environment at high altitude in Chile.

    PubMed

    Dittmar, M

    1997-01-01

    A cross-sectional growth study has been carried out in Aymara Indians who live in the rural community of Putre located in the Chilean Andes at an altitude of 3,530 m. The sample comprises 153 school-children (77 boys and 76 girls), aged 6 to 19 years, who were born and raised at high altitude, well-nourished and healthy. Their weight, stature and sitting height were measured. From these measurements, total leg length, body mass index (BMI), index of corpulence and cormic index were calculated. The results demonstrate that in the Putre Aymara children the adolescent growth spurt for weight, stature, sitting height and leg length occurs earlier in girls than in boys. There is a significant sex dimorphism beginning at 14 years of age and continuing to adulthood with higher means in males. The physique of the Aymara can be characterized by a large body mass relative to stature as shown by the body mass index. High mean values for the cormic index indicate that the Aymara children have relatively short legs. Compared to reference values of the National Center for Health Statistics (NCHS), Aymara children of both sexes are shorter in stature and lighter in weight than US children at nearly all ages. These results are consistent with findings of other authors on Aymara samples from Chile, Bolivia and Peru. However, the Putre Aymara are heavier and taller than most comparative Aymara samples. While the observed inter-ethnic growth differences may be primarily due to differences in oxygen supply as a result of living at different altitudes, the intra-ethnic growth differences could more likely be attributed to dietary factors. PMID:9428192

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

    PubMed Central

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

    2014-01-01

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

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

    SciTech Connect

    1995-05-08

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

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

    PubMed Central

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

    2016-01-01

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

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

    PubMed

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

    2013-07-01

    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

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

    PubMed

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

    2015-11-01

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

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

    PubMed

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

    2016-01-01

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

  7. Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.

    PubMed

    Fleming, Leah; Lemmon, Monica; Beck, Natalie; Johnson, Maria; Mu, Weiyi; Murdock, David; Bodurtha, Joann; Hoover-Fong, Julie; Cohn, Ronald; Bosemani, Thangamadhan; Barañano, Kristin; Hamosh, Ada

    2016-01-01

    Mutations in PIGN, resulting in multiple congenital anomalies-hypotonia-seizures syndrome, a glycosylphosphatidylinositol anchor deficiency, have been published in four families to date. We report four patients from three unrelated families with epilepsy and hypotonia in whom whole exome sequencing yielded compound heterozygous variants in PIGN. As with previous reports Patients 1 and 2 (full siblings) have severe global developmental delay, gastroesophageal reflux disease, and minor dysmorphic features, including high palate, bitemporal narrowing, depressed nasal bridge, and micrognathia; Patient 3 had early global developmental delay with later progressive spastic quadriparesis, intellectual disability, and intractable generalized epilepsy; Patient 4 had bilateral narrowing as well but differed by the presence of hypertelorism, markedly narrow palpebral fissures, and long philtrum, had small distal phalanges of fingers 2, 3, and 4, absent distal phalanx of finger 5 and similar toe anomalies, underdeveloped nails, unusual brain anomalies, and a more severe early clinical course. These patients expand the known clinical spectrum of the disease. The severity of the presentations in conjunction with the patients' mutations suggest a genotype-phenotype correlation in which congenital anomalies are only seen in patients with biallelic loss-of-function. In addition, PIGN mutations appear to be panethnic and may be an underappreciated cause of epilepsy. © 2015 Wiley Periodicals, Inc. PMID:26394714

  8. Mutations in NALCN Cause an Autosomal-Recessive Syndrome with Severe Hypotonia, Speech Impairment, and Cognitive Delay

    PubMed Central

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

    2013-01-01

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

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

    PubMed Central

    Mattsson, Hannele; Eklund, Niina; Gandin, Ilaria; Nutile, Teresa; Jackson, Anne U.; Schurmann, Claudia; Smith, Albert V.; Zhang, Weihua; Okada, Yukinori; Stančáková, Alena; Faul, Jessica D.; Zhao, Wei; Bartz, Traci M.; Concas, Maria Pina; Franceschini, Nora; Enroth, Stefan; Vitart, Veronique; Trompet, Stella; Guo, Xiuqing; Chasman, Daniel I.; O’Connel, Jeffery R.; Corre, Tanguy; Nongmaithem, Suraj S.; Chen, Yuning; Mangino, Massimo; Ruggiero, Daniela; Traglia, Michela; Farmaki, Aliki-Eleni; Kacprowski, Tim; Bjonnes, Andrew; van der Spek, Ashley; Wu, Ying; Giri, Anil K.; Yanek, Lisa R.; Wang, Lihua; Hofer, Edith; Rietveld, Cornelius A.; McLeod, Olga; Cornelis, Marilyn C.; Pattaro, Cristian; Verweij, Niek; Baumbach, Clemens; Abdellaoui, Abdel; Warren, Helen R.; Vuckovic, Dragana; Mei, Hao; Bouchard, Claude; Perry, John R.B.; Cappellani, Stefania; Mirza, Saira S.; Benton, Miles C.; Broeckel, Ulrich; Medland, Sarah E.; Lind, Penelope A.; Malerba, Giovanni; Drong, Alexander; Yengo, Loic; Bielak, Lawrence F.; Zhi, Degui; van der Most, Peter J.; Shriner, Daniel; Mägi, Reedik; Hemani, Gibran; Karaderi, Tugce; Wang, Zhaoming; Liu, Tian; Demuth, Ilja; Zhao, Jing Hua; Meng, Weihua; Lataniotis, Lazaros; van der Laan, Sander W.; Bradfield, Jonathan P.; Wood, Andrew R.; Bonnefond, Amelie; Ahluwalia, Tarunveer S.; Hall, Leanne M.; Salvi, Erika; Yazar, Seyhan; Carstensen, Lisbeth; de Haan, Hugoline G.; Abney, Mark; Afzal, Uzma; Allison, Matthew A.; Amin, Najaf; Asselbergs, Folkert W.; Bakker, Stephan J.L.; Barr, R. Graham; Baumeister, Sebastian E.; Benjamin, Daniel J.; Bergmann, Sven; Boerwinkle, Eric; Bottinger, Erwin P.; Campbell, Archie; Chakravarti, Aravinda; Chan, Yingleong; Chanock, Stephen J.; Chen, Constance; Chen, Y.-D. Ida; Collins, Francis S.; Connell, John; Correa, Adolfo; Cupples, L. Adrienne; Smith, George Davey; Davies, Gail; Dörr, Marcus; Ehret, Georg; Ellis, Stephen B.; Feenstra, Bjarke; Feitosa, Mary F.; Ford, Ian; Fox, Caroline S.; Frayling, Timothy M.; Friedrich, Nele; Geller, Frank; Scotland, Generation; Gillham-Nasenya, Irina; Gottesman, Omri; Graff, Misa; Grodstein, Francine; Gu, Charles; Haley, Chris; Hammond, Christopher J.; Harris, Sarah E.; Harris, Tamara B.; Hastie, Nicholas D.; Heard-Costa, Nancy L.; Heikkilä, Kauko; Hocking, Lynne J.; Homuth, Georg; Hottenga, Jouke-Jan; Huang, Jinyan; Huffman, Jennifer E.; Hysi, Pirro G.; Ikram, M. Arfan; Ingelsson, Erik; Joensuu, Anni; Johansson, Åsa; Jousilahti, Pekka; Jukema, J. Wouter; Kähönen, Mika; Kamatani, Yoichiro; Kanoni, Stavroula; Kerr, Shona M.; Khan, Nazir M.; Koellinger, Philipp; Koistinen, Heikki A.; Kooner, Manraj K.; Kubo, Michiaki; Kuusisto, Johanna; Lahti, Jari; Launer, Lenore J.; Lea, Rodney A.; Lehne, Benjamin; Lehtimäki, Terho; Liewald, David C.M.; Lind, Lars; Loh, Marie; Lokki, Marja-Liisa; London, Stephanie J.; Loomis, Stephanie J.; Loukola, Anu; Lu, Yingchang; Lumley, Thomas; Lundqvist, Annamari; Männistö, Satu; Marques-Vidal, Pedro; Masciullo, Corrado; Matchan, Angela; Mathias, Rasika A.; Matsuda, Koichi; Meigs, James B.; Meisinger, Christa; Meitinger, Thomas; Menni, Cristina; Mentch, Frank D.; Mihailov, Evelin; Milani, Lili; Montasser, May E.; Montgomery, Grant W.; Morrison, Alanna; Myers, Richard H.; Nadukuru, Rajiv; Navarro, Pau; Nelis, Mari; Nieminen, Markku S.; Nolte, Ilja M.; O’Connor, George T.; Ogunniyi, Adesola; Padmanabhan, Sandosh; Palmas, Walter R.; Pankow, James S.; Patarcic, Inga; Pavani, Francesca; Peyser, Patricia A.; Pietilainen, Kirsi; Poulter, Neil; Prokopenko, Inga; Ralhan, Sarju; Redmond, Paul; Rich, Stephen S.; Rissanen, Harri; Robino, Antonietta; Rose, Lynda M.; Rose, Richard; Sala, Cinzia; Salako, Babatunde; Salomaa, Veikko; Sarin, Antti-Pekka; Saxena, Richa; Schmidt, Helena; Scott, Laura J.; Scott, William R.; Sennblad, Bengt; Seshadri, Sudha; Sever, Peter; Shrestha, Smeeta; Smith, Blair H.; Smith, Jennifer A.; Soranzo, Nicole; Sotoodehnia, Nona; Southam, Lorraine; Stanton, Alice V.; Stathopoulou, Maria G.; Strauch, Konstantin; Strawbridge, Rona J.; Suderman, Matthew J.; Tandon, Nikhil; Tang, Sian-Tsun; Taylor, Kent D.; Tayo, Bamidele O.; Töglhofer, Anna Maria; Tomaszewski, Maciej; Tšernikova, Natalia; Tuomilehto, Jaakko; Uitterlinden, Andre G.; Vaidya, Dhananjay; van Hylckama Vlieg, Astrid; van Setten, Jessica; Vasankari, Tuula; Vedantam, Sailaja; Vlachopoulou, Efthymia; Vozzi, Diego; Vuoksimaa, Eero; Waldenberger, Melanie; Ware, Erin B.; Wentworth-Shields, William; Whitfield, John B.; Wild, Sarah; Willemsen, Gonneke; Yajnik, Chittaranjan S.; Yao, Jie; Zaza, Gianluigi; Zhu, Xiaofeng; Project, The BioBank Japan; Salem, Rany M.; Melbye, Mads; Bisgaard, Hans; Samani, Nilesh J.; Cusi, Daniele; Mackey, David A.; Cooper, Richard S.; Froguel, Philippe; Pasterkamp, Gerard; Grant, Struan F.A.; Hakonarson, Hakon; Ferrucci, Luigi; Scott, Robert A.; Morris, Andrew D.; Palmer, Colin N.A.; Dedoussis, George; Deloukas, Panos; Bertram, Lars; Lindenberger, Ulman; Berndt, Sonja I.; Lindgren, Cecilia M.; Timpson, Nicholas J.; Tönjes, Anke; Munroe, Patricia B.; Sørensen, Thorkild I.A.; Rotimi, Charles N.; Arnett, Donna K.; Oldehinkel, Albertine J.; Kardia, Sharon L.R.; Balkau, Beverley; Gambaro, Giovanni; Morris, Andrew P.; Eriksson, Johan G.; Wright, Margie J.; Martin, Nicholas G.; Hunt, Steven C.; Starr, John M.; Deary, Ian J.; Griffiths, Lyn R.; Tiemeier, Henning; Pirastu, Nicola; Kaprio, Jaakko; Wareham, Nicholas J.; Pérusse, Louis; Wilson, James G.; Girotto, Giorgia; Caulfield, Mark J.; Raitakari, Olli; Boomsma, Dorret I.; Gieger, Christian; van der Harst, Pim; Hicks, Andrew A.; Kraft, Peter; Sinisalo, Juha; Knekt, Paul; Johannesson, Magnus; Magnusson, Patrik K.E.; Hamsten, Anders; Schmidt, Reinhold; Borecki, Ingrid B.; Vartiainen, Erkki; Becker, Diane M.; Bharadwaj, Dwaipayan; Mohlke, Karen L.; Boehnke, Michael; van Duijn, Cornelia M.; Sanghera, Dharambir K.; Teumer, Alexander; Zeggini, Eleftheria; Metspalu, Andres; Gasparini, Paolo; Ulivi, Sheila; Ober, Carole; Toniolo, Daniela; Rudan, Igor; Porteous, David J.; Ciullo, Marina; Spector, Tim D.; Hayward, Caroline; Dupuis, Josée; Loos, Ruth J.F.; Wright, Alan F.; Chandak, Giriraj R.; Vollenweider, Peter; Shuldiner, Alan; Ridker, Paul M.; Rotter, Jerome I.; Sattar, Naveed; Gyllensten, Ulf; North, Kari E.; Pirastu, Mario; Psaty, Bruce M.; Weir, David R.; Laakso, Markku; Gudnason, Vilmundur; Takahashi, Atsushi; Chambers, John C.; Kooner, Jaspal S.; Strachan, David P.; Campbell, Harry; Hirschhorn, Joel N.; Perola, Markus

    2015-01-01

    Homozygosity has long been associated with rare, often devastating, Mendelian disorders1 and Darwin was one of the first to recognise that inbreeding reduces evolutionary fitness2. However, the effect of the more distant parental relatedness common in modern human populations is less well understood. Genomic data now allow us to investigate the effects of homozygosity on traits of public health importance by observing contiguous homozygous segments (runs of homozygosity, ROH), which are inferred to be homozygous along their complete length. Given the low levels of genome-wide homozygosity prevalent in most human populations, information is required on very large numbers of people to provide sufficient power3,4. Here we use ROH to study 16 health-related quantitative traits in 354,224 individuals from 102 cohorts and find statistically significant associations between summed runs of homozygosity (SROH) and four complex traits: height, forced expiratory lung volume in 1 second (FEV1), general cognitive ability (g) and educational attainment (nominal p<1 × 10−300, 2.1 × 10−6, 2.5 × 10−10, 1.8 × 10−10). In each case increased homozygosity was associated with decreased trait value, equivalent to the offspring of first cousins being 1.2 cm shorter and having 10 months less education. Similar effect sizes were found across four continental groups and populations with different degrees of genome-wide homozygosity, providing convincing evidence for the first time that homozygosity, rather than confounding, directly contributes to phenotypic variance. Contrary to earlier reports in substantially smaller samples5,6, no evidence was seen of an influence of genome-wide homozygosity on blood pressure and low density lipoprotein (LDL) cholesterol, or ten other cardio-metabolic traits. Since directional dominance is predicted for traits under directional evolutionary selection7, this study provides evidence that increased stature and cognitive function have been positively selected in human evolution, whereas many important risk factors for late-onset complex diseases may not have been. PMID:26131930

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

    PubMed

    Zhang, Kui; Chang, Yun-feng; Fan, Fei; Deng, Zhen-hua

    2015-11-01

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

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

    PubMed Central

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

    2012-01-01

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

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed Central

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

    2014-01-01

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

  14. Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.

    PubMed

    Angebault, Claire; Charif, Majida; Guegen, Naig; Piro-Megy, Camille; Mousson de Camaret, Benedicte; Procaccio, Vincent; Guichet, Pierre-Olivier; Hebrard, Maxime; Manes, Gael; Leboucq, Nicolas; Rivier, François; Hamel, Christian P; Lenaers, Guy; Roubertie, Agathe

    2015-07-15

    Mitochondrial complex I (CI) deficiencies are causing debilitating neurological diseases, among which, the Leber Hereditary Optic Neuropathy and Leigh Syndrome are the most frequent. Here, we describe the first germinal pathogenic mutation in the NDUFA13/GRIM19 gene encoding a CI subunit, in two sisters with early onset hypotonia, dyskinesia and sensorial deficiencies, including a severe optic neuropathy. Biochemical analysis revealed a drastic decrease in CI enzymatic activity in patient muscle biopsies, and reduction of CI-driven respiration in fibroblasts, while the activities of complex II, III and IV were hardly affected. Western blots disclosed that the abundances of NDUFA13 protein, CI holoenzyme and super complexes were drastically reduced in mitochondrial fractions, a situation that was reproduced by silencing NDUFA13 in control cells. Thus, we established here a correlation between the first mutation yet identified in the NDUFA13 gene, which induces CI instability and a severe but slowly evolving clinical presentation affecting the central nervous system. PMID:25901006

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

    ERIC Educational Resources Information Center

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

    2011-01-01

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

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

    PubMed

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

    2015-03-01

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

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

    PubMed Central

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

    2005-01-01

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

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

    PubMed Central

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

    2013-01-01

    Objective To determine the incidence of pathology during routine screening of healthy short children, testing adherence to a consensus statement on the diagnosis and treatment of children with idiopathic short stature, and the cost per identified diagnosis resulting from comprehensive screening. Study design Retrospective chart review of 1373 consecutive short stature referrals evaluated at the Cincinnati Children's Hospital Medical Center Pediatric Endocrinology Clinic between 2008 and 2011. We identified 235 patients with a height of <3rd percentile, negative history and review of systems, and normal physical examination. Outcome measures were incidence of pathology detection, diagnostic group characteristics, clinicians' adherence to testing guidelines, and screening costs. ANOVA and χ2 were used to analyze the data. Results Nearly 99% of patients were diagnosed as possible variants of normal growth: 23% with familial short stature, 41% with constitutional delay of growth and maturation, and 36% with idiopathic short stature. The incidence of newly diagnosed pathology was 1.3%: 1 patient with biopsy-proved celiac disease, 1 with unconfirmed celiac disease, and 1 with potential insulin-like growth factor I receptor defect. On average, each patient had 64.3% of the recommended tests for age and sex; 2.1% of patients had all of the recommended testing. The total screening tests costs were $315 321, yielding $105 107 per new diagnosis entertained. Conclusions Healthy short children do not warrant nondirected, comprehensive screening. Future guidelines for evaluating short stature should include patient-specific testing. PMID:23706358

  19. Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.

    PubMed

    Bhoj, Elizabeth J; Li, Dong; Harr, Margaret; Edvardson, Shimon; Elpeleg, Orly; Chisholm, Elizabeth; Juusola, Jane; Douglas, Ganka; Guillen Sacoto, Maria J; Siquier-Pernet, Karine; Saadi, Abdelkrim; Bole-Feysot, Christine; Nitschke, Patrick; Narravula, Alekhya; Walke, Maria; Horner, Michele B; Day-Salvatore, Debra-Lynn; Jayakar, Parul; Vergano, Samantha A Schrier; Tarnopolsky, Mark A; Hegde, Madhuri; Colleaux, Laurence; Crino, Peter; Hakonarson, Hakon

    2016-04-01

    Through an international multi-center collaboration, 13 individuals from nine unrelated families and affected by likely pathogenic biallelic variants in TBC1-domain-containing kinase (TBCK) were identified through whole-exome sequencing. All affected individuals were found to share a core phenotype of intellectual disability and hypotonia, and many had seizures and showed brain atrophy and white-matter changes on neuroimaging. Minor non-specific facial dysmorphism was also noted in some individuals, including multiple older children who developed coarse features similar to those of storage disorders. TBCK has been shown to regulate the mammalian target of rapamycin (mTOR) signaling pathway, which is also stimulated by exogenous leucine supplementation. TBCK was absent in cells from affected individuals, and decreased phosphorylation of phospho-ribosomal protein S6 was also observed, a finding suggestive of downregulation of mTOR signaling. Lastly, we demonstrated that activation of the mTOR pathway in response to L-leucine supplementation was retained, suggesting a possible avenue for directed therapies for this condition. PMID:27040691

  20. De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.

    PubMed

    Shang, Linshan; Henderson, Lindsay B; Cho, Megan T; Petrey, Donald S; Fong, Chin-To; Haude, Katrina M; Shur, Natasha; Lundberg, Julie; Hauser, Natalie; Carmichael, Jason; Innis, Jeffrey; Schuette, Jane; Wu, Yvonne W; Asaikar, Shailesh; Pearson, Margaret; Folk, Leandra; Retterer, Kyle; Monaghan, Kristin G; Chung, Wendy K

    2016-01-01

    Protein phosphatase 2A (PP2A) is a heterotrimeric protein serine/threonine phosphatase and is involved in a broad range of cellular processes. PPP2R5D is a regulatory B subunit of PP2A and plays an important role in regulating key neuronal and developmental regulation processes such as PI3K/AKT and glycogen synthase kinase 3 beta (GSK3β)-mediated cell growth, chromatin remodeling, and gene transcriptional regulation. Using whole-exome sequencing (WES), we identified four de novo variants in PPP2R5D in a total of seven unrelated individuals with intellectual disability (ID) and other shared clinical characteristics, including autism spectrum disorder, macrocephaly, hypotonia, seizures, and dysmorphic features. Among the four variants, two have been previously reported and two are novel. All four amino acids are highly conserved among the PP2A subunit family, and all change a negatively charged acidic glutamic acid (E) to a positively charged basic lysine (K) and are predicted to disrupt the PP2A subunit binding and impair the dephosphorylation capacity. Our data provides further support for PPP2R5D as a genetic cause of ID. PMID:26576547

  1. Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.

    PubMed

    Harel, Tamar; Yesil, Gozde; Bayram, Yavuz; Coban-Akdemir, Zeynep; Charng, Wu-Lin; Karaca, Ender; Al Asmari, Ali; Eldomery, Mohammad K; Hunter, Jill V; Jhangiani, Shalini N; Rosenfeld, Jill A; Pehlivan, Davut; El-Hattab, Ayman W; Saleh, Mohammed A; LeDuc, Charles A; Muzny, Donna; Boerwinkle, Eric; Gibbs, Richard A; Chung, Wendy K; Yang, Yaping; Belmont, John W; Lupski, James R

    2016-03-01

    The paradigm of a single gene associated with one specific phenotype and mode of inheritance has been repeatedly challenged. Genotype-phenotype correlations can often be traced to different mutation types, localization of the variants in distinct protein domains, or the trigger of or escape from nonsense-mediated decay. Using whole-exome sequencing, we identified homozygous variants in EMC1 that segregated with a phenotype of developmental delay, hypotonia, scoliosis, and cerebellar atrophy in three families. In addition, a de novo heterozygous EMC1 variant was seen in an individual with a similar clinical and MRI imaging phenotype. EMC1 encodes a member of the endoplasmic reticulum (ER)-membrane protein complex (EMC), an evolutionarily conserved complex that has been proposed to have multiple roles in ER-associated degradation, ER-mitochondria tethering, and proper assembly of multi-pass transmembrane proteins. Perturbations of protein folding and organelle crosstalk have been implicated in neurodegenerative processes including cerebellar atrophy. We propose EMC1 as a gene in which either biallelic or monoallelic variants might lead to a syndrome including intellectual disability and preferential degeneration of the cerebellum. PMID:26942288

  2. De Novo Missense Variants in PPP2R5D Are Associated with Intellectual Disability, Macrocephaly, Hypotonia, and Autism

    PubMed Central

    Shang, Linshan; Henderson, Lindsay B.; Cho, Megan T.; Petrey, Donald S.; Fong, Chin-To; Haude, Katrina M.; Shur, Natasha; Lundberg, Julie; Hauser, Natalie; Carmichael, Jason; Innis, Jeffrey; Schuette, Jane; Wu, Yvonne W.; Asaikar, Shailesh; Pearson, Margaret; Folk, Leandra; Retterer, Kyle; Monaghan, Kristin G.; Chung, Wendy K.

    2016-01-01

    Protein phosphatase 2A (PP2A) is a heterotrimeric protein serine/threonine phosphatase and is involved in a broad range of cellular processes. PPP2R5D is a regulatory B subunit of PP2A and plays an important role in regulating key neuronal and developmental regulation processes such as PI3K/AKT and GSK3β-mediated cell growth, chromatin remodeling and gene transcriptional regulation. Using WES, we identified four de novo variants in PPP2R5D in a total of seven unrelated individuals with ID and other shared clinical characteristics, including autism spectrum disorder, macrocephaly, hypotonia, seizures and dysmorphic features. Among the four variant, two have been previously reported, and two are novel. All four amino acids are highly conserved among the PP2A subunit family, and all change a negatively charged acidic glutamic acid (E) to a positively charged basic lysine (K), and are predicted to disrupt the PP2A subunits binding and impair the dephosphorylation capacity. Our data provides further support for PPP2R5D as a genetic cause of ID. PMID:26576547

  3. Physical Stature Decline and the Health Status of the Elderly Population in England

    PubMed Central

    Fernihough, Alan; McGovern, Mark E.

    2014-01-01

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

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

    PubMed

    Scoleri, Tony; Lucas, Teghan; Henneberg, Maciej

    2014-04-01

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

  5. Estimation of stature from hand dimensions of north and south Indians.

    PubMed

    Rastogi, Prateek; Nagesh, K R; Yoganarasimha, K

    2008-07-01

    The present study was undertaken to predict the stature of a person using hand length and breadth. The study includes 500 right-hand dominant medical students aged between 20 and 30 years, from northern and southern parts of India, studying in Kasturba medical college, Manipal, India. Hand length was measured 'between the distal wrist crease and the tip of middle finger (HL-1)' and 'between the mid-point of inter-styloid line to the tip of middle finger (HL-2)'. Hand breadth was measured between radial side of the second metacarpophalyngeal joint and ulnar side of the fifth metacarpophalyngeal joint (HB). No significant difference was present in hand dimensions between north and south Indians. When compared between both hands, right-hand dimensions were larger than the left hand, with statistically significant difference in HL-2 and HB. Linear regression equations using hand length is more helpful in estimating stature than the hand breadth. The correlation coefficients ranged from 0.673 to 0.665 and 0.740 to 0.732 in north Indian males and females, respectively. Whereas in south Indians, it ranged from 0.752 to 0.732 and 0.701 to 0.691 in males and females, respectively. Multiple regression equations give better results than linear regression equations. HL-2 gives more accurate results in stature estimation than the HL-1. PMID:18291701

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

    PubMed

    Jee, Soo-Chan; Yun, Myung Hwan

    2015-10-01

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

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

    PubMed Central

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

    2014-01-01

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

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

    PubMed

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

    2011-07-01

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

  9. Experience of severe desaturation during anesthetic induction period in an obese adult patient with Prader-Willi syndrome -A case report-.

    PubMed

    Choi, Joon Woo; Kim, Eun-Ju; Min, Byung Woo; Ban, Jong Seouk; Lee, Sang Gon; Lee, Ji-Hyang

    2012-02-01

    Prader-Willi syndrome is characterized by infantile hypotonia, childhood-onset obesity, short stature, mental retardation, hyperphagia, hypogonadism. After infantile hypotonia phase, patient is prone to morbid obesity due to hyperphagia. Complications associated with morbid obesity are recognized as the main risk factors for death the lifespan of patients with Prader-Willi syndrome. We experienced desaturation and bronchospasm during arteriovenous fistula surgery in an obese adult with Prader-Willi syndrome. PMID:22379576

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

    PubMed

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

    2016-01-01

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

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

    PubMed Central

    Geetha, GN; Swathi

    2015-01-01

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

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

    PubMed

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

    2015-05-01

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

  13. Neonatal seizures and severe hypotonia in a male infant suffering from a defect in peroxisomal beta-oxidation.

    PubMed

    Van Maldergem, L; Espeel, M; Wanders, R J; Roels, F; Gerard, P; Scalais, E; Mannaerts, G P; Casteels, M; Gillerot, Y

    1992-01-01

    In this paper, we describe a baby male born to healthy non-consanguineous parents presenting at birth with hypotonia and seizures. Additional salient clinical features included the development of glaucoma, the absence of significant facial dysmorphism and the absence of liver enlargement or renal cysts. The patient died at the age of 3 months. At autopsy, liver fibrosis and kidney glomerulosclerosis were noted. Neuropathological findings included pachygyria of the olivary nuclei and cerebellar neuronal heterotopias. There was no evidence for a demyelinating process. Biochemically, the patient was found to have elevated plasma levels of very-long-chain fatty acids (VLCFA) and abnormal bile acid intermediates, whereas other indicators of peroxisomal function (plasmalogen biosynthesis and plasma pipecolic acid) were normal. Catalase staining of a liver biopsy specimen revealed peroxisomes to be present in normal numbers, although some were abnormally large. Trilamellar inclusions typical of a peroxisomal fatty acid oxidation defect were present in macrophages. Indeed, beta-oxidation of the very-long-chain fatty acid hexacosanoic acid (C26:0) was found to be strongly deficient. Fatty acyl-CoA oxidase activity in the patient's liver was normal, however. Furthermore immunocytochemical studies using antibodies against acyl-CoA oxidase, bifunctional protein and peroxisomal thiolase, revealed the normal localization of all three enzyme proteins within the peroxisomes. We suggest that our patient has a selective peroxisomal beta-oxidation defect, a recently identified heterogeneous group of early-onset peroxisomal disorders distinct from the Zellweger syndrome and other generalized peroxisomal disorders. PMID:1483048

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

    PubMed Central

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

    2015-01-01

    Objective We aimed to evaluate the association of birth weight SDS with insulin resistance, blood pressure, and auxology in children and adolescents born 2342 weeks of gestation. Methods We studied 143 singleton children and adolescents aged 9.3 3.3 years (range 2.017.9 years). Clinical assessments included insulin resistance measured by HOMA2-IR, auxology, and blood pressure from sphygmomanometer measurements. Continuous associations were examined, and stratified analyses carried out. For the latter, participants were divided into those of below-average birth weight (BABW, <0 SDS) and above-average birth weight (AABW, ?0 SDS). Results Irrespective of gestational age, lower birth weight SDS was associated with progressively greater HOMA2-IR (p<0.0001) and higher fasting insulin concentrations (p<0.0001). Decreasing birth weight SDS was associated with higher systolic (p = 0.011) and diastolic (p = 0.006) blood pressure. Lower birth weight SDS was also associated with decreasing stature (p<0.010). The BABW group was ~40% more insulin resistant than AABW participants (p = 0.004), with the former also displaying fasting insulin concentrations 37% higher (p = 0.004). BABW participants were 0.54 SDS shorter than those of higher birth weight (p = 0.002). On average, BABW participants had not met their genetic potential, tending to be shorter than their parents (p = 0.065). As a result, when corrected for parents' heights, BABW participants were 0.62 SDS shorter than those born of higher birth weight (p = 0.001). Sub-group analyses on participants born appropriate-for-gestational-age (n = 128) showed that associations of birth weight SDS with both insulin resistance and stature remained (although attenuated). Conclusion Decreasing birth weight SDS (even within the normal range) is associated with adverse metabolic profile and lower stature in children and adolescents. PMID:25760717

  15. [Bone dysplasia with short limb].

    PubMed

    Kobayashi, Daisuke; Satsuma, Shinichi

    2008-12-01

    We described the condition of the disease, clinical appearance, X-rays appearance, orthopaedic problems about Achondroplasia, Pseudoachondroplasia, Metaphyseal Chondrodysplasia (Schmid type) , Mesomelic dysplasia (Dyschondrosteosis) as a representative bone dysplasia who present a short stature with short limbs. Clinical features are almost evident at birth in the patient with Achondroplasia. However, in other cases, there is no specific finding on clinically and radiologically at birth. Clinical and radiological findings develop slowly from period for childhood. It is considered that the diagnosis is not difficult since each of them have characteristic clinical features and X-rays views, only if examining them carefully. Correct and rapid diagnosis would be important for having a good relationship with patients. PMID:19043194

  16. An alternative approach for estimating stature from long bones that is not population- or group-specific.

    PubMed

    Albanese, John; Tuck, Andrew; Gomes, José; Cardoso, Hugo F V

    2016-02-01

    An accurate and precise estimate of stature can be very useful in the analysis of human remains in forensic cases. A problem with many stature estimation methods is that an unknown individual must first be assigned to a specific group before a method can be applied. Group membership has been defined by sex, age, year of birth, race, ancestry, continental origin, nationality or a combination of these criteria. Univariate and multivariate sex-specific and generic equations are presented here that do not require an unknown individual to be assigned to a group before stature is estimated. The equations were developed using linear regression with a sample (n=244) from the Terry Collection and tested using independent samples from the Forensic Anthropology Databank (n=136) and the Lisbon Collection (n=85). Tests with these independent samples show that (1) the femur provides the best univariate results; (2) the best multivariate equation includes the humerus, femur and tibia lengths; (3) a generic equation that does not require an unknown to first be assigned to a given category provides the best results most often; (4) a population-specific equation does not provide better results for estimating stature; (5) sex-specific equations can provide slightly better results in some cases; however, estimating the wrong sex can have a negative impact on precision and accuracy. With these equations, stature can be estimated independently of age at death, sex or group membership. PMID:26750990

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

    PubMed

    Ward, W Peter

    2013-12-01

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

  18. Diagnostic Work-up and Follow-up in Children with Tall Stature: A Simplified Algorithm for Clinical Practice

    PubMed Central

    Stalman, Susanne E.; Pons, Anke; Wit, Jan M.; Kamp, Gerdine A.; Plötz, Frans B.

    2015-01-01

    Objective: No evidence-based guideline has been published about optimal referral criteria and diagnostic work-up for tall stature in children. The aim of our study was to describe auxological and clinical characteristics of a cohort of children referred for tall stature, to identify potential candidates for adult height reduction, and to use these observations for developing a simple algorithm for diagnostic work-up and follow-up in clinical practice. Methods: Data regarding family and medical history, auxological measurements, bone age development, physical examination, additional diagnostic work-up, and final diagnosis were collected from all children referred for tall stature, irrespective of their actual height standard deviation score (HSDS). Predicted adult height (PAH) was calculated in children above 10 years. Characteristics of patients with an indication for adult height reduction were determined. Results: Hundred thirty-two children (43 boys) with a mean ± SD age of 10.9±3.2 (range 0.5-16.9) years were included in the study. Fifty percent of the referred children had an HSDS ≤2.0 (n=66). Two pathological cases (1.5%) were found (HSDS 2.3 and 0.9). Tall children without pathology were diagnosed as idiopathic tall, further classified as familial tall stature (80%), constitutional advancement of growth (5%), or unexplained non-familial tall stature (15%). Of the 74 children in whom PAH was calculated, epiphysiodesis was considered in six (8%) and performed in four (5%) patients. Conclusion: The incidence of pathology was very low in children referred for tall stature, and few children were potential candidates for adult height reduction. We propose a simple diagnostic algorithm for clinical practice. PMID:26777036

  19. The effects of muscle hypotonia and weakness on balance: a study on Prader-Willi and Ehlers-Danlos syndrome patients.

    PubMed

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

    2011-01-01

    Prader-Willi syndrome (PWS) and Ehlers-Danlos syndrome (EDS) are two different genetical disorders both characterized, among other features, by muscular hypotonia. Postural control seems to be impaired in both conditions. The aim of the present study was to quantitatively compare postural control in adult PWS and EDS using stabilometric platform to unveil possible common determinants of impaired balance. We enrolled 11 PWS and 21 EDS adult patients and 20 age-matched controls. They were instructed to maintain an upright standing position for 30s with open eyes (OEs) focusing on a 6 cm black circle positioned at a distance of 1.5m. Both PWS and EDS patients were characterized by higher RANGEML, RANGEAP and trajectory length of CoP values as compared to CG. No statistically differences were found between PWS and EDS in terms of any of these parameters. The results demonstrated that both PWS and EDS are characterized by a severe postural instability. Muscle hypotonia and weakness may account for reduced balance capacity. Quantitative characterization of instability is important to identify, develop and enhance rehabilitation interventions. PMID:21306869

  20. Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability.

    PubMed

    Dauber, Andrew; Muñoz-Calvo, María T; Barrios, Vicente; Domené, Horacio M; Kloverpris, Soren; Serra-Juhé, Clara; Desikan, Vardhini; Pozo, Jesús; Muzumdar, Radhika; Martos-Moreno, Gabriel Á; Hawkins, Federico; Jasper, Héctor G; Conover, Cheryl A; Frystyk, Jan; Yakar, Shoshana; Hwa, Vivian; Chowen, Julie A; Oxvig, Claus; Rosenfeld, Ron G; Pérez-Jurado, Luis A; Argente, Jesús

    2016-01-01

    Mutations in multiple genes of the growth hormone/IGF-I axis have been identified in syndromes marked by growth failure. However, no pathogenic human mutations have been reported in the six high-affinity IGF-binding proteins (IGFBPs) or their regulators, such as the metalloproteinase pregnancy-associated plasma protein A2 (PAPP-A2) that is hypothesized to increase IGF-I bioactivity by specific proteolytic cleavage of IGFBP-3 and -5. Multiple members of two unrelated families presented with progressive growth failure, moderate microcephaly, thin long bones, mildly decreased bone density and elevated circulating total IGF-I, IGFBP-3, and -5, acid labile subunit, and IGF-II concentrations. Two different homozygous mutations in PAPPA2, p.D643fs25* and p.Ala1033Val, were associated with this novel syndrome of growth failure. In vitro analysis of IGFBP cleavage demonstrated that both mutations cause a complete absence of PAPP-A2 proteolytic activity. Size-exclusion chromatography showed a significant increase in IGF-I bound in its ternary complex. Free IGF-I concentrations were decreased. These patients provide important insights into the regulation of longitudinal growth in humans, documenting the critical role of PAPP-A2 in releasing IGF-I from its BPs. PMID:26902202

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

    PubMed Central

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

    1986-01-01

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

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

    ERIC Educational Resources Information Center

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

    2015-01-01

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

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

    ERIC Educational Resources Information Center

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

    2009-01-01

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

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

    ERIC Educational Resources Information Center

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

    2009-01-01

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

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

    ERIC Educational Resources Information Center

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

    2007-01-01

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

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

    ERIC Educational Resources Information Center

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

    2005-01-01

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

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

    ERIC Educational Resources Information Center

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

    2015-01-01

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

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

    ERIC Educational Resources Information Center

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

    2007-01-01

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

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

    NASA Astrophysics Data System (ADS)

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

    2014-12-01

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

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

    PubMed

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

    2015-12-01

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

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

    ERIC Educational Resources Information Center

    Lynn, Richard

    2010-01-01

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

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

    ERIC Educational Resources Information Center

    Lynn, Richard

    2010-01-01

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

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

    PubMed Central

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

    2014-01-01

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

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

    SciTech Connect

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

    1996-07-12

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

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed

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

    2015-11-15

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

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

    PubMed

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

    2015-03-01

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

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

    PubMed

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

    2015-12-01

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

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

    PubMed

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

    2015-05-01

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

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

    SciTech Connect

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

    1995-09-11

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

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

    PubMed Central

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

    2015-01-01

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

  2. Comparing the Relationship Between Stature and Later Life Health in Six Low and Middle Income Countries

    PubMed Central

    McGovern, Mark E.

    2014-01-01

    This paper examines the relationship between stature and later life health in 6 emerging economies, each of which are expected to experience significant increases in the mean age of their populations over the coming decades. Using data from the WHO Study on Global Ageing and Adult Health (SAGE) and pilot data from the Longitudinal Ageing Study in India (LASI), I show that various measures of health are associated with height, a commonly used proxy for childhood environment. In the pooled sample, an additional 10cm increase in height is associated with between a 2 and 3 percentage point increase in the probability of being in very good or good self-reported health, a 3 percentage point increase in the probability of reporting no difficulties with activities of daily living or instrumental activities of daily living, and between a fifth and a quarter of a standard deviation increase in grip strength and lung function. Adopting a methodology previously used in the research on inequality, I also summarise the height-grip strength gradient for each country using the concentration index, and provide a decomposition analysis. PMID:25590021

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

    PubMed

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

    2011-11-01

    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

  4. Composite Selection Signals for Complex Traits Exemplified Through Bovine Stature Using Multibreed Cohorts of European and African Bos taurus

    PubMed Central

    Randhawa, Imtiaz A. S.; Khatkar, Mehar S.; Thomson, Peter C.; Raadsma, Herman W.

    2015-01-01

    Understanding the evolution and molecular architecture of complex traits is important in domestic animals. Due to phenotypic selection, genomic regions develop unique patterns of genetic diversity called signatures of selection, which are challenging to detect, especially for complex polygenic traits. In this study, we applied the composite selection signals (CSS) method to investigate evidence of positive selection in a complex polygenic trait by examining stature in phenotypically diverse cattle comprising 47 European and 8 African Bos taurus breeds, utilizing a panel of 38,033 SNPs genotyped on 1106 animals. CSS were computed for phenotypic contrasts between multibreed cohorts of cattle by classifying the breeds according to their documented wither height to detect the candidate regions under selection. Using the CSS method, clusters of signatures of selection were detected at 26 regions (9 in European and 17 in African cohorts) on 13 bovine autosomes. Using comparative mapping information on human height, 30 candidate genes mapped at 12 selection regions (on 8 autosomes) could be linked to bovine stature diversity. Of these 12 candidate gene regions, three contained known genes (i.e., NCAPG-LCORL, FBP2-PTCH1, and PLAG1-CHCHD7) related to bovine stature, and nine were not previously described in cattle (five in European and four in African cohorts). Overall, this study demonstrates the utility of CSS coupled with strategies of combining multibreed datasets in the identification and discovery of genomic regions underlying complex traits. Characterization of multiple signatures of selection and their underlying candidate genes will elucidate the polygenic nature of stature across cattle breeds. PMID:25931611

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

    PubMed Central

    Tan, Uner

    2014-01-01

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

  6. 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

    Tan, Uner

    2014-01-01

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

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

    PubMed

    Joshi, Peter K; Esko, Tonu; Mattsson, Hannele; Eklund, Niina; Gandin, Ilaria; Nutile, Teresa; Jackson, Anne U; Schurmann, Claudia; Smith, Albert V; Zhang, Weihua; Okada, Yukinori; Stančáková, Alena; Faul, Jessica D; Zhao, Wei; Bartz, Traci M; Concas, Maria Pina; Franceschini, Nora; Enroth, Stefan; Vitart, Veronique; Trompet, Stella; Guo, Xiuqing; Chasman, Daniel I; O'Connel, Jeffrey R; Corre, Tanguy; Nongmaithem, Suraj S; Chen, Yuning; Mangino, Massimo; Ruggiero, Daniela; Traglia, Michela; Farmaki, Aliki-Eleni; Kacprowski, Tim; Bjonnes, Andrew; van der Spek, Ashley; Wu, Ying; Giri, Anil K; Yanek, Lisa R; Wang, Lihua; Hofer, Edith; Rietveld, Cornelius A; McLeod, Olga; Cornelis, Marilyn C; Pattaro, Cristian; Verweij, Niek; Baumbach, Clemens; Abdellaoui, Abdel; Warren, Helen R; Vuckovic, Dragana; Mei, Hao; Bouchard, Claude; Perry, John R B; Cappellani, Stefania; Mirza, Saira S; Benton, Miles C; Broeckel, Ulrich; Medland, Sarah E; Lind, Penelope A; Malerba, Giovanni; Drong, Alexander; Yengo, Loic; Bielak, Lawrence F; Zhi, Degui; van der Most, Peter J; Shriner, Daniel; Mägi, Reedik; Hemani, Gibran; Karaderi, Tugce; Wang, Zhaoming; Liu, Tian; Demuth, Ilja; Zhao, Jing Hua; Meng, Weihua; Lataniotis, Lazaros; van der Laan, Sander W; Bradfield, Jonathan P; Wood, Andrew R; Bonnefond, Amelie; Ahluwalia, Tarunveer S; Hall, Leanne M; Salvi, Erika; Yazar, Seyhan; Carstensen, Lisbeth; de Haan, Hugoline G; Abney, Mark; Afzal, Uzma; Allison, Matthew A; Amin, Najaf; Asselbergs, Folkert W; Bakker, Stephan J L; Barr, R Graham; Baumeister, Sebastian E; Benjamin, Daniel J; Bergmann, Sven; Boerwinkle, Eric; Bottinger, Erwin P; Campbell, Archie; Chakravarti, Aravinda; Chan, Yingleong; Chanock, Stephen J; Chen, Constance; Chen, Y-D Ida; Collins, Francis S; Connell, John; Correa, Adolfo; Cupples, L Adrienne; Smith, George Davey; Davies, Gail; Dörr, Marcus; Ehret, Georg; Ellis, Stephen B; Feenstra, Bjarke; Feitosa, Mary F; Ford, Ian; Fox, Caroline S; Frayling, Timothy M; Friedrich, Nele; Geller, Frank; Scotland, Generation; Gillham-Nasenya, Irina; Gottesman, Omri; Graff, Misa; Grodstein, Francine; Gu, Charles; Haley, Chris; Hammond, Christopher J; Harris, Sarah E; Harris, Tamara B; Hastie, Nicholas D; Heard-Costa, Nancy L; Heikkilä, Kauko; Hocking, Lynne J; Homuth, Georg; Hottenga, Jouke-Jan; Huang, Jinyan; Huffman, Jennifer E; Hysi, Pirro G; Ikram, M Arfan; Ingelsson, Erik; Joensuu, Anni; Johansson, Åsa; Jousilahti, Pekka; Jukema, J Wouter; Kähönen, Mika; Kamatani, Yoichiro; Kanoni, Stavroula; Kerr, Shona M; Khan, Nazir M; Koellinger, Philipp; Koistinen, Heikki A; Kooner, Manraj K; Kubo, Michiaki; Kuusisto, Johanna; Lahti, Jari; Launer, Lenore J; Lea, Rodney A; Lehne, Benjamin; Lehtimäki, Terho; Liewald, David C M; Lind, Lars; Loh, Marie; Lokki, Marja-Liisa; London, Stephanie J; Loomis, Stephanie J; Loukola, Anu; Lu, Yingchang; Lumley, Thomas; Lundqvist, Annamari; Männistö, Satu; Marques-Vidal, Pedro; Masciullo, Corrado; Matchan, Angela; Mathias, Rasika A; Matsuda, Koichi; Meigs, James B; Meisinger, Christa; Meitinger, Thomas; Menni, Cristina; Mentch, Frank D; Mihailov, Evelin; Milani, Lili; Montasser, May E; Montgomery, Grant W; Morrison, Alanna; Myers, Richard H; Nadukuru, Rajiv; Navarro, Pau; Nelis, Mari; Nieminen, Markku S; Nolte, Ilja M; O'Connor, George T; Ogunniyi, Adesola; Padmanabhan, Sandosh; Palmas, Walter R; Pankow, James S; Patarcic, Inga; Pavani, Francesca; Peyser, Patricia A; Pietilainen, Kirsi; Poulter, Neil; Prokopenko, Inga; Ralhan, Sarju; Redmond, Paul; Rich, Stephen S; Rissanen, Harri; Robino, Antonietta; Rose, Lynda M; Rose, Richard; Sala, Cinzia; Salako, Babatunde; Salomaa, Veikko; Sarin, Antti-Pekka; Saxena, Richa; Schmidt, Helena; Scott, Laura J; Scott, William R; Sennblad, Bengt; Seshadri, Sudha; Sever, Peter; Shrestha, Smeeta; Smith, Blair H; Smith, Jennifer A; Soranzo, Nicole; Sotoodehnia, Nona; Southam, Lorraine; Stanton, Alice V; Stathopoulou, Maria G; Strauch, Konstantin; Strawbridge, Rona J; Suderman, Matthew J; Tandon, Nikhil; Tang, Sian-Tsun; Taylor, Kent D; Tayo, Bamidele O; Töglhofer, Anna Maria; Tomaszewski, Maciej; Tšernikova, Natalia; Tuomilehto, Jaakko; Uitterlinden, Andre G; Vaidya, Dhananjay; van Hylckama Vlieg, Astrid; van Setten, Jessica; Vasankari, Tuula; Vedantam, Sailaja; Vlachopoulou, Efthymia; Vozzi, Diego; Vuoksimaa, Eero; Waldenberger, Melanie; Ware, Erin B; Wentworth-Shields, William; Whitfield, John B; Wild, Sarah; Willemsen, Gonneke; Yajnik, Chittaranjan S; Yao, Jie; Zaza, Gianluigi; Zhu, Xiaofeng; Salem, Rany M; Melbye, Mads; Bisgaard, Hans; Samani, Nilesh J; Cusi, Daniele; Mackey, David A; Cooper, Richard S; Froguel, Philippe; Pasterkamp, Gerard; Grant, Struan F A; Hakonarson, Hakon; Ferrucci, Luigi; Scott, Robert A; Morris, Andrew D; Palmer, Colin N A; Dedoussis, George; Deloukas, Panos; Bertram, Lars; Lindenberger, Ulman; Berndt, Sonja I; Lindgren, Cecilia M; Timpson, Nicholas J; Tönjes, Anke; Munroe, Patricia B; Sørensen, Thorkild I A; Rotimi, Charles N; Arnett, Donna K; Oldehinkel, Albertine J; Kardia, Sharon L R; Balkau, Beverley; Gambaro, Giovanni; Morris, Andrew P; Eriksson, Johan G; Wright, Margie J; Martin, Nicholas G; Hunt, Steven C; Starr, John M; Deary, Ian J; Griffiths, Lyn R; Tiemeier, Henning; Pirastu, Nicola; Kaprio, Jaakko; Wareham, Nicholas J; Pérusse, Louis; Wilson, James G; Girotto, Giorgia; Caulfield, Mark J; Raitakari, Olli; Boomsma, Dorret I; Gieger, Christian; van der Harst, Pim; Hicks, Andrew A; Kraft, Peter; Sinisalo, Juha; Knekt, Paul; Johannesson, Magnus; Magnusson, Patrik K E; Hamsten, Anders; Schmidt, Reinhold; Borecki, Ingrid B; Vartiainen, Erkki; Becker, Diane M; Bharadwaj, Dwaipayan; Mohlke, Karen L; Boehnke, Michael; van Duijn, Cornelia M; Sanghera, Dharambir K; Teumer, Alexander; Zeggini, Eleftheria; Metspalu, Andres; Gasparini, Paolo; Ulivi, Sheila; Ober, Carole; Toniolo, Daniela; Rudan, Igor; Porteous, David J; Ciullo, Marina; Spector, Tim D; Hayward, Caroline; Dupuis, Josée; Loos, Ruth J F; Wright, Alan F; Chandak, Giriraj R; Vollenweider, Peter; Shuldiner, Alan R; Ridker, Paul M; Rotter, Jerome I; Sattar, Naveed; Gyllensten, Ulf; North, Kari E; Pirastu, Mario; Psaty, Bruce M; Weir, David R; Laakso, Markku; Gudnason, Vilmundur; Takahashi, Atsushi; Chambers, John C; Kooner, Jaspal S; Strachan, David P; Campbell, Harry; Hirschhorn, Joel N; Perola, Markus; Polašek, Ozren; Wilson, James F

    2015-07-23

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

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

    PubMed

    Gallagher, Andrew

    2013-12-01

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

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

    PubMed Central

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

    2010-01-01

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

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

    PubMed

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

    2006-12-01

    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

  11. Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalities

    PubMed Central

    Frost, Amy R; Böhm, Sabrina V; Sewduth, Raj N; Josifova, Dragana; Ogilvie, Caroline Mackie; Izatt, Louise; Roberts, Roland G

    2010-01-01

    Dystroglycan is a protein which binds directly to two proteins defective in muscular dystrophies (dystrophin and laminin α2) and whose own aberrant post-translational modification is the common aetiological route of neuromuscular diseases associated with mutations in genes encoding at least six other proteins (POMT1, POMT2, POMGnT1, LARGE, FKTN and FKRP). It is surprising, therefore, that to our knowledge no mutations of the human dystroglycan gene itself have yet been reported. In this study, we describe a patient with a heterozygous de novo deletion of a ∼2-Mb region of chromosome 3, which includes the dystroglycan gene (DAG1). The patient is a 16-year-old female with learning difficulties, white matter abnormalities, elevated serum creatine kinase, oral-motor dyspraxia and facial hypotonia but minimal clinically significant involvement of other muscles. As these symptoms are a subset of those observed in disorders of dystroglycan glycosylation (muscle–eye–brain disease and Warker–Warburg syndrome), we assess the likely contribution to her phenotype of her heterogosity for a null mutation of DAG1. We also show that the transcriptional compensation observed in the Dag1+/− mouse is not observed in the patient. Although we cannot show that haploinsufficiency of DAG1 is the sole cause of this patient's myopathy and white matter changes, this case serves to constrain our ideas of the severity of the phenotypic consequences of heterozygosity for null DAG1 mutations. PMID:20234391

  12. 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

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

    2014-04-01

    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 αII -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

  13. Partial short arm deletion of the X chromosome 46,X,del(X)(qter = to p21:).

    PubMed

    Käosaar, M; Mikelsaar, A V

    1980-02-01

    It is known from the literature that total loss of the short arm causes complete Turner's signs (Hoo, 1975; Therman and Patau, 1974). Partial deletions of the short arm of the X chromosome are in some cases compatible with fertility (Fraccaro et al., 1977; Hoo, 1979), but in other cases they cause a significant ovarial insufficiency with Turner's signs (Giraud et al., 1974) or gonadal dysgenesis (Petrinelli et al, 1978). A common sign for all the patients having the Xp - with the break point in the dark band (p113-p21) seems to be a short stature. The presence of other clinical signs is rather irregular. In this work, a 25-year-old female patient have a Xp deficiency in region p21 (46,X,del(X) (qter = to p21 :)) with short stature, primary amenorrhea, sterility, and clear Turner's is described. PMID:7358395

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

    PubMed

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

    2013-03-01

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

  15. Macrocephaly, facial abnormalities, disproportionate tall stature, and mental retardation--a sib observation.

    PubMed

    Bakker, H D; Hennekam, R C

    1997-06-13

    We report on two brothers with relatively short limbs, macrocephaly, high and narrow forehead, frontal upsweep of hairline, hypotelorism, broad but short ears, straight back, and mild hypermobility of all joints. Both were hypotonic neonatally and had developmental delay and behavior problems. Several of the manifestations were present in the father, too. A literature search failed to uncover any similar case. PMID:9188672

  16. Short philtrum

    MedlinePlus

    Chromosome 18q deletion syndrome Cohen syndrome DiGeorge syndrome Oral-facial-digital syndrome (OFD) ... are present? Tests to diagnose a short philtrum: Chromosome studies Enzyme tests Metabolic studies on both mother ...

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

    PubMed

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

    2008-09-01

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

  18. [A clinical investigation of pediatric patients with sleep-disordered breathing who suffered perioperative respiratory complications of adenotonsillectomy].

    PubMed

    Ogawa, Makoto; Hosokawa, Kiyohito; Inohara, Hidenori

    2014-03-01

    The aim of this study was to investigate the clinical background and identify the risk factors for perioperative respiratory complication in pediatric patients with sleep-disordered breathing (SDB) who underwent adenotonsillectomy (AT). Of the 186 pediatric subjects (male: 131, female: 55) undergoing AT as the first surgical treatment for SDB, 14 patients (male: 9, female: 5) fulfilled the following criteria: 1) disturbed ventilation, 2) cyanosis with an oxygen saturation of less than 90% on pulse oximetry during the perioperative period and 3) the subsequent need for medical intervention, including immediate intubation, continuous positive airway pressure (CPAP) or airway insertion. Among these 14 patients, nine were less than 3 years of age. In addition, 5 and 3 patients had hypotonia due to cerebral paralysis and metabolic disturbances, respectively. Seven had a short stature with an SD of worse than - 1.5. A statistical analysis showed that cases with either an age of less than 3 years, hypotonia or a short stature had a high risk for suffering from respiratory complications, and suggested that low body weight and a high value for preoperative apnea-hypopnea index were additional risk factors. However, a chart review exhibited that, of the 14 cases with respiratory complications, the 8 cases whose age was under 3 years had either of hypotonia or a short stature. In thirteen of the 14 cases, respiratory complications were associated with the process of general anesthesia, and ten patients exhibited pharyngeal collapse. After surgery, 7 and 3 patients required intensive care in the ICU and the pediatric recovery unit, respectively. Based on these results, it is suggested that pediatric SDB cases under 3 years of age and either with hypotonia or a short stature have a high risk for respiratory complications associated with AT, and therefore AT for such patients should only be performed in medical facilities with an ICU or an equivalent department. PMID:24783453

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

    PubMed

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

    2014-12-01

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

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

    PubMed

    Kopczyński, Michał

    2011-03-01

    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

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

    PubMed

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

    2015-01-01

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

  2. Perioperative management of a child with short-chain acyl-CoA dehydrogenase deficiency.

    PubMed

    Turpin, Brian; Tobias, Joseph D

    2005-09-01

    Short-chain acyl-CoA dehydrogenase (SCAD) is a mitochondrial enzyme that catalyzes the dehydrogenation of short chain fatty acids (4 to 6 carbons in length) thereby initiating the cycle of beta-oxidation. This process generates acetyl-CoA, the key substrate for hepatic ketogenesis or ATP production by the Kreb's cycle. A deficiency of SCAD results in the build-up of potentially cytotoxic metabolites including ethylmalonic acid, methylsuccinyl CoA and butyryl-carnitine. The end-organ involvement is heterogeneous, but most commonly includes hypotonia with possible lipid myopathy and developmental delay. Other reported complications include dysmorphic craniofacial features, hypoglycemia, seizures, scoliosis, hypertonia and hyperreflexia, cyclic vomiting and myocardial dysfunction. We present a 23-month-old girl with SCAD deficiency, who required posterior fossa decompression for type 1 Chiari malformation. The potential perioperative implications of SCAD deficiency are reviewed. PMID:16101709

  3. Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX-1 gene.

    PubMed

    Franzese, Adriana; Brunetti-Pierri, Nicola; Spagnuolo, Maria Immacolata; Spadaro, Raffaella; Giugliano, Michela; Mukai, Tokuo; Valerio, Giuliana

    2005-05-15

    Mutations in DAX-1 gene cause congenital adrenal hypoplasia (AHC). We present a male patient affected by X-linked adrenal hypoplasia congenita due to a novel DAX-1 missense mutation. The mutation V287G affects the C-terminal end of the DAX-1 protein which plays an important role in functioning of the receptor. In addition, our patient presented an inappropriate tall stature and renal ectopy, which have not been described in AHC so far. PMID:15800903

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

    PubMed

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

    2015-06-01

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

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

    SciTech Connect

    Grossfield, J.; Cao, S.; Milewicz, D.

    1994-09-01

    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.

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

    PubMed

    Prince, J M

    1995-06-01

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

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

    PubMed

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

    2013-06-01

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

  8. 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 Central

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

    2012-01-01

    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

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

    PubMed Central

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

    2002-01-01

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

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

    SciTech Connect

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

    1989-12-01

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

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

    SciTech Connect

    Die-Smulders, C.E.M. de; Engelen, J.J.M.; Schrander-Stumpel, C.T.R.M.

    1995-11-20

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

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

    PubMed Central

    Bicakci, Zafer

    2015-01-01

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

  13. Growth retardation, general hypotonia, and loss of acquired neuromotor skills in the infants of mothers with cobalamin deficiency and the possible role of succinyl-CoA and glycine in the pathogenesis.

    PubMed

    Bicakci, Zafer

    2015-03-01

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

  14. Shortness-of-Breath

    MedlinePlus

    ... can lead to shortness of breath include anxiety, panic attacks, anemia and even constipation. The experience of shortness ... are used to treat patients with anxiety or panic attacks. Other commonly used drugs include bronchodilators to widen ...

  15. Present status of the use of growth hormone in short children with bone diseases (diseases of the skeleton).

    PubMed

    Kanaka-Gantenbein, C

    2001-01-01

    Skeletal dysplasias are genetic disorders of bone and cartilage development, mainly characterized by disproportionate short stature. Achondroplasia is the commonest and best described form of skeletal dysplasia, leading to a mean final height of 131+/-5.6 cm for males and 124+/-5.9 cm for females. Growth hormone (GH) has been used in different studies in patients with achondroplasia in order to ameliorate their height, and short term results range from rather positive to moderate. However, disproportionate advancement of bone age has been observed that can compromise the positive effect of such treatment. Furthermore, concern exists about the aggravation of body disproportion necessitating a later leg lengthening procedure in order to achieve proportionate adult stature. In hypochondroplasia, GH treatment seems to give better results when administered at puberty. No data on final height yet exist, however, so that more studies with greater numbers of patients need to be performed before a consensus on GH use in achondroplasia and hypochondroplasia can be reached. Other forms of skeletal dysplasias are quite rare, so that no conclusion on GH use in such patients can be drawn. Finally, in osteogenesis imperfecta, GH administration significantly ameliorates bone density but does not clearly seem to affect final height positively. PMID:11220700

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

    PubMed Central

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

    2008-01-01

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

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

    PubMed

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

    2015-08-01

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

  18. Interstitial duplication of chromosome region 1q25.1q25.3: report of a patient with mild cognitive deficits, tall stature and facial dysmorphisms.

    PubMed

    Kehrer, Martin; Liehr, Thomas; Benkert, Tanja; Singer, Sylke; Grasshoff, Ute; Schaeferhoff, Karin; Bonin, Michael; Weichselbaum, Annette; Tzschach, Andreas

    2015-03-01

    Isolated interstitial duplications of chromosome band 1q25 are apparently very rare; no patients with detailed molecular and clinical characterization of duplications restricted to this region have been published to date. We report on a 9-year-old girl with mild cognitive deficits, tall stature, macrocephaly and discrete dysmorphic features in whom a de novo interstitial 7.5 Mb duplication of 1q25.1q25.3 was detected by SNP array analysis (arr[hg19] 1q25.1q25.3(173,925,505-181,381,242)x3 dn). The duplicated region was inversely inserted into chromosome band 1q42.2: 46,XX,der(1)(pter→q42.2::q25.3→q25.1::q42.2→qter). Overexpression of one or several of the 87 genes in the duplicated interval was presumably the major causative factor for the clinical manifestations. Reports of additional patients with overlapping duplications will be needed to establish detailed karyotype-phenotype correlations and to gain a better understanding of the underlying pathomechanisms. PMID:25691419

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

    PubMed Central

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

    2015-01-01

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

  20. Paediatric short case examination.

    PubMed

    Isaacs, David

    2014-11-01

    The short case is a highly artificial scenario, in which the examination candidate is given little or no history and instructed to examine one system or one aspect of a patient and draw conclusions. Despite their artificiality, short cases test clinical skills which senior paediatricians value and consider essential qualities of a competent physician. This article presents some general suggestions on an approach to doing short case examinations. PMID:25376346

  1. Natural short sleeper

    MedlinePlus

    ... 9 hours of sleep each night. Short sleepers sleep less than 75% of what is normal for their age. Natural short sleepers are different from people who chronically do not get enough sleep because of work or family demands, or those ...

  2. Short Bowel Syndrome

    MedlinePlus

    ... our online catalog. ​ Additional Links Crohn's Disease Diarrhea Peptic Ulcer Disease Upper GI Series What I need to ... complications of short bowel syndrome may include malnutrition peptic ulcers—sores on the lining of the stomach or ...

  3. Bring Back Short Division.

    ERIC Educational Resources Information Center

    Thornton, Chich

    1985-01-01

    Some benefits of helping learners think in prime numbers are detailed. Reasons for the decay of this ability are described, with short division presented as one activity which should be reintroduced in schools. (MNS)

  4. [False penile shortness].

    PubMed

    Fontana, D; Rolle, L; Ceruti, C; Datta, G; Ragni, F; Tamagnone, A

    1998-12-01

    The rising interest on male genital aesthetics increased the number of patients complaining of short penis. therefore, the andrologist must be able to perform a correct diagnostic assessment and to make the correct therapeutical choice as well, even if there's no standard yet. The aim of this paper is to discuss some diagnostic troubles about penile shortness and, in particular, to explain the basic surgical strategies suitable for the treatment of "hidden penis". PMID:9882906

  5. Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites.

    PubMed

    Ferrari, Serge L; Deutsch, Samuel; Choudhury, Urmila; Chevalley, Thierry; Bonjour, Jean-Philippe; Dermitzakis, Emmanouil T; Rizzoli, Rene; Antonarakis, Stylianos E

    2004-05-01

    Stature, bone size, and bone mass are interrelated traits with high heritability, but the major genes that govern these phenotypes remain unknown. Independent genomewide quantitative-trait locus studies have suggested a locus for bone-mineral density and stature at chromosome 11q12-13, a region harboring the low-density lipoprotein receptor-related protein 5 (LRP5) gene. Mutations in the LRP5 gene were recently implicated in osteoporosis-pseudoglioma and "high-bone-mass" syndromes. To test whether polymorphisms in the LRP5 gene contribute to bone-mass determination in the general population, we studied a cross-sectional cohort of 889 healthy whites of both sexes. Significant associations were found for a missense substitution in exon 9 (c.2047G-->A) with lumbar spine (LS)-bone-mineral content (BMC) (P=.0032), with bone area (P=.0014), and with stature (P=.0062). The associations were observed mainly in adult men, in whom LRP5 polymorphisms accounted for

  6. Congenital Short QT Syndrome

    PubMed Central

    Crotti, Lia; Taravelli, Erika; Girardengo, Giulia; Schwartz, Peter J

    2010-01-01

    The Short QT Syndrome is a recently described new genetic disorder, characterized by abnormally short QT interval, paroxysmal atrial fibrillation and life threatening ventricular arrhythmias. This autosomal dominant syndrome can afflict infants, children, or young adults; often a remarkable family background of cardiac sudden death is elucidated. At electrophysiological study, short atrial and ventricular refractory periods are found, with atrial fibrillation and polymorphic ventricular tachycardia easily induced by programmed electrical stimulation. Gain of function mutations in three genes encoding K+ channels have been identified, explaining the abbreviated repolarization seen in this condition: KCNH2 for Ikr (SQT1), KCNQ1 for Iks (SQT2) and KCNJ2 for Ik1 (SQT3). The currently suggested therapeutic strategy is an ICD implantation, although many concerns exist for asymptomatic patients, especially in pediatric age. Pharmacological treatment is still under evaluation; quinidine has shown to prolong QT and reduce the inducibility of ventricular arrhythmias, but awaits additional confirmatory clinical data. PMID:20126594

  7. SHORT PULSE STRETCHER

    DOEpatents

    Branum, D.R.; Cummins, W.F.

    1962-12-01

    >A short pulse stretching circuit capable of stretching a short puise to enable it to be displayed on a relatively slow sweeping oscilloscope is described. Moreover, the duration of the pulse is increased by charging a capacitor through a diode and thereafter discharging the capacitor at such time as is desired. In the circuit the trigger pulse alone passes through a delay line, whereas the main signal passes through the diode only, and results in over-all circuit losses which are proportional to the low losses of the diode only. (AEC)

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

    PubMed

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

    2012-01-01

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

  9. Review and hypothesis: syndromes with severe intrauterine growth restriction and very short stature--are they related to the epigenetic mechanism(s) of fetal survival involved in the developmental origins of adult health and disease?

    PubMed

    Hall, Judith G

    2010-02-01

    Diagnosing the specific type of severe intrauterine growth restriction (IUGR) that also has post-birth growth restriction is often difficult. Eight relatively common syndromes are discussed identifying their unique distinguishing features, overlapping features, and those features common to all eight syndromes. Many of these signs take a few years to develop and the lifetime natural history of the disorders has not yet been completely clarified. The theory behind developmental origins of adult health and disease suggests that there are mammalian epigenetic fetal survival mechanisms that downregulate fetal growth, both in order for the fetus to survive until birth and to prepare it for a restricted extra-uterine environment, and that these mechanisms have long lasting effects on the adult health of the individual. Silver-Russell syndrome phenotype has recently been recognized to be related to imprinting/methylation defects. Perhaps all eight syndromes, including those with single gene mutation origin, involve the mammalian mechanism(s) of fetal survival downsizing. Insights into those mechanisms should provide avenues to understanding the natural history, the heterogeneity and possible therapy not only for these eight syndromes, but for the common adult diseases with which IUGR is associated. PMID:20101705

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

    PubMed

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

    2016-01-01

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

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

    PubMed

    Le Goff, Carine; Cormier-Daire, Valérie

    2012-08-15

    The acromelic dysplasia group is characterized by short stature, short hands and feet, stiff joint, and "muscular" build. Four disorders can now be ascribed to this group, namely Weill-Marchesani syndrome (WMS), geleophysic dysplasia (GD), acromicric dysplasia (AD), and Myhre syndrome (MS). Although closely similar, they can be distinguished by subtle clinical features and their pattern inheritance. WMS is characterized by the presence of dislocation of microspherophakia and has autosomal dominant or recessive mode of inheritance. GD is the more severe one, with a progressive cardiac valvular thickening, tracheal stenosis, bronchopulmonary insufficiency, often leading to an early death. AD has an autosomal dominant mode of inheritance, distinct facial and skeleton features (a hoarse voice and internal notch of the femoral head). Finally, MS is sporadic, characterized by prognathism, deafness, developmental delay, thickened calvarium, and large vertebrae with short and large pedicles. We first identified mutations in Fibrillin-1 (FBN1) in the dominant form of WMS and then mutations in A Disintegrin-like And Metalloproteinase domain with ThromboSpondin type 1 repeats 10 (ADAMTS10) in the recessive form of WMS. The function of ADAMTS10 is unknown but these findings support a direct interaction between ADAMTS10 and FBN1. We then identified mutations in ADAMTSL2 in the recessive form of GD and a hotspot of mutations in FBN1 in the dominant form of GD and in AD (exon 41-42, encoding TGFβ 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-β (TGFβ) binding protein 1 as a partner of ADAMTSL2. We found an increased level of active TGFβ in the fibroblast medium from patients with FBN1 or ADAMTSL2 mutations and an enhanced phosphorylated SMAD2 level, allowing us to conclude at an enhanced TGFβ 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 TGFβ target genes supporting impaired TGFβ driven transcriptional control in MS. Our findings support a direct link between the short stature phenotypes and the TGFβ signaling. However, the finding of enhanced TGFβ signaling in Marfan phenotypes supports the existence of yet unknown mechanisms regulating TGFβ action. PMID:22791552

  12. Troubling Practices: Short Responses

    ERIC Educational Resources Information Center

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

    2012-01-01

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

  13. Short wavelength laser

    DOEpatents

    Hagelstein, P.L.

    1984-06-25

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

  14. Troubling Practices: Short Responses

    ERIC Educational Resources Information Center

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

    2012-01-01

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

  15. [The short nose].

    PubMed

    Levet, Y

    2014-12-01

    Short noses are not only depending on the length of the dorsum, but also if there is a saddle deformity, or a too lower situation of the fronto-nasal angle, or an open naso-labial angle or a rim retraction. All the cases are treated, often with the help of cartilage grafts and with a closed approach. PMID:25156433

  16. Short stem shoulder replacement

    PubMed Central

    Bell, Simon N.; Coghlan, Jennifer A.

    2014-01-01

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

  17. Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.

    PubMed

    Mansouri, Maria; Kayserili, Hülya; Elalaoui, Siham Chafai; Nishimura, Gen; Iida, Aritoshi; Lyahyai, Jaber; Miyake, Noriko; Matsumoto, Naomichi; Sefiani, Abdelaziz; Ikegawa, Shiro

    2016-02-01

    Spondylo-meta-epiphyseal dysplasia (SMED), short limb-abnormal calcification type (SMED, SL-AC), is a very rare autosomal recessive disorder with various skeletal changes characterized by premature calcification leading to severe disproportionate short stature. Twenty-two patients have been reported until now, but only five mutations (four missense and one splice-site) in the conserved sequence encoding the tyrosine kinase domain of the DDR2 gene has been identified. We report here a novel DDR2 missense mutation, c.370C > T (p.Arg124Trp) in a Moroccan girl with SMED, SL-AC, identified by whole exome sequencing. Our study has expanded the mutational spectrum of this rare disease and it has shown that exome sequencing is a powerful and cost-effective tool for the diagnosis of clinically heterogeneous disorders such as SMED. © 2015 Wiley Periodicals, Inc. PMID:26463668

  18. Short wavelength laser

    DOEpatents

    Hagelstein, Peter L.

    1986-01-01

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

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

    PubMed Central

    2014-01-01

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

  20. Future short-field aircraft

    NASA Technical Reports Server (NTRS)

    Galloway, T. L.

    1972-01-01

    The application of short takeoff and landing aircraft for improving short-haul air transportation is examined. The contracts with industry to study quiet turbofan short-field aircraft in the short-haul air transportation system are identified. Studies of appropriate propulsion systems are conducted in parallel with the aircraft studies. The objectives of the studies are to: (1) determine economic and social viability of short-haul air transportation, (2) identify critical technology and technology-related problems, (3) define representative aircraft configurations and characteristics to include development and operational costs, and (4) to establish desirable technology advances for improving short-haul transportation systems.

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

    SciTech Connect

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

    1995-04-01

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

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

    PubMed Central

    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

    1995-01-01

    Cleidocranial dysplasia (CCD) is an autosomal dominant generalized bone dysplasia characterized by mild-to-moderate short stature, clavicular aplasia or hypoplasia, supernumerary and ectopic teeth, delayed eruption of secondary teeth, a characteristic craniofacial appearance, and a variety of other skeletal anomalies. We have performed linkage studies in five families with CCD, with 24 affected and 20 unaffected individuals, using microsatellite markers spanning 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. Images Figure 1 PMID:7717404

  3. Scottish Short Stone Rows

    NASA Astrophysics Data System (ADS)

    Ruggles, Clive L. N.

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

  4. Short-period comets

    NASA Technical Reports Server (NTRS)

    Weissman, Paul R.; Campins, Humberto

    1991-01-01

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

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

    PubMed Central

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

    2014-01-01

    Introduction: There is still controversy for priming with sex steroid before growth hormone (GH) testing. Objective: We studied GH response to stimulation in 92 children >9 years with idiopathic short stature (height standard deviation score [HtSDS]-2). They were divided randomly into two groups. Children in Group 1 (n = 50) were primed with premarin in girls and testosterone in boys and those in Group 2 were not primed (n = 42). All children were tested using standard clonidine test and their serum insulin-like growth factor-I concentration (IGF-I). Additionally the growth and GH-IGF-I data of the two groups of children were compared with those for 32 short children (HtSDS <−2) below the age 9 years who were non-primed before GH testing (Group 3). Results: Neither GH peak response to provocation nor IGF-I concentrations differed between the two groups with and without priming. Discussion: Taking a cut-level of 7 ng/ml for normal GH response to clonidine, priming with sex steroids did not significantly increase the percentage of patients with normal GH response (52%) versus nonpriming (47%). IGF-I level did not show any significant difference among the two studied groups >9 years. The peak GH response to clonidine provocation test did not differ before (n = 42) versus after 9 years (n = 32) of age. Conclusions: In this randomized study priming with sex steroids before GH testing did not significantly increase the yield of diagnosing short patients with normal GH secretion. In addition, GH response to provocation did not vary significantly between young (<9 years) and old (>9 years) short children. PMID:25538882

  6. Short-wave Diathermy

    PubMed Central

    1935-01-01

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

  7. [Short-lived disorders].

    PubMed

    Artigas-Pallares, Josep

    2012-02-29

    Over the years, most of the mental disorders that are dealt with in everyday clinical practice have changed not only their names but also their conceptualisation. Furthermore, as some disorders disappear or are forgotten, others come into being. Seen from a historical perspective and unlike many of the diseases included within classical medicine, it can be stated that one of the basic characteristics of mental disorders is their short-lived presence in the scientific literature. In this study we analyse the causes underlying the transitory nature of mental disorders. The disappearance of a disorder or the modification of how it is conceptualised may be linked to several different motives. Sometimes they may be due to an evolution of the construct, as a result of new findings. On other occasions the disorder falls into disuse owing to the weakness of the theoretical construct or the clinical research upholding it. Lastly, because the Diagnostic and Statistical Manual of Mental Disorders and the International Classification of Diseases require updates that incorporate new contributions and correct faults in the current model, they give rise to new denominations and definitions in mental disorders. This article analyses these three situations and offers an illustrative example in each case. PMID:22374762

  8. Skeletal dysplasia, growth hormone treatment and body proportion: comparison with other syndromic and non-syndromic short children.

    PubMed

    Hagenäs, Lars; Hertel, Thomas

    2003-01-01

    Skeletal dysplasias comprise a diverse group of conditions that usually compromise both linear growth and body proportions. It is of theoretical interest to evaluate the effect of GH treatment on linear growth, body proportion and final height in the different skeletal dysplasias. Reported experience of GH treatment in short children with skeletal dysplasia is sparse and often limited to short treatment periods and knowledge of its effects on final height and body proportion is generally lacking. Formal studies are almost all confined to achondroplasia as the most common entity. First-year response is typically a 2-3 cm increase in growth velocity in prepubertal children, or a gain of about 0.5 SDS or less in relative height from a baseline level of -4 to -5 SDS. GH treatment for up to 5 years in achondroplasia can produce a total height gain of about 1 SDS. Apart from achondroplasia, treatment of hypochondroplasia and dyschondrosteosis with GH has been reported in a small number of patients. Long-term data are, however, lacking. Of theoretical interest is that in many syndromic or non-syndromic short-statured children body proportion, i.e. trunk to leg length ratio, does not seem to be dependent on the degree of GH sufficiency and does not seem to be changed by GH treatment. GH treatment, at least in the prepubertal period, does seem to influence degree of disproportion. PMID:14671400

  9. Are Short GRBs Really Hard?

    NASA Astrophysics Data System (ADS)

    Sakamoto, T.; Barbier, L.; Barthelmy, S.; Cummings, J.; Fenimore, E.; Gehrels, N.; Hullinger, D.; Krimm, H.; Markwardt, C.; Palmer, D.; Parsons, A.; Sato, G.; Tueller, J.; Aptekar, R.; Cline, T.; Golenetskii, S.; Mazets, E.; Pal'Shin, V.; Ricker, G.; Lamb, D.; Atteia, J.-L.; Swift-Bat; Konus-Wind; Hete-2 Team

    2006-05-01

    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.

  10. Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.

    PubMed

    van Maldegem, Bianca T; Wanders, Ronald J A; Wijburg, Frits A

    2010-10-01

    Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is an autosomal recessive inborn error of mitochondrial fatty acid oxidation. SCADD is biochemically characterized by increased C4-carnitine in plasma and ethylmalonic acid in urine. The diagnosis of SCADD is confirmed by DNA analysis showing SCAD gene mutations and/or variants. SCAD gene variants are present in homozygous form in approximately 6% of the general population and considered to confer susceptibility to development of clinical disease. Clinically, SCADD generally appears to present early in life and to be most frequently associated with developmental delay, hypotonia, epilepsy, behavioral disorders, and hypoglycemia. However, these symptoms often ameliorate and even disappear spontaneously during follow-up and were found to be unrelated to the SCAD genotype. In addition, in some cases, symptoms initially attributed to SCADD could later be explained by other causes. Finally, SCADD relatives of SCADD patients as well as almost all SCADD individuals diagnosed by neonatal screening remained asymptomatic during follow-up. This potential lack of clinical consequences of SCADD has several implications. First, the diagnosis of SCADD should never preclude extension of the diagnostic workup for other potential causes of the observed symptoms. Second, patients and parents should be clearly informed about the potential lack of relevance of the disorder to avoid unfounded anxiety. Furthermore, to date, SCADD is not an optimal candidate for inclusion in newborn screening programs. More studies are needed to fully establish the relevance of SCADD and solve the question as to whether SCADD is involved in a multifactorial disease or represents a nondisease. PMID:20429031

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

    PubMed

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

    2002-10-01

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

  12. Short Stories in the Classroom.

    ERIC Educational Resources Information Center

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

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

  13. Hemoglobin level is linked to growth hormone-dependent proteins in short children.

    PubMed

    Vihervuori, E; Virtanen, M; Koistinen, H; Koistinen, R; Seppälä, M; Siimes, M A

    1996-03-01

    Erythropoiesis was investigated in 32 children wih short stature and in eight children with skeletal dysplasia by studying blood hemoglobin in relation to growth and to serum concentrations of insulin-like growth factor I (IGF-I), IGF binding protein-3 (IGFBP-3), and erythropoietin (EPO) before, during, and after 12 months of recombinant human growth hormone (GH) treatment. Blood hemoglobin concentration was positively correlated with relative body height and with serum IGF-I and IGFBP-3 levels (P = .001 to .02), but not with the concentrations of EPO. The normal age-dependency of hemoglobin was lacking. Hemoglobin levels and their responses to GH treatment were similar in the patients with GH deficiency and those with normal GH secretion. Treatment with GH accelerated growth and elevated the concentrations of hemoglobin, IGF-I, and IGFBP-3. In the eight patients with skeletal dysplasia, body mass increased similarly, but gain in height was less than in the other patients, and the increase in hemoglobin was markedly pronounced. In this group, the correlations between hemoglobin, IGF-I, and IGFBP-3 were extremely close (r = 0.80 to 0.85, P = .031 to .008). These findings are in accord with earlier observations from in vitro and animal studies, and suggest that the GH-IGF axis is involved in the physiologic elevation of hemoglobin levels during childhood. PMID:8634460

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

    SciTech Connect

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

    1996-05-17

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

  15. Intestinal Failure (Short Bowel Syndrome)

    MedlinePlus

    Intestinal Failure (Short Bowel Syndrome) What is intestinal failure? Intestinal failure occurs when a significant portion of the small intestine is not present or does not function normally. This can occur if a large part of the small ...

  16. Palliative care - shortness of breath

    MedlinePlus

    ... to control shortness of breath: Call your doctor, palliative care team, or hospice nurse for advice Call 911 ... Bicanovsky L. Comfort care: symptom control in the dying. In: Walsh ... . 1st ed. Philadelphia, PA: Elsevier Saunders; 2008:chap 181.

  17. Dechirper wakefields for short bunches

    NASA Astrophysics Data System (ADS)

    Bane, Karl; Stupakov, Gennady

    2016-06-01

    In previous work (Bane and Stupakov, 2015 [1]) general expressions, valid for arbitrary bunch lengths, were derived for the wakefields of corrugated structures with flat geometry, such as is used in the RadiaBeam/LCLS dechirper. However, the bunch at the end of linac-based X-ray FELs-like the LCLS-is extremely short, and for short bunches the wakes can be considerably simplified. In this work, we first derive analytical approximations to the short-range wakes. These are generalized wakes, in the sense that their validity is not limited to a small neighborhood of the symmetry axis, but rather extends to arbitrary transverse offsets of driving and test particles. The validity of these short-bunch wakes holds not only for the corrugated structure, but rather for any flat structure whose beam-cavity interaction can be described by a surface impedance. We use these wakes to obtain, for a short bunch passing through a dechirper: estimates of the energy loss as function of gap, the transverse kick as a function of beam offset, the slice energy spread increase, and the emittance growth. In the Appendix, a more accurate derivation-than that is found in Bane and Stupakov (2015) [1]-of the arbitrary bunch length wakes is performed; we find full agreement with the earlier results, provided the bunches are short compared to the dechirper gap, which is normally the regime of interest.

  18. Short baseline phase delay interferometry

    NASA Technical Reports Server (NTRS)

    Edwards, C. D.

    1987-01-01

    The high precision of the phase delay data type allows angular navigation accuracy on relatively short baselines to compete with the angular accuracy achieved with long baseline group delay measurements. Differential phase delay observations of close quasar pairs on both a 5.9-km baseline (DSS 12-DSS 13) and a 253-km baseline (DSS 13-Owens Valley Radio Observatory) have been performed to study the potential navigational precision and accuracy of the short baseline interferometry. As a first step toward demonstration of a connected element system at Goldstone, the DSS 12-DSS 13 baseline was operated coherently, distributing a common frequency reference via a recently installed fiber optic cable. The observed phase delay residuals of about 10 psec or less on both baselines appear to be dominated by short term troposphere fluctuations, and correspond to navigational accuracies of well below 50 nrad for the 253-km baseline. Additional experiments will be required to probe the full range of systematic errors.

  19. Beware Postpartum Shortness of Breath

    PubMed Central

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

    2015-01-01

    Peripartum cardiomyopathy (PPCM) is one of the potentially life-threatening complications of pregnancy. We report a case of a 36-year-old female patient who presented with shortness of breath, swelling of feet after giving birth to triplets, and her tests revealed that left ventricle is dilated with its diameter on the borderline and she had EF 35% with advanced systolic dysfunction. Anterior wall and septum were severely hypokinetic. In the presence of these findings, the patient was evaluated as PPCM. PPCM must be considered in the differential diagnosis of a patient presenting with shortness of breath and swelling of feet, which are also common in pregnancy. PMID:26649031

  20. [Short-term occupational disability].

    PubMed

    Bebensee, H; Conrad, P; Hein, R

    1994-01-01

    The present political discussion about absenteeism in industry and introduction of days of absence in case of sickness emphasises the amount of short-term sickness cases. More or less openly the misuse of continued salary payment via "unauthorized" working inability is discussed: this is often connected with the increased absenteeism on Mondays and Fridays. From the point of view of the Legal Health Insurances this thesis of misuse is investigated in an analysis of cases of short-term work disability. PMID:8148587

  1. Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes.

    PubMed

    Krakow, D; Salazar, D; Wilcox, W R; Rimoin, D L; Cohn, D H

    2000-08-01

    Ellis-van Creveld syndrome (EVC) is a relatively rare, usually non-lethal, autosomal recessive skeletal dysplasia characterized by short stature, polydactyly, cardiac and renal anomalies. Linkage analysis has localized the disease gene to chromosome 4p16, with the markers at loci D4S827 and D4S3135 defining the centromeric and telomeric limits of the linked interval, respectively. There has been long-term speculation that asphyxiating thoracic dystrophy (ATD) and the short-rib polydactyly syndromes (SRP) represent the severe end of the EVC disease spectrum. We performed linkage analysis using markers from the EVC region in seven families manifesting either ATD or SRP type III. In two of the families, one segregating ATD and one SRP kindred, linkage of the phenotype to the EVC region was excluded. In the other five families linkage of the phenotype to the EVC region could not be excluded, but the families were too small for linkage to the region to be established. The exclusion of the EVC region in ATD and SRP III families suggests that locus heterogeneity exists within the short-rib dysplasia (with and without polydactyly) group of disorders. PMID:10951528

  2. Short-term energy outlook

    SciTech Connect

    Not Available

    1990-11-07

    The Energy Information Administration (EIA) presents future scenarios of quarterly short-term energy supply, demand, and prices for publication in February, May, August, and November in the Short-Term Energy Outlook (Outlook). An annual supplement analyzes previous estimate errors, compares recent scenarios with those of other forecasting services, and discusses current topics of the short-term energy markets. (See Short-Term Energy Outlook: Annual Supplement, DOE/EIA-0202.) The principal users of the Outlook are managers and energy analysts in private industry and government. The scenario period for this issue of the Outlook extends from the fourth quarter of 1990 through the fourth quarter of 1991. Some data for the third quarter of 1990 are preliminary EIA estimates of actual data (for example, some petroleum estimates are based on statistics from the Weekly Petroleum Status Report) or are derived from internal model simulations using the latest exogenous information available (for example, some electricity demand estimates are based on recent weather data). 11 figs., 13 tabs.

  3. Pick of the (Short) Flicks.

    ERIC Educational Resources Information Center

    McLaughlin, Frank, Ed.

    1967-01-01

    Five experts suggest a list of 50 short motion pictures which are inexpensive and fit easily within a normal class period. These films, not narrowly related to specific disciplines, range from visual poems inducing creative responses, to films analyzing the problems of maturing in an irrelevant society. Twenty of the film entries have annotations…

  4. Towards short wavelengths FELs workshop

    SciTech Connect

    Ben-Zvi, I.; Winick, H.

    1993-12-01

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

  5. Novel applications of short and ultra-short pulses

    NASA Astrophysics Data System (ADS)

    Stral, M.; Kopecek, H.; Weinrotter, M.; Bcker, A.; Al-Janabi, A. H.; Wieger, V.; Wintner, E.

    2005-07-01

    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 alternative way for long-lasting operation of gas engines with rather clean exhaust. Ultra-short pulses are useful for materials processing including dental hard tissue. Using miniaturized scanners of different types yields perfect cavity sizes without collateral damage at ablation rates coming close to mechanical drills in dentistry.

  6. Differential Gene Expression Reveals Mitochondrial Dysfunction in an Imprinting Center Deletion Mouse Model of Prader-Willi Syndrome

    PubMed Central

    Fan, Weiwei; Coskun, Pinar E.; Nalbandian, Angle; Knoblach, Susan; Resnick, James L.; Hoffman, Eric; Wallace, Douglas C.; Kimonis, Virginia E.

    2013-01-01

    Prader-Willi syndrome (PWS) is a genetic disorder caused by deficiency of imprinted gene expression from the paternal chromosome 15q11-15q13 and clinically characterized by neonatal hypotonia, short stature, cognitive impairment, hypogonadism, hyperphagia, morbid obesity and diabetes. Previous clinical studies suggest that a defect in energy metabolism may be involved in the pathogenesis of PWS. We focused our attention on the genes associated with energy metabolism and found that there were 95 and 66 mitochondrial genes differentially expressed in PWS muscle and brain, respectively. Assessment of enzyme activities of mitochondrial oxidative phosphorylation (OXPHOS) complexes in the brain, heart, liver and muscle were assessed. We found the enzyme activities of the cardiac mitochondrial complexes II+III were upregulated in the imprinting center deletion (PWS-IC) mice compared to the wild type littermates. These studies suggest that differential gene expression, especially of the mitochondrial genes may contribute to the pathophysiology of PWS. PMID:24127921

  7. Prader-Willi syndrome.

    PubMed Central

    Cassidy, S B

    1997-01-01

    Prader-Willi syndrome is a complex disorder affecting multiple systems with many manifestations relating to hypothalamic insufficiency. Major findings include infantile hypotonia, developmental delay and mental retardation, behaviour disorder, characteristic facial appearance, obesity, hypogonadism, and short stature. Obesity and the behavioural problems are the major causes of morbidity and mortality. Prader-Willi syndrome is caused by abnormalities of the imprinted region of proximal 15q and results from absence of the normally active paternal genes in this region. Such absence results from paternal interstitial deletion, maternal uniparental disomy, or a mutation or other abnormality in the imprinting process. Diagnostic identification of all causes has become available in recent years, permitting early detection and institution of appropriate management. This testing has permitted recent identification of some phenotypic differences among affected subjects of different race and between those with deletions and uniparental disomy as a cause. Images PMID:9391886

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

    PubMed

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

    2010-12-01

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

  9. Prader-Willi syndrome.

    PubMed

    Cassidy, Suzanne B; Driscoll, Daniel J

    2009-01-01

    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 be helpful in diagnosis and important in management. PWS is an example of a genetic condition involving genomic imprinting. It can occur by three main mechanisms, which lead to absence of expression of paternally inherited genes in the 15q11.2-q13 region: paternal microdeletion, maternal uniparental disomy, and imprinting defect. PMID:18781185

  10. Mowat-Wilson syndrome: the first clinical and molecular report of an indonesian patient.

    PubMed

    Mundhofir, Farmaditya E P; Yntema, Helger G; van der Burgt, Ineke; Hamel, Ben C J; Faradz, Sultana M H; van Bon, Bregje W M

    2012-01-01

    Mowat-Wilson syndrome (OMIM 235730) is a genetic condition characterized by moderate-to-severe intellectual disability, a recognizable facial phenotype, and multiple congenital anomalies. The striking facial phenotype in addition to other features such as severely impaired speech, hypotonia, microcephaly, short stature, seizures, corpus callosum agenesis, congenital heart defects, hypospadias, and Hirschsprung disease are particularly important clues for the initial clinical diagnosis. All molecularly confirmed cases with typical MWS have a heterozygous loss-of-function mutation in the zinc finger E-box protein 2 (ZEB2) gene, also called SIP1 (Smad-interacting protein 1) and ZFHX1B, suggesting that haploinsufficiency is the main pathological mechanism. Approximately 80% of mutations are nonsense and frameshift mutations (small insertions or deletions). About half of these mutations are located in exon eight. Here, we report the first Indonesian patient with Mowat-Wilson syndrome confirmed by molecular analysis. PMID:23243526

  11. Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient

    PubMed Central

    Mundhofir, Farmaditya E. P.; Yntema, Helger G.; van der Burgt, Ineke; Hamel, Ben C. J.; Faradz, Sultana M. H.; van Bon, Bregje W. M.

    2012-01-01

    Mowat-Wilson syndrome (OMIM 235730) is a genetic condition characterized by moderate-to-severe intellectual disability, a recognizable facial phenotype, and multiple congenital anomalies. The striking facial phenotype in addition to other features such as severely impaired speech, hypotonia, microcephaly, short stature, seizures, corpus callosum agenesis, congenital heart defects, hypospadias, and Hirschsprung disease are particularly important clues for the initial clinical diagnosis. All molecularly confirmed cases with typical MWS have a heterozygous loss-of-function mutation in the zinc finger E-box protein 2 (ZEB2) gene, also called SIP1 (Smad-interacting protein 1) and ZFHX1B, suggesting that haploinsufficiency is the main pathological mechanism. Approximately 80% of mutations are nonsense and frameshift mutations (small insertions or deletions). About half of these mutations are located in exon eight. Here, we report the first Indonesian patient with Mowat-Wilson syndrome confirmed by molecular analysis. PMID:23243526

  12. Prader–Willi syndrome

    PubMed Central

    Cassidy, Suzanne B; Driscoll, Daniel J

    2009-01-01

    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 be helpful in diagnosis and important in management. PWS is an example of a genetic condition involving genomic imprinting. It can occur by three main mechanisms, which lead to absence of expression of paternally inherited genes in the 15q11.2–q13 region: paternal microdeletion, maternal uniparental disomy, and imprinting defect. PMID:18781185

  13. Sensory motor and functional skills of dizygotic twins: one with Smith-Magenis syndrome and a twin control.

    PubMed

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

    2009-01-01

    Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, speech delays, cognitive deficits, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors. Physical and occupational therapists provide services for children who have the syndrome, whose genetic disorder is frequently not identified or diagnosed before 1 year of age. A comprehensive physical and occupational therapy evaluation was completed in nonidentical twins with one having SMS, using the Sensory Profile; Brief Assessment of Motor Function (BAMF); Peabody Developmental Motor Scales, Second Edition (PDMS-2); and Pediatric Evaluation of Disability Inventory (PEDI). This provides a framework for conducting assessments to enhance early detection and interdisciplinary management with this specialized population. PMID:19842854

  14. The first case of Niikawa-Kuroki syndrome in Kazakhstan associated with café au lait spots.

    PubMed

    Al Mosawi, A J; Fewin, L

    2009-10-01

    Niikawa-Kuroki syndrome (Kabuki syndrome) is a multiple congenital anomaly syndrome of unknown etiology with a very wide spectrum of abnormalities and severity. The aim of this paper was to report the first case of the syndrome in Kazakhstan associated café au lait. Five year and half old boy from Kazakhstan (Uzbek-of Turk ethnicity) presented with dysmorphic facial features (long palpebral fissures, a broad and depressed nasal tip, large prominent earlobes, small head, epicanthic folds short stature, delayed language development, hypotonia, bilateral developmental dysplasia of the hip (DDH), large ears and triangular chin, café au lait spots. The clinical diagnosis was based on the triad of characteristic facial abnormalities (long palpebral fissures, a broad and depressed nasal tip, large prominent earlobes, small head), growth retardation, (DDH). In this paper the authors report the first case of Kabuki syndrome associated with café au lait spots. PMID:19834439

  15. [Diagnosis of Prader-Willi syndrome. Considerations on a case of erroneous diagnosis].

    PubMed

    Scommegna, S; Zollino, M; Paolone, G

    2001-01-01

    Prader-Willi syndrome is a genetic disease, which is clinically characterized by neonatal hypotonia, feeding problems in the first year of life, excessive eating with severe obesity from the second year of life, developmental delay, hypogonadism, typical facial features, short stature, behaviour problems, mental retardation. It is caused by a genomic imprinting disorder, i.e., lacking expression of paternally derived genes located on the long arm of chromosome 15. We present a case of a child with a neonatal diagnosis of Prader-Willi syndrome, founded on some facial dysmorphic features and a partial deletion of 15q, which we belied thanks to an anamnestic and clinical revaluation, and a metilation test. We also present main topics about Prader-Willi syndrome diagnosis, including clinical and endocrinological features, scoring system, and genetics. PMID:11723857

  16. Anticipatory guidance for parents of Prader-Willi children.

    PubMed

    Nolan, Mary Ellen

    2003-01-01

    Prader-Willi syndrome (PWS) is a complex genetic disorder. It is characterized by hypotonia, short stature, hypogonadism, mental retardation, behavioral problems, and hyperphagia, which result in excessive obesity (Lindgren et al., 2000). The abnormal body composition resembles children seen with growth hormone deficiency (Carrel & Allen, 2001) . The dysmorphic features characteristic of PWS include a narrow forehead, a broad nasal bridge, slightly up slanting almond-shaped palpebral fissures, a down turned mouth with a thin upper lip, and narrow hands and feet (Martin et al., 1998). Management of children with PWS requires an ongoing multidisciplinary approach. The delivery of care includes assistance from geneticists, nutritionists, internists, endocrinologists, physical therapists, and psychologists to meet the medical, developmental, behavioral, and social needs. The focus of the nurse practitioner should include assisting the family in the management of these complex patients throughout their childhood. PMID:14743837

  17. Differential gene expression reveals mitochondrial dysfunction in an imprinting center deletion mouse model of Prader-Willi syndrome.

    PubMed

    Yazdi, Puya G; Su, Hailing; Ghimbovschi, Svetlana; Fan, Weiwei; Coskun, Pinar E; Nalbandian, Angèle; Knoblach, Susan; Resnick, James L; Hoffman, Eric; Wallace, Douglas C; Kimonis, Virginia E

    2013-10-01

    Prader-Willi syndrome (PWS) is a genetic disorder caused by deficiency of imprinted gene expression from the paternal chromosome 15q11-15q13 and clinically characterized by neonatal hypotonia, short stature, cognitive impairment, hypogonadism, hyperphagia, morbid obesity, and diabetes. Previous clinical studies suggest that a defect in energy metabolism may be involved in the pathogenesis of PWS. We focused our attention on the genes associated with energy metabolism and found that there were 95 and 66 mitochondrial genes differentially expressed in PWS muscle and brain, respectively. Assessment of enzyme activities of mitochondrial oxidative phosphorylation complexes in the brain, heart, liver, and muscle were assessed. We found the enzyme activities of the cardiac mitochondrial complexes II+‫III were up-regulated in the PWS imprinting center deletion mice compared to the wild-type littermates. These studies suggest that differential gene expression, especially of the mitochondrial genes may contribute to the pathophysiology of PWS. PMID:24127921

  18. Optimal Short-Sighted Rules

    PubMed Central

    Bourgeois-Gironde, Sacha

    2012-01-01

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

  19. Optimal short-sighted rules.

    PubMed

    Bourgeois-Gironde, Sacha

    2012-01-01

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

  20. Review of short wavelength lasers

    SciTech Connect

    Hagelstein, P.L.

    1985-03-18

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

  1. Short-range communication system

    NASA Technical Reports Server (NTRS)

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

    2012-01-01

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

  2. Orogeny can be very short

    PubMed Central

    Dewey, John F.

    2005-01-01

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

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

    SciTech Connect

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

    1994-08-01

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

  4. Short intense submillimeter pulse generation

    NASA Astrophysics Data System (ADS)

    Detemple, T. A.

    1980-07-01

    The use of a mode-locked CO2 laser for an optically pumped near millimeter wave source has been refined and extended to the generation of pulses from C(13)H3F at 1.22mm. More refined theoretical estimates illustrate the transient nature of the conversion process in both space and time and set approximate limits on the ultimate pulse duration to be about one-half that of the pump. The implications are that one is not limited by the intrinsic linewidth in producting short pulse and that significant conversion may occur in modest distances, of order meters, suggesting quasi-compact sources for further experiments.

  5. Ultra-short pulse generator

    DOEpatents

    McEwan, T.E.

    1993-12-28

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

  6. Recycler short kicker beam impedance

    SciTech Connect

    Crisp, Jim; Fellenz, Brian; /Fermilab

    2009-07-01

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

  7. Ultra-short pulse generator

    DOEpatents

    McEwan, Thomas E.

    1993-01-01

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

  8. Short rotation Wood Crops Program

    SciTech Connect

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

    1990-08-01

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

  9. Shapeable short circuit resistant capacitor

    SciTech Connect

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

    2015-10-06

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

  10. Short-Lived Climate Pollution

    NASA Astrophysics Data System (ADS)

    Pierrehumbert, R. T.

    2014-05-01

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

  11. Approaches to Teaching the Short Story.

    ERIC Educational Resources Information Center

    Matthews, Dorothy, Ed.

    1983-01-01

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

  12. Approaches to Teaching the Short Story.

    ERIC Educational Resources Information Center

    Matthews, Dorothy, Ed.

    1983-01-01

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

  13. Arctic warming: Short-term solutions

    NASA Astrophysics Data System (ADS)

    Schmale, Julia

    2016-03-01

    Arctic temperatures are increasing because of long- and short-lived climate forcers, with reduction of the short-lived species potentially offering some quick mitigation. Now a regional assessment reveals the emission locations of these short-lived species and indicates international co-operation is needed to develop an effective mitigation plan.

  14. Effects of Growth Hormone in Chronically Ill Children

    ClinicalTrials.gov

    2006-02-01

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

  15. Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases.

    PubMed

    Ioannides, Yiannis; Lokulo-Sodipe, Kemi; Mackay, Deborah J G; Davies, Justin H; Temple, I Karen

    2014-08-01

    Chromosome 14 harbours an imprinted locus at 14q32. Maternal uniparental disomy of chromosome 14, paternal deletions and loss of methylation at the intergenic differentially methylated region (IG-DMR) result in a human phenotype of low birth weight, hypotonia, early puberty and markedly short adult stature. The analysis of the world literature of 51 cases identifies the key features that will enhance diagnosis and potentially improve treatment. We found a median birth weight SD score (SDS) of -1.88 and median adult final height of -2.04 SDS. Hypotonia and motor delay were reported in 93% and 83% of cases, respectively. Early puberty was reported in 86% of cases with the mean age of menarche at 10 years and 2 months of age. Small hands and feet were reported frequently (87% and 96%, respectively). Premature birth was common (30%) and feeding difficulties frequently reported (n = 22). There was evidence of mildly reduced intellectual ability (measured IQ 75-95). Obesity was reported in 49% of cases, and three patients developed type 2 diabetes mellitus. Two patients were reported to have recurrent hypoglycaemia, and one of these patients was subsequently demonstrated to be growth hormone deficient and started replacement therapy. We propose the use of the name 'Temple syndrome' for this condition and suggest that improved diagnosis and long-term monitoring, especially of growth and cardiovascular risk factors, is required. PMID:24891339

  16. Drop short control of electrode gap

    DOEpatents

    Fisher, Robert W.; Maroone, James P.; Tipping, Donald W.; Zanner, Frank J.

    1986-01-01

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

  17. Inertial Rise in Short Capillaries

    NASA Astrophysics Data System (ADS)

    Shardt, Orest; Waghmare, Prashant; Mitra, Sushanta; Derksen, Jos

    2013-11-01

    We investigate the primarily inertial rise of liquid in vertical glass capillaries that are shorter than the equilibrium rise height (Jurin height). We focus on the behavior of the liquid upon reaching the top of the capillary and use high-speed imaging to observe the motion of the liquid-air interface with high spatial and temporal resolution. We examine the dependence of the interface behavior on the meniscus speed and capillary height and describe a new phenomenon. Upon reaching the upper edge of a sufficiently short capillary, the meniscus inverts, rises upward, and bulges out radially. The bulging liquid then wets the external surface of the capillary and slides down. The meniscus inside the capillary retracts, falling below the upper edge, and then oscillates vertically with decaying amplitude, inverting several times before reaching a steady shape. A theoretical analysis is used to interpret the conditions required for this phenomenon to occur. A key assumption in the analysis is that the transient flow is inertial and therefore the capillary driving force is balanced by the weight and inertia of the rising liquid column while viscous forces are comparatively small. The analysis points to the possibility of obtaining previously-unseen behavior under reduced gravity.

  18. Short paths in expander graphs

    SciTech Connect

    Kleinberg, J.; Rubinfeld, R.

    1996-12-31

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

  19. Onboard Short Term Plan Viewer

    NASA Technical Reports Server (NTRS)

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

    2011-01-01

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

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

    PubMed

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

    2014-10-01

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

  1. 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.

  2. Short-term intercultural psychotherapy: ethnographic inquiry.

    PubMed

    Seeley, Karen M

    2004-01-01

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

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

    PubMed

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

    2013-08-01

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

  4. The Short Story as HyperStory.

    ERIC Educational Resources Information Center

    May, Charles E.

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

  5. Short Form of the Developmental Behaviour Checklist

    ERIC Educational Resources Information Center

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

    2007-01-01

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

  6. 18 CFR 415.1 - Short title.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

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

  7. Natural language insensitive short textual string compression

    NASA Astrophysics Data System (ADS)

    Constantinescu, Cornel; Trelewicz, Jennifer Q.; Arps, Ronald B.

    2004-01-01

    There are applications (such as Internet search engines) where short textual strings, for example abstracts or pieces of Web pages, need to be compressed independently of each other. The usual adaptive compression algorithms perform poorly on these short strings due to the lack of necessary data to learn. In this manuscript, we introduce a compression algorithm targeting short text strings; e.g., containing a few hundred symbols. We also target natural language insensitivity, to facilitate its robust compression and fast implementation. The algorithm is based on the following findings. Applying the move-to-front transform (MTFT) after the Burrows-Wheeler transform (BWT) brings the short textual strings to a "normalized form" where the distribution of the resulting "ranks" has a shape similar over the set of natural language strings. This facilitates the use of a static coding method with few variations, which we call shortBWT, where no on-line learning is needed, to encode the ranks. Finally, for short strings, shortBWT runs very fast because the strings fit into the cache of most current computers. The introduction for this paper will review the mathematical bases of BWT and MTF, it will also review our recently published metric for rapidly pre-characterizing the compressibility of such short textual strings when using these transforms.

  8. High current short pulse ion sources

    SciTech Connect

    Leung, K.N.

    1996-08-01

    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.

  9. Precursors of Short Gamma-Ray Bursts

    NASA Technical Reports Server (NTRS)

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

    2010-01-01

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

  10. A Reverse-Genetics Mutational Analysis of the Barley HvDWARF Gene Results in Identification of a Series of Alleles and Mutants with Short Stature of Various Degree and Disturbance in BR Biosynthesis Allowing a New Insight into the Process

    PubMed Central

    Gruszka, Damian; Gorniak, Malgorzata; Glodowska, Ewelina; Wierus, Ewa; Oklestkova, Jana; Janeczko, Anna; Maluszynski, Miroslaw; Szarejko, Iwona

    2016-01-01

    Brassinosteroids (BRs) are plant steroid hormones, regulating a broad range of physiological processes. The largest amount of data related with BR biosynthesis has been gathered in Arabidopsis thaliana, however understanding of this process is far less elucidated in monocot crops. Up to now, only four barley genes implicated in BR biosynthesis have been identified. Two of them, HvDWARF and HvBRD, encode BR-6-oxidases catalyzing biosynthesis of castasterone, but their relation is not yet understood. In the present study, the identification of the HvDWARF genomic sequence, its mutational and functional analysis and characterization of new mutants are reported. Various types of mutations located in different positions within functional domains were identified and characterized. Analysis of their impact on phenotype of the mutants was performed. The identified homozygous mutants show reduced height of various degree and disrupted skotomorphogenesis. Mutational analysis of the HvDWARF gene with the “reverse genetics” approach allowed for its detailed functional analysis at the level of protein functional domains. The HvDWARF gene function and mutants’ phenotypes were also validated by measurement of endogenous BR concentration. These results allowed a new insight into the BR biosynthesis in barley. PMID:27110778

  11. A Reverse-Genetics Mutational Analysis of the Barley HvDWARF Gene Results in Identification of a Series of Alleles and Mutants with Short Stature of Various Degree and Disturbance in BR Biosynthesis Allowing a New Insight into the Process.

    PubMed

    Gruszka, Damian; Gorniak, Malgorzata; Glodowska, Ewelina; Wierus, Ewa; Oklestkova, Jana; Janeczko, Anna; Maluszynski, Miroslaw; Szarejko, Iwona

    2016-01-01

    Brassinosteroids (BRs) are plant steroid hormones, regulating a broad range of physiological processes. The largest amount of data related with BR biosynthesis has been gathered in Arabidopsis thaliana, however understanding of this process is far less elucidated in monocot crops. Up to now, only four barley genes implicated in BR biosynthesis have been identified. Two of them, HvDWARF and HvBRD, encode BR-6-oxidases catalyzing biosynthesis of castasterone, but their relation is not yet understood. In the present study, the identification of the HvDWARF genomic sequence, its mutational and functional analysis and characterization of new mutants are reported. Various types of mutations located in different positions within functional domains were identified and characterized. Analysis of their impact on phenotype of the mutants was performed. The identified homozygous mutants show reduced height of various degree and disrupted skotomorphogenesis. Mutational analysis of the HvDWARF gene with the "reverse genetics" approach allowed for its detailed functional analysis at the level of protein functional domains. The HvDWARF gene function and mutants' phenotypes were also validated by measurement of endogenous BR concentration. These results allowed a new insight into the BR biosynthesis in barley. PMID:27110778

  12. Short winters threaten temperate fish populations

    PubMed Central

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

    2015-01-01

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

  13. A Short Introduction to this Volume

    NASA Astrophysics Data System (ADS)

    Baracca, Angelo; Renn, Jürgen; Wendt, Helge

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

  14. Genetics Home Reference: short QT syndrome

    MedlinePlus

    ... membrane of cardiac muscle cells. This change in ion transport alters the electrical activity of the heart and ... Wolpert C, Schimpf R, Riccardi R, Grossi S, Richiardi E, Borggrefe M. Short QT Syndrome: a familial cause ...

  15. Short winters threaten temperate fish populations

    NASA Astrophysics Data System (ADS)

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

    2015-07-01

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

  16. Short read fragment assembly of bacterial genomes

    PubMed Central

    Chaisson, Mark J.; Pevzner, Pavel A.

    2008-01-01

    In the last year, high-throughput sequencing technologies have progressed from proof-of-concept to production quality. While these methods produce high-quality reads, they have yet to produce reads comparable in length to Sanger-based sequencing. Current fragment assembly algorithms have been implemented and optimized for mate-paired Sanger-based reads, and thus do not perform well on short reads produced by short read technologies. We present a new Eulerian assembler that generates nearly optimal short read assemblies of bacterial genomes and describe an approach to assemble reads in the case of the popular hybrid protocol when short and long Sanger-based reads are combined. PMID:18083777

  17. Short winters threaten temperate fish populations.

    PubMed

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

    2015-01-01

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

  18. A Short Foucault Pendulum for Corridor Display.

    ERIC Educational Resources Information Center

    Leonard, Byron E.

    1981-01-01

    Describes the construction and operation of a short Foucault pendulum, which indicates earth's rotation with less than 2 percent error. The pendulum is suitable for display either in a classroom or hallway. (SK)

  19. Are shorted pipeline casings a problem

    SciTech Connect

    Gibson, W.F. )

    1994-11-01

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

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

    PubMed

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

    2016-01-01

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

  1. Means for limiting and ameliorating electrode shorting

    SciTech Connect

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

    1999-11-09

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

  2. Means for limiting and ameliorating electrode shorting

    DOEpatents

    Van Konynenburg, Richard A.; Farmer, Joseph C.

    1999-01-01

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

  3. Short fatigue cracks in notched aluminum specimens

    NASA Technical Reports Server (NTRS)

    Lee, J. J.; Sharpe, W. N., Jr.

    1986-01-01

    The short-crack fatigue behavior in notched specimens of Al 2024-T3 was studied at values of the stress ratio, R, equal to 0.5, 0.0, -1.0, and -2.0. Crack growth was monitored using a replica technique for cracks ranging in length from a few tens of a micron to the specimen's thickness (2.3 mm). Crack opening displacement was measured for surface cracks as short as 0.035 mm using the interferometric strain/displacement gage, a laser-based optical technique described by Sharpe (1982). It was found that the growth rates of short cracks were faster than the rates of long cracks for R values of -1.0 and -2.0. No significant difference was observed for R = 0.0, and at R = 0.5, the short cracks actually grew more slowly that the long ones. At all R values, the closure stresses measured for short cracks were smaller than those predicted for large cracks.

  4. Correlation dynamics after short-pulse photoassociation

    SciTech Connect

    Koch, Christiane P.; Kosloff, Ronnie

    2010-06-15

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

  5. Short Gamma-Ray Bursts Are Different

    NASA Astrophysics Data System (ADS)

    Norris, J. P.; Scargle, J. D.; Bonnell, J. T.

    We analyze BATSE time-tagged event (TTE) data for short gamma-ray bursts (T 90 duration < 2.6 s), studying spectral lag vs. peak flux and duration, as well as the number of distinct pulse structures per burst. Performing the cross-correlation between two energy bands, we measure an average lag 20-40 x shorter than for long bursts, and a lag distribution close to symmetric about zero - unlike long bursts. Using a "Bayesian Block" method to identify significantly distinct pulse peaks, we find an order of magnitude fewer pulses than found in studies of long bursts. The disparity in lag magnitude is discontinuous across the 2-s valley between long and short bursts. Thus, short bursts do not appear to be representable as a continuation of long bursts' temporalc haracteristics.

  6. RF synchronized short pulse laser ion source

    NASA Astrophysics Data System (ADS)

    Fuwa, Yasuhiro; Iwashita, Yoshihisa; Tongu, Hiromu; Inoue, Shunsuke; Hashida, Masaki; Sakabe, Shuji; Okamura, Masahiro; Yamazaki, Atsushi

    2016-02-01

    A laser ion source that produces shortly bunched ion beam is proposed. In this ion source, ions are extracted immediately after the generation of laser plasma by an ultra-short pulse laser before its diffusion. The ions can be injected into radio frequency (RF) accelerating bucket of a subsequent accelerator. As a proof-of-principle experiment of the ion source, a RF resonator is prepared and H2 gas was ionized by a short pulse laser in the RF electric field in the resonator. As a result, bunched ions with 1.2 mA peak current and 5 ns pulse length were observed at the exit of RF resonator by a probe.

  7. The origin of short-period comets

    SciTech Connect

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

    1990-07-01

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

  8. Closure measurements on short fatigue cracks

    NASA Technical Reports Server (NTRS)

    Lee, J. J.; Sharpe, W. N., Jr.

    1985-01-01

    Single-edged notched specimens, 2.3 mm thick, of 2024-T3 aluminum were cyclicly loaded at R-ratios of 0.5, 0.0, -1.0 and -2.0. The notch roots were periodically inspected with an optical microscope to locate the initiation of very short cracks. Acetate replicas were also taken. The loads were selected to produce fatigue lives of 500,000 cycles or less. Crack opening displacements were measured at single positions across cracks as short as 0.035 mm and as long as the full thickness of the specimen. The opening load ratios for the short cracks are somewhat smaller than for long cracks at positive R-ratios, but are considerably smaller for negative R-ratios.

  9. Closure measurements on short fatigue cracks

    NASA Technical Reports Server (NTRS)

    Lee, Joo-Jin; Sharpe, William N., Jr.

    1988-01-01

    Single-edged notched specimens, 2.3 mm thick, of 2024-T3 aluminum were cyclically loaded at R-ratios of 0.5, 0.0, -1.0, and -2.0. The notch roots were periodically inspected with an optical microscope to locate the initiation of very short cracks. Acetate replicas were also taken. The loads were selected to produce fatigue lives of 500,000 cycles or less. Crack opening displacements were measured at single positions across cracks as short as 0.035 mm and as long as the full thickness of the specimen. The opening load ratios for the short cracks are somewhat smaller than for long cracks at positive R-ratios, but are considerably smaller for negative R-ratios.

  10. Short Gamma-Ray Bursts Are Different

    NASA Astrophysics Data System (ADS)

    Norris, J. P.; Scargle, J. D.; Bonnell, J. T.

    2000-10-01

    We analyze the BATSE time-tagged event (TTE) data for short gamma-ray bursts (durations less than 2 s). We study spectral lag vs. peak flux and hardness ratio, finding an average lag timescale approximately 20 times shorter than that for long bursts. We also use an optimal ``Bayesian block" approach, based on a 1-D Voronoi tesselation method, to identify significantly distinct pulse peaks. Comparison with previous results for long bursts indicates that short bursts clearly have shorter fundamental timescales, and thus are not explicable as an extension of the pulse paradigm for long bursts by mere reduction in the number of pulses.

  11. Life prediction of short fiber composites

    NASA Astrophysics Data System (ADS)

    Zago, Alessandro

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

  12. Theoretical models of synaptic short term plasticity

    PubMed Central

    Hennig, Matthias H.

    2013-01-01

    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. PMID:23626536

  13. Catalysts for synthesizing various short chain hydrocarbons

    DOEpatents

    Colmenares, Carlos

    1991-01-01

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

  14. Rotating black holes can have short bristles

    NASA Astrophysics Data System (ADS)

    Hod, Shahar

    2014-12-01

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

  15. Heating Augmentation for Short Hypersonic Protuberances

    NASA Technical Reports Server (NTRS)

    Mazaheri, Alireza R.; Wood, William A.

    2008-01-01

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

  16. Heating Augmentation for Short Hypersonic Protuberances

    NASA Technical Reports Server (NTRS)

    Mazaheri, Ali R.; Wood, William A.

    2008-01-01

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

  17. Short-Range Structure of Nuclei

    SciTech Connect

    Higinbotham, Douglas W.

    2008-10-13

    The nucleons in a nucleus can form short-range correlated pairs. A recent Jefferson Lab electron scattering experiment, where a proton was knocked-out of the nucleus with high momentum transfer and high missing momentum, has shown that in {sup 12}C the neutron-proton pairs are nearly twenty times as prevalent as proton-proton pairs and, by inference, neutron-neutron pairs. This difference between the types of pairs has been shown to be due to the short-range tensor part of the nucleon-nucleon interaction.

  18. Short-Term Study Abroad, 2001: IIE's Complete Guide to Summer and Short-Term Study.

    ERIC Educational Resources Information Center

    O'Sullivan, Marie, Ed.

    This guide, formerly called "Vacation Study Abroad," lists short-term educational programs of varying lengths from 1 week to several months. Offerings are for the winter and spring breaks, the summer, and other short-term intervals. Some 60% of these programs are sponsored by U.S. accredited colleges and universities. The guide also offers

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

    ERIC Educational Resources Information Center

    Sundquist, John

    2010-01-01

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

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

    ERIC Educational Resources Information Center

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

    2012-01-01

    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…

  1. Development and assessment of short and very short forms of the infant behavior questionnaire-revised.

    PubMed

    Putnam, Samuel P; Helbig, Amy L; Gartstein, Maria A; Rothbart, Mary K; Leerkes, Esther

    2014-01-01

    Using data from parents of 761 infants from 6 independent samples, short (91 items, 14 scales) and very short (37 items, 3 broad scales) forms of the Infant Behavior Questionnaire-Revised (IBQ-R), a well-established caregiver report measure of temperament for infants aged 3 to 12 months, were developed. The forms were subsequently evaluated with data from 1,619 participants from 11 samples. Over 90% of Cronbach's alphas and part-whole correlations calculated for the short and very short form scales were greater than.70. Interparent agreement was nearly identical to that obtained with standard IBQ-R scales, averaging.41 and ranging from.06 to.76. Longitudinal stability over multiple time spans, and estimated retest reliability of the short form scales, were highly similar to those of standard forms, with estimated retest reliability averaging.72 and ranging from.54 to.93. Convergent and predictive validity of select short form scales were comparable to, but slightly lower, than those observed for standard IBQ-R scales. Recommendations for the use of the standard, short, and very short scales are discussed. PMID:24206185

  2. Facts on Aging: A Short Quiz

    ERIC Educational Resources Information Center

    Palmore, Erdman

    1977-01-01

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

  3. Electricity and short wavelength radiation generator

    DOEpatents

    George, E.V.

    1985-08-26

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

  4. 46 CFR 15.725 - Sailing short.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... 46 Shipping 1 2012-10-01 2012-10-01 false Sailing short. 15.725 Section 15.725 Shipping COAST GUARD, DEPARTMENT OF HOMELAND SECURITY MERCHANT MARINE OFFICERS AND SEAMEN MANNING REQUIREMENTS... personnel to man the vessel, the master or person in charge may proceed on the voyage, having determined...

  5. 46 CFR 15.725 - Sailing short.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 46 Shipping 1 2011-10-01 2011-10-01 false Sailing short. 15.725 Section 15.725 Shipping COAST GUARD, DEPARTMENT OF HOMELAND SECURITY MERCHANT MARINE OFFICERS AND SEAMEN MANNING REQUIREMENTS... personnel to man the vessel, the master or person in charge may proceed on the voyage, having determined...

  6. 46 CFR 15.725 - Sailing short.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... 46 Shipping 1 2014-10-01 2014-10-01 false Sailing short. 15.725 Section 15.725 Shipping COAST GUARD, DEPARTMENT OF HOMELAND SECURITY MERCHANT MARINE OFFICERS AND SEAMEN MANNING REQUIREMENTS... personnel to man the vessel, the master or person in charge may proceed on the voyage, having determined...

  7. 46 CFR 15.725 - Sailing short.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... 46 Shipping 1 2013-10-01 2013-10-01 false Sailing short. 15.725 Section 15.725 Shipping COAST GUARD, DEPARTMENT OF HOMELAND SECURITY MERCHANT MARINE OFFICERS AND SEAMEN MANNING REQUIREMENTS... personnel to man the vessel, the master or person in charge may proceed on the voyage, having determined...

  8. 46 CFR 15.725 - Sailing short.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 46 Shipping 1 2010-10-01 2010-10-01 false Sailing short. 15.725 Section 15.725 Shipping COAST GUARD, DEPARTMENT OF HOMELAND SECURITY MERCHANT MARINE OFFICERS AND SEAMEN MANNING REQUIREMENTS... personnel to man the vessel, the master or person in charge may proceed on the voyage, having determined...

  9. Nonperturbative short-range dynamics in TMDs

    SciTech Connect

    Weiss, Christian

    2013-05-01

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

  10. Shortness of Breath in Infants and Children

    MedlinePlus

    ... but if symptoms become worse, always call your child's doctor right away or go to the emergency room. This ... of shortness of breath in children. Take your child to your doctor right away. SYMPTOMS DIAGNOSIS SELF-CARE Begin Here 1. ...

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

    ERIC Educational Resources Information Center

    Iszkowski, Marie-Charlotte

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

  12. Textbook Error: Short Circuiting on Electrochemical Cell

    ERIC Educational Resources Information Center

    Bonicamp, Judith M.; Clark, Roy W.

    2007-01-01

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

  13. A Short History of Three Chemical Shifts

    ERIC Educational Resources Information Center

    Nagaoka, Shin-ichi

    2007-01-01

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

  14. Obesity and short sleep: unlikely bedfellows?

    PubMed

    Horne, J

    2011-05-01

    The link between habitual short sleep and obesity is critically examined from a sleep perspective. Sleep estimates are confounded by 'time in bed', naps; the normal distribution of sleep duration. Wide categorizations of 'short sleep', with claims that <7 h sleep is associated with obesity and morbidity, stem from generalizations from 5 h sleepers (<8% of adults) and acute restriction studies involving unendurable sleepiness. Statistically significant epidemiological findings are of questionable clinical concern, even for 5 h sleepers, as any weight gains accumulate slowly over years; easily redressed by e.g. short exercise exposures, contrasting with huge accumulations of 'lost' sleep. Little evidence supports 'more sleep', alone, as an effective treatment for obesity. Impaired sleep quality and quantity are surrogates for many physical and psychological disorders, as can be obesity. Advocating more sleep, in these respects, could invoke unwarranted use of sleep aids including hypnotics. Inadequate sleep in obese children is usually symptomatic of problems not overcome by increasing sleep alone. Interestingly, neuropeptides regulating interactions between sleep, locomotion and energy balance in normal weight individuals, are an avenue for investigation in some obese short sleepers. The real danger of inadequate sleep lies with excessive daytime sleepiness, not obesity. PMID:21366837

  15. Textbook Error: Short Circuiting on Electrochemical Cell

    ERIC Educational Resources Information Center

    Bonicamp, Judith M.; Clark, Roy W.

    2007-01-01

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

  16. Blacks in Pop Music: A Short Story.

    ERIC Educational Resources Information Center

    Rickelman, Melinda

    1991-01-01

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

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

    ERIC Educational Resources Information Center

    Iszkowski, Marie-Charlotte

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

  18. Reading Abilities and Strategies: A Short Introduction

    ERIC Educational Resources Information Center

    Liu, Feng

    2010-01-01

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

  19. Improving Reproductive Performance: Long and Short Term

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  20. A Short History of Three Chemical Shifts

    ERIC Educational Resources Information Center

    Nagaoka, Shin-ichi

    2007-01-01

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

  1. Spanish: Familiarization and Short-Term Training.

    ERIC Educational Resources Information Center

    Arbelaez, Vicente; And Others

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

  2. Short-Term Play Therapy for Children.

    ERIC Educational Resources Information Center

    Kaduson, Heidi Gerard, Ed.; Schaefer, Charles E., Ed.

    Play therapy offers a powerful means of helping children resolve a wide range of psychological difficulties, and many play approaches are ideally suited to short-term work. This book brings together leading play therapists to share their expertise on facilitating children's healing in a shorter time frame. The book provides knowledge and skills…

  3. Teaching Literature to Adolescents: Short Stories.

    ERIC Educational Resources Information Center

    Dunning, Stephen

    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…

  4. On double reduction of short pulse equation

    NASA Astrophysics Data System (ADS)

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

    2015-10-01

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

  5. Collis-Nissen gastroplasty for short oesophagus.

    PubMed

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

    2015-01-01

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

  6. Short-pulse laser materials processing

    SciTech Connect

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

    1997-06-18

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

  7. Short Historical Fiction To Get Children Reading.

    ERIC Educational Resources Information Center

    Sullivan, Kathleen

    1997-01-01

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

  8. Aircraft concepts for advanced short haul systems

    NASA Technical Reports Server (NTRS)

    Galloway, T. L.

    1975-01-01

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

  9. Teaching Trickster Figures in Short Fiction.

    ERIC Educational Resources Information Center

    McKenna, John J.

    2001-01-01

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

  10. Short storybooks to build conceptual understanding

    NASA Astrophysics Data System (ADS)

    Variano, Evan

    2014-11-01

    To help students build intuitive or conceptual understanding of key fluids concepts, I present short stories written in the style of childrens' books. The goal is to provide analogies with a strong visual component, in a format that allows students to return for a quick review. The content, philosophy, and initial student feedback will be discussed.

  11. A hybrid short read mapping accelerator

    PubMed Central

    2013-01-01

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

  12. Heterogeneity in Short Gamma-Ray Bursts

    NASA Technical Reports Server (NTRS)

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

    2011-01-01

    We analyze the Swift/BAT sample of short gamma-ray bursts, using an objective Bayesian Block procedure to extract temporal descriptors of the bursts' initial pulse complexes (IPCs). The sample comprises 12 and 41 bursts with and without extended emission (EE) components, respectively. IPCs of non-EE bursts are dominated by single pulse structures, while EE bursts tend to have two or more pulse structures. The medians of characteristic timescales - durations, pulse structure widths, and peak intervals - for EE bursts are factors of approx 2-3 longer than for non-EE bursts. A trend previously reported by Hakkila and colleagues unifying long and short bursts - the anti-correlation of pulse intensity and width - continues in the two short burst groups, with non-EE bursts extending to more intense, narrower pulses. In addition we find that preceding and succeeding pulse intensities are anti-correlated with pulse interval. We also examine the short burst X-ray afterglows as observed by the Swift/XRT. The median flux of the initial XRT detections for EE bursts (approx 6 X 10(exp -10) erg / sq cm/ s) is approx > 20 x brighter than for non-EE bursts, and the median X-ray afterglow duration for EE bursts (approx 60,000 s) is approx 30 x longer than for non-EE bursts. The tendency for EE bursts toward longer prompt-emission timescales and higher initial X-ray afterglow fluxes implies larger energy injections powering the afterglows. The longer-lasting X-ray afterglows of EE bursts may suggest that a significant fraction explode into more dense environments than non-EE bursts, or that the sometimes-dominant EE component efficiently p()wers the afterglow. Combined, these results favor different progenitors for EE and non-EE short bursts.

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

    PubMed

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

    2004-11-01

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

  14. 19 CFR 357.102 - Short supply allowances.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

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

  15. 19 CFR 357.102 - Short supply allowances.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

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

  16. 19 CFR 357.102 - Short supply allowances.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

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

  17. 19 CFR 207.27 - Short life cycle products.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

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

  18. 19 CFR 207.27 - Short life cycle products.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

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

  19. 19 CFR 207.27 - Short life cycle products.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 19 Customs Duties 3 2011-04-01 2011-04-01 false Short life cycle products. 207.27 Section 207.27... SUBSIDIZED EXPORTS TO THE UNITED STATES Final Determinations, Short Life Cycle Products § 207.27 Short life... short life cycle merchandise which has been the subject of two or more affirmative...

  20. 19 CFR 207.27 - Short life cycle products.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

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

  1. 19 CFR 207.27 - Short life cycle products.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

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

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

    SciTech Connect

    Juhao Wu; Alex Chao; Jean Delayen

    2007-06-18

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

  3. Short-time dynamics of percolation observables

    SciTech Connect

    Wanzeller, Wanderson G.; Mendes, Tereza; Krein, Gastao

    2006-11-15

    We consider the critical short-time evolution of magnetic and droplet-percolation order parameters for the Ising model in two and three dimensions, through Monte Carlo simulations with the (local) heat-bath method. We find qualitatively different dynamic behaviors for the two types of order parameters. More precisely, we find that the percolation order parameter does not have a power-law behavior as encountered for the magnetization, but develops a scale (related to the relaxation time to equilibrium) in the Monte Carlo time. We argue that this difference is due to the difficulty in forming large clusters at the early stages of the evolution. Our results show that, although the descriptions in terms of magnetic and percolation order parameters may be equivalent in the equilibrium regime, greater care must be taken to interpret percolation observables at short times. In particular, this concerns the attempts to describe the dynamics of the deconfinement phase transition in QCD using cluster observables.

  4. Familial short fifth metacarpals and insulin resistance.

    PubMed

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

    2006-09-01

    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

  5. Short Read Alignment Using SOAP2.

    PubMed

    Hurgobin, Bhavna

    2016-01-01

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

  6. Electron Transport in Short Peptide Single Molecules

    NASA Astrophysics Data System (ADS)

    Cui, Jing; Brisendine, Joseph; Ng, Fay; Nuckolls, Colin; Koder, Ronald; Venkarataman, Latha

    We present a study of the electron transport through a series of short peptides using scanning tunneling microscope-based break junction method. Our work is motivated by the need to gain a better understanding of how various levels of protein structure contribute to the remarkable capacity of proteins to transport charge in biophysical processes such as respiration and photosynthesis. We focus here on short mono, di and tri-peptides, and probe their conductance when bound to gold electrodes in a native buffer environment. We first show that these peptides can bind to gold through amine, carboxyl, thiol and methyl-sulfide termini. We then focus on two systems (glycine and alanine) and show that their conductance decays faster than alkanes terminated by the same linkers. Importantly, our results show that the peptide bond is less conductive than a sigma carbon-carbon bond. This work was supported in part by NSF-DMR 1507440.

  7. Theory of Short-Range Magnetic Order

    NASA Astrophysics Data System (ADS)

    Sokol, Alexander

    1996-03-01

    I will discuss why it may be desirable to develop a theory of short range magnetic order in the context of high-temperature superconductivity, review advantages and disadvantages of the existing approaches, and present a theory developed specifically to provide accurate results for short range rather than long range order. This theory, which is applicable to both ferromagnets and antiferromagnets, to leading order does not distinguish between longitudinal and transverse spin wave modes. Its predictions for correlations everywhere in the Brillouin zone are found to have several per cent agreement with the numerical and experimental (neutron scattering and NMR) data for S=1/2 and S=1 layered antiferromagnets in the temperature range where the correlation length is ~ 10-15 lattice spacings or less. In the second part of the talk, I will discuss the applicability of this theory to the doped cuprates and related materials and models. In collaboration with Rajiv R.P. Singh and Norbert Elstner.

  8. Short Form of the Developmental Behaviour Checklist

    PubMed Central

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

    2008-01-01

    A 24-item short form of the 96-item Developmental Behaviour Checklist was developed to provide a brief measure of Total Behaviour Problem Score for research purposes. The short form Developmental Behaviour Checklist (DBC-P24) was chosen for low bias and high precision from among 100 randomly selected item sets. The DBC-P24 was developed from epidemiological data in the first three waves of the Australian Child to Adult Development study, and cross validated for groups with autism, fragile X, Prader-Willi, and Williams in this longitudinal study and in cross sectional Dutch, English, and Finnish samples of young people with intellectual disability. The DBC-P24 has low bias and high precision in cross-validation samples and achieves high sensitivity and specificity to full DBC-P based caseness decisions. PMID:17181389

  9. Ultimately short ballistic vertical graphene Josephson junctions

    PubMed Central

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

    2015-01-01

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

  10. Skylab short-lived event alert program

    NASA Technical Reports Server (NTRS)

    Citron, R. A.

    1974-01-01

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

  11. Transient nanobubbles in short-time electrolysis.

    PubMed

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

    2013-05-01

    Water electrolysis in a microsystem is observed and analyzed on a short-time scale of ∼10 μs. The very unusual properties of the process are stressed. An extremely high current density is observed because the process is not limited by the diffusion of electroactive species. The high current is accompanied by a high relative supersaturation, S > 1000, that results in homogeneous nucleation of bubbles. On the short-time scale only nanobubbles can be formed. These nanobubbles densely cover the electrodes and aggregate at a later time to microbubbles. The effect is significantly intensified with a small increase of temperature. Application of alternating polarity voltage pulses produces bubbles containing a mixture of hydrogen and oxygen. Spontaneous reaction between gases is observed for stoichiometric bubbles with sizes smaller than ∼150 nm. Such bubbles disintegrate violently affecting the surfaces of the electrodes. PMID:23598648

  12. Transient nanobubbles in short-time electrolysis

    NASA Astrophysics Data System (ADS)

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

    2013-05-01

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

  13. Short pulse free electron laser amplifier

    DOEpatents

    Schlitt, Leland G.; Szoke, Abraham

    1985-01-01

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

  14. Short time cycles of purely quantum refrigerators.

    PubMed

    Feldmann, Tova; Kosloff, Ronnie

    2012-05-01

    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

  15. Short range atomic migration in amorphous silicon

    NASA Astrophysics Data System (ADS)

    Strauß, F.; Jerliu, B.; Geue, T.; Stahn, J.; Schmidt, H.

    2016-05-01

    Experiments on self-diffusion in amorphous silicon between 400 and 500 °C are presented, which were carried out by neutron reflectometry in combination with 29Si/natSi isotope multilayers. Short range diffusion is detected on a length scale of about 2 nm, while long range diffusion is absent. Diffusivities are in the order of 10-19-10-20 m2/s and decrease with increasing annealing time, reaching an undetectable low value for long annealing times. This behavior is strongly correlated to structural relaxation and can be explained as a result of point defect annihilation. Diffusivities for short annealing times of 60 s follow the Arrhenius law with an activation enthalpy of (0.74 ± 0.21) eV, which is interpreted as the activation enthalpy of Si migration.

  16. Unlocking Short Read Sequencing for Metagenomics

    DOE PAGESBeta

    Rodrigue, Sébastien; Materna, Arne C.; Timberlake, Sonia C.; Blackburn, Matthew C.; Malmstrom, Rex R.; Alm, Eric J.; Chisholm, Sallie W.; Gilbert, Jack Anthony

    2010-07-28

    We describe an experimental and computational pipeline yielding millions of reads that can exceed 200 bp with quality scores approaching that of traditional Sanger sequencing. The method combines an automatable gel-less library construction step with paired-end sequencing on a short-read instrument. With appropriately sized library inserts, mate-pair sequences can overlap, and we describe the SHERA software package that joins them to form a longer composite read.

  17. Short wavelength striations on expanding plasma clouds

    SciTech Connect

    Winske, D.; Gary, S.P.

    1989-01-01

    The growth and evolution of short wavelength (

  18. Alchemy with short-lived radionuclides

    SciTech Connect

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

    1981-04-01

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

  19. Deformable mirror for short wavelength applications

    DOEpatents

    Chapman, Henry N.; Sweeney, Donald W.

    1999-01-01

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

  20. Unlocking Short Read Sequencing for Metagenomics.

    SciTech Connect

    Rodrigue, S A. C.; Materna, S C; Timberlake, M C; Blacburn, R R; Malmstrom, E J. Alm; Chisholm, S W

    2010-01-01

    We describe an experimental and computational pipeline yielding millions of reads that can exceed 200 bp with quality scores approaching that of traditional Sanger sequencing. The method combines an automatable gel-less library construction step with paired-end sequencing on a short-read instrument. With appropriately sized library inserts, mate-pair sequences can overlap, and we describe the SHERA software package that joins them to form a longer composite read.

  1. Source of coherent short wavelength radiation

    DOEpatents

    Villa, Francesco (Alameda, CA)

    1990-01-01

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

  2. Modeling and control parameters for GMAW, short-circuiting transfer

    SciTech Connect

    Cook, G.E.; DeLapp, D.R.; Barnett, R.J.; Strauss, A.M.

    1996-12-31

    Digital signal processing was used to analyze the electrical arc signals of the gas metal arc welding process with short-circuiting transfer. Among the features extracted were arc voltage and current (both average and peak values), short-circuiting frequency, arc period, shorting period, and the ratio of the arcing to shorting period. Additionally , a Joule heating model was derived which accurately predicted the melt-back distance during each short. The short-circuiting frequency, the ratio of the arc period to short periods, and the melt-back distance were found to be good indicators for monitoring and control of stable arc conditions.

  3. Interference with visual short-term memory.

    PubMed

    Logie, R H; Zucco, G M; Baddeley, A D

    1990-10-01

    Working memory (Baddeley and Hitch 1974) incorporates the notion of a visuo-spatial sketch pad; a mechanism thought to be specialized for short-term storage of visuo-spatial material. However, the nature and characteristics of this hypothesized mechanism are as yet unclear. Two experiments are reported which examined selective interference in short-term visual memory. Experiment 1 contrasted recognition memory span for visual matrix patterns with that for visually presented letter sequences. These two span tasks were combined with concurrent arithmetic or a concurrent task which involved manipulation of visuo-spatial material. Results suggested that although there was a small, significant disruption by concurrent arithmetic of span for the matrix patterns, there was a substantially larger disruption of the letter span task. The converse was true for the secondary visuo-spatial task. Experiment 2 combined the span tasks with two established tasks developed by Brooks (1967). Span for matrix patterns was disrupted by a visuo-spatial task but not by a secondary verbal task. The converse was true for letter span. These results suggest that the impairment in short-term visual memory resulting from secondary arithmetic reflects a small general processing load, but that the selective interference due to mode of processing is by far the stronger effect. Results are interpreted as being entirely consistent with the notion of a specialized visuo-spatial mechanism in working memory. PMID:2260493

  4. The Long and the Short of It

    NASA Technical Reports Server (NTRS)

    2006-01-01

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

  5. Short-pulse Laser Processing of CFRP

    NASA Astrophysics Data System (ADS)

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

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

  6. Short gamma-ray bursts: A review

    NASA Astrophysics Data System (ADS)

    D'Avanzo, P.

    2015-09-01

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

  7. Ultra-short silicon MMI duplexer

    NASA Astrophysics Data System (ADS)

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

    2012-11-01

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

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

    NASA Technical Reports Server (NTRS)

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

    1973-01-01

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

  9. Stretching short DNA tethers using optical tweezers

    NASA Astrophysics Data System (ADS)

    Reihani, Nader; Bosanac, Lana; Hansen, Thomas M.; Oddershede, Lene B.

    2006-08-01

    With the evolution of single molecule techniques as force-scope optical tweezers, it has become possible to perform very accurate measurements of the elastic properties of biopolymers as e.g. DNA. Nucleic acid elasticity is important in the interaction of these molecules with proteins and protein complexes in the living cell. Most experimental and theoretical effort has been aimed at uncovering and understanding of the behavior of polymers with contour lengths significantly longer than their persistence length. The well-established Worm-Like-Chain model has been modified such that a satisfactory description of such long biopolymers is available. However, in many single molecule experiments, such as the unfolding of RNA stem-loops1 and RNA pseudoknots,2 one is dealing with biopolymers whose contour lengths are comparable to persistence lengths. A full understanding of such curves requires an understanding of the physics of short biopolymers. For such cases, theories are just beginning to emerge and there is hardly any experimental data available. We target this problem by optical tweezers quantitative force-extension measurements on short biopolymers. The biopolymers used are primarily double stranded DNA whose total length ( 300 nm) is comparable to their persistence length ( 50 nm). As a control of our equipment and methods, we also stretch longer dsDNA (1100 nm), the force-extension curves of which resemble those in literature. 3 For the short DNA the force-extension curves qualitatively resemble those predicted by WLC theories, but a reasonable fit can only be made if the persistence length is allowed to be a fitting parameter. If made a fitting parameter, the 'apparent persistence length' is found as 8.7+/-4 nm, a number which is significantly lower than the real physical value.

  10. Dissipation regimes for short wind waves

    NASA Astrophysics Data System (ADS)

    Caulliez, Guillemette

    2013-02-01

    The dissipation processes affecting short wind waves of centimeter and decimeter scales are investigated experimentally in laboratory. The processes include damping due to molecular viscosity, generation of capillary waves, microbreaking, and breaking. The observations were made in a large wind wave tank for a wide range of fetches and winds, using a laser sheet and a high-resolution video camera. The work aims at constructing a comprehensive picture of dissipative processes in the short wind wave field, to find for which scales particular dissipative mechanism may become important. Four distinct regimes have been identified. For capillary-gravity wave fields, i.e., for dominant waves with scales below 4 cm, viscous damping is found to be the main dissipation mechanism. The gravity-capillary wave fields with dominant wavelength less than 10 cm usually exhibit a train of capillary ripples at the crest wavefront, but no wave breaking. For such waves, the main dissipation process is molecular viscosity occurring through nonlinear energy cascade toward high-frequency motions. Microscale breaking takes place for waves longer than 10 cm and manifests itself in a very localized surface disruption on the forward face of the crest. Such events generate turbulent motions in water and thus enhance wave dissipation. Plunging breaking, characterized by formation of a crest bulge, a microjet hitting the water surface and a splash-up, occurs for short gravity waves of wavelength exceeding 20 cm. Macroscale spilling breaking is also observed for longer waves at high winds. In both cases, the direct momentum transfer from breaking waves to the water flow contributes significantly to wave damping.

  11. ACS Internal CTE Monitor and Short Darks

    NASA Astrophysics Data System (ADS)

    Lian Lim, Pey

    2010-09-01

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

  12. Colliding droplets: a short film presentation

    SciTech Connect

    Hendricks, C.D.

    1981-12-22

    A series of experiments were performed in which liquid droplets were caused to collide. Impact velocities to several meters per second and droplet diameters up to 600 micrometers were used. The impact parameters in the collisions vary from zero to greater than the sum of the droplet radii. Photographs of the collisions were taken with a high speed framing camera in order to study the impacts and subsequent behavior of the droplets. The experiments will be discussed and a short movie film presentation of some of the impacts will be shown.

  13. The Fermilab short-baseline neutrino program

    NASA Astrophysics Data System (ADS)

    Camilleri, Leslie

    2015-10-01

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

  14. Short Bowel Syndrome in the Nicu

    PubMed Central

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

    2013-01-01

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

  15. Classification of short kinetics by shape.

    PubMed

    Sieburg, Hans B; Müller-Sieburg, Christa E

    2004-01-01

    Discerning significant relationships in small data sets remains challenging. We introduce here the Hamming distance matrix and show that it is a quantitative classifier of similarities among short time-series. Its elements are derived by computing a modified form of the Hamming distance of pairs of symbol sequences obtained from the original data sets. The values from the Hamming distance matrix are then amenable to statistical analysis. Examples from stem cell research are presented to illustrate different aspects of the method. The approach is likely to have applications in many fields. PMID:15107024

  16. A Variable Diameter Short Haul Civil Tiltrotor

    NASA Technical Reports Server (NTRS)

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

    1999-01-01

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

  17. Failure Prevention by Short Time Corrosion Tests

    SciTech Connect

    MICKALONIS, JOHN

    2005-05-01

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

  18. Short wavelength ion temperature gradient turbulence

    SciTech Connect

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

    2012-10-15

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

  19. Electrical characteristics of a short RFQ resonator

    SciTech Connect

    Ben-Zvi, I.; Jain, A.; Wang, H. . Dept. of Physics); Lombardi, A. . Lab. Nazionale di Legnaro)

    1990-01-01

    Electrical characteristics of a short RFQ resonator of the four rod'' type have been studied by carrying out measurements on models and numerical simulations using the MAFIA codes. An empirical formula is obtained for the capacitance of vane-like electrodes in a four-rod RFQ resonator. It is shown that the electrode supports could account for a significant part of the total capacitance. This additional capacitance may change the circuit symmetry and give rise to a dipole component. This effect can be compensated by appropriate modifications of the support structure. The beam offset due to a dipole component is estimated. 6 refs., 4 figs., 1 tab.

  20. Modulation compression for short wavelength harmonic generation

    SciTech Connect

    Qiang, J.

    2010-01-11

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

  1. Short-cavity squeezing in barium

    NASA Technical Reports Server (NTRS)

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

    1992-01-01

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

  2. Short medial approach harvesting of hamstring tendons.

    PubMed

    Lanternier, H; de Cussac, J B; Collet, T

    2016-04-01

    Harvesting the hamstring tendons for anterior cruciate ligament reconstruction is not straightforward to perform or to teach: the incision is small, the work-space is narrow and the surgeon's tactile feedback using the stripper is difficult to explain to juniors. The purpose of this short note is to describe a reliable means of harvesting the semitendinosus, gracilis or both. Patient and tourniquet positioning, instrumentation and landmarks are detailed; then the 6 steps (speed-bump 1, speed-bump 2, bubble, hook, expansions, stripper) are explained. PMID:26896410

  3. Longitudinal Diagnostics for Short Electron Beam Bunches

    SciTech Connect

    Loos, H.; ,

    2010-06-11

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

  4. Short pulse C-band Doppler scatterometer

    NASA Astrophysics Data System (ADS)

    Arakelyan, Artashes K.; Hambaryan, Astghik K.; Smolin, Aleksander I.; Karyan, Vanik V.; Hovhannesyan, Gagik G.; Alaverdyan, Eduard R.; Arakelyan, Arsen A.; Hambaryan, Vardan K.

    2005-05-01

    In this paper C-band (~5.75GHz), dual polarization, Doppler scatterometer is developed, for short distance remote sensing of water surface microwave reflective and spectrum characteristics simultaneous and coincident measurements, under laboratory-control conditions. Developed system will be set on a mobile bogie moving on the height of 6.5m along a stationary platform of 32m of length. It will allow carry out polarimetric (vv, vh, hh, hv), simultaneous and coincident microwave active measurements of pool water surface parameters at angles of incidence from the while of 0-40o.

  5. Short rise time intense electron beam generator

    DOEpatents

    Olson, Craig L.

    1987-01-01

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

  6. Short rise time intense electron beam generator

    DOEpatents

    Olson, C.L.

    1984-03-16

    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.

  7. The Fermilab short-baseline neutrino program

    SciTech Connect

    Camilleri, Leslie

    2015-10-15

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

  8. Analysis of short-rotation willow

    SciTech Connect

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

    1986-01-01

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

  9. Gravitational waves and short gamma ray bursts

    NASA Astrophysics Data System (ADS)

    Predoi, Valeriu

    2012-07-01

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

  10. Gravitational waves and short gamma ray bursts

    NASA Astrophysics Data System (ADS)

    Predoi, Valeriu

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

  11. Misidentifications in Pirandello's plays and short stories.

    PubMed

    Paciaroni, Maurizio; Kilcline, Thomas

    2013-01-01

    Luigi Pirandello was an Italian playwright, novelist, short story writer, poet, and one of the leading dramatists of the twentieth century. Pirandello used his plays and short stories to express his life philosophy which included the irony and bitterness of self-deception. In his works, his characters possess highly complex personalities, portrayed by ongoing and overlapping conflicts between illusion and reality. These manifestations of double personalities and confusion between imagination and reality are today known as psychopathological phenomena, classified as both delusional misidentification and reduplication syndromes. Here, individuals misidentify and reduplicate places, people, or events. These delusional syndromes (Capgras, Frégoli, intermetamorphosis, syndrome of subjective doubles) occur primarily in psychiatric illnesses (i.e. schizophrenia) and organic illnesses (i.e. right hemispheric stroke). For Pirandello, reality was highly subjective in all humans. However, misidentification and reduplication syndromes can manifest when this subjectivity gets out of control. With his works, Pirandello made philosophical concepts which had previously only been discussed by intellectuals available to a much larger audience. Pirandello continued to elaborate upon this concept of mutable ego, established by Blaise Pascal in the 1600s and carried on by the French psychologist Alfred Binet. PMID:23485894

  12. Short-term energy outlook, July 1998

    SciTech Connect

    1998-07-01

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

  13. Short term rehabilitation and ankle instability.

    PubMed

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

    2012-06-01

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

  14. SHORT-WAVELENGTH MAGNETIC BUOYANCY INSTABILITY

    SciTech Connect

    Mizerski, K. A.; Davies, C. R.; Hughes, D. W. E-mail: tina@maths.leeds.ac.uk

    2013-04-01

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

  15. Nuclear Lightcurve Observations of Short Period Comets

    NASA Astrophysics Data System (ADS)

    Mueller, Beatrice E. A.; Samarasinha, Nalin H.; Belton, Michael J. S.

    2002-02-01

    We propose to continue to observe rotational lightcurves of the nuclei of several short period comets where the nuclear flux dominates over any coma contribution. Our immediate goal is to derive rotational periods for these comets. Lower limits for axial ratios and estimates for effective nuclear cross sections (for a known or assumed albedo) will also be calculated. During the 2002A semester our candidate comets are 28P/Neujmin 1, 145P/Shoemaker-Levy 5, 148P/Anderson-LINEAR, P/Catalina (1999 XN120), and P/Tichy (2000 U6). Understanding the rotational parameters of a significant sample of short period comets, when taken individually and/or collectively, will allow us to (1) facilitate accurate interpretation of many observations of comae and nuclei, enabling us to understand the character of nuclear activity; (2) provide estimates to the structural parameters of cometary nuclei thus constraining the formation mechanisms of comets in the solar nebula and the corresponding environment of the solar nebula itself; (3) serve as a necessary reservoir of inputs to studies on cometary spin-orbit coupling and non-gravitational forces which help us understand their physical and dynamical evolution; and (4) facilitate future studies of ensemble nuclear properties of comets and TNOs.

  16. Short wavelength FELs using the SLAC linac

    SciTech Connect

    Winick, H.; Bane, K.; Boyce, R.

    1993-08-01

    Recent technological developments have opened the possibility to construct a device which we call a Linac Coherent Light Source (LCLS); a fourth generation light source, with brightness, coherence, and peak power far exceeding other sources. Operating on the principle of the free electron laser (FEL), the LCLS would extend the range of FEL operation to much aborter wavelength than the 240 mn that has so far been reached. We report the results of studies of the use of the SLAC linac to drive an LCLS at wavelengths from about 3-100 nm initially and possibly even shorter wavelengths in the future. Lasing would be achieved in a single pass of a low emittance, high peak current, high energy electron beam through a long undulator. Most present FELs use an optical cavity to build up the intensity of the light to achieve lasing action in a low gain oscillator configuration. By eliminating the optical cavity, which is difficult to make at short wavelengths, laser action can be extended to shorter wavelengths by Self-Amplified-Spontaneous-Emission (SASE), or by harmonic generation from a longer wavelength seed laser. Short wavelength, single pass lasers have been extensively studied at several laboratories and at recent workshops.

  17. Phylogenetic classification of short environmental DNA fragments

    PubMed Central

    Krause, Lutz; Diaz, Naryttza N.; Goesmann, Alexander; Kelley, Scott; Nattkemper, Tim W.; Rohwer, Forest; Edwards, Robert A.; Stoye, Jens

    2008-01-01

    Metagenomics is providing striking insights into the ecology of microbial communities. The recently developed massively parallel 454 pyrosequencing technique gives the opportunity to rapidly obtain metagenomic sequences at a low cost and without cloning bias. However, the phylogenetic analysis of the short reads produced represents a significant computational challenge. The phylogenetic algorithm CARMA for predicting the source organisms of environmental 454 reads is described. The algorithm searches for conserved Pfam domain and protein families in the unassembled reads of a sample. These gene fragments (environmental gene tags, EGTs), are classified into a higher-order taxonomy based on the reconstruction of a phylogenetic tree of each matching Pfam family. The method exhibits high accuracy for a wide range of taxonomic groups, and EGTs as short as 27 amino acids can be phylogenetically classified up to the rank of genus. The algorithm was applied in a comparative study of three aquatic microbial samples obtained by 454 pyrosequencing. Profound differences in the taxonomic composition of these samples could be clearly revealed. PMID:18285365

  18. Short hyperdynamic profiles influence primate temperature regulation

    NASA Technical Reports Server (NTRS)

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

    1982-01-01

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

  19. Hurst exponents for short time series

    NASA Astrophysics Data System (ADS)

    Qi, Jingchao; Yang, Huijie

    2011-12-01

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

  20. Short Term Exogenic Climate Change Forcing

    NASA Astrophysics Data System (ADS)

    Krahenbuhl, Daniel

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