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Sample records for short stature hypotonia

  1. Short stature

    MedlinePlus

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

  2. Imaging in short stature

    PubMed Central

    Chaudhary, Vikas; Bano, Shahina

    2012-01-01

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

  3. 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

  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. 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

  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. 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

  8. Whole exome sequencing to identify genetic causes of short stature

    PubMed Central

    Guo, Michael H.; Shen, Yiping; Walvoord, Emily C.; Miller, Timothy C.; Moon, Jennifer E.; Hirschhorn, Joel N; Dauber, Andrew

    2014-01-01

    Background/Aims Short stature is a common reason for presentation to pediatric endocrinology clinics. However, for most patients, no cause for the short stature can be identified. As genetics plays a strong role in height, we sought to identify known and novel genetic causes of short stature. Methods We recruited 14 children with severe short stature of unknown etiology. We conducted whole exome sequencing of the patients and their family members. We used an analysis pipeline to identify rare nonsynonymous genetic variants that cause the short stature. Results We identified a genetic cause of short stature in 5 of the 14 patients. This included cases of Floating Harbor syndrome, Kenny-Caffey syndrome, the progeroid form of Ehlers-Danlos syndrome, as well as two cases of the 3-M syndrome. For remaining patients, we have generated lists of candidate variants. Conclusions Whole exome sequencing can help identify genetic causes of short stature in the context of defined genetic syndromes, but may be less effective in identifying novel genetic causes of short stature in individual families. Utilized in the clinic, whole exome sequencing can provide clinically relevant diagnoses for these patients. Rare syndromic causes of short stature may be under-recognized and under-diagnosed in pediatric endocrinology clinics. PMID:24970356

  9. ASSOCIATION BETWEEN SHORT STATURE AND HAIR ELEMENTS.

    PubMed

    Tabatadze, T; Zhorzholiani, L; Kherkheulidze, M; Karseladze, R; Ivanashvili, T

    2015-10-01

    Aim - assessment of hair elemental status, determination of elemental imbalances and heavy metal concentration and evaluation its impact on child liner growth. Case-control study involves 112 children less than 5 years old (target group - 54 children with short stature, control - 58 children with normal physical development). Medical history, nutritional status, anthropological parameters were assessed. Patients with genetic and endocrine disorders, family short stature were excluded from the study. Child elemental status was detected in the hair, with roentgen-fluorescence spectrometer method. Statistical analysis was conduced using SPPS19. Assessment of the dietary history does not reveal any significant differences between the groups, the only exception was consumption of fish, that was statistically significantly lower than in control (p<0,05). The study revealed deficiency of some elements in both (study and control) groups, but there were significant difference between the groups: Zn deficiency 90% versus 40% (p<0,05), Ca deficiency 62 and 36 (p<0,05), Cu deficiency 50 and 16 (p<0,05) and Mn deficiency 30 and 6 (p<0,05) accordingly. Level of some elements (K, S, Br, Cl, Co, Ag, V, Ni, Rb, Sr, Ti, Ba, As, Cd, Zr, Sb) have normal values. Some element deficiency (Fe, Mo, Se) was higher in study group but the difference was not significant. The study revealed high level of hair lead in both groups: all patients (100%) of target group have elevated level of hair lead, among them in 35,8% the content of lead was above so-called minimal allowed level (p<5,0 ppm) and in 64,5% the content of lead in the hair was above so-called maximal allowed level (p≥5,0 ppm). In the control group, lead in the hair was detected in 78% of cases, though the concentration was only in 2% of cases higher than so called maximum allowed. Our study clearly indicated deficiency of trace elements, particularly essential ones and high lead contamination in children with short stature. Our

  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. Psychological functioning in idiopathic short stature.

    PubMed

    Noeker, Meinolf

    2011-01-01

    Living with idiopathic short stature (ISS) may entail significant risks to psychological functioning and quality of life. Apparent inconsistency among study findings can be resolved if methodological differences among study designs are taken into account (i.e., definition of particular endpoints, sample selection from clinic or population, source of report, specific or generic assessment instruments, statistical control of confounders). Some individuals fail and others succeed in mastering the challenges of ISS. The principles of multifinality and equifinality may explain the emergence of a broad variation of individuals with ISS as a result of an interaction of the individual medical and auxological features on the one side, and psychosocial risk and protective factors on the other. As a result, patients may show heterogeneous developmental outcomes ranging from clinical psychopathology to development of resilience. A taxonomy of four distinct pathways of adaptation to ISS is delineated as a basis for case formulation and treatment planning. Psychological intervention in ISS includes counseling, cognitive-behavioral therapy and assertiveness training to improve psychological functioning via enhancement of target coping behaviors for critical situations. PMID:21912169

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

    PubMed

    Morrison, Michael

    2015-04-01

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

  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. Short and tall stature: a new paradigm emerges

    PubMed Central

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

    2016-01-01

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

  17. 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

  18. Psychosocial assessment of children with short stature: a preliminary report.

    PubMed

    Skuse, D; Gilmour, J; Tian, C S; Hindmarsh, P

    1994-12-01

    Previous studies that have examined the psychosocial adjustment of children with short stature have often been flawed, for two main reasons: first, a lack of sample homogeneity and, secondly, the measures of adjustment used have been limited in terms of their sensitivity. This paper examines psychological functioning in the following four broad areas: cognition, social behaviour, emotional adjustment and self-concept. A sample of children referred to growth clinics (mean height below -2 SDS) and a comparison group, recruited from the referred childrens' classes at school, were assessed. Children were prepubertal (age range, 6-11 years) and had no organic cause for their short stature. Parent, teacher and peer reports were used in the assessment, which included sociometric measures in the classroom. The children with short stature described themselves as equally well supported as the comparison children in terms of social support by parents, teachers, peers and friends. Peers reported the short children to be well accepted within their class. Compared with control children, there was a trend for short children to be described by their peers as socially better adjusted than average. Teacher and parental accounts revealed significant group differences in terms of reported behaviour, with poorer attention and more thought problems among the children with short stature. Further analysis suggested, however, that their slightly lower IQ than children of normal height (95.8 +/- 18.7 (mean +/- SD) compared with 105 +/- 15.4) accounted for a greater proportion of the variance in these findings than short stature per se. There is little evidence to indicate that short prepubertal children are psychosocially maladjusted.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:7734805

  19. 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 ...

  20. 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

  1. Different chromosome Y abnormalities in a case with short stature

    PubMed Central

    Balkan, Mahmut; Fidanboy, Mehmet; Özbek, M. Nuri; Alp, M. Nail; Budak, Turgay

    2012-01-01

    We report a case with different chromosome Y abnormalities. Case was an 11-year-old boy, who was diagnosed with short stature, referred to laboratory of human medical genetics laboratory for genetic evaluation. Chromosomal analysis of the case was carried out on peripheral blood lymphocyte culture. Classic cytogenetic analysis (G and C banding) was confirmed by using fluorescence in situ hybridization analysis (FISH) technique. Cytogenetic and FISH analysis showed a mosaic 46,X,i(Yq)/45,X/47,X,i(Yq)x2/47,XYY karyotype. Case, which was found interesting due to its rarity, is discussed with its clinical features and cytogenetic results, in the light of relevant source information. This case underlines the importance of karyotyping patients with unexplained short stature. This clinical report also will be helpful in defining the phenotypic range associated with these karyotypes.

  2. 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

  3. 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

  4. 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

  5. Short stature in children: Pattern and frequency in a pediatric clinic, Riyadh, Saudi Arabia

    PubMed Central

    Al-Jurayyan N, Nasir A.; Mohamed, Sarar H.; Al Otaibi, Hessah M.; Al Issa, Sharifah T.; Omer, Hala G.

    2012-01-01

    Longitudinal growth assessment is essential in child care. Short stature can be promptly recognized only with accurate measurements of growth and critical analysis of growth data. The objective of this study was to determine the pattern of short stature among patients referred to an endocrine pediatric clinic, King Khalid University Hospital (KKUH), Riyadh, Saudi Arabia and to ascertain the aetiological profile of short stature. This is a retrospective review of patients referred to a pediatric endocrine clinic with short stature during the period January 1990 and December 2009. After a proper detailed medical history, growth analysis and physical examination, followed by a radiological (bone age) and laboratory screening (complete blood count and thyroid function). Growth hormone stimulation tests were performed when indicated. Magnetic resonance imaging (MRI) of the pituitary was performed when necessary. As well, celiac screening and small bowel biopsy were performed when appropriate. During the period under review, hundred and ten patients were evaluated for short stature. Their age ranged from 2 years and six months to 4 years. The male to female ratio was 1.3:1. The commonest etiology was genetic short stature found in 57 (51.8%) patients, while in the other 53 (48.2%) patients, variable endocrine and nutritional causes were noted. Short stature was a common referral. A wide variety of etiological diagnosis was noticed with genetic short stature being the commonest. A wide variety of endocrine causes were evident, with growth hormone deficiency, as a results of different etiologies, being the commonest.

  6. 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

  7. Neonatal hypotonia.

    PubMed

    Sparks, Susan E

    2015-06-01

    Neonatal hypotonia is a common problem in the neonatal intensive care unit. The genetic differential diagnosis is broad, encompassing primary muscular dystrophies, chromosome abnormalities, neuropathies, and inborn errors of metabolism. Recognition of hypotonia is relatively straightforward, but determining the cause can be challenging. It is important for the neonatologist to have an organized approach to the assessment of neonatal hypotonia. Physical examination and history alongside basic laboratory testing and imaging aid in the differential diagnosis. Identification of the cause is essential for determining prognosis, associated morbidities, and recurrence risk. The prevailing therapeutic modality is physical, occupational, speech/feeding, and respiratory therapy. PMID:26042909

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

    PubMed Central

    Frindik, J Paul; Kemp, Stephen F

    2010-01-01

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

  9. Moral assessment of growth hormone therapy for children with idiopathic short stature.

    PubMed Central

    Verweij, M; Kortmann, F

    1997-01-01

    The prescription of growth hormone therapy for children who are not growth hormone deficient is one of the controversies in contemporary paediatric endocrinology. Is it morally appropriate to enhance the growth, by means of medical treatment, of a child wish idiopathic short stature? The medical, moral, and philosophical questions in this area are many. Data on the effects of human growth hormone (hGH) treatment will not on their own provide us with answers, as these effects have to be evaluated from a normative perspective. In this article we consider hGH treatment for children of idiopathic short stature from three normative perspectives: the goals of medicine, the good of the patient, and the public good. We argue that the prevention of psychological and social problems due to short stature (and not merely the enhancement of growth) should be the ultimate goal of medical treatment and research. PMID:9358351

  10. Short stature and dysmorphology associated with defects in the SHOX gene.

    PubMed

    Leka, Sofia K; Kitsiou-Tzeli, Sofia; Kalpini-Mavrou, Ariadni; Kanavakis, Emmanuel

    2006-01-01

    Since its discovery in 1997, knowledge about the SHOX gene ( Short stature HOmeoboX-containing gene) has rapidly advanced. Although originally described as causing idiopathic short stature, SHOX mutations are also responsible for growth retardation in Léri-Weill dyschondrosteosis, Langer mesomelic dysplasia and Turner syndrome. Furthermore, SHOX has a broad functional scope and leads to a variety of different morphological-skeletal stigmata associated with these syndromes. This article reviews clinical and molecular data associated SHOX gene defects. Functional ongoing studies are expected to improve our understanding of the SHOX gene as comprising part of a genetic process responsible for normal growth and bone development. PMID:16807223

  11. Microcephaly-lymphedema syndrome: report of a family with short stature as additional manifestation.

    PubMed

    Strenge, S; Froster, U G

    1998-12-28

    Patients with the rare autosomal dominant microcephaly-lymphedema syndrome have apparently normal intelligence. We report on a boy with microcephaly, lymphedema, and short stature as an additional manifestation. The family history of our patient suggests autosomal dominant inheritance with reduced penetrance and variable expressivity. However, X-linked inheritance cannot be excluded. PMID:9880217

  12. 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…

  13. Keratoconus posticus circumscriptus, cleft lip and palate, genitourinary abnormalities, short stature, and mental retardation in sibs

    PubMed Central

    Young, I D; Macrae, W G; Hughes, H E; Crawford, J S

    1982-01-01

    This paper describes two sibs in each of whom Keratoconus posticus circumscriptus is associated with multiple abnormalities. These include short stature, mental retardation, cleft lip and palate, and vertebral anomalies. The authors have been unable to trace any former reports of an identical condition and suggest that the findings in these children may represent a previously unrecognised malformation syndrome showing probable autosomal recessive inheritance. Images PMID:7143385

  14. 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

  15. 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

  16. Short stature, mental retardation and multiple dysmorphisms in two unrelated females: one or two different syndromes or none?

    PubMed

    Pfeiffer, R A; Kapferer, L; Tietze, H U

    1996-01-01

    We report on two unrelated mentally retarded girls aged 14 and 24 years with short stature and strikingly similar craniofacial dysmorphisms. Whether they share the same entity or different unknown syndromes remains an open question. PMID:8897043

  17. Family exhibiting cerebellar-like ataxia, photosensitivity and shortness of stature - a new inborn error of tryptophan metabolism.

    PubMed Central

    Fenton, D A; Wilkinson, J D; Toseland, P A

    1983-01-01

    Two cases in a brother and sister of a previously undescribed hereditary syndrome are reported. The features, which include shortness of stature, photosensitivity and cerebellar-like ataxia, are attributed to a new inborn error of tryptophan metabolism. PMID:6620277

  18. Short stature

    MedlinePlus

    ... physical exam. The provider will measure your child's height, weight, and arm and leg lengths. To figure out ... problems Your provider keeps records of your child's height and weight. Keep your own records, too. Bring these records ...

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

    PubMed Central

    Noda, Masahiro; Sato, Naoko; Tanaka, Toshiaki

    2015-01-01

    Abstract We compared the growth of 183 children with short stature (≤ 2SD) and 73 children of normal height at age six who were visiting the Tanaka Growth Clinic. We classified these short children as suffering from either idiopathic short stature (ISS, n = 119), GH deficiency (GHD, n = 33) or small-for-gestational-age short stature (SGASS, n = 31) on the basis of subsequent test results and other factors. We also conducted a retrospective study of changes in their height, wt and nutritional intake over time. The mean changes in height SD score from birth to 6 yr were –0.24 SD in normal height children with a normal birth length and +2.27 SD in normal height children with a low birth length. In short children, these changes were –1.93 SD for children with ISS, –2.41 SD for those with GHD and +0.58 for those with SGASS. The mean changes from birth to 6 mo were –0.84 SD, −1.03 SD and +0.38 SD in children with ISS, GHD and SGASS, respectively. The mean change in height SD score from birth to age 1 yr was –1.07 SD, –1.44 SD and +0.35 SD, respectively. The decrease in height SD score from birth to 6 mo accounted for 43.5% of the decrease in height SD score from birth to 6 yr in children with ISS and it accounted for 42.6% of the decrease in children with GHD. Only 19% of short children bottle-fed well, and 53% fed poorly, as opposed to 56% and 16% of normal height children who fed well and poorly, respectively. Post weaning, only 22% of short children ate well, and 56% fed poorly, as opposed to 53% and 17% of normal height children who fed well and poorly, respectively. These findings demonstrated that growth failure started from early infancy in ISS and GHD children. It was suggested that poor nutritional intake in infancy and early childhood was a partial cause of short stature at age 6. PMID:25678754

  20. Short Stature in Isodicentric Y Chromosome and Three Copies of the SHOX Gene: Clinical Report and Review of Literature.

    PubMed

    Valetto, Angelo; Bertini, Veronica; Michelucci, Angela; Toschi, Benedetta; Dati, Eleonora; Baroncelli, Giampietro I; Bertelloni, Silvano

    2016-04-01

    Short stature homeobox gene (SHOX) mutations and pseudoautosomal region 1 (PAR1) deletions encompassing SHOX are known causes of Léri-Weill dyschondrosteosis and isolated short stature, while 3 copies of SHOX in cases with triple sex chromosome constitution are responsible for tall stature. Duplications involving SHOX have been rarely reported, and they were found in individuals with short, normal and tall stature. An adopted boy with short stature, isodicentric Y chromosome and 3 copies of SHOX is described. Normal growth hormone (GH) secretion and insulin-like growth factor 1 (IGF1) increase during an IGF1 generation test were found, ruling out impaired GH-IGF1 axis. No other organic or psychiatric causes of impaired growth were found. GH treatment improved linear growth, as reported in children with SHOX haploinsufficiency. This new report and the review of literature support that SHOX duplication may cause short stature, especially in those children with duplications of the 5'SHOX regulatory elements. Chromosome analysis and detailed molecular characterization of the duplicated region should be warranted in individuals with SHOX duplications in order to investigate the presence of occult chromosome imbalance. Additional reports and follow-up till adult height are needed to give conclusions on long-term efficacy and safety of GH treatment in short children with SHOX duplication. PMID:27194969

  1. 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

  2. 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

  3. Rare copy number variants are a common cause of short stature.

    PubMed

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

    2013-01-01

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

  4. 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

  5. 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

  6. Spinal anesthesia using Taylor's approach helps avoid general anesthesia in short stature asthmatic patient

    PubMed Central

    Patil, Amarjeet Dnyandeo; Bapat, Manasi; Patil, Sunita A.; Gogna, Roshan Lal

    2015-01-01

    The case history of a 35-year-old female patient with short stature is presented. She was posted for rectopexy in view of rectal prolapse. She was a known case of bronchial asthma. She had crowding of intervertebral spaces, which made administration of spinal anesthesia via the normal route very difficult. Taylor's approach for administration of the same was tried and proved successful, thus saving the patient from receiving general anesthesia in the presence of bronchial asthma, for a perineal surgery. The possible cause for the difficulty in administration of spinal anesthesia and the Taylor's approach are discussed, and reports of similar cases reviewed. PMID:26543472

  7. Short stature in children of Karapotó ethnic background, São Sebastião, Alagoas, Brazil

    PubMed Central

    Campos, Samara Bomfim Gomes; de Menezes, Risia Cristina Egito; Oliveira, Maria Alice Araújo; da Silva, Danielle Alice Vieira; Longo-Silva, Giovana; Oliveira, Juliana Souza; Asakura, Leiko; Costa, Emília Chagas; Leal, Vanessa Sá

    2016-01-01

    Abstract Objective: To describe the prevalence of short stature among children of Karapotó ethnic background. Methods: Cross-sectional, population-based study that included children between 6 and 59 months of age from the Plak-Ô native village and the Terra Nova settlement, São Sebastião, Alagoas, carried out between 2008 and 2009. Short stature was evaluated by the Height/Ageindex, using as cutoff z score≤−2. The prevalence of short stature was determined by compa-ring simple and relative frequencies. The population growth curves were compared to the WHO reference curves. Data analysis included the outcome variable: Height/Age and the predictor variables: place of residence, gender, age, anemia, birth weight, family income, maternal literacy. The chi-square test was used to compare the categorical variables, where as the chi-square test with Yates correction was used for dichotomous variables, considering as statistically significant p-values≤0.05. Results: The prevalence of short stature was 15.6% for children from the Terra Nova settlement and 9.1% for those from Plak-Ô native village. The prevalence of short stature among the Karapotó ethnicity was 13.4%. The variables: maternal literacy, family income and low birth weight were statistically associated with short stature. Conclusions: The observed short stature prevalence rates are significant, being characterized as a public health problem. Among the associated factors, the following are noteworthy: unfavorable conditions of maternal literacy, family income and low birth weight. The planning of strategies to reverse the situation must take such factors into consideration. PMID:26652132

  8. 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

  9. 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

  10. Social and school competencies in children with short stature: longitudinal patterns.

    PubMed

    Holmes, C S; Karlsson, J A; Thompson, R G

    1985-10-01

    Longitudinal evaluation of 47 children with short stature secondary to growth hormone deficiency (GHD), constitutional delay (CD), and Turner's syndrome (TS) was undertaken approximately 3 years after initial assessment. Parent ratings of social and school competence indicated a developmental trend of poorer adjustment during early adolescence (ages 12 and 14), which was preceded (age 9) and followed (age 17) by age-appropriate functioning. Evaluation of social competence scores suggested that large organized group activities were avoided, although children had close friends with whom they interacted regularly. Children with short stature obtained age-expected scores for their involvement in solitary activities (i.e., hobbies and household chores) and tended to participate in individual sports (i.e., fishing, swimming), consistent with a pattern of withdrawal from large groups. Younger children with CD evidenced academic functioning at least 1 SD higher than children from all other groups, and this age-related effect may explain performance inconsistencies reported previously with other groups of CD children. Of the children studied, girls with TS experienced the greatest academic difficulty. PMID:4066961

  11. Disorders of childhood growth and development: failure to thrive versus short stature.

    PubMed

    Grissom, Maureen

    2013-07-01

    Failure to thrive (FTT) describes retarded growth in height and weight, whereas short stature (SS) involves comparison of a child or adolescent's height to that of a reference group or to his or her own height across time. To identify either condition in infants, children, and adolescents, the family physician should focus on accurate measurement of length/height and weight as well as careful plotting and assessment of the rate of linear growth and weight gain based on World Health Organization standards (from birth to 2 years) and Centers for Disease Control and Prevention charts (from age 2 years). Identification of the etiologies of FTT and SS is complex, requiring consideration of such factors as birth weight, prematurity, and familial height. FTT can result from inadequate caloric intake (eg, caused by difficulties with nursing, limited food availability, or incorrect formula preparation), inadequate caloric absorption (eg, resulting from metabolic, gastrointestinal, or other medical conditions), or excessive caloric expenditure/ineffective utilization (eg, due to hyperthyroidism, diabetes, pulmonary or cardiac conditions). Short stature can be due to a primary growth disorder, such as bone disease or chromosomal syndrome; a secondary factor, such as a chronic medical or endocrine disorder; or an undetermined etiology. The management of FTT and SS requires attention to a combination of medical and behavioral/social issues (eg, treating underlying conditions, assisting with the feeding process, addressing stress and social functioning), and often requires a multidisciplinary approach. PMID:23869390

  12. 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

  13. [How do Affected Children and Adolescents Experience their Short Stature, and what is the Point of View of their Parents?].

    PubMed

    Quitmann, Julia; Rohenkohl, Anja; Sommer, Rachel; Petzold, Sophie; Bullinger-Naber, Monika

    2014-01-01

    How do Affected Children and Adolescents Experience their Short Stature, and what is the Point of View of their Parents? Despite a large number of publications on the psychosocial situation of short statured children and their parents only a few qualitative studies focus on the perspective of the affected families. Within the European QoLISSY study ("Quality of Life in Short Stature Youth") an instrument to assess the health related quality of life of short statured children was developed. The aim of this project was to examine the self-perceived quality of life of the children themselves in comparison to their parents' perspective. During the development of the QoLISSY instrument, focus groups were conducted as a first step of this study. A total of 23 short statured children and 31 parents participated and discussed their experiences in separate groups with trained moderators. The discussions were analyzed qualitatively und results were used to generate a first list of items for the questionnaire to be developed. While parents focused on socio-emotional problems, children talked much more about their growth hormone treatment and problems in their social environment. In comparison to other studies children rated their quality of life worse than their parents. Not only medical treatment but also a psychological and socio-emotional intervention seems to be indicated. PMID:25524035

  14. 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

  15. 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

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

    PubMed

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

    2013-06-01

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

  17. 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

  18. 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

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

    PubMed

    Quitmann, Julia Hannah; 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

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

    PubMed Central

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

    2012-01-01

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

  1. 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

  2. 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

  3. 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

  4. Common VDR polymorphisms and idiopathic short stature in children from northern Greece

    PubMed Central

    Emmanouilidou, E; Galli-Tsinopoulou, A; Kyrgios, I; Gbandi, E; Goulas, A

    2015-01-01

    Background: A Vitamin D Receptor gene (VDR) polymorphism, rs10735810 (Fok1), has been associated in the past with idiopathic short stature (ISS) in a linkage study. We have investigated the association of the same, as well as a different polymorphism in the same gene [rs731236 (Taq1)] with ISS, in an independent study in Greek children. Methods: The VDR rs10735810 (Fok1) and rs731236 (Taq1) polymorphisms were genotyped in a group of ISS children (n= 47) and an age and sex-matched group of normal height children (n= 60) from northern Greece. Genotyping was accomplished through established PCR-RFLP methods. Results: An association trend of rs10735810 with ISS was observed, with the TT (ff) genotype being apparently underrepresented among ISS children compared to controls (p= 0.076; OR= 0.165, 95% CI= 0.025-1.094). Conclusions: The above results, together with recent evidence related to the functionality of the rs10735810 polymorphism, cannot exclude an involvement of VDR in the pathogenesis of ISS. Hippokratia 2015, 19 (1): 25-29. PMID:26435642

  5. Biallelic SEMA3A defects cause a novel type of syndromic short stature.

    PubMed

    Hofmann, Kristin; Zweier, Markus; Sticht, Heinrich; Zweier, Christiane; Wittmann, Wolfgang; Hoyer, Juliane; Uebe, Steffen; van Haeringen, Arie; Thiel, Christian T; Ekici, Arif B; Reis, André; Rauch, Anita

    2013-11-01

    Chromosomal microarray testing is commonly used to identify disease causing de novo copy number variants in patients with developmental delay and multiple congenital anomalies. In such a patient we now observed an 150 kb deletion on chromosome 7q21.11 affecting the first exon of the axon guidance molecule gene SEMA3A (sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A). This deletion was inherited from the healthy father, but considering the function of SEMA3A and phenotypic similarity to the knock-out mice, we still assumed a pathogenic relevance and tested for a recessive second defect. Sequencing of SEMA3A in the patient indeed revealed the de novo in-frame mutation p.Phe316_Lys317delinsThrSerSerAsnGlu. Cloning of the mutated allele in combination with two informative SNPs confirmed compound heterozygosity in the patient. While the altered protein structure was predicted to be benign, aberrant splicing resulting in a premature stop codon was proven by RT-PCR to occur in about half of the transcripts from this allele. Expression profiling in human fetal and adult cDNA panels, confirmed a high expression of SEMA3A in all brain regions as well as in adult and fetal heart and fetal skeletal muscle. Normal intellectual development in the patient was surprising but may be explained by the remaining 20% of SEMA3A expression level demonstrated by quantitative RT-PCR. We therefore report a novel autosomal recessive syndrome characterized by postnatal short stature with relative macrocephaly, camptodactyly, septal heart defect and several minor anomalies caused by biallelic mutations in SEMA3A. PMID:24124006

  6. Severe short stature and Wolf-Hirschhorn syndrome: response to growth hormone in two cases without growth hormone deficiency.

    PubMed

    Austin, Devon E; Gunn, Alistair J; Jefferies, Craig A

    2015-02-01

    Wolf-Hirschhorn syndrome (WHS) is a rare congenital disorder occurring in approximately 1/50 000 births, with marked pre- and postnatal growth failure. WHS results from the hemizygous deletion encompassing the 4p16.3 region. This report of two children with WHS shows that growth hormone treatment in selected children with WHS and severe short stature may have a substantial effect on long-term growth. PMID:25988083

  7. 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

  8. Safe Cosmetic Leg Lengthening for Short Stature: Long-term Outcomes.

    PubMed

    Elbatrawy, Yasser; Ragab, Ibrahim Mohammed A

    2015-07-01

    It is well known that limb lengthening is performed to treat limb-length discrepancies resulting from congenital anomalies and developmental problems. However, few studies discuss lengthening for cosmetic purposes. The current authors conducted a prospective study with long-term follow-up. From July 2002 through June 2007, 133 patients requested that their height be increased. Fifty-two were approved to undergo limb-lengthening surgery. Two were lost to final follow-up, leaving 50 in the study group. For all patients, the Ilizarov ring external fixator was applied with a maximum-stability technique that achieved frame stability and allowed patients to ambulate with a walker from the first week postoperatively. The method requires close follow-up for early detection of problems. Physiotherapy improved ankle function and prevented plantar flexion deformity, which can occur during lengthening. Excellent final outcomes were achieved in all patients except one, who required additional surgery. The Ilizarov device is a safe tool for limb lengthening in individuals of short stature when applied with the authors' maximum stability technique. To the authors' knowledge, this is the first article on this topic to report long-term results (minimum 5-year follow-up for all patients). Many factors influence the outcome of lengthening surgery performed with Ilizarov devices: the material of the rings, the use of a hybrid technique combining pins and wires, the diameter and number of pins over each bone segment, the size of the rings around the limb, the surgical technique for pin insertion, and the use of hydroxyapatite-coated pins or regular stainless pins. PMID:26186315

  9. Short Stature: Comparison of WHO and National Growth Standards/References for Height

    PubMed Central

    Christesen, Henrik Thybo; Pedersen, Birgitte Tønnes; Pournara, Effie; Petit, Isabelle Oliver; Júlíusson, Pétur Benedikt

    2016-01-01

    The use of appropriate growth standards/references is of significant clinical importance in assessing the height of children with short stature as it may determine eligibility for appropriate therapy. The aim of this study was to determine the impact of using World Health Organization (WHO) instead of national growth standards/references on height assessment in short children. Data were collected from routine clinical practice (1998–2014) from nine European countries that have available national growth references and were enrolled in NordiNet® International Outcome Study (IOS) (NCT00960128), a large-scale, non-interventional, multinational study. The patient cohort consisted of 5996 short pediatric patients diagnosed with growth hormone deficiency (GHD), Turner syndrome (TS) or born small for gestational age (SGA). The proportions of children with baseline height standard deviation score (SDS) below clinical cut-off values (–2 SDS for GHD and TS; –2.5 SDS for SGA) based on national growth references and WHO growth standards/references were compared for children aged <5 years and children aged ≥5 years. In seven of the countries evaluated, significantly fewer children aged ≥5 years with GHD (22%; P<0.0001), TS (21%; P<0.0001) or born SGA (32%; P<0.0001) had height below clinical cut-off values using WHO growth references vs. national references. Likewise, among children aged <5 years in the pooled analysis of the same seven countries, a significantly lower proportion of children with GHD (8%; P<0.0001), TS (12%; P = 0.0003) or born SGA (12%; P<0.0001) had height below clinical cut-off values using WHO growth standards vs. national references. In conclusion, in NordiNet® IOS the number of patients misclassified using WHO growth standards/references was significantly higher than with national references. This study highlights that, although no growth reference has 100% sensitivity for identifying growth disorders, the most recent national or regional

  10. 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

  11. An XRCC4 Splice Mutation Associated With Severe Short Stature, Gonadal Failure, and Early-Onset Metabolic Syndrome

    PubMed Central

    de Bruin, Christiaan; Mericq, Verónica; Andrew, Shayne F.; van Duyvenvoorde, Hermine A.; Verkaik, Nicole S.; Losekoot, Monique; Porollo, Aleksey; Garcia, Hernán; Kuang, Yi; Hanson, Dan; Clayton, Peter; van Gent, Dik C.; Wit, Jan M.; Hwa, Vivian

    2015-01-01

    Context: Severe short stature can be caused by defects in numerous biological processes including defects in IGF-1 signaling, centromere function, cell cycle control, and DNA damage repair. Many syndromic causes of short stature are associated with medical comorbidities including hypogonadism and microcephaly. Objective: To identify an underlying genetic etiology in two siblings with severe short stature and gonadal failure. Design: Clinical phenotyping, genetic analysis, complemented by in vitro functional studies of the candidate gene. Setting: An academic pediatric endocrinology clinic. Patients or Other Participants: Two adult siblings (male patient [P1] and female patient 2 [P2]) presented with a history of severe postnatal growth failure (adult heights: P1, −6.8 SD score; P2, −4 SD score), microcephaly, primary gonadal failure, and early-onset metabolic syndrome in late adolescence. In addition, P2 developed a malignant gastrointestinal stromal tumor at age 28. Intervention(s): Single nucleotide polymorphism microarray and exome sequencing. Results: Combined microarray analysis and whole exome sequencing of the two affected siblings and one unaffected sister identified a homozygous variant in XRCC4 as the probable candidate variant. Sanger sequencing and mRNA studies revealed a splice variant resulting in an in-frame deletion of 23 amino acids. Primary fibroblasts (P1) showed a DNA damage repair defect. Conclusions: In this study we have identified a novel pathogenic variant in XRCC4, a gene that plays a critical role in non-homologous end-joining DNA repair. This finding expands the spectrum of DNA damage repair syndromes to include XRCC4 deficiency causing severe postnatal growth failure, microcephaly, gonadal failure, metabolic syndrome, and possibly tumor predisposition. PMID:25742519

  12. 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

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

    PubMed

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

    2014-01-01

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

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

    PubMed

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

    2011-04-01

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

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

    PubMed

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

    2013-02-01

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

  16. 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. PMID:26640080

  17. Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.

    PubMed

    Boyle, Lia; Wamelink, Mirjam M C; Salomons, Gajja S; Roos, Birthe; Pop, Ana; Dauber, Andrew; Hwa, Vivian; Andrew, Melissa; Douglas, Jessica; Feingold, Murray; Kramer, Nancy; Saitta, Sulagna; Retterer, Kyle; Cho, Megan T; Begtrup, Amber; Monaghan, Kristin G; Wynn, Julia; Chung, Wendy K

    2016-06-01

    Whole-exome sequencing (WES) is increasingly being utilized to diagnose individuals with undiagnosed disorders. Developmental delay and short stature are common clinical indications for WES. We performed WES in three families, using proband-parent trios and two additional affected siblings. We identified a syndrome due to an autosomal-recessively inherited deficiency of transketolase, encoded by TKT, on chromosome 3p21. Our series includes three families with a total of five affected individuals, ranging in age from 4 to 25 years. Two families of Ashkenazi Jewish ancestry were homozygous for an 18 base pair in-frame insertion in TKT. The third family was compound heterozygous for nonsense and missense variants in TKT. All affected individuals had short stature and were developmentally delayed. Congenital heart defects were noted in four of the five affected individuals, and there was a history of chronic diarrhea and cataracts in the older individuals with the homozygous 18 base pair insertion. Enzymatic testing confirmed significantly reduced transketolase activity. Elevated urinary excretion of erythritol, arabitol, ribitol, and pent(ul)ose-5-phosphates was detected, as well as elevated amounts of erythritol, arabitol, and ribitol in the plasma of affected individuals. Transketolase deficiency reduces NADPH synthesis and nucleic acid synthesis and cell division and could explain the problems with growth. NADPH is also critical for maintaining cerebral glutathione, which might contribute to the neurodevelopmental delays. Transketolase deficiency is one of a growing list of inborn errors of metabolism in the non-oxidative part of the pentose phosphate pathway. PMID:27259054

  18. 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

  19. Molecular investigation of two male subjects with short stature and a 45,X/46,X,ring(Y) karyotype.

    PubMed

    Sher, E S; Addelston, M B; Plotnick, L; Urban, M D; Berkovitz, G D

    1998-01-01

    We studied 2 subjects with a 45,X/46,X,ring(Y) karyotype. Both of them were evaluated because of short stature and a subnormal rate of linear growth. One patient had additional features of the Ullrich-Turner syndrome. Both subjects had normal male external genitalia. Two copies of the pseudoautosomal gene, MIC2, were present in DNA of each individual. All sequences examined on the Y-specific portion of the short arm, including those for the sex-determining region Y (SRY) gene, were present. By contrast, portions of the long arm of the Y chromosome were missing from DNA of both subjects. In subject 1, deletion intervals 6 and 7 were missing. In subject 2, deletion interval 5, distal to 5B, was missing in addition to intervals 6 and 7. The most likely explanation for the ring formation in these subjects is a chromosomal break in the long arm and in the pseudoautosomal region of the short arm distal to MIC2 with subsequent ligation of the remaining sequences on the long arm and short arm. However, a complex rearrangement cannot be excluded. PMID:9438785

  20. Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature.

    PubMed

    Petrovski, Slavé; Parrott, Roberta E; Roberts, Joseph L; Huang, Hongxiang; Yang, Jialong; Gorentla, Balachandra; Mousallem, Talal; Wang, Endi; Armstrong, Martin; McHale, Duncan; MacIver, Nancie J; Goldstein, David B; Zhong, Xiao-Ping; Buckley, Rebecca H

    2016-07-01

    The purpose of this research was to use next generation sequencing to identify mutations in patients with primary immunodeficiency diseases whose pathogenic gene mutations had not been identified. Remarkably, four unrelated patients were found by next generation sequencing to have the same heterozygous mutation in an essential donor splice site of PIK3R1 (NM_181523.2:c.1425 + 1G > A) found in three prior reports. All four had the Hyper IgM syndrome, lymphadenopathy and short stature, and one also had SHORT syndrome. They were investigated with in vitro immune studies, RT-PCR, and immunoblotting studies of the mutation's effect on mTOR pathway signaling. All patients had very low percentages of memory B cells and class-switched memory B cells and reduced numbers of naïve CD4+ and CD8+ T cells. RT-PCR confirmed the presence of both an abnormal 273 base-pair (bp) size and a normal 399 bp size band in the patient and only the normal band was present in the parents. Following anti-CD40 stimulation, patient's EBV-B cells displayed higher levels of S6 phosphorylation (mTOR complex 1 dependent event), Akt phosphorylation at serine 473 (mTOR complex 2 dependent event), and Akt phosphorylation at threonine 308 (PI3K/PDK1 dependent event) than controls, suggesting elevated mTOR signaling downstream of CD40. These observations suggest that amino acids 435-474 in PIK3R1 are important for its stability and also its ability to restrain PI3K activity. Deletion of Exon 11 leads to constitutive activation of PI3K signaling. This is the first report of this mutation and immunologic abnormalities in SHORT syndrome. PMID:27076228

  1. Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis.

    PubMed

    Shima, Hirohito; Tanaka, Toshiaki; Kamimaki, Tsutomu; Dateki, Sumito; Muroya, Koji; Horikawa, Reiko; Kanno, Junko; Adachi, Masanori; Naiki, Yasuhiro; Tanaka, Hiroyuki; Mabe, Hiroyo; Yagasaki, Hideaki; Kure, Shigeo; Matsubara, Yoichi; Tajima, Toshihiro; Kashimada, Kenichi; Ishii, Tomohiro; Asakura, Yumi; Fujiwara, Ikuma; Soneda, Shun; Nagasaki, Keisuke; Hamajima, Takashi; Kanzaki, Susumu; Jinno, Tomoko; Ogata, Tsutomu; Fukami, Maki

    2016-07-01

    The etiology of idiopathic short stature (ISS) and Leri-Weill dyschondrosteosis (LWD) in European patients is known to include SHOX mutations and copy-number variations (CNVs) involving SHOX and/or the highly evolutionarily conserved non-coding DNA elements (CNEs) flanking the gene. However, the frequency and types of SHOX abnormalities in non-European patients and the clinical importance of mutations in the CNEs remains to be clarified. Here, we performed systematic molecular analyses of SHOX for 328 Japanese patients with ISS or LWD. SHOX abnormalities accounted for 3.8% of ISS and 50% of LWD cases. CNVs around SHOX were identified in 16 cases, although the ~47 kb deletion frequently reported in European patients was absent in our cases. Probably damaging mutations and benign/silent substitutions were detected in four cases, respectively. Although CNE-linked substitutions were detected in 15 cases, most of them affected poorly conserved nucleotides and were shared by unaffected individuals. These results suggest that the frequency and mutation spectrum of SHOX abnormalities are comparable between Asian and European patients, with the exception of a European-specific downstream deletion. Furthermore, this study highlights the clinical importance and genetic heterogeneity of the SHOX-flanking CNVs, and indicates a limited clinical significance of point mutations in the CNEs. PMID:26984564

  2. Interstitial duplication of 22q13.2 in a girl with short stature, impaired speech and language, and dysmorphism

    PubMed Central

    Samanich, Joy; Montagna, Cristina; Morrow, Bernice E.; Babcock, Melanie

    2012-01-01

    The 22q13.3 deletion syndrome has been widely reported, with a known phenotype including global developmental delay, normal to accelerated growth and a characteristic facial appearance. A duplication syndrome involving this region has also been reported, with a somewhat more variable phenotype including psychomotor retardation, growth restriction, characteristic facial appearance differing from that seen in the deletion syndrome, and multiple malformations. The majority of reported patients have terminal duplications, with only three previous reports of interstitial duplication of the region. Herein we report a young woman with a de novo 569 kb interstitial duplication of 22q13.2 and short stature, speech and language impairment, refractive amblyopia, menorrhagia and facial dysmorphism. Comparison of her phenotype to previously reported patients with interstitial duplications reveals common traits including growth restriction, craniofacial anomalies and developmental delays. Included in the duplicated region is the gene EP300, mutations and deletions of which are implicated in Rubinstein-Taybi syndrome and thyrotroph embryonic factor, which has been proposed to be related to the pituitary hypoplasia seen in one patient with a large duplication, and several other genes without clear relation to disease.

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

    PubMed

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

    2008-03-01

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

  5. A new structural model of the acid-labile subunit: pathogenetic mechanisms of short stature-causing mutations.

    PubMed

    David, Alessia; Kelley, Lawrence A; Sternberg, Michael J E

    2012-12-01

    The acid-labile subunit (ALS) is the main regulator of IGF1 and IGF2 bioavailability. ALS deficiency caused by mutations in the ALS (IGFALS) gene often results in mild short stature in adulthood. Little is known about the ALS structure-function relationship. A structural model built in 1999 suggested a doughnut shape, which has never been observed in the leucine-rich repeat (LRR) superfamily, to which ALS belongs. In this study, we built a new ALS structural model, analysed its glycosylation and charge distribution and studied mechanisms by which missense mutations affect protein structure. We used three structure prediction servers and integrated their results with information derived from ALS experimental studies. The ALS model was built at high confidence using Toll-like receptor protein templates and resembled a horseshoe with an extensively negatively charged concave surface. Enrichment in prolines and disulphide bonds was found at the ALS N- and C-termini. Moreover, seven N-glycosylation sites were identified and mapped. ALS mutations were predicted to affect protein structure by causing loss of hydrophobic interactions (p.Leu134Gln), alteration of the amino acid backbone (p.Leu241Pro, p.Leu172Phe and p.Leu244Phe), loss of disulphide bridges (p.Cys60Ser and p.Cys540Arg), change in structural constrains (p.Pro73Leu), creation of novel glycosylation sites (p.Asp440Asn) or alteration of LRRs (p.Asn276Ser). In conclusion, our ALS structural model was identified as a highly confident prediction by three independent methods and disagrees with the previously published ALS model. The new model allowed us to analyse the ALS core and its caps and to interpret the potential structural effects of ALS mutations. PMID:22991227

  6. Constitutional delay influences the auxological response to growth hormone treatment in children with short stature and growth hormone sufficiency.

    PubMed

    Gunn, Katherine C; Cutfield, Wayne S; Hofman, Paul L; Jefferies, Craig A; Albert, Benjamin B; Gunn, Alistair J

    2014-01-01

    In a retrospective, population based cohort study, we examined whether constitutional delay was associated with the growth response to growth hormone (GH) in children with short stature and normal GH responses. 70 patients were treated with 21 GH iu/m2/week from 1975 to 2013 throughout New Zealand. Demographic and auxological data were prospectively collected and standard deviation scores (SDS) were calculated for height (HtSDS), yearly growth velocity (GV-SDS), body mass index (BMI-SDS) and predicted adult height (PAH-SDS) at time of the last available bone age. In the first year, GH was associated with marked increase in HtSDS (+0.46 (0.19, 0.76), p < 0.001) and GV-SDS (from -1.9 (-3.6, -0.7) to +2.7 (0.45, 4.2), p < 0.001). The increase in HtSDS but not in GV-SDS was greatest with younger patients and greater bone age delay, with no effect of sex, BMI-SDS or baseline HtSDS. PAH-SDS increased with treatment (+0.94 (0.18, 1.5)); increased PAH-SDS was associated with less bone age delay and greater initial increase in HtSDS. This study shows that greater bone age delay was associated with greater initial improvement in height but less improvement in predicted adult heights, suggesting that children with very delayed bone ages may show accelerated maturation during GH treatment. PMID:25317732

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

    PubMed

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

    2010-02-01

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

  8. 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.

  9. Cleft Lip/Palate, Short Stature, and Developmental Delay in a Boy with a 5.6-Mb Interstitial Deletion Involving 10p15.3p14

    PubMed Central

    Gamba, Bruno F.; Rosenberg, Carla; Costa, Silvia; Richieri-Costa, Antonio; Ribeiro-Bicudo, Lucilene A.

    2015-01-01

    The chromosome interval 10p15.3p14 harbors about a dozen genes. This region has been implicated in a few well-known human phenotypes, namely HDR syndrome (hypoparathyroidism, sensorineural deafness, and renal dysplasia) and DGS2 (DiGeorge syndrome 2), but a number of variable phenotypes have also been reported. Cleft lip/palate seems to be a very unusual finding within the clinical spectrum of patients with this deletion. Here, we report a male child born with short stature, cleft lip/palate, and feeding problems who was found to have a 5.6-Mb deletion at 10p15.3p14. PMID:25852446

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

    PubMed

    Merjaneh, Lina; Parks, John S; Muir, Andrew B; Fadoju, Doris

    2014-01-01

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

  11. 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

  12. 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 ...

  13. Hypotonia

    MedlinePlus

    ... Neurology in Clinical Practice . 7th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 29. Johnston MV. Encephalopathies. In: ... Nelson Textbook of Pediatrics . 20th ed. Philadelphia, PA: Elsevier; 2016:chap 598. Marcdante KJ, Kliegman RM. Weakness ...

  14. Hypotonia

    MedlinePlus

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

  15. Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.

    PubMed

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

    2011-06-10

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

  16. 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

  17. A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

    PubMed Central

    Alston, Charlotte L; Howard, Caoimhe; Oláhová, Monika; Hardy, Steven A; He, Langping; Murray, Philip G; O'Sullivan, Siobhan; Doherty, Gary; Shield, Julian P H; Hargreaves, Iain P; Monavari, Ardeshir A; Knerr, Ina; McCarthy, Peter; Morris, Andrew A M; Thorburn, David R; Prokisch, Holger; Clayton, Peter E; McFarland, Robert; Hughes, Joanne; Crushell, Ellen; Taylor, Robert W

    2016-01-01

    Background Isolated Complex I deficiency is the most common paediatric mitochondrial disease presentation, associated with poor prognosis and high mortality. Complex I comprises 44 structural subunits with at least 10 ancillary proteins; mutations in 29 of these have so far been associated with mitochondrial disease but there are limited genotype-phenotype correlations to guide clinicians to the correct genetic diagnosis. Methods Patients were analysed by whole-exome sequencing, targeted capture or candidate gene sequencing. Clinical phenotyping of affected individuals was performed. Results We identified a cohort of 10 patients from 8 families (7 families are of unrelated Irish ancestry) all of whom have short stature (<9th centile) and similar facial features including a prominent forehead, smooth philtrum and deep-set eyes associated with a recurrent homozygous c.64T>C, p.Trp22Arg NDUFB3 variant. Two sibs presented with primary short stature without obvious metabolic dysfunction. Analysis of skeletal muscle from three patients confirmed a defect in Complex I assembly. Conclusions Our report highlights that the long-term prognosis related to the p.Trp22Arg NDUFB3 mutation can be good, even for some patients presenting in acute metabolic crisis with evidence of an isolated Complex I deficiency in muscle. Recognition of the distinctive facial features—particularly when associated with markers of mitochondrial dysfunction and/or Irish ancestry—should suggest screening for the p.Trp22Arg NDUFB3 mutation to establish a genetic diagnosis, circumventing the requirement of muscle biopsy to direct genetic investigations. PMID:27091925

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

    PubMed

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

    2014-06-01

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

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

    SciTech Connect

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

    1992-12-01

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

  20. 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

  1. 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

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

    PubMed

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

    2014-01-01

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

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

    PubMed Central

    2014-01-01

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

  4. Growth Hormone Deficiency, Short Stature, and Juvenile Rheumatoid Arthritis in a Patient with Autoimmune Polyglandular Syndrome Type 1: Case Report and Brief Review of the Literature

    PubMed Central

    Pun, Teresa; Chandurkar, Vikram

    2011-01-01

    Autoimmune polyglandular syndromes (APSs) include a cluster of autoimmune and nonautoimmune conditions which have been classified into subtypes. APSs type 1 is characterized by at least two of the following: chronic mucocutaneous candidiasis, chronic hypoparathyroidism, and autoimmune Addison's disease (AD). We report the chronological history of a female patient who presented with features most consistent with APS type 1, along with growth hormone deficiency and juvenile rheumatoid arthritis (JRA). In terms of her autoimmune diagnoses, she first presented with JRA at three years of age, then hypocalcemia and hypoparathyroidism at five years of age, type 1 diabetes (DM 1) at age eleven years, adrenal insufficiency at age fourteen years, recurrent mucocutaneous candidiasis as a teenager, growth hormone deficiency at age fourteen years leading to significant short stature, primary amenorrhoea, and hypogonadism, and finally alopecia at age twenty-six years. In addition to this, she has suffered other nonautoimmune medical problems including a Tetralogy of Fallot with a surgical repair at age six years. On review of the medical literature, we found no other previously reported case with this unique combination of medical problems. PMID:22363878

  5. 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

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

    SciTech Connect

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

    1984-02-01

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

  7. 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

  8. 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

  9. A polymorphism in the leptin receptor gene at position 223 is associated with growth hormone replacement therapy responsiveness in idiopathic short stature and growth hormone deficiency patients.

    PubMed

    Su, Pen-Hua; Yang, Shun-Fa; Yu, Ju-Shan; Chen, Suh-Jen; Chen, Jia-Yuh

    2012-12-01

    We hypothesized that responses to growth hormone (GH) therapy by idiopathic short stature (ISS) and growth hormone deficiency (GHD) patients were associated with single nucleotide polymorphisms (SNPs) in the leptin (LEP) and leptin receptor (LEPR) genes. We retrospectively enrolled ISS (n = 32) and GHD (n = 38) patients and forty healthy age-and gender-matched children. They were genotyped for the LEP promoter at nt.-2548, and LEPR K109R and LEPR Q223R polymorphisms. Clinical and laboratory variables were determined before and after 2 years of GH treatment. ISS patients with G/A or A/A genotypes of the LEPR Q223R SNP had a significantly higher height velocity (cm/y) than ISS patients with the G/G genotype at 2 years after GH treatment. For GHD patients, G/A or A/A genotype of the LEPR K109R SNP was associated with higher body weight, higher BMI, and higher weight velocity than patients with the G/G genotype before GH treatment, but not after GH treatment. G/A or A/A genotype of the LEPR Q223R SNP was associated with a significantly higher body weight, higher height velocity before treatment, but not after GH treatment. G/A or A/A genotype of the LEPR Q223R SNP was associated with a significantly higher weight velocity before treatment, but a significantly lower weight velocity was found at 2 years after GH treatment. These results suggest LEPR Q223R SNP (rs1137101) is associated with outcomes of GH replacement therapy in ISS and GHD patients. PMID:23009903

  10. Endogenous insulin-like growth factor (IGF) binding proteins cause IGF-1 resistance in cultured fibroblasts from a patient with short stature.

    PubMed Central

    Tollefsen, S E; Heath-Monnig, E; Cascieri, M A; Bayne, M L; Daughaday, W H

    1991-01-01

    The ED50 of insulin-like growth factor (IGF)-I-stimulated alpha-aminoisobutyric acid (AIB) uptake (mean +/- SD) in cultured fibroblasts from a child with short stature that we have reported (1.40 +/- 0.24 nM), is significantly higher than the ED50 of IGF-I-stimulated AIB uptake in fibroblasts from 11 normal subjects (0.42 +/- 0.12 nM) and from 127 short children (0.35 +/- 0.11 nM). Similarly, the ED50 of IGF-I-stimulated thymidine incorporation in fibroblasts from this child is 2.8 times higher than that in fibroblasts from four normal subjects. To minimize potential modulation of IGF-I action by endogenous IGF binding proteins in these assays, fibroblast responsiveness to [Q3,A4,Y15,L16]IGF-I, an IGF-I variant that has a 600-fold reduced affinity for serum IGF binding proteins, has been examined. The biological activity of this variant is comparable in the patient's and normal fibroblasts, suggesting that the resistance to IGF-I action cannot be attributed to a defective IGF-I receptor. To investigate directly the possibility that IGF-I sensitivity in the patient's fibroblasts is reduced by endogenous IGF binding proteins (IGFBP), binding proteins that are secreted into AIB assay buffer during a 3-h collection and that are cell-associated at the end of the collection have been analyzed. Ligand blot analysis of conditioned AIB assay buffer demonstrates that fibroblasts from the patient secrete 1.3-2.2 times more of Mr 46,400/42,900, 32,000, and 26,800 binding proteins than normal fibroblasts. The major difference between fibroblasts from the patient and from normal subjects is a striking 10-fold increase in the amount of a cell surface Mr 32,000 binding protein in the patient's fibroblasts. The Mr 32,000 binding protein is similar in size to IGFB-1 and different from IGFBP-2 and IGFBP-3, but it does not cross-react with an antibody against IGFBP-1. We conclude that the resistance to IGF-I action in the patient's fibroblasts is caused by an abnormal production and

  11. [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

  12. Homoarginine (hArg) and asymmetric dimethylarginine (ADMA) in short stature children without and with growth hormone deficiency: hArg and ADMA are involved differently in growth in the childhood.

    PubMed

    Langen, Jennifer; Kayacelebi, Arslan Arinc; Beckmann, Bibiana; Weigt-Usinger, Katharina; Carmann, Christina; Hörster, Irina; Lilienthal, Eggert; Richter-Unruh, Annette; Tsikas, Dimitrios; Lücke, Thomas

    2015-09-01

    Adult subjects with growth hormone (GH) deficiency (GHD) are known to have reduced life expectancy due to increased cardiovascular and cerebrovascular events. In adults, these events are associated with elevated circulating concentrations of asymmetric dimethylarginine (ADMA) which is an endogenous inhibitor of L-arginine (Arg)-derived nitric oxide (NO). Low circulating concentrations of homoarginine (hArg) emerged as a cardiovascular risk factor. In adults, hArg seems to antagonize ADMA. In the present work, we tested the hypothesis that children with short stature without or with GHD have altered Arg/NO pathway as compared to children with normal growth. We studied 66 short stature children (38 boys, 28 girls) aged 3.5-17.3 years, who underwent the routine L-Arginine Test to diagnose presence of GHD. GHD was confirmed in 47 children (GHD group; 30 boys, 17 girls) and was absent in the remaining 19 children (non-GHD group; 8 boys, 11 girls). In addition, we investigated 24 healthy age- and gender-matched children (10 boys, 14 girls) with normal growth. In EDTA plasma samples of all children, we determined by mass spectrometry-based methods the concentrations of Arg, hArg and ADMA, and calculated the Arg/ADMA and hArg/ADMA molar ratios. With respect to these biochemical parameters, we did not find statistically significant differences between the GHD and non-GHD groups. Comparing short with normal stature children, we found small differences regarding plasma hArg concentrations [mean ± SD; median (25th-75th percentile)]: 2.06 ± 0.52 µM; 2.12 (1.74-2.36) µM vs. 1.7 ± 0.5 µM; 1.6 (1.4-1.8) µM, P < 0.001. Compared to normal stature children, short stature children had considerably higher plasma concentrations of ADMA [0.77 ± 0.15 µM; 0.77 (0.66-0.85) µM vs. 0.57 ± 0.09 µM; 0.58 (0.50-0.63) µM, P < 0.001], but not of Arg [83.3 ± 19.2 µM; 82.2 (71.9-90.3) µM vs. 86.5 ± 17.8 µM; 84.8 (77.2-94.8) µM, P = 0.336], or the hArg/ADMA ratio [2.74 ± 0.76; 2

  13. 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.

  14. The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.

    PubMed

    Couser, Natario L; Masood, Maheer M; Strande, Natasha T; Foreman, Ann Katherine M; Crooks, Kristy; Weck, Karen E; Lu, Mei; Wilhelmsen, Kirk C; Roche, Myra; Evans, James P; Berg, Jonathan S; Powell, Cynthia M

    2015-09-01

    The Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 (MCAHS1) has been described in two families to date. We describe a 2-year-old Mexican American boy with the syndrome and additional manifestations not yet reported as part of the phenotype. The patient presented with severe hypotonia, microphallus and left cryptorchidism, and was later diagnosed with epilepsy and severe cortical visual impairment. He also had supernumerary nipples, pectus excavatum, a short upturned nose, fleshy ear lobes, and a right auricular pit. Massively parallel exome sequencing and analysis revealed two novel compound heterozygous missense (Trp136Gly and Ser859Thr) variants in the PIGN gene. This report extends and further defines the phenotype of this syndrome. PMID:25920937

  15. 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.

  16. 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

  17. Zellweger syndrome: A cause of neonatal hypotonia and seizures

    PubMed Central

    Kheir, Abdelmoneim E. M.

    2011-01-01

    Zellweger syndrome, a paradigm of human peroxisomal disorders is characterized by dysmorphic features, hypotonia, severe neuro-developmental delay, hepatomegaly, renal cysts, sensorineural deafness and retinal dysfunction. This is a case report of a baby boy born with facial dysmorphism, profound hypotonia, seizures, and hepatomegaly. The diagnosis was not evident initially but only later when he presented with obstructive jaundiced and renal cysts. He died at the age of seven months. Biochemical studies revealed elevation of very long chain fatty acids and phytanic acid consistent with a peroxisomal disorder. The recognition of this syndrome is important since it is a fatal hereditary disease. Zellweger syndrome should be included in the differential diagnosis of infantile hypotonia and dysmorphism.

  18. 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

  19. 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

  20. 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

  1. Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population

    PubMed Central

    Wang, Yan; Peng, Wei; Guo, Hong-Yan; Li, Hui; Tian, Jie; Shi, Yu-Jing; Yang, Xiao; Yang, Yao; Zhang, Wan-Qiao; Liu, Xin; Liu, Guan-Nan; Deng, Tao; Sun, Yi-Min; Xing, Wan-li; Cheng, Jing; Feng, Zhi-Chun

    2016-01-01

    Neonatal hypotonia is extremely challenging to diagnose because numerous disorders present similar clinical manifestations. Two panels for diagnosing neonatal hypotonia were developed, which enriches 35 genes corresponding to 61 neonatal hypotonia-related disorders. A cohort of 214 neonates with hypotonia was recruited from 2012 to 2014 in China for this study. Of these subjects, twenty-eight neonates with hypotonia were eliminated according to exclusion criteria and 97 were confirmed using traditional detection methods. The clinical diagnoses of the remaining 89 neonates with hypotonia were approached by targeted next-generation sequencing (NGS). Among the 89 tested neonates, 25 potentially pathogenic variants in nine genes (RYR1, MECP2, MUT, CDKL5, MPZ, PMM2, MTM1, LAMA2 and DMPK) were identified in 22 patients. Six of these pathogenic variants were novel. Of the 186 neonates with hypotonia, we identified the genetic causes for 117 neonates by the traditional detection methods and targeted NGS, achieving a high solving rate of 62.9%. In addition, we found seven neonates with RETT syndrome carrying five mutations, thus expanding the mutation profiles in Chinese neonates with hypotonia. Our study highlights the utility of comprehensive molecular genetic testing, which provides the advantage of speed and diagnostic specificity without invasive procedures. PMID:27353517

  2. Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population.

    PubMed

    Wang, Yan; Peng, Wei; Guo, Hong-Yan; Li, Hui; Tian, Jie; Shi, Yu-Jing; Yang, Xiao; Yang, Yao; Zhang, Wan-Qiao; Liu, Xin; Liu, Guan-Nan; Deng, Tao; Sun, Yi-Min; Xing, Wan-Li; Cheng, Jing; Feng, Zhi-Chun

    2016-01-01

    Neonatal hypotonia is extremely challenging to diagnose because numerous disorders present similar clinical manifestations. Two panels for diagnosing neonatal hypotonia were developed, which enriches 35 genes corresponding to 61 neonatal hypotonia-related disorders. A cohort of 214 neonates with hypotonia was recruited from 2012 to 2014 in China for this study. Of these subjects, twenty-eight neonates with hypotonia were eliminated according to exclusion criteria and 97 were confirmed using traditional detection methods. The clinical diagnoses of the remaining 89 neonates with hypotonia were approached by targeted next-generation sequencing (NGS). Among the 89 tested neonates, 25 potentially pathogenic variants in nine genes (RYR1, MECP2, MUT, CDKL5, MPZ, PMM2, MTM1, LAMA2 and DMPK) were identified in 22 patients. Six of these pathogenic variants were novel. Of the 186 neonates with hypotonia, we identified the genetic causes for 117 neonates by the traditional detection methods and targeted NGS, achieving a high solving rate of 62.9%. In addition, we found seven neonates with RETT syndrome carrying five mutations, thus expanding the mutation profiles in Chinese neonates with hypotonia. Our study highlights the utility of comprehensive molecular genetic testing, which provides the advantage of speed and diagnostic specificity without invasive procedures. PMID:27353517

  3. A Pilot Study for Evaluation of Hypotonia in Children with Neurofibromatosis Type 1

    PubMed Central

    Soucy, Elizabeth A.; Wessel, Lauren E.; Gao, Feng; Albers, Anne C.; Gutmann, David H.; Dunn, Courtney M.

    2016-01-01

    There are currently no objective criteria to evaluate pediatric hypotonia. The purpose of this pilot study was to identify diagnostic criteria for assessing hypotonia in children with Neurofibromatosis type 1 (NF1). Fifty-five subjects between the ages of 1 and 7 years with a diagnosis of NF1 were evaluated. A physical therapist recorded a subjective tone assessment and objective tone metrics, including ankle dorsiflexion, knee extension, hip abduction, triceps fat percentage, grip strength and head lag during a pull-to-sit test. Multivariate logistic regression analysis showed the presence of head lag paired with increased hip range of motion was a significant predictor of hypotonia. The presence of head lag on a pull-to-sit test paired with increased hip range of motion is an accurate predictor of hypotonia in children with NF1. These objective measures should be prospectively evaluated in other pediatric populations for their ability to predict hypotonia. PMID:24789516

  4. 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

  5. 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

  6. 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

  7. Maternal stature, fertility and infant mortality.

    PubMed

    Martorell, R; Delgado, H L; Valverde, V; Klein, R E

    1981-09-01

    380 women of parity 1 or more living in coffee plantations of the Pacific lowlands of Guatemala were studied during the 18-month period from October 1977 to March 1979 to investigate the relationship between maternal stature, parity, offspring mortality, and number of surviving children. Average height was 142 cm or 4 feet 8 inches, average age was 28 years, and average parity was 4.4 children per woman: average number of surviving children per woman was 3. Simple correlation analysis shows that although shorter women appeared to have greater parities but fewer surviving children, the relationships were not statistically significant (p.05). However, when age and/or parity were adjusted, the association between maternal stature and number of surviving children became statistically significant (p.05). Children of shorter mothers exhibited high mortality rates which were not affected by adjustments for maternal age and parity (p.001). A possible explanation of the link between maternal stature and offspring survival is that taller women generally have heavier babies. This study suggests that maternal height can be used to identify infants at high mortality risk; this can have potential use in developing nations where many women do not get examined more than once during pregnancy. PMID:7309018

  8. Time structures, chronomes, of soldiers' stature mimicking Hale cycle in neonatal body length.

    PubMed

    Komlos, John; Cornélissen, Germaine; Woitek, Ulrich; Otsuka, K; Halberg, Franz

    2004-10-01

    The systematic patterns in human adult physical stature are explored in connection with Wolf's relative sunspot numbers. This topic should be of interest to economists, physicians as well as physicists. There is a need for more than a check of any similarity of curves in variables approximating the economy and human stature and for more than the application of mathematical models, as done herein. Ours is at best a halting step at one frequency, presented only to document the challenge of a transdisciplinary approach to multifrequency intermodulations of hosts of variables, yet to be untangled. The circumstance that at birth some decisions concerning adult stature are already made is challenging. The signature of the environment in terms of the about 21-year Hale bipolarity cycle of Wolf's relative sunspot numbers found in adult soldiers shows that the association at birth is not a transient one, even if other evidence beyond our scope herein points to the possibility that observations on presumably healthy soldiers can be extrapolated to abnormal growth. Nonetheless, the task for those concerned with short stature could become preventive if the sensitive stages when growth may be inhibited by the environment could be found, as well as means to shield from or counter the undesirable effects. PMID:15754852

  9. The Genetic Architecture of Barley Plant Stature

    PubMed Central

    Alqudah, Ahmad M.; Koppolu, Ravi; Wolde, Gizaw M.; Graner, Andreas; Schnurbusch, Thorsten

    2016-01-01

    Plant stature in temperate cereals is predominantly controlled by tillering and plant height as complex agronomic traits, representing important determinants of grain yield. This study was designed to reveal the genetic basis of tillering at five developmental stages and plant height at harvest in 218 worldwide spring barley (Hordeum vulgare L.) accessions under greenhouse conditions. The accessions were structured based on row-type classes [two- vs. six-rowed] and photoperiod response [photoperiod-sensitive (Ppd-H1) vs. reduced photoperiod sensitivity (ppd-H1)]. Phenotypic analyses of both factors revealed profound between group effects on tiller development. To further verify the row-type effect on the studied traits, Six-rowed spike 1 (vrs1) mutants and their two-rowed progenitors were examined for tiller number per plant and plant height. Here, wild-type (Vrs1) plants were significantly taller and had more tillers than mutants suggesting a negative pleiotropic effect of this row-type locus on both traits. Our genome-wide association scans further revealed highly significant associations, thereby establishing a link between the genetic control of row-type, heading time, tillering, and plant height. We further show that associations for tillering and plant height are co-localized with chromosomal segments harboring known plant stature-related phytohormone and sugar-related genes. This work demonstrates the feasibility of the GWAS approach for identifying putative candidate genes for improving plant architecture. PMID:27446200

  10. The Genetic Architecture of Barley Plant Stature.

    PubMed

    Alqudah, Ahmad M; Koppolu, Ravi; Wolde, Gizaw M; Graner, Andreas; Schnurbusch, Thorsten

    2016-01-01

    Plant stature in temperate cereals is predominantly controlled by tillering and plant height as complex agronomic traits, representing important determinants of grain yield. This study was designed to reveal the genetic basis of tillering at five developmental stages and plant height at harvest in 218 worldwide spring barley (Hordeum vulgare L.) accessions under greenhouse conditions. The accessions were structured based on row-type classes [two- vs. six-rowed] and photoperiod response [photoperiod-sensitive (Ppd-H1) vs. reduced photoperiod sensitivity (ppd-H1)]. Phenotypic analyses of both factors revealed profound between group effects on tiller development. To further verify the row-type effect on the studied traits, Six-rowed spike 1 (vrs1) mutants and their two-rowed progenitors were examined for tiller number per plant and plant height. Here, wild-type (Vrs1) plants were significantly taller and had more tillers than mutants suggesting a negative pleiotropic effect of this row-type locus on both traits. Our genome-wide association scans further revealed highly significant associations, thereby establishing a link between the genetic control of row-type, heading time, tillering, and plant height. We further show that associations for tillering and plant height are co-localized with chromosomal segments harboring known plant stature-related phytohormone and sugar-related genes. This work demonstrates the feasibility of the GWAS approach for identifying putative candidate genes for improving plant architecture. PMID:27446200

  11. Short stature, mental retardation, and hypoparathyroidism: a new syndrome.

    PubMed Central

    Richardson, R J; Kirk, J M

    1990-01-01

    Eight children (four boys and four girls) with extreme failure to thrive, dysmorphic features, developmental delay, hypoparathyroidism, and abnormal skeletal survey were studied. They were the products of seven consanguinous marriages, two of the patients being brothers. In the remaining six families, a further four children had affected siblings who had died in infancy. When assessed the children were aged 0.47-12.8 years; SD scores were less than -2 for height, weight, and head circumference in all patients. The children had identical facies with deep set eyes, depressed nasal bridge with beaked nose, long philtrum, thin upper lip, micrognathia, and large floppy earlobes. They were all developmentally retarded. The following abnormalities were found on investigation: hypocalcaemia in all (of whom six of seven had hypoparathyroidism), medullary stenosis and other skeletal survey defects in seven of the eight children, and reduced numbers of T cell subsets in four of four tested. We believe that these children represent a new, as yet undescribed genetically determined syndrome. Images Figure 2 PMID:1701077

  12. 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

  13. 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

  14. Revision of the Fully technique for estimating statures.

    PubMed

    Raxter, Michelle H; Auerbach, Benjamin M; Ruff, Christopher B

    2006-07-01

    The "anatomical" method of Fully (1956 Ann. Legale Med. 35:266-273) for reconstructing stature, involving the addition of skeletal elements from the calcaneus to the skull, has been increasingly used in anthropological and forensic contexts, but has undergone little systematic testing on samples other than the original sample used to develop the technique. The original description by Fully of the method also does not provide completely explicit directions for taking all of the necessary measurements. This study tested the accuracy and applicability of his method, and clarified measurement procedures. The study sample consisted of 119 adult black and white males and females of known cadaveric statures from the Terry Collection. Cadaveric statures were adjusted to living statures, following the recommendations of Trotter and Gleser (1952 Am. J. Phys. Anthropol. 10:469-514). We obtained the best results using maximum vertebral body heights (anterior to the pedicles) and measurement of the articulated talus and calcaneus height in anatomical position. Statures derived using the original Fully technique are strongly correlated with living statures in our sample (r = 0.96), but underestimate living stature by an average of about 2.4 cm. Anatomical considerations also suggest that the correction factors applied by Fully to convert summed skeletal height to living stature are too small. New formulae are derived to calculate living stature from skeletal height. There is no effect of sex or ancestry on stature prediction. Resulting stature estimates are accurate to within 4.5 cm in 95% of the individuals in our sample, with no directional bias. PMID:16425177

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

    ERIC Educational Resources Information Center

    Cohen, M. Michael, Jr.; And Others

    1973-01-01

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

  16. 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…

  17. Cervical spine geometry in the automotive seated posture: variations with age, stature, and gender.

    PubMed

    Desantis Klinich, Kathleen; Ebert, Sheila M; Van Ee, Chris A; Flannagan, Carol A C; Prasad, Monica; Reed, Matthew P; Schneider, Lawrence W

    2004-11-01

    In the mid 1970s, UMTRI investigated the biomechanical properties of the head and neck using 180 "normal" adult subjects selected to fill eighteen subject groups based on age (young, mid-aged, older), gender, and stature (short, medium, and tall by gender). Lateral-view radiographs of the subjects' cervical spines and heads were taken with the subjects seated in a simulated automotive neutral posture, as well as with their necks in full-voluntary flexion and full-voluntary extension. Although the cervical spine and lower head geometry were previously measured manually and documented, new technologies have enabled computer digitization of the scanned x-ray images and a more comprehensive and detailed analysis of the variation in cervical spine and lower head geometry with subject age, stature, and gender. After scanning the radiographic images, 108 skeletal landmarks on the cervical vertebrae and 10 head landmarks were digitized. The resulting database of cervical spine and head geometry was used to study cervical spine curvature, vertebral dimensions, and head/neck orientation as functions of age, gender, and stature. The data were used to characterize neutral posture cervical spine curvatures using two methods: a curvature index and Bézier spline functions. Lateral-view vertebral dimensions were also calculated for each subject, and a cascading series of equations was developed to estimate vertebral size and shape for a selected age, stature, and gender. The orientation of the cervical spine was defined using a neck chord angle, where the neck chord was varied to use different anatomical landmarks and estimates of joint centers for the top and bottom of the neck chord. Results from the study have been incorporated into a MS-Access based software package that allows researchers and modelers to generate cervical spine geometries for occupants of a specified age, gender, and stature. The program allows selection of individual occupants from the database that meet

  18. [Central muscular hypotonia of early childhood (hypotonic form of infantile cerebral paralysis)].

    PubMed

    Lesny, I; Pazourkova, E; Proshkova, M; Nikolaidu, L

    1978-01-01

    A total of 64 children from 6 months to 2,5 years with a hypotonic syndrome were observed. Follow-up studies were performed twice: after 1--1,5 years and after 2--3 years. In most of the cases (52 patients) the hypotonic syndrome towards the age of 6 slowly regressed, up to its complete disappearance. In these cases other neurological syndromes could appear (dyskinetic, spastic, minimal brain dysfunction), in the structure of which cerebellar symptoms occupied an important place. The intellectual development of these children was subnormal. In a lesser part of the cases (12 patients) the indicated dynamics of hypotonia was not seen, or it increased, while the intellectual devleopment of the children was characterized by mental retardation. These cases were evaluated as desintegration of development. The practical significance of the study of hypotonia for the prognosis is discussed. PMID:716721

  19. Cohen syndrome – a rare genetic cause of hypotonia in children

    PubMed Central

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

    2010-01-01

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

  20. 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

  1. Stature and sex estimate using foot and shoe dimensions.

    PubMed

    Ozden, Hilmi; Balci, Yasemin; Demirüstü, Canan; Turgut, Akin; Ertugrul, Mehmet

    2005-01-29

    The aim of the study was to develop a formula to estimate the stature and sex of an individual using foot and shoe dimensions. To this aim the stature, right and left shoe sizes, and maximum and minimum feet length and width measurements of a target group of 569 individuals were taken. The group was composed of 294 males and 275 females. The highest correlation coefficient was found in length measurements. A notable difference between males and females existed with regard to both right and left foot and shoe length and width averages and shoe sizes (p < 0.001). Among the group, a significant correlation was found in regard to stature and right shoe length (r = 0.591, p < 0.001), with the correlation between stature and right foot length and stature and right shoe length being 0.579 (p < 0.001); as for the female group, there was a significant correlation between stature and right foot length and stature and right shoe length (r = 0.460, p < 0.001). Thus the regression formula obtained are as follows: for the right side: sex = 69.169 + 0.173 (maximum foot length) - 0.368 (maximum foot width) - 0.820 (shoe length) + 0.224 (shoe width) - 1.280 (shoe number). For the left side: sex = 69.551 + 0.276 (maximum foot length) - 0.504 (maximum foot width) - 0.739 (shoe length) + 0.344 (shoe width) - 1.360 (shoe number). In application of the formula, if sex is lower than 0.50, the shoe belongs to a male, if higher, then to female. The formula which was obtained in regression analysis in order to estimate the stature when the measurements of shoe and foot were known. For the right side, stature = 47.93 + 1.083 (maximum foot length) + 0.788 (shoe length) 1.813 (shoe number) (SEE:31.410). For the left side: stature = 47.33 + 1.139 (maximum foot length) + 0.593 (shoe length) x 1.924 (shoe number) (SEE:31.607). It was understood that foot and shoe sizes are a criteria to estimate the stature of a person that there was a strong relationship between foot and shoe length and width

  2. 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

  3. 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

  4. Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.

    PubMed

    Kopajtich, Robert; Murayama, Kei; Janecke, Andreas R; Haack, Tobias B; Breuer, Maximilian; Knisely, A S; Harting, Inga; Ohashi, Toya; Okazaki, Yasushi; Watanabe, Daisaku; Tokuzawa, Yoshimi; Kotzaeridou, Urania; Kölker, Stefan; Sauer, Sven; Carl, Matthias; Straub, Simon; Entenmann, Andreas; Gizewski, Elke; Feichtinger, René G; Mayr, Johannes A; Lackner, Karoline; Strom, Tim M; Meitinger, Thomas; Müller, Thomas; Ohtake, Akira; Hoffmann, Georg F; Prokisch, Holger; Staufner, Christian

    2016-08-01

    tRNA synthetase deficiencies are a growing group of genetic diseases associated with tissue-specific, mostly neurological, phenotypes. In cattle, cytosolic isoleucyl-tRNA synthetase (IARS) missense mutations cause hereditary weak calf syndrome. Exome sequencing in three unrelated individuals with severe prenatal-onset growth retardation, intellectual disability, and muscular hypotonia revealed biallelic mutations in IARS. Studies in yeast confirmed the pathogenicity of identified mutations. Two of the individuals had infantile hepatopathy with fibrosis and steatosis, leading in one to liver failure in the course of infections. Zinc deficiency was present in all affected individuals and supplementation with zinc showed a beneficial effect on growth in one. PMID:27426735

  5. 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, 0.0426 cm/year, should be applied. PMID:26833426

  6. 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

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

    PubMed Central

    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

  8. Linkage between stature and a region on chromosome 20 and analysis of a candidate gene, bone morphogenetic protein 2

    SciTech Connect

    Thompson, D.B.; Ossowski, V.; Janssen, R.C.; Knowler, W.C.; Bogardus, C.

    1995-12-04

    Sib-pair linkage analysis of the quantitative trait, stature, in over 500 Pima Indians indicates that a genetic determinant of governing stature is located on chromosome 20. Analysis of 10 short tandem repeat polymorphisms localized this linkage to a 3. cM region that includes D20S98 and D20S66. Using all possible sib-pair combinations, linkage was detected to both stature (P = 0.0001) and to leg length (P = 0.001), but not to sitting height. Single-strand conformational polymorphism analysis of exon 3 of the bone morphogenetic protein 2 (BMP2) gene, a candidate gene in this region, in genomic DNA of 20 of the tallest and 20 of the shortest individuals did not show any consistent differences associated with leg length or height. Sequence analysis of the region encoding the mature protein revealed a single nucleotide substitution, a T to G transversion, not detected by single-strand conformational polymorphism (SSCP) analysis. This transversion results in a conservative amino acid substitution of glycine for valine at codon 80 of BMP2. The frequency of this allele was 0.23 in the sample. No significant differences in height were noted in persons carrying either allele. This indicates that this structural alteration in the mature BMP2 protein does not contribute to the differences in stature observed in the Pima Indians, nor is this structural change in the mature protein likely to be responsible for the linkage observed with stature on chromosome 20. 33 refs., 2 figs., 2 tabs.

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. 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-α, within the critical region. These data implicate causative PURA mutations responsible for the severe neurological phenotypes observed in this syndrome. PMID:25439098

  15. Deletion of PREPL, a Gene Encoding a Putative Serine Oligopeptidase, in Patients with Hypotonia-Cystinuria Syndrome

    PubMed Central

    Jaeken, Jaak; Martens, Kevin; François, Inge; Eyskens, François; Lecointre, Claudine; Derua, Rita; Meulemans, Sandra; Slootstra, Jerry W.; Waelkens, Etienne; Zegher, Francis de; Creemers, John W. M.; Matthijs, Gert

    2006-01-01

    In 11 patients with a recessive congenital disorder, which we refer to as “the hypotonia-cystinuria syndrome,” microdeletion of part of the SLC3A1 and PREPL genes on chromosome 2p21 was found. Patients present with generalized hypotonia at birth, nephrolithiasis, growth hormone deficiency, minor facial dysmorphism, and failure to thrive, followed by hyperphagia and rapid weight gain in late childhood. Since loss-of-function mutations in SLC3A1 are known to cause isolated cystinuria type I, and since the expression of the flanking genes, C2orf34 and PPM1B, was normal, the extended phenotype can be attributed to the deletion of PREPL. PREPL is localized in the cytosol and shows homology with prolyl endopeptidase and oligopeptidase B. Substitution of the predicted catalytic residues (Ser470, Asp556, and His601) by alanines resulted in loss of reactivity with a serine hydrolase-specific probe. In sharp contrast to prolyl oligopeptidase and oligopeptidase B, which require both aminoterminal and carboxyterminal sequences for activity, PREPL activity appears to depend only on the carboxyterminal domain. Taken together, these results suggest that PREPL is a novel oligopeptidase, with unique structural and functional characteristics, involved in hypotonia-cystinuria syndrome. PMID:16385448

  16. 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

  17. 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

  18. Exploring the multidimensionality of stature variation in the past through comparisons of archaeological and living populations.

    PubMed

    Vercellotti, Giuseppe; Piperata, Barbara A; Agnew, Amanda M; Wilson, Warren M; Dufour, Darna L; Reina, Julio C; Boano, Rosa; Justus, Hedy M; Larsen, Clark Spencer; Stout, Sam D; Sciulli, Paul W

    2014-10-01

    Adult stature variation is commonly attributed to differential stress-levels during development. However, due to selective mortality and heterogeneous frailty, a population's tall stature may be more indicative of high selective pressures than of positive life conditions. This article examines stature in a biocultural context and draws parallels between bioarchaeological and living populations to explore the multidimensionality of stature variation in the past. This study investigates: 1) stature differences between archaeological populations exposed to low or high stress (inferred from skeletal indicators); 2) similarities in growth retardation patterns between archaeological and living groups; and 3) the apportionment of variance in growth outcomes at the regional level in archaeological and living populations. Anatomical stature estimates were examined in relation to skeletal stress indicators (cribra orbitalia, porotic hyperostosis, linear enamel hypoplasia) in two medieval bioarchaeological populations. Stature and biocultural information were gathered for comparative living samples from South America. Results indicate 1) significant (P < 0.01) differences in stature between groups exposed to different levels of skeletal stress; 2) greater prevalence of stunting among living groups, with similar patterns in socially stratified archaeological and modern groups; and 3) a degree of regional variance in growth outcomes consistent with that observed for highly selected traits. The relationship between early stress and growth is confounded by several factors-including catch-up growth, cultural buffering, and social inequality. The interpretations of early life conditions based on the relationship between stress and stature should be advanced with caution. PMID:24894916

  19. 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

  20. Validity of Carrea's index in stature estimation among two racial populations in India

    PubMed Central

    Anita, P.; Madankumar, P. D.; Sivasamy, Shyam; Balan, I. Nanda

    2016-01-01

    Background: Stature is considered to be one of the “big fours” in forensic anthropology. Though Carrea's Index was published as early as 1920 it has not been validated in any other population apart from the Brazilians. Aim: The present study was conducted to validate Carrea's index in stature estimation in two different racial populations in India. Materials and Methods: The study was carried out in a sample of 100 persons comprising of 25 Aryan males, 25 Aryan females, 25 Dravidian males, and 25 Dravidian females in the age group of 18–30 years. The maximum and minimum stature of all individuals was estimated by Carrea's Index. The actual stature was measured by an anthropometer. The estimated stature was compared with the actual stature and percentage of success was calculated. Results: The Carrea's Index was found to be valid in predicting the stature of 80% Dravidian and 84% Aryan males, the difference being statistically insignificant (Fisher Exact test–0.16; P = 0.99). The stature of 76% of females in both Aryan and Dravidian races was successfully predicted by Carrea's index. Regression analysis showed that the minimum estimated height was more valid in estimating the stature of Aryan and Dravidian population. Conclusion: The validity to use Carrea's index in Aryan and Dravidian population was evaluated and found to be valid. PMID:27555731

  1. 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

  2. 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

  3. 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

  4. Secular trend for stature in adult male Yucatec Maya to 1968.

    PubMed

    McCullough, J M

    1982-06-01

    Statures for 64 adult male Yucatec Maya (18 + years old, sons of campesinos) were measured in 1968 and compared with mean statures presented in results for previous studies. There were no significant changes in mean stature since 1895. If the sample is divided into 5-year age groups, no secular trend is evident. Using osteological information from as early as the Late Preclassic, stature of adult Maya males has decreased 119 mm in a little more than 20 centuries (-0.06 cm/decade). Comparing the results with measurements from other Mesoamerican groups, only one--the Otomí--show evidence of significant secular change. It is possible that modern economic development schemes in Mesoamerica are too recent or ineffective to have had an effect on stature. PMID:7114203

  5. 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…

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

    PubMed Central

    Scofield, Douglas G; Schultz, Stewart T

    2005-01-01

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

  7. 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

  8. Genotype–Phenotype Correlation of Congenital Anomalies in Multiple Congenital Anomalies Hypotonia Seizures Syndrome (MCAHS1)/ PIGN-Related Epilepsy

    PubMed Central

    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. PMID:26394714

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

    PubMed Central

    Fischer, Barbara; Mitteroecker, Philipp

    2015-01-01

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

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

    PubMed

    Fischer, Barbara; Mitteroecker, Philipp

    2015-05-01

    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

  11. 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

  12. 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.

  13. 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

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

    MedlinePlus

    ... 34 Father’s Stature Weight Stature 56789 12 13 14 15 16 17 18 19 20 BMI* AGE (YEARS) cm 95 190 90 185 75 180 ... 30 30 25 20 15 10 lb kg AGE (YEARS) 30 70 60 25 50 20 40 15 30 10 kg lb 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 Published May ...

  16. A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects.

    PubMed

    Beck, David B; Cho, Megan T; Millan, Francisca; Yates, Carin; Hannibal, Mark; O'Connor, Bridget; Shinawi, Marwan; Connolly, Anne M; Waggoner, Darrel; Halbach, Sara; Angle, Brad; Sanders, Victoria; Shen, Yufeng; Retterer, Kyle; Begtrup, Amber; Bai, Renkui; Chung, Wendy K

    2016-07-01

    Exome sequencing is an effective way to identify genetic causes of etiologically heterogeneous conditions such as developmental delay and intellectual disabilities. Using exome sequencing, we have identified four patients with similar phenotypes of developmental delay, intellectual disability, failure to thrive, hypotonia, ataxia, and tooth enamel defects who all have the same de novo R331W missense variant in C-terminal binding protein 1 (CTBP1). CTBP1 is a transcriptional regulator critical for development by coordinating different regulatory pathways. The R331W variant found in these patients is within the C-terminal portion of the PLDLS (Pro-Leu-Asp-Leu-Ser) binding cleft, which is the domain through which CTBP1, interacts with chromatin-modifying enzymes and mediates chromatin-dependent gene repression pathways. This is the first report of mutations within CTBP1 in association with any human disease. PMID:27094857

  17. 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

  18. Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements

    PubMed Central

    Whibley, Annabel; Urquhart, Jill; Dore, Jonathan; Willatt, Lionel; Parkin, Georgina; Gaunt, Lorraine; Black, Graeme; Donnai, Dian; Raymond, F Lucy

    2010-01-01

    Monoamine oxidases (MAO-A and MAO-B) have a key role in the degradation of amine neurotransmitters, such as dopamine, norepinephrine and serotonin. We identified an inherited 240 kb deletion on Xp11.3–p11.4, which encompasses both monoamine oxidase genes but, unlike other published reports, does not affect the adjacent Norrie disease gene (NDP). The brothers who inherited the deletion, and thus have no monoamine oxidase function, presented with severe developmental delay, intermittent hypotonia and stereotypical hand movements. The clinical features accord with published reports of larger microdeletions and selective MAO-A and MAO-B deficiencies in humans and mouse models and suggest considerable functional compensation between MAO-A and MAO-B under normal conditions. PMID:20485326

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

    PubMed Central

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

    2014-01-01

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

  1. 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…

  2. A new syndrome of short stature, joint limitation and muscle hypertrophy.

    PubMed

    Soljak, M A; Aftimos, S; Gluckman, P D

    1983-06-01

    A further case is presented of a new growth deficiency syndrome first reported by Myre et al. in 1981. The major clinical features are mental retardation, growth deficiency, muscular hypertrophy, joint limitation and abnormal skeletal radiography. PMID:6684009

  3. 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.

  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. Solitary median maxillary central incisor, short stature, choanal atresia/midnasal stenosis (SMMCI) syndrome.

    PubMed

    Hall, R K; Bankier, A; Aldred, M J; Kan, K; Lucas, J O; Perks, A G

    1997-12-01

    This article describes a series of 21 consecutive cases, each involving a solitary median maxillary central incisor; the patients were seen in the Department of Dentistry or the Victorian Clinical Genetics Unit, Murdoch Institute, at the Royal Children's Hospital, Melbourne, from 1966 to 1997. The spectrum of anomalies and associated features present in these cases--solitary median maxillary central incisor, choanal atresia, and holoprosencephaly--is described, and the literature related to the features, including genetic studies in these conditions, is reviewed. We relate our findings in these cases to current knowledge of developmental embryology. It is hoped that the findings, together with our interpretation of them, will help to clarify understanding of solitary median maxillary central incisor syndrome. This syndrome was previously considered a simple midline defect of the dental lamina, but it is now recognized as a possible predictor of holoprosencephalies of varying degrees in the proband, in members of the proband's family, and in the family's descendants. PMID:9431535

  6. 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

  7. 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

    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

  8. 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

  9. 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

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

    PubMed

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

    2012-03-01

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

  11. A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia.

    PubMed

    Moskowitz, Abby M; Belnap, Newell; Siniard, Ashley L; Szelinger, Szabolcs; Claasen, Ana M; Richholt, Ryan F; De Both, Matt; Corneveaux, Jason J; Balak, Chris; Piras, Ignazio S; Russell, Megan; Courtright, Amanda L; Rangasamy, Sampath; Ramsey, Keri; Craig, David W; Narayanan, Vinodh; Huentelman, Matt J; Schrauwen, Isabelle

    2016-09-01

    Recently, mutations in the zinc finger MYND-type containing 11 (ZMYND11) gene were identified in patients with autism spectrum disorders, intellectual disability, aggression, and complex neuropsychiatric features, supporting that this gene is implicated in 10p15.3 microdeletion syndrome. We report a novel de novo variant in the ZMYND11 gene (p.Ser421Asn) in a patient with a complex neurodevelopmental phenotype. The patient is a 24-yr-old Caucasian/Filipino female with seizures, global developmental delay, sensorineural hearing loss, hypotonia, dysmorphic features, and other features including a happy disposition and ataxic gait similar to Angelman syndrome. In addition, this patient had uncommon features including eosinophilic esophagitis and multiple, severe allergies not described in similar ZMYND11 cases. This new case further supports the association of ZMYND11 with autistic-like phenotypes and suggests that ZMYND11 should be included in the list of potentially causative candidate genes in cases with complex neurodevelopmental phenotypes. PMID:27626064

  12. A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia

    PubMed Central

    Moskowitz, Abby M.; Belnap, Newell; Siniard, Ashley L.; Szelinger, Szabolcs; Claasen, Ana M.; Richholt, Ryan F.; De Both, Matt; Corneveaux, Jason J.; Balak, Chris; Piras, Ignazio S.; Russell, Megan; Courtright, Amanda L.; Rangasamy, Sampath; Ramsey, Keri; Craig, David W.; Narayanan, Vinodh; Huentelman, Matt J.; Schrauwen, Isabelle

    2016-01-01

    Recently, mutations in the zinc finger MYND-type containing 11 (ZMYND11) gene were identified in patients with autism spectrum disorders, intellectual disability, aggression, and complex neuropsychiatric features, supporting that this gene is implicated in 10p15.3 microdeletion syndrome. We report a novel de novo variant in the ZMYND11 gene (p.Ser421Asn) in a patient with a complex neurodevelopmental phenotype. The patient is a 24-yr-old Caucasian/Filipino female with seizures, global developmental delay, sensorineural hearing loss, hypotonia, dysmorphic features, and other features including a happy disposition and ataxic gait similar to Angelman syndrome. In addition, this patient had uncommon features including eosinophilic esophagitis and multiple, severe allergies not described in similar ZMYND11 cases. This new case further supports the association of ZMYND11 with autistic-like phenotypes and suggests that ZMYND11 should be included in the list of potentially causative candidate genes in cases with complex neurodevelopmental phenotypes. PMID:27626064

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

    PubMed Central

    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.

    2016-01-01

    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

  14. 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

  15. 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

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

    PubMed Central

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

    2014-01-01

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

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

    PubMed

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

    2014-05-01

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

  18. 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

  19. Stature variation in the British American Colonies: French and Indian War records, 1755-1763.

    PubMed

    Steegmann, A T; Haseley, P A

    1988-03-01

    Personnel records kept by military units of American colonials during the French and Indian War (1755-1763) are analyzed for relationships between environmental factors and stature. A robust American economy and direct access to high-quality food were apparently critical to tallness of this white American male sample. American-born men were taller at all ages than those who had migrated from Europe. January temperatures, rural versus urban birth, and ethnicity also showed stature relationships within the American-born group; thermal effects were by far the strongest of the non-nutritional factors. PMID:3284379

  20. Head-body ratio as a visual cue for stature in people and sculptural art.

    PubMed

    Mather, George

    2010-01-01

    Body size is crucial for determining the outcome of competition for resources and mates. Many species use acoustic cues to measure caller body size. Vision is the pre-eminent sense for humans, but visual depth cues are of limited utility in judgments of absolute body size. The reliability of internal body proportion as a potential cue to stature was assessed with a large sample of anthropometric data, and the ratio of head height to body height (HBR) was found to be highly correlated with stature. A psychophysical experiment was carried out to investigate whether the cue actually influences stature judgments. Participants were shown pairs of photographs of human figures in which HBR had been manipulated systematically, and asked to select the figure that appeared taller. Results showed that figures with a relatively small HBR were consistently perceived as taller than figures with a relatively large HBR. Many classical statues such as Michelangelo's David depart from the classical proportions defined in Leonardo's Vitruvian Man. A supplementary experiment showed that perceived stature in classical statues also depends on HBR. Michelangelo's David was created with the HBR of a man 165 cm (5 ft 5 in) tall. PMID:21180359

  1. GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia.

    PubMed

    Niederwieser, A; Blau, N; Wang, M; Joller, P; Atarés, M; Cardesa-Garcia, J

    1984-02-01

    A 4-year-old patient is described with hyperphenylalaninemia, severe retardation in development, severe muscular hypotonia of the trunk and hypertonia of the extremities, convulsions, and frequent episodes of hyperthermia without infections. Urinary excretion of neopterin, biopterin, pterin, isoxanthopterin, dopamine, and serotonin was very low, although the relative proportions of pterins were normal. In lumbar cerebrospinal fluid, homovanillic acid, 5-hydroxyindoleacetic acid, neopterin and biopterin were low. Oral administration of L-erythro tetrahydrobiopterin normalized the elevated serum phenylalanine within 4 h, serum tyrosine was increased briefly and serum alanine and glutamic acid for a longer time. Urinary dopamine and serotonin excretion were also increased. Administration of an equivalent dose of D-erythro tetrahydroneopterin was ineffective and demonstrated that this compound is not a cofactor in vivo and cannot be transformed into an active cofactor. GTP cyclohydrolase I activity was not detectable in liver biopsies from the patient. The presence of an endogenous inhibitor in the patient's liver was excluded. This is the first case of a new variant of hyperphenylalaninemia in which the formation of dihydroneopterin triphosphate and its pterin metabolites in liver is markedly diminished. Normal activities of xanthine oxidase and sulfite oxidase were apparent since uric acid levels were normal and no increase in hypoxanthine, xanthine, and S-sulfocysteine concentrations could be observed in urine. It is concluded that the molybdenum cofactor of these enzymes may not be derived from dihydroneopterin triphosphate in man. Also, since no gross abnormalities in the patient's immune system could be found, it seems unlikely that dihydroneopterin triphosphate metabolites, such as neopterin, participate actively in immunological processes, as postulated by others. See Note added in proof. PMID:6734669

  2. 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

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

    PubMed

    Geissmann, T

    1986-01-01

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

  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. 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

  6. 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

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

    PubMed

    Jee, Soo-Chan; Yun, Myung Hwan

    2015-10-01

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

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

    PubMed Central

    2011-01-01

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

  9. 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

  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. Relation of Stature to Outcomes in Korean Patients Undergoing Primary Percutaneous Coronary Intervention for Acute ST-Elevation Myocardial Infarction (from the INTERSTELLAR Registry).

    PubMed

    Moon, Jeonggeun; Suh, Jon; Oh, Pyung Chun; Lee, Kyounghoon; Park, Hyun Woo; Jang, Ho-Jun; Kim, Tae-Hoon; Park, Sang-Don; Kwon, Sung Woo; Kang, Woong Chol

    2016-07-15

    Although epidemiologic studies have shown the impact of height on occurrence and/or prognosis of cardiovascular diseases, the underlying mechanism is unclear. In addition, the relation in patients with ST-segment elevation myocardial infarction (STEMI) who underwent primary percutaneous coronary intervention (PCI) remains unknown. We sought to assess the influence of height on outcomes of patients with acute STEMI undergoing primary PCI and to provide a pathophysiological explanation. All 1,490 patients with STEMI undergoing primary PCI were analyzed. Major adverse cardiac and cerebrovascular events (MACCE) were defined as all-cause mortality, nonfatal myocardial infarction, nonfatal stroke, and unplanned hospitalization for heart failure (HF). Patients were divided into (1) MACCE (+) versus MACCE (-) and (2) first- to third-tertile groups according to height. MACCE (+) group was shorter than MACCE (-) group (164 ± 8 vs 166 ± 8 cm, p = 0.012). Prognostic impact of short stature was significant in older (≥70 years) male patients even after adjusting for co-morbidities (hazard ratio 0.951, 95% confidence interval 0.912 to 0.991, p = 0.017). The first-tertile group showed the worst MACCE-free survival (p = 0.035), and most cases of MACCE were HF (n, 17 [3%] vs 6 [1%] vs 2 [0%], p = 0.004). On post-PCI echocardiography, left atrial volume and early diastolic mitral velocity to early diastolic mitral annulus velocity ratio showed an inverse relation with height (p <0.001 for all) despite similar left ventricular ejection fraction. In conclusion, short stature is associated with occurrence of HF after primary PCI for STEMI, and its influence is prominent in aged male patients presumably for its correlation with diastolic dysfunction. PMID:27236252

  12. 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…

  13. 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…

  14. 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…

  15. 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…

  16. 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.

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

    PubMed

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

    2014-09-01

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

  18. 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

  19. 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

  20. Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice.

    PubMed

    Balemans, Monique C M; Ansar, Muhammad; Oudakker, Astrid R; van Caam, Arjan P M; Bakker, Brenda; Vitters, Elly L; van der Kraan, Peter M; de Bruijn, Diederik R H; Janssen, Sanne M; Kuipers, Arthur J; Huibers, Manon M H; Maliepaard, Eliza M; Walboomers, X Frank; Benevento, Marco; Nadif Kasri, Nael; Kleefstra, Tjitske; Zhou, Huiqing; Van der Zee, Catharina E E M; van Bokhoven, Hans

    2014-02-15

    Haploinsufficiency of Euchromatin histone methyltransferase 1 (EHMT1), a chromatin modifying enzyme, is the cause of Kleefstra syndrome (KS). KS is an intellectual disability (ID) syndrome, with general developmental delay, hypotonia, and craniofacial dysmorphisms as additional core features. Recent studies have been focused on the role of EHMT1 in learning and memory, linked to the ID phenotype of KS patients. In this study we used the Ehmt1(+/-) mouse model, and investigated whether the core features of KS were mimicked in these mice. When comparing Ehmt1(+/-) mice to wildtype littermates we observed delayed postnatal growth, eye opening, ear opening, and upper incisor eruption, indicating a delayed postnatal development. Furthermore, tests for muscular strength and motor coordination showed features of hypotonia in young Ehmt1(+/-) mice. Lastly, we found that Ehmt1(+/-) mice showed brachycephalic crania, a shorter or bent nose, and hypertelorism, reminiscent of the craniofacial dysmorphisms seen in KS. In addition, gene expression analysis revealed a significant upregulation of the mRNA levels of Runx2 and several other bone tissue related genes in P28 Ehmt1(+/-) mice. Runx2 immunostaining also appeared to be increased. The mRNA upregulation was associated with decreased histone H3 lysine 9 dimethylation (H3K9me2) levels, the epigenetic mark deposited by Ehmt1, in the promoter region of these genes. Together, Ehmt1(+/-) mice indeed recapitulate KS core features and can be used as an animal model for Kleefstra syndrome. The increased expression of bone developmental genes in the Ehmt1(+/-) mice likely contributes to their cranial dysmorphisms and might be explained by diminished Ehmt1-induced H3K9 dimethylation. PMID:24362066

  1. 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

  2. CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities.

    PubMed

    Leduc, Magalie S; Niu, Zhiyv; Bi, Weimin; Zhu, Wenmiao; Miloslavskaya, Irene; Chiang, Theodore; Streff, Haley; Seavitt, John R; Murray, Stephen A; Eng, Christine; Chan, Audrey; Yang, Yaping; Lalani, Seema R

    2016-08-01

    Mutations in CRIPT encoding cysteine-rich PDZ domain-binding protein are rare, and to date have been reported in only two patients with autosomal recessive primordial dwarfism and distinctive facies. Here, we describe a female with biallelic mutations in CRIPT presenting with postnatal growth retardation, global developmental delay, and dysmorphic features including frontal bossing, high forehead, and sparse hair and eyebrows. Additional clinical features included high myopia, admixed hyper- and hypopigmented macules primarily on the face, arms, and legs, and syndactyly of 4-5 toes bilaterally. Using whole exome sequencing (WES) and chromosomal microarray analysis (CMA), we detected a c.8G>A (p.C3Y) missense variant in exon 1 of the CRIPT gene inherited from the mother and a 1,331 bp deletion encompassing exon 1, inherited from the father. The c.8G>A (p.C3Y) missense variant in CRIPT was apparently homozygous in the proband due to the exon 1 deletion. Our findings illustrate the clinical utility of combining WES with copy number variant (CNV) analysis to provide a molecular diagnosis to patients with rare Mendelian disorders. Our findings also illustrate the clinical spectrum of CRIPT related mutations. © 2016 Wiley Periodicals, Inc. PMID:27250922

  3. 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

  4. 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…

  5. 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

  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

  7. Pachygyria, seizures, hypotonia, and growth retardation in a patient with an atypical 1.33Mb inherited microduplication at 22q11.23.

    PubMed

    Chang, Jiazhen; Zhao, Lijuan; Chen, Chen; Peng, Ying; Xia, Yan; Tang, Guizhi; Bai, Ting; Zhang, Yanghui; Ma, Ruiyu; Guo, Ruolan; Mei, Libin; Liang, Desheng; Cao, Qinying; Wu, Lingqian

    2015-09-10

    22q11.2 microduplication syndrome was recently described as a new disorder with variable clinical features that ranged from normal to mental retardation and with congenital defects. According to published reports, majority of patients with 22q11.2 duplications inherit these from unaffected parents rather than by de novo mutations, which is different from most microduplication/microdeletion syndromes. In this study, we report a patient that carried a paternally inherited atypical 1.33Mb duplication at 22q11.23. The proband (or proposita) presented with hypotonia, feeding difficulties, intractable epilepsy, hearing disability, and pachygyria. A pachygyria phenotype had not been previously reported to be associated with a 22q11 microduplication syndrome. Cytogenetic and molecular genetic analyses based on standard G-banding, SNP array, and fluorescence in situ hybridization were performed for the proband and her parents. An atypical 1.33Mb duplication at 22q11.23 was detected in both the proband and her father. Thus, our findings verify the pathogenicity and diverse phenotypes of 22q11.2 microduplication and expand its phenotypic spectrum. PMID:26099517

  8. Recurrent HERV-H-Mediated 3q13.2q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays

    PubMed Central

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

    2015-01-01

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

  9. 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

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

    2010-07-01

    Dystroglycan is a protein which binds directly to two proteins defective in muscular dystrophies (dystrophin and laminin alpha2) 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 approximately 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

  10. 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

  11. 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.

  12. 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

  13. 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

    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

  14. 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

  15. A Procedure for Calculating the Vertical Space Height of the Sacrum When Determining Skeletal Height for Use in the Anatomical Method of Adult Stature Estimation.

    PubMed

    Hayashi, Atsuko; Emanovsky, Paul D; Pietrusewsky, Michael; Holland, Thomas D

    2016-03-01

    Estimating stature from skeletonized remains is one of the essential parameters in the development of a biological profile. A new procedure for determining skeletal height (SKH) incorporating the vertical space height (VSH) from the anterior margin of the sacral promontory to the superior margins of the acetabulae for use in the anatomical method of stature estimation is introduced. Regression equations for stature estimation were generated from measurements of 38 American males of European ancestry from the William M. Bass Donated Skeletal Collection. The modification to the procedure results in a SKH that is highly correlated with stature (r = 0.925-0.948). Stature estimates have low standard errors of the estimate ranging from 21.79 to 25.95 mm, biases from to 0.50 to 0.94 mm, and accuracy rates from 17.71 mm to 19.45 mm. The procedure for determining the VSH, which replaces "S1 height" in traditional anatomical method models, is a key improvement to the method. PMID:27404615

  16. A novel 5q11.2 microdeletion in a child with mild developmental delay and dysmorphic features.

    PubMed

    Fontana, Paolo; Tortora, Cristina; Petillo, Roberta; Falco, Mariateresa; Miniero, Martina; De Brasi, Davide; Pisanti, Maria Antonietta

    2016-09-01

    5q11.2 Deletion is a very rare genomic disorder, and its clinical phenotype has not yet been characterized. This report describes a patient with an 8.6 Mb deletion, showing hypotonia, mild developmental delay, short stature, and distinctive dysmorphic features (frontal bossing, square face, deep-set eyes, prominent columella, long philtrum, thin lips). © 2016 Wiley Periodicals, Inc. PMID:27374896

  17. [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

  18. Short bones

    MedlinePlus

    Short bones in the human body are often cube-like, their length, width, and height are all about the same. Short bones include the carpal bones of the hands and wrist, and the tarsal bones of the feet and ankles.

  19. [Hormonal regulation and hormone therapy in childhood and adolescence. Part 2: Therapeutic problems (tall stature, amenorrhea, delayed puberty, oligomenorrhea, precocious puberty, anorexia nervosa, anisomastia, hypermastia, acne etc)].

    PubMed

    Lauritzen, C

    1979-05-17

    The most important therapeutic problems of female puberty and adolescence are discussed, including high stature, amenorrhoea, oligomenorrhea, pubertas tarda, anovulation, anorexia, anisomastia, hypermastia. Indications for treatment are given and the possibilities for a prophylactic medicine in this age group are stressed. PMID:156144

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

    PubMed

    Smith, Duncan D; Sperry, John S

    2014-12-01

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

  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. Height discordance in monozygotic females is not attributable to discordant inactivation of X-linked stature determining genes.

    PubMed

    Healey, S C; Kirk, K M; Hyland, V J; Munns, C F; Henders, A K; Batch, J A; Heath, A C; Martin, N G; Glass, I A

    2001-02-01

    We tested the hypothesis that X-linked genes determining stature which are subject to skewed or non-random X-inactivation can account for discordance in height in monozygotic female twins. Height discordant female monozygotic adult twins (20 pairs) were identified from the Australian Twin Registry, employing the selection criteria of proven monozygosity and a measured height discordance of at least 5 cm. Differential X-inactivation was examined in genomic DNA extracted from peripheral lymphocytes by estimating differential methylation of alleles at the polymorphic CAG triplet repeat of the Androgen receptor gene (XAR). There were 17/20 MZ pairs heterozygous at this locus and informative for analysis. Of these, 10/17 both had random X-inactivation, 5/17 showed identical X-inactivation patterns of non random inactivation and 2/17 (12%) showed discordant X-inactivation. There was no relationship between inactivation patterns and self-report chorionicity. We conclude that non-random X-inactivation does not appear to be a major contributor to intra-pair height discordance in female MZ twins. PMID:11665320

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

    PubMed Central

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

    2015-01-01

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

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

    ERIC Educational Resources Information Center

    Csapo, Marg

    1991-01-01

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

  5. 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

  6. Surname‐Inferred andean ancestry is associated with child stature and limb lengths at high altitude in Peru, but not at sea level

    PubMed Central

    Wells, Jonathan C.K.; Stanojevic, Sanja; Miranda, J. Jaime; Moore, Lorna G.; Cole, Tim J.; Stock, Jay T.

    2015-01-01

    Abstract Objectives Native Andean ancestry gives partial protection from reduced birthweight at high altitude in the Andes compared with European ancestry. Whether Andean ancestry is also associated with body proportions and greater postnatal body size at altitude is unknown. Therefore, we tested whether a greater proportion of Andean ancestry is associated with stature and body proportions among Peruvian children at high and low altitude. Methods Height, head circumference, head‐trunk height, upper and lower limb lengths, and tibia, ulna, hand and foot lengths, were measured in 133 highland and 169 lowland children aged 6 months to 8.5 years. For highland and lowland groups separately, age‐sex‐adjusted anthropometry z scores were regressed on the number of indigenous parental surnames as a proxy for Andean ancestry, adjusting for potential confounders (maternal age and education, parity, altitude [highlands only]). Results Among highland children, greater Andean ancestry was negatively associated with stature and tibia, ulna, and lower limb lengths, independent of negative associations with greater altitude for these measurements. Relationships were strongest for tibia length: each additional Andean surname or 1,000 m increase at altitude among highland children was associated with 0.18 and 0.65 z score decreases in tibia length, respectively. Anthropometry was not significantly associated with ancestry among lowland children. Conclusions Greater Andean ancestry is associated with shorter stature and limb measurements at high but not low altitude. Gene‐environment interactions between high altitude and Andean ancestry may exacerbate the trade‐off between chest dimensions and stature that was proposed previously, though we could not test this directly. Am. J. Hum. Biol. 27:798–806, 2015. © 2015 The Authors American Journal of Human Biology Published by Wiley Periodicals, Inc. PMID:25960137

  7. Virtual CT morphometry of lower limb long bones for estimation of the sex and stature using postmortem Japanese adult data in forensic identification.

    PubMed

    Hishmat, Asmaa Mohammed; Michiue, Tomomi; Sogawa, Nozomi; Oritani, Shigeki; Ishikawa, Takaki; Fawzy, Irene Atef; Hashem, Mohamed Abdel Mohsen; Maeda, Hitoshi

    2015-09-01

    The application of computed tomography (CT) is useful for the documentation of whole-body anatomical data on routine autopsy, virtual reconstruction of skeletal structure, objective measurements, and reassessment by repetitive analyses. In addition, CT data processing facilitates volumetric and radiographic density analyses. Furthermore, a recently developed automated analysis system markedly improved the performance and accuracy of three-dimensional (3D) reconstruction. The present study investigated virtual CT morphometry of lower limb long bones, including the femur, tibia, fibula, and first metatarsus, to estimate the sex and stature using postmortem CT data of forensic autopsy cases of Japanese over 19 years of age (total n = 259, 150 males and 109 females). Bone mass volumes, lengths, and total CT attenuation values of bilateral femurs, tibias, and fibulas correlated with the stature; however, the mean CT attenuation (HU) values showed age-dependent decreases. Correlations with the stature were similar for the lengths and mass volumes of the femur, tibia, and fibula (r = 0.77-0.85) but were higher for the mass volume of the first metatarsus (r = 0.77 for right and r = 0.58 for left). In addition, the ratio of the bone volume to the length of each bone showed the most significant sex-related differences (males > females with accuracy of 75.8-98.1 %). These findings indicate the usefulness of virtual CT morphometry of individual lower limb long bones, including volumetry, to estimate the sex and stature in identification. PMID:26156452

  8. Assessment of Skeletal Maturation in Concordance to Statural Height and Body Weight in 12-Year-Old Children – A Cross-Sectional Study

    PubMed Central

    Parameswaran, Ratna; Vijayalakshmi, Devaki; Khan, Nayeemullah; Nandakumar, Arani

    2016-01-01

    Introduction To analyse the importance of bodily characteristics of growing children and its correlation towards skeletal maturity. This further aids orthodontists in proper treatment planning. Aim The purpose of this study was to assess the correlation between cervical vertebrae maturation, statural height and body weight as measured in 12 -year-old children. Materials and Methods Lateral cephalograms were taken as a part of treatment records in 94 children along with their statural height and body weight. The Cervical Vertebrae Maturation Index (CVMI) was used to trace the C2, C3 and C4 vertebrae respectively and the data were then correlated to the chart provided by the Indian Council for Medical Research (ICMR). Results The overall sample showed a statistically significant correlation between CVMI and height (p=0.047). Girls showed significant correlation in their mean heights to the CVMI staging (p=0.012) while the boys exhibited a maximal mean height value in Cervical Stage (CS) 5 followed by CS3. There was no significant correlation between weight and CVMI. The mean CVMI stage seen in boys and girls were CS2 and CS3 respectively. Conclusion There exists a definitive correlation between height and CVMI stages in growing children. Girls showed an advanced level of skeletal maturity in comparison to boys. CVMI staging should be used along with statural height and body weight when considering growth modification procedures.

  9. Human cranial vault thickness in a contemporary sample of 1097 autopsy cases: relation to body weight, stature, age, sex and ancestry.

    PubMed

    De Boer, H H Hans; Van der Merwe, A E Lida; Soerdjbalie-Maikoe, V Vidija

    2016-09-01

    The relation between human cranial vault thickness (CVT) and various elements of the physical anthropological biological profile is subject of ongoing discussion. Some results seem to indicate no correlation between CVT and the biological profile of the individual, whereas other results suggest that CVT measurements might be useful for identification purposes. This study assesses the correlation between CVT and body weight, stature, age, sex, and ancestry by reviewing data of 1097 forensic autopsies performed at the Netherlands Forensic Institute (NFI). In subadults (younger than 19 years of age at the time of death), all frontal, temporal, and occipital CVT measurements correlated moderately to strongly with indicators of growth (body weight, stature, and age). Neither sex nor ancestry correlated significantly with cranial thickness. In adults, body weight correlated with all CVT measurements. No meaningful correlation was found between CVT and stature or age. Females showed to have thicker frontal bones, and the occipital region was thicker in the Negroid subsample. All correlation in the adult group was weak, with the distribution of cranial thickness overlapping for a great deal between the groups. Based on these results, it was concluded that CVT generally cannot be used as an indicator for any part of the biological profile. PMID:26914798

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

    PubMed

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

    1994-02-01

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

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

    PubMed

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

    1999-08-01

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

  12. 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

  13. Test of socioeconomic causation of secular trend: stature changes among favored and oppressed South Africans are parallel.

    PubMed

    Henneberg, M; van den Berg, E R

    1990-12-01

    Secular trends in body height, however common, run at different rates and even in opposite directions in various populations. The standard explanation is that direction and tempo of the trend are reflections of changes in the socioeconomic situation. The aim of this work is to test this hypothesis by examining trends in different socioeconomic groups living in the same country. Our observations on affluent South Africans of European extraction (AE) and on Polish medical students are compared with the data on statures of other affluent and poor peoples from the two countries measured at various dates during the 19th and 20th centuries. The trend among native Southern Africans is erratic (Tobias: South African Journal of Medical Science 40:145-164, 1975), but the overall direction is positive with a slow rate (0.24 cm/decade for 72 Negroid male groups and 0.48 cm/d for 28 Khoisan male samples). Magnitude of the trend among adult AE (0.41 cm/d for females, 0.59 for males) does not differ significantly from that among natives. The trend was absent in the data for 10-year-old AE boys and girls. The rate of trend among AE is much lower than that in their countries of origin (mainly Holland and Britain). The trend among AE medical students is markedly weaker than the trend among Polish medical students (1.21 cm/d), who in turn parallel Polish general conscripts (1.24 cm/d). It follows that the explanation of the secular trend as being an ecosensitive response of individuals to changing levels of well-being is insufficient. PMID:2275483

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

    PubMed Central

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

    2012-01-01

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

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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.

  1. Polar bears in the southern Beaufort Sea III: Stature, mass, and cub recruitment in relationship to time and sea ice extent between 1982 and 2006

    USGS Publications Warehouse

    Rode, Karyn D.; Amstrup, Steven C.; Regehr, Eric V.

    2007-01-01

    Changes in individual stature and body mass can affect reproduction and survival and have been shown to be early indicators of changes in status and trends of polar bear populations. We recorded body length, skull size, and mass of polar bears (Ursus maritimus) during capture/recapture studies conducted in the southern Beaufort Sea of Alaska (SB) between 1982 and 2006. We calculated a body condition index (BCI) which reflects trends in mass relative to length. We also recorded the number of dependent young accompanying females in the spring and fall as an indicator of cub recruitment. Previous work suggested stature of some sex and age classes of bears in the SB had changed between early and latter portions of this study but did not investigate trends in or causes of those changes. Here, we investigate whether these measurements changed over time or in relation to sea ice extent. Because our study required bears to be repeatedly immobilized and captured, we tested whether frequency of capture could have affected these measurements. Mass, length, skull size, and BCI of growing males (aged 3-10), mass and skull size of cubs-of-the year, and the number of yearlings per female in the spring and fall were all positively related to the percent of days in which sea ice covered the continental shelf. Skull sizes and/or lengths of adult and subadult males and females decreased over time during the study. Adult body mass was not related to sea ice cover and did not show a trend with time. BCI of adult females exhibited a positive trend over time reflecting a decline in length without a parallel trend in mass. Though cub production increased over time, the number of cubs-of-the-year (COYs) per female in the fall and yearlings per female in the spring declined suggesting reduced cub survival. Bears with prior capture history were either larger or similar in stature and mass to bears captured for the first time, indicating that research activities did not influence trends in

  2. Shortness of Breath

    MedlinePlus

    ... Body & lifestyle changes > Shortness of breath Shortness of breath E-mail to a friend Please fill in ... oxygen your baby gets. Causes of shortness of breath during pregnancy Early pregnancy In the first few ...

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

    PubMed Central

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

    2009-01-01

    We report on a patient with mental retardation, seizures and tall stature with advanced bone age in whom a de novo apparently balanced chromosomal rearrangement 46,XX,t(X;9)(q12;p13.3) was identified. Using array CGH on flow-sorted derivative chromosomes (array painting) and subsequent FISH and qPCR analysis, we mapped and sequenced both breakpoints. The Xq12 breakpoint was located within the gene coding for oligophrenin 1 (OPHN1) whereas the 9p13.3 breakpoint was assigned to a non-coding segment within a gene dense region. Disruption of OPHN1 by the Xq12 breakpoint was considered the major cause of the abnormal phenotype observed in the proband. PMID:17845870

  4. 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

  5. Prader-Labhart-Willi syndrome.

    PubMed

    Anavi, Y; Mintz, S M

    1990-01-01

    Prader-Labhart-Willi Syndrome is a complex, multisystem sporadic disorder which presents during childhood and proceeds into adulthood. The major features include infantile hypotonia, developmental delay, hypogonadism with abnormal sexual maturation, mental retardation and behavior abnormalities, short stature with small hands and feet, massive obesity with diabetes mellitus, dysmorphic facial features, and marked dental caries and enamel hypoplasia. Recently, a deletion of chromosome 15 has been found in a large percentage of these patients, but the exact cause and genetic transmission has not yet been determined. Two cases of Prader-Labhart-Willi Syndrome are presented with emphasis on the differential diagnosis of enamel hypoplasia associated with sexual maturation. PMID:2278477

  6. Beckwith-Wiedemann syndrome in a child with chromosome 18q deletion.

    PubMed Central

    Brewer, C M; Lam, W W; Hayward, C; Grace, E; Maher, E R; FitzPatrick, D R

    1998-01-01

    Molecular genetic investigation of a female infant with Beckwith-Wiedemann syndrome (BWS) showed loss of IGF2 imprinting but no evidence of uniparental disomy. In addition, a deletion of chromosome 18q22.1 was identified in this infant without clinical features of 18q-syndrome (microcephaly, short stature, hypotonia). The association of a chromosome 18 deletion and BWS may be coincidental or may indicate the location of a trans activating regulator element for maintenance of IGF2 imprinting. Images PMID:9507400

  7. 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

  8. 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 ...

  9. Natural short sleeper

    MedlinePlus

    ... Sleep - natural short sleeper Images Natural short sleeper Sleep patterns in the young and aged References Knutson KL, Van Cauter E, Rathouz PJ, et al. Trends in the prevalence of short sleepers in the USA: 1975-2006. Sleep. Update Date 12/2/2014 Updated by: Andrew ...

  10. 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

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

    PubMed

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

    2009-01-01

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

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

    PubMed Central

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

    1997-01-01

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

  13. [Shunt and short circuit].

    PubMed

    Rangel-Abundis, Alberto

    2006-01-01

    Shunt and short circuit are antonyms. In French, the term shunt has been adopted to denote the alternative pathway of blood flow. However, in French, as well as in Spanish, the word short circuit (court-circuit and cortocircuito) is synonymous with shunt, giving rise to a linguistic and scientific inconsistency. Scientific because shunt and short circuit made reference to a phenomenon that occurs in the field of the physics. Because shunt and short circuit are antonyms, it is necessary to clarify that shunt is an alternative pathway of flow from a net of high resistance to a net of low resistance, maintaining the stream. Short circuit is the interruption of the flow, because a high resistance impeaches the flood. This concept is applied to electrical and cardiovascular physiology, as well as to the metabolic pathways. PMID:17257492

  14. 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)

  15. Minimizing Shortness of Breath

    MedlinePlus

    ... Top Doctors in the Nation Departments & Divisions Home Health Insights Stress & Relaxation Breathing and Relaxation Minimizing Shortness of Breath ... Management Assess Your Stress Coping Strategies Identifying ... & Programs Health Insights Doctors & Departments Research & Science Education & Training Make ...

  16. The Short Nose.

    PubMed

    Cone, Jeffrey D; Hobar, P Craig

    2016-01-01

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

  17. Age-related perception of stature, acceptance of therapy, and psychosocial functioning in human growth hormone-treated girls with Turner's syndrome.

    PubMed

    Lagrou, K; Xhrouet-Heinrichs, D; Heinrichs, C; Craen, M; Chanoine, J P; Malvaux, P; Bourguignon, J P

    1998-05-01

    This study evaluated the perception of stature, acceptance of therapy, and psychosocial functioning in relation to age at onset and time on treatment during 2 yr of GH therapy in 31 girls with Turner's syndrome grouped by age (group A: 3.7-5.8 yr, n = 9; group B: 7.2-11.8 yr, n = 13; group C: 12.5-16.4 yr, n = 9). The growth response after 2 yr was significant in the 3 groups when calculated in terms of growth norms for untreated Turner girls (mean increase in height SD score: +1.2, +1.5, and +1.1, respectively). The effect was less marked in terms of growth norms for normal girls, particularly in group B (+0.5 SD score). Height was perceived as a problem by most patients, except in the youngest girls at the start of treatment (group A) and in the majority of the adolescents after 2 yr of GH therapy (group C), without evidence of relation to growth response during therapy. The GH injections were fairly well accepted by all patients, except those younger than 6 yr. In all patients, expected adult height was unrealistic and became more realistic with age, whereas no consistent changes were observed in relation to growth response to GH therapy. The Child Behavior Checklist revealed elevated mean scores at the behavioral subscales of attention problems (group A and B), social problems, withdrawal, and anxiety-depression (most obviously in group B). No significant changes were seen during GH therapy. In group C, an elevated mean social problem score at the Youth Self Report and a low mean social self-esteem score at the Self-Esteem Inventory were observed before therapy and showed a significant improvement during 2 yr of GH treatment. These results, however, might be biased due to an increase in social desirability during therapy. We conclude that the perception of height, acceptance of GH therapy, and psychosocial functioning in girls with Turner's syndrome show important differences between age groups, with only slight changes observed during GH therapy. PMID:9589645

  18. Short crack growth behavior

    SciTech Connect

    Sadananda, K.; Vasudevan, A.K.

    1997-12-01

    The authors have re-evaluated short crack growth behavior using concepts developed recently, and they show that these concepts provide a unified framework that can explain both short and long crack growth behavior without resorting to the crack closure effect. They consider that the behavior of long cracks, including the effects of load ratio, R, is fundamental. they had shown previously that, since fatigue is at least a two-parameter problem in that at least two load parameters are required for an unambiguous description, there are two critical driving forces required simultaneously for fatigue cracks to grow. In extending this analysis to the growth of short cracks, they reject the current notion of the lack of similitude for short cracks and express the similitude as a fundamental postulate that, for a given crack growth mechanism, equal crack tip driving forces result in equal crack growth rates. Short crack growth behavior confirms the concept that two parameters are required to define fatigue; consequently, for fatigue cracks to grow, two thresholds need to be satisfied simultaneously. The authors present examples from the literature to illustrate the concepts discussed.

  19. 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

  20. 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

  1. 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

  2. Short wavelength FELS

    SciTech Connect

    Sheffield, R.L.

    1991-01-01

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

  3. 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)

  4. Body Mass Index, Weight-for-age, and Stature-for-age Indices in Iranian School Children in Relation to Weight and Growth Disorders: A Population-based Survey

    PubMed Central

    Jafari, Sakineh; Fouladgar, Maryam; Naeeni, Marjan Manouchehri; Fakhri, Maryam; Fatemi, Sayed Azim; Heidari, Kamal; Bagheri, Saeed

    2014-01-01

    Background: Present study aimed to evaluate the prevalence of grades of nutritional status comprising underweight, normal weight, overweight, and obesity as well as other measurable anthropometric indicators of body mass index (BMI) in regard to gender, educational level, and living area among students settled in Isfahan province. Methods: This cross-sectional study was conducted on a sample of 4700 individuals (2349 females and 2351 males) being from 9 to 15 years old, while they were students of either primary school or junior high school. Random cluster method was applied in both urban (84%) and rural (16%) areas of Isfahan province. BMI values were measured and then categorized using reference growth charts from the Centers for Disease Control and Prevention (CDC 2000). Weight-for-age and stature-for-age indices were assessed as well in accordance with CDC growth charts. Results: The overall prevalence of underweight, overweight, and obesity was 13.9, 10.4, and 5.7%, respectively. Boys and students of urban areas showed a higher tendency of obesity and overweight in comparison with girls and rural students respectively. Furthermore, rural students had poorer status in both weight-for-age and stature-for-age indices. In addition, educational level was the only statistically efficacious factor. Conclusions: This study and previous ones demonstrated that children and adolescents’ nutritional status, which strongly affect general health status of individuals, should receive more exquisite attention. PMID:26157563

  5. 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.

  6. Dramatizing Short Stories.

    ERIC Educational Resources Information Center

    Zilberwasser, Simona; Dar, Etti; Livny, Michal; Shotts, Carol

    2002-01-01

    Describes a project that dealt with two short stories in a different way. The stories were part of the Oral Bagrut exam for Grade 11 students. The stories were taught in English class and concentrated on theme and vocabulary. (Author/VWL)

  7. 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…

  8. 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

  9. 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. PMID:26463668

  10. Short pulse neutron generator

    DOEpatents

    Elizondo-Decanini, Juan M.

    2016-08-02

    Short pulse neutron generators are described herein. In a general embodiment, the short pulse neutron generator includes a Blumlein structure. The Blumlein structure includes a first conductive plate, a second conductive plate, a third conductive plate, at least one of an inductor or a resistor, a switch, and a dielectric material. The first conductive plate is positioned relative to the second conductive plate such that a gap separates these plates. A vacuum chamber is positioned in the gap, and an ion source is positioned to emit ions in the vacuum chamber. The third conductive plate is electrically grounded, and the switch is operable to electrically connect and disconnect the second conductive plate and the third conductive plate. The at least one of the resistor or the inductor is coupled to the first conductive plate and the second conductive plate.

  11. 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.

  12. Short-term memory

    NASA Astrophysics Data System (ADS)

    Toulouse, G.

    This is a rather bold attempt to bridge the gap between neuron structure and psychological data. We try to answer the question: Is there a relation between the neuronal connectivity in the human cortex (around 5,000) and the short-term memory capacity (7±2)? Our starting point is the Hopfield model (Hopfield 1982), presented in this volume by D.J. Amit.

  13. 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

  14. 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

  15. 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.

  16. What Is a Short Story?

    ERIC Educational Resources Information Center

    Singer, Marilyn

    2000-01-01

    Presents 12 brief answers by editors and authors to the question of what a short story is. Includes a 23-item annotated bibliography of the best new (published between 1997 and 2000) short story collections for young adults. (RS)

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

    PubMed Central

    Wanders, Ronald J. A.; Wijburg, Frits A.

    2010-01-01

    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

  18. A 10-Month-Old With Intermittent Hypotonia and Paralysis.

    PubMed

    Beinvogl, Beate C; Rosman, N Paul; Baumer, Fiona M; Rodan, Lance H; Forster, Catherine S; Kwon, Albert H; Berry, Gerard T

    2016-07-01

    A 10-month-old boy presented with a 1-day history of flaccid quadriplegia and dysconjugate gaze. His history was remarkable for stereotyped episodes of flaccid quadriplegia or hemiplegia, oculomotor abnormalities, and limb or neck posturing, beginning in the first days of life and becoming more frequent and more prolonged over time. The patient was healthy and developmentally normal between episodes. Results of extensive laboratory evaluations, including EEG and brain imaging studies, were negative. The patient's history, diagnostic evaluation, and final diagnosis are reviewed. This case illustrates the importance of a fundamental understanding of neurologic localization in pediatric care and a focused diagnostic approach to an infant with paroxysmal neurologic signs. PMID:27252036

  19. 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.

  20. Short-wave Diathermy

    PubMed Central

    1935-01-01

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

  1. [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

  2. Pediatric Short Bowel Syndrome

    PubMed Central

    Spencer, Ariel U.; Neaga, Andreea; West, Brady; Safran, Jared; Brown, Pamela; Btaiche, Imad; Kuzma-O'Reilly, Barbara; Teitelbaum, Daniel H.

    2005-01-01

    Objective: To determine predictors of survival and of weaning off parenteral nutrition (PN) in pediatric short bowel syndrome (SBS) patients. Summary Background Data: Pediatric SBS carries extensive morbidity and high mortality, but factors believed to predict survival or weaning from PN have been based on limited studies. This study reviews outcomes of a large number of SBS infants and identifies predictors of success. Methods: Multivariate Cox proportional hazards analysis was conducted on 80 pediatric SBS patients. Primary outcome was survival; secondary outcome was ability to wean off PN. Nonsignificant covariates were eliminated. P < 0.05 was considered significant. Results: Over a mean of 5.1 years of follow-up, survival was 58 of 80 (72.5%) and 51 weaned off PN (63.8%). Cholestasis (conjugated bilirubin ≥2.5 mg/dL) was the strongest predictor of mortality (relative risk [RR] 22.7, P = 0.005). Although absolute small bowel length was only slightly predictive, percentage of normal bowel length (for a given infant's gestational age) was strongly predictive of mortality (if <10% of normal length, RR of death was 5.7, P = 0.003) and of weaning PN (if ≥10% of normal, RR of weaning PN was 11.8, P = 0.001). Presence of the ileocecal valve (ICV) also strongly predicted weaning PN (RR 3.9, P < 0.0005); however, ICV was not predictive of survival. Conclusions: Cholestasis and age-adjusted small bowel length are the major predictors of mortality in pediatric SBS. Age-adjusted small bowel length and ICV are the major predictors of weaning from PN. These data permit better prediction of outcomes of pediatric SBS, which may help to direct future management of these challenging patients. PMID:16135926

  3. 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

  4. The effect of short-term Swiss ball training on core stability and running economy.

    PubMed

    Stanton, Robert; Reaburn, Peter R; Humphries, Brendan

    2004-08-01

    The purpose of this study was to investigate the effect of a short-term Swiss ball training on core stability and running economy. Eighteen young male athletes (15.5 +/- 1.4 years; 62.5 +/- 4.7 kg; sigma9 skinfolds 78.9 +/- 28.2 mm; VO2max 55.3 +/- 5.7 ml.kg(-1).min(-1)) were divided into a control (n = 10) and experimental (n = 8) groups. Athletes were assessed before and after the training program for stature, body mass, core stability, electromyographic activity of the abdominal and back muscles, treadmill VO2max, running economy, and running posture. The experimental group performed 2 Swiss ball training sessions per week for 6 weeks. Data analysis revealed a significant effect of Swiss ball training on core stability in the experimental group (p < 0.05). No significant differences were observed for myoelectric activity of the abdominal and back muscles, treadmill VO2max, running economy, or running posture in either group. It appears Swiss ball training may positively affect core stability without concomitant improvements in physical performance in young athletes. Specificity of exercise selection should be considered. PMID:15320664

  5. 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…

  6. 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

  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. Severe osteogenesis imperfecta Type-III and its challenging treatment in newborn and preschool children. A systematic review.

    PubMed

    Sinikumpu, Juha-Jaakko; Ojaniemi, Marja; Lehenkari, Petri; Serlo, Willy

    2015-08-01

    Osteogenesis imperfecta (OI) is a group of genetic disorders, of which Type III is the most severe among survivors. The disease is characterised in particular by bone fragility, decreased bone mass and increased incidence of fractures. Other usual findings are muscle hypotonia, joint hypermobility and short stature. Fractures and weak bones may consequently cause limb and spinal deformity and chronic physical disability. Bisphosphonates have revolutionised the treatment of newborn children with severe OI type III. Surgery is still needed in most patients due to high frequency of the fractures. In this systematic review we describe the present state-of-art in treating the most severe type of OI in newborn and preschool children with their bone fractures. PMID:25943292

  9. 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

  10. 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.

  11. Intentionally Short Range Communications (ISRC)

    NASA Astrophysics Data System (ADS)

    Yen, J.; Poirier, P.; Obrien, M. E.; Gibeson, L.

    1993-05-01

    This document details the feasibility studies conducted for the Intentionally Short Range Communications (ISRC) project. The short-range limitation arises from the need for low probability of intercept (LPI), low probability of detection (LPD) communication links. The detection of an undecipherable transmission would still provide an enemy with information regarding transmitter location. The technologies being studied are ultraviolet (UV) lamps, UV lasers, infrared (IR) lasers, millimeter waves (MMW), and direct sequence spread spectrum.

  12. Long-term impact of infantile short bowel syndrome on nutritional status and growth.

    PubMed

    Olieman, Joanne F; Penning, Corine; Spoel, Marjolein; Ijsselstijn, Hanneke; van den Hoonaard, Thelma L; Escher, Johanna C; Bax, Nikolaas M A; Tibboel, Dick

    2012-05-01

    Short-term bowel adaptation has been documented, but data on long-term effects are scarce. The aim of the present study was to evaluate the long-term consequences of infantile short bowel syndrome (SBS). A cross-sectional assessment (2005-7) of growth, nutritional status, defecation pattern and health status in individuals with a history of infantile SBS, born between 1975 and 2002, were performed. Data were compared with reference values of healthy controls and presented as means and standard deviations or median and ranges. A total of forty subjects (sixteen male and twenty-four female; mean age 14·8 (SD 6·8) years) had received parenteral nutrition during a median of 110 (range 43-2345) d, following small bowel resection. The mean standard deviation scores (SDS) for weight for height and target height (TH) of the children were normal; mean SDS for height for age was - 0·9 (SD 1·3). The median BMI adults was 19·9 (range 17-26) kg/m2; mean SDS for height for age was - 1·0 (range - 2·5 to 1·5). Height in general was significantly shorter than TH, and 53 % of children and 78 % of adults were below TH range. Most subjects had normal body fat percentage (%BF). SDS for total body bone mineral density were generally normal. The SDS for bone mineral content (BMC) of the children were - 1·0 (SD 1·1). Mean energy intake was 91 % of the estimated average requirements. The frequencies of defecation and bowel complaints of the subjects were significantly higher than in healthy controls. In conclusion, infantile SBS results in shorter stature than was expected from their calculated TH. BMC was lower than reference values, but the subjects had normal weight for height and %BF. PMID:21917192

  13. 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.

  14. Magnet Coil Shorted Turn Detector

    SciTech Connect

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

    1994-03-01

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

  15. [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

  16. Long Swarms and Short Swarms

    NASA Astrophysics Data System (ADS)

    McNutt, S. R.

    2011-12-01

    Many earthquake swarms at volcanoes last several months, then have a sharp uptick in rate in the hours before eruption. Examples include 2006 Augustine, 8.5 months then 10 hours; 1992 Spurr, 10 months then 4 hours; 1994 Rabaul, ~1 year then 27 hours; 2008 Kasatochi, 6 weeks then 2 days; and 2011 Puyuehue Cordon Caulle, 5 weeks then 2 days. For the well studied Augustine case, broadband data showed that very long period (VLP) energy accompanied 221 of 722 located earthquakes in the 10 hours before the first explosive eruption on 11 January 2006. This was revealed by low-pass filtering and the period of the VLP signal was 50 sec. The Augustine broadband stations were campaign instruments at distances of 2-3 km from the vent. No similar VLP energy has been found in events during the 8.5 month long swarm. Okmok volcano had a short swarm only lasting 5 hours prior to its 12 July 2008 eruption. Low-pass filtering of data from broadband station OKSO, 10 km from the vent, showed that 23 of 42 located events had VLP energy with a period of 30-40 sec. Events from Kasatochi volcano were scanned on station ATKA. Here the broadband station is much farther away at 88 km but the earthquakes in the short swarm 7 August 2008 were much larger with many M>3 events. The station suffered data gaps so only a few hours of data were scanned but numerous events were observed with VLP energy starting just after the P phase. Low-pass filtering showed VLP energy with a period of 10-12 sec. No VLP energy has been found in events of the preceding 6 week long swarm. These observations at three different volcanoes suggest that the short swarms represent a different process than the long swarms. The long swarms likely reflect pressure increases in the surrounding country rock caused by increasing magma pressure. The short swarms in contrast, appear to represent discrete pulses of magma injection at shallow depths. For all three volcanoes the earthquakes looked like typical volcano-tectonic (VT

  17. 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

  18. Beware Postpartum Shortness of Breath.

    PubMed

    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

  19. 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.

  20. A short story of the short QT syndrome.

    PubMed

    Maluli, Hayan Al; Meshkov, Arnold B

    2013-01-01

    Short QT syndrome is a recently recognized cause of cardiac rhythm disorders, including sudden cardiac death. Although the syndrome is rare, its potential lethality justifies routinely screening the electrocardiograms of patients with syncope or unexplained atrial or ventricular arrhythmias to look for this diagnosis. This review discusses recent advances in the understanding of the pathogenesis of this syndrome and outlines some of the challenges in establishing the diagnosis. PMID:23288944

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

    PubMed

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

    2015-11-01

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

  2. An unusual case of adolescent type 2 diabetes mellitus: Prader-Willi syndrome.

    PubMed

    Basheer, Riyas; Jalal, Muhammed Jasim Abdul; Gomez, Ramesh

    2016-01-01

    Prader-Willi syndrome (PWS) is a complex genetic disorder, characterized by neonatal hypotonia, developmental delay, short stature, childhood obesity, hypogonadism, and characteristic facial features. Here we report a 21-year-old male who presented with uncontrolled glycemic status. He was diagnosed to have diabetes mellitus at the age of 15 with osmotic symptoms - polyuria, polydipsia, and polyphagia. In the early period, after diagnosis, his blood sugars were reasonably controlled with oral hypoglycemic agents. However, a year back, he was switched onto insulin therapy due to secondary OHA failure. On examination, his body mass index was 36 kg/m(2). He had bilateral gynecomastia, decreased biparietal diameter, almond shaped eyes with esotropia. He had hypogonadism and also had mild cognitive impairment. He did not have any proximal myopathy or other focal neurological deficits. Hormonal evaluation showed low testosterone and inappropriately normal fluorescence in situ hybridization suggestive of central hypogonadism. With fetal and neonatal hypotonia, delayed developmental milestones, hypogonadism, and early onset diabetes, he fulfilled the clinical criteria for the diagnosis of PWS. Multidisciplinary approach of clinicians together with family and social support are essential to bring out the optimal outcome for such syndromic cases. PMID:27453871

  3. Authority Grab Eroding Stature of State Boards

    ERIC Educational Resources Information Center

    McNeil, Michele

    2008-01-01

    This article reports on the eroding power of state school boards in the U.S. as lawmakers and governors are seeking to expand their authority over K-12 education and, in some cases, reverse education policy set in motion by elected or appointed panels. This year alone, state boards in Florida, Ohio, and Vermont are targets of legislation that…

  4. Diffusion in a short base

    NASA Astrophysics Data System (ADS)

    Hansen, Ole

    1994-09-01

    Based on the solution of the Boltzmann transport equation for a homogeneous base transistor [A.A. Grinberg and S. Luryi, Solid-St. Electron, 35, 1299 (1992)] a very instructive model of carrier transport in a short base transistor is developed. Essential to the above is a replacement of the Schottky boundary conditions. Using modified boundary conditions to the diffusion equation, the transport current density in a homogeneous base is predicted, to an accuracy within ±3%, regardless of the base width, covering the whole range from the diffusion controlled regime to the thermionic regime. Based on the modified boundary conditions a corrected Moll-Ross-Kroemer relation valid for a very short non-homogeneous base is derived. Correspondingly, an expression for the base transit time is derived.

  5. 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

  6. Stretching short DNAs in electrolytes.

    PubMed

    Wang, Jizeng; Fan, Xiaojun; Gao, Huajian

    2006-03-01

    This paper is aimed at a combined theoretical and numerical study of the force-extension relation of a short DNA molecule stretched in an electrolyte. A theoretical formula based on a recent discrete wormlike chain (WLC) model of Kierfeld et al. (Eur Phys. J. E, Vol. 14, pp.17-34, 2004) and the classical OSF mean-field theory on electrostatic stiffening of a charged polymer is numerically verified by a set of Brownian dynamics simulations based on a generalized bead-rod (GBR) model incorporating long-ranged electrostatic interactions via the Debye-Hueckel potential (DH). The analysis indicates that the stretching of a short DNA can be well described as a WLC with a constant effective persistent length. This contrasts the behavior of long DNA chains that are known to exhibit variable persistent lengths depending on the ion concentration levels and force magnitudes. PMID:16711068

  7. 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.

  8. 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.

  9. The short-bowel syndrome.

    PubMed

    Nightingale, J M

    1995-06-01

    Patients with a short bowel have usually had a bowel resection for Crohn's disease. Two types of short-bowel patient can be distinguished: those with a jejunostomy and those with their jejunum anastomosed to a functioning colon. Both types of patient have problems with macronutrient absorption, although those with a colon experience fewer problems because some energy from unabsorbed carbohydrate is salvaged in the colon. Patients with a jejunostomy have problems with large stomal losses of water, sodium and magnesium, whereas those with a jejuno-colic anastomosis rarely have problems with water and electrolyte absorption. Patients with a jejunostomy 100-200 cm from the duodeno-jejunal flexure ('absorbers') usually absorb more from the diet than they pass through the stoma and therefore require oral electrolyte or nutrient supplements. Those with a residual jejunal length of less than 100 cm usually secrete more from the stoma than they take in orally ('secretors') and therefore require long-term parenteral fluid or nutrient supplements. A high output resulting from a jejunostomy is treated by reducing the oral intake of hypotonic fluid, administering a sipped glucose-saline solution and, often, by giving drugs that reduce intestinal motility (most effective in absorbers) or gastrointestinal secretions (most effective in secretors). Gallstones are common both in short-bowel patients with and in those without a colon (45%), and calcium oxalate renal stones occur in the former (25%). However, it is now possible to provide adequate nutrition and fluid supplements for most patients with a short bowel, and the prospects for the rehabilitation of such patients are good. PMID:7552632

  10. 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

  11. Orogeny can be very short.

    PubMed

    Dewey, John F

    2005-10-25

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

  12. 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.

  13. Short Range Correlations in Nuclei

    SciTech Connect

    L. B. Weinstein

    2006-11-01

    Short range correlations (SRC) are an extremely important part of nuclear structure. They are responsible for the high momentum part of the nuclear wavefunction. Instantaneous densities can significantly exceed the average neutron star density. Recent (e,e[prime]) measurements at Jefferson Lab have shown that SRC are universal in nuclei from deuterium to gold, that the probability of two-nucleon SRC is 5-25%, and that the probability of three-nucleon SRC is less than 1%. Recent (e,e[prime]pn) measurements have measured the SRC probabilities as a function of proton momentum and have measured the joint NN momentum distributions.

  14. 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.

  15. 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.

  16. 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.

  17. 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.

  18. Shapeable short circuit resistant capacitor

    DOEpatents

    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.

  19. Electronic cigarettes: a short review.

    PubMed

    Bertholon, J F; Becquemin, M H; Annesi-Maesano, I; Dautzenberg, B

    2013-01-01

    Marketed since 2004 as an alternative to nicotine delivery and advertised as a valid means to smoking cessation, the electronic (e)-cigarette has been the subject of much controversy but very little experimental study. This review provides a brief summary of the current knowledge of this product. Propylene glycol and glycerol, the main ingredients of the fluid that is vaporized, have proved to be harmless in the fog machines of the entertainment industry. However, in the case of the e-cigarette fluid, the composition is not properly labeled: additives like nicotine and flavors vary between and within brands and contamination with various chemicals has been detected. The short-term toxicity seems low, but the long-term toxicity is unknown. The usefulness of the e-cigarette in smoking cessation has still to be clinically established. PMID:24080743

  20. 46 CFR 15.725 - Sailing short.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

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

  1. 46 CFR 15.725 - Sailing short.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

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

  2. 46 CFR 15.725 - Sailing short.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

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

  3. 46 CFR 15.725 - Sailing short.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

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

  4. 46 CFR 15.725 - Sailing short.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

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

  5. 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.

  6. 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.

  7. 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.

  8. MRI Biosensors: A Short Primer

    PubMed Central

    Louie, Angelique

    2013-01-01

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

  9. Benchmarking short sequence mapping tools

    PubMed Central

    2013-01-01

    Background The development of next-generation sequencing instruments has led to the generation of millions of short sequences in a single run. The process of aligning these reads to a reference genome is time consuming and demands the development of fast and accurate alignment tools. However, the current proposed tools make different compromises between the accuracy and the speed of mapping. Moreover, many important aspects are overlooked while comparing the performance of a newly developed tool to the state of the art. Therefore, there is a need for an objective evaluation method that covers all the aspects. In this work, we introduce a benchmarking suite to extensively analyze sequencing tools with respect to various aspects and provide an objective comparison. Results We applied our benchmarking tests on 9 well known mapping tools, namely, Bowtie, Bowtie2, BWA, SOAP2, MAQ, RMAP, GSNAP, Novoalign, and mrsFAST (mrFAST) using synthetic data and real RNA-Seq data. MAQ and RMAP are based on building hash tables for the reads, whereas the remaining tools are based on indexing the reference genome. The benchmarking tests reveal the strengths and weaknesses of each tool. The results show that no single tool outperforms all others in all metrics. However, Bowtie maintained the best throughput for most of the tests while BWA performed better for longer read lengths. The benchmarking tests are not restricted to the mentioned tools and can be further applied to others. Conclusion The mapping process is still a hard problem that is affected by many factors. In this work, we provided a benchmarking suite that reveals and evaluates the different factors affecting the mapping process. Still, there is no tool that outperforms all of the others in all the tests. Therefore, the end user should clearly specify his needs in order to choose the tool that provides the best results. PMID:23758764

  10. Short-lived Supershear Rupture

    NASA Astrophysics Data System (ADS)

    Fukuyama, E.; Xu, S.; Yamashita, F.; Mizoguchi, K.; Takizawa, S.; Kawakata, H.

    2015-12-01

    Fukuyama and Olsen (2002) computed the supershear rupture initiation, propagation and termination process due to a passage of high stress drop area (called asperity) using a boundary integral equation method. They found that supershear rupture continued to propagate after the passage through high stress drop area but it died after a certain propagation distance, which depends on the elastic energy released at the high stress drop area. Here, we could reproduce a similar phenomenon in the laboratory. We conducted large-scale biaxial friction experiments using a pair of meter-scaled metagabbro rock specimens (VP=6.9km/s, VS=3.6km/s) at the National Research institute for Earth Science and Disaster Prevention (NIED). We observed several stick slip rupture events that initiated close to an asperity and immediately became supershear ruptures. But after propagating certain distance they died out and co-existing subshear ruptures became prominent. If we look into details, during the supershear rupture, we could see a sequence of rupture acceleration, its short rest and re-acceleration. This feature reminds us of a sequential breakage of small high stress patches as predicted by Fukuyama and Madariaga (2000). These observations might be interpreted under a concept of energy balance where the energy transmission from strain energy released by the asperity to fracture energy consumed at the crack tip was not instantaneously balanced in space. This could be related to the fact that earthquake rupture velocity is rather smooth reported from the finite fault analysis of large earthquakes with seismic waveforms. References Fukuyama, E. and R. Madariaga (2000) Dynamic propagation and interaction of a rupture front on a planar fault, PAGEOPH, 257, 1959-1979. Fukuyama, E. and K.B. Olsen (2002) A condition for super-shear rupture propagation in a heterogeneous stress field, PAGEOPH, 159, 2047-2056.

  11. Short GRB Prompt and Afterglow Correlations

    NASA Technical Reports Server (NTRS)

    Gehrels, Neil

    2007-01-01

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

  12. 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

  13. Short Tandem Repeat DNA Internet Database

    National Institute of Standards and Technology Data Gateway

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

  14. 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

  15. Short Interval Leaf Movements of Cotton 12

    PubMed Central

    Miller, Charles S.

    1975-01-01

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

  16. 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…

  17. 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…

  18. 18 CFR 415.1 - Short title.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 18 Conservation of Power and Water Resources 2 2010-04-01 2010-04-01 false Short title. 415.1 Section 415.1 Conservation of Power and Water Resources DELAWARE RIVER BASIN COMMISSION ADMINISTRATIVE MANUAL BASIN REGULATIONS-FLOOD PLAIN REGULATIONS Generally § 415.1 Short title. This part shall be...

  19. The Short Circuit Model of Reading.

    ERIC Educational Resources Information Center

    Lueers, Nancy M.

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

  20. Thoughts on Selecting a Short Story Anthology.

    ERIC Educational Resources Information Center

    Logsdon, Loren

    2003-01-01

    Shares with beginning teachers advice about choosing a short story anthology and shows how a text can shape an instructor's approach to teaching short fiction. Discusses three main considerations: the students; the teacher; and the text. Identifies the author's favorite anthology and outlines nine reasons why it is a favorite. Lists five…

  1. 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...

  2. 31 CFR 505.01 - Short title.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 31 Money and Finance: Treasury 3 2010-07-01 2010-07-01 false Short title. 505.01 Section 505.01 Money and Finance: Treasury Regulations Relating to Money and Finance (Continued) OFFICE OF FOREIGN... CERTAIN MERCHANDISE BETWEEN FOREIGN COUNTRIES § 505.01 Short title. The regulations in this part may...

  3. 33 CFR 401.1 - Short title.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 33 Navigation and Navigable Waters 3 2011-07-01 2011-07-01 false Short title. 401.1 Section 401.1 Navigation and Navigable Waters SAINT LAWRENCE SEAWAY DEVELOPMENT CORPORATION, DEPARTMENT OF TRANSPORTATION SEAWAY REGULATIONS AND RULES Regulations § 401.1 Short title. These regulations may be cited as...

  4. 33 CFR 401.1 - Short title.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 33 Navigation and Navigable Waters 3 2010-07-01 2010-07-01 false Short title. 401.1 Section 401.1 Navigation and Navigable Waters SAINT LAWRENCE SEAWAY DEVELOPMENT CORPORATION, DEPARTMENT OF TRANSPORTATION SEAWAY REGULATIONS AND RULES Regulations § 401.1 Short title. These regulations may be cited as...

  5. How short is short? Optimum source–detector distance for short-separation channels in functional near-infrared spectroscopy

    PubMed Central

    Brigadoi, Sabrina; Cooper, Robert J.

    2015-01-01

    Abstract. In recent years, it has been demonstrated that using functional near-infrared spectroscopy (fNIRS) channels with short separations to explicitly sample extra-cerebral tissues can provide a significant improvement in the accuracy and reliability of fNIRS measurements. The aim of these short-separation channels is to measure the same superficial hemodynamics observed by standard fNIRS channels while also being insensitive to the brain. We use Monte Carlo simulations of photon transport in anatomically informed multilayer models to determine the optimum source–detector distance for short-separation channels in adult and newborn populations. We present a look-up plot that provides (for an acceptable value of short-separation channel brain sensitivity relative to standard channel brain sensitivity) the optimum short-separation distance. Though values vary across the scalp, when the acceptable ratio of the short-separation channel brain sensitivity to standard channel brain sensitivity is set at 5%, the optimum short-separation distance is 8.4 mm in the typical adult and 2.15 mm in the term-age infant. PMID:26158009

  6. 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

  7. Short-Distance Structure of Nuclei

    SciTech Connect

    Douglas Higinbotham, Eliazer Piasetzky, Stephen Wood

    2011-06-01

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

  8. Electrochemical microstructuring with short voltage pulses.

    PubMed

    Schuster, Rolf

    2007-01-01

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

  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 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)

  11. 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

  12. Shortness of Breath in Infants and Children

    MedlinePlus

    ... object? Yes Any small object can block an airway and cause shortness of breath or CHOKING. Take ... remove the object). If necessary, carefully clear the airway with a sweeping motion of your finger. If ...

  13. Genetics Home Reference: short QT syndrome

    MedlinePlus

    ... Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common in particular ethnic groups? Genetic Changes Mutations in the KCNH2 , KCNJ2 , and KCNQ1 genes can cause short QT syndrome . These ...

  14. Long-short fiber reinforced thermoplastics

    SciTech Connect

    Gore, C.R.; Cuff, G.; Cianelli, D.A.; Travis, J.E.

    1986-01-01

    This paper presents information on a new family of fiber-reinforced thermoplastic compounds developed by ICI PLC and now produced by LNP under the trade mark ''Verton.'' Production is by a pultrusion process, rather than by the usual compounding extruder, which enables a high level of impregnation to be achieved without damaging the fibers. The result in molded parts is a 0.24-0.40 inch (6-10 mm) typical fiber length versus 0.008-0.016 inches (0.2-0.4 mm) for conventional short fiber products. Consequently, this enables fabricators to achieve typically a 10 to 20-fold increase in average fiber length in the finished component. These long-short fiber reinforced compounds exhibit substantial property improvements over short fiber system. Processing conditions are similar to corresponding short fiber compounds.

  15. Microbial production of short chain diols.

    PubMed

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

    2014-01-01

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

  16. Short winters threaten temperate fish populations

    NASA Astrophysics Data System (ADS)

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

    2015-07-01

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

  17. Intentionally Short-Range Communications (ISRC)

    NASA Astrophysics Data System (ADS)

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

    1994-02-01

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

  18. Injuries in short track asphalt racing.

    PubMed

    Busby, J D

    1978-10-01

    Stock car racing is a popular activity. Although spectators are seldom injured, drivers at short asphalt tracks often sustain minor injuries. The neck and the knee are the most commonly injured areas. Rigid safety requirements are essential and help to prevent serious injuries. Severe injuries occur on an average of once a year, but no fatalities have been recorded at one short track that has been studied for a six-year period. PMID:707264

  19. Observations of short gamma-ray bursts.

    PubMed

    Fox, Derek B; Roming, Peter W A

    2007-05-15

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

  20. Crystallizing short-read assemblies around seeds

    PubMed Central

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

    2009-01-01

    Background New short-read sequencing technologies produce enormous volumes of 25–30 base paired-end reads. The resulting reads have vastly different characteristics than produced by Sanger sequencing, and require different approaches than the previous generation of sequence assemblers. In this paper, we present a short-read de novo assembler particularly targeted at the new ABI SOLiD sequencing technology. Results This paper presents what we believe to be the first de novo sequence assembly results on real data from the emerging SOLiD platform, introduced by Applied Biosystems. Our assembler SHORTY augments short-paired reads using a trivially small number (5 – 10) of seeds of length 300 – 500 bp. These seeds enable us to produce significant assemblies using short-read coverage no more than 100×, which can be obtained in a single run of these high-capacity sequencers. SHORTY exploits two ideas which we believe to be of interest to the short-read assembly community: (1) using single seed reads to crystallize assemblies, and (2) estimating intercontig distances accurately from multiple spanning paired-end reads. Conclusion We demonstrate effective assemblies (N50 contig sizes ~40 kb) of three different bacterial species using simulated SOLiD data. Sequencing artifacts limit our performance on real data, however our results on this data are substantially better than those achieved by competing assemblers. PMID:19208115

  1. 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.

  2. Short dental implants: a systematic review.

    PubMed

    Annibali, S; Cristalli, M P; Dell'Aquila, D; Bignozzi, I; La Monaca, G; Pilloni, A

    2012-01-01

    Growing evidence has suggested the utility of short dental implants for oral reconstructive procedures in clinical situations of limited vertical bone height. The aim of this review was to systematically evaluate clinical studies of implants < 10 mm in length, to determine short implant-supported prosthesis success in the atrophic jaw. Implant survival, incidence of biological and biomechanical complications, and radiographic peri-implant marginal bone loss were evaluated. Screening of eligible studies, quality assessment, and data extraction were conducted by two reviewers independently. Meta-analyses were performed by the pooling of survival data by implant surface, surgical technique, implant location, type of edentulism, and prosthetic restoration. Two randomized controlled trials and 14 observational studies were selected and analyzed for data extraction. In total, 6193 short-implants were investigated from 3848 participants. The observational period was 3.2 ± 1.7 yrs (mean ± SD). The cumulative survival rate (CSR) was 99.1% (95%CI: 98.8-99.4). The biological success rate was 98.8% (95%CI: 97.8-99.8), and the biomechanical success rate was 99.9% (95%CI: 99.4-100.0). A higher CSR was reported for rough-surfaced implants. The provision of short implant-supported prostheses in patients with atrophic alveolar ridges appears to be a successful treatment option in the short term; however, more scientific evidence is needed for the long term. PMID:22034499

  3. The short stem: promises and pitfalls.

    PubMed

    Stulberg, S D; Patel, R M

    2013-11-01

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

  4. On Short-Perihelion Meteor Streams

    NASA Astrophysics Data System (ADS)

    Terentjeva, Alexandra; Bakanas, Elena; Barabanov, Sergey

    2013-02-01

    Research was conducted concerning the relation of short-perihelion meteor streams with comets and asteroids. But the origin of meteor streams with small perihelion distance (of the Arietid and Geminid types) has always represented a special problem for obvious reasons. Over four hundred meteor and fireball streams (by optical and TV-observations) contained 20 streams of perihelion distance q ≤ 0.26 AU. The research shows that 8 of 20 streams displayed a relation with small bodies. No relation was found either with comets or asteroids for the remaining 12 streams. Short-period streams may be formed on quasiparabolic comet orbits with small q in the perihelion area as well. In particular, SOHO comets may be a rich source both of small and large meteor bodies, forming short-perihelion meteor streams among others.

  5. The quest for short GRB radio afterglows

    NASA Astrophysics Data System (ADS)

    Burlon, Davide; Gaensler, Bryan; Murphy, Tara; Hancock, Paul; Bell, Martin; Bannister, Keith; Greiner, Jochen; Klose, Sylvio; Ghirlanda, Giancarlo

    2014-10-01

    Short γ-ray bursts (SGRBs) are the most elusive among GRBs with just a few of them having being studied pan- chromatically. Only three SGRBs have been detected in the radio band in the last 14 years. Radio observations of short GRBs should provide fundamental parameters of the physical process acting in these sources and on the nature of their progenitors. The detection of even a few more short GRBs in the radio band could constrain their true energetics, their radiative efficiency and the density of the environment where they happen (with immediate implications on the nature of their progenitors). The proposed joint radio-optical observations, will allow us for the first time to probe the hydrodynamics of the explosion and the radiation mechanism. We were graded 3.8 for two semesters, but the NAPA was not triggered.

  6. Short-term energy outlook: Methodology

    NASA Astrophysics Data System (ADS)

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

    1981-05-01

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

  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. Extremely short pulses via resonantly induced transparency

    NASA Astrophysics Data System (ADS)

    Radeonychev, Y. V.; Polovinkin, V. A.; Kocharovskaya, O.

    2011-07-01

    We study a novel method to produce extremely short pulses of radiation in a resonant medium via induced transparency by means of adiabatic periodic modulation of atomic transition frequencies by far-off-resonant laser field, which causes linear Stark splitting of atomic energy levels resulting in partial transparency of an optically deep medium and drastic spectral modification of an incident resonant radiation. We find the regimes where the output spectrum corresponds to extremely short pulses and discuss several possible experimental realizations of generation of attosecond pulses in Li2+ ions and femtosecond pulses in atomic hydrogen with commercially available facilities.

  9. 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).

  10. Undulators for short wavelength FEL amplifiers

    SciTech Connect

    Schlueter, R.

    1994-08-01

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

  11. Solar irradiance short wave radiation users guide

    NASA Astrophysics Data System (ADS)

    Martinolich, Paul; Arnone, Robert A.

    1995-05-01

    Solar irradiance for short wave radiation (400-700 nm) at the sea surface can be calculated using inputs obtained from satellite systems and model estimates. The short wave solar irradiance is important for estimating the surface heating that occurs in the near surface and estimating the available irradiance for biological growth in the upper ocean. The variability of the solar irradiance is believed to have significant influence on the global carbon cycle. This users guide provides an understanding of the models and operational procedures for using the software and understanding the results.

  12. 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.

  13. 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.

  14. Short QT Syndrome in Current Clinical Practice.

    PubMed

    Khera, Sahil; Jacobson, Jason T

    2016-01-01

    Short QT syndrome is a rare inherited autosomal dominant cardiac channelopathy associated with malignant ventricular and atrial arrhythmias. A shortened corrected QT interval is a marker for risk of malignant arrhythmias, which are secondary to increased transmural dispersion of repolarization. The underlying gain of function mutations in the potassium channels are most common but genetic testing remains low yield. This review discusses the cellular mechanisms, genetic involvement, clinical presentation, and current recommended management of patients with short QT syndrome relevant to current clinical practice. PMID:26440650

  15. Personality characteristics of long and short sleepers.

    PubMed

    Wagner, M K; Mooney, D K

    1975-07-01

    College students categorized as either long sleepers (mean = 9.25 hours per day) or short sleepers (mean = 6.2 hours per day) were administered a variety of personality tests. With a multiple regression analysis the patterns on the MMPI of higher MA and F with a lowered PD and CI (number of critical items) most significantly differentiated the short from the long sleepers. Also of relevance was the finding that long sleepers were more likely to score in the pathological direction on most of the MMPI clinical scales. PMID:1165264

  16. 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

  17. Undulators for short wavelength FEL amplifiers

    SciTech Connect

    Schlueter, R.D.

    1994-12-01

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

  18. 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…

  19. 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…

  20. 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 ...

  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. Plasma mirrors for short pulse lasers

    SciTech Connect

    Yanovksy, V.P.; Perry, M.D.; Brown, C.G.; Feit, M.D.; Rubenchik, A.

    1997-06-11

    We show experimentally and theoretically that plasmas created by a sufficiently (1014 1015 2 short (<500 fs) intense W/cm ) laser pulse on the surface of dielectric material act as nearly perfect mirrors: reflecting p to 90% of the incident radiation with a wavefront quality equal to that of the initial solid surface.

  3. Short Stay Summary Report, Spring 2003.

    ERIC Educational Resources Information Center

    Okanagan Coll., Kelowan (British Columbia).

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

  4. 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.

  5. 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…

  6. Personality Characteristics of Long and Short Sleepers

    ERIC Educational Resources Information Center

    Wagner, Mervyn K.; Mooney, Dean K.

    1975-01-01

    The present study used a variety of personality tests to compare long- and short-sleeping college students and a stepwise multiple regression analysis in order to arrive at a pattern analysis and to include a test for the effect of possible repressor variables. (Author)

  7. 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…

  8. 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)

  9. 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…

  10. 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…

  11. 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

  12. 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)

  13. 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.

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

    ERIC Educational Resources Information Center

    Stacy, Gerald

    2000-01-01

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

  15. 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.

  16. 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.

  17. A Short-Duration Gel Diffusion Experiment.

    ERIC Educational Resources Information Center

    Mulcahy, D. E.

    1980-01-01

    Described is a gel diffusion experiment that permits the completion of duplicate diffusion runs within a three-hour laboratory session. Information included for the short-duration gel diffusion experiment is the diffusion cell, the experiment, data treatment, and the expected results of the experiment. (Author/DS)

  18. 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…

  19. GSFC short pulse radar, JONSWAP-75

    NASA Technical Reports Server (NTRS)

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

    1977-01-01

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

  20. A Short Sheffer axiom for Boolean algebra.

    SciTech Connect

    Veroff, R.; McCune, W.

    2000-06-30

    A short Sheffer stroke identity is shown to be a single axiom for Boolean algebra. The axiom has length 15 and 3 variables. The proof shows that it is equivalent to Sheffer's original 3-basis for the theory. Automated deduction techniques were used to find the proof. The shortest single axiom previously known to us has length 105 and 6 variables.

  1. Short single axioms for boolean algebra.

    SciTech Connect

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

    2002-01-01

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

  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. 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

  4. ACS Internal CTE Monitor and Short Darks

    NASA Astrophysics Data System (ADS)

    Ogaz, Sara

    2012-10-01

    This is a continuation of Program 12386 and is to be executed once a cycle for internal CTE and short darks, respectively.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.Since Cycle 18, this monitoring program was reduced {compared to 11881} considering that there is also an external CTE monitoring program.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 a set of dark frames for each of the following exposure times: 66 s {60 s for some subarrays} and 339 s. These short darks and the 1040 s darks obtained from the CCD Daily Monitor will sample warm and hot pixels over logarithmically increasing brightness. Subarray short darks were newly added in Cycle 19 to study CTE tails in different subarray readout modes.

  5. ACS Internal CTE Monitor and Short Darks

    NASA Astrophysics Data System (ADS)

    Ogaz, Sara

    2013-10-01

    This is a continuation of Program 13156 and is to be executed once a cycle for internal CTE and short darks, respectively.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.Since Cycle 18, this monitoring program was reduced {compared to 11881} considering that there is also an external CTE monitoring program.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 a set of dark frames for each of the following exposure times: 66 s {60 s for some subarrays} and 339 s. These short darks and the 1040 s darks obtained from the CCD Daily Monitor will sample warm and hot pixels over logarithmically increasing brightness. Subarray short darks were added in Cycle 19 to study CTE tails in different subarray readout modes.

  6. 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.

  7. Cohen syndrome in the Ohio Amish.

    PubMed

    Falk, Marni J; Feiler, Heidi S; Neilson, Derek E; Maxwell, Kathleen; Lee, James V; Segall, Samantha K; Robin, Nathaniel H; Wilhelmsen, Kirk C; Träskelin, Ann-Liz; Kolehmainen, Juha; Lehesjoki, Anna-Elina; Wiznitzer, Max; Warman, Matthew L

    2004-07-01

    We describe eight members from two large Amish kindreds who share a phenotype characterized by early-onset pigmentary retinopathy and myopia, global developmental delay and mental retardation, microcephaly, short stature, hypotonia, joint hyperextensibility, small hands and feet, common facial appearance, and friendly disposition. Several of the children had intermittent granulocytopenia. The phenotypic occurrence in three siblings coupled with the increased coefficient of inbreeding in the Amish suggested that this disorder is autosomal recessive and due to a single founder allele. Despite similarity to the clinical features of Cohen syndrome, experienced dysmorphologists attending the 23rd David W. Smith Workshop suggested the facial gestalt of the Amish children was inconsistent with this diagnosis. We mapped the locus responsible for these individuals' phenotype to chromosome 8q22-q23, which contains the recently discovered Cohen syndrome gene, COH1. Complete sequencing of the COH1 gene identified a likely disease-causing frameshift mutation and a missense mutation in the Amish patients. A comparison of features among different Cohen syndrome populations with shared linkage to the COH1 locus or known COH1 gene mutations may allow for the determination of improved clinical criteria on which to suspect the diagnosis of Cohen syndrome. We conclude that facial gestalt seems to be an unreliable indicator of Cohen syndrome between ethnic populations, although it is quite consistent among affected individuals within a particular ethnic group. Other features common to almost all individuals with proven COH1 mutations, such as retinal dystrophy, myopia, microcephaly, mental retardation, global developmental delay, hypotonia, and joint hyperextensibility appear to be better clinical indicators of this disorder. PMID:15211651

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

    PubMed

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

    2015-11-01

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

  9. De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures.

    PubMed

    Fukai, Ryoko; Saitsu, Hirotomo; Tsurusaki, Yoshinori; Sakai, Yasunari; Haginoya, Kazuhiro; Takahashi, Kazumasa; Hubshman, Monika Weisz; Okamoto, Nobuhiko; Nakashima, Mitsuko; Tanaka, Fumiaki; Miyake, Noriko; Matsumoto, Naomichi

    2016-05-01

    The voltage-gated Kv10.1 potassium channel, also known as ether-a-go-go-related gene 1, encoded by KCNH1 (potassium voltage-gated channel, subfamily H (eag related), member 1) is predominantly expressed in the central nervous system. Recently, de novo missense KCNH1 mutations have been identified in six patients with Zimmermann-Laband syndrome and in four patients with Temple-Baraitser syndrome. These syndromes were historically considered distinct. Here we report three de novo missense KCNH1 mutations in four patients with syndromic developmental delay and epilepsy. Two novel KCNH1 mutations (p.R357Q and p.R357P), found in three patients, were located at the evolutionally highly conserved arginine in the channel voltage-sensor domain (S4). Another mutation (p.G496E) was found in the channel pore domain (S6) helix, which acts as a hinge in activation gating and mainly conducts non-inactivating outward potassium current. A previously reported p.G496R mutation was shown to produce no voltage-dependent outward current in CHO cells, suggesting that p.G496E may also disrupt the proper function of the Kv channel pore. Our report confirms that KCNH1 mutations are associated with syndromic neurodevelopmental disorder, and also support the functional importance of the S4 domain. PMID:26818738

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

    PubMed Central

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

    1995-01-01

    1. The degree to which mammalian brain cells swell in hypotonic environments has not previously been determined. We exposed hippocampal tissue slices prepared from anaesthetized rats to artificial cerebrospinal fluid from which varying amounts of NaCl had been deleted. Interstitial volume (ISV) change was determined from the volume of dilution of the marker ions tetramethylammonium (TMA+) or tetraethylammonium (TEA+). Tissue electrical resistance was measured as the voltage generated by constant current pulses. 2. ISV decreased as a function of lowered extracellular osmolality (osmotic pressure, pi o), indicating cell swelling. After reaching a minimum, ISV recovered partially, suggesting regulatory volume decrease of cells. After restoring normal pi o the ISV expanded, indicating post-hypotonic cell shrinkage. The electrical resistance of the tissue (Ro) increased when pi o was lowered, due to the reduced ionic strength, as well as restricted ISV. 3. To control for low NaCl concentration, reduced NaCl was replaced by mannitol or fructose. In isosmotic, NaCl-deficient solution, ISV showed inconsistent change, and Ro corrected for ionic strength tended to decrease. 4. Extracellular K+ concentration decreased slightly in low pi o except when spreading depression caused it to increase. Extracellular Ca2+ concentration decreased substantially, consistently and reversibly. Administration of isosmotic low-NaCl concentration solutions caused a similar decrease in extracellular Ca2+ concentrations. We propose that low Na+ concentration in extracellular fluid impaired the extrusion of Ca2+. 5. In severely hypotonic solution, ISV was reduced to 25% of its control volume, corresponding to a mean cell volume increase of at least 11%, probably more. From plotting relative changes in ISV against osmolarity we concluded that, within the range tested, hypotonic cell swelling was not opposed by the close approach of plasma membranes of neighbouring cells. PMID:8544131

  11. Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

    PubMed

    Petrovski, Slavé; Küry, Sébastien; Myers, Candace T; Anyane-Yeboa, Kwame; Cogné, Benjamin; Bialer, Martin; Xia, Fan; Hemati, Parisa; Riviello, James; Mehaffey, Michele; Besnard, Thomas; Becraft, Emily; Wadley, Alexandrea; Politi, Anya Revah; Colombo, Sophie; Zhu, Xiaolin; Ren, Zhong; Andrews, Ian; Dudding-Byth, Tracy; Schneider, Amy L; Wallace, Geoffrey; Rosen, Aaron B I; Schelley, Susan; Enns, Gregory M; Corre, Pierre; Dalton, Joline; Mercier, Sandra; Latypova, Xénia; Schmitt, Sébastien; Guzman, Edwin; Moore, Christine; Bier, Louise; Heinzen, Erin L; Karachunski, Peter; Shur, Natasha; Grebe, Theresa; Basinger, Alice; Nguyen, Joanne M; Bézieau, Stéphane; Wierenga, Klaas; Bernstein, Jonathan A; Scheffer, Ingrid E; Rosenfeld, Jill A; Mefford, Heather C; Isidor, Bertrand; Goldstein, David B

    2016-05-01

    Whole-exome sequencing of 13 individuals with developmental delay commonly accompanied by abnormal muscle tone and seizures identified de novo missense mutations enriched within a sub-region of GNB1, a gene encoding the guanine nucleotide-binding protein subunit beta-1, Gβ. These 13 individuals were identified among a base of 5,855 individuals recruited for various undiagnosed genetic disorders. The probability of observing 13 or more de novo mutations by chance among 5,855 individuals is very low (p = 7.1 × 10(-21)), implicating GNB1 as a genome-wide-significant disease-associated gene. The majority of these 13 mutations affect known Gβ binding sites, which suggests that a likely disease mechanism is through the disruption of the protein interface required for Gα-Gβγ interaction (resulting in a constitutively active Gβγ) or through the disruption of residues relevant for interaction between Gβγ and certain downstream effectors (resulting in reduced interaction with the effectors). Strikingly, 8 of the 13 individuals recruited here for a neurodevelopmental disorder have a germline de novo GNB1 mutation that overlaps a set of five recurrent somatic tumor mutations for which recent functional studies demonstrated a gain-of-function effect due to constitutive activation of G protein downstream signaling cascades for some of the affected residues. PMID:27108799

  12. Arch fingerprints, hypotonia, and areflexia associated with X linked mental retardation.

    PubMed Central

    Stevenson, R E; Häne, B; Arena, J F; May, M; Lawrence, L; Lubs, H A; Schwartz, C E

    1997-01-01

    A syndrome with distinctive facies, poor muscle tone, absent deep tendon reflexes, tapered fingers, excessive fingerprint arches, genu valgum and mild-moderate mental retardation has occurred in four males in two generations of a white family of European ancestry. The facies are characterised by square configuration, tented upper lip, and thickening of the helices, upper eyelids, and alae nasi. At birth and at maturity, growth (head circumference, height, weight) of affected males is comparable to or greater than unaffected male sibs. Moderate impairment of cognitive function was documented (IQ scores between 40-51). Carriers show no heterozygote manifestations. This X linked condition appears to be different from other syndromes with mental retardation, although there are certain similarities with the alpha thalassaemia-mental retardation syndrome (ATR-X). Linkage analysis found tight linkage to DXS1166 and DXS995 in Xq13 and Xq21 respectively. Images PMID:9192265

  13. 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) The product is covered by an arrangement...

  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 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... scope of the product category into which to classify the short life cycle merchandise identified by...

  17. 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...

  18. 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...

  19. 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...

  20. 40 CFR 86.1427 - Certification Short Test procedure; overview.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 40 Protection of Environment 19 2011-07-01 2011-07-01 false Certification Short Test procedure...-Cycle Light-Duty Trucks; Certification Short Test Procedures § 86.1427 Certification Short Test... that may be encountered in the conduct of the Emission Control System Performance Warranty Short...

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

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 40 Protection of Environment 19 2010-07-01 2010-07-01 false Certification Short Test procedure...-Cycle Light-Duty Trucks; Certification Short Test Procedures § 86.1427 Certification Short Test... that may be encountered in the conduct of the Emission Control System Performance Warranty Short...

  2. 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.

  3. Ultimately short ballistic vertical graphene Josephson junctions

    PubMed Central

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

    2015-01-01

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

  4. Binding in short-term visual memory.

    PubMed

    Wheeler, Mary E; Treisman, Anne M

    2002-03-01

    The integration of complex information in working memory, and its effect on capacity, shape the limits of conscious cognition. The literature conflicts on whether short-term visual memory represents information as integrated objects. A change-detection paradigm using objects defined by color with location or shape was used to investigate binding in short-term visual memory. Results showed that features from the same dimension compete for capacity, whereas features from different dimensions can be stored in parallel. Binding between these features can occur, but focused attention is required to create and maintain the binding over time, and this integrated format is vulnerable to interference. In the proposed model, working memory capacity is limited both by the independent capacity of simple feature stores and by demands on attention networks that integrate this distributed information into complex but unified thought objects. PMID:11900102

  5. Short-time diffusivity of dicolloids.

    PubMed

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

    2014-06-01

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

  6. 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

  7. 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.

  8. Short-Range Nucleon-Nucleon Correlations

    SciTech Connect

    Douglas Higinbotham

    2011-10-01

    Valence-shell nucleon knock-out experiments, such as 12C(e,e'p)11B, measure less strength then is predicted by independent particle shell model calculations. The theoretical solution to this problem is to include the correlations between the nucleons in the nucleus in the calculations. Motivated by these results, many electron scattering experiments have tried to directly observe these correlations in order to gain new insight into the short-range part of the nucleon-nucleon potential. Unfortunately, many competing mechanisms can cause the same observable final-state as an initial-state correlation, making truly isolating the signal extremely challenging. This paper reviews the recent experimental evidence for short-range correlations, as well as explores the possibility that such correlations are responsible for the EMC effect in the 0.3 < xB < 0.7 deep inelastic scattering ratios.

  9. 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

  10. 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.

  11. 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.

  12. 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

  13. Perceptual interference decays over short unfilled intervals.

    PubMed

    Schulkind, M D

    2000-09-01

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

  14. 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.

  15. 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.

  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. Rapid nuclear import of short nucleic acids.

    PubMed

    Kitagawa, Mai; Okamoto, Akimitsu

    2016-10-01

    Exogenous short-chain nucleic acids undergo rapid import into the nucleus. Fluorescence-labeled dT1-13 DNA microinjected into the cytoplasm domain of a HeLa cell was rapidly imported into the nucleus domain within 1min. This is much more rapid than what has been observed for intracellular diffusion of small molecules. In contrast, import of longer nucleic acids with a length of over 30nt into the nucleus was suppressed. PMID:27597250

  18. Ultra short pulse reconstruction software: GROG

    NASA Astrophysics Data System (ADS)

    Galletti, M.; Galimberti, M.; Giulietti, D.; Curcio, A.

    2016-07-01

    A new algorithmic method based on the 1D Conjugate Gradient Minimization Method, is presented. The purpose is, analyzing experimental FROG/GRENOUILLE traces, to accurately retrieve intensity and phase both in temporal and spectral domain so as to completely characterize an Ultra Short High Power laser pulse. This algorithm shows important features in the reconstruction of many different pulse classes. The employment of this algorithm also permits the inclusion of material response function present in the FROG/GRENOUILLE set-up.

  19. Source of coherent short wavelength radiation

    DOEpatents

    Villa, Francesco

    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.

  20. Short-pulse photolytic iodine laser

    NASA Astrophysics Data System (ADS)

    Tate, Ralph F.; Harris, Melvin; Anderson, Brian T.; Hager, Gordon D.

    2000-08-01

    A compact, short pulse photolytic iodine laser (PIL) system designed for use as a source in Raman conversion experiments is described. The single-shot, flashlamp-pumped laser outputs 10 Joules in a 3 microsecond(s) FWHM pulse at a wavelength of 1.315 micrometer and uses n-C3F7I as the renewable laser fuel. Laser design and performance characteristics are presented.

  1. 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.

  2. 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.

  3. Short wavelength striations on expanding plasma clouds

    SciTech Connect

    Winske, D.; Gary, S.P.

    1989-01-01

    The growth and evolution of short wavelength (

  4. Apparent Ruvalcaba syndrome with genitourinary abnormalities.

    PubMed

    Bialer, M G; Wilson, W G; Kelly, T E

    1989-07-01

    The Ruvalcaba syndrome is a rare malformation syndrome characterized by skeletal dysplasia, facial anomalies, and mental retardation. We report on a 22-year-old woman with severe growth and mental retardation and numerous manifestations characteristic of the Ruvalcaba syndrome. In addition, she has several anomalies not previously described in the Ruvalcaba syndrome, including upslanting palpebral fissures, torus palatinus, hiatal hernia with gastroesophageal reflux, recurrent respiratory infections, pectus excavatum, equinovarous deformity, hypotonia, unilateral renal hypoplasia, an accessory ovary, and atretic fallopian tube. Review of published reports of Ruvalcaba syndrome confirms variability of the clinical and radiographic changes. Findings present in at least 50% of reported patients include mental retardation, short stature, pubertal delay, an abnormal nose (usually beaked) with hypoplastic nasal alae, microstomia with narrow maxilla, thin upper lip vermilion, broad hips, small hands, joint limitation, short fingers and toes, and vertebral abnormalities. Because 5 of the reported patients had renal abnormalities, a renal ultrasound or contrast study is indicated in the evaluation of these patients. Additional reports, particular from multiplex families, will be important to better characterize this syndrome. PMID:2679089

  5. Combined Dup(7)(q22.1q32.2), Inv(7)(q31.31q31.33), and Ins(7;19)(q22.1;p13.2p13.2) in a 12-year-old boy with developmental delay and various dysmorphism.

    PubMed

    Frühmesser, Anne; Erdel, Martin; Duba, Hans-Christoph; Fauth, Christine; Amberger, Albert; Utermann, Gerd; Zschocke, Johannes; Kotzot, Dieter

    2013-07-01

    De novo combined duplications/inversions are very rare chromosomal rearrangements. For chromosome 7 just some dozen cases of duplications of various parts of the long arm have been published. We report on a 12-year-old boy with muscular hypotonia, global developmental delay, short stature, and various facial dysmorphism including frontal bossing, temporal narrowing, slightly down-slanting palpebral fissures, a broad nasal root, a long philtrum, a thin and tented upper lip, a drooping lower lip, micrognathia, prominent ears, a short neck, and a low posterior hairline. Karyotype analysis and molecular investigations revealed a complex de novo chromosomal rearrangement on 7q. FISH analysis with locus specific YACs and BACs and SNP array with the Illumina(®) HumanOmni1-Quad v1.0 BeadChip disclosed a direct duplication in the long arm of chromosome 7 (q22.1→q32.2) and an inversion located at the breakpoint between the two copies of the duplication (q31.31→q31.33). In addition, breakpoint characterization at the molecular level revealed a 386 bp insertion carrying two Alu elements of chromosome 19p13.2 between the two copies of the duplication. By a comparison of the SNP haplotypes of the derivative chromosome of the patient and both parents a two-step formation during spermatogenesis was suggested as the most likely mechanism of formation. PMID:23608969

  6. 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

  7. Management of patients with a short bowel

    PubMed Central

    Nightingale, Jeremy M D

    2001-01-01

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

  8. 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.

  9. 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.

  10. Detecting short period variations in lava flux

    NASA Astrophysics Data System (ADS)

    James, M. R.; Pinkerton, H.

    2009-04-01

    Although the underpinning processes that govern the flow of lava have been recognized for some time, modeling the evolution of lava flow fields remains problematic due to the difficulties in fully constraining inputs to flow models. One of the main parameters controlling the evolution of individual flows is effusion rate, and long period effusion rate changes, such as flow-waning prior to the cessation of an eruption, can now be routinely incorporated in simulations. However, effusion rates commonly vary over a wide range of timescales (from years to minutes) and, for short period changes, neither the cause nor the effects are well understood. Nevertheless, short period changes can result in inaccuracies in the input data for simulations and can be responsible for altering flow directions by either building or breaching flow levees. Hence, understanding the processes involved in such changes is important for flow modeling and, furthermore, could eventually provide insight into flow instabilities within the conduit or variability within degassing processes. Observations of short period (e.g. <1 hr) variations in lava flux have been made previously in the field but associated changes cannot be identified in effusion rate data because of the generally low sampling frequency of such data. During the last week of July 2008, trail cameras were used to obtain dense time series imagery of the active lava flow at Mount Etna, Sicily. The trail cameras were modified to capture timelapse imagery by adding an interval timer which triggered image capture every 10 minutes. During daylight, the cameras collected 5 M-pixel colour images and, during nighttime, they automatically switched to a 2 M-pixel camera which collected (uncalibrated) black and white infrared images. For the color images, haze, cloud and sunglare combined with the low contrast between the active lava and its surroundings, prevented useful analysis. However, the infrared images captured at night clearly

  11. 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.

  12. 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

  13. An Ultra-Short Pulsed Neutron Source

    NASA Astrophysics Data System (ADS)

    Pomerantz, Ishay; McCary, Eddie; Meadows, Alexander R.; Arefiev, Alexey; Bernstein, Aaron C.; Chester, Clay; Cortez, Jose; Donovan, Michael E.; Dyer, Gilliss; Gaul, Erhard W.; Hamilton, David; Kuk, Donghoon; Lestrade, Arantxa; Wang, Chunhua; Ditmire, Todd; Hegelich, Manuel B.

    2014-10-01

    We report on a novel compact laser-driven neutron source with unprecedented short pulse duration (<50 ps) and high flux (>1018 neutrons/cm2/s), an order of magnitude higher than any existing source. In our experiments, high-energy electron jets are generated from thin (<1 μm) plastic targets irradiated by a petawatt laser. These intense electron beams are employed to generate neutrons from a metal converter. Our method opens venues for enhancing neutron radiography contrast, conducting time-resolved neutron-damage studies at their characteristic evolution time-scales and for creating astrophysical conditions of heavy element synthesis in the laboratory.

  14. Short-time dynamics of polypeptides.

    PubMed

    Arashiro, Everaldo; Drugowich de Felício, J R; Hansmann, Ulrich H E

    2007-01-28

    The authors study the short-time dynamics of helix-forming polypeptide chains using an all-atom representation of the molecules and an implicit solvation model to approximate the interaction with the surrounding solvent. The results confirm earlier observations that the helix-coil transition in proteins can be described by a set of critical exponents. The high statistics of the simulations allows the authors to determine the exponent values with increased precision and support universality of the helix-coil transition in homopolymers and (helical) proteins. PMID:17286517

  15. 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.

  16. 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.

  17. Short review on solar energy systems

    NASA Astrophysics Data System (ADS)

    Herez, Amal; Ramadan, Mohamad; Abdulhay, Bakri; Khaled, Mahmoud

    2016-07-01

    Solar energy can be utilized mainly in heat generation and electricity production. International energy agency (IEA) shows, in a comparative study on the world energy consumption that in 2050 solar arrays installation will provide about 45% of world energy demand. Solar energy is one of the most important renewable energy source which plays a great role in providing energy solutions. As known there is wide variety of types of collectors and applications of solar energy. This paper aimed to make a short review on solar energy systems, according to types of collectors and applications used.

  18. Thomson scattering in short pulse laser experiments

    SciTech Connect

    Hill, E. G.; Rose, S. J.

    2012-08-15

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

  19. SOFIP: A Short Orbital Flux Integration Program

    NASA Technical Reports Server (NTRS)

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

    1979-01-01

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

  20. 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.

  1. 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.

  2. 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.

  3. Longitudinal Diagnostics for Short Electron Beam Bunches

    SciTech Connect

    Loos, H.; /SLAC

    2010-06-11

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

  4. 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.

  5. 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

  6. 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.

  7. 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.

  8. 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.

  9. 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.

  10. Clustering Short Time-Series Microarray

    NASA Astrophysics Data System (ADS)

    Ping, Loh Wei; Hasan, Yahya Abu

    2008-01-01

    Most microarray analyses are carried out on static gene expressions. However, the dynamical study of microarrays has lately gained more attention. Most researches on time-series microarray emphasize on the bioscience and medical aspects but few from the numerical aspect. This study attempts to analyze short time-series microarray mathematically using STEM clustering tool which formally preprocess data followed by clustering. We next introduce the Circular Mould Distance (CMD) algorithm with combinations of both preprocessing and clustering analysis. Both methods are subsequently compared in terms of efficiencies.

  11. 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.

  12. Hamiltonian Framework for Short Optical Pulses

    NASA Astrophysics Data System (ADS)

    Amiranashvili, Shalva

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

  13. Developing Short Films of Geoscience Research

    NASA Astrophysics Data System (ADS)

    Shipman, J. S.; Webley, P. W.; Dehn, J.; Harrild, M.; Kienenberger, D.; Salganek, M.

    2015-12-01

    In today's prevalence of social media and networking, video products are becoming increasingly more useful to communicate research quickly and effectively to a diverse audience, including outreach activities as well as within the research community and to funding agencies. Due to the observational nature of geoscience, researchers often take photos and video footage to document fieldwork or to record laboratory experiments. Here we present how researchers can become more effective storytellers by collaborating with filmmakers to produce short documentary films of their research. We will focus on the use of traditional high-definition (HD) camcorders and HD DSLR cameras to record the scientific story while our research topic focuses on the use of remote sensing techniques, specifically thermal infrared imaging that is often used to analyze time varying natural processes such as volcanic hazards. By capturing the story in the thermal infrared wavelength range, in addition to traditional red-green-blue (RGB) color space, the audience is able to experience the world differently. We will develop a short film specifically designed using thermal infrared cameras that illustrates how visual storytellers can use these new tools to capture unique and important aspects of their research, convey their passion for earth systems science, as well as engage and captive the viewer.

  14. Short cracks in piping and piping welds

    SciTech Connect

    Wilkowski, G.M.; Brust, F.; Francini, R.; Ghadiali, N.; Kilinski, T.; Krishnaswamy, P.; Landow, M.; Marschall, C.W.; Rahman, S.; Scott, P. )

    1992-04-01

    This is the second semiannual report of the US Nuclear Regulatory Commission's Short Cracks in Piping and Piping Welds research program. The program began in March 1990 and will extend for 4 years. The intent of this program is to verify and improve fracture analyses for circumferentially cracked large-diameter nuclear piping with crack sizes typically used in leak-before-break analyses or in-service flaw evaluations. Only quasi-static loading rates are evaluated since the NRC's International Piping Integrity Research Group (IPIRG) program is evaluating the effects of seismic loading rates on cracked piping systems. Progress for through-wall-cracked pipe involved (1) conducting a 28-inch diameter stainless steel SAW and 4-inch diameter French TP316 experiments, (2) conducting a matrix of FEM analyses to determine GE/EPRI functions for short TWC pipe, (3) comparison of uncracked pipe maximum moments to various analyses and FEM solutions, (4) development of a J-estimation scheme that includes the strength of both the weld and base metals. Progress for surface-cracked pipe involved (1) conducting two experiments on 6-inch diameter pipe with d/t = 0.5 and {Theta}/{pi} = 0.25 cracks, (2) comparisons of the pipe experiments to Net-Section-Collapse predictions, and (3) modification of the SC.TNP and SC.TKP J-estimation schemes to include external surface cracks.

  15. Short-term energy outlook, January 1999

    SciTech Connect

    1999-01-01

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

  16. 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.

  17. J-factors of short DNA molecules.

    PubMed

    Zoli, Marco

    2016-06-01

    The propensity of short DNA sequences to convert to the circular form is studied by a mesoscopic Hamiltonian method which incorporates both the bending of the molecule axis and the intrinsic twist of the DNA strands. The base pair fluctuations with respect to the helix diameter are treated as path trajectories in the imaginary time path integral formalism. The partition function for the sub-ensemble of closed molecules is computed by imposing chain end boundary conditions both on the radial fluctuations and on the angular degrees of freedom. The cyclization probability, the J-factor, proves to be highly sensitive to the stacking potential, mostly to its nonlinear parameters. We find that the J-factor generally decreases by reducing the sequence length (N) and, more significantly, below N = 100 base pairs. However, even for very small molecules, the J-factors remain sizeable in line with recent experimental indications. Large bending angles between adjacent base pairs and anharmonic stacking appear as the causes of the helix flexibility at short length scales. PMID:27276942

  18. 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.

  19. Short-wavelength Magnetic Buoyancy Instability

    NASA Astrophysics Data System (ADS)

    Mizerski, K. A.; Davies, C. R.; Hughes, D. W.

    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-Schrödinger 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.

  20. Modelling microstructurally sensitive fatigue short crack growth

    NASA Astrophysics Data System (ADS)

    de Los Rios, E. R.; Xin, X. J.; Navarro, A.

    1994-10-01

    Microstructurally sensitive fatigue short crack growth can occur in many engineering components devoid of large defects. Continuum mechanics principles, including linear elastic fracture mechanics, used in damage tolerance design and life prediction methods are not applicable in these situations and therefore new concepts need to be developed to characterize this type of growth. A microstructurally sensitive model of fatigue crack growth is presented in which the effect of microstructure is dominant in the early stage of growth but plays a negligible role after the crack has gone through the transition from structure-sensitive to structure-insensitive growth. The effect of both microstructure and structure sensitive variables on the transition from short cracks to continuum mechanics and the conditions for crack instability leading to final failure are examined. The microstructural variables incorporated in the equations that describe the model are those controlling the extent and intensity of crack tip plasticity such as grain size, precipitation and dispersion hardening, strain hardening and mis-orientation between grains. It is expected that the concepts developed within the model will form the basis for the design of new crack-resistant materials.