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Sample records for short stature hypotonia

  1. Short stature

    MedlinePlus

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

  2. Short stature with congenital ichthyosis.

    PubMed

    Lakhani, Som J; Lakhani, Om J

    2015-12-09

    PIBIDS syndrome (photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility and short stature) is a variant of trichothiodystrophy. It is a rare form of autosomal recessive congenital ichthyosis. Short stature is a vital component of PIBIDS syndrome. We present the cases of two siblings in whom we diagnosed PIBIDS syndrome. On evaluation for short stature, they were found to have severe vitamin D deficiency, which on correction led to the patients having considerable gain in stature. With this case, we would also like to propose that vitamin D deficiency could be one of the treatable causes of short stature in PIBIDS syndrome.

  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 Central

    Şıklar, Zeynep; Berberoğlu, Merih

    2014-01-01

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

  5. Evaluation of Short and Tall Stature in Children.

    PubMed

    Barstow, Craig; Rerucha, Caitlyn

    2015-07-01

    Short stature is defined as a height more than two standard deviations below the mean for age (less than the 3rd percentile). Tall stature is defined as a height more than two standard deviations above the mean for age (greater than the 97th percentile). The initial evaluation of short and tall stature should include a history and physical examination, accurate serial measurements, and determination of growth velocity, midparental height, and bone age. Common normal variants of short stature are familial short stature, constitutional delay of growth and puberty, and idiopathic short stature. Pathologic causes of short stature include chronic diseases; growth hormone deficiency; and genetic disorders, such as Turner syndrome. Tall stature has the same prevalence as short stature, but it is a much less common reason for referral to subspecialty care. Common causes of tall stature include familial tall stature, obesity, Klinefelter syndrome, Marfan syndrome, and precocious puberty. Although most children with short or tall stature have variants of normal growth, children who are more than three standard deviations from the mean for age are more likely to have underlying pathology. Evaluation for pathologic etiologies is guided by history and physical examination findings.

  6. A rare cause of short stature: Leri Weill dyschondrosteosis.

    PubMed

    Cakir, M; Kalyoncu, M; Odemiş, E; Okten, A

    2003-01-01

    Short stature is a common pediatric problem. It may occur rarely as a result of genetic disorders. Leri-Weill dyschondrosteosis (LWD) is one of the rare genetic disorders of skeletal system resulting with short stature. It is characterized by shortness of stature and Madelung deformity of the wrist. Here we report a case of LWD with some skeletal stigmas of Turner syndrome. She has also depressed medial tibial condyles that to our knowledge, has not previously been reported in LWD.

  7. 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.

  8. 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.

  9. 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

  10. 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.

  11. 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

  12. 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

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

    PubMed

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

    2015-12-01

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

  14. 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 ...

  15. 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.

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

    PubMed

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

    2012-12-01

    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.

  17. A subject with abnormally short stature from Imperial Rome.

    PubMed

    Ottini, L; Minozzi, S; Pantano, W B; Maucci, C; Gazzaniga, V; Angeletti, L R; Catalano, P; Mariani-Costantini, R

    2001-01-01

    In spite of the rich iconographic and literary documentation from ancient sources, the skeletal evidence concerning individuals of abnormally short stature in the Greco-Roman world is scarce. The necropolis of Viale della Serenissima/Via Basiliano in Rome, mostly referable to the II century AD, recently yielded the skeleton of an individual characterized by proportionate short stature, gracile features suggesting female gender, and delayed epiphysial closure, associated with full maturation of the permanent dentition. These characteristics could be compatible with the phenotype associated with female gonadal dysgenesis. The skeletal individual described here, although poorly preserved, represents the first evidence of a paleopathologic condition affecting skeletal growth documented for the population of ancient Rome.

  18. Hypoglossia-Hypodactyly Syndrome with Short Stature - A Case Report

    PubMed Central

    Goyal, Manisha; Singh, Ankur; Singh, Pratiksha

    2014-01-01

    The Oromandibular Limb Hypogenesis Syndromes (OLHS) comprises a spectrum of disorders involving the tongue, mandible, and the limbs and are characterized by hypoplastic mandible, absence of the lower incisors, hypoglossia, digits and limbs abnormalities ranges from syndactyly to amelia. In this report, we report a case of OLHS with growth hormone deficiency as a cause of short stature, which has not been described previously to the best of our knowledge. PMID:24959494

  19. Hereditary ectodermal dysplasia, olivopontocerebellar degeneration, short stature, and hypogonadism.

    PubMed Central

    Rushton, A R; Genel, M

    1981-01-01

    Two teenaged children born of normal parents in a consanguineous family had evidence of abnormal neurological, endocrine, and ectodermal development. They had mental retardation, hearing loss, ocular dysmetria, hyperreflexia, and ataxia consistent with olivopontocerebellar degeneration. They had hypogonadotrophic hypogonadism and extremely short stature despite normal serum growth hormone and somatomedin-C. There was also hypodontia with peg shaped teeth and mid-face hypoplasia. This syndrome of hypoplasia of mid-lind structures appeared to be inherited as an autosomal recessive trait. Images PMID:7328612

  20. 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.

  1. Causes of short stature in Pakistani children found at an Endocrine Center

    PubMed Central

    Jawa, Ali; Riaz, Syed Hunain; Khan Assir, Muhammad Zaman; Afreen, Bahjat; Riaz, Amna; Akram, Javed

    2016-01-01

    Background and Objective: Short stature is defined as height below 3rd centile. Causes of short stature can range from familial, endocrine disorders, chronic diseases to chromosomal disorders. Most common cause in literature being idiopathic short stature. Early detection and management of remedial disorders like malnutrition and vitamin D deficiency, Endocrine disorders like growth hormone deficiency & hypothyroidism can lead to attainment of expected height. Pakistani data shows idiopathic short stature as the most common cause of short stature. Our study aimed at detecting causes of short stature in children/adolescents at an Endocrine referral center. Methods: A retrospective study was conducted at WILCARE Center for Diabetes, Endocrinology & Metabolism, Lahore on 70 well-nourished children/adolescents. The patients had been evaluated clinically, biochemically and radiologically as needed. Biochemical testing included hormonal testing as well to detect endocrine causes. Data was entered and analyzed in SPSS 20.0. Results: Leading cause of short stature in our population was Growth Hormone (GH) deficiency seen in 48 out of 70 (69%) patients. Second most common endocrine abnormality seen in these patients was Vitamin D deficiency [44 out of 70 patients (63%)]. Primary hypothyroidism; pan-hypopituitarism & adrenal insufficiency were other endocrine causes. The weight for age was below 3rd percentile in 57 (81%) patients, with no association with other major causes. Conclusion: Growth hormone and Vitamin D deficiency constitute one of the major causes of short stature among well-nourished children with short stature in Pakistan. PMID:28083018

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

    PubMed

    Partyka, Małgorzata; Dunin-Wilczyńska, Izabella; Chałas, Renata

    2014-01-01

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

  3. 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

  4. Short stature caused by a natural growth hormone antagonist.

    PubMed

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

    1998-01-01

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

  5. Growth hormone use in the treatment of idiopathic short stature.

    PubMed

    Zucchini, Stefano

    2008-04-01

    Human growth hormone (hGH) therapy has been used for the possible improvement of adult height in individuals with idiopathic short stature (ISS) for more than 20 years. However, given its heterogeneity, and the distinction between 'partial' or 'transient' GH deficiency, the exact definition of ISS is difficult. Since recombinant hGH became available, individuals with all types of GH deficiency have been extensively treated, often without the need for diagnostic justifications. On the other hand, for ISS individuals GH treatment has so far only been possible in a few countries, or in the context of clinical trials. If hGH is certainly effective in individuals with severe GH deficiency, its efficacy is lower and with a high individual-to-individual variability of response in those with non-severe GH deficiency and with ISS. The most important variables associated with a favorable growth response to hGH therapy in GH- and non-GH-deficient individuals are first-year growth response, younger age at start of treatment, difference at start from target height standard deviation score, GH dose, and other variables not necessarily associated with GH peak levels after provocative stimuli. A better choice of individuals to be treated successfully will improve the cost-effectiveness of the treatment, making it more acceptable to the scientific community and other stakeholders.

  6. Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency

    PubMed Central

    Rappold, Gudrun; Blum, Werner F; Shavrikova, Elena P; Crowe, Brenda J; Roeth, Ralph; Quigley, Charmian A; Ross, Judith L; Niesler, Beate

    2007-01-01

    Background Short stature affects approximately 2% of children, representing one of the more frequent disorders for which clinical attention is sought during childhood. Despite assumed genetic heterogeneity, mutations or deletions of the short stature homeobox‐containing gene (SHOX) are found quite frequently in subjects with short stature. Haploinsufficiency of the SHOX gene causes short stature with highly variable clinical severity, ranging from isolated short stature without dysmorphic features to Léri‐Weill syndrome, and with no functional copy of the SHOX gene, Langer syndrome. Methods To characterise the clinical and molecular spectrum of SHOX deficiency in childhood we assessed the association between genotype and phenotype in a large cohort of children of short stature from 14 countries. Results Screening of 1608 unrelated individuals with sporadic or familial short stature revealed SHOX mutations or deletions in 68 individuals (4.2%): complete deletions in 48 (70.6%), partial deletions in 4 (5.9%) and point mutations in 16 individuals (23.5%). Although mean height standard deviation score (SDS) was not different between participants of short stature with or without identified SHOX gene defects (–2.6 vs –2.6), detailed examination revealed that certain bone deformities and dysmorphic signs, such as short forearm and lower leg, cubitus valgus, Madelung deformity, high‐arched palate and muscular hypertrophy, differed markedly between participants with or without SHOX gene defects (p<0.001). Phenotypic data were also compared for 33 children with Turner syndrome in whom haploinsufficiency of SHOX is thought to be responsible for the height deficit. Conclusion A phenotype scoring system was developed that could assist in identifying the most appropriate subjects for SHOX testing. This study offers a detailed genotype‐phenotype analysis in a large cohort of children of short stature, and provides quantitative clinical guidelines for testing of the

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

    PubMed

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

    2015-08-01

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

  8. Short stature in patients with 45,X/46,XY mosaicism: report of three cases.

    PubMed

    Lee, Chih-Fand; Su, Pen-Hua; Chen, Jia-Yuh; Chen, Suh-Jen; Yang, Kai-Chi; Lin, Li-Ling

    2006-01-01

    Chromosomal analysis is routinely considered in all girls--but not boys-of short stature to screen for Turner syndrome. We report three patients of short stature (body height < 3rd percentile) with 45,X/46,XY mosaicism karyotype. They were brought to our outpatient department at the ages of 10, 13, and 18 years, respectively. Two of them had some stigmata of Turner syndrome. Two were treated with growth hormone. In the first patient, body height increased by 20 cm in 3 years 7 months. The second case increased by 6.5 cm in 8 months. We suggest that boys with unexplained short stature should be screened with chromosomal analysis, and growth hormone treatment should be offered to boys of short stature and 45,X/46,XY mosaicism before the epiphyseal plates close.

  9. Functioning and Challenges in Equality and Accessibility Among People with Short Stature.

    PubMed

    Pesola, Kirsti; Anttila, Heidi; Mäkitie, Outi; Leppäjoki, Sanna; Hiekkala, Sinikka

    2016-01-01

    Accessibility is not the same for all of us. This study concerns people with short stature, their functioning and challenges in equality and accessibility in our environment based on average measures.

  10. Short stature in a mother and daughter with terminal deletion of Xp22.3

    SciTech Connect

    Schwinger, E.; Kirschstein, M.; Konermann, T.

    1996-05-03

    Short stature in females is often caused by homozygosity for the terminal portion of Xp due to monosomy X or a deletion. We report on a mother and daughter with short stature as sole phenotypic abnormality and deletion of bands Xp22.32-p22.33 demonstrated by classic and molecular cytogenetic analysis. In both individuals, the deleted X chromosome was late replicating. Molecular analysis suggested that the deletion is terminal and the breakpoint was localized between the STS and DXS7470 loci in Xp22.32. Chromosome analysis is often done on females with short stature to exclude Ullrich-Turner syndrome. Small deletions, terminal or interstitial, are easily missed by conventional cytogenetic investigation; thus molecular analyses are useful to detect those cases. 8 refs., 3 figs.

  11. Short stature in a mother and daughter with terminal deletion of Xp22.3.

    PubMed

    Schwinger, E; Kirschstein, M; Greiwe, M; Konermann, T; Orth, U; Gal, A

    1996-05-03

    Short stature in females is often caused by hemizygosity for the terminal portion of Xp due to monosomy X or a deletion. We report on a mother and daughter with short stature as sole phenotypic abnormality and deletion of bands Xp22.32-p22.33 demonstrated by classic and molecular cytogenetic analysis. In both individuals, the deleted X chromosome was late replicating. Molecular analysis suggested that the deletion is terminal and the breakpoint was localized between the STS and DXS7470 loci in Xp22.32. Chromosome analysis is often done on females with short stature to exclude Ullrich-Turner syndrome. Small deletions, terminal or interstitial, are easily missed by conventional cytogenetic investigation; thus molecular analyses are useful to detect those cases.

  12. Trisomy of the short stature homeobox-containing gene (SHOX), resulting from a duplication-deletion of the X chromosome.

    PubMed

    Adamson, K A; Cross, I; Batch, J A; Rappold, G A; Glass, I A; Ball, S G

    2002-05-01

    The Turner syndrome (TS) is a complex disorder associated with almost invariant short stature and gonadal dysgenesis, as well as a variety of other major organ malformations. Recently, a homeobox-containing gene entitled short-stature homeobox-containing gene (SHOX), was isolated from a minimal short stature gene interval from the pseudoautosomal region of Xp (and Yp). Together with the demonstrable escape of SHOX from X-inactivation, this suggested SHOX to be a strong candidate gene for the short stature component of TS, and as SHOX haploinsufficiency appears to be the molecular basis of a mesomelic short statured skeletal dysplasia (Leri-Weill syndrome), this suggested that SHOX protein expression levels may confer a dosage effect on human stature. However, in this communication we report a normal statured female with gonadal dysgenesis, due to the inheritance of a recombinant duplication-deletion X-chromosome. The karyotype of the proband was 46,X,rec(X)dup(Xp)inv(X)(p11.22q21.2)mat and fluorescent in situ hybridization of her metaphases with a SHOX cosmid confirmed the proband to be trisomic for SHOX. This communication suggests the relationship between levels of SHOX expression and human stature to be more complex than envisaged previously. The presence of normal stature in our patient rather than tall stature is likely to represent the natural variation seen in patients with transcription factor disorders.

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

    PubMed

    Battaglia, A; Orsitto, E; Gibilisco, G

    1996-03-29

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

  14. 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…

  15. 45,X/46,XY mosaicism: a cause of short stature in males.

    PubMed

    Efthymiadou, Alexandra; Stefanou, Eunice G; Chrysis, Dionisios

    2012-01-01

    45,X/46,XY mosaicism is associated with a broad spectrum of phenotypes ranging from apparently normal male development to individuals with incomplete sexual differentiation and clinical signs of Turner syndrome in both males and females. The most common presentation among individuals with a 45,X/46,XY karyotype is sexual ambiguity, accounting for approximately 60% of cases, while the least common category of 45,X/46,XY patients consists of those with bilaterally descended testes, found in 11-12%. We report on two patients with an apparently normal male phenotype and 45,X/46,XY mosaicism who were diagnosed postnatally because of short stature. Both of these boys presented at the age of 15 years with short stature, minor Turner-like stigmata, normal male external genitalia and spontaneous pubertal development. One of them had coarctaction of the aorta with bicuspid aortic valve, an uncommon clinical feature in boys with mosaicism. The same patient underwent a trial of GH replacement therapy with poor response and his sperm analysis revealed azoospermia. Like our patients, most mosaic 45,X/46,XY children with bilateral scrotal testes go unrecognised at birth and throughout childhood unless they have somatic features of Turner syndrome or significant growth retardation. We recommend that boys with otherwise unexplained short stature, being short for their families, should be karyotyped routinely as is recommended in short-stature girls. In addition, boys with 45,X/46,XY mosaicism require a thorough clinical evaluation similar to that performed in girls with Turner syndrome and must be routinely followed up for their potential to respond favorably to GH treatment and for late onset abnormalities, such as infertility and gonadal tumors.

  16. Psychological adaptation in children with idiopathic short stature treated with growth hormone or placebo.

    PubMed

    Ross, Judith L; Sandberg, David E; Rose, Susan R; Leschek, Ellen Werber; Baron, Jeffrey; Chipman, John J; Cassorla, Fernando G; Quigley, Charmian A; Crowe, Brenda J; Roberts, Kristen; Cutler, Gordon B

    2004-10-01

    The influence of short stature on psychological adaptation in childhood and adolescence is controversial. GH is currently used to treat children with idiopathic short stature (ISS, also known as non-GH-deficient short stature). This study represents the first double-blind, placebo-controlled trial of the effects of GH on the psychological adaptation of children and adolescents with ISS, treated with GH until adult height was attained.Sixty-eight children (53 males, 15 females), 9-16 yr old, with marked ISS (measured height or predicted adult height -2.5 sd or less) received either GH 0.074 mg/kg or placebo sc three times per week until height velocity decreased to less than 1.5 cm/yr. Parents completed the Child Behavior Checklist (CBCL) and children the Self-Perception Profile (SPP) and Silhouette Apperception Technique at baseline and annually thereafter. Baseline behavioral/emotional adjustment (CBCL) and self-concept (SPP) scores for children with ISS were within the normative range. The two study groups exhibited similar behavioral and self-concept profiles (CBCL) during the first 2 yr of the study. However, CBCL behavior problems (internalizing, externalizing, and total problems) appeared to decline, in yr 3 and 4, in the GH-treated group relative to the placebo-treated group. Group differences in CBCL competency domains and the SPP were not observed at any point during the study. Short stature among children with ISS enrolled in this long-term, placebo-controlled study was not associated with problems in psychological adaptation or self-concept with the psychological instruments employed. GH treatment was associated with a trend toward improvement in problem behaviors, as measured by questionnaires (CBCL) completed by study participants' parents. It remains to be determined whether GH treatment significantly impacts adaptation, psychosocial function, or quality of life in children with ISS.

  17. 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

  18. Hypogonadotropic Hypogonadism and Short Stature in Patients with Diabetes Due to Neurogenin 3 Deficiency

    PubMed Central

    Rubio-Cabezas, Oscar; Gómez, José Luis; Gleisner, Andrea; Hattersley, Andrew T.

    2016-01-01

    Context: Biallelic mutations in NEUROG3 are known to cause early-onset malabsorptive diarrhea due to congenital anendocrinosis and diabetes mellitus at a variable age. No other endocrine disorders have been described so far. We report four patients with homozygous NEUROG3 mutations who presented with short stature and failed to show any signs of pubertal development. Case Description: Four patients (two males, two females) were diagnosed with homozygous mutations in NEUROG3 on the basis of congenital malabsorptive diarrhea and diabetes. All four had severe short stature and failed to develop secondary sexual characteristics at an appropriate age, despite some having normal body mass index. The absence of gonadal function persisted into the third decade in one patient. Upon testing, both basal and stimulated LH and FSH levels were low, with the remaining pituitary hormones within the normal range. Magnetic resonance imaging scans of the hypothalamic-pituitary axis did not reveal structural abnormalities. A diagnosis of hypogonadotropic hypogonadism was made, and replacement therapy with sex hormones was started. Conclusions: The high reproducibility of this novel phenotype suggests that central hypogonadism and short stature are common findings in patients with mutations in NEUROG3. Growth rate needs to be carefully monitored in these patients, who also should be routinely screened for hypogonadism when they reach the appropriate age. NEUROG3 mutations expand on the growing number of genetic causes of acquired hypogonadotropic hypogonadism. PMID:27533310

  19. 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.

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

    PubMed Central

    Hwang, Jun-Won

    2015-01-01

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

  1. 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

  2. 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.

  3. Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations

    PubMed Central

    Kapoor, Seema; Ikegawa, Shiro; Nishimura, Gen

    2016-01-01

    Stickler syndrome or hereditary progressive arthroophthalmopathy is a heterogeneous group of collagen tissue disorders, characterized by orofacial features, ophthalmological features (high myopia, vitreoretinal degeneration, retinal detachment, and presenile cataracts), hearing impairment, mild spondyloepiphyseal dysplasia, and/or early onset arthritis. Stickler syndrome type I (ocular form) is caused by mutation in the COL2A1 gene. Ptosis and uveitis are relatively rare ophthalmological manifestations of this syndrome. We report an Indian boy having 2710C>T mutation in COL2A1 gene demonstrating short stature, ptosis, and uveitis with Stickler syndrome. PMID:28018693

  4. Adult height in children with short stature and idiopathic delayed puberty after different management.

    PubMed

    Zucchini, Stefano; Wasniewska, Malgorzata; Cisternino, Mariangela; Salerno, Mariacarolina; Iughetti, Lorenzo; Maghnie, Mohamad; Street, Maria Elisabeth; Caruso-Nicoletti, Manuela; Cianfarani, Stefano

    2008-06-01

    By retrospectively collecting data from nine Italian centres of pediatric endocrinology, we assessed the different management and final outcome of children with short stature and idiopathic delayed puberty. Data were obtained in 77 patients (54 males, 23 females) diagnosed and followed-up in the various centres during the last 15 years. Inclusion criteria were short stature at initial observation and idiopathic delayed puberty diagnosed during follow-up. At first observation, age was 13.8 +/- 1.0 years and height standard deviation score (SDS) was -2.6 +/- 0.6 in males. In females age was 13.1 +/- 0.9 years and height SDS -2.6 +/- 0.4. Local diagnostic and therapeutic protocols included testing for growth-hormone deficiency (six centres) and treatment in case of deficiency or, in the remaining centres, testosterone or no treatment in males, and no treatment in females. At diagnosis, both in males and in females, the auxological features (height SDS, target height SDS and bone age delay) were similar in the patients treated with growth hormone, testosterone or not treated. Overall 32 patients received growth hormone (25 males, 7 females), 33 no treatment (17 males, 16 females) and 12 testosterone. There was no difference in the adult height of males and females in the different treatment groups. In males there were no differences between adult and target height SDSs (growth hormone-treated 0.31 +/- 0.79, untreated 0.10 +/- 0.82, testosterone-treated 0.05 +/- 0.95), between adult and initial height SDSs (growth hormone-treated 1.70 +/- 0.93, untreated 1.55 +/- 0.92, testosterone-treated 1.53 +/- 1.43) and percentage of subjects with adult height above target height. In females, there were no differences between adult and target height SDSs (growth hormone-treated -0.49 +/- 1.13; untreated 0.10 +/- 0.97) and between adult and initial height SDSs (growth hormone-treated 1.76 +/- 0.92; untreated 1.77 +/- 0.98), whereas a significantly higher percentage of patients

  5. [Bilateral simultaneous limb lengthening of patients with short stature using the Ilizarov method].

    PubMed

    Tesiorowski, Maciej; Zarzycka, Maja; Kacki, Wojciech; Jasiewicz, Barbara

    2002-01-01

    Limb lengthening of patients with short stature is a complex orthopaedic problem. In these cases treatment is a long-term, multistage procedure. This paper presents the results of lower limb lengthening using the Ilizarov technique. The material consists of 5 cases, in which 10 stages of bilateral simultaneous lengthening of the femur and opposite tibia were performed. Follow-up was on average 3.1 years. Problems, obstacles and complications were typical for limb lengthening procedures and did not differ from the results presented by other authors. Success of treatment depends on the patient's full co-operation, adequate motivation and knowledge of the principles of therapy.

  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. Definition and subcategorization of idiopathic short stature: between consensus and controversy.

    PubMed

    Wit, Jan M

    2011-01-01

    Although various expert and consensus meetings have been held, there remains uncertainty about the definition of idiopathic short stature (ISS) and its subgroups. In this short review, the hypothetical pathophysiology, diagnosis and subcategorization of ISS are discussed. ISS in childhood may be the result of a combination of variants of three groups of genes: (1) single genes (or combinations of a few single genes) of which mutations, deletions or duplications are associated with a relatively large negative effect on height; (2) genes of which relatively frequently occurring polymorphisms are associated with a small negative effect on height; and (3) genes associated with delayed maturation of the epiphyseal plate. Differentiation between ISS and short children born small for gestational age and those with dysmorphic syndromes, systemic diseases or growth hormone deficiency and resistance can be difficult. Subcategorization based on distance to target height and onset of puberty is arbitrary, but useful.

  9. Recognition of children with psychosocial short stature: a spectrum of presentation.

    PubMed

    Gohlke, B C; Khadilkar, V V; Skuse, D; Stanhope, R

    1998-01-01

    We describe 65 children (32F, 33M) with psychosocial short stature from 51 families. Average age was 6.6 years (range 0.9-16.5) and all but five were prepubertal. 67% of the patients lived in families with three or more children, but in 73% of cases the patient was the first or the second born child. 45% of the parents were divorced and in 31% of the families the father was unemployed. In 56 children, the birth weight was known and in only 29% was it above 3000 g; 21% were premature, 29% had features of low birth-weight syndrome (including four with Russell-Silver syndrome). Average birth weight was 2786 g (range 1650-4676). In all patients, the predominant reason for referral was growth failure. In 28% an environmental aetiology was suspected and in a further 29%, social or emotional problems were known to the referring physician but not suspected as the aetiology of the growth failure, despite social services involvement in 60% at the referral to our unit. At initial presentation in our clinic, we found additional features leading to the suspicion of psychosocial short stature; 54% abnormal eating pattern, 42% behaviour problems, 26% encopresis, 18% nocturnal enuresis and 12% inappropriate urination. During the observation period of a mean of 3.7 years, 27 (41%) of our patients were found to have been sexually or physically abused. In these 27 children hyperphagia, bizarre eating habits, behaviour problems, soiling and nocturnal enuresis were more common.

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

    PubMed

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

    2015-03-01

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

  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.

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

    PubMed Central

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

    2012-01-01

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

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

    PubMed Central

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

    2014-01-01

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

  15. Complications of Ilizarov leg lengthening: a comparative study between patients with leg length discrepancy and short stature.

    PubMed

    Vargas Barreto, B; Caton, J; Merabet, Z; Panisset, J C; Pracros, J P

    2007-10-01

    The Ilizarov technique has been used to treat severe limb length discrepancy and short stature. However, complications of this treatment are frequent. Between 1984 and 2001, 57 patients (94 tibias) had an Ilizarov procedure for limb lengthening. Twenty patients had limb discrepancy and 37 had short stature. Their mean age was 20.2 years (range 15-34). The average limb lengthening was 8.37 cm (range 3.2-14.7), which was equivalent to 26% (range 9.2-60%) average tibial lengthening. A total of 90 complications were observed. Thirty-three unplanned procedures were required during the lengthening programme. Two patients stopped the lengthening programme. There was no difference in the complications in leg lengthening using Ilizarov technique between the group of patients with leg length discrepancy and the group with short stature. A good knowledge of the Ilizarov technique is necessary to perform a lengthening programme with a low rate of complications.

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

    PubMed Central

    2014-01-01

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

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

    PubMed

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

    2012-12-01

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

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

    PubMed

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

    1996-10-01

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

  19. 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.

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

    PubMed Central

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

    2013-01-01

    have an inadequate GH reserve to GHRH-arg and may be functionally GH deficient. The short stature reported in ALMS may be at least partially influenced by impairment of GH secretion. PMID:23445176

  1. Treatment of idiopathic short stature: effects of gonadotropin-releasing hormone analogs, aromatase inhibitors and anabolic steroids.

    PubMed

    Dunkel, Leo

    2011-01-01

    Modulation of sex steroid action on the growth plate can, at least theoretically, increase adult height in children and adolescents with idiopathic short stature. Gonadotropin-releasing hormone (GnRH) analog therapy during adolescence has been shown effective in a placebo-controlled study, but to obtain clinically significant increases in adult height, the treatment duration must be lengthy (several years). Furthermore, such treatment seems to compromise bone health and, because of the resulting delay in pubertal development, likely has psychosocial consequences. Therefore, GnRH analogs are no longer recommended to augment height in adolescents with short stature and normally timed puberty. Aromatase inhibitors are probably more effective than GnRH analogs in promoting increased adult height in children with short stature and, unlike GnRH analogs, do not delay pubertal development in males. However, due to a dearth of safety data with aromatase inhibitors for the treatment of short stature, their use outside a research setting is currently not recommended. Positive effects of anabolic steroids on adult height have not been documented.

  2. 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

  3. An intragenic deletion within CTNNA2 intron 7 in a boy with short stature and speech delay: A case report

    PubMed Central

    Paganelli, Valeria; Giordano, Mara; Meazza, Cristina; Schena, Lucia; Bozzola, Mauro

    2017-01-01

    Background/Objectives: Deletions on the short arm of chromosome 2 at bands p11 and p12 have been detected in association with short stature, mild mental retardation and speech delay. Results: We describe a 4 year-old boy with some facial dysmorphic traits, congenital malformations and pre- and post-natal growth failure. He also presented marked expressive language problems. The molecular karyotype revealed a 108 Kb deletion within the seventh intron of the CTNNA2 gene at 2p11.2-p12. We observed that some features (short stature, facial dysmorphisms and speech delay) were present in our patient and in patients carrying much larger overlapping deletions. Conclusions: The description of this small intragenic rearrangement might help to elucidate the role of the single genes included in the 2p11.2-p12 critical region. PMID:28250917

  4. 7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly.

    PubMed

    Shimojima, Keiko; Narai, Satoshi; Togawa, Masami; Doumoto, Tomotsune; Sangu, Noriko; Vanakker, Olivier M; de Paepe, Anne; Edwards, Matthew; Whitehall, John; Brescianini, Sally; Petit, Florence; Andrieux, Joris; Yamamoto, Toshiyuki

    2016-10-01

    There are no published reports of patients harboring microdeletions involving the 7p22.1 region. Although 7p22.1 microdeletions are rare, some reports have shown microduplications encompassing this region. In this study, we report five patients with overlapping deletions of the 7p22.1 region. The patients exhibited clinical similarities including non-specific developmental delay, short stature, microcephaly, and other distinctive features. The shortest region of overlap within the 7p22.1 region includes five genes, FBXL18, ACTB, FSCN1, RNF216, and ZNF815P. Of these genes, only ACTB is known to be associated with an autosomal dominant trait. Dominant negative mutations in ACTB are responsible for Baraitser-Winter syndrome 1. We analyzed ACTB expression in immortalized lymphocytes derived from one of the patients and found that it was reduced to approximately half that observed in controls. This indicates that ACTB expression is linearly correlated with the gene copy number. We suggest that haploinsufficiency of ACTB may be responsible for the clinical features of patients with 7p22.1 microdeletions.

  5. Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: a new syndrome?

    PubMed

    Isidor, Bertrand; Le Meur, Guylène; Conti, Carole; Caldagues, Emmanuelle; Lainey, Elodie; Launay, Elise; Leclair, Marc David; Le Francois, Thomas; Pichon, Olivier; Boisseau, Pierre; Migraine, Audrey; Keren, Boris; Le Caignec, Cédric; Crow, Yanick J; David, Albert

    2013-08-01

    The association of Coats disease with intrauterine growth retardation, intracranial calcification, leukodystrophy, brain cysts, osteopenia, and gastrointestinal bleeding defines Coats plus syndrome caused by mutations in the CTC1 gene, encoding conserved telomere maintenance component 1. Here, we report on a child with exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly, and short stature, in whom no mutations in CTC1 were found. Our patient shares some features seen in other diseases associated with telomere shortening including Hoyeraal-Hreidarsson and Revesz syndromes. We therefore measured telomere length by Flow-Fish which was normal. The association of duodenal atresia and microcephaly also suggested a diagnosis of Feingold syndrome. However, direct sequencing of MYCN was normal, and we did not detect any hemizygous deletion of the miR-17∼92 polycistronic miRNA cluster. To our knowledge, the phenotype we report on has not been described previously, leading us to speculate that this condition may represent a new syndrome.

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

    PubMed

    Hardin, Dana S

    2008-12-01

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

  7. A Rare Cause of Short Stature: 3M Syndrome in a Patient with Novel Mutation in OBSL1 Gene

    PubMed Central

    Keskin, Melikşah; Muratoğlu Şahin, Nursel; Kurnaz, Erdal; Bayramoğlu, Elvan; Savaş Erdeve, Şenay; Aycan, Zehra; Çetinkaya, Semra

    2017-01-01

    The Miller-McKusick-Malvaux (3M) syndrome is a rare autosomal disorder that can lead to short stature, dysmorphic features, and skeletal abnormalities with normal intelligence. A 16-month-old female patient had been referred to our clinic due to short stature. Case history revealed a birth weight of 1740 grams on the 39th week of gestation, with a birth length of 42 cm and no prior hereditary conditions of clinical significance in her family. On physical examination, her length was 67 cm [-3.6 standard deviation (SD) score], weight 7.2 kg (-2.9 SD score), and head circumference 42 cm (below 3rd percentile). She also had numerous characteristic physical features such as a triangular face, fleshy nose tip, a long philtrum, prominent mouth and lips, pointed chin, lumbar lordosis, and prominent heels. As her growth retardation had a prenatal onset and the physical examination results were suggestive of a characteristic profile, the diagnosis of 3M syndrome was strongly considered. Genetic assessment of the patient revealed a novel homozygous p.T45Nfs*40 mutation in the OBSL1 gene. It is recommended that physicians pay further attention to this condition in the differential diagnosis of children with severe short stature. PMID:27796265

  8. Variation in Methods of Predicting Adult Height in Children with Idiopathic Short Stature

    PubMed Central

    Topor, Lisa Swartz; Feldman, Henry A.; Bauchner, Howard; Cohen, Laurie E.

    2013-01-01

    Objective Recombinant human growth hormone (GH) is approved for treatment of children with idiopathic short stature (ISS). Endocrinologists often depend on algorithms to predict adult height. As algorithm performance is often included in treatment decision, we sought to evaluate agreement among height prediction formulas. Methods We identified 3 commonly used algorithms for height prediction: Bayley-Pinneau (BP), Roche-Wainer-Thissen (RWT), and Khamis-Roche (KR). We constructed simulated samples of children with typical distributions of ages, heights, weights, bone ages, and parental heights seen in patients with ISS, and applied the algorithms to the simulated children to determine if predicted adult height was <160 cm for boys or <150 cm for girls, the 1.2nd height percentiles for adults. Results We found substantial disagreement amongst algorithms in the percentage of simulated children with predicted adult height < 1.2nd percentile, a cut-off that may influence GH treatment decisions. Using the BP formula, 43% of boys and 81% of girls had predicted adult height below this threshold, whereas only 3% of boys and 0.2% of girls had predicted heights < 1.2nd percentile using the KR method. RWT predictions fell in between. Overall agreement of the methods was poor (kappa = 0.21) in boys and negative in girls. Conclusions Wide variation exists among formulas used to predict adult height. As these algorithms may be used in decisions about whether to initiate GH treatment and to assess GH’s efficacy in research trials, it is important for parents, pediatricians, and investigators to recognize the considerable variation involved in height prediction. PMID:20974789

  9. The Impact of Short Stature on HRQoL in Children with Chronic Kidney Disease

    PubMed Central

    Al-Uzri, Amira; Matheson, Matthew; Gipson, Debbie S.; Mendley, Susan R.; Hooper, Stephen R.; Yadin, Ora; Rozansky, David; Moxey-Mims, Marva; Furth, Susan L.; Warady, Bradley A.; Gerson, Arlene C

    2013-01-01

    Objectives To compare the health-related quality of life (HRQoL) of children with CKD and short stature (SS) to children with CKD and normal height (NH), to evaluate the impact of catch up growth and growth hormone use on HRQoL, and to describe the concordance of perceptions of HRQoL between children with SS and NH and their parents. Study design 483 children and/or parents enrolled in the multicenter CKiD study and had completed the Pediatric Quality of Life Inventory (PedsQL, V4.0) on at least two CKiD study visits comprised this sub-study population. Participants were dichotomized into NH or SS groups. The demographic characteristics that varied at baseline (sex, GFR and parent education) were controlled for in the main analysis evaluating the impact of catch up growth and use of growth hormone on HRQoL. Results Multivariate modeling (controlling for confounding variables) revealed a significant association between both catch up growth and growth hormone usage on parent-proxy reports of child physical functioning (p<.05) and social functioning (p<.05). Older children with CKD (15 to 17 years old) had significantly higher ratings than their parents on PedsQL Physical, Emotional, Social and School Functioning scales compared with younger children (8–14 years old). Conclusion The finding that height gains and growth hormone use are associated with increases in physical and social functioning by parent report provides additional support for interventions to improve height in children with CKD. The importance of evaluating both the parent and child perceptions of HRQoL is supported by our results. PMID:23628375

  10. 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.

  11. Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature

    PubMed Central

    Benito-Sanz, Sara; Aza-Carmona, Miriam; Rodríguez-Estevez, Amaya; Rica-Etxebarria, Ixaso; Gracia, Ricardo; Campos-Barros, Ángel; Heath, Karen E

    2012-01-01

    Short stature homeobox-containing gene, MIM 312865 (SHOX) is located within the pseudoautosomal region 1 (PAR1) of the sex chromosomes. Mutations in SHOX or its downstream transcriptional regulatory elements represent the underlying molecular defect in ∼60% of Léri-Weill dyschondrosteosis (LWD) and ∼5–15% of idiopathic short stature (ISS) patients. Recently, three novel enhancer elements have been identified upstream of SHOX but to date, no PAR1 deletions upstream of SHOX have been observed that only encompass these enhancers in LWD or ISS patients. We set out to search for genetic alterations of the upstream SHOX regulatory elements in 63 LWD and 100 ISS patients with no known alteration in SHOX or the downstream enhancer regions using a specifically designed MLPA assay, which covers the PAR1 upstream of SHOX. An upstream SHOX deletion was identified in an ISS proband and her affected father. The deletion was confirmed and delimited by array-CGH, to extend ∼286 kb. The deletion included two of the upstream SHOX enhancers without affecting SHOX. The 13.3-year-old proband had proportionate short stature with normal GH and IGF-I levels. In conclusion, we have identified the first PAR1 deletion encompassing only the upstream SHOX transcription regulatory elements in a family with ISS. The loss of these elements may result in SHOX haploinsufficiency because of decreased SHOX transcription. Therefore, this upstream region should be included in the routine analysis of PAR1 in patients with LWD, LMD and ISS. PMID:22071895

  12. Dentinogenesis imperfecta associated with short stature, hearing loss and mental retardation: a new syndrome with autosomal recessive inheritance?

    PubMed

    Cauwels, R G E C; De Coster, P J; Mortier, G R; Marks, L A M; Martens, L C

    2005-08-01

    The follow-up history and oral findings in two brothers from consanguineous parents suggest that the association of dentinogenesis imperfecta (DI), delayed tooth eruption, mild mental retardation, proportionate short stature, sensorineural hearing loss and dysmorphic facies may represent a new syndrome with autosomal recessive inheritance. Histological examination of the dentin matrix of a permanent molar from one of the siblings reveals morphological similarities with defective dentinogenesis as presenting in patients affected with Osteogenesis Imperfecta (OI), a condition caused by deficiency of type I collagen. A number of radiographic and histological characteristics, however, are inconsistent with classical features of DI. These findings suggest that DI may imply greater genetical heterogeneity than currently assumed.

  13. Short stature, type E brachydactyly, exostoses, gynecomastia, and cryptorchidism in a patient with 47,XYY/45,X/46,XY mosaicism.

    PubMed

    Monastirli, Alexandra; Stephanou, Georgia; Georgiou, Sophia; Andrianopoulos, Constantinos; Pasmatzi, Efi; Chroni, Elizabeth; Katrivanou, Aggeliki; Dimopoulos, Panagiotis; Demopoulos, Nikos A; Tsambaos, Dionysios

    2005-04-01

    We report a 72-year-old male patient with a 47,XYY/45,X/46,XY mosaicism associated with short stature, exostoses, type E brachydactyly, gynecomastia, cryptorchidism, mild mental retardation, and a paranoid personality and conversion disorder. Since his prevalent cell line was 47,XYY (about 75%), our patient could be karyotypically classified as a case of 47,XYY syndrome. In view of the striking similarity of the clinical features of this case and those of a XYY case previously reported by Ikegawa et al (1992), it seems reasonable to suggest that these patients are representatives of a novel syndrome with a XYY karyotype.

  14. De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature.

    PubMed

    Perrone, M D; Rocca, M S; Bruno, I; Faletra, F; Pecile, V; Gasparini, P

    2012-02-01

    Patients with distal deletions of chromosome 1q have a recognizable syndrome that includes microcephaly, hypoplasia or agenesis of the corpus callosum, and psychomotor retardation. Although these symptoms have been attributed to deletions of 1q42-1q44, the minimal chromosomal region involved has not yet defined. In this report, we describe a 7 years old male with mental retardation, cryptorchid testes, short stature and alopecia carrying only an interstitial de novo deletion of 911 Kb in the 1q43 region (239,597,095-240,508,817) encompassing three genes CHRM3, RPS7P5 and FMN2.

  15. A case of anemia caused by combined vitamin B12 and iron deficiency manifesting as short stature and delayed puberty.

    PubMed

    Song, Seung Min; Bae, Keun Wook; Yoon, Hoi-Soo; Im, Ho Joon; Seo, Jong-Jin

    2010-05-01

    Anemia caused by vitamin B12 deficiency resulting from inadequate dietary intake is rare in children in the modern era because of improvements in nutritional status. However, such anemia can be caused by decreased ingestion or impaired absorption and/or utilization of vitamin B12. We report the case of an 18-year-old man with short stature, prepubertal sexual maturation, exertional dyspnea, and severe anemia with a hemoglobin level of 3.3 g/dL. He had a history of small bowel resection from 50 cm below the Treitz ligament to 5 cm above the ileocecal valve necessitated by midgut volvulus in the neonatal period. Laboratory tests showed deficiencies of both vitamin B12 and iron. A bone marrow examination revealed dyserythropoiesis and low levels of hemosiderin particles, and a cytogenetic study disclosed a normal karyotype. After treatment with parenteral vitamin B12 and elemental iron, both anemia and growth showed gradual improvement. This is a rare case that presented with short stature and delayed puberty caused by nutritional deficiency anemia in Korea.

  16. 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.

  17. Maternal short stature does not predict their children's fatness indicators in a nutritional dual-burden sample of urban Mexican Maya.

    PubMed

    Wilson, Hannah J; Dickinson, Federico; Griffiths, Paula L; Bogin, Barry; Hobbs, Matthew; Varela-Silva, M Inês

    2014-04-01

    The co-existence of very short stature due to poor chronic environment in early life and obesity is becoming a public health concern in rapidly transitioning populations with high levels of poverty. Individuals who have very short stature seem to be at an increased risk of obesity in times of relative caloric abundance. Increasing evidence shows that an individual is influenced by exposures in previous generations. This study assesses whether maternal poor early life environment predicts her child's adiposity using cross sectional design on Maya schoolchildren aged 7-9 and their mothers (n = 57 pairs). We compared maternal chronic early life environment (stature) with her child's adiposity (body mass index [BMI] z-score, waist circumference z-score, and percentage body fat) using multiple linear regression, controlling for the child's own environmental exposures (household sanitation and maternal parity). The research was performed in the south of Merida, Yucatan, Mexico, a low socioeconomic urban area in an upper middle income country. The Maya mothers were very short, with a mean stature of 147 cm. The children had fairly high adiposity levels, with BMI and waist circumference z-scores above the reference median. Maternal stature did not significantly predict any child adiposity indicator. There does not appear to be an intergenerational component of maternal early life chronic under-nutrition on her child's obesity risk within this free living population living in poverty. These results suggest that the co-existence of very short stature and obesity appears to be primarily due to exposures and experiences within a generation rather than across generations.

  18. Mental retardation, short stature, minor skeletal anomalies, craniofacial dysmorphism and macrodontia in two sisters and their mother. Another variant example of the KBG syndrome?

    PubMed

    Fryns, J P; Haspeslagh, M

    1984-07-01

    Mental retardation associated with short stature, craniofacial dysmorphism, macrodontia and minor skeletal anomalies is reported in two sisters and their mother. The similarity with and the relationship to the KBG syndrome is discussed and the importance of clinical syndrome identification in familial mental retardation is emphasised.

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

    PubMed

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

    2015-01-01

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

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

    PubMed

    Han, Xue; Xiu, Jianjun; Huang, Zhaoqin; Zhang, Jie; Zhang, Zhonghe; Dong, Yin; Yuan, Xianshun; Liu, Qingwei

    2014-08-01

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

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

    PubMed

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

    2013-10-01

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

  2. Baseline Body Composition in Prepubertal Short Stature Children with Severe and Moderate Growth Hormone Deficiency

    PubMed Central

    Klesiewicz, Marta

    2016-01-01

    Objective. To compare body composition parameters in short children with severe versus moderate and no growth hormone deficiency (GHD). Design and Method. 61 children (40 boys) were studied. Height SDS, BMI Z-score, waist/height ratio (W/HtR), and body composition parameters (BIA) as fat tissue (FAT%), fat-free mass (FFM%), predicted muscle mass (PMM%), and total body water (TBW%) were evaluated. GH secretion in the overnight profile and two stimulation tests and insulin-like growth factor 1 (IGF-1) level were measured. Results. Overall, in 16 (26%) moderate (7.0 > peak GH < 10 ng/mL) and in 11 (18%) severe (GH ≤ 7.0 ng/mL) GHD was diagnosed. In children with sGHD BMI Z-score, W/HtR and FAT% were significantly higher, while FFM%, PMM%, and TBW% were significantly lower versus mGHD and versus noGHD subgroups. No significant differences between mGHD and noGHD were found. There were no differences in height SDS and IGF-1 SDS between evaluated subgroups. Night GH peak level correlated significantly with FAT%, FFM%, PMM%, and TBW%, (p < 0.05) in the entire group. Conclusions. Only sGHD is associated with significant impairment of body composition. Body composition analysis may be a useful tool in distinguishing between its severe and moderate form of GHD. PMID:27656208

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

    PubMed Central

    Visser – van Balen, Hanneke; Geenen, Rinie; Kamp, Gerdine A; Huisman, Jaap; Wit, Jan M; Sinnema, Gerben

    2005-01-01

    Background Growth-enhancing hormone treatment is considered a possible intervention in short but otherwise healthy adolescents. Although height gain is an obvious measure for evaluating hormone treatment, this may not be the ultimate goal for the person, but rather a means to reach other goals such as the amelioration of current height-related psychosocial problems or the enhancement of future prospects in life and society. The aim of our study was to clarify the motives of adolescents and their parents when choosing to participate in a growth-enhancing trial combining growth hormone and puberty-delaying hormone treatment. Methods Participants were early pubertal adolescents (25 girls, 13 boys) aged from 11 to 13 years (mean age 11.5 years) with a height standard deviation score (SDS) ranging from -1.03 to -3.43. All had been classified as idiopathic short stature or persistent short stature born small for the gestational age (intrauterine growth retardation) on the basis of a height SDS below -2, or had a height SDS between -1 and -2 and a predicted adult height SDS below -2. The adolescents and their parents completed questionnaires and a structured interview on the presence of height-related stressors, parental worries about their child's behavior and future prospects, problems in psychosocial functioning, and treatment expectations. Questionnaire scores were compared to norms of the general Dutch population. Results The adolescents reported normal psychosocial functioning and highly positive expectations of the treatment in terms of height gain, whereas the parents reported that their children encountered some behavioral problems (being anxious/depressed, and social and attention problems) and height-related stressors (being teased and juvenilized). About 40% of the parents were worried about their children's future prospects for finding a spouse or job. The motives of the adolescents and their parents exhibited rather different profiles. The most prevalent

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

    PubMed Central

    2013-01-01

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

  5. Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.

    PubMed

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

    2005-11-01

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

  6. PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features.

    PubMed

    Low, Karen J; Ansari, Morad; Abou Jamra, Rami; Clarke, Angus; El Chehadeh, Salima; FitzPatrick, David R; Greenslade, Mark; Henderson, Alex; Hurst, Jane; Keller, Kory; Kuentz, Paul; Prescott, Trine; Roessler, Franziska; Selmer, Kaja K; Schneider, Michael C; Stewart, Fiona; Tatton-Brown, Katrina; Thevenon, Julien; Vigeland, Magnus D; Vogt, Julie; Willems, Marjolaine; Zonana, Jonathan; Study, D D D; Smithson, Sarah F

    2017-03-22

    PUF60 encodes a nucleic acid-binding protein, a component of multimeric complexes regulating RNA splicing and transcription. In 2013, patients with microdeletions of chromosome 8q24.3 including PUF60 were found to have developmental delay, microcephaly, craniofacial, renal and cardiac defects. Very similar phenotypes have been described in six patients with variants in PUF60, suggesting that it underlies the syndrome. We report 12 additional patients with PUF60 variants who were ascertained using exome sequencing: six through the Deciphering Developmental Disorders Study and six through similar projects. Detailed phenotypic analysis of all patients was undertaken. All 12 patients had de novo heterozygous PUF60 variants on exome analysis, each confirmed by Sanger sequencing: four frameshift variants resulting in premature stop codons, three missense variants that clustered within the RNA recognition motif of PUF60 and five essential splice-site (ESS) variant. Analysis of cDNA from a fibroblast cell line derived from one of the patients with an ESS variants revealed aberrant splicing. The consistent feature was developmental delay and most patients had short stature. The phenotypic variability was striking; however, we observed similarities including spinal segmentation anomalies, congenital heart disease, ocular colobomata, hand anomalies and (in two patients) unilateral renal agenesis/horseshoe kidney. Characteristic facial features included micrognathia, a thin upper lip and long philtrum, narrow almond-shaped palpebral fissures, synophrys, flared eyebrows and facial hypertrichosis. Heterozygote loss-of-function variants in PUF60 cause a phenotype comprising growth/developmental delay and craniofacial, cardiac, renal, ocular and spinal anomalies, adding to disorders of human development resulting from aberrant RNA processing/spliceosomal function.European Journal of Human Genetics advance online publication, 22 March 2017; doi:10.1038/ejhg.2017.27.

  7. Constitutional Delay Influences the Auxological Response to Growth Hormone Treatment in Children with Short Stature and Growth Hormone Sufficiency

    PubMed Central

    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

  8. Hypotonia

    MedlinePlus

    ... Strategy Current Research Research Funded by NINDS Basic Neuroscience Clinical Research Translational Research Research at NINDS Focus ... Information Current Research Research Funded by NINDS Basic Neuroscience Clinical Research Translational Research Research at NINDS Focus ...

  9. 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 ...

  10. Short stature in a mother and daughter caused by familial der(X)t(X;X)(p22.1-3;q26).

    PubMed

    Reinehr, T; Jauch, A; Zoll, B; Engel, U; Bartels, I; Andler, W

    2001-07-22

    Deletions of the terminal Xp regions, including the short-stature homeobox (SHOX) gene, were described in families with hereditary Turner syndrome and Léri-Weill syndrome. We report on a 10-2/12-year-old girl and her 37-year-old mother with short stature and no other phenotypic symptoms. In the daugther, additional chromosome material was detected in the pseudoautosomal region of one X chromosome (46,X,add(Xp.22.3)) by chromosome banding analysis. The elongation of the X chromosome consisted of Giemsa dark and bright bands with a length one-fifth of the size of Xp. The karyotype of the mother demonstrated chromosome mosaicism with three cell lines (46,X,add(X)(p22.3) [89]; 45,X [8]; and 47,X,add(X)(p22.3), add(X)(p22.3) [2]). In both daughter and mother, fluorescence in situ hybridization (FISH), together with data from G banding, identified the breakpoints in Xp22.1-3 and Xq26, resulting in a partial trisomy of the terminal region of Xq (Xq26-qter) and a monosomy of the pseudoautosomal region (Xp22.3) with the SHOX gene and the proximal region Xp22.1-3, including the steroidsulfatase gene (STS) and the Kallmann syndrome region. The derivative X chromosome was defined as ish.der(X)t(X;X)(p22.1-3;q26)(yWXD2540-, F20cos-, STS-, 60C10-, 959D10-, 2771+, cos9++). In daughter and mother, the monosomy of region Xp22.1-3 is compatible with fertility and does not cause any other somatic stigmata of the Turner syndrome or Léri-Weill syndrome, except for short stature due to monosomy of the SHOX gene.

  11. Adult height in boys and girls with untreated short stature and constitutional delay of growth and puberty: accuracy of five different methods of height prediction.

    PubMed

    Brämswig, J H; Fasse, M; Holthoff, M L; von Lengerke, H J; von Petrykowski, W; Schellong, G

    1990-12-01

    To determine how accurately several methods of height prediction estimate adult height, we compared height predictions calculated by the Bayley-Pinneau, Roche-Wainer-Thissen (RWT), target height, and Tanner-Whitehouse Mark I (TW-MI), and Mark II (TW-MII) methods with final adult height in 37 boys and 32 girls with short stature and constitutional delay of growth and puberty. They were first seen at a chronologic age (mean +/- SD) of 14.80 +/- 1.70 years (boys) and 12.87 +/- 2.56 years (girls). Adult height at 23.14 +/- 1.95 years and 21.05 +/- 2.02 years was 170.4 +/- 5.4 cm (boys) and 157.8 +/- 4.2 cm (girls), respectively, and thus within the lower range of normal. Height predictions were calculated for the total group and for patients with parents of normal (group 1) as well as short stature (group 2). For boys, the RWT method gave very accurate results, underestimating adult height by -0.6 cm for the total group. The prediction errors for the other methods were -7.3 cm (TW-MI), -4.2 cm (TW-MII), and +3.1 cm (Bayley-Pinneau method) or +1.7 cm (target height). For girls, no method was superior in estimating adult height. The mean prediction error was -0.8 cm, -2.1 cm, and -1.8 cm with the Bayley-Pinneau, TW-MI, and TW-MII methods, respectively. In contrast, adult height was overpredicted by +2.3 cm and +1.2 cm with the RWT and target height methods. We conclude that patients with short stature and constitutional delay of growth and puberty reach an adult height in the lower range of normal. Height prediction methods differ with respect to their accuracy and their tendency to overestimate or underestimate adult height.

  12. A two year observation of the process of applying recombinant IGF-1 to treat short stature in children with primary IGF-1 deficiency -- case reports of 3 patients.

    PubMed

    Petriczko, Elżbieta; Wikiera, Beata; Horodnicka-Józwa, Anita; Marcinkiewicz, Katarzyna; Szmit-Domagalska, Justyna; Kędzia, Andrzej; Durzyńska, Julia; Broniarczyk, Justyna; Gabryelczyk, Bartosz; Noczyńska, Anna; Walczak, Mieczysław

    2011-01-01

    Growth deficiency is one of the most frequent causes of referral to Endocrinology Outpatient Clinic. IGF-1 (insulin-like growth factor 1) deficiency is one of the rarest causes of short stature. In 2009 in Poland a therapeutic programme was set up for children with severe primary IGF-1 deficiency. The authors present the data of three first polish patients qualified for the rhIGF-1 (recombinant human insulin-like growth factor 1) - mecasermin. The authors conclude that the treatment with rhIGF-1 significantly improves growth velocity in patients with IGF-1 deficiency. During two years of mecasermin treatment no serious side effects were noted.

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

    PubMed

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

    2014-06-01

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

  14. Molecular cytogenetic characterization of a non-robertsonian dicentric chromosome 14;19 identified in a girl with short stature and amenorrhea.

    PubMed

    Dutta, Usha R; Pidugu, Vijaya Kumar; Dalal, Ashwin

    2012-01-01

    We report a 16-year-old girl who presented with short stature and amenorrhea. Initially the cytogenetic analysis showed the presence of a mosaic non-Robertsonian dicentric chromosome involving chromosomes 14 and 19. Subsequent molecular cytogenetic analysis by fluorescence in situ hybridization (FISH) using whole chromosome paints, centromeric probes, as well as gene specific probes confirmed the dicentric nature of the derivative chromosome and indicated that the rearrangement involved the short arms of both of these chromosomes. Furthermore, we also determined that the chromosome 19p13.3 breakpoint occurred within the terminal 1 Mb region. This is the first report of a mosaic non-Robertsonian dicentric chromosome involving chromosomes 14 and 19 with the karyotype determined as 45,XX,dic(14;19)(p11.2;p13.3)[35]/46,XX[15], and we suggest that the chromosome rearrangement could be the cause of clinical phenotype.

  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.

  16. 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

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

    PubMed Central

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

    2015-01-01

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

  18. 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.

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

    PubMed Central

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

    1992-01-01

    Uniparental disomy for chromosome 7 has been described previously in two individuals with cystic fibrosis. Here, we 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. Images Figure 1 Figure 3 Figure 4 Figure 5 PMID:1463018

  20. Higher central fat and poor self-body image in short-stature overweight/obese women living in Brazilian shantytowns

    PubMed Central

    Florêncio, Telma Toledo; Cavalcante, Fabiana Albuquerque; Lins, Isabela Lopes; Clemente, Ana Grotti; Sawaya, Ana Lydia

    2016-01-01

    Background Short stature in adult life, a possible consequence of poor perinatal conditions, is associated with higher risk of mortality and social disabilities. We aimed to determine whether low-income, overweight/obese, short-stature (SS) women show alterations in body composition, self-body-image perception, and biochemical profile compared to their non-short (NS) counterparts. Methods A cross-sectional study was conducted with women living in shantytowns and mother or relatives to undernourished children treated in a center for recuperation and nutritional education. Inclusion criteria were: (1) age, 19–45 years; (2) stature < 152.3 cm or > 158.7 cm; and (3) body mass index > 25 kg/m2. Socioeconomic, anthropometric, biochemical, and body image data were collected. We analyzed 56 SS and 57 NS women. Results The SS group showed a higher waist-to-height ratio (WHtR) (mean: 0.63; standard deviation: 0.06 for SS and mean: 0.60; standard deviation: 0.07 for the NS group; p = 0.02), and, in the adjusted analysis, showed lower fat-free mass (Estimated Marginal Mean for the SS group: 45.7 kg 95% confidence intervals (CI) (45.2–46.2) and for the NS group: 46.9 kg 95% CI (46.4–47.4); p < 0.01) and higher fat mass (Estimated Marginal Mean for the SS group: 32.5 95% CI (31.9–33.0) and for the NS group: 31.4 kg 95% CI (30.9–31.9); p < 0.01). Body mass index was a better predictor of current self-body-image perception for NS women. The SS coefficient values were β = 0.141, SE = 0.059, and R2-Nagelkerke = 0.107, and the NS coefficients values were β = 0.307, SE = 0.058, and R2-Nagelkerke = 0.491 (Z = 2.006; p < 0.05). Considering the obese subgroup, six out of 32 (18.8%) SS women and 14 out of 33 (42.4%) NS women perceived themselves as obese (χ2 = 4.27; p = 0.03). This difference remained significant even after adjustment by age, schooling, and number of children (p = 0.04). Only the total thyroxin showed significant differences between groups, lower in SS women

  1. 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 Central

    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

    2015-01-01

    ABSTRACT 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

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

    PubMed Central

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

    2015-01-01

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

  3. Syndrome of short stature, widow's peak, ptosis, posteriorly angulated ears, and joint problems: exclusion of the Aarskog (FGD1) gene as a candidate gene.

    PubMed

    LaDine, B J; Simmons, J A; Shrimpton, A E; Hoo, J J

    2001-03-15

    A syndrome encompassing postnatal onset of short stature, widow's peak, ptosis, posteriorly angulated ears, and limitation of forearm supination is reported in a boy and his mother. The boy has not yet experienced dislocation of patella or other joint anomaly except for limitation of supination of the forearms. On the other hand, the mother has a milder limitation of supination only on the left arm and is devoid of ptosis. Their condition is reminiscent of that described in the family reported by Kapur et al. [1989: Am. J. Med. Genet. 33: 357-363.], which showed an X-linked dominant mode of inheritance. DNA study on our family using an intragenic polymorphism of the Aarskog syndrome (FGD1) gene and four other adjacent markers convincingly excludes the possibility that their condition could be caused by a mutation of the FGD1 gene. Our family and the family reported by Kapur et al. may suggest segregation of a novel X-linked dominant condition.

  4. SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid.

    PubMed

    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

    2013-12-05

    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.

  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.

  6. 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.

  7. Expression of the short stature homeobox gene Shox is restricted by proximal and distal signals in chick limb buds and affects the length of skeletal elements.

    PubMed

    Tiecke, Eva; Bangs, Fiona; Blaschke, Rudiger; Farrell, Elizabeth R; Rappold, Gudrun; Tickle, Cheryll

    2006-10-15

    SHOX is a homeobox-containing gene, highly conserved among species as diverse as fish, chicken and humans. SHOX gene mutations have been shown to cause idiopathic short stature and skeletal malformations frequently observed in human patients with Turner, Leri-Weill and Langer syndromes. We cloned the chicken orthologue of SHOX, studied its expression pattern and compared this with expression of the highly related Shox2. Shox is expressed in central regions of early chick limb buds and proximal two thirds of later limbs, whereas Shox2 is expressed more posteriorly in the proximal third of the limb bud. Shox expression is inhibited distally by signals from the apical ectodermal ridge, both Fgfs and Bmps, and proximally by retinoic acid signaling. We tested Shox functions by overexpression in embryos and micromass cultures. Shox-infected chick limbs had normal proximo-distal patterning but the length of skeletal elements was consistently increased. Primary chick limb bud cell cultures infected with Shox showed an initial increase in cartilage nodules but these did not enlarge. These results fit well with the proposed role of Shox in cartilage and bone differentiation and suggest chick embryos as a useful model to study further the role of Shox in limb development.

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

    PubMed

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

    2002-01-01

    A 46,X,r(X) karyotype was found in a three and a half year old girl with short stature, facial dysmorphism and developmental delay. The clinical findings were consistent with the phenotype described in a limited number of patients with small ring X chromosomes lacking the XIST locus, a critical player in the process of X chromosome inactivation. Surprisingly, in our patient, fluorescent in situ hybridisation demonstrated that the XIST locus was present on the ring X. However, expression studies showed that there was no XIST transcript in peripheral blood cells, suggesting that the ring X had not been inactivated. This was confirmed by the demonstration that both of the patient's alleles for the androgen receptor gene were unmethylated, and that both of the patient's ZXDA alleles were expressed. The active nature of the ring X would presumably result in overexpression of genes that may account for the developmental delay observed for the patient. Using polymorphic markers along the X chromosome, the ring X was determined to be of paternal origin with one breakpoint in the long arm between DXS8037 and XIST and one in the short arm in Xp11.2 between DXS1126 and DXS991. To attempt to determine why the XIST gene failed to be expressed, the promoter region was sequenced and found to have a base change at the same location as a variant previously associated with nonrandom X chromosome inactivation. This mutation was not seen in over one hundred normal X chromosomes examined; however, it was observed in the paternal grandmother who did not show substantial skewing of X chromosome inactivation.

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

    PubMed

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

    2015-09-08

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

  10. 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.

  11. Duplication of the Xq27.3-q28 region, including the FMR1 gene, in an X-linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome.

    PubMed

    Hickey, Scott E; Walters-Sen, Lauren; Mosher, Theresa Mihalic; Pfau, Ruthann B; Pyatt, Robert; Snyder, Pamela J; Sotos, Juan F; Prior, Thomas W

    2013-09-01

    In 1979 a "new" syndrome characterized by X-linked inheritance, hypogonadism, gynecomastia, intellectual disability, obesity, and short stature was described. The now-36-year-old propositus was recently referred to the genetics clinic for profound intellectual disability. Fragile X testing initially demonstrated a duplication of the FMR1 region, and upon further testing we identified an Xq27.3-q28 8.05 Mb-long duplication responsible for a syndrome. Our report describes the molecular and clinical aspects of the X-linked syndrome. Our results suggest that male patients with intellectual disability, hypogonadism, short stature, and gynecomastia should be further investigated for rearrangements in the Xq27.3-q28 region. In the future, when more cases of the duplication are identified, it may become possible to more accurately determine the specific genes affected by overexpression and responsible for the phenotype.

  12. Metabolic co-morbidities revealed in patients with childhood-onset adult GH deficiency after cessation of GH replacement therapy for short stature.

    PubMed

    Fukuda, Izumi; Hizuka, Naomi; Yasumoto, Kumiko; Morita, Junko; Kurimoto, Makiko; Takano, Kazue

    2008-12-01

    GH therapy was approved in 2006 for treatment of adult growth hormone deficiency (GHD) in Japan. Until then, GH was used only to treat short stature in children with GHD and the treatment was stopped when the final height was reached. In the present study, we investigated metabolic co-morbidities experienced by adults with childhood-onset (CO) GHD after the cessation of GH. Forty-two patients with COGHD (M/F 22/20, age at follow up when the retrospective analysis was carried out: 18-52 yr) treated with GH in childhood were studied. We reviewed the medical records of these patients to determine the metabolic co-morbidities that developed after cessation of GH. The median age was 19 yrs (range: 14-38) at cessation of GH, and the following co-morbidities were observed: hypertriglyceridemia in 15 (41%) patients, non-alcoholic fatty liver disease (NAFLD) in 11 (29%) patients, hypercholesterolemia in 10 (26%) patients, diabetes mellitus (DM) in 4 (10%) patients, and hypertension in 1 (2.4%) patient. The median BMI when these complications became overt was 23.5 kg/m(2) for those with hypertriglyceridemia, 26.0 kg/m(2) for those with NAFLD, 20.9 kg/m(2) for those with hypercholesterolemia, and 27.2 kg/m(2 ) for those with DM. More than two co-morbidities were experienced by 32% of men and 30% of women. In conclusion, adults with COGHD after the cessation of GH have multiple metabolic co-morbidities. Lifelong GH replacement might be important for improving the overall metabolic profiles in these patients.

  13. 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

  14. 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

  15. High dose growth hormone treatment induces acceleration of skeletal maturation and an earlier onset of puberty in children with idiopathic short stature

    PubMed Central

    Kamp, G; Waelkens, J; de Muinck, Keizer-... S M P F; de .. Delemarre-Van; Verhoeven-Wind, L; Zwinderman, A; Wit, J; Clayton, P

    2002-01-01

    Background: Long term growth hormone (GH) treatment in children with idiopathic short stature (ISS) results in a relatively small mean gain in final height of 3–9 cm, which may not justify the cost of treatment. As it is unknown whether GH treatment during puberty adds to final height gain, we sought to improve the cost–benefit ratio, employing a study design with high dose GH treatment restricted to the prepubertal period. Aims: To assess the effect of short term, high dose GH treatment before puberty on growth, bone maturation, and pubertal onset. Methods: Five year results of a randomised controlled study are reported. Twenty six boys and nine girls were randomly assigned to a GH treatment group (n = 17) or a control group (n = 18). Inclusion criteria were: no signs of puberty, height less than -2 SDS, age 4–8 years for girls or 4–10 years for boys, GH concentration >10 µg/l after provocation, and normal body proportions. To assess GH responsiveness, children assigned to the GH treatment group received GH treatment for two periods of three months (1.5 IU/m2/day and 3.0 IU/m2/day), separated by three month washout periods, during the first year of study. High dose GH treatment (6.0 IU/m2/day) was then started and continued for at least two full years. When puberty occurred, GH treatment was discontinued at the end of a complete year's treatment (for example, three or four years of GH treatment). Results: In response to at least two years on high dose GH treatment, mean (SD) height SDS for chronological age increased significantly in GH treated children from -2.6 (0.5) to -1.3 (0.5) after two years and -1.4 (0.5) SDS after five years of study. No changes in height SDS were observed in controls. A rapid rate of bone maturation of 3.6 years/2 years in treated children compared to 2 years/2 years in controls was observed in response to two years high dose GH treatment. Height SDS for bone age was not significantly different between groups during the study

  16. Identification of a submicroscopic 3.2 Mb chromosomal 16q12.2-13 deletion in a child with short stature, mild developmental delay, and craniofacial anomalies, by high-density oligonucleotide array-a recognizable syndrome.

    PubMed

    Chang, Ching-Fen; Li, Ling-Hui; Wang, Chung-Hsing; Tsai, Fuu-Jen; Chen, Tsai-Chuan; Wu, Jer-Yuarn; Chen, Yuan-Tsong; Tsai, Anne Chun-Hui

    2010-09-01

    Interstitial deletion of 16q has emerged into a recognizable pattern of congenital malformation. We report on a 9-year-old boy with short stature, psychomotor retardation, high forehead, broad flat nasal bridge, hypertelorism, cup-shaped ears, short neck, and a normal karyotype. Using high-density oligonucleotide array chip (Affymetrix 6.0) to perform parental and proband samples concurrently on three chips and interpreted as a trio set, a de novo 3.2 Mb deletion from bands q12.2 to q13 on chromosome 16 (from 52.08 to 55.3 Mb) of paternal origin was identified. The deletion was confirmed by quantitative genomic PCR and the break points were defined by junction PCR. Our study demonstrated the power of high-density oligonucleotide array chip in identifying novel submicroscopic deletions that were not detectable using G-banding cytogenetic technology. Furthermore, our result narrowed down the critical region for craniofacial features in interstitial 16q11.2-q13 deletion syndrome. In patients who have high forehead, broad flat nasal bridge, hypertelorism, cup-shaped ears, short neck and short stature, high-density array should be included in initial work up.

  17. Premature Epiphyseal Closure of the Lower Extremities Contributing to Short Stature after cis-Retinoic Acid Therapy in Medulloblastoma: A Case Report

    PubMed Central

    Noyes, Jessica J.; Levine, Michael A.; Belasco, Jean B.; Mostoufi-Moab, Sogol

    2015-01-01

    Background Prolonged cis-Retinoic Acid (cis-RA) exposure contributes to premature epiphyseal closure. Cis-RA is administered in various treatment regimens for pediatric cancers, thus increasing the risk for bone deformities and compromised growth. Results We present a case of premature epiphyseal closure in a 9 year-old female with history of medulloblastoma and treatment with a multimodal regimen including cis-RA. She was subsequently diagnosed with radiation-induced endocrine late effects including hypothyroidism and growth hormone deficiency (GHD). Seven months after initiation of GH, increased prominence of wrists and knees combined with deceleration in growth velocity prompted further evaluation; radiographs revealed bilateral premature closure of distal femur and proximal tibia growth plates despite normal left wrist bone age. Conclusion High doses of vitamin A and its analogs are linked to premature closure of lower extremity growth plates in animals and children. Pediatric brain tumor patients are at increased risk of growth failure due to concurrent radiation-induced GHD, damage to spinal bones, and cis-RA associated premature closure of lower extremity growth plates, with significant reduction in adult stature. A better appreciation of the detrimental effect of cis-RA on the growing skeleton is needed to monitor at-risk patients and to provide timely interventions. PMID:26457578

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

    PubMed Central

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

    2014-01-01

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

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

    PubMed

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

    2014-09-01

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

  20. 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.

  1. A 24.2-Mb deletion of 4q12 --> q21.21 characterized by array CGH in a 131/2-year-old girl with short stature, mental retardation, developmental delay, hyperopia, exotropia, enamel defects, delayed tooth eruption and delayed puberty.

    PubMed

    Chen, C P; Lin, S P; Su, Y N; Chern, S R; Tsai, F J; Wu, P C; Chen, L F; Wang, W

    2011-01-01

    We report molecular and cytogenetic characterization of proximal deletion of chromosome 4q, del(4)(q12 --> q21.21) in a 131/2-year-old girl with short stature, mental retardation, developmental delay, hyperopia, exotropia, enamel defects, delayed tooth eruption and delayed puberty. We speculate that haploinsufficiency of the AMTN, ENAM and AMBN genes is most likely responsible for dental disorders, haploinsufficiency of the BMP2K genes is most likely responsible for ocular disorders, and haploinsufficiency of the EREG, AREG and BTC genes is most likely responsible for delayed puberty in this patient.

  2. 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

  3. Prediction of stature using hand dimensions.

    PubMed

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

    2008-11-01

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

  4. Evaluation of stature estimation from the database for forensic anthropology.

    PubMed

    Wilson, Rebecca J; Herrmann, Nicholas P; Jantz, Lee Meadows

    2010-05-01

    Trotter and Gleser's (1-3) stature equations, conventionally used to estimate stature, are not appropriate to use in the modern forensic context. In this study, stature is assessed with a modern (birth years after 1944) American sample (N = 242) derived from the National Institute of Justice Database for Forensic Anthropology in the United States and the Forensic Anthropology Databank. New stature formulae have been calculated using forensic stature (FSTAT) and a combined dataset of forensic, cadaver, and measured statures referred to as Any Stature (ASTAT). The new FSTAT-based equations had an improved accuracy in Blacks with little improvement over Ousley's (4) equations for Whites. ASTAT-based equations performed equal to those of FSTAT equations and may be more appropriate, because they reflect both the variation in reported statures and in cadaver statures. It is essential to use not only equations based on forensic statures, but also equations based on modern samples.

  5. Stature in Holocene foragers of North India.

    PubMed

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

    2014-03-01

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

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

    PubMed

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

    2008-06-01

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

  7. 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.

  8. 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…

  9. Additional case of Neuhäuser megalocornea and mental retardation syndrome with congenital hypotonia.

    PubMed

    Santolaya, J M; Grijalbo, A; Delgado, A; Erdozaín, G

    1992-06-01

    We report on a 3-1/2-year-old Spanish girl with the Neuhäuser megalocornea and mental retardation syndrome. A review shows that megalocornea, mental retardation, and, presumably, hypotonia, are the major manifestations for diagnosis. The facial appearance of the typical cases is characterised by frontal bossing, broad nasal bridge, mild hypertelorism, long upper lip, and small mandible.

  10. 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…

  11. Stature estimation from hand and phalanges lengths of Egyptians.

    PubMed

    Habib, Sahar Refaat; Kamal, Nashwa Nabil

    2010-04-01

    Estimation of stature from extremities plays an important role in identifying the deceased in forensic examinations. This study examines the relationship between stature and hand and phalanges lengths among Egyptians. Stature, hand and phalanges lengths of 159 subjects, 82 males and 77 females (18-25years) were measured. Statistical analysis indicated that bilateral variation was insignificant for all measurements. Sex differences were significant for all measurements. Linear and multiple regression equations for stature estimation were calculated. Correlation coefficients were found to be positive, but little finger measurements of male and distal phalanges of female fingers were not correlated with stature. Regression equations were checked for accuracy by comparing the estimated stature and actual stature.

  12. Stature estimation for Bosnian male population.

    PubMed

    Sarajlić, Nermin; Cihlarz, Zdenko; Klonowski, Eva Elvira; Selak, Ivan

    2006-02-01

    Since 1996, the Trotter and Gleser formulae to determine the stature of recovered missing persons in Bosnia and Herzegovina have been used. The purpose of this study is to develop appropriate stature estimation formulae from the length of the femur, tibia and fibula for use in the Bosnia and Herzegovina to help in identifications of the victims. Research was undertaken on 50 male cadavers, of individuals who died between the ages of 23 to 54 years. The cadaver length was measured and the length of the long bones was obtained from X-ray photographs. The length of the cadavers of the individuals who died after age of 45 years was corrected according to Giles' table. This study established that using Trotter and Gleser's formulae underestimate stature of tall people in the current population of Bosnia and Herzegovina. Smallest standard error of estimate is observed in the formula that uses the sum of the length of femur and fibula. There are no statistically significant differences between the length of the bones from the left and right sides of the body. Therefore, formulae developed from the average length of bone pairs are recommended for use.

  13. [Low stature in males with normal phenotype and 45,X/46,XY mosaicism].

    PubMed

    Lara Orejas, E; Golmayo Gaztelu, L; Núñez Estevez, M; San Román Cos-Gayón, M A; Alonso Blanco, M; Barrio Castellanos, R

    2008-02-01

    There is wide variation in the clinical expression of 45,X/46,XY mosaicism. Ninety percent of prenatally diagnosed boys have normal male phenotype at birth, while those diagnosed postnatally show a wide spectrum of phenotypes, ranging from Turner syndrome, mixed gonadal dysgenesis, and male pseudohermaphroditism to apparent normality. We report the clinical, cytogenetic, endocrinologic and histologic findings in three boys with an apparently normal male phenotype and 45,X/46,XY mosaicism who were diagnosed postnatally because of their short stature. With the exception of one patient with Turner stigmata, no other abnormal features were found. No correlation between the proportion of 45,X/46,XY cell lines in blood, gonads and phenotype was found. Both prenatally and postnatally diagnosed boys with normal male phenotype must be followed-up because they can develop late-onset abnormalities, such as dysgenetic testes leading to infertility or neoplastic transformation, and short stature, which could be improved with growth hormone therapy.

  14. 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

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

    PubMed

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

    2012-03-01

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

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

    PubMed

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

    2014-02-01

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

  17. [Progress on Individual Stature Estimation in Forensic Medicine].

    PubMed

    Wu, Rong-qi; Huang, Li-na; Chen, Xin

    2015-12-01

    Individual stature estimation is one of the most important contents of forensic anthropology. Currently, it has been used that the regression equations established by the data collected by direct measurement or radiological techniques in a certain group of limbs, irregular bones, and anatomic landmarks. Due to the impact of population mobility, human physical improvement, racial and geographic differences, estimation of individual stature should be a regular study. This paper reviews the different methods of stature estimation, briefly describes the advantages and disadvantages of each method, and prospects a new research direction.

  18. 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.

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

    PubMed Central

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

    2015-01-01

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

  20. Quality of life in short adults.

    PubMed

    Busschbach, J J; Rikken, B; Grobbee, D E; De Charro, F T; Wit, J M

    1998-01-01

    The use of (costly) growth hormone (GH) treatment in short children is often justified by the assumption that short stature considerably reduces quality of life in adults. We tested this assumption in 5 groups of short adults: 25 patients with isolated GH deficiency; 17 male patients with childhood onset renal failure; 25 women with Turner syndrome and 26 patients who were presented as a child to a paediatrician for idiopathic short stature. A group of 44 short individuals with presumably idiopathic short stature, who had not been presented to a paediatrician for short stature, was sampled from the general population ('normal shorts'). We measured quality of life in terms of socio-economic variables, the Nottingham Health Profile and time trade-off. The mean height of most groups was close to the 3rd percentile. The chance of having a partner was low for all groups, except for the normal shorts. Problems with job application were only reported in Turner syndrome. The scores on the Nottingham Health Profile were all within the normal range, but GH-deficient adults had a higher score on the domain energy than normal shorts. Women with Turner syndrome, individuals with renal failure, and those with idiopathic short stature had a wish to be taller, with an estimated reduction in quality of life of 2-4% (time trade-off). As the normal shorts did not show any sign of a reduced quality of life, we falsify the assumption of a direct relation between short stature and quality of life. The complaints of patients with idiopathic short stature around the 3rd percentile seem to be the result of unsuccessful coping strategies.

  1. 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.

  2. Estimation of stature from hand impression: a nonconventional approach.

    PubMed

    Ahemad, Nasir; Purkait, Ruma

    2011-05-01

    Stature is used for constructing a biological profile that assists with the identification of an individual. So far, little attention has been paid to the fact that stature can be estimated from hand impressions left at scene of crime. The present study based on practical observations adopted a new methodology of measuring hand length from the depressed area between hypothenar and thenar region on the proximal surface of the palm. Stature and bilateral hand impressions were obtained from 503 men of central India. Seventeen dimensions of hand were measured on the impression. Linear regression equations derived showed hand length followed by palm length are best estimates of stature. Testing the practical utility of the suggested method on latent prints of 137 subjects, a statistically insignificant result was obtained when known and estimated stature derived from latent prints was compared. The suggested approach points to a strong possibility of its usage in crime scene investigation, albeit the fact that validation studies in real-life scenarios are performed.

  3. 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.

  4. 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

  5. Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype

    PubMed Central

    Skauli, Nadia; Wallace, Sean; Chiang, Samuel C. C.; Barøy, Tuva; Holmgren, Asbjørn; Stray-Pedersen, Asbjørg; Bryceson, Yenan T.; Strømme, Petter; Frengen, Eirik; Misceo, Doriana

    2016-01-01

    Biallelic PIGT variants were previously reported in seven patients from three families with Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 (MCAHS3), characterized by epileptic encephalopathy, hypotonia, global developmental delay/intellectual disability, cerebral and cerebellar atrophy, craniofacial dysmorphisms, and skeletal, ophthalmological, cardiac, and genitourinary abnormalities. We report a novel homozygous PIGT missense variant c.1079G>T (p.Gly360Val) in two brothers with several of the typical features of MCAHS3, but in addition, pyramidal tract neurological signs. Notably, they are the first patients with MCAHS3 without skeletal, cardiac, or genitourinary anomalies. PIGT encodes a crucial subunit of the glycosylphosphatidylinositol (GPI) transamidase complex, which catalyzes the attachment of proteins to GPI-anchors, attaching the proteins to the cell membrane. In vitro studies in cells from the two brothers showed reduced levels of GPI-anchors and GPI-anchored proteins on the cell surface, supporting the pathogenicity of the novel PIGT variant. PMID:27916860

  6. Balanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea

    PubMed Central

    Razavi, Zahra; Momtaz, Hossein Emad

    2017-01-01

    Chromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. Although X-autosome translocations are frequently associated with streak gonads and clinical features of the Turner syndrome, the majority of X-autosome carriers may present with a variable phenotype, developmental delay, and recognizable X-linked syndrome due to nonrandom X-inactivation. In this article, we describe a healthy 15.5-year-old girl with primary amenorrhea, gonadal dysgenesis, and tall stature without other manifestations of the Turner syndrome. Relevant clinical, biochemical, endocrinological, and cytogenetical evaluations were performed. Initial investigations revealed hypergonadotropic hypogonadism (FSH=134 mIU/mL [normal=10–15 mIU/mL], LH=47.5 [normal=10–15 mIU/mL], and estradiol=24.3 pmol/L). On ultrasound examination of the pelvis, streak ovaries with a hypoplastic uterus were noted. Chromosome study, performed according to routine procedures, revealed an apparently balanced reciprocal translocation involving the short arm of chromosome 1(p2) and the long arm of the X chromosome (q2) in all the cells with the following karyotype: 46,X,t(1;X)(p13;q22). She was placed on hormone replacement therapy. In our patient, X-autosome translocation was associated with gonadal dysgenesis and tall stature. We conclude that t(X;1) may be associated with gonadal dysgenesis without other congenital abnormalities. To our knowledge, normal phenotype with gonadal dysgenesis and tall stature in association with t(X;1) translocation has not been previously reported. PMID:28360449

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

    PubMed Central

    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

    2016-01-01

    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

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

    PubMed

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

    2012-01-01

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

  9. Tall stature and gonadal dysgenesis in a non-mosaic girl 45,X.

    PubMed

    Fernandez, Rosa; Pasaro, Eduardo

    2010-01-01

    Turner's syndrome, also known as 'monosomy X', is a genetic disorder that occurs in 1/2,500 female births and is hypothesized to result from haploinsufficiency of certain genes expressed from both sex chromosomes that escape X inactivation. While the classic karyotype related to Turner's syndrome is 45,X, the majority of those affected actually have a mosaic chromosomal complement, most often with a second normal cell line (46,XX). The resulting phenotype is variable and related to the underlying chromosomal pattern, but it is characterized by three cardinal features: short stature (around 100%), ovarian failure (>90%) and congenital lymphedema (>80%). In this paper we report a molecular and cytogenetic investigation of a 26-year-old female with non-mosaic 45,X karyotype, who has a stature of 170 cm without GH treatment, and whose only apparent Turner feature is gonadal dysgenesis. The only possible explanation for the absence of Turner phenotype is the hidden mosaicism combined with an untreated gonadal dysgenesis. Our results support the theory that significant ascertainment bias exists in our understanding of Turner's syndrome.

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

    PubMed

    Krishan, Kewal; Kanchan, Tanuj; Sharma, Abhilasha

    2012-05-01

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

  11. 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

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

    PubMed Central

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

    2015-01-01

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

  13. 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.

  14. Growth in Boys with 45,X/46,XY Mosaicism: Effect of Growth Hormone Treatment on Statural Growth.

    PubMed

    Bertelloni, Silvano; Baroncelli, Giampiero I; Massart, Francesco; Toschi, Benedetta

    2015-01-01

    45,X/46,XY mosaicism is a rare sex chromosome disorder of sex development. Short stature is a main feature of boys with this condition. Different causes likely contribute to growth impairment. Growth hormone (GH) has been administered to treat short stature in boys with 45,X/46,XY mosaicism, but conflicting data are available. Here, spontaneous growth patterns as well as short- and long-term follow-up studies during GH therapy in these patients are reviewed. Short- and mid-term data showed an improvement of the growth pattern in GH-treated boys, mainly when hormonal therapy was started early, while long-term follow-up demonstrated similar adult heights in GH-treated and untreated patients. Individual biological factors (e.g. different chromosome constitution, different mosaicism among various tissues, impaired pubertal growth spurt), non-homogeneous GH doses and different ages at start of therapy may contribute to the variable results. Thus, early GH therapy at pharmacological doses may improve the growth pattern of short boys with 45,X/46,XY mosaicism, but data on adult height are disappointing. Evaluation of larger patient samples treated by homogeneous doses and long-term follow-up studies assessing adult height and safety are needed to reach definitive conclusions on GH therapy in boys with 45,X/46,XY mosaicism.

  15. 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.

  16. 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

  17. 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.

  18. 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

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

    PubMed

    Krishan, Kewal; Sharma, Abhilasha

    2007-08-01

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

  1. A syndrome of hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion.

    PubMed Central

    Qazi, Q H; Markouizos, D; Rao, C; Sheikh, T; Beller, E; Kula, R

    1994-01-01

    Three unrelated Puerto Rican boys, ranging in age from 3 to 4 years, had marked, central, non-progressive hypotonia, chronic constipation, severe psychomotor retardation, seizures or abnormal electroencephalograph or both, abnormal dermatoglyphics, delayed bone age, dysharmonic skeletal maturation, and preponderance and larger size of type 2 muscle fibres. Additional findings included narrow, high arched palate, prominent nasal root, long philtrum, distended abdomen, and drooling from open mouth. Two of the three patients also had undescended testes, hypertelorism, and tapered fingers. Birth weight, postnatal physical growth, and head size were average. Family and gestational histories and laboratory evaluations were normal. The combination of features observed in the three boys appears to be distinct and to represent a new syndrome. Images PMID:8064821

  2. 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.

  3. 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…

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

    MedlinePlus

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

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

    PubMed

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

    2016-03-01

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

  6. Nineteenth century Mexican statures in the United States and their relationship with insolation and vitamin D.

    PubMed

    Carson, Scott Alan

    2010-01-01

    The use of height data to measure living standards is now a well-established method in economics. However, there are still some populations, places and times for which the comparison across groups remains unclear. One example is 19th century Mexicans in the US. This study demonstrates that after comparing the statures of Mexicans born in Mexico and the US the primary source of the stature difference between the two groups was birth year, and the stature gap increased as the US economy developed while the Mexican economy stagnated. Moreover, the stature growth of Mexicans born in the US was related to vitamin D, and the Mexican relationship between stature and insolation was more like that of Europeans than Africans.

  7. Growth hormone secretory dynamics in subjects with normal stature.

    PubMed

    Costin, G; Kaufman, F R; Brasel, J A

    1989-10-01

    To evaluate the dynamics of growth hormone (GH) secretion in subjects with normal stature and to determine whether a correlation exists between height and the quantity of GH secreted, we determined the 24-hour GH concentration by measuring GH levels every 30 minutes in 27 boys and 19 girls of normal height, 7 to 18 years of age, of whom 24 were prepubertal and 22 in various stages of puberty. Spontaneous GH secretion had wide variations, with values ranging from less than 1.0 to 67.0 micrograms/L. In prepubertal children the highest GH levels were usually noted during sleep; in pubertal subjects the highest values were distributed almost equally between sleep and wake hours. In all subjects, GH secretion appeared to decrease before meals, followed by an increase after meals. Most indexes of GH secretion and insulin-like growth factor I levels were significantly greater in pubertal than in prepubertal subjects (p less than 0.002), and in both groups the GH concentration was significantly greater during sleep (p less than 0.005). In all groups the 24-hour GH concentration correlated significantly with the area under the GH curve, 24-hour GH pulse amplitude, and GH concentration and peak GH level during sleep and wake hours (P less than 0.0001); 24-hour GH concentrations correlated with insulin-like growth factor I levels only when the entire group of 46 subjects was considered (p less than 0.01). There were no significant correlations between 24-hour GH concentration and the subjects' age, bone age, height (SD score), weight (SD score), or body mass index. We conclude that in subjects with normal stature, mean 24-hour GH concentrations vary considerably and in the low range overlap with values reported in hypopituitarism.

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

    PubMed

    Scofield, Douglas G; Schultz, Stewart T

    2006-02-07

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

  9. 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…

  10. Determination of stature from cephalo-facial dimensions in a North Indian population.

    PubMed

    Krishan, Kewal; Kumar, Raj

    2007-05-01

    A forensic medicine specialist, while a conducting medico-legal autopsy, is often asked to opine about the identity of the deceased in unknown fragmentary and dismembered remains. Determination of stature is an important aspect in establishing identity in such cases. Sometimes, cephalo-facial remains are brought for postmortem and forensic examination. The aim of the present study was to estimate the stature from cephalo-facial dimensions in a sample of 252 Koli male adolescents from North India. As a part of Indian caste system, Kolis are an endogamous group of North India. Along with stature, sixteen cephalo-facial measurements were taken on each subject. The findings suggest that all the cephalo-facial measurements are significantly correlated with stature (P<0.001, P<0.01); the measurements of the cephalic region have strong correlation with stature than those of the facial region. This was also supported by the regression analysis, which shows that the cephalic measurements give better prediction of stature. Reliability of the regression formulae was checked by comparing the estimated and actual stature within the same sample (genetically homogeneous population, n=252) and in another sample taken from a mixed population of North India (genetically heterogeneous population, n=90).

  11. Estimation of stature from hand and handprint dimensions in a Western Australian population.

    PubMed

    Ishak, Nur-Intaniah; Hemy, Naomi; Franklin, Daniel

    2012-03-10

    As part of the formulation of a biological profile, the estimation of stature is an important element that provides useful data towards narrowing the pool of potentially matching identities. Recent literature has demonstrated that anthropometry of the hand has considerable promise for the accurate estimation of stature; although the technique has only been tested in a relatively limited range of populations. The aim of the present study, therefore, is to assess the reliability and accuracy of using anthropometric hand measurements for the estimation of stature in a contemporary Western Australian population; we also evaluate whether stature can be accurately estimated from the measurement of handprints. The study sample comprises 91 male and 110 female adult individuals. Following the measurement of stature, seven measurements are taken on each hand and its corresponding print. To establish the reliability of acquiring these measurements, a precision study was performed prior to primary data collection. Measurements data are analysed using basic univariate statistics and simple and multiple regression analyses. Our results show that the degree of measurement error and reliability are well within accepted standards. Stature prediction accuracy using hand and handprint measurements ranges from ±4.74 to 6.53cm, which is comparable to established skeletal standards for the hand. This study provides new forensic standards for the estimation of stature in a Western Australian population and also demonstrates that the measurement and analysis of handprints affords a novel source of profiling data that is statistically quantified.

  12. Stature estimation from the femur and tibia in Black South African sub-adults.

    PubMed

    Brits, Desiré M; Bidmos, Mubarak A; Manger, Paul R

    2017-01-01

    Stature estimation can play a role in the positive identification of unknown individuals and as such it is routinely assessed during the examination of adult remains. Unfortunately, this is not a standard procedure when dealing with sub-adult remains due to the general lack of standard procedures for the estimation of sub-adult stature. The aim of this study was therefore to derive regression equations for the estimation of stature in black South African sub-adults. Fifty nine black South African sub-adult males and females, aged 10-17 years, voluntarily participated in the study by undergoing a full body Magnetic Resonance Imaging (MRI) scan. Living stature was measured with a stadiometer and the maximum and diaphyseal lengths of the femur and tibia were measured from the MRI scans using the image processing software OsiriX. Pearson's correlation coefficients and linear least square regression analyses were used to assess the correlations between living stature and the measurements and to generate sub-adult stature estimation equations for males, females and a combined sex sample. Measurements of the femur, tibia and the combined measures thereof showed strong statistically significant positive correlations with living stature, while the obtained regression equations were characterized by low standard error of estimates. The strong correlations and low standard error of estimates are comparable to stature estimation models reported for Black South African adults and therefore these variables can be considered good estimators of sub-adult stature which will contribute valuable information to the biological profile of unidentified sub-adult skeletal remains.

  13. Frequency and Causes of Hypotonia in Neonatal Period with the Gestational Age of More Than 36 Weeks in NICU of Mofid Children Hospital, Tehran, Iran During 2012-2014

    PubMed Central

    SHAHABI, Nosratollah Seyed; FAKHRAEE, Hossain; KAZEMIAN, Mohammad; AFJEH, Abolfazl; FALLAHI, Minoo; SHARIATI, Maryam; GORJI, Fatemeh

    2017-01-01

    Objective Hypotonia is a serious neurologic problem in neonatal period. Although hypotonia is a nonspecific clinical finding but it is the most common motor disorder in the newborn. The objective of this study was to determine the frequency of neonatal hypotonia then to ascertain of the most common causes. Materials & Methods This cross –sectional prospective study was carried out on the 3281 term infants hospitalized in conventional and NICU of Mofid Children Hospital, Tehran, Iran during 2012-2014. Diagnosis was made by history, physical & neurological examination and accessible diagnostic tests. Results Fifty nine hypotonic neonates were identified, forty seven (79.66%) had central hypotonia (Hypoxic ischemic encephalopathy (n= 2), other causes of encephalopathy (n=2), intracranial hemorrhage (n=4), CNS abnormalities (n= 7), chromosomal disorders (n=4), syndromic–nonsyndromic (n=8), and metabolic diseases (n=8). Peripheral hypotonic recognized in 6 infants (10.17%); spinal muscular atrophy (n= 1), and myopathy (n= 5). Six cases (10.17%) remained unclassified. Twelve infants had transient hypotonia. In final study, 18 of 59 infants (30%) died, nearly 90% before one year of age. Twenty-eight (47%) infants found developmental disorders and only 13 (22%) infants achieved normal development in their follow up. Conclusion Neonatal hypotonia is a common event in neonatal period. A majority of diagnosis is obtained by history and physical examination. Neuroimaging, genetic and metabolic tests were also important in diagnosis. Genetic, syndromic–nonsyndromic, and metabolic disorders were the most causes of neonatal hypotonia. PMID:28277555

  14. 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

  15. 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

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

    PubMed Central

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

    2016-01-01

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

  17. 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

  18. Small-for-gestational age and its association with maternal blood glucose, body mass index and stature: a perinatal cohort study among Chinese women

    PubMed Central

    Leng, Junhong; Hay, John; Liu, Gongshu; Zhang, Jing; Wang, Jing; Liu, Huihuan; Yang, Xilin; Liu, Jian

    2016-01-01

    Objective To examine whether maternal low blood glucose (BG), low body mass index (BMI) and small stature have a joint effect on the risk of delivery of a small-for-gestational age (SGA) infant. Design Women from a perinatal cohort were followed up from receiving perinatal healthcare to giving birth. Setting Beichen District, Tianjin, China between June 2011 and October 2012. Participants 1572 women aged 19–39 years with valid values of stature, BMI and BG level at gestational diabetes mellitus screening (gestational weeks 24–28), glucose challenge test <7.8 mmol/L and singleton birth (≥37 weeks’ gestation). Main outcome measures SGA was defined as birth weight <10th centile for gender separated gestational age of Tianjin singletons. Results 164 neonates (10.4%) were identified as SGA. From multiple logistic regression models, the ORs (95% CI) of delivery of SGA were 0.84 (0.72 to 0.98), 0.61 (0.49 to 0.74) and 0.64 (0.54 to 0.76) for every 1 SD increase in maternal BG, BMI and stature, respectively. When dichotomises, maternal BG (<6.0 vs ≥6.0 mmol/L), BMI (<24 vs ≥24 kg/m2) and stature (<160.0 vs ≥160.0 cm), those with BG, BMI and stature all in the lower categories had ∼8 times higher odds of delivering an SGA neonate (OR (95% CI) 8.01 (3.78 to 16.96)) relative to the reference that had BG, BMI and stature all in the high categories. The odds for an SGA delivery among women who had any 2 variables in the lower categories were ∼2–4 times higher. Conclusions Low maternal BG is associated with an increased risk of having an SGA infant. The risk of SGA is significantly increased when the mother is also short and has a low BMI. This may be a useful clinical tool to identify women at higher risk for having an SGA infant at delivery. PMID:27633632

  19. 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

  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. 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.

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

    PubMed

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

    2016-01-01

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

  3. MANAGEMENT OF ENDOCRINE DISEASE: Diagnostic and therapeutic approach of tall stature.

    PubMed

    Albuquerque, Edoarda Vasco de Albuquerque; Scalco, Renata C; Jorge, Alexander Augusto de Lima

    2017-03-08

    Tall stature is defined as a height of more than 2 standard deviations (SD) above average for same sex and age. Tall individuals are usually referred to endocrinologists so that hormonal disorders leading to abnormal growth are excluded. However, the majority of these patients have familial tall stature or constitutional advance of growth (generally associated with obesity), both of which are diagnoses of exclusion. It is necessary to have familiarity with a large number of rarer overgrowth syndromes, especially because some of them may have severe complications such as aortic aneurysm, thromboembolism and tumor predisposition and demand specific follow-up approaches. Additionally, endocrine disorders associated with tall stature have specific treatments and for this reason their recognition is mandatory. With this review, we intend to provide an up-to-date summary of the genetic conditions associated with overgrowth, to emphasize a practical diagnostic approach of patients with tall stature and to discuss the limitations of current growth interruption treatment options.

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

    PubMed

    Tang, Jianpin; Chen, Rui; Lai, Xiaoping

    2012-11-01

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

  5. Humoral Immunodeficiency with Hypotonia, Feeding Difficulties, Enteropathy, and Mild Eczema Caused by a Classical FOXP3 Mutation.

    PubMed

    Tuijnenburg, Paul; Cuadrado, Eloy; Bosch, Annet M; Kindermann, Angelika; Jansen, Machiel H; Alders, Marielle; van Leeuwen, Ester M M; Kuijpers, Taco W

    2017-01-01

    We describe here the case of a boy who presented with pulmonary infections, feeding difficulties due to velopharyngeal insufficiency and gastroesophageal reflux, myopathy, and hypotonia soon after birth. Later, he was also found to have an elevated immunoglobulin (Ig) E and mild eczema and was diagnosed with inflammatory bowel disease. Further immunological screening at the age of 7 years showed low B and NK cell numbers but normal CD4(+) and CD8(+) T cells and notably, normal numbers of CD4(+) regulatory T (Treg) cells. Serum IgG, IgA, and IgM were low to normal, but he had a deficient response to a pneumococcal polysaccharide vaccine and thus a humoral immunodeficiency. To our surprise, whole exome sequencing revealed a mutation in forkhead box protein 3 (FOXP3), encoding an essential transcription factor for the development and function of Treg cells. This classical mutation is associated with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. Further in vitro studies indeed showed defective function of Treg cells despite normal FOXP3 protein expression and nuclear localization. The boy underwent hematopoietic stem cell transplantation at 11 years of age and despite the temporary development of diabetes while on prednisone is now doing much better, IgE levels have declined, and his fatigue has improved. This case illustrates that a classical pathogenic mutation in FOXP3 can lead to a clinical phenotype where the diagnosis of IPEX syndrome was never considered because of the lack of diabetes and the presence of only mild eczema, in addition to the normal Treg cell numbers and FOXP3 expression.

  6. Humoral Immunodeficiency with Hypotonia, Feeding Difficulties, Enteropathy, and Mild Eczema Caused by a Classical FOXP3 Mutation

    PubMed Central

    Tuijnenburg, Paul; Cuadrado, Eloy; Bosch, Annet M.; Kindermann, Angelika; Jansen, Machiel H.; Alders, Marielle; van Leeuwen, Ester M. M.; Kuijpers, Taco W.

    2017-01-01

    We describe here the case of a boy who presented with pulmonary infections, feeding difficulties due to velopharyngeal insufficiency and gastroesophageal reflux, myopathy, and hypotonia soon after birth. Later, he was also found to have an elevated immunoglobulin (Ig) E and mild eczema and was diagnosed with inflammatory bowel disease. Further immunological screening at the age of 7 years showed low B and NK cell numbers but normal CD4+ and CD8+ T cells and notably, normal numbers of CD4+ regulatory T (Treg) cells. Serum IgG, IgA, and IgM were low to normal, but he had a deficient response to a pneumococcal polysaccharide vaccine and thus a humoral immunodeficiency. To our surprise, whole exome sequencing revealed a mutation in forkhead box protein 3 (FOXP3), encoding an essential transcription factor for the development and function of Treg cells. This classical mutation is associated with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. Further in vitro studies indeed showed defective function of Treg cells despite normal FOXP3 protein expression and nuclear localization. The boy underwent hematopoietic stem cell transplantation at 11 years of age and despite the temporary development of diabetes while on prednisone is now doing much better, IgE levels have declined, and his fatigue has improved. This case illustrates that a classical pathogenic mutation in FOXP3 can lead to a clinical phenotype where the diagnosis of IPEX syndrome was never considered because of the lack of diabetes and the presence of only mild eczema, in addition to the normal Treg cell numbers and FOXP3 expression. PMID:28289675

  7. Blood lead, anemia, and short stature are independently associated with cognitive performance in Mexican school children.

    PubMed

    Kordas, Katarzyna; Lopez, Patricia; Rosado, Jorge L; García Vargas, Gonzalo; Alatorre Rico, Javier; Ronquillo, Dolores; Cebrián, Mariano E; Stoltzfus, Rebecca J

    2004-02-01

    Lead exposure and nutritional factors are both associated with cognitive performance. Lead toxicity and nutritional status are also associated with each other. We examined whether nutritional status variables account for part or all of the association between cognitive performance and lead exposure. First-grade children (n = 724) ages 6-8 y, attending Mexican public schools located in the vicinity of a metal foundry were asked to participate and 602 enrolled in the study. Blood lead, iron status, anemia, anthropometry, and cognitive function were assessed. Results from 7 standardized tests are presented here. The mean blood lead concentration was 11.5 +/- 6.1 micro g/dL (0.56 +/- 0.30 micro mol/L) and 50% of the children had concentrations >10 micro g/dL (0.48 micro mol/L). The prevalence of mild anemia (<124 g/L) was low (10%) and stunting (<2 SD) was nonexistent (2.3%). In bivariate analyses, lead was negatively associated with 4 cognitive tests and was also inversely correlated with iron status, height-for-age Z scores, and head circumference. In multivariate models, the association between lead and cognitive performance was not strongly affected by nutritional variables, suggesting that the relation of lead to cognition is not explained by lead's relation to iron deficiency anemia or growth retardation. In multivariate models, hemoglobin concentration was also positively associated with Peabody Picture Vocabulary Test and Number Sequencing performance, whereas serum ferritin was negatively related to the Coding subscale of the Wechsler Intelligence Scales for Children-Revised Mexican Version (WISC-RM).

  8. Diagnosis of endocrine disease: limitations of the IGF1 generation test in children with short stature.

    PubMed

    Coutant, Régis; Dörr, Helmuth-Günther; Gleeson, Helena; Argente, Jesús

    2012-03-01

    The IGF1 generation test (IGFGT) is often used during the assessment of suspected GH insensitivity (GHI). We report the results of a survey undertaken in 2010 to determine the use of IGFGT amongst members of the European Society for Paediatric Endocrinology to evaluate suspected GHI. The literature surrounding the usefulness and limitations of IGFGT are reviewed, and recommendations provided for its use. Of 112 paediatric endocrinologists from 30 countries who responded to the survey, 91 (81%) reported that they had used the IGFGT in the previous 2 years; >10 IGFGT protocols were used. The IGFGT impacted treatment decisions for 97% of the respondents and was a prerequisite for recombinant human IGF1 treatment for 45% of respondents. From a literature review, sensitivity of the IGFGT was evaluated as 77-91% in molecularly proven cases of GHI; specificity was ≤97%, depending on the protocol. The positive predictive value of the IGFGT is likely to be low, as the frequency of normality is predictably higher than that of abnormality in GH signalling. Given the limitations of the IGFGT in the most severe cases of GHI syndrome (GHIS), the ability of the IGFGT to detect less severe GHIS is doubtful. In a pragmatic approach, the IGFGT may not be useful for the diagnosis of GHIS.

  9. 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.

  10. 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.

  11. Trichorhinophalangeal syndrome type II presenting with short stature in a child.

    PubMed

    Hazan, Filiz; Korkmaz, Hüseyin A; Yararbaş, Kanay; Wuyts, Wim; Tükün, Ajlan

    2016-12-01

    Trichorhinophalangeal syndrome type II (TRPSII) (synonym: Langer-Giedon syndrome) is a rare autosomal dominant contiguous gene syndrome, resulting from a microdeletion encompassing the EXT1 and the TRPS1 gene at 8q24 (MIM#150230). This syndrome combines the clinical features of two autosomal dominant disorders, trichorhinophalangeal syndrome type I (MIM#190350) and hereditary multiple osteochondromas type I (MIM # 133700). TRPSII is characterized by sparse scalp hair, a long nose with a bulbous tip, long flat philtrum, cone-shaped epiphyses of the phalanges, retarded bone age in infancy and multiple cartilaginous osteochondromas. We report a Turkish patient who had the clinical features and skeletal signs of TRPSII in whom a 13.8Mb deletion in 8q23.1- 8q24.13 was detected.

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

    PubMed

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

    2016-01-01

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

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

    PubMed Central

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

    2015-01-01

    Homozygosity has long been associated with rare, often devastating, Mendelian disorders1 and Darwin was one of the first to recognise that inbreeding reduces evolutionary fitness2. However, the effect of the more distant parental relatedness common in modern human populations is less well understood. Genomic data now allow us to investigate the effects of homozygosity on traits of public health importance by observing contiguous homozygous segments (runs of homozygosity, ROH), which are inferred to be homozygous along their complete length. Given the low levels of genome-wide homozygosity prevalent in most human populations, information is required on very large numbers of people to provide sufficient power3,4. Here we use ROH to study 16 health-related quantitative traits in 354,224 individuals from 102 cohorts and find statistically significant associations between summed runs of homozygosity (SROH) and four complex traits: height, forced expiratory lung volume in 1 second (FEV1), general cognitive ability (g) and educational attainment (nominal p<1 × 10−300, 2.1 × 10−6, 2.5 × 10−10, 1.8 × 10−10). In each case increased homozygosity was associated with decreased trait value, equivalent to the offspring of first cousins being 1.2 cm shorter and having 10 months less education. Similar effect sizes were found across four continental groups and populations with different degrees of genome-wide homozygosity, providing convincing evidence for the first time that homozygosity, rather than confounding, directly contributes to phenotypic variance. Contrary to earlier reports in substantially smaller samples5,6, no evidence was seen of an influence of genome-wide homozygosity on blood pressure and low density lipoprotein (LDL) cholesterol, or ten other cardio-metabolic traits. Since directional dominance is predicted for traits under directional evolutionary selection7, this study provides evidence that increased stature and cognitive function have been

  14. Estimation of living stature from selected anthropometric (soft tissue) measurements: applications for forensic anthropology.

    PubMed

    Adams, Bradley J; Herrmann, Nicholas P

    2009-07-01

    Estimation of living stature has obvious utility in the identification process. Typically, anthropologists estimate stature from the measurement of long bone length. This type of analysis is traditionally conducted on skeletonized or badly decomposed remains, so collection of the necessary bone measurements is relatively simple. As the role of anthropologists expands into medical examiner offices and mass fatality incidents, the analysis of fleshed bodies and body parts is a more common scenario. For stature estimation in these types of cases (e.g., analysis of body portions recovered from an aircraft crash site or from intentional dismemberment), the presence of soft tissue on the human remains would usually necessitate dissection to expose skeletal elements to derive metric data for stature estimation. In order to circumvent this step, this paper provides various formulae that allow for standard anthropometric (i.e., soft tissue) measurements to be used in place of skeletal measurements. Data were compiled from several anthropometric studies (National Health and Nutrition Examination Survey [NHANES] and U.S. Army Anthropometric Survey [ANSUR]) and numerous regression models are presented. Results are compared between skeletal measurements and the anthropometric measurements from each study. It was found that the ANSUR models are similar to the skeletal models, while the NHANES models exhibit weaker correlation coefficients and higher standard errors. Overall, this study finds that stature estimates derived from anthropometric data provide good results and remove the necessity for dissection when working with fleshed body portions.

  15. Stature estimation in a contemporary Japanese population based on clavicular measurements using multidetector computed tomography.

    PubMed

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

    2017-03-08

    The aims of this study was to assess the correlation between stature and clavicular measurements in a contemporary Japanese population using three-dimensional (3D) computed tomographic (CT) images, and to establish regression equations for predicting stature. A total of 249 cadavers (131 males, 118 females) underwent postmortem CT scanning and subsequent forensic autopsy between October 2011 and May 2016 in our department. Four clavicular variables (linear distances between the superior margins of the left and right sternal facets to the anterior points of the left and right acromial ends and between the superior margins of the left and right sternal facets to the left and right conoid tubercles) were measured using 3D CT reconstructed images that extracted only bone data. The correlations between stature and each of the clavicular measurements were assessed with Pearson product-moment correlation coefficients. These clavicular measurements correlated significantly with stature in both sexes. The lowest standard error of estimation value in all, male, and female subjects was 3.62cm (r(2)=0.836), 3.55cm (r(2)=0.566), and 3.43cm (r(2)=0.663), respectively. In conclusion, clavicular measurements obtained from 3D CT images may be useful for stature estimation of Japanese individuals, particularly in cases where better predictors, such as long bones, are not available.

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

    PubMed

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

    2015-11-01

    The 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.

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

    PubMed Central

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

    2014-01-01

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

  18. 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.

  19. Stature estimation formulae from radiographically determined limb bone length in a modern Japanese population.

    PubMed

    Hasegawa, Iwao; Uenishi, Kazuhiro; Fukunaga, Tatsushige; Kimura, Ryousuke; Osawa, Motoki

    2009-11-01

    The objective of this study was to derive regression formulae for stature estimation from long limb bones in a Japanese population. Moreover, commonly employed estimation equations, such as that of Fujii, were re-evaluated through application of current data. To construct equations, measurements were conducted on 434 living subjects (342 females and 92 males; 18-59years old). The whole or maximum length of the femur, tibia, and humerus was determined radiographically using dual-energy X-ray absorptiometry, which permitted measurement of long bones with no magnification. Regression formulae were constructed for females and males relative to the real body height measured in the erect position. Lower limbs of the femur and tibia were more accurate predictors (R=0.813-0.903) than the humerus was (R=0.670-0.708). Multiple regression models were produced for all three bones and the two leg bones, revealing no significant difference between R values. Comparison of these equations with those of earlier studies of Andou and Fujii verified differences in estimated stature, indicating that stature estimation formulae should be constructed based on current data obtained from precise physical measurements. These equations will benefit forensic anthropology and nutrition science for stature estimation of contemporary Japanese individuals.

  20. Age-related factors in the relationship between foot measurements and living stature and body weight.

    PubMed

    Atamturk, Derya; Duyar, Izzet

    2008-11-01

    The measurements of feet and footprints are especially important in forensic identification, as they have been used to predict the body height and weight of victims or suspects. It can be observed that the subjects of forensic-oriented studies are generally young adults. That is to say, researchers rarely take into consideration the body's proportional changes with age. Hence, the aim of this study is to generate equations which take age and sex into consideration, when stature and body weight are estimated from foot and footprints dimensions. With this aim in mind, we measured the stature, body weight, foot length and breadth, heel breadth, footprint length and breadth, and footprint heel breadth of 516 volunteers (253 males and 263 females) aged between 17.6 and 82.9 years using standard measurement techniques. The sample population was divided randomly into two groups. Group 1, the study group, consisted of 80% of the sample (n = 406); the remaining 20% were assigned to the cross-validation group or Group 2 (n = 110). In the first stage of the study, we produced equations for estimating stature and weight using a stepwise regression technique. Then, their reliability was tested on Group 2 members. Statistical analyses showed that the ratios of foot dimensions to stature and body weight change considerably with age and sex. Consequently, the regression equations which include these variables yielded more reliable results. Our results indicated that age and sex should be taken into consideration when predicting human body height and weight for forensic purposes.

  1. Estimation of stature and body mass from the skeleton among coastal and mid-altitude Andean populations.

    PubMed

    Pomeroy, Emma; Stock, Jay T

    2012-02-01

    Adult stature and body mass represent fundamental biological characteristics of individuals and populations, as they are relevant to a range of problems from assessing nutrition and health to longer term evolutionary processes. Stature and body mass estimation from skeletal dimensions are therefore key to addressing biological and social questions about past populations. Anatomical reconstruction provides the most direct proxy for living stature but is only suitable for well-preserved remains. Regression equations for estimating stature from bone lengths are therefore extremely useful, though it is well recognized that differences in body proportions limit the cross-application of equations between samples. Here, we assess the accuracy of published stature estimation equations from worldwide and New World groups applied to archaeological samples from the central Andean coast and highlands of South America. As no existing equations are clearly appropriate, new sample-specific regression equations are presented. Anatomical stature reconstruction is further complicated by artificial cranial modification (ACM) influencing cranial height in Andean samples, so this problem is investigated in the current sample. Although ACM has minimal impact here, the possibility should be explored in other samples before anatomical stature estimation is attempted. Recommendations are also made for estimating body mass from femoral head diameter. The mean of three previously published equations is shown to offer minimal bias and the most reliable estimate of body mass in the study samples.

  2. Carrea’s Index and Tooth Dimensions– An Avant-Garde in Stature Estimation: An Observational Study

    PubMed Central

    Reddy, Reddy Sudhakara; Rajesh, Nallakunta; Jyothirmai, Koneru; Preethi, Madgula; Teja, Thungala Navya

    2016-01-01

    Introduction Identifying victims in case of mass disasters when only human remains are present is quite a challenging task. Although other peripheral extremities of human body are used in estimating stature, in situations where only skull is available, teeth play an important role in personal identification. The present study used Carrea’s index in stature estimation using tooth dimensions. Aim This study is intended to correlate the anterior mandibular tooth dimensions with that of real stature using Carrea’s index and also to know the applicability and validity of this index to the current study population. Materials and Methods A total of 82 subjects (both males and females) which makes 164 hemiarches (normal, crowded and diastema) were included. Actual height of each subject was measured using anthropometer and tooth measurements from each cast were recorded and analyzed using Carrea’s index. Results The results showed a strong correlation between estimated stature and real stature. Moreover, this correlation is more valid on male sample and right side of the inferior hemiarches (Normal-81.8% and 87.2%; Crowded-76.4% and 80%; Diastema-52.9% and 60% respectively). Conclusion Although a correlation between actual stature and estimated stature was established, Carrea’s index as a predictor tool may not give accurate estimations. Nevertheless, it could only act as an auxiliary tool in person identification. PMID:28209000

  3. 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.

  4. New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy.

    PubMed

    Martín-Hernández, Elena; Rodríguez-García, María Elena; Camacho, Ana; Matilla-Dueñas, Antoni; García-Silva, María Teresa; Quijada-Fraile, Pilar; Corral-Juan, Marc; Tejada-Palacios, Pilar; de Las Heras, Rogelio Simón; Arenas, Joaquín; Martín, Miguel A; Martínez-Azorín, Francisco

    2016-10-01

    We report the clinical and biochemical findings from two unrelated patients who presented with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy. Whole exome sequencing (WES) uncovered a homozygous mutation in the ATP8A2 gene (NM_016529:c.1287G > T, p.K429N) in one patient and compound heterozygous mutations (c.1630G > C, p.A544P and c.1873C > T, p.R625W) in the other. Only one haploinsufficiency case and a family with a homozygous mutation in ATP8A2 gene (c.1128C > G, p.I376M) have been described so far, with phenotypes that differed slightly from the patients described herein. In conclusion, our data expand both the genetic and phenotypic spectrum associated with ATP8A2 gene mutations.

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

    PubMed Central

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

    2014-01-01

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

  6. 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

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

    PubMed

    Kues, Arne Benjamin

    2008-07-01

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

  8. 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.

  9. 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.

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

    PubMed

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

    2008-07-01

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

  11. Estimating stature in fossil hominids: which regression model and reference sample to use?

    PubMed

    Hens, S M; Konigsberg, L W; Jungers, W L

    2000-06-01

    coResearchers have long appreciated the significant relationship between body size and an animal's overall adaptive strategy and life history. However, much more emphasis has been placed on interpreting body size than on the actual calculation of it. One measure of size that is especially important for human evolutionary studies is stature. Despite a long history of investigation, stature estimation remains plagued by two methodological problems: (1) the choice of the statistical estimator, and (2) the choice of the reference population from which to derive the parameters. This work addresses both of these problems in estimating stature for fossil hominids, with special reference to A.L. 288-1 (Australopithecus afarensis) and WT 15000 (Homo erectus). Three reference samples of known stature with maximum humerus and femur lengths are used in this study: a large (n=2209) human sample from North America, a smaller sample of modern human pygmies (n=19) from Africa, and a sample of wild-collected African great apes (n=85). Five regression techniques are used to estimate stature in the fossil hominids using both univariate and multivariate parameters derived from the reference samples: classical calibration, inverse calibration, major axis, reduced major axis and the zero-intercept ratio model. We also explore a new diagnostic to test extrapolation and allometric differences with multivariate data, and we calculate 95% confidence intervals to examine the range of variation in estimates for A.L. 288-1, WT 15000 and the new Bouri hominid (contemporary with [corrected] Australopithecus garhi). Results frequently vary depending on whether the data are univariate or multivariate. Unique limb proportions and fragmented remains complicate the choice of estimator. We are usually left in the end with the classical calibrator as the best choice. It is the maximum likelihood estimator that performs best overall, especially in scenarios where extrapolation occurs away from the mean

  12. Genetic testing of the short child.

    PubMed

    Johnston Rohrbasser, L B

    2011-01-01

    Increased understanding of the pathogenetics of short stature and readily available genetic testing have changed the face of diagnostic endocrinology. It remains essential, however, that each short child undergoes detailed clinical, auxological and traditional endocrine assessment to determine which gene (or genes) to study. Diagnostic algorithms and clinical scoring systems are reviewed and the implications of genetic testing for determination of therapy type are discussed. At present, results from genetic testing do not reliably indicate which growth-promoting therapy would be most effective. However, pharmacogenetic testing may play a future role in the individualisation of therapy.

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

    PubMed Central

    Tan, Uner

    2014-01-01

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

  14. 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

  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. 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…

  17. 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…

  18. 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…

  19. Determination of stature from skeletal and skull measurements by CT scan evaluation.

    PubMed

    Giurazza, Francesco; Del Vescovo, Riccardo; Schena, Emiliano; Battisti, Sofia; Cazzato, Roberto Luigi; Grasso, Francesco Rosario; Silvestri, Sergio; Denaro, Vincenzo; Zobel, Bruno Beomonte

    2012-10-10

    The aim of this article is to find a correlation between height and femur/skull measurements through Computed Tomography (CT) scans and derive regression equations for total skeletal height estimation in the Caucasian population. We selected 200 Caucasian patients from March 2010 to July 2011 who had to perform a CT scan for cancer restaging. The mean age is 64.5 years. Both sexes are represented by the same number of persons. Patients have executed a total body CT scan with contrast; once scan accomplished, we measured height through a digital scales. We analyzed CT scans of each patient, obtaining multiplanar reconstruction in sagittal and coronal planes with 1mm of thickness, and we measured 10 diameters of skull and femur. Then we performed a single and a multiple regression analysis considering the three diameters that better correlated with height. The skeletal diameters with the highest correlation coefficients with stature were femur lengths, length of cranial base (Ba-N), and distance from the posterior extremity of the cranial base to the inferior point of the nasal bone (Ba-NB). Although both femur and skull are skeletal segments used for stature estimation, in our sample femur gave stronger correlation with height than skull. h=35.7+1.48·BaN+2.32·BaNB+2.53·FEM and h=3.06·FEM+72.6 are the formulae that provided the most accurate stature assessment using multiple and single regression analysis respectively.

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

    PubMed

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

    2013-03-01

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

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

    PubMed

    Nakatsukasa, Masato; Pickford, Martin; Egi, Naoko; Senut, Brigitte

    2007-07-01

    To understand the palaeobiology of extinct hominids it is useful to estimate their body mass and stature. Although many species of early hominid are poorly preserved, it is occasionally possible to calculate these characteristics by comparison with different extant groups, by use of regression analysis. Calculated body masses and stature determined using these models can then be compared. This approach has been applied to 6 Ma hominid femoral remains from the Tugen Hills, Kenya, attributed to Orrorin tugenensis. It is suggested that the best-preserved young adult individual probably weighed approximately 35-50 kg. Another fragmentary femur results in larger estimates of body mass, indicative of individual variation. The length of the femur of the young adult individual was estimated, by using anthropoid-based regression, to be a minimum of 298 mm. Because whole-femur proportions for Orrorin are unknown, this prediction is conservative and should be revised when additional specimens become available. When this predicted value was used for regression analysis of bonobos and humans it was estimated to be 1.1-1.2 m tall. This value should, however, be viewed as a lower limit.

  2. [Physical growth in stature of school children of Japanese ancestry in the city of São Paulo, Brazil

    PubMed

    Kac; Santos

    1996-04-01

    This paper reports the results of a cross-sectional survey describing the growth in stature of a sample of school children of Japanese ancestry (three or four grandparents born in Japan) and of high socio-economic status living in São Paulo, Brazil. The sample comprises 124 individuals 7-10 years of age, of both sexes. The results show that the children present mean values of stature below the median values of the NCHS curves ("National Center for Health Statistics", U.S.A.). The values are similar to the medians of a sample of Japanese children and below those of well-to-do Brazilian children of non-Japanese ancestry studied by the PNSN ("Pesquisa Nacional sobre Saúde e Nutrição", Brazil). The findings do not support the hypothesis of uniformity of growth potential in stature, casting doubts on the utilization of a single anthropometric reference in the assessment of nutritional status.

  3. Estimation of stature from radiographic measurement of foot dimensions: Truncated foot length may be more reliable than full foot length.

    PubMed

    Gwani, Abdullahi Suleiman; Salihu, Abubakar Tijjani; Garba, Isa Sa'idu; Rufa'i, Adamu Ahmad

    2017-02-01

    Foot length has been shown to be a reliable dimension for estimation of stature. However, phalanges of the foot are very small bones and their length may not be proportional to person's stature. Thus, we hypothesized that foot length measured excluding the phalanges, the truncated foot length, may be more reliable in stature estimation than full foot length. This study, therefore, aimed at comparing the accuracy of the regression equations derived from the truncated foot length and the full foot length. The study recruited a sample of 32 young adults (16 males and 16 females) aged from 20 to 35 years. Lateral radiographs of the right feet were obtained for each subject in a bilateral standing position while maintaining equal weight on both feet. Standing height of the participants was measured with a stadiometer. Truncated foot length and full foot length were measured on the lateral radiographs of the foot. Independent t-test was used to check for mean differences in the dimensions between genders. Linear regression analysis was used to determine the equations for stature estimation. Intra and inter-observer reliability were calculated from four precision estimates: absolute technical error of measurement (aTEM), relative technical error of measurement (rTEM), coefficient of reliability (Rr) and coefficient of variation (Cv). All the dimensions measured were significantly larger in males than females. Linear regression equations were derived for estimation of stature using both the truncated foot length and full foot length. The regression equations derived from truncated foot length have larger correlation coefficient, coefficient of determination, adjusted coefficient of determination as well as smaller standard error of estimation than those derived from full foot length. All the precision estimates showed that the measurement errors are within acceptable limits. This study suggests that even if the full foot length is available, excluding the phalanges may

  4. 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

  5. A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.

    PubMed

    Szklarczyk, Radek; Wanschers, Bas F J; Nijtmans, Leo G; Rodenburg, Richard J; Zschocke, Johannes; Dikow, Nicola; van den Brand, Mariël A M; Hendriks-Franssen, Marthe G M; Gilissen, Christian; Veltman, Joris A; Nooteboom, Marco; Koopman, Werner J H; Willems, Peter H G M; Smeitink, Jan A M; Huynen, Martijn A; van den Heuvel, Lambertus P

    2013-02-15

    The mitochondrial respiratory chain complex IV (cytochrome c oxidase) is a multi-subunit enzyme that transfers electrons from cytochrome c to molecular oxygen, yielding water. Its biogenesis requires concerted expression of mitochondria- and nuclear-encoded subunits and assembly factors. In this report, we describe a homozygous missense mutation in FAM36A from a patient who displays ataxia and muscle hypotonia. The FAM36A gene is a remote, putative ortholog of the fungal complex IV assembly factor COX20. Messenger RNA (mRNA) and protein co-expression analyses support the involvement of FAM36A in complex IV function in mammals. The c.154A>C mutation in the FAM36A gene, a mutation that is absent in sequenced exomes, leads to a reduced activity and lower levels of complex IV and its protein subunits. The FAM36A protein is nearly absent in patient's fibroblasts. Cells affected by the mutation accumulate subassemblies of complex IV that contain COX1 but are almost devoid of COX2 protein. We observe co-purification of FAM36A and COX2 proteins, supporting that the FAM36A defect hampers the early step of complex IV assembly at the incorporation of the COX2 subunit. Lentiviral complementation of patient's fibroblasts with wild-type FAM36A increases the complex IV activity as well as the amount of holocomplex IV and of individual subunits. These results establish the function of the human gene FAM36A/COX20 in complex IV assembly and support a causal role of the gene in complex IV deficiency.

  6. 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

    2016-04-01

    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.

  7. Short stature and growth hormone deficiency in a girl with encephalocraniocutaneous lipomatosis and Jaffe-Campanacci syndrome: a case report

    PubMed Central

    Choi, Eun mi; Jung, Nani; Shim, Ye Jee; Choi, Hee Joung; Kim, Joon Sik; Song, Kwang Soon; Lee, Hee Jung; Kim, Sang Pyo

    2016-01-01

    A 9-year-old Tajikistani girl presented to Keimyung University Dongsan Medical Center for evaluation of a skin lesion on her left eyelid, focal alopecia, unilateral ventricular dilatation, and aortic coarctation. She was diagnosed with encephalocraniocutaneous lipomatosis (ECCL) according to Moog's diagnostic criteria. Café-au-lait spots were found on the left side of her trunk. Multiple nonossifying fibromas were found on her left proximal humerus, left distal femur, both proximal tibias, and left proximal fibula, suggesting Jaffe-Campanacci syndrome (JCS), following imaging of the extremities. Many JCS cases with multiple Café-au-lait macules, multiple nonossifying fibromas may actually have Neurofibromatosis type-1 (NF1). Thus, comprehensive molecular analysis to exclude NF1 mutation was performed using her blood sample. The NF1 mutation was not found. Her height was under the 3rd percentile and her bone age was delayed as compared with her chronological age. Baseline growth hormone (GH) level was below the normal range. Using the insulin stimulation and levo-dihydroxyphenylalanine tests, GH deficiency was confirmed. We present a case of GH deficiency with typical features of ECCL and JCS. PMID:28164079

  8. Thalassemia Major in Adults: Short Stature, Hyperpigmentation, Inadequate Chelation, and Transfusion-Transmitted Infections are Key Features

    PubMed Central

    Prakash, Anupam; Aggarwal, Ramesh

    2012-01-01

    Background: Effective transfusion and chelation have prolonged the quality and longevity of life in thalassemics, who now survive into adulthood. Hence, adult physicians need to be aware of their clinical and laboratory profile and the problems faced by them. Aim: The present study was aimed to evaluate the clinical profile of adult thalassemics. Materials and Methods: Adult (>18 years) thalassemia major patients (n=19) were evaluated clinically and fasting pretransfusion blood samples were analyzed for complete blood counts, kidney and liver function tests, plasma glucose, serum ferritin, and thyroid hormone levels. Results: Average age was 21.65±2.47 years (range 19–28 years), 42.1% had Body mass index (BMI) <18.5. Splenectomy had been performed in 47.4% before reaching adulthood, males significantly outnumbered females (72% vs. 12.5%). Hemoglobin levels <8 g/dl were observed in 31.6% and none had serum ferritin levels in the recommended range suggesting inadequacy of both transfusion and chelation. Indirect hyperbilirubinemia was observed in 21.1% patients although kidney functions, serum protein, and albumin were normal in all patients. Electrocardiographic abnormalities, diabetes mellitus or hypothyroidism were absent. Five patients (26.3%) had contracted transfusion-transmitted viral infections – 21.1% and 5.3% respectively had antibodies to hepatitis C virus and HIV, while 5.3% were positive for Australia antigen. All patients were receiving chelation therapy – deferiprone alone (78.9%) or along with desferrioxamine (21.1%). Average dose of deferiprone being used was 95±8 mg/kg. Conclusion: Adult thalassemia major patients present with a distinct clinical profile having low BMI, generalized hyperpigmentation, most are splenectomized, have low hemoglobin, inadequate chelation and harbor transfusion-transmitted infections. Adult physician needs to be aware of this profile. PMID:22454828

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

    PubMed Central

    Restrepo, Alejandro Estrada; Rueda, Juan Diego Gomez; Aguirre, Cristina Carreño; López, Lorena Patricia Mancilla

    2013-01-01

    Objective: to observe the relationship between socioeconomic status, height and nutritional problems related to obesity, overweight and risk of metabolic complications in men and women of Medellin (Colombia). Methods: cross-sectional study with a sample of 5556 adults between 18 and 69 years of age. We assessed weight, height and waist circumference. Socioeconomic variables were evaluated by family income, socioeconomic stratum and academic level achieved. Results: we found that in men and women the height reached in adulthood is associated with socioeconomic conditions as measured by the socioeconomic strata and family income. In women, height, age, and socioeconomic strata are associated with obesity, overweight and risk of obesity, and risk of metabolic complications. Conclusion: These results are not only from individual unhealthy habits, such as eating patterns based on high density foods combined with low energy expenditure, but also from the cumulative effect of food deprivation throughout life. Therefore, policies intended to prevent them should take a preventive approach that begins before birth and continues during childhood and adulthood. PMID:24892612

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

    PubMed

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

    2015-12-01

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

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

    PubMed

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

    1983-04-01

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

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

    ERIC Educational Resources Information Center

    Lynn, Richard

    2010-01-01

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

  13. Estimation of stature by using the dimensions of the right hand and right foot in Han Chinese adults.

    PubMed

    Zhang, Xinghua; Wei, Yu; Zheng, Lianbin; Yu, Keli; Zhao, Dapeng; Bao, Jinping; Li, Yonglan; Lu, Shunhua; Xi, Huanjiu; Xu, Guochang; Wen, Youfeng

    2017-01-01

    The Han Chinese people are the main ethnic group in China and the largest ethnic group in the world. The dimensions of the hands and feet have been successfully used for the estimation of stature. A total of 26,927 healthy adult subjects, comprising 13,221 men and 13,706 women, were recruited. The survey samples were chosen through random cluster sampling. The mean values were significantly higher in men than those in women for all measurements (P<0.001). All the measurements showed a statistically significant correlation with stature (P<0.01). The combination of the right hand length and the right foot length was the best predictor of stature because it had the lowest standard error of estimate. The use of multiple regression equations yielded better results than did the use of linear regression equations. The accuracy of stature prediction ranged from ±4.81 to ±6.39 cm. The present study was of great importance with regards to improving the physical anthropology database of ethnic groups in China.

  14. Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems.

    PubMed

    D'Angelo, Carla S; Da Paz, José A; Kim, Chong A; Bertola, Débora R; Castro, Claudia I E; Varela, Monica C; Koiffmann, Célia P

    2006-01-01

    Monosomy 1p36 is one of the most commonly observed mental retardation (MR) syndromes that results in a clinically recognizable phenotype including delayed psychomotor development and/or MR, hypotonia, epilepsy, hearing loss, growth delay, microcephaly, deep-set eyes, flat nasal bridge and pointed chin. Besides, a Prader-Willi syndrome (PWS)-like phenotype has been described in patients with 1p36 monosomy. Forty-one patients presenting hypotonia, developmental delay, obesity and/or hyperphagia and behavioral problems who tested negative for PWS were investigated by FISH and/or microsatellite markers. Twenty-six were analyzed with a 1p-specific subtelomeric probe, and one terminal deletion was identified. Thirty patients (15 of which also studied by FISH) were investigated by microsatellite markers, and no interstitial 1p36 deletion was found. Our patient presenting the 1p36 deletion did not have the striking features of this monosomy, but her clinical and behavioral features were quite similar to those observed in patients with PWS, except for the presence of normal sucking at birth. The extent of the deletion could be limited to the most terminal 2.5 Mb of 1p36, within the chromosomal region 1p36.33-1p36.32, that is smaller than usually seen in monosomy 1p36 patients. Therefore, chromosome 1p36.33 deletion should be investigated in patients with hypotonia, developmental delay, obesity and/or hyperphagia and behavioral problems who test negative for PWS.

  15. Sitting height, fat-free mass and body fat as reference variables for lung function in healthy British children: comparison with stature.

    PubMed

    Cotes, J E; Dabbs, J M; Hall, A M; Heywood, C; Laurence, K M

    1979-01-01

    The ventilatory capacity, total lung capacity and transfer factor with their respective subdivisions have been measured on 254 healthy British boy and girl twins aged 8-16 yrs. The logarithmic regression relationships of lung function on stature have been compared with those on sitting height and on stature plus indices of body muscle and fat. The regressions on stature and on sitting height describe the results with similar precision, but stature is marginally better; either index may be used as the reference variable. For the description of inspiratory capacity and of all indices which include this volume (e.g. vital capacity, total lung capacity and transfer factor), additional precision is secured by adding to the regression equation on stature a term for fat-free mass or body mass divided by the square of the stature; for the description of functional residual capacity, the inclusion of a term for % body fat similarly reduces the variance about the regression equation. The difference in lung function between boys and girls is smaller when the function is related to stature than to sitting height. It is further reduced when fat-free mass/sature and % body fat are also included in the prediction equations. The equations may be used to obtain reference values for indices of lung function in similar subjects.

  16. MANAGEMENT OF ENDOCRINE DISEASE: Growth and growth hormone therapy in short children born preterm.

    PubMed

    Boguszewski, Margaret Cristina da Silva; Cardoso-Demartini, Adriane de Andre

    2017-03-01

    Approximately 15 million babies are born preterm across the world every year, with less than 37 completed weeks of gestation. Survival rates increased during the last decades with the improvement of neonatal care. With premature birth, babies are deprived of the intense intrauterine growth phase, and postnatal growth failure might occur. Some children born prematurely will remain short at later ages and adult life. The risk of short stature increases if the child is also born small for gestational age. In this review, the effects of being born preterm on childhood growth and adult height and the hormonal abnormalities possibly associated with growth restriction are discussed, followed by a review of current information on growth hormone treatment for those who remain with short stature during infancy and childhood.

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

    PubMed

    de Oliveira, Victor Hugo; Quintana-Domeque, Climent

    2014-12-01

    We study the relationship between environmental conditions at birth (GDP per capita and infant mortality rate) and adult stature using cohort-state level data in Brazil for the period 1950-1980. We find that GDP per capita, whose annual percentage growth rate was 4.8% during this period, not infant mortality rate, is a robust correlate of population stature in Brazil. Our results are robust to a battery of robustness checks. Using a useful bracketing property of the (state) fixed effects and lagged dependent variables (heights) estimators, we find that an increase in GDP per capita of the magnitude corresponding to that period is associated with 43-68% of the increase in adult height occurring in the same time span. Income, not disease, appears to be the main correlate of Brazilian population heights in the second half of the 20th Century.

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

    PubMed

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

    2015-05-07

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

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

    PubMed Central

    McGovern, Mark E.

    2014-01-01

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

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

    SciTech Connect

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

    1995-09-11

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

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

    PubMed

    Schultz, Stewart T; Scofield, Douglas G

    2009-08-01

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

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

    PubMed

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

    2015-07-23

    Homozygosity has long been associated with rare, often devastating, Mendelian disorders, and Darwin was one of the first to recognize that inbreeding reduces evolutionary fitness. However, the effect of the more distant parental relatedness that is common in modern human populations is less well understood. Genomic data now allow us to investigate the effects of homozygosity on traits of public health importance by observing contiguous homozygous segments (runs of homozygosity), which are inferred to be homozygous along their complete length. Given the low levels of genome-wide homozygosity prevalent in most human populations, information is required on very large numbers of people to provide sufficient power. Here we use runs of homozygosity to study 16 health-related quantitative traits in 354,224 individuals from 102 cohorts, and find statistically significant associations between summed runs of homozygosity and four complex traits: height, forced expiratory lung volume in one second, general cognitive ability and educational attainment (P < 1 × 10(-300), 2.1 × 10(-6), 2.5 × 10(-10) and 1.8 × 10(-10), respectively). In each case, increased homozygosity was associated with decreased trait value, equivalent to the offspring of first cousins being 1.2 cm shorter and having 10 months' less education. Similar effect sizes were found across four continental groups and populations with different degrees of genome-wide homozygosity, providing evidence that homozygosity, rather than confounding, directly contributes to phenotypic variance. Contrary to earlier reports in substantially smaller samples, no evidence was seen of an influence of genome-wide homozygosity on blood pressure and low density lipoprotein cholesterol, or ten other cardio-metabolic traits. Since directional dominance is predicted for traits under directional evolutionary selection, this study provides evidence that increased stature and cognitive function have been positively selected in human

  3. 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.

  4. Possible relationship between elevated plasma ACTH and tall stature in familial glucocorticoid deficiency.

    PubMed

    Imamine, Hiroki; Mizuno, Haruo; Sugiyama, Yukari; Ohro, Yoichiro; Sugiura, Tokio; Togari, Hajime

    2005-02-01

    Familial glucocorticoid deficiency (FGD) is characterized clinically by severe glucocorticoid deficiency associated with failure of adrenal responsiveness to ACTH but not with mineralcorticoid deficiency. Excessive growth was described previously in some patients with FGD, many of whom were shown to have mutations in the ACTH receptor gene. The mechanisms responsible for their excessive growth are unknown. We analyzed the ACTH receptor gene in three patients with FGD and discussed the causes of excessive growth in FGD. No mutations were detected in the coding and promoter regions of the ACTH receptor gene of one female patient who had tall stature (+ 2.41S.D.) and advanced bone age (10 years 9 months) when she was 4 years 9 months old. Her plasma ACTH level had been elevated until then (124-2,684 pg/ml). Moreover, plasma estradiol was elevated for her age (21.3 pg/ml), and it decreased in response to the dexamethasone suppression test (from 25.4 to 6.9 pg/ml). Elevated plasma estradiol was apparently related to the increase in plasma ACTH and played a major role in excessive growth in this patient. On the other hand, the genetic analysis showed that the other two patients who were siblings were homozygous for the R137W mutation. Clinically, they responded well to hydrocortisone replacement therapy with almost normal plasma ACTH levels. Although all patients with the R137W mutation reported previously were tall, our patients were of normal height. We speculate that the major causes of excessive growth in FGD are not only from ACTH receptor mutation, but also from the action of elevated plasma ACTH.

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

    PubMed

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

    2014-07-18

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

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

    PubMed

    Jungers, W L

    1988-06-01

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

  7. Short philtrum

    MedlinePlus

    ... caused by: Chromosome 18q deletion syndrome Cohen syndrome DiGeorge syndrome Oral-facial-digital syndrome (OFD) Home Care ... short philtrum, you may want to note that diagnosis in your personal medical record. Images The face ...

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

    PubMed Central

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

    2012-01-01

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

  9. Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.

    PubMed

    Thevenon, J; Duplomb, L; Phadke, S; Eguether, T; Saunier, A; Avila, M; Carmignac, V; Bruel, A-L; St-Onge, J; Duffourd, Y; Pazour, G J; Franco, B; Attie-Bitach, T; Masurel-Paulet, A; Rivière, J-B; Cormier-Daire, V; Philippe, C; Faivre, L; Thauvin-Robinet, C

    2016-12-01

    The 13 subtypes of oral-facial-digital syndrome (OFDS) belong to the heterogeneous group of ciliopathies. Disease-causing genes encode for centrosomal proteins, components of the transition zone or proteins implicated in ciliary signaling. A unique consanguineous family presenting with an unclassified OFDS with skeletal dysplasia and brachymesophalangia was explored. Homozygosity mapping and exome sequencing led to the identification of a homozygous mutation in IFT57, which encodes a protein implicated in ciliary transport. The mutation caused splicing anomalies with reduced expression of the wild-type transcript and protein. Both anterograde ciliary transport and sonic hedgehog signaling were significantly decreased in subjects' fibroblasts compared with controls. Sanger sequencing of IFT57 in 13 OFDS subjects and 12 subjects with Ellis-Van Creveld syndrome was negative. This report identifies the implication of IFT57 in human pathology and highlights the first description of a ciliary transport defect in OFDS, extending the genetic heterogeneity of this subgroup of ciliopathies.

  10. 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…

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

    PubMed

    Smith, Duncan D; Sperry, John S

    2014-12-01

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

  12. 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

    2015-06-16

    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.

  13. 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

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

    PubMed

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

    2006-08-01

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

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

    SciTech Connect

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

    1994-09-01

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

  16. 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.

  17. 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.

  18. 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.

  19. Changing patterns of social variation in stature in Poland: effects of transition from a command economy to the free-market system?

    PubMed

    Bielicki, T; Szklarska, A; Kozieł, S; Ulijaszek, S J

    2005-07-01

    The aim of this analysis was to examine the effects on stature in two nationally representative samples of Polish 19-year-old conscripts of maternal and paternal education level, and of degree of urbanization, before and after the economic transition of 1990. Data were from two national surveys of 19-year-old Polish conscripts: 27,236 in 1986 and 28,151 in 2001. In addition to taking height measurements, each subject was asked about the socioeconomic background of their families, including paternal and maternal education, and the name of the locality of residence. The net effect of each of these social factors on stature was determined using four-factor analysis of variance. The secular trend towards increased stature of Polish conscripts has slowed down from a rate 2.1 cm per decade across the period 1965-1986 to 1.5 cm per decade between 1986 and 2001. In both cohorts, mean statures increase with increasing size of locality of residence, paternal education and maternal education. The effect of each of these three social factors on conscript height is highly significant in both cohorts. However, the effect of maternal education has increased substantially while that of size of locality of residence and paternal education diminished between 1986 and 2001. These results imply that the influence of parental education on child growth cannot be due solely to a relationship between education and income, but is also perhaps a reflection of household financial management which benefits child health and growth by better educated parents, regardless of level of income. In addition they suggest that, irrespective of whether there are one or two breadwinners in the family, it is the mother, more so than the father, who is principally responsible for the extent to which such management best favours child health and growth. The asymmetry between the importance of maternal as against paternal education for child growth, clearly seen in the 1986 cohort, became more accentuated in

  20. 1p36 deletion syndrome confirmed by fluorescence in situ hybridization and array-comparative genomic hybridization analysis

    PubMed Central

    Kang, Dong Soo; Shin, Eunsim

    2016-01-01

    Pediatric epilepsy can be caused by various conditions, including specific syndromes. 1p36 deletion syndrome is reported in 1 in 5,000–10,000 newborns, and its characteristic clinical features include developmental delay, mental retardation, hypotonia, congenital heart defects, seizure, and facial dysmorphism. However, detection of the terminal deletion in chromosome 1p by conventional G-banded karyotyping is difficult. Here we present a case of epilepsy with profound developmental delay and characteristic phenotypes. A 7-year- and 6-month-old boy experienced afebrile generalized seizure at the age of 5 years and 3 months. He had recurrent febrile seizures since 12 months of age and showed severe global developmental delay, remarkable hypotonia, short stature, and dysmorphic features such as microcephaly; small, low-set ears; dark, straight eyebrows; deep-set eyes; flat nasal bridge; midface hypoplasia; and a small, pointed chin. Previous diagnostic work-up, including conventional chromosomal analysis, revealed no definite causes. However, array-comparative genomic hybridization analysis revealed 1p36 deletion syndrome with a 9.15-Mb copy loss of the 1p36.33-1p36.22 region, and fluorescence in situ hybridization analysis (FISH) confirmed this diagnosis. This case highlights the need to consider detailed chromosomal study for patients with delayed development and epilepsy. Furthermore, 1p36 deletion syndrome should be considered for patients presenting seizure and moderate-to-severe developmental delay, particularly if the patient exhibits dysmorphic features, short stature, and hypotonia. PMID:28018437

  1. 1p36 deletion syndrome confirmed by fluorescence in situ hybridization and array-comparative genomic hybridization analysis.

    PubMed

    Kang, Dong Soo; Shin, Eunsim; Yu, Jeesuk

    2016-11-01

    Pediatric epilepsy can be caused by various conditions, including specific syndromes. 1p36 deletion syndrome is reported in 1 in 5,000-10,000 newborns, and its characteristic clinical features include developmental delay, mental retardation, hypotonia, congenital heart defects, seizure, and facial dysmorphism. However, detection of the terminal deletion in chromosome 1p by conventional G-banded karyotyping is difficult. Here we present a case of epilepsy with profound developmental delay and characteristic phenotypes. A 7-year- and 6-month-old boy experienced afebrile generalized seizure at the age of 5 years and 3 months. He had recurrent febrile seizures since 12 months of age and showed severe global developmental delay, remarkable hypotonia, short stature, and dysmorphic features such as microcephaly; small, low-set ears; dark, straight eyebrows; deep-set eyes; flat nasal bridge; midface hypoplasia; and a small, pointed chin. Previous diagnostic work-up, including conventional chromosomal analysis, revealed no definite causes. However, array-comparative genomic hybridization analysis revealed 1p36 deletion syndrome with a 9.15-Mb copy loss of the 1p36.33-1p36.22 region, and fluorescence in situ hybridization analysis (FISH) confirmed this diagnosis. This case highlights the need to consider detailed chromosomal study for patients with delayed development and epilepsy. Furthermore, 1p36 deletion syndrome should be considered for patients presenting seizure and moderate-to-severe developmental delay, particularly if the patient exhibits dysmorphic features, short stature, and hypotonia.

  2. 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.

  3. Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality.

    PubMed

    Manassero-Morales, Gioconda; Alvarez-Manassero, Denisse; Merino-Luna, Alfredo

    2016-01-01

    Introduction. The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is very rare; it is even more rare to find the presence of a double monoclonal chromosomal abnormality. Objective. To report a unique case of double monoclonal chromosomal abnormality with trisomy of chromosome 21 and an X ring chromosome in all cells studied; no previous report has been found. Case Report. Female, 28 months old, with pathological short stature from birth, with the following dysmorphic features: tilted upward palpebral fissures, short neck, brachycephaly, and low-set ears. During the neonatal period, the infant presented generalized hypotonia and lymphedema of hands and feet. Karyotype showed 47,X,r(X),+21 [30]. Conclusion. Clinical features of both Down and Turner syndromes were found, highlighting short stature that has remained below 3 z score from birth to the present, associated with delayed psychomotor development. G-banded karyotype analysis in peripheral blood is essential for a definitive diagnosis.

  4. Short bowel syndrome

    MedlinePlus

    Small intestine insufficiency; Short gut syndrome; Necrotizing enterocolitis - short bowel ... The small intestine absorbs much of the nutrients found in foods we eat. When one half or more of our small ...

  5. 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 ...

  6. Mitral and tricuspid valve surgery for Coffin-Lowry syndrome.

    PubMed

    Yoshida, Takeshi; Ohashi, Takeki; Furui, Masato; Kageyama, Souichirou; Kodani, Noriko; Kobayashi, Yutaka; Hirai, Yasutaka; Sakakura, Reo

    2015-05-01

    Coffin-Lowry syndrome is a rare X-linked disorder characterized by craniofacial and skeletal abnormalities, mental retardation, short stature, and hypotonia. An 18-year-old man with morphologic features characteristic of Coffin-Lowry syndrome was referred to our institution for valve disease surgery for worsening cardiac failure. Echocardiography showed severe mitral valve regurgitation associated with tricuspid valve regurgitation. Mitral valve implantation with a biological valve and tricuspid annular plication with a ring was performed. The ascending aorta was hypoplastic. Both the mitral papillary muscle originating near the mitral annulus and the chordae were shortened. The patient's postoperative course was uneventful and his cardiac failure improved.

  7. Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management.

    PubMed

    Avila, Magali; Dyment, David A; Sagen, Jørn V; St-Onge, Judith; Moog, Ute; Chung, Brian H Y; Mansour, Sahar; Albanese, Assunta; Garcia, Sixto; Ortiz Martin, David; Lopez, Ainhoa Abad; Claudi, Tor; König, Rainer; White, Susan M; Sawyer, Sarah L; Bernstein, Jon A; Slattery, Leah; Jobling, Rebekah K; Yoon, Grace; Curry, Cynthia J; Le Merrer, Martine; Le Luyer, Bernard; Héron, Delphine; Mathieu-Dramard, Michèle; Bitoun, Pierre; Odent, Sylvie; Amiel, Jeanne; Kuentz, Paul; Thevenon, Julien; Laville, Martine; Reznik, Yves; Fagour, Cédric; Nunes, Marie-Laure; Delesalle, Dorothée; Manouvrier, Sylvie; Lascols, Olivier; Huet, Frédéric; Binquet, Christine; Faivre, Laurence; Rivière, Jean-Baptiste; Vigouroux, Corinne; Njølstad, Pål Rasmus; Innes, A Micheil; Thauvin-Robinet, Christel

    2015-10-24

    SHORT syndrome has historically been defined by its acronym: short stature (S), hyperextensibility of joints and/or inguinal hernia (H), ocular depression (O), Rieger abnormality (R) and teething delay (T). More recently several research groups have identified PIK3R1 mutations as responsible for SHORT syndrome. Knowledge of the molecular etiology of SHORT syndrome has permitted a reassessment of the clinical phenotype. The detailed phenotypes of 32 individuals with SHORT syndrome and PIK3R1 mutation, including eight newly ascertained individuals, were studied to fully define the syndrome and the indications for PIK3R1 testing. The major features described in the SHORT acronym were not universally seen and only half (52%) had 4 or more of the classic features. The commonly observed clinical features of SHORT syndrome seen in the cohort included IUGR < 10(th) percentile, postnatal growth restriction, lipoatrophy and the characteristic facial gestalt. Anterior chamber defects and insulin resistance or diabetes were also observed but were not as prevalent. The less specific, or minor features of SHORT syndrome include teething delay, thin wrinkled skin, speech delay, sensorineural deafness, hyperextensibility of joints and inguinal hernia. Given the high risk of diabetes mellitus, regular monitoring of glucose metabolism is warranted. An echocardiogram, ophthalmological and hearing assessments are also recommended.

  8. 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

  9. Paediatric short case examination.

    PubMed

    Isaacs, David

    2014-11-01

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

  10. Treatment of precocious puberty in a female with Prader-Willi syndrome.

    PubMed

    Pusz, Erin Rose; Rotenstein, Deborah

    2008-05-01

    Prader-Willi syndrome (PWS) is characterized by neonatal hypotonia, hyperphagia, childhood obesity at an early age, short stature, varying degrees of mental deficiency, and hypogonadism. In PWS, puberty is usually delayed and fails to complete, with most females never having regular menstrual cycles. We report a female patient with uniparental disomy, who experienced precocious puberty with menarche at age 8 years. The patient was treated with luteinizing hormone releasing hormone (LHRH) analog, which suppressed pubertal development. From our search of the literature this is the first application of LHRH analog to a female PWS patient for precocious puberty. Use of LHRH analog along with recombinant human growth hormone (rhGH) permitted stature closer to target height. The clinical course of this patient with PWS underscores the need for individualized treatment.

  11. Shortness of Breath

    MedlinePlus

    Symptoms Shortness of breath By Mayo Clinic Staff Few sensations are as frightening as not being able to get enough air. Shortness of breath — known medically as dyspnea — is often described as an intense tightening in the chest, air hunger or a ...

  12. Case of congenital short small intestine: survival with use of long-term parenteral feeding.

    PubMed

    Dorney, S F; Byrne, W J; Ament, M E

    1986-03-01

    Isolated congenital short small intestine is a rare anomaly. Of six (one male, five females) previously reported cases, four died in infancy from intractable diarrhea. We report the case of 7-year-old boy with this syndrome in whom a 2-year period of parenteral feeding at home allowed normal weight gain, growth, and development while intestinal adaptation occurred. Parenteral feeding was discontinued at age 2 1/3 years, and for the past 5 years his weight has remained between the tenth and 25th percentiles and his stature between the 25th and 50th percentiles. His development has been normal and he functions at or above grade level at school. Coefficient of fat absorption has increased from 54% to 81%. Vitamin B12 absorption has improved but has not normalized. He remains lactose intolerant. We believe his survival, growth, and development would have been compromised if he had not received a prolonged period of parenteral feeding.

  13. 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

  14. Melanocortin-4 Receptor Deficiency Phenotype with an Interstitial 18q Deletion: A Case Report of Severe Childhood Obesity and Tall Stature

    PubMed Central

    Harrison, Karen J.

    2016-01-01

    Childhood obesity is a growing health concern, associated with significant physical and psychological morbidity. Childhood obesity is known to have a strong genetic component, with mutations in the melanocortin-4 receptor (MC4R) gene being the most common monogenetic cause of obesity. Over 166 different MC4R mutations have been identified in persons with hyperphagia, severe childhood obesity, and increased linear growth. However, it is unclear whether the MC4-R deficiency phenotype is due to haploinsufficiency or dominant-negative effects by the mutant receptor. We report the case of a four-and-a-half-year-old boy with an interstitial deletion involving the long arm of chromosome 18 (46,XY,del(18)(q21.32q22.1)) encompassing the MC4R gene. This patient presented with tall stature and hyperphagia within his first 18 months of life leading to significant obesity. This case supports haploinsufficiency of MC4-R as it describes a MC4-R deficiency phenotype in a patient heterozygous for a full MC4R gene deletion. The intact functional allele with MC4-R haploinsufficiency has the potential to favor a therapeutic response to gastric surgery. Currently, small molecule MC4-R agonists are under development for pharmacologic therapy. PMID:27738543

  15. 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

  16. Short pulse test set

    NASA Astrophysics Data System (ADS)

    1990-11-01

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

  17. 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)

  18. Short wavelength FELS

    SciTech Connect

    Sheffield, R.L.

    1991-01-01

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

  19. 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…

  20. 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.

  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. 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.

  3. Assessment of ghrelin, leptin, orexin A and alpha-MSH serum concentrations and the levels of the autoantibodies against the aforementioned peptides in relation to Helicobacter pylori infections and Candida albicans colonization in children with short stature.

    PubMed

    Stawerska, Renata; Czkwianianc, Elżbieta; Matusiak, Agnieszka; Smyczyńska, Joanna; Hilczer, Maciej; Chmiela, Magdalena; Lewiński, Andrzej

    2016-06-08

    Wstęp. Peptydy produkowane w przewodzie pokarmowym, tkance tłuszczowej i w mózgu odgrywają ważną rolę w wydzielaniu hormonu wzrostu (GH) oraz regulacji przyjmowania posiłków. Zgodnie z hipotezą molekularnego podobieństwa antygeny mikroorganizmów bytujących w przewodzie pokarmowym mogą stać się mechanizmem spustowym dla produkcji przeciwciał, które reagują krzyżowo z peptydami regulatorowymi i modyfikują ich działanie. Celem pracy była ocena stężenia greliny, leptyny, oreksynyA i αMSH oraz poziomu przeciwciał skierowanych przeciwko wymienionym peptydom u dzieci z idiopatycznym niedoborem wzrostu (ISS) i niedoborem GH (GHD) w odniesieniu do infekcji Helicobacter pylori (H.pylori) i zasiedlenia Candida albicans (C.albicans). Materiał i metody. Analiza obejmowała 89 dzieci z niedoborem wzrostu (w wieku 10,24±3,52 lat): 64 z ISS i 25 z GHD oraz 36 dzieci prawidłowego wzrostu (grupa kontrolna) (w wieku 11,41±2,72 lat). U każdego dziecka oceniono w surowicy stężenie greliny, leptyny, oreksynyA i αMSH (alpha-melanocyte-stimulating hormone), poziom przeciwciał IgG skierowanych przeciwko wymienionym peptydom oraz przeciwko H.pylori, zaś obecność C.albicans na podstawie badania próbki kału. Grupa kontrolna została dobrana tak, aby częstość występowania infekcji H.pylori i zasiedlenia C.albicans była podobna do grupy badanej. Wyniki. Poziom przeciwciał IgG przeciwko grelinie i leptynie był znamiennie wyższy w grupie ISS niż w grupie kontrolnej. Stężenie greliny było istotnie wyższe u dzieci z GHD niż w grupie kontrolnej, zaś stężenie leptyny (jak również wskaźnik masy ciała) istotnie niższe w grupie ISS niż w grupach GHD i kontrolnej. Nie wykazano różnic pomiędzy grupami w odniesieniu do stężenia oreksynyA i αMSH ani przeciwciał skierowanych przeciwko nim. Wnioski. Podwyższony poziom przeciwciał skierowanych przeciwko grelinie i leptynie u dzieci z ISS jest związany z upośledzeniem wzrastania i gorszymi przyrostami masy ciała, prawdopodobnie poprzez modyfikację aktywności greliny i leptyny. Możliwe, że te przeciwciała reagują krzyżowo z peptydami na skutek molekularnego podobieństwa między wymienionymi peptydami a H.pylori i C.albicans, jednak potrzebne są dalsze badania wyjaśniające tę kwestię.

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

    PubMed

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

    2011-01-01

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

  5. Short bowel syndrome.

    PubMed

    Wilmore, D W; Robinson, M K

    2000-12-01

    The short bowel syndrome is a symptom complex that occurs in adults who have less than 200 cm of jejunum-ileum remaining after intestinal resection. Similar symptoms are observed in infants and children following massive bowel resection or congenital anomalies and in individuals with longer segments of intestine with severe mucosal disease. Initial care should focus on a thorough excision of nonviable bowel, an exact measurement of the remaining viable bowel, placing all intestine in continuity at the initial or subsequent operation, and controlling initial food intake. With time, adaptation of the remnant intestine occurs, and absorptive function may be maximized by enhancing the enteral diet and minimizing parenteral nutrition. Growth factors and specialized nutrients may also enhance this process. Intestinal transplantation should be considered in selected individuals with the short bowel syndrome who fail intestinal rehabilitation protocols.

  6. Short pulse neutron generator

    SciTech Connect

    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.

  7. 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.

  8. 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.

  9. Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology.

    PubMed

    Borochowitz, Z; Langer, L O; Gruber, H E; Lachman, R; Katznelson, M B; Rimoin, D L

    1993-02-01

    We report on a "new" severe short-limb bone dysplasia which can be labeled descriptively a spondylo-meta-epiphyseal dysplasia. The 3 patients were born to 2 unrelated Sepharadic Jewish families and a Puerto Rican family. Clinical abnormalities include small stature with short limbs including short hands, a short nose with wide nasal bridge and wide nostrils, a long philtrum, ocular hypertelorism, retro/micrognathia, and a narrow chest. Radiological abnormalities include platyspondyly, short tubular bones with very abnormal metaphyses and epiphyses beyond early infancy, short ribs, and a typical evolution of bony changes over time. Chondroosseous morphology and ultrastructure document sparse matrix and degenerating chondrocytes surrounded by dense amorphous material in the 1 patient studied. Consanguinity is present in 1 family. In addition to the described patient, 2 other short-limb sibs, who did not survive infancy, were born into this family. Even in the absence of any photographic or radiologic documentation of these other 2 infants, autosomal recessive mode of inheritance seems probable.

  10. 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.

  11. Short bowel syndrome.

    PubMed

    Donohoe, Claire L; Reynolds, John V

    2010-10-01

    The short bowel syndrome (SBS) is a state of malabsorption following intestinal resection where there is less than 200 cm of intestinal length. The management of short bowel syndrome can be challenging and is best managed by a specialised multidisciplinary team. A good understanding of the pathophysiological consequences of resection of different portions of the small intestine is necessary to anticipate and prevent, where possible, consequences of SBS. Nutrient absorption and fluid and electrolyte management in the initial stages are critical to stabilisation of the patient and to facilitate the process of adaptation. Pharmacological adjuncts to promote adaptation are in the early stages of development. Primary restoration of bowel continuity, if possible, is the principle mode of surgical treatment. Surgical procedures to increase the surface area of the small intestine or improve its function may be of benefit in experienced hands, particularly in the paediatric population. Intestinal transplant is indicated at present for patients who have failed to tolerate long-term parenteral nutrition but with increasing experience, there may be a potentially expanded role for its use in the future.

  12. 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

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

    SciTech Connect

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

    1995-04-01

    Cleidocranial dysplasia (CCD) is an autosomal dominant generalized bone dysplasia characterized by mild-to-moderate short stature, clavicular aplasia or hypoplasia, supernumerary and ectopic teeth, delayed eruption of secondary teeth, a characteristic craniofacial appearance, and a variety of other skeletal anomalies. We have performed linkage studies in five families with CCD, with 24 affected and 20 unaffected individuals, using microsatellite markers spanning two candidate regions on chromosomes 8q and 6. The strongest support for linkage was with chromosome 6p microsatellite marker D6S282 with a two-point lod score of 4.84 ({theta} = .03). Furthermore, the multipoint lod score was 5.70 in the interval between D6S282 and D6S291. These data show that the gene for autosomal dominant CCD is located within a 19-cM interval on the short arm of chromosome 6, between D6S282 and D6S291. 25 refs., 3 figs., 1 tab.

  14. Cell short circuit, preshort signature

    NASA Technical Reports Server (NTRS)

    Lurie, C.

    1980-01-01

    Short-circuit events observed in ground test simulations of DSCS-3 battery in-orbit operations are analyzed. Voltage signatures appearing in the data preceding the short-circuit event are evaluated. The ground test simulation is briefly described along with performance during reconditioning discharges. Results suggest that a characteristic signature develops prior to a shorting event.

  15. Short QT syndrome.

    PubMed

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

    2005-08-15

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

  16. 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

  17. An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.

    PubMed

    Bremer, Anna; Schoumans, Jacqueline; Nordenskjöld, Magnus; Anderlid, Britt-Marie; Giacobini, Maibritt

    2009-01-01

    Seven cases with an interstitial deletion of the short arm of chromosome 6 involving the 6p22 region have previously been reported. The clinical phenotype of these cases includes developmental delay, brain-, heart-, and kidney defects, eye abnormalities, short neck, craniofacial malformations, hypotonia, as well as clinodactyly or syndactyly. Here, we report a patient with a 7.1Mb interstitial deletion of chromosome band 6p22.3, detected by genome-wide screening array CGH. The patient is a 4-year-old girl with developmental delay and dysmorphic features including eye abnormalities, short neck, and a ventricular septum defect. The deleted region at 6p22.3 in our patient overlaps with six out of the seven previously reported cases with a 6p22-24 interstitial deletion. This enabled us to further narrow down the critical region for the 6p22 deletion phenotype to 2.2Mb. Twelve genes are mapped to the overlapping deleted region, among them the gene encoding the ataxin-1 protein, the ATXN1 gene. Mice with homozygous deletions in ATXN1 are phenotypically normal but show cognitive delay. Haploinsufficiency of ATXN1 may therefore contribute to the learning difficulties observed in the patients harboring a 6p22 deletion.

  18. 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.

  19. Enhancing Discussion through Short Stories.

    ERIC Educational Resources Information Center

    Marcus, Sybil

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

  20. 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…

  1. 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.

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

    PubMed Central

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

    2011-01-01

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

  3. 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.

  4. 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.

  5. Cri du chat mosaicism: an unusual case of partial deletion and partial deletion/ duplication of the short arm of chromosome 5, leading to an unusual cri du chat phenotype.

    PubMed

    Murru, D; Boccone, L; Ristaldi, M S; Nucaro, A L

    2008-01-01

    The Cri du Chat Syndrome (CdCS) is one of the most common deletion syndromes, involving the short arm of chromosome 5, with an incidence of 1 in 50.000 live births. The following are the characteristic features of this syndrome: microcephaly, hypertelorism, round face, micrognatia, epicanthic folds, prominent nasal bridge, hypotonia and severe psychomotor retardation. Patients also show a high pitched cry similar to the mewing of a cat. Deletions and duplications of chromosome 5p have been described in the literature. Mosaicism represents only 3% of this cytogenetic aberration. Up to date, only cases of de novo 5p mosaic anomalies involving two or three rearranged cell lines, with deletions and duplications, have been described. Herein, we report the first case of a patient affected by multiple congenital anomalies and a mosaicism, with two rearranged cell lines: one with a 5p deletion; the other with a 5p deletion/duplication. Our patient did not show the characteristic features described in patients with 5p duplications, but a phenotype compatible with the CdCS. Our case represents the first description of a mosaicism with deletion and deletion/duplication of a portion of the short arm of chromosome 5.

  6. The Arabidopsis pi4kIIIβ1β2 double mutant is salicylic acid-overaccumulating: a new example of salicylic acid influence on plant stature

    PubMed Central

    Janda, Martin; Šašek, Vladimír; Ruelland, Eric

    2014-01-01

    Growth is the best visible sign of plant comfort. If plants are under stress, a difference in growth with control conditions can indicate that something is going wrong (or better). Phytohormones such as auxin, cytokinins, brassinosteroids or giberellins, are important growth regulators and their role in plant growth was extensively studied. On the other hand the role of salicylic acid (SA), a phytohormone commonly connected with plant defense responses, in plant growth is under-rated. However, studies with SA-overaccumulating mutants directly showed an influence of SA on plant growth. Recently we characterized an Arabidopsis SA-overaccumulating mutant impaired in phosphatidylinositol-4-kinases (pi4kIIIβ1β2). This mutant is dwarf. The crossing with mutants impaired in SA signaling revealed that pi4kIIIβ1β2 stunted rosette is due to high SA, while the short root length is not. This brings into evidence that upper and lower parts of the plants, even though they may share common phenotypes, are differently regulated. PMID:25482755

  7. 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.

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

    PubMed

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

    2009-01-01

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

  9. 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.

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

    PubMed Central

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

    2013-01-01

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

  11. Evidence for genetic modifiers of postnatal lethality in PWS-IC deletion mice.

    PubMed

    Chamberlain, Stormy J; Johnstone, Karen A; DuBose, Amanda J; Simon, Thomas A; Bartolomei, Marisa S; Resnick, James L; Brannan, Camilynn I

    2004-12-01

    Prader-Willi syndrome (PWS), most notably characterized by infantile hypotonia, short stature and morbid obesity, results from deficiencies in multiple genes that are subject to genomic imprinting. The usefulness of current mouse models of PWS has been limited by postnatal lethality in affected mice. Here, we report the survival of the PWS-imprinting center (IC) deletion mice on a variety of strain backgrounds. Expression analyses of the genes affected in the PWS region suggest that while there is low-level expression from both parental alleles in PWS-IC deletion pups, this expression does not explain their survival on certain strain backgrounds. Rather, the data provide evidence for strain-specific modifier genes that support the survival of PWS-IC deletion mice.

  12. Prader-Willi syndrome.

    PubMed

    Cassidy, Suzanne B; Driscoll, Daniel J

    2009-01-01

    Prader-Willi syndrome (PWS) is a highly variable genetic disorder affecting multiple body systems whose most consistent major manifestations include hypotonia with poor suck and poor weight gain in infancy; mild mental retardation, hypogonadism, growth hormone insufficiency causing short stature for the family, early childhood-onset hyperphagia and obesity, characteristic appearance, and behavioral and sometimes psychiatric disturbance. Many more minor characteristics can be helpful in diagnosis and important in management. PWS is an example of a genetic condition involving genomic imprinting. It can occur by three main mechanisms, which lead to absence of expression of paternally inherited genes in the 15q11.2-q13 region: paternal microdeletion, maternal uniparental disomy, and imprinting defect.

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

    PubMed

    Al Mosawi, A J; Fewin, L

    2009-10-01

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

  14. Additional case of Marden-Walker syndrome: support for the autosomal-recessive inheritance adn refinement of phenotype in a surviving patient.

    PubMed

    Orrico, A; Galli, L; Zappella, M; Orsi, A; Hayek, G

    2001-02-01

    In this report, we present a 14-year-old girl, born to consanguineous parents, who presented with severe mental retardation, hypotonia, short stature, and congenital joint contractures. The craniofacial features were scaphocephaly, thin/long and immobile face, marked hypoplasia of the midface, temporal narrowness, blepharophimosis, palpebral ptosis, and strabismus. The combination of such a distinctive craniofacial appearance and psychomotor retardation allows us to recognize a new case of the Marden-Walker syndrome. Our patient represents one of the rare cases in which consanguineous mating supports the autosomal-recessive pattern of inheritance of this condition. Furthermore, through refining the phenotype of a surviving patient, this report may contribute to a better recognition of this disorder in older affected children.

  15. 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

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

    PubMed

    Stembalska, Agnieszka; Jakubiak, Aleksandra; Śmigiel, Robert

    2012-01-01

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

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

    PubMed

    Tug, E; Cine, N; Aydin, H

    2011-01-01

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

  18. Short-range Fundamental forces

    SciTech Connect

    Antoniadis, I; Baessler, Stefan; Buechner, M; Fedorov, General Victor; Hoedl, S.; Lambrecht, A; Nesvizhevsky, V.; Pignol, G; Reynaud, S.; Sobolev, Yu.

    2011-01-01

    We consider theoretical motivations to search for extra short-range fundamental forces as well as experiments constraining their parameters. The forces could be of two types: (1) spin-independent forces; and (2) spin-dependent axion-like forces. Different experimental techniques are sensitive in respective ranges of characteristic distances. The techniques include measurements of gravity at short distances, searches for extra interactions on top of the Casimir force, precision atomic and neutron experiments. We focus on neutron constraints, thus the range of characteristic distances considered here corresponds to the range accessible for neutron experiments.

  19. 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

  20. Short-term energy outlook

    SciTech Connect

    Not Available

    1990-11-07

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

  1. Pick of the (Short) Flicks.

    ERIC Educational Resources Information Center

    McLaughlin, Frank, Ed.

    1967-01-01

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

  2. 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.

  3. [Australian short-beaked echidna].

    PubMed

    Rismiller, P

    1995-12-01

    The Australian short-beaked echidna, a monotreme, is one of the oldest living mammals on earth. It is recorded to be the most widely distributed native mammal on the island continent and classed as 'common'. Yet, little is known about its natural history and biology in the wild. What science has learned about the echidna in the past 200 years and why there are still large gaps is reported here.

  4. Deeper look into short strings

    NASA Astrophysics Data System (ADS)

    Gromov, Nikolay; Valatka, Saulius

    2012-03-01

    Using a recent conjecture of Basso we compute three leading nontrivial coefficients in the strong coupling expansion of the anomalous dimensions of short operators in the [InlineMediaObject not available: see fulltext.] sector of AdS/CFT. We show that our results are consistent with the numerical results obtained using the Y-system and TBA approach earlier thus providing further support to the Y-system conjecture.

  5. (Short articles on energy conservation)

    SciTech Connect

    Hodges, L.

    1985-01-01

    The following short articles are reprinted after being published in the Tri-County Times, Slater, Iowa, by Laurent Hodges of the Iowa State University Energy Extension Service: water power; small hydroelectric plants; condensation problems (three parts); energy quiz and answers; the airtight drywall approach; benefits of natural lighting; energy and Iowa's building code; heating, water heating and cooling costs in Iowa; the cost of keeping cool; and reducing the cost of keeping cool. (DLC)

  6. Tilt changes of short duration

    USGS Publications Warehouse

    McHugh, Stuart

    1976-01-01

    Section I of this report contains a classification scheme for short period tilt data. For convenience, all fluctuations in the local tilt field of less than 24 hours duration will be designated SP (i.e., short period) tilt events. Three basic categories of waveshape appearance are defined, and the rules for naming the waveforms are outlined. Examples from tilt observations at four central California sites are provided. Section II contains some coseismic tilt data. Fourteen earthquakes in central California, ranging in magnitude from 2.9 to 5.2, were chosen for study on four tiltmeters within 10 source dimensions of the epicenters. The raw records from each of the four tiltmeters at the times of the earthquakes were photographed and are presented in this section. Section III contains documentation of computer programs used in the analysis of the short period tilt data. Program VECTOR computes the difference vector of a tilt event and displays the sequence of events as a head-to-tail vector plot. Program ONSTSP 1) requires two component digitized tilt data as input, 2) scales and plots the data, and 3) computes and displays the amplitude, azimuth, and normalized derivative of the tilt amplitude. Program SHARPS computes the onset sharpness, (i.e., the normalized derivative of the tilt amplitude at the onset of the tilt event) as a function of source-station distance from a model of creep-related tilt changes. Program DSPLAY plots the digitized data.

  7. 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

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

    SciTech Connect

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

    1994-08-01

    Watershed liming has been suggested as a long-term mitigation strategy for lake acidity, particularly in areas subject to high levels of acidic deposition. However, virtually no information has been available on the impacts of liming on wetland vegetation. In 1989, 1100 Mg of limestone (83.5% CaCO[sub 3]) were aerially applied to 48% (100 ha) of the Woods Lake watershed in the west-central Adirondack region of New York as part of the first comprehensive watershed liming study in North America. We inventoried wetland vegetation in 1.0-m[sup 2] plots before liming and during the subsequent 2 yr. Within this period liming influenced the cover, frequency, or importance values of only 6 of 64 wetland taxa. The cover of Sphagnum spp. and of the cespitose sedge Carex interior decreased in control relative to limed plots, and cover of the rhizomatous sedge Cladium mariscoides increased nearly threefold in limed areas. These two sedges, which are relatively tall, are characteristic of more calcareous habitats. Cover of the grass Muhlenbergia uniflora, cover and importance were adversely affected or inhibited by lime. It is unclear whether liming directly inhibited the growth of these three small-statured species, or whether the adverse effects of lime were mediated through shifts in competitive interactions with other species. The limited responses that we observed to liming, along with changes that occurred in control plots over the study period, may indicate that in the short term watershed liming was no more of a perturbation than the environmental factors responsible for natural annual variation in wetland communities.

  9. 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.

  10. Conduction in short semiconductor structures

    NASA Astrophysics Data System (ADS)

    Sinkkonen, J.

    1983-12-01

    Low field mobility in short semiconductor structures decreases as a result of finite sample length. According to Kastalsky and Shur [1] the mobility scales down by a factor 1 - exp ( {-3η}/{2}) where η is the sample length divided by the mean free path. From a solution of Boltzmann equation we show that the scaling factor is more accurately given by {η}/{(η + α)} where α is between {4}/{3} and 2. Mobility decrease can be simply interpreted in terms of a finite contact resistance.

  11. 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.

  12. 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.

  13. 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.

  14. Short Pulse Laser Applications Design

    SciTech Connect

    Town, R J; Clark, D S; Kemp, A J; Lasinski, B F; Tabak, M

    2008-02-11

    We are applying our recently developed, LDRD-funded computational simulation tool to optimize and develop applications of Fast Ignition (FI) for stockpile stewardship. This report summarizes the work performed during a one-year exploratory research LDRD to develop FI point designs for the National Ignition Facility (NIF). These results were sufficiently encouraging to propose successfully a strategic initiative LDRD to design and perform the definitive FI experiment on the NIF. Ignition experiments on the National Ignition Facility (NIF) will begin in 2010 using the central hot spot (CHS) approach, which relies on the simultaneous compression and ignition of a spherical fuel capsule. Unlike this approach, the fast ignition (FI) method separates fuel compression from the ignition phase. In the compression phase, a laser such as NIF is used to implode a shell either directly, or by x rays generated from the hohlraum wall, to form a compact dense ({approx}300 g/cm{sup 3}) fuel mass with an areal density of {approx}3.0 g/cm{sup 2}. To ignite such a fuel assembly requires depositing {approx}20kJ into a {approx}35 {micro}m spot delivered in a short time compared to the fuel disassembly time ({approx}20ps). This energy is delivered during the ignition phase by relativistic electrons generated by the interaction of an ultra-short high-intensity laser. The main advantages of FI over the CHS approach are higher gain, a lower ignition threshold, and a relaxation of the stringent symmetry requirements required by the CHS approach. There is worldwide interest in FI and its associated science. Major experimental facilities are being constructed which will enable 'proof of principle' tests of FI in integrated subignition experiments, most notably the OMEGA-EP facility at the University of Rochester's Laboratory of Laser Energetics and the FIREX facility at Osaka University in Japan. Also, scientists in the European Union have recently proposed the construction of a new FI

  15. Inductively Shorted Bicone Fed Tapered Dipole Antenna

    DTIC Science & Technology

    2012-05-23

    Switching from a balun feed to a coaxial cable feed showed expected similar impedances for the shorted antenna with number 14 wire shorts. Switching ...possibility is to add broadband ferrite core chokes placed about the shorts 70 near their ends 50, 52, 54, 56, 58, 60 ,62, 64 to prevent antenna...currents from flowing onto the shorts. Some problems with this method are that ferrites have loss and limited bandwidth, and the resulting floating

  16. 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.

  17. 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.

  18. 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.

  19. 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.

  20. Short-fiber-reinforced thermoplastics

    SciTech Connect

    Tekkanat, B.

    1987-01-01

    One of the objectives of this study was to explore the simplest predictive theories for composite stiffness and strength in injection-molded SFRTP materials which would be easy to use and would be accurate over a wide range of materials. The intention was also to try to understand the predicted dependence of stiffness and strength on fiber length for SFRTP's. The effects of matrix ductility on the mechanical properties and failure mechanisms of SFRTP's were investigated by controlling the matrix ductility via composition in PS-PPO system. In addition to matrix ductility, consideration was given to the following parameters: fiber-length distribution (FLD), fiber-orientation distribution (FOD), fiber-volume fraction, aspect ratio, and fiber-end configuration to understand the role they play on the mechanical properties, efficiency of reinforcement, and failure mechanisms of SFRTP's. Sub-surface analysis by transmission optical microscopy under polarized light was utilized along with fracture surface analysis and found to be a useful technique in determining the detailed microdeformation mechanisms of both matrix and short-fiber-reinforced systems. Fiber-reinforcement efficiency in terms of both stiffness and strength was found to be strongly dependent on the fiber length and fiber-volume fraction.

  1. 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.

  2. Inertial Rise in Short Capillaries

    NASA Astrophysics Data System (ADS)

    Shardt, Orest; Waghmare, Prashant; Mitra, Sushanta; Derksen, Jos

    2013-11-01

    We investigate the primarily inertial rise of liquid in vertical glass capillaries that are shorter than the equilibrium rise height (Jurin height). We focus on the behavior of the liquid upon reaching the top of the capillary and use high-speed imaging to observe the motion of the liquid-air interface with high spatial and temporal resolution. We examine the dependence of the interface behavior on the meniscus speed and capillary height and describe a new phenomenon. Upon reaching the upper edge of a sufficiently short capillary, the meniscus inverts, rises upward, and bulges out radially. The bulging liquid then wets the external surface of the capillary and slides down. The meniscus inside the capillary retracts, falling below the upper edge, and then oscillates vertically with decaying amplitude, inverting several times before reaching a steady shape. A theoretical analysis is used to interpret the conditions required for this phenomenon to occur. A key assumption in the analysis is that the transient flow is inertial and therefore the capillary driving force is balanced by the weight and inertia of the rising liquid column while viscous forces are comparatively small. The analysis points to the possibility of obtaining previously-unseen behavior under reduced gravity.

  3. 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.

  4. Fatigue Growth and Closure of Short Cracks

    DTIC Science & Technology

    1989-06-03

    stLdy has been carried out to investigate the growth and closure behavior of shortýýcracks in 2024-T351 aluminum alloy and four different conditions of...that short cracks show lessclosure behavior than longcracks. The estimates of initlal.crack lengths based on linearelastic data were made. tThese...anomalous behavior of short cracks. Advances in small crack growth have enabled increasingly quantitative studies that affect initi- ation and growth at

  5. 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.

  6. 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…

  7. 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…

  8. Involving Students with the Short Story.

    ERIC Educational Resources Information Center

    Duke, Charles R.

    Although the short story is brief and seemingly simple to comprehend, experienced teachers know from painful experience that students often read without "seeing" and that the only way to get them to "see" is to isolate some of the elements of the short story and present them in a different way to focus attention on them. For example, to…

  9. 33 CFR 401.1 - Short title.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... 33 Navigation and Navigable Waters 3 2014-07-01 2014-07-01 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 the “Seaway Regulations (the “Practices...

  10. 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 the “Seaway Regulations (the “Practices...

  11. 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 the “Seaway Regulations (the “Practices...

  12. 33 CFR 401.1 - Short title.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... 33 Navigation and Navigable Waters 3 2012-07-01 2012-07-01 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 the “Seaway Regulations (the “Practices...

  13. 33 CFR 401.1 - Short title.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... 33 Navigation and Navigable Waters 3 2013-07-01 2013-07-01 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 the “Seaway Regulations (the “Practices...

  14. 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

  15. Gamma ray bursts: Short vs. long

    NASA Astrophysics Data System (ADS)

    Ghirlanda, G.; Nava, L.; Ghisellini, G.

    2011-04-01

    Short and long GRBs are thought to be two distinct classes based on their different duration and spectrum. Through the spectral analysis of two similarly selected samples of BATSE short and long GRBs, we show that short GRBs are harder than long events, confirming what found from the comparison of their hardness ratio. However, this spectral diversity seems to be due to a harder low energy spectral component of short GRBs, rather than a (slightly higher) peak energy. Interestingly short GRBs have a spectrum which is similar to the spectrum of the emission of the first 1-2 s of long events. We find evidence that short GRBs are inconsistent with the Epeak-Eiso correlation defined by long bursts while they follow the same Epeak-Liso correlation of long GRBs. These results, coupled to the similar variability timescale of short events and the first seconds of long ones, suggest that a common (or similar) dissipation mechanism could operate in both classes. The difference in the duration would then be due mainly to the central engine lifetime.

  16. High Power Short Wavelength Laser Development

    DTIC Science & Technology

    1977-11-01

    Unlimited güä^äsjäsiiiüüü X NRTC-77-43R P I High Power Short Wavelength Laser Development November 1977 D. B. Cohn and W. B. Lacina...NO NRTC-77-43R, «. TITLE fana »uetjjitj BEFORE COMPLETING FORM CIPIENT’S CATALOO NUMBER KIGH.POWER SHORT WAVELENGTH LASER DEVELOPMENT , 7...fWhtn Data Enterte NRTC-77-43R HIGH POWER SHORT WAVELENGTH LASER DEVELOPMENT ARPA Order Number: Program Code Number: Contract Number: Principal

  17. 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.

  18. A multidisciplinary approach to short bowel syndrome.

    PubMed

    Denegri, Andrea; Paparo, Francesco; Denegri, Roberto; Revelli, Matteo; Frascio, Marco; Rollandi, Gian Andrea; Fornaro, Rosario

    2014-01-01

    Short bowel syndrome is a complex clinical picture, characterized by signs and symptoms of malabsorption and subsequent malnutrition, which often occurs after extensive bowel resections. Short bowel syndrome's treatment must begin together with the planning of the first surgery, especially for disease that may need multiple interventions. Patients with short bowel should be individually managed because they all are different in diagnosis, length of the remaining bowel and in psychosocial characteristics. For all these reasons, a multidisciplinary approach between the various specialists is therefore needed.

  19. 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.

  20. Genetics Home Reference: short QT syndrome

    MedlinePlus

    ... short QT" refers to a specific pattern of heart activity that is detected with an electrocardiogram (EKG) , which is a test used to measure the electrical activity of the heart. In people with this condition, the part of ...

  1. Abdominal Pain (Stomach Pain), Short-Term

    MedlinePlus

    ... myhealthfinder Immunization Schedules Nutrient Shortfall Questionnaire Abdominal Pain (Stomach Pain), Short-termJust about everyone has had a " ... time or another. But sudden severe abdominal pain (stomach pain), also called acute pain, shouldn't be ...

  2. 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)

  3. 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

  4. 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.

  5. Short winters threaten temperate fish populations.

    PubMed

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

    2015-07-15

    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.

  6. 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.

  7. 18 CFR 415.1 - Short title.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... 18 Conservation of Power and Water Resources 2 2012-04-01 2012-04-01 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 known and may be cited as the “Flood...

  8. 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 known and may be cited as the “Flood...

  9. 18 CFR 415.1 - Short title.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... 18 Conservation of Power and Water Resources 2 2014-04-01 2014-04-01 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 known and may be cited as the “Flood...

  10. 18 CFR 415.1 - Short title.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... 18 Conservation of Power and Water Resources 2 2013-04-01 2012-04-01 true Short title. 415.1 Section 415.1 Conservation of Power and Water Resources DELAWARE RIVER BASIN COMMISSION ADMINISTRATIVE MANUAL BASIN REGULATIONS-FLOOD PLAIN REGULATIONS Generally § 415.1 Short title. This part shall be known and may be cited as the “Flood...

  11. 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 known and may be cited as the “Flood...

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

    PubMed Central

    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.

    2016-01-01

    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

  13. 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.

  14. Short Implants: New Horizon in Implant Dentistry.

    PubMed

    Jain, Neha; Gulati, Manisha; Garg, Meenu; Pathak, Chetan

    2016-09-01

    The choice of implant length is an essential factor in deciding the survival rates of these implants and the overall success of the prosthesis. Placing an implant in the posterior part of the maxilla and mandible has always been very critical due to poor bone quality and quantity. Long implants can be placed in association with complex surgical procedures such as sinus lift and bone augmentation. These techniques are associated with higher cost, increased treatment time and greater morbidity. Hence, there is need for a less invasive treatment option in areas of poor bone quantity and quality. Data related to survival rates of short implants, their design and prosthetic considerations has been compiled and structured in this manuscript with emphasis on the indications, advantages of short implants and critical biomechanical factors to be taken into consideration when choosing to place them. Studies have shown that comparable success rates can be achieved with short implants as those with long implants by decreasing the lateral forces to the prosthesis, eliminating cantilevers, increasing implant surface area and improving implant to abutment connection. Short implants can be considered as an effective treatment alternative in resorbed ridges. Short implants can be considered as a viable treatment option in atrophic ridge cases in order to avoid complex surgical procedures required to place long implants. With improvement in the implant surface geometry and surface texture, there is an increase in the bone implant contact area which provides a good primary stability during osseo-integration.

  15. Short Implants: New Horizon in Implant Dentistry

    PubMed Central

    Gulati, Manisha; Garg, Meenu; Pathak, Chetan

    2016-01-01

    The choice of implant length is an essential factor in deciding the survival rates of these implants and the overall success of the prosthesis. Placing an implant in the posterior part of the maxilla and mandible has always been very critical due to poor bone quality and quantity. Long implants can be placed in association with complex surgical procedures such as sinus lift and bone augmentation. These techniques are associated with higher cost, increased treatment time and greater morbidity. Hence, there is need for a less invasive treatment option in areas of poor bone quantity and quality. Data related to survival rates of short implants, their design and prosthetic considerations has been compiled and structured in this manuscript with emphasis on the indications, advantages of short implants and critical biomechanical factors to be taken into consideration when choosing to place them. Studies have shown that comparable success rates can be achieved with short implants as those with long implants by decreasing the lateral forces to the prosthesis, eliminating cantilevers, increasing implant surface area and improving implant to abutment connection. Short implants can be considered as an effective treatment alternative in resorbed ridges. Short implants can be considered as a viable treatment option in atrophic ridge cases in order to avoid complex surgical procedures required to place long implants. With improvement in the implant surface geometry and surface texture, there is an increase in the bone implant contact area which provides a good primary stability during osseo-integration. PMID:27790598

  16. Short-term memory across eye blinks.

    PubMed

    Irwin, David E

    2014-01-01

    The effect of eye blinks on short-term memory was examined in two experiments. On each trial, participants viewed an initial display of coloured, oriented lines, then after a retention interval they viewed a test display that was either identical or different by one feature. Participants kept their eyes open throughout the retention interval on some blocks of trials, whereas on others they made a single eye blink. Accuracy was measured as a function of the number of items in the display to determine the capacity of short-term memory on blink and no-blink trials. In separate blocks of trials participants were instructed to remember colour only, orientation only, or both colour and orientation. Eye blinks reduced short-term memory capacity by approximately 0.6-0.8 items for both feature and conjunction stimuli. A third, control, experiment showed that a button press during the retention interval had no effect on short-term memory capacity, indicating that the effect of an eye blink was not due to general motoric dual-task interference. Eye blinks might instead reduce short-term memory capacity by interfering with attention-based rehearsal processes.

  17. 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.

  18. 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.

  19. 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

    2014-04-01

    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.

  20. 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.

  1. Correlation dynamics after short-pulse photoassociation

    SciTech Connect

    Koch, Christiane P.; Kosloff, Ronnie

    2010-06-15

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

  2. 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.

  3. RF synchronized short pulse laser ion source

    SciTech Connect

    Fuwa, Yasuhiro Iwashita, Yoshihisa; Tongu, Hiromu; Inoue, Shunsuke; Hashida, Masaki; Sakabe, Shuji; Okamura, Masahiro; Yamazaki, Atsushi

    2016-02-15

    A laser ion source that produces shortly bunched ion beam is proposed. In this ion source, ions are extracted immediately after the generation of laser plasma by an ultra-short pulse laser before its diffusion. The ions can be injected into radio frequency (RF) accelerating bucket of a subsequent accelerator. As a proof-of-principle experiment of the ion source, a RF resonator is prepared and H{sub 2} gas was ionized by a short pulse laser in the RF electric field in the resonator. As a result, bunched ions with 1.2 mA peak current and 5 ns pulse length were observed at the exit of RF resonator by a probe.

  4. An integrable coupled short pulse equation

    NASA Astrophysics Data System (ADS)

    Feng, Bao-Feng

    2012-03-01

    An integrable coupled short pulse (CSP) equation is proposed for the propagation of ultra-short pulses in optical fibers. Based on two sets of bilinear equations to a two-dimensional Toda lattice linked by a Bäcklund transformation, and an appropriate hodograph transformation, the proposed CSP equation is derived. Meanwhile, its N-soliton solutions are given by the Casorati determinant in a parametric form. The properties of one- and two-soliton solutions are investigated in detail. Same as the short pulse equation, the two-soliton solution turns out to be a breather type if the wave numbers are complex conjugate. We also illustrate an example of soliton-breather interaction.

  5. 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.

  6. Heating Augmentation for Short Hypersonic Protuberances

    NASA Technical Reports Server (NTRS)

    Mazaheri, Alireza R.; Wood, William A.

    2008-01-01

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

  7. Heating Augmentation for Short Hypersonic Protuberances

    NASA Technical Reports Server (NTRS)

    Mazaheri, Ali R.; Wood, William A.

    2008-01-01

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

  8. 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).

  9. Women stereotypes in Shi Zhecun's short stories.

    PubMed

    Rosenmeier, Christopher

    2010-01-01

    This article analyses the representation of women in two 1933 short story collections by Shi Zhecun: An Evening of Spring Rain and Exemplary Conduct of Virtuous Women. It discusses how the New Woman image was a site of contestation in Republican China, and argues that Shi Zhecun’s short stories contain four basic stereotypes: the enigmatic woman, the estranged wife, the prostitute, and the inhibited woman. Using these narratives of women and how they were perceived by men, Shi Zhecun deconstructed the New Woman image by subverting the various ways modernity was projected onto women.

  10. Short backfire antenna for Doppler sensing

    NASA Astrophysics Data System (ADS)

    Martin, A. G.

    1981-10-01

    The design of a circular short backfire antenna fed from a standard X-band waveguide (WR 90/WG 16) for use at 10.5 GHz is described. Waveguide-fed short backfire antennas have the advantage of high gain per unit length. The designs discussed here have 2(lambda)-diameter circular apertures and a best gain figure of 14.5 dB with an overall length of the dielectric insert of 1.1(lambda). An aperture transforming principle for this antenna is discussed.

  11. 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

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

    ERIC Educational Resources Information Center

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

    2012-01-01

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

  13. T-expansion - a short review

    SciTech Connect

    Karliner, M.

    1985-09-01

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

  14. 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…

  15. Feminist Short Fiction: New Forms and Styles.

    ERIC Educational Resources Information Center

    Dean, Nancy

    This paper examines the stylistic changes that have occurred since 1850 in short fiction written by women. A shift is noted from the sentimental, romantic, "pretty" writing of the past to today's more realistic writing, with its characteristically vivid imagery. Discussion defines the term "feminist fiction" and shows how today's women writers are…

  16. 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)

  17. 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)

  18. 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 ASSETS CONTROL, DEPARTMENT OF THE TREASURY REGULATIONS PROHIBITING TRANSACTIONS INVOLVING THE SHIPMENT OF CERTAIN MERCHANDISE BETWEEN FOREIGN...

  19. 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…

  20. 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…

  1. 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)

  2. 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.

  3. Asian Short Fiction. Asian Studies Instructional Module.

    ERIC Educational Resources Information Center

    Waugh, Susan

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

  4. 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.

  5. 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…

  6. 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.

  7. 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…

  8. 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…

  9. Obesity and short sleep: unlikely bedfellows?

    PubMed

    Horne, J

    2011-05-01

    The link between habitual short sleep and obesity is critically examined from a sleep perspective. Sleep estimates are confounded by 'time in bed', naps; the normal distribution of sleep duration. Wide categorizations of 'short sleep', with claims that <7 h sleep is associated with obesity and morbidity, stem from generalizations from 5 h sleepers (<8% of adults) and acute restriction studies involving unendurable sleepiness. Statistically significant epidemiological findings are of questionable clinical concern, even for 5 h sleepers, as any weight gains accumulate slowly over years; easily redressed by e.g. short exercise exposures, contrasting with huge accumulations of 'lost' sleep. Little evidence supports 'more sleep', alone, as an effective treatment for obesity. Impaired sleep quality and quantity are surrogates for many physical and psychological disorders, as can be obesity. Advocating more sleep, in these respects, could invoke unwarranted use of sleep aids including hypnotics. Inadequate sleep in obese children is usually symptomatic of problems not overcome by increasing sleep alone. Interestingly, neuropeptides regulating interactions between sleep, locomotion and energy balance in normal weight individuals, are an avenue for investigation in some obese short sleepers. The real danger of inadequate sleep lies with excessive daytime sleepiness, not obesity.

  10. Short-pulse laser materials processing

    SciTech Connect

    Stuart, B.C.; Perry, M.D.; Myers, B.R.; Banks, P.S.; Honea, E.C.

    1997-06-18

    While there is much that we have learned about materials processing in the ultrashort-pulse regime, there is an enormous amount that we don`t know. How short does the pulse have to be to achieve a particular cut (depth, material, quality)? How deep can you cut? What is the surface roughness? These questions are clearly dependent upon the properties of the material of interest along with the short-pulse interaction physics. From a technology standpoint, we are asked: Can you build a 100 W average power system ? A 1000 W average power system? This proposal seeks to address these questions with a combined experimental and theoretical program of study. Specifically, To develop an empirical database for both metals and dielectrics which can be used to determine the pulse duration and wavelength necessary to achieve a specific machining requirement. To investigate Yb:YAG as a potential laser material for high average power short-pulse systems both directly and in combination with titanium doped sapphire. To develop a conceptual design for a lOOW and eventually 5OOW average power short-pulse system.

  11. Scaffolding Adolescents' Comprehension of Short Stories.

    ERIC Educational Resources Information Center

    Fournier, David N. E.; Graves, Michael F.

    2002-01-01

    Describes an approach to assisting seventh-grade students' comprehension of individual texts with a Scaffolded Reading Experience (SRE). Includes an outline of the scaffolded reading experience. Describes a classroom study of the effect of using SREs. Finds SREs can increase students' comprehension of short stories. (SG)

  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. 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.

  14. 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.

  15. 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.

  16. ACS Internal CTE Monitor and Short Darks

    NASA Astrophysics Data System (ADS)

    Lian Lim, Pey

    2011-10-01

    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 are newly added in Cycle 19 to study CTE tails in different subarray readout modes.

  17. HETEROGENEITY IN SHORT GAMMA-RAY BURSTS

    SciTech Connect

    Norris, Jay P.; Gehrels, Neil

    2011-07-01

    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 is comprised of 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/X-Ray Telescope (XRT). The median flux of the initial XRT detections for EE bursts ({approx}6x10{sup -10} erg cm{sup -2} s{sup -1}) is {approx}>20x brighter than for non-EE bursts, and the median X-ray afterglow duration for EE bursts ({approx}60,000 s) is {approx}30x 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 denser environments than non-EE bursts, or that the sometimes-dominant EE component efficiently powers the afterglow. Combined, these results favor different progenitors for EE and non-EE short bursts.

  18. 19 CFR 207.27 - Short life cycle products.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

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

  19. 19 CFR 207.27 - Short life cycle products.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 19 Customs Duties 3 2011-04-01 2011-04-01 false Short life cycle products. 207.27 Section 207.27... SUBSIDIZED EXPORTS TO THE UNITED STATES Final Determinations, Short Life Cycle Products § 207.27 Short life... short life cycle merchandise which has been the subject of two or more affirmative...

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

    SciTech Connect

    Juhao Wu; Alex Chao; Jean Delayen

    2007-06-18

    For accelerator designs with ultra short electron beams, beam dynamics study has to invoke the short-range wakefields. In this paper, we first obtain the short-range dipole mode resistive wall wakefield. Analytical approach is then developed to study the single bunch transverse beam dynamics due to this short-range resistive wall wake. The results are applied to the LCLS undulator.

  1. Transverse Effect Due to Short Range Resistive Wall Wakefield

    SciTech Connect

    Delayen, J.R.; Chao, Alexander Wu; Wu, J.; /SLAC

    2008-01-08

    For accelerator designs with ultra short electron beams, beam dynamics study has to invoke the short-range wakefields. In this paper, we first obtain the short-range dipole mode resistive wall wakefield. Analytical approach is then developed to study the single bunch transverse beam dynamics due to this short-range resistive wall wake. The results are applied to the LCLS undulator.

  2. 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.

  3. Short-time diffusivity of dicolloids

    NASA Astrophysics Data System (ADS)

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

    2014-06-01

    The short-time diffusivity of dicolloid particles as a function of particle volume fraction 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), 10.1098/rspa.2007.1872].

  4. Demographics of the Short Period Comets

    NASA Astrophysics Data System (ADS)

    Grav, Tommy; Spahr, T.; Pan-STARRS Moving Object Processing Team

    2008-09-01

    The demographics of the short period comets is not very well understood. In order to create an accurate synthetic population of object to be used in the testing and prediction of the efficiency of the upcoming Pan-STARRS project, we have used two years of minor planet observations reported by the LINEAR survey to construct a model of the underlying cometary population. We find that the known population of Jupiter family comets are the visible portion of two populations, one with aphelia at Jupiter and another with aphelia at Saturn. Furthermore the population of small short period comets is found to be larger than previously thought. In this talk we present the synthetic model and its implication and prospects for science with Pan-STARRS and LSST.

  5. Textbook Error: Short Circuiting an Electrochemical Cell

    NASA Astrophysics Data System (ADS)

    Bonicamp, Judith M.; Clark, Roy W.

    2007-04-01

    Sometimes errors in electrochemistry discussions are not in the text but in the figures. Many errors in the electrochemical chapters of general chemistry textbooks have been reported previously, yet we found a serious error in the diagrams in eight, 21st century texts. The figures in them show many of the cells shorted out with a wire. Since a shorted electrochemical cell produces no measurable voltage it is unreasonable to ask students to calculate the voltage produced by such a cell. Depending upon the pedagogical context, these diagrams are either seriously wrong or reflect a poor choice of a load for the cell. We offer suggestions as to what loads might be appropriately shown in textbook diagrams within different electrochemical contexts. We also offer an analogy to electrical potential energy and include a diagram to clarify the interrelationships between electromotive force E , reaction quotient Q , and Gibbs free energy G (an EQG diagram).

  6. Quantum chaotic resonances from short periodic orbits.

    PubMed

    Novaes, M; Pedrosa, J M; Wisniacki, D; Carlo, G G; Keating, J P

    2009-09-01

    We present an approach to calculating the quantum resonances and resonance wave functions of chaotic scattering systems, based on the construction of states localized on classical periodic orbits and adapted to the dynamics. Typically only a few such states are necessary for constructing a resonance. Using only short orbits (with periods up to the Ehrenfest time), we obtain approximations to the longest-living states, avoiding computation of the background of short living states. This makes our approach considerably more efficient than previous ones. The number of long-lived states produced within our formulation is in agreement with the fractal Weyl law conjectured recently in this setting. We confirm the accuracy of the approximations using the open quantum baker map as an example.

  7. Transient nanobubbles in short-time electrolysis.

    PubMed

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

    2013-05-08

    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.

  8. 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.

  9. Lipid nanoparticles for short interfering RNA delivery.

    PubMed

    Leung, Alex K K; Tam, Yuen Yi C; Cullis, Pieter R

    2014-01-01

    The discovery of RNA interference (RNAi) in mammalian cells has created a new class of therapeutics based on the reversible silencing of specific disease-causing genes. This therapeutic potential depends on the ability to deliver inducers of RNAi, such as short-interfering RNA (siRNA) and micro-RNA (miRNA), to cells of target tissues. This chapter reviews various challenges and delivery strategies for siRNA, with a particular focus on the development of lipid nanoparticle (LNP) delivery technologies. Currently, LNP delivery systems are the most advanced technology for systemic delivery of siRNA, with numerous formulations under various stages of clinical trials. We also discuss methods to improve gene silencing potency of LNP-siRNA, as well as application of LNP technologies beyond siRNA to the encapsulation of other nucleic acids such as mRNA and clustered regularly interspaced short palindromic repeats (CRISPR).

  10. A short-form measure of loneliness.

    PubMed

    Hays, R D; DiMatteo, M R

    1987-01-01

    The revised UCLA Loneliness Scale (ULS-20) and a four-item short form (ULS-4) are widely used in personality research (Russell, Peplau, & Cutrona, 1980). In an exploratory factor analysis of the ULS-20, we identified eight items that loaded substantially on the first factor. These items were combined to form an alternative short-form measure, the ULS-8. The results of this study indicate that the ULS-8 is reliable, valid, and a better substitute for the ULS-20 than is the ULS-4. Consistent with the previous research, the loneliness measures (ULS-20, ULS-8, ULS-4) were strongly related to socially undesirable personality characteristics, but loneliness was uncorrelated with the six different health-related behaviors (exercise, meal regularity, alcohol use, hard drug use, smoking, and hours of sleep) assessed in this study.

  11. 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.

  12. 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.

  13. 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.

  14. The economics of short-term leasing.

    PubMed

    Flath, D

    1980-04-01

    Short-term leasing is an everyday occurrence. Tax savings cannot account for the ubiquity of leasing by temporary users. Monopoly explanations are inconsistent with concurrent leasing and selling markets for perfect substitutes. Leasing economizes upon the costs of detecting, assuring, and maintaining quality, costs of search, and costs of risk-bearing. This view is based on standard economic reasoning and has numerous specific implications.

  15. Coherence properties of short cavity swept lasers

    PubMed Central

    Johnson, Bart; Atia, Walid; Kuznetsov, Mark; Goldberg, Brian D.; Whitney, Peter; Flanders, Dale C.

    2017-01-01

    It has been shown theoretically and experimentally that short cavity swept lasers are passively mode locked. We develop a mathematical model of these lasers and the light field solutions are used to predict the coherence length and coherence revival behavior. The calculations compare favorably with data from a 990–1100 nm laser swept at 100 kHz suitable for optical coherence tomography applications. PMID:28271002

  16. Localization of Short Duration Periodic Signals

    DTIC Science & Technology

    2013-09-30

    the localization of multiple interfering sperm whales using multi- sensor time difference of arrival”, 130 Journal of the Acoustical Society of...often make short duration periodic signals such as clicks. It is common to locate whales by measuring the time difference for the same click...can occur when the sources are whales in a pod. In this case, a set of hyperbolic solutions will be created for each source and many false

  17. Method analyzes pressure for short flow times

    SciTech Connect

    Soliman, M. ); Petak, K. )

    1990-04-30

    Pressure build-up after short producing times and pressure surges can be analyzed. The method employs the derivative plot and does not require prior knowledge of initial reservoir pressure that may be calculated using a Cartesian plot. Field use of the new technique has proven its superiority to previously used methods, and has shown the necessity of using highly accurate data to achieve desired results.

  18. 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.

  19. Pulse shaper assisted short laser pulse characterization

    NASA Astrophysics Data System (ADS)

    Galler, A.; Feurer, T.

    2008-03-01

    We demonstrate that a pulse shaper is able to simultaneously act as an optical waveform generator and a short pulse characterization device when combined with an appropriate nonlinear element. We present autocorrelation measurements and their frequency resolved counterparts. We show that control over the carrier envelope phase allows continuous tuning between an intensity-like and an interferometric autocorrelation. By changing the transfer function other measurement techniques, for example STRUT, are easily realized without any modification of the optical setup.

  20. 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.

  1. OMV--Short Range Vehicle Concept

    NASA Technical Reports Server (NTRS)

    1986-01-01

    In this 1986 artist's concept, the Orbital Maneuvering Vehicle (OMV), is shown without its main propulsion module. Essentially two propulsion vehicles in one, the OMV could be powered by a main propulsion module , or, in its short range vehicle configuration shown here, use its own hydrazine and cold gas thrusters. As envisioned by Marshall Space Flight Center plarners, the OMV would be a remotely-controlled free-flying space tug which would place, rendezvous, dock, and retrieve orbital payloads.

  2. Short wavelength striations on expanding plasma clouds

    SciTech Connect

    Winske, D.; Gary, S.P.

    1989-01-01

    The growth and evolution of short wavelength (

  3. Current management of the short bowel syndrome.

    PubMed

    Thompson, Jon S; Weseman, Rebecca; Rochling, Fedja A; Mercer, David F

    2011-06-01

    Short bowel syndrome is a challenging clinical problem that benefits from a multidisciplinary approach. Much progress has recently been made in all aspects of management. Medical intestinal rehabilitation should be the initial treatment focus, and several new potential pharmacologic agents are being investigated. Surgical rehabilitation using nontransplant procedures in selected patients may further improve intestinal function. Intestinal lengthening procedures are particularly promising. Intestinal transplantation has increasingly been used with improving success in patients with life-threatening complications of intestinal failure.

  4. 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.

  5. Unlocking Short Read Sequencing for Metagenomics

    SciTech Connect

    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.

  6. SPA: Short peptide analyzer of intrinsic disorder status of short peptides

    PubMed Central

    Xue, Bin; Hsu, Wei-Lun; Lee, Jun-Ho; Lu, Hua; Dunker, A. Keith; Uversky, Vladimir N.

    2010-01-01

    Disorder prediction for short peptides is important and difficult. All modern predictors have to be optimized on a preselected dataset prior to prediction. In the succeeding prediction process, the predictor works on a query sequence or its short segment. For implementing the prediction smoothly and obtaining sound prediction results, a specific length of the sequence or segment is usually required. The need of the preselected dataset in the optimization process and the length limitation in the prediction process restrict predictors’ performance. To minimize the influence of these limitations, we developed a method for the prediction of intrinsic disorder in short peptides based on large dataset sampling and statistics. As evident from the data analysis, this method provides more reliable prediction of the intrinsic disorder status of short peptides. PMID:20497238

  7. Accurate taxonomic assignment of short pyrosequencing reads.

    PubMed

    Clemente, José C; Jansson, Jesper; Valiente, Gabriel

    2010-01-01

    Ambiguities in the taxonomy dependent assignment of pyrosequencing reads are usually resolved by mapping each read to the lowest common ancestor in a reference taxonomy of all those sequences that match the read. This conservative approach has the drawback of mapping a read to a possibly large clade that may also contain many sequences not matching the read. A more accurate taxonomic assignment of short reads can be made by mapping each read to the node in the reference taxonomy that provides the best precision and recall. We show that given a suffix array for the sequences in the reference taxonomy, a short read can be mapped to the node of the reference taxonomy with the best combined value of precision and recall in time linear in the size of the taxonomy subtree rooted at the lowest common ancestor of the matching sequences. An accurate taxonomic assignment of short reads can thus be made with about the same efficiency as when mapping each read to the lowest common ancestor of all matching sequences in a reference taxonomy. We demonstrate the effectiveness of our approach on several metagenomic datasets of marine and gut microbiota.

  8. Management of patients with a short bowel.

    PubMed

    Nightingale, J M

    2001-12-01

    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 B(12). 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.

  9. Narrow resonances and short-range interactions

    NASA Astrophysics Data System (ADS)

    Gelman, Boris A.

    2009-09-01

    Narrow resonances in systems with short-range interactions are discussed in an effective field theory (EFT) framework. An effective Lagrangian is formulated in the form of a combined expansion in powers of a momentum Q≪Λ—a short-distance scale—and an energy difference δɛ=|E-ɛ0|≪ɛ0—a resonance peak energy. At leading order in the combined expansion, a two-body scattering amplitude is the sum of a smooth background term of order Q0 and a Breit-Wigner term of order Q2(δɛ)-1 which becomes dominant for δɛ≲Q3. Such an EFT is applicable to systems in which short-distance dynamics generates a low-lying quasistationary state. The EFT is generalized to describe a narrow low-lying resonance in a system of charged particles. It is shown that in the case of Coulomb repulsion, a two-body scattering amplitude at leading order in a combined expansion is the sum of a Coulomb-modified background term and a Breit-Wigner amplitude with parameters renormalized by Coulomb interactions.

  10. The Long and the Short of It

    NASA Technical Reports Server (NTRS)

    2006-01-01

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

  11. Narrow resonances and short-range interactions

    SciTech Connect

    Gelman, Boris A.

    2009-09-15

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

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

    NASA Technical Reports Server (NTRS)

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

    1973-01-01

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

  13. ACS Internal CTE Monitor and Short Darks

    NASA Astrophysics Data System (ADS)

    Lian Lim, Pey

    2010-09-01

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

  14. 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.

  15. [Short history of L-Dopa].

    PubMed

    García Ruiz, P J; Meseguer, E

    2002-04-01

    The introduction of L-Dopa has been a landmark in Neuroscience. Before the use of L-Dopa, Parkinson's disease (PD) was considered a disabling disease with no effective treatment. The development of L-Dopa followed a rationale approach: first, the discovery of dopamine deficiency in the striatum of patients with PD; and then the use of precursor of dopamine. Overall, the whole process took less than 12 years; this is a remarkable short time taking into account that the development of a similar crucial drug such as insulin took 50 years. In addition, the success of L-Dopa stimulated the neurochemistry research for all neurodegenerative diseases.

  16. 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.

  17. 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.

  18. 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.

  19. 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

  20. Anticipatory systems a short philosophical note

    NASA Astrophysics Data System (ADS)

    Van de Vijver, Gertrudis

    1998-07-01

    My aim is to explore some aspects of anticipation from a philosophical point of view. I start from the way in which anticipation has been traditionally related to the relation between particular and universal, and situate from there the view of Robert Rosen, that is more adequately characterized in terms of local/global than in terms of particular/universal. A short comment on Rosen will lead me to suggest some possible lines of research with regard to a more dynamical approach of anticipatory systems.

  1. 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.

  2. 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.

  3. Management of short bowel syndrome in infancy.

    PubMed

    Batra, A; Beattie, R M

    2013-11-01

    Short bowel syndrome (SBS) is a reduction in functioning bowel length which is most often a result of surgical resection. Risk factors in the neonatal period include necrotising enterocolitis, small bowel atresia and gastroschisis. With increasing survival of preterm infants there is an increase in incidence. Management is dependent on the use of parenteral nutrition to maintain fluid and electrolyte homeostasis and promote growth and development with the longer term aim being to promote intestinal adaptation to achieve partial or complete enteral autonomy. In this review we discuss the incidence, aetiology, pathophysiology, medical and surgical treatments and outcome.

  4. Short bowel syndrome: epidemiology and etiology.

    PubMed

    Wales, Paul W; Christison-Lagay, Emily R

    2010-02-01

    Pediatric short bowel syndrome (SBS) is most commonly caused by congenital or acquired conditions of the newborn. SBS is associated with an inability of the bowel to adequately absorb water and nutrients in sufficient quantities to meet caloric, fluid, and electrolyte demands, thus necessitating dependence on parenteral nutrition (PN). It is this dependence on PN, that is responsible for the majority of morbidity and mortality associated with SBS, including central venous catheter infections and PN-induced cholestatic liver dysfunction. There are very few estimates of SBS incidence and mortality in the literature. The epidemiology of SBS is reviewed and the limitations of the published literature are discussed.

  5. Short rise time intense electron beam generator

    DOEpatents

    Olson, Craig L.

    1987-01-01

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

  6. Short rise time intense electron beam generator

    DOEpatents

    Olson, C.L.

    1984-03-16

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

  7. 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

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

    PubMed Central

    2009-01-01

    Objective To compare the Short Musculoskeletal Function Assessment Dysfunction Index and the Short Form-36 Physical Component Summary scores among patients undergoing operative management of tibial fractures. Study Design and Setting Between July 2000 and September 2005, we enrolled 1319 skeletally mature patients with open or closed fractures of the tibial shaft that were managed with intramedullary nailing. Patients were asked to complete the Short Musculoskeletal Function Assessment and Short Form-36 at discharge and 3, 6, and 12 months post surgical fixation. Results Short Musculoskeletal Function Assessment Dysfunction Index and Short Form-36 Physical Component Summary scores were highly correlated at 3, 6, and 12 months post surgical fixation. The difference in mean standardized change scores for the Short Musculoskeletal Function Assessment Dysfunction Index and the Short Form-36 Physical Component Summary, from 3 to 12 months post-surgical fixation, was not statistically significant. Both the Short Musculoskeletal Function Assessment Dysfunction Index and Short Form-36 Physical Component Summary scores were able to discriminate between healed and non-healed tibial fractures at 3, 6, and 12 months post surgery. Conclusion In patients with tibial shaft fractures, the Short Musculoskeletal Function Assessment Dysfunction Index offered no important advantages over the Short Form-36 Physical Component Summary score. These results, along with the usefulness of the Short Form-36 for comparing populations, recommends the Short Form-36 for assessing physical function in studies of patients with tibial fractures. PMID:19364637

  9. Parameters important in short antibiotic courses.

    PubMed

    Pechère, J C

    2000-01-01

    The aim of antibiotic therapy is pathogen eradication, which is often assumed on the basis of the alleviation of the signs and symptoms of the disease. Pharmacokinetic/pharmacodynamic in vitro and animal models have now been developed to predict bacteriological efficacy and to establish dosing regimens that are effective and control the development of resistance. These models may be applied to the evaluation of new short-course dosing regimens, lasting no longer than 3 - 5 days. Single-dose therapy, using agents with a prolonged duration of action, is currently employed for streptococcal pharyngitis, uncomplicated gonorrhoea and uncomplicated lower urinary tract infections in women. The use of short-course therapy in immunocompetent patients for the treatment of community-acquired infections that have a low bacterial load is feasible. Such regimens may have a number of advantages over those currently employed, which typically involve dosing for 7 - 10 days. These advantages include improved tolerability, reduction in healthcare costs, enhanced patient compliance and the prevention of the emergence of resistance.

  10. Short hyperdynamic profiles influence primate temperature regulation

    NASA Technical Reports Server (NTRS)

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

    1982-01-01

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

  11. 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.

  12. Short-term energy outlook, July 1998

    SciTech Connect

    1998-07-01

    The Energy Information Administration (EIA) prepares The Short-Term Energy Outlook (energy supply, demand, and price projections) monthly for distribution on the internet at: www.eia.doe.gov/emeu/steo/pub/contents.html. In addition, printed versions of the report are available to subscribers in January, April, July and October. The forecast period for this issue of the Outlook extends from July 1998 through December 1999. Values for second quarter of 1998 data, however, are preliminary EIA estimates (for example, some monthly values for petroleum supply and disposition are derived in part from weekly data reported in EIA`s Weekly Petroleum Status Report) or are calculated from model simulations that use the latest exogenous information available (for example, electricity sales and generation are simulated by using actual weather data). The historical energy data, compiled in the July 1998 version of the Short-Term Integrated Forecasting System (STIFS) database, are mostly EIA data regularly published in the Monthly Energy Review, Petroleum Supply Monthly, and other EIA publications. Minor discrepancies between the data in these publications and the historical data in this Outlook are due to independent rounding. 28 figs., 19 tabs.

  13. Capillary condensation of short-chain molecules.

    PubMed

    Bryk, Paweł; Pizio, Orest; Sokolowski, Stefan

    2005-05-15

    A density-functional study of capillary condensation of fluids of short-chain molecules confined to slitlike pores is presented. The molecules are modeled as freely jointed tangent spherical segments with a hard core and with short-range attractive interaction between all the segments. We investigate how the critical parameters of capillary condensation of the fluid change when the pore width decreases and eventually becomes smaller than the nominal linear dimension of the single-chain molecule. We find that the dependence of critical parameters for a fluid of dimers and of tetramers on pore width is similar to that of the monomer fluid. On the other hand, for a fluid of chains consisting of a larger number of segments we observe an inversion effect. Namely, the critical temperature of capillary condensation decreases with increasing pore width for a certain interval of values of the pore width. This anomalous behavior is also influenced by the interaction between molecules and pore walls. We attribute this behavior to the effect of conformational changes of molecules upon confinement.

  14. Hurst exponents for short time series

    NASA Astrophysics Data System (ADS)

    Qi, Jingchao; Yang, Huijie

    2011-12-01

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

  15. Aspects of short-range interconnect packaging

    NASA Astrophysics Data System (ADS)

    Wohlfeld, Denis; Brenner, Karl-Heinz

    2012-01-01

    In short-range interconnect applications, one question arises frequently: When should optical solutions be chosen over electrical wiring? The answer to this question of course depends on several factors like costs, performance, reliability, availability of testing equipment and knowledge about optical technologies, and last but not least, it strongly depends on the application itself. Networking in high performance computing (HPC) is one such example. With bit rates around 10 Gbit/s per channel and cable length above 2 m, the high attenuation of electrical cables leads to a clear preference of optical or active optical cables (AOC) for most planned HPC systems. For AOCs, the electro-optical conversion is realized inside the connector housing, while for purely optical cables, the conversion is done at the edge of the board. Proceeding to 25 Gbit/s and higher, attenuation and loss of signal quality become critical. Therefore, either significantly more effort has to be spent on the electrical side, or the package for conversion has to be integrated closer to the chip, thus requiring new packaging technologies. The paper provides a state of the art overview of packaging concepts for short range interconnects, it describes the main challenges of optical package integration and illustrates new concepts and trends in this research area.

  16. SHORT-WAVELENGTH MAGNETIC BUOYANCY INSTABILITY

    SciTech Connect

    Mizerski, K. A.; Davies, C. R.; Hughes, D. W. E-mail: tina@maths.leeds.ac.uk

    2013-04-01

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

  17. 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.

  18. Marathon Running May Cause Short-Term Kidney Injury

    MedlinePlus

    ... page: https://medlineplus.gov/news/fullstory_164324.html Marathon Running May Cause Short-Term Kidney Injury But ... of endurance are also tough on the kidneys. "Marathon runners demonstrate transient or reverse short-term kidney ...

  19. An analysis of short haul airline operating costs

    NASA Technical Reports Server (NTRS)

    Kanafani, A.; Taghavi, S.

    1975-01-01

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

  20. Generation of short and long range temporal correlated noise

    SciTech Connect

    Romero, A.H.; Sancho, J.M.

    1999-11-20

    The authors present the implementation of an algorithm to generate Gaussian random noises with prescribed time correlations that can be either long or short ranged. Examples of Langevin dynamics with short and long range noises are presented and discussed.

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

    NASA Technical Reports Server (NTRS)

    Anderson, Bobby L.

    1990-01-01

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

  2. 30 CFR 56.12065 - Short circuit and lightning protection.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

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

  3. 30 CFR 56.12065 - Short circuit and lightning protection.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

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

  4. 30 CFR 56.12065 - Short circuit and lightning protection.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

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

  5. 30 CFR 57.12065 - Short circuit and lightning protection.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

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

  6. 30 CFR 57.12065 - Short circuit and lightning protection.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

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

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

    Code of Federal Regulations, 2014 CFR

    2014-07-01

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

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

    Code of Federal Regulations, 2012 CFR

    2012-07-01

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

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

    Code of Federal Regulations, 2013 CFR

    2013-07-01

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

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

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... 47 Telecommunication 5 2013-10-01 2013-10-01 false Dedicated short range communications service... Regulations Governing the Licensing and Use of Frequencies in the 5850-5925 Mhz Band for Dedicated Short-Range Communications Service (dsrcs) § 90.371 Dedicated short range communications service. (a) These...

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

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... 47 Telecommunication 5 2014-10-01 2014-10-01 false Dedicated short range communications service... Regulations Governing the Licensing and Use of Frequencies in the 5850-5925 Mhz Band for Dedicated Short-Range Communications Service (dsrcs) § 90.371 Dedicated short range communications service. (a) These...

  12. 75 FR 24497 - Short-Term, Small Amount Loans

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-05-05

    ... ADMINISTRATION 12 CFR Part 701 RIN 3133-AD71 Short-Term, Small Amount Loans AGENCY: National Credit Union... federal credit unions (FCUs) to offer short-term, small amount loans (STS loans) as a viable alternative... regcomments@ncua.gov . Include ``[Your name] Comments on Notice of Proposed Rulemaking (Short-term,...

  13. 30 CFR 57.12065 - Short circuit and lightning protection.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

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

  14. 30 CFR 56.12065 - Short circuit and lightning protection.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

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

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

    SciTech Connect

    Not Available

    1994-02-07

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

  16. Precursors of Short GRBs Registered by SPI-ACS/INTEGRAL

    NASA Astrophysics Data System (ADS)

    Minaev, P.; Pozanenko, A.

    2016-10-01

    We have searched for precursors in light curves of short gamma-ray bursts registered by SPI-ACS/INTEGRAL in 2002-2014. The portion of short bursts with precursor activity will be less than 0.4% from all short bursts registered by SPI-ACS.

  17. In Search of Decay in Verbal Short-Term Memory

    ERIC Educational Resources Information Center

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

    2009-01-01

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

  18. Surface superconductivity of short coherence length superconductors

    NASA Astrophysics Data System (ADS)

    Watson Yang, T. J.; Chen, J. L.

    1994-12-01

    Based on the microscopic theory of Valls et al for short coherence length superconductors, the surface critical temperature Tcs is assumed to be higher than the bulk critical temperature Tcb and the term of surface energy is added in the Ginzburg-Landau (GL) free energy. A boundary condition is obtained and used to solve the GL equation exactly under zero magnetic field for various temperatures. Two examples are given. The critical temperature Tc will be enhanced by reducing the thickness of a superconducting thin film. The nucleation field Hc3(T) is proportional to Tcb-T near Tcb; and Hc3(T) is also proportional to (Tc-T)1/2 near Tc.>

  19. Surface superconductivity of short coherence length superconductors

    NASA Astrophysics Data System (ADS)

    Chen, J. L.; Yang, T. J.

    1994-09-01

    Based on the theory of Valls et al. for short coherence length superconductors, de Gennes' boundary theory for conventional superconductors with ξ 0≫ K-1F may be modified. We solve the G-L equation exactly under zero magnetic field for various temperatures. The order parameter Ψ( x) is not depleted but enhanced near the surface. We also obtain some interesting results: Tc will be enhanced by contracting of the thickness of a superconducting film. The nucleation field Hc3 ( T)∝( Tcb- T) near Tcb; and H c3(T)∝(T c-T) {1}/{2} near Tc. The critical current in SIS Josephson junctions Jc( T)∝( Tc- T)+√ 2 τ0( T0- T) for T< Tcb; and Jc( T)∝( Tc- T) for Tcb≤ T< Tc.

  20. Surface superconductivity of short coherence length superconductors

    NASA Astrophysics Data System (ADS)

    Yang, T. J. Watson; Chen, J. L.

    1994-12-01

    Based on the microscopic theory of Valls et al for short coherence length superconductors, the surface critical temperature Tcs is assumed to be higher than the bulk critical temperature Tcb and the term of surface energy is added in the Ginzburg-Landau (GL) free energy. A boundary condition is obtained and used to solve the GL equation excactly under zero magnetic field for various temperatures. Two examples are given. The critical temperature Tc will be enhanced by reducing the thickness of a superconductig thin film. The nucleation field Hcs( T) is proportional to Tcb- T near Tcb; and Hcs( T) is also proportional to (T c-T) {1}/{2} near Tc.