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1

Short stature  

MedlinePLUS

... age but are growing at a normal rate. Puberty is often late. These children continue to grow ... stature? At what age did the parents start puberty? Child's history What was the child's birth like? ...

2

Imaging in short stature  

PubMed Central

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

Chaudhary, Vikas; Bano, Shahina

2012-01-01

3

Genetic Analysis of Short Stature  

Microsoft Academic Search

Short stature is a major concern for patients and their parents, and represents a diagnostic challenge to the clinician. A correct diagnosis is of particular importance in view of the availability of effective, but costly, therapy in a small subset of cases. Many different genetic etiologies of short stature are known. Therefore, chromosome as well as molecular analysis are requisite

S. G. Kant; J. M. Wit; M. H. Breuning

2003-01-01

4

Psychosocial effects of short stature  

Microsoft Academic Search

The treatment of children with short stature was revolutionized by the creation of recombinant growth hormone therapy. While\\u000a it cannot be denied that therapy adds significant height to children who are growth hormone deficient, such treatment is both\\u000a painful, requiring many injections for years, as well as extremely expensive, both for the children's parents as well as for\\u000a medical health

David Zlotkin; Surendra K. Varma

2006-01-01

5

Short Stature in Childhood and Adolescence  

PubMed Central

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

Bannard, James R.; Schnell, Frank N.

1991-01-01

6

Growing up with short stature : Psychosocial consequences of hormone treatment  

Microsoft Academic Search

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

J. Visser-van Balen

2007-01-01

7

Yq deletion, aspermia, and short stature  

Microsoft Academic Search

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

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

1977-01-01

8

Short stature and an interesting association  

PubMed Central

Untreated hypothyroidism in children usually results in delayed puberty, but juvenile hypothyroidism causes isosexual precocious puberty in a rare syndrome called Van Wyk Grumbach syndrome, with a complete reversal to the pre pubertal state following thyroid hormone replacement therapy. We report here, a 7-year-old girl who presented with short stature, constipation and isosexual precocious puberty due to the long standing untreated severe hypothyroidism with this syndrome.

Sneha, Latha Magatha; Thanasegarapandian, Kishore; Paramasivam, Venkataraman; Scott, Julius Xavier

2013-01-01

9

Short stature homeobox-containing gene deletion screening by fluorescence in situ hybridisation in patients with short stature  

Microsoft Academic Search

The short stature homeobox-containing gene (SHOX) on the short arm of the X and Y chromosomes is an important determining factor of stature phenotype. Absence of the SHOX gene is a main cause for short stature in patients with Turner syndrome. Mutations of the SHOX gene can also be responsible for Léri-Weill syndrome (dyschondrosteosis). The aim of this study was

Jörg Müsebeck; Klaus Mohnike; Petra Beye; Holger Tönnies; Heidemarie Neitzel; Dirk Schnabel; Anette Grüters; Peter F. Wieacker; Markus Stumm

2001-01-01

10

Evaluation of short stature in children.  

PubMed

CME EDUCATIONAL OBJECTIVES 1. Distinguish normal growth from pathological short stature. 2. Identify key components in the history and physical exam in the evaluation of short stature. 3. Outline the diagnostic evaluation, indications for growth hormone therapy and indications for referral to a specialist. Normal growth in children is a reflection of general health and is the result of a complex interaction between genetic, nutritional, and hormonal factors. From conception through infancy, growth is mostly driven by maternal nutrition and the in utero environment. Genetic factors, growth and thyroid hormones, ghrelin, and sex steroids have a more prominent influence later. Normal growth is not linear; it is marked by periods of growth spurts, particularly during puberty, separated by periods of slow or immeasurable growth. There is often a period of growth deceleration observed before the onset of puberty, with maximal pubertal growth spurts occurring at Tanner stage III for girls and Tanner stage IV for boys. This is caused primarily by the combined effect of the increased amplitude of growth hormone pulses and sex steroids. Short stature (SS), which is the subject of this review, is defined as a length or height more than 2 standard deviations below the mean for age and gender, which corresponds to a percentile below 2.5%. Taking a thorough patient history and completing a comprehensive physical examination are some of the most important diagnostic tools for pediatricians to use in the diagnosis of SS, and in making appropriate referrals as needed. PMID:24168115

Ismail, Heba; Ness, Kathryn

2013-11-01

11

ACMG practice guideline: Genetic evaluation of short stature  

PubMed Central

Short stature is a common indication for genetic evaluation. The differential diagnosis is broad and includes both pathologic causes of short stature and nonpathologic causes. The purpose of genetic evaluation for short stature is to provide accurate diagnosis for medical management and to provide prognosis and recurrence risk counseling for the patient and family. There is no evidence-based data to guide the geneticist in an efficient, cost-effective approach to the evaluation of a patient with short stature. This guideline provides a rubric for the evaluation of short stature evaluation and summarizes common diagnoses and clinical testing available.

Seaver, Laurie H.; Irons, Mira

2009-01-01

12

A rare cause of short stature: Leri Weill dyschondrosteosis.  

PubMed

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. PMID:12872816

Cakir, M; Kalyoncu, M; Odemi?, E; Okten, A

2003-01-01

13

Psychological Criteria for Treating Children with Idiopathic Short Stature  

Microsoft Academic Search

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

Monika Bullinger

2011-01-01

14

[Growth hormone and idiopathic short stature].  

PubMed

Idiopathic short stature is defined by height below 3rd percentile, in a child with normal birth height and weight, lack of dysmorphy, endocrine deficiency or systemic disease. Food and Drugs administration approved GH treatment in this indication in the United States, because it induces height gain, and sometimes may increase quality of life. There is no consensus in terms of duration, monitoring parameters, benefits and risks of long term GH treatment in these patients. Cost effectiveness of such a treatment is under debate, and ethical considerations also have to be taken into account. Recombinant IGF1 should not be proposed in this indication at the moment, due to the lack of sufficient data on potential GH insensitivity in a subgroup of these patients. PMID:18954853

Castinetti, F; Fabre-Brue, C; Brue, T

2008-09-01

15

Deletions of the Homeobox Gene SHOX (Short Stature Homeobox) Are an Important Cause of Growth Failure in Children with Short Stature  

Microsoft Academic Search

Short stature, with an incidence of 3 in 100, is a fairly frequent disorder in children. Idiopathic short stature refers to pa- tients who are short due to various unknown reasons. Muta- tions of a human homeobox gene, SHOX (short stature ho- meobox), have recently been shown to be associated with the short stature phenotype in patients with Turner syndrome

GUDRUN A. RAPPOLD; MAKI FUKAMI; BEATE NIESLER; SIMONE SCHILLER; WALTER ZUMKELLER; MARKUS BETTENDORF; UDO HEINRICH; ELPIS VLACHOPAPADOUPOULOU; THOMAS REINEHR; KAZUMICHI ONIGATA; TSUTOMU OGATA

16

Delayed Puberty and Short Stature in an Adolescent  

Microsoft Academic Search

Delayed puberty associated with short stature can be due to a number of causes. A focused medical history, a directed physical examination and appropriate diagnostic tests are needed to diagnose the underlying cause. A case of an adolescent with delayed puberty and short stature is presented to highlight the diagnostic approach. The most common cause of delayed maturation in adolescents

Rahila Iftikhar; Jaweed Akhtar

17

High incidence of SHOX anomalies in individuals with short stature  

Microsoft Academic Search

Objective: To study the SHOX gene and the PAR1 region in individuals with short stature.Methods: The study involved 56 cases of dyschondrosteosis and 84 cases of idiopathic short stature (ISS). The study was designed to determine the following: the prevalence of SHOX anomalies in ISS; the frequency of Madelung deformity in individuals with SHOX anomalies; and the value of a

C Huber; M Rosilio; A Munnich; V Cormier-Daire

2006-01-01

18

[GH treatment in patients with idiopathic short stature].  

PubMed

Growth hormone has been used in the treatment of patients with idiopathic short stature. Clinical and laboratory criteria are discussed, taking into consideration the indication of GH and the evaluation of its efficacy and individual responsiveness. Anthropometric, psychosocial, ethical, and also cost/benefit aspects must be considered before GH prescription in idiopathic short stature patients. PMID:18797581

Longui, Carlos Alberto

2008-07-01

19

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

Microsoft Academic Search

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

Gerhard Binder

2011-01-01

20

[Clinical problem in managing adolescents with short stature].  

PubMed

Short stature in adolescence may cause some medical, psychological and social concerns, in addition to specific diagnostic and therapeutical problems. Among the various causes of short stature, the present review will examine in detail some forms such as constitutional delay of growth and puberty, growth hormone deficiency and Turner's syndrome, since these forms will benefit from an appropriate medical approach in adolescence. The diagnostic and therapeutical problems these forms may present in adolescence are also discussed. PMID:12388945

Bertelloni, S; Navari, S; Sodini, F; Basiloni, V; Bertacca, L; Saggese, G

2002-12-01

21

Idiopathic Short Stature: Reflections on Its Definition and Spontaneous Growth  

Microsoft Academic Search

Background: Despite clarification of the term idiopathic short stature (ISS) provided by an international consensus group, several points of discussion remain. Methods and Results: Various cut-off limits can be used for the definition of ‘short’, and in the absence of recent population-based references, decisions have to be taken about which reference to use, whether corrections for secular trend have to

J. M. Wit

2007-01-01

22

Chromosome abnormalities in Indonesian patients with short stature  

PubMed Central

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

2012-01-01

23

Should We Treat Children with Idiopathic Short Stature?  

Microsoft Academic Search

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

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

1999-01-01

24

A Noonan-like short stature syndrome with sparse hair  

Microsoft Academic Search

Noonan's syndrome is a clinically recognisable short stature syndrome with autosomal dominant inheritance. The diagnosis can be difficult as the phenotypic expression is very variable. There has been an attempt to divide this syndrome into type I (in which the facial features, especially ptosis, antimongoloid eye slant, and hypertelorism are prominent) and type II (where cardiological abnormalities are more to

M Baraitser; M A Patton

1986-01-01

25

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

Microsoft Academic Search

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

A R Rushton; M Genel

1981-01-01

26

Idiopathic short stature: Definition, epidemiology, and diagnostic evaluation  

Microsoft Academic Search

Idiopathic short stature is a condition in which the height of the individual is more than 2 SD below the corresponding mean height for a given age, sex and population, in whom no identifiable disorder is present. It can be subcategorized into familial and non-familial ISS, and according to pubertal delay. It should be differentiated from dysmorphic syndromes, skeletal dysplasias,

J. M. Wit; P. E. Clayton; A. D. Rogol; M. O. Savage; P. H. Saenger; P. Cohen

2008-01-01

27

Autosomal Dominant Hypoparathyroidism Associated with Short Stature and Premature Osteoarthritis  

Microsoft Academic Search

Familial hypoparathyroidism is an unusual and genetically het- erogeneous group of disorders that may be isolated or may be asso- ciated with congenital or acquired abnormalities in other organs or glands. We have evaluated a family with a novel syndrome of auto- somal dominant hypoparathyroidism, short stature, and premature osteoarthritis. A 74-yr-old female (generation I) presented with hypoparathyroid- ism, a

JOHN L. STOCK; ROSALIND S. BROWN; JEFFREY BARON; JAMES A. CODERRE; EDNA MANCILLA; FRANCESCO DE LUCA; KAUSIK RAY; MARIA VERONICA MERICQ

28

Methods and Reagents for Predicting the Likelihood of Developing Short Stature Caused by FRAXG.  

National Technical Information Service (NTIS)

The invention provides methods for identifying an infant or child predisposed to develop symptoms of short stature, or an adult capable of genetically transmitting a predisposition to develop short stature to an offspring. The methods comprise analysis of...

A. De la Chapelle R. Krahe S. Zhang

2004-01-01

29

Evidence for partial growth hormone insensitivity among patients with idiopathic short stature  

Microsoft Academic Search

Objective: To determine whether some patients with idiopathic short stature have partial resistance to growth hormone (GH). Patients with idiopathic short stature have decreased serum levels of the GH receptor-related GH-binding protein (GHBP), and low GHBP levels are associated with complete GH insensitivity (Laron) syndrome. We hypothesized that patients with idiopathic short stature and low GHBP levels may also have

Kenneth M. Attie; Lena M. S. Carlsson; Amy Chen Rundle; Barry M. Sherman

1995-01-01

30

Mutations in short stature homeobox containing gene ( SHOX ) in dyschondrosteosis but not in hypochondroplasia  

Microsoft Academic Search

Dyschondrosteosis (DCO) and hypochondroplasia (HCH) are common skeletal dysplasias characterized by disproportionate short stature. The diagnosis of these conditions might be difficult to establish especially in early childhood. Point mutations and deletions of the short stature homeobox containing gene (SHOX) are detected in DCO and idiopathic short stature with some rhizomelic body disproportion, whereas mutations in the fibroblast growth factor

Giedre Grigelioniene; Ole Eklöf; Sten Anders Ivarsson; Otto Westphal; Lo Neumeyer; Darek Kedra; Jan Dumanski; Lars Hagenäs

2000-01-01

31

Wildervanck syndrome associated with cleft palate and short stature  

PubMed Central

We report a case of Wildervanck syndrome exhibiting Klippel-Feil anomaly, Duane retraction syndrome and deafness. Since the first case was reported in 1952, there have been more reports describing this triad, either complete or incomplete. Our patient had the complete triad of the syndrome along with cleft palate and short stature. Also, a review of the literature regarding this syndrome is presented here.

Kumar, Anand; Sahu, Anupam; Shetty, Shashikant; P, Vijayalakshmi

2010-01-01

32

Short stature and growth hormone use in pediatric hemodialysis patients  

Microsoft Academic Search

End-stage renal disease (ESRD) causes growth retardation in children, and poor growth has been linked to worse outcomes. Recombinant human growth hormone (rhGH) can increase growth velocity and final adult height in pediatric ESRD patients. We aimed to identify clinical predictors of short stature (height standard deviation score (Ht SDS) p p\\u000a p \\u000ap \\u000ap p 2 (OR 3.1; 95%

Gregory Gorman; Barbara Fivush; Diane Frankenfield; Bradley Warady; Sandra Watkins; Andrew Brem; Alicia Neu

2005-01-01

33

High incidence of SHOX anomalies in individuals with short stature  

PubMed Central

Objective To study the SHOX gene and the PAR1 region in individuals with short stature. Methods The study involved 56 cases of dyschondrosteosis and 84 cases of idiopathic short stature (ISS). The study was designed to determine the following: the prevalence of SHOX anomalies in ISS; the frequency of Madelung deformity in individuals with SHOX anomalies; and the value of a family history of short stature in deciding whether to test for the SHOX gene. Results 54 SHOX anomalies were observed, including 42 (68%) in the dyschondrosteosis group and 12 (15%) in the ISS group. The high frequency of SHOX anomalies in the ISS group can be explained by the large proportion of boys in this group, reflecting the difficulty in diagnosing dyschondrosteosis in young boys. Clinical evidence of Madelung deformity in six parents of ISS individuals emphasised the importance of family evaluation. Among the 54 SHOX anomalies, 33 PAR1 deletions were identified encompassing the SHOX gene (62%), one partial intragenic deletion (2%), nine deletions located downstream of the SHOX gene (16%), and 11 point mutations (20%). Conclusions These data emphasise the value of using microsatellite markers located within and downstream of the SHOX gene.

Huber, C; Rosilio, M; Munnich, A; Cormier-Daire, V

2006-01-01

34

Short stature caused by isolated SHOX gene haploinsufficiency: update on the diagnosis and treatment.  

PubMed

Heterozygous SHOX defects are observed in about 50 to 90% of patients with Leri-Weill dyschondrosteosis (LWD), a common dominant inherited skeletal dysplasia; and in 2 to 15% of children with idiopathic short stature (ISS), indicating that SHOX defects are the most important monogenetic cause of short stature. In addition, children selected by disproportionate idiopathic short stature had a higher frequency of SHOX mutations (22%). A careful clinical evaluation of family members with short stature is recommended since it usually revealed LWD patients in families first classified as having ISS or familial short stature. SHOX-molecular analysis is indicated in families with LWD and ISS children with disproportionate short stature. Treatment with recombinant human growth hormone is considered an accepted approach to treat short stature associated with isolated SHOX defect. Here we review clinical, molecular and therapeutic aspects of SHOX haploinsufficiency. PMID:21150837

Jorge, Alexander A L; Funari, Mariana Fa; Nishi, Mirian Y; Mendonca, Berenice B

2010-12-01

35

A PROSPECTIVE STUDY OF ETIOLOGY OF SHORT STATURE IN 426 SHORT CHILDREN AND ADOLESCENTS  

Microsoft Academic Search

BACKGROUND—Short stature is defined as subnormal height relative to other children of the same sex and age, taking family into consideration. This prospective study was designed in order to determine the etiologies of short stature with especial concern on the prevalence of growth hormone deficiency, and to compare the results with world-wide studies. MATERIALS AND METHODS—We studied 426 subjects (272

Heshmat Moayeri; Yahya Aghighi

36

Differences in Dietary Intakes between Normal and Short Stature Korean Children Visiting a Growth Clinic  

PubMed Central

This study compared birth stature, parents' stature, and food and nutrient intakes between normal and short stature Korean children visiting a growth clinic. A total of 143 growth clinic visitors agreed to participate in the study. Out of the 143 subjects, 37 children with height below the fifth percentile (short stature group) and 58 children with height above the twenty-fifth percentile (normal group) were included in the study analysis. Data were collected through a survey of parents or guardians of children and anthropometric measurements. The ratio of short stature in either parent was significantly higher in short stature group. The mean intakes of protein, fat, calcium, and iron were lower in short stature children compared to normal children. Among five major food groups, the intake frequency of vegetables and fruits was significantly lower in short stature group and that of meat·fish·egg·legume group was also significantly lower in short stature group. In further analysis categorized into 11 detail food groups, the intake frequency of fruit group and legume group was significantly lower in short stature group. Nutritional counseling should be provided to emphasize adequate intake of various food groups including vegetables, fruits, and legumes to short stature children visiting a growth clinic.

Lee, Eun Mi; Park, Mi Jung; Ahn, Hong Seok

2012-01-01

37

Short stature due to SHOX deficiency: genotype, phenotype, and therapy.  

PubMed

SHOX deficiency is a frequent cause of short stature. The short stature homeobox-containing gene resides in the telomeric PAR1 region on the short arm of both sex chromosomes and escapes X inactivation. For this review, abstracts of 207 publications presented by PubMed for the search term 'SHOX' were screened. Heterozygote SHOX mutations (80% deletions) were detected in 2-15% of individuals with formerly idiopathic short stature, in 50-90% of individuals with Leri-Weill dyschondrosteosis, and in almost 100% of girls with Turner syndrome. Mutational analysis is primarily performed by MLPA analysis followed by gene sequencing if necessary. SHOX is a nuclear protein that binds to DNA and acts as a transcriptional activator. Orthologs are present in many vertebrates but not in rodents. Gene expression starting as early as 33 days postconception in humans is predominant in the mid portion of the buds and in the first and second pharyngeal arches. In the growth plate, hypertrophic chondrocytes express SHOX where it seems to have antiproliferative potency. The penetrance of SHOX deficiency is high, but its clinical expression is very variable becoming more pronounced with age and being more severe in females. Growth failure starts early during the first years of life and the height deficit present at preschool age seems not to deteriorate further. The mean adult height is -2.2 SDS. Auxological analysis of the body proportions (mesomelia), the presence of minor abnormalities, and the search for subtle radiographic signs are important keys to the diagnosis which has to be confirmed by genetic analysis. The growth-promoting effect of GH therapy approved for individuals with SHOX mutations seems to be equal to the effect seen in Turner syndrome. PMID:21325865

Binder, Gerhard

2011-02-04

38

Controversies in the Definition and Treatment of Idiopathic Short Stature (ISS)  

Microsoft Academic Search

The term idiopathic short stature (ISS) refers to short children with no identifiable disorder of the growth hormone (GH)\\/insulin like growth factor (IGF) axis and no other endocrine, genetic or organ system disorder. This heterogeneous group of short children without GH deficiency (GHD) includes children with constitutional delay of growth and puberty, familial short stature, or both, as well as

Stefania Pedicelli; Emanuela Peschiaroli; Enrica Violi; Stefano Cianfarani

2009-01-01

39

Metacarpal index in short stature before and during growth hormone treatment  

Microsoft Academic Search

AIMSTo assess the usefulness of the metacarpal index (MCI) as a radiographic measure of the proportions of the metacarpals in the differential diagnosis of short stature. To investigate the significance of the MCI in following the longitudinal growth and proportions of individual long bones during growth hormone stimulated catch up growth in children with short stature with and without growth

Markus Bettendorf; Karl Graf; Mathias Nelle; Udo E Heinrich; Jochen Tröger

1998-01-01

40

Behavior change after growth hormone treatment of children with short stature  

Microsoft Academic Search

Objectives: To measure the prevalence of behavioral and learning problems among children with short stature and to assess the effect of growth hormone (GH) treatment on such problems.Study design: A total of 195 children with short stature (age range 5 to 16 years, mean age 11.2 years) were tested for intelligence, academic achievement, social competence, and behavior problems before beginning

Brian Stabler; Patricia T. Siegel; Richard R. Clopper; Catherine E. Stoppani; Peter G. Compton; Louis E. Underwood

1998-01-01

41

Growth Hormone Secretion in Children with Normal Variants of Short Stature  

Microsoft Academic Search

Pulsatile growth hormone (GH) secretion plays a central role in human growth during the prepubertal period of life. In order to investigate whether or not short stature in prepubertal children with normal variants of short stature (NVSS) may be explained, at least in part, by the presence of abnormalities in the pulsatile pattern of GH secretion, we have studied the

J. Pozo; J. Argente; V. Barrios; S. G. González-Parra; M. T. Muñoz; H. Hernandez

1994-01-01

42

Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature.  

PubMed

Short stature, with an incidence of 3 in 100, is a fairly frequent disorder in children. Idiopathic short stature refers to patients who are short due to various unknown reasons. Mutations of a human homeobox gene, SHOX (short stature homeobox), have recently been shown to be associated with the short stature phenotype in patients with Turner syndrome and most patients with Léri-Weill dyschondrosteosis. This study addresses the question of the incidence and type of SHOX mutations in patients with short stature. We analyzed the SHOX gene for intragenic mutations by single strand conformation polymorphism, followed by sequencing, in 750 patients and for complete gene deletions by fluorescence in situ hybridization in 150 patients (total, 900 patients). This is the largest group of patients with short stature studied to date for SHOX mutations. All patients had a normal karyotype, and their height for chronological age were below the third percentile or minus 2 SD of national height standards. All were without obvious skeletal features reminiscent of the Leri-Weill syndrome at the time of diagnosis. Silent, missense, and nonsense mutations and a small deletion in the coding region of SHOX were identified in 9 of the 750 patients analyzed for intragenic mutations. Complete gene deletions were detected in 3 of the 150 patients studied for gene deletions. At least 3 of the 9 intragenic mutations were judged to be functional based upon the genotype- phenotype relationship for the parents and normal control individuals. We conclude that SHOX mutations have been detected in 2.4% of children with short stature. The spectrum of SHOX mutations is biased, with the vast majority leading to complete gene deletions. The prevalence of short stature due to SHOX gene mutations among children with short stature appears to be similar to that of GH deficiency or Turner syndrome. Family studies of the children with SHOX mutations often reveal older family members with same mutation who exhibit mild skeletal features reminiscent of the Turner syndrome, such as high-arched palate, short neck, abnormal auricular development, cubitus valgus, genu valgum, short fourth metacarpals, and Madelung deformity. PMID:11889216

Rappold, Gudrun A; Fukami, Maki; Niesler, Beate; Schiller, Simone; Zumkeller, Walter; Bettendorf, Markus; Heinrich, Udo; Vlachopapadoupoulou, Elpis; Reinehr, Thomas; Onigata, Kazumichi; Ogata, Tsutomu

2002-03-01

43

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

PubMed Central

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 SHOX gene.

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

2007-01-01

44

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

PubMed Central

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

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

2013-01-01

45

Cytoplasmic and Nuclear STAT3 in GH-Stimulated Fibroblasts of Children with Idiopathic Short Stature  

Microsoft Academic Search

Background: STAT5, which plays an important role in GH signal transduction, has been studied extensively in children with growth retardation, but there is scarce information regarding STAT3. Aim: We determined total and phosphorylated STAT3 after GH stimulation in fibroblasts from children with idiopathic short stature (ISS) and control children with normal stature. Subjects and Methods: We studied 15 prepubertal children

Jonathan Martínez Pinto; Teresa Salazar; Paula Ocaranza; Ariel Fuentes; Rossana Román; Fernando Cassorla

2010-01-01

46

[Short stature caused by SHOX gene haploinsufficiency: from diagnosis to treatment].  

PubMed

Studies involving patients with short stature and partial deletion of sex chromosomes identified SHOX gene in the pseudoautosomal region of the X and Y chromosomes. SHOX haploinsufficiency is an important cause of short stature in a diversity of clinical conditions. It explains 2/3 of short stature observed in Turner syndrome (TS) patients. Heterozygous mutations in SHOX are observed in 77% of patients with Leri-Weill dyschondrosteosis, a common dominant inherited skeletal dysplasia and in 3% of children with idiopathic short stature, indicating that SHOX defects are the most frequent monogenetic cause of short stature. The sitting height/height ratio (SH/H) standard deviation score is a simple way to assess body proportions and together with a careful exam of other family members, effectively selected a group of patients that presented a high frequency of SHOX mutations. Growth hormone treatment of short stature due to TS is well established and considering the common etiology of short stature in patients with isolated defects of SHOX gene, this treatment is also proposed for these patients. Here, we review clinical, molecular and therapeutic aspects of SHOX haploinsufficiency. PMID:18797583

Jorge, Alexander A L; Nishi, Mirian Y; Funari, Mariana F A; Souza, Silvia C; Arnhold, Ivo J P; Mendonça, Berenice B

2008-07-01

47

Spontaneous growth in idiopathic short stature. European Study Group.  

PubMed Central

Documenting the spontaneous growth pattern of children with idiopathic short stature (ISS) should be helpful in evaluating the effects of growth promoting treatments. Growth curves for children with ISS were constructed, based on 229 untreated children (145 boys and 84 girls) from nine European countries. The children were subdivided according to target range and onset of puberty, and the growth of these subgroups was evaluated from standard deviation scores (SDS). At birth, children with ISS were already shorter than normal (means; boys -0.8 SDS, girls -1.3 SDS). Height slowly decreased from -1.7 SDS at the age of 2 years to -2.7 SDS at the age of 16 years in boys and 13 years in girls. Final height was -1.5 SDS in boys and -1.6 SDS in girls (mean (SD): boys 164.8 (6.1) cm, girls 152.7 (5.3) cm)), which was 5-6 cm below their target height. The onset of puberty was delayed (boys 13.8 (1.3) years, girls 12.9 (1.1) years). Subclassification resulted in similar growth curves. These specific growth data may be more suitable for evaluating the effects of growth promoting treatments than population based references.

Rekers-Mombarg, L T; Wit, J M; Massa, G G; Ranke, M B; Buckler, J M; Butenandt, O; Chaussain, J L; Frisch, H; Leiberman, E

1996-01-01

48

Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation  

Microsoft Academic Search

Purpose: Weill-Marchesani syndrome is characterized by spherophakia, short stature, short hands\\/feet, joint stiffness, and occasional cardiac abnormalities. The phenotype can be caused by recessive ADAMTS10 mutations or heterozygous fibrillin-1 mutation. In contrast, isolated spherophakia with short stature has been associated with three different homozygous ADAMTS17 mutations in three families from Saudi Arabia. The purpose of this report is to determine

A. O. Khan; M. A. Aldahmesh; H. Al-Ghadeer; J. Y. Mohamed; F. S. Alkuraya

2012-01-01

49

Rasopathies - dysmorphic syndromes with short stature and risk of malignancy.  

PubMed

The term ´Rasopathies´ represents a group of five neurodevelopmental syndromes (Noonan, LEOPARD, Costello, Cardio-facio-cutaneous, and Neurofibromatose-Noonan syndrome) caused by germline mutation in genes encoding proteins involved in RAS/MAPK (rat sarcoma/mitogen-activated protein kinase) signaling pathway. The RAS/MAPK signaling pathway participates in regulation of cell determination, proliferation, differentiation, migration, and senescence and dysregulation of this pathway can lead to the risk of tumorigenesis. In this review, we aim to summarize the current clinical and molecular genetic knowledge on Rasopathies with special attention for the risk of cancer. We propose also clinical and therapeutic approach for patients with malignancy.Methods. We are reviewing the clinical and molecular basis of Rasopathies based on recent studies, clinical examination, and molecular diagnostics (mutation analysis of causal genes for Rasopathies) in Slovak pediatric patients.Results. Some clinical features, such as short stature, a specific facial dysmorphology and cardiac abnormalities are common to all of Rasopathy syndromes. However, there are unique signs by which the syndromes can differ from each other, especially multiple lentigo in LEOPARD syndrome, increased risk of malignancy in Costello syndrome, dry hyperkeratotic skin in patients with cardio-facio-cutaneous syndrome, and neurofibromas and cafe-au-lait spots in neurofibromatosis-Noonan syndrome.Conclusion. Despite the overlapping clinical features, Rasopathy syndromes exhibit unique fenotypical features and the precise molecular diagnostics may lead to confirmation of each syndrome. The molecular diagnostics may allow the detection of pathogenic mutation associated with tumorigenesis. Keywords: Rasopathies, RAS/MAPK signaling pathway, tumor, leukemia. PMID:24156711

Cizmarova, M; Kostalova, L; Pribilincova, Z; Lasabova, Z; Hlavata, A; Kovacs, L; Ilencikova, D

2013-10-01

50

Identification of Short Stature Caused by SHOX Defects and Therapeutic Effect of Recombinant Human Growth Hormone  

Microsoft Academic Search

Point mutations or complete deletions of SHOX, the short-stature homeobox-containing gene on the pseudoautosomal region of the sex chromosomes (Xp22 and Yp11.3), were recently reported in one family with idiopathic short stature and in several families with Leri-Weill syndrome (dyschondrosteosis). The missing SHOX is also thought to attribute to the growth failure in Turner syndrome. For testing the frequency of

G. BINDER; C. P. SCHWARZE; M. B. RANKE

2010-01-01

51

Growth Hormone Is Effective in Treatment of Short Stature Associated with Short Stature Homeobox- Containing Gene Deficiency: Two-Year Results of a Randomized, Controlled, Multicenter Trial  

Microsoft Academic Search

Background: The short stature homeobox-containing gene, SHOX, located on the distal ends of the X and Y chromosomes, encodes a homeodomain transcription factor responsible for a significant pro- portion of long-bone growth. Patients with mutations or deletions of SHOX, including those with Turner syndrome (TS) who are haplo- insufficient for SHOX, have variable degrees of growth impairment, with or without

Werner F. Blum; Brenda J. Crowe; Charmian A. Quigley; Heike Jung; Dachuang Cao; Judith L. Ross

52

Psychosocial aspects of constitutional short stature: social competence, behavior problems, self-esteem, and family functioning.  

PubMed

To determine the psychosocial effects of short stature, we administered a battery of psychologic tests to 24 children (ages 6 to 12 years) with constitutional short stature. Their results were compared to those of a group of 23 healthy children with normal stature matched for age, IQ, sex, and socioeconomic status. The short children had significantly higher scores on parental ratings of behavioral difficulties, especially somatic complaints, social withdrawal, and schizoidal tendencies. There were also indications of impaired self-concept as expressed by feelings of unpopularity and dissatisfaction. Parental responses suggested a tendency to set less clear limits on behavior, but not necessarily toward overprotectiveness. Parents of short children also gave responses indicating poorer communication and cooperation among family members. In contrast to recent studies of growth hormone-deficient children, in which no maladjustment surfaced, these results indicate that children with constitutional delay have characteristic behavioral difficulties. PMID:7108676

Gordon, M; Crouthamel, C; Post, E M; Richman, R A

1982-09-01

53

Identification of a major recombination hotspot in patients with short stature and SHOX deficiency.  

PubMed

Human growth is influenced not only by environmental and internal factors but also by a large number of different genes. One of these genes, SHOX, is believed to play a major role in growth, since defects in this homeobox-containing gene on the sex chromosomes lead to syndromal short stature (Leri-Weill dyschondrosteosis, Langer mesomelic dysplasia, and Turner syndrome) as well as to idiopathic short stature. We have analyzed 118 unrelated patients with Leri-Weill dyschondrosteosis and >1,500 patients with idiopathic short stature for deletions encompassing SHOX. Deletions were detected in 34% of the patients with Leri-Weill dyschondrosteosis and in 2% of the patients with idiopathic short stature. For 27 patients with Leri-Weill dyschondrosteosis and for 6 with idiopathic short stature, detailed deletion mapping was performed. Analysis was performed by polymerase chain reaction with the use of pseudoautosomal polymorphic markers and by fluorescence in situ hybridization with the use of cosmid clones. Here, we show that, although the identified deletions vary in size, the vast majority (73%) of patients tested share a distinct proximal deletion breakpoint. We propose that the sequence present within this proximal deletion breakpoint "hotspot" region predisposes to recurrent breaks. PMID:15931595

Schneider, Katja U; Sabherwal, Nitin; Jantz, Karin; Röth, Ralph; Muncke, Nadja; Blum, Werner F; Cutler, Gordon B; Rappold, Gudrun

2005-06-01

54

Identification of a Major Recombination Hotspot in Patients with Short Stature and SHOX Deficiency  

PubMed Central

Human growth is influenced not only by environmental and internal factors but also by a large number of different genes. One of these genes, SHOX, is believed to play a major role in growth, since defects in this homeobox-containing gene on the sex chromosomes lead to syndromal short stature (Léri-Weill dyschondrosteosis, Langer mesomelic dysplasia, and Turner syndrome) as well as to idiopathic short stature. We have analyzed 118 unrelated patients with Léri-Weill dyschondrosteosis and >1,500 patients with idiopathic short stature for deletions encompassing SHOX. Deletions were detected in 34% of the patients with Léri-Weill dyschondrosteosis and in 2% of the patients with idiopathic short stature. For 27 patients with Léri-Weill dyschondrosteosis and for 6 with idiopathic short stature, detailed deletion mapping was performed. Analysis was performed by polymerase chain reaction with the use of pseudoautosomal polymorphic markers and by fluorescence in situ hybridization with the use of cosmid clones. Here, we show that, although the identified deletions vary in size, the vast majority (73%) of patients tested share a distinct proximal deletion breakpoint. We propose that the sequence present within this proximal deletion breakpoint “hotspot” region predisposes to recurrent breaks.

Schneider, Katja U.; Sabherwal, Nitin; Jantz, Karin; Roth, Ralph; Muncke, Nadja; Blum, Werner F.; Cutler, Jr., Gordon B.; Rappold, Gudrun

2005-01-01

55

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

PubMed Central

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

Frindik, J Paul; Kemp, Stephen F

2010-01-01

56

Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short Stature.  

PubMed

Context: Based on the stature observed in relatives of patients with acromesomelic dysplasia, type Maroteaux, homozygous for mutations in natriuretic peptide receptor B gene (NPR2), it has been suggested that heterozygous mutations in this gene could be responsible for the growth impairment observed in some children with idiopathic short stature (ISS). Objective: The objective of the study was to investigate the presence of NPR2 mutations in a group of patients with ISS. Patients and Methods: The NPR2 coding region was directly sequenced in 47 independent patients with ISS. The functional consequences of NPR2 nonsynonymous variations were established using in vitro cell-based assays. Results: Three novel heterozygous NPR2 mutations were identified: c.226T>C (p.Ser76Pro), c.788G>C (p.Arg263Pro), and c.2455C>T (p.Arg819Cys). These allelic variants were not found in our controls or in the 1000 Genomes database. In silico analysis suggested that the three missense mutations are probably damaging. All of them were selected for in vitro functional evaluation. Cells transfected with the three mutants failed to produce cyclic GMP after treatment with C-type natriuretic peptide. Cells cotransfected with mutant and wild-type-NPR-B (1:1) showed a significant decrease in cGMP levels after C-type natriuretic peptide stimulation in comparison with cells cotrasnfected with empty vector and wild type, suggesting a dominant-negative effect. These three mutations segregated with short stature phenotype in an autosomal dominant pattern (height SD score ranged from -4.5 to -1.7). One of these patients and two relatives have disproportionate short stature, whereas in another patient a nonspecific skeletal abnormality was observed. All three of these patients were treated with recombinant human GH (33-50 ?g/kg·d) without significant height SD score change during therapy. Conclusions: We identified heterozygous NPR2 mutations in 6% of patients initially classified as ISS. Affected patients have mild and variable degrees of short stature without a distinct phenotype. Heterozygous mutations in NPR2 could be an important cause of nonsyndromic familial short stature. PMID:24001744

Vasques, Gabriela A; Amano, Naoko; Docko, Ana J; Funari, Mariana F A; Quedas, Elisangela P S; Nishi, Mirian Y; Arnhold, Ivo J P; Hasegawa, Tomonobu; Jorge, Alexander A L

2013-09-03

57

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

SciTech Connect

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.

Schwinger, E.; Kirschstein, M.; Konermann, T. [Institut fuer Humangenetik, Hamburg (Germany)] [and others

1996-05-03

58

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

PubMed Central

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

Verweij, M; Kortmann, F

1997-01-01

59

Isolated haploinsufficiency of exon 1 of the SHOX gene in a patient with idiopathic short stature.  

PubMed

This paper reports the case of a 16-year-old woman with idiopathic short stature (ISS) who was detected to be haploinsufficient in only exon 1 of the short stature homeobox-containing (SHOX) gene by RQ-PCR and had two copies of the other six exons intact. The translation of the SHOX protein and of the SHOX promoter may be potentially affected if the deletion of exon 1 is extended further upstream. Further studies may help in determining the significance of partial exonic deletions of the SHOX gene in relation to ISS. PMID:16803952

Tan, Y-M; Loke, K-Y

2006-07-01

60

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

PubMed

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

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

61

Growth hormone therapy in patients with short stature homeobox-gene (SHOX) deficiency.  

PubMed

Short stature homeobox (SHOX) gene is located in the pseudoautosomal region 1 on the distal end of the X and Y chromosomes at Xp22.3 and Yp11.3. The haploinsufficiency of SHOX is correlated with short stature, Leri-Weill dyschondrosteosis, and Langer mesomelic dysplasia. Subjects with Turner syndrome (TS) present a SHOX haploinsufficiency that appears to be substantially responsible for their short stature. Several studies have shown a positive response to GH therapy in patients with TS. Short children with SHOX haploinsufficiency do not spontaneously catch up to attain a normal final height. Considering the positive effects obtained in patients with TS, GH therapy has been proposed for short stature due to isolated SHOX haploinsufficiency. The aim of this paper is to summarize the current data on GH administration in patients with SHOX haploinsufficiency. The conclusion is that GH therapy, at the same dosage used in patients with TS, induces a sustained catch-up growth and a height velocity and adult height gain in short patients with SHOX haploinsufficiency. PMID:21057184

Iughetti, L; Madeo, S; Predieri, B

2010-06-01

62

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

PubMed Central

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

Li, Mingyan; Zou, Chaochun; Zhao, Zhengyan

2012-01-01

63

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

Microsoft Academic Search

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

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

1981-01-01

64

Analysis of short stature homeobox-containing gene ( SHOX ) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity  

Microsoft Academic Search

Dyschondrosteosis (DCO; also called Léri-Weill syndrome) is a skeletal dysplasia characterised by disproportionate short stature because of mesomelic shortening of the limbs. Madelung deformity is a feature of DCO that is distinctive, variable in expressivity and frequently observed. Mutations of the SHOX (short stature homeobox-containing) gene have been previously described as causative in DCO. Isolated Madelung deformity (IMD) without the

Giedre Grigelioniene; Jacqueline Schoumans; Lo Neumeyer; Sten Anders Ivarsson; Ole Eklöf; Ove Enkvist; Paul Tordai; Inger Fosdal; Anne Grethe Myhre; Otto Westphal; Nils Östen Nilsson; Maria Elfving; Ian Ellis; Britt-Marie Anderlid; Ingegerd Fransson; Isabel Tapia-Paez; Magnus Nordenskjöld; Lars Hagenäs; Jan P. Dumanski

2001-01-01

65

Longitudinal auxological study in a female with SHOX (short stature homeobox containing gene) haploinsufficiency and normal ovarian function  

Microsoft Academic Search

Objective: To report on auxological data in the combination of SHOX (short stature homeobox contain- ing gene) haploinsufficiency and normal ovarian function. Design: Longitudinal auxological study in a 14 year 9 month old Japanese girl with Leri - Weill dyschondrosteosis accompanied by mesomelic short stature, who had a submicroscopic pseudoauto- somal deletion involving SHOX, and pubertal development of an almost

Maki Fukami; Nobutake Matsuo; Tomonobu Hasegawa; Seiji Sato; Tsutomu Ogata

2003-01-01

66

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

ERIC Educational Resources Information Center

|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…

Lichota, Malgorzata

2008-01-01

67

Microdontia with severe microcephaly and short stature in two brothers: osteodysplastic primordial dwarfism with dental findings.  

PubMed

Two brothers from a black family had microcephaly, short stature, and generalized microdontia. Endocrine and chromosome studies were normal, and mild skeletal manifestations were present. The patients may represent a distinct dental-skeletal dysplasia, possibly osteodysplastic primordial dwarfism type II. Attention to dental manifestations in similar cases may be useful for classification. PMID:8533804

Lin, H J; Sue, G Y; Berkowitz, C D; Brasel, J A; Lachman, R S

1995-08-28

68

Noonan Syndrome, the Ras–MAPK Signalling Pathway and Short Stature  

Microsoft Academic Search

Short stature, with a mean final height almost two standard deviations below the normal mean, is a major feature of Noonan syndrome. The biological basis of the growth failure is not yet clear. The recent detection of mutations in the protein tyrosine phosphatase, non-receptor type 11 gene (PTPN11) in half of all individuals with Noonan syndrome has opened up a

Gerhard Binder

2009-01-01

69

Management of Idiopathic Short Stature: Psychological Endpoints, Assessment Strategies and Cognitive-Behavioral Intervention  

Microsoft Academic Search

Background: In 2007, a Conference on Idiopathic Short Stature (ISS) endorsed the definition of ISS as a statistical (auxologic) rather than a medical (pathologic) deviation from the norm. Consequently, the ultimate criteria for evaluation of treatment in ISS shift from medical to psychological endpoints. Objective: This review synthesizes empirical evidence of psychological outcomes in treated and untreated subjects with ISS,

Meinolf Noeker

2009-01-01

70

Short Stature as the Major Manifestation of Celiac Disease in Older Children  

Microsoft Academic Search

Celiac disease was diagnosed by jejunal biopsy and response to gluten elimination in 11 of 23 children with short stature referred after negative endocrine evaluation. The mean age of the group was 11 years, with a range of 5-16. All had been followed for a mean of 2.5 years at a large pediatric endocrine clinic for the evaluation of growth

Yoram Rosenbach; Gabriel Dinari; Ilan Zahavi; Menachem Nitzan

1986-01-01

71

Association of maternal short stature with stunting in Mexican children: common genes vs common environment  

Microsoft Academic Search

Objective: To evaluate the association between stunting in children and maternal short stature, controlling for potential environmental confounders.Design: 1988 Mexico National Nutrition Survey.Setting: MexicoSubjects: The final sample size was 4663 pairs of children (<5 y) and their mothers (12–49 y) from a total of 13 236 surveyed houses.Main outcome measures: Stunting (height-for-age Z-scores

S Hernández-Díaz; KE Peterson; S Dixit; B Hernández; S Parra; S Barquera; J Sepúlveda; JA Rivera

1999-01-01

72

Growth hormone therapy with three dosage regimens in children with idiopathic short stature  

Microsoft Academic Search

Objective: In children with idiopathic short stature (ISS) we studied the growth-promoting effect at 4 years of recombinant human growth hormone (rhGH) therapy in three dose regimens and evaluated whether increasing the dosage after the first year could prevent a decline in height velocity (HV). Design: Included were 223 patents who were treated with subcutaneous administrations of rhGH 6 days

L. T. M. Rekers-Mombarg; G. G. Massa; J. M. Wit; A. M. C. Matranga; J. M. H. Buckler; O. Butenandt; J. L. Chaussain; H. Frisch; E. Leiberman; R. Yturriaga; T. Vulsma

1998-01-01

73

Seropositivity for celiac disease in children and adolescents with short stature  

Microsoft Academic Search

Objective: To assess the frequency of positive serological marker for celiac disease in children and adolescents with short stature using the human antibody anti-transglutami- nase as a screening test. Methods: This cross-sectional study was conducted from April to September\\/2004 with 78 children and adolescents selected by convenience when attending the outpatient clinic of two university hospitals of Recife, Northeast Bra-

Ana Carla; L. N. Gueiros

2009-01-01

74

Criteria for Determining Disability in Infants and Children: Short Stature. Evidence Report/Technology Assessment Number 73.  

National Technical Information Service (NTIS)

The Social Security Administration (SSA) requested that the Agency for Healthcare Research and Quality (AHRQ), through its Evidence-based Practice center (EPC) program, provide a systematic review of the scientific evidence about whether short stature in ...

B. Shephard K. Bresnahan P. Wheeler

2003-01-01

75

Growth Hormone Receptor Sequence Changes Do Not Play a Role in Determining Height in Children with Idiopathic Short Stature  

Microsoft Academic Search

Background\\/Aims: In children with short stature, in whom growth hormone deficiency has been excluded, the presence of a normal or elevated growth hormone concentration concomitant with low insulin-like growth factor I suggests growth hormone insensitivity (GHI). Previous reports suggest that heterozygous mutations in the growth hormone receptor gene (GHR) may account for about 5% of children with idiopathic short stature

Yasir Hujeirat; Ora Hess; Stavit Shalev; Yardena Tenenbaum-Rakover

2006-01-01

76

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

Microsoft Academic Search

The aim of the study was to analyze frequency of SHOX gene defects and selected dysmorphic signs in patients of both idiopathic short stature (ISS) and Léri–Weill dyschondrosteosis (LWD), all derived from the Czech population.Overall, 98 subjects were analyzed in the study. Inclusion criteria were the presence of short stature (?2.0 SD), in combination with at least one of the

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

77

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

Microsoft Academic Search

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

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

2012-01-01

78

Clinical application of automated Greulich-Pyle bone age determination in children with short stature  

Microsoft Academic Search

Background  Bone age (BA) rating is time consuming and highly rater dependent.\\u000a \\u000a \\u000a \\u000a Objective  To adjust the fully automated BoneXpert method to agree with the manual Greulich and Pyle BA (GP BA) ratings of five raters\\u000a and to validate the accuracy for short children.\\u000a \\u000a \\u000a \\u000a Materials and methods  A total of 1,097 left hand radiographs from 188 children with short stature, including growth hormone deficiency

David D. Martin; Dorothee Deusch; Roland Schweizer; Gerhard Binder; Hans Henrik Thodberg; Michael B. Ranke

2009-01-01

79

Rare Copy Number Variants Are a Common Cause of Short Stature  

PubMed Central

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

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

2013-01-01

80

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

PubMed

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

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

2013-03-14

81

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation.  

PubMed

Disproportionate short stature refers to a heterogeneous group of hereditary disorders that are classified according to their mode of inheritance, clinical skeletal and nonskeletal manifestations, and radiological characteristics. In the present study, we report on an autosomal-recessive osteocutaneous disorder that we termed SOFT (short stature, onychodysplasia, facial dysmorphism, and hypotrichosis) syndrome. We employed homozygosity mapping to locate the disease-causing mutation to region 3p21.1-3p21.31. Using whole-exome-sequencing analysis complemented with Sanger direct sequencing of poorly covered regions, we identified a homozygous point mutation (c.512T>C [p.Leu171Pro]) in POC1A (centriolar protein homolog A). This mutation was found to cosegregate with the disease phenotype in two families. The p.Leu171Pro substitution affects a highly conserved amino acid residue and is predicted to interfere with protein function. Poc1, a POC1A ortholog, was previously found to have a role in centrosome stability in unicellular organisms. Accordingly, although centrosome structure was preserved, the number of centrosomes and their distribution were abnormal in affected cells. In addition, the Golgi apparatus presented a dispersed morphology, cholera-toxin trafficking from the plasma membrane to the Golgi was aberrant, and large vesicles accumulated in the cytosol. Collectively, our data underscore the importance of POC1A for proper bone, hair, and nail formation and highlight the importance of normal centrosomes in Golgi assembly and trafficking from the plasma membrane to the Golgi apparatus. PMID:22840363

Sarig, Ofer; Nahum, Sagi; Rapaport, Debora; Ishida-Yamamoto, Akemi; Fuchs-Telem, Dana; Qiaoli, Li; Cohen-Katsenelson, Ksenya; Spiegel, Ronen; Nousbeck, Janna; Israeli, Shirli; Borochowitz, Zvi-Uri; Padalon-Brauch, Gilly; Uitto, Jouni; Horowitz, Mia; Shalev, Stavit; Sprecher, Eli

2012-07-26

82

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

PubMed

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

Grissom, Maureen

2013-07-01

83

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

PubMed Central

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

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

2012-01-01

84

Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome Is Caused by a POC1A Mutation  

PubMed Central

Disproportionate short stature refers to a heterogeneous group of hereditary disorders that are classified according to their mode of inheritance, clinical skeletal and nonskeletal manifestations, and radiological characteristics. In the present study, we report on an autosomal-recessive osteocutaneous disorder that we termed SOFT (short stature, onychodysplasia, facial dysmorphism, and hypotrichosis) syndrome. We employed homozygosity mapping to locate the disease-causing mutation to region 3p21.1-3p21.31. Using whole-exome-sequencing analysis complemented with Sanger direct sequencing of poorly covered regions, we identified a homozygous point mutation (c.512T>C [p.Leu171Pro]) in POC1A (centriolar protein homolog A). This mutation was found to cosegregate with the disease phenotype in two families. The p.Leu171Pro substitution affects a highly conserved amino acid residue and is predicted to interfere with protein function. Poc1, a POC1A ortholog, was previously found to have a role in centrosome stability in unicellular organisms. Accordingly, although centrosome structure was preserved, the number of centrosomes and their distribution were abnormal in affected cells. In addition, the Golgi apparatus presented a dispersed morphology, cholera-toxin trafficking from the plasma membrane to the Golgi was aberrant, and large vesicles accumulated in the cytosol. Collectively, our data underscore the importance of POC1A for proper bone, hair, and nail formation and highlight the importance of normal centrosomes in Golgi assembly and trafficking from the plasma membrane to the Golgi apparatus.

Sarig, Ofer; Nahum, Sagi; Rapaport, Debora; Ishida-Yamamoto, Akemi; Fuchs-Telem, Dana; Qiaoli, Li; Cohen-Katsenelson, Ksenya; Spiegel, Ronen; Nousbeck, Janna; Israeli, Shirli; Borochowitz, Zvi-Uri; Padalon-Brauch, Gilly; Uitto, Jouni; Horowitz, Mia; Shalev, Stavit; Sprecher, Eli

2012-01-01

85

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

PubMed Central

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.

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

2006-01-01

86

Hypotonia: Questions and Comments.  

ERIC Educational Resources Information Center

The article excerpts letters of eight parents whose children have cerebral hypotonia, an early symptom of brain damage characterized by a defective muscular condition. The problems which accompany hypotonia (such as feeding problems, retardation, respiratory distress, and seizures) are touched on. (SBH)

Klein, Stanley D.,Comp.

1979-01-01

87

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

PubMed

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

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

2012-03-03

88

The variability of responses to growth hormone therapy in children with short stature  

PubMed Central

Growth hormone (GH) is widely prescribed for children with short stature across a range of growth disorders. We describe the variability of responses seen in conditions approved for GH therapy. Although responses in different growth disorders are satisfactory, evidence is increasing for an unacceptably high rate of poor or unsatisfactory response (i.e., not leading to significant catch-up growth) in terms of change in height standard deviation score and height velocity. Consequently, there is a need to define a poor response and to prevent or correct it by optimizing treatment regimens. This review discusses the optimal investigation of the child who is a candidate for GH therapy so that a diagnosis-based guide to therapy and dosage can be made. The relevant parameters in the evaluation of growth response are described together with the definitions of a poor response.

Savage, Martin O.; Bang, Peter

2012-01-01

89

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

PubMed Central

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.

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

2012-01-01

90

Observed and Predicted Total Pubertal Growth during Treatment with Growth Hormone in Adolescents with Idiopathic Growth Hormone Deficiency, Turner Syndrome, Short Stature, Born Small for Gestational Age and Idiopathic Short Stature: KIGS Analysis and Review  

Microsoft Academic Search

Background\\/Aims: The aim was to describe the factors determining total pubertal growth (TPG) in adolescents with growth hormone deficiency (GHD), Turner syndrome (TS), who were small for gestational age (SGA) or had idiopathic short stature (ISS). Methods: The patients were documented within KIGS (Pfizer International Growth Database). TPG was defined as growth from puberty onset – spontaneous (>B1 or testes

Michael B. Ranke; Anders Lindberg

2011-01-01

91

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

PubMed

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

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

2012-08-01

92

Translocation (Y;22) resulting in the loss of SHOX and isolated short stature.  

PubMed

Chromosomal rearrangements involving both chromosome Y and chromosome 22 are rare, and may result in a number of different phenotypes. We report on a 4-year-old child with short stature and a dicentric chromosome with a deletion of the distal end of chromosome Yp. The pregnancy was uneventful, until intra-uterine growth retardation was noted. Prenatal karyotyping showed a (Y;22) translocation. No structural fetal abnormality was shown at ultrasound examination, and the pregnancy went to term. A growth-retarded boy with an otherwise normal physical examination was delivered at 39 weeks. At age 4, the child had short stature (-3 SD) without mental retardation. Radiological examination of the wrist was normal. A blood karyotype confirmed the chromosomal rearrangement previously seen on the amniotic fluid cells. C-banding showed a dicentric chromosome, and fluorescence in situ hybridization (FISH) with centromeric probes confirmed the presence of both chromosome Y and 22 centromeres on the derivative chromosome. The karyotype was thus 45,X,der(Y;22)(p11;q11)del(Y)(p11p11). Our patient's phenotype and chromosomal rearrangement prompted us to further investigate the distal Yp region. FISH using a subtelomeric probe showed a deletion of the distal Yp region. This technique also revealed that this chromosomal rearrangement resulted in the deletion of SHOX but not SRY. Although haploinsufficiency of SHOX may result in Léri-Weill Dyschondrosteosis, this diagnosis did not seem obvious in this young patient. This observation confirms the importance of FISH in the investigation of chromosomal abnormalities, and further delineates the phenotype of SHOX deleted patients. PMID:14981722

Borie, C; Léger, J; Dupuy, O; Hassan, M; Ledu, N; Lebbar, A; Czernichow, P; Eydoux, P

2004-03-01

93

Short stature with normal growth hormone and elevated IGF-I.  

PubMed

We report on a Japanese girl with short stature, malar hypoplasia, up-slanting palpebral fissures, blue sclerae and thin, stiff and slightly brownish hair. Short stature started in utero and her psychomotor development was normal. Menarche appeared at 13 years 8 months. Height at 14 years 5 months was 132 cm (-4.6 SD). Her growth hormone (GH) sleep pattern and responses to insulin, L-dopa, arginine, propranolol-glucagon and growth hormone-releasing hormone were normal. Plasma insulin-like growth factor I (IGF-I) was high (2170-4860 units/l) and increased from 4860 to 7080 units/l 20 h after biosynthetic GH injection. Gel infiltration patterns of the free and protein-bound IGF-I in plasma from the patient were not different from the controls; IGF-I fraction of the high and low molecular weight binding protein and the non-protein bound fraction were 75.5%, 15.8% and 8.7%, respectively. IGF-I from the patient showed normal bioactivities when determined by [35S]sulphate and [3H]thymidine uptake into cultured rat chondrocytes, and by [3H]thymidine and [3H]alpha-aminoisobutyric acid uptake into the patient's skin fibroblasts. IGF-I binding to cultured skin fibroblasts from the patient was comparable to that of controls. These results suggest that tissue specific defects of IGF-I receptors may be the cause of increased IGF-I levels in the patient. PMID:1396882

Momoi, T; Yamanaka, C; Kobayashi, M; Haruta, T; Sasaki, H; Yorifuji, T; Kaji, M; Mikawa, H

1992-05-01

94

Short stature and delayed puberty in gymnasts: Influence of selection bias on leg length and the duration of training on trunk length  

Microsoft Academic Search

Background: Delays in bone age, the onset of puberty, and skeletal growth in gymnasts could be, in part, the reason for an interest in gymnastics, rather than being the result of vigorous exercise. We hypothesized that short stature and delayed bone age are present at the start of gymnastics, and training delays growth, producing short stature, even after retirement. Methods:

Shona Bass; Michelle Bradney; Georgina Pearce; Elke Hendrich; Karen Inge; Stephen Stuckey; Sing Kai Lo; Ego Seeman

2000-01-01

95

Partial growth-hormone insensitivity: The role of growth-hormone receptor mutations in idiopathic short stature  

Microsoft Academic Search

Mutations in the GHR locus may play a role in the cause of idiopathic short stature (ISS) by impairing growth-hormone (GH) receptor (GHR) function. At one extreme, mutations that nullify the function of the GH receptor are linked to complete GH insensitivity syndrome, or Laron syndrome, and we hypothesized that less-disruptive mutations could contribute to partial GH insensitivity syndrome. Low

Audrey D. Goddard; Patrick Dowd; Steven Chernausek; Mitchell Geffner; Joseph Gertner; Raymond Hintz; Nancy Hopwood; Selna Kaplan; Leslie Plotnick; Alan Rogol; Robert Rosenfield; Paul Saenger; Nellie Mauras; Richard Hershkopf; Morris Angulo; Kenneth Attie

1997-01-01

96

XX male: a rare cause of short stature, infertility, gynaecomastia and carcinoma of the breast.  

PubMed

We present a case of an XX male with carcinoma of the breast and primary infertility. He was admitted to hospital with recurrent chest pains, but a history of surgery for breast carcinoma, gynaecomastia and the finding of bilaterally atrophied testes, coupled with the fact that he had never fathered children, necessitated further investigations. Chromosomal analysis showed a 46, XX male genotype with a normal X chromosome and an abnormal X chromosome formed by translocation between the short arm of one X chromosome and the Y chromosome. By using fluorescence in situ hybridisation, the patient proved to be SRY positive, the sex-determining region of the Y chromosome. In this rare genetic abnormality, males retain normal phenotype but they are generally of short stature, have gynaecomastia, and may have genital anomalies. They are infertile and at increased risk of developing carcinoma of the breast. This seems to be the first documented case of carcinoma of the breast in an SRY positive XX male. This particular case illustrates the need for all cases of male breast cancer to undergo full endocrinological assessment, especially in the presence of genital anomaly or infertility. PMID:14686579

Hado, H S H; Helmy, S W; Klemm, K; Miller, P; Elhadd, T A

2003-11-01

97

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

Microsoft Academic Search

SUMMARY. Undernutrition, especially in the prenatal period and\\/ or until 5 years of age, can cause stunting. Adults with short stature resultant from this process show a series of functional deficits, amongst which is a reduced capacity to do physical work. The aim of this investigation was to evaluate the dietary pattern, nutritional status and stature of sugarcane cutters, and

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

2008-01-01

98

Severe short stature due to 3-M syndrome with a novel OBSL1 gene mutation.  

PubMed

3-M syndrome is an underdiagnosed autosomal recessive disorder characterized by severe pre- and postnatal growth retardation with minimal dysmorphic features and distinguishing radiological findings. We report a patient who was first admitted at 7.5 years of age. He was born to consanguineous parents with a birth weight of 2250 g. Physical examination revealed a severe short stature (height, 95 cm; SD score -5.64) and minimal dysmorphic features. Biochemistry, endocrine work-up, and karyotype were normal. Reevaluation at 16.5 years of age revealed a height of 128.5 cm (SD score -5.27), prominent forehead, anteverted nasal openings, fleshy nasal tip, full lips, malar hypoplasia, hyperlordosis, prominent heels, testicular volumes 8-10 mL, and pubic hair consistent with Tanner stage II. Growth hormone trial for a year resulted in inadequate height gain (3 cm). The diagnosis of 3-M syndrome was made upon typical findings (thin long bones with diaphyseal narrowing and tall lumbar vertebrae) in a recent skeletal survey. Genetic analysis disclosed a homozygote frame shift mutation in exon 2: c.457_458delinsT resulting in p.Gly153fs. PMID:23457316

Demir, Korcan; Alt?nc?k, Ayça; Böber, Ece

2013-01-01

99

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

PubMed

Chromosomal microarray testing is commonly used to identify disease causing de novo copy number variants in patients with developmental delay and multiple congenital anomalies. In such a patient we now observed an 150?kb deletion on chromosome 7q21.11 affecting the first exon of the axon guidance molecule gene SEMA3A (sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A). This deletion was inherited from the healthy father, but considering the function of SEMA3A and phenotypic similarity to the knock-out mice, we still assumed a pathogenic relevance and tested for a recessive second defect. Sequencing of SEMA3A in the patient indeed revealed the de novo in-frame mutation p.Phe316_Lys317delinsThrSerSerAsnGlu. Cloning of the mutated allele in combination with two informative SNPs confirmed compound heterozygosity in the patient. While the altered protein structure was predicted to be benign, aberrant splicing resulting in a premature stop codon was proven by RT-PCR to occur in about half of the transcripts from this allele. Expression profiling in human fetal and adult cDNA panels, confirmed a high expression of SEMA3A in all brain regions as well as in adult and fetal heart and fetal skeletal muscle. Normal intellectual development in the patient was surprising but may be explained by the remaining 20% of SEMA3A expression level demonstrated by quantitative RT-PCR. We therefore report a novel autosomal recessive syndrome characterized by postnatal short stature with relative macrocephaly, camptodactyly, septal heart defect and several minor anomalies caused by biallelic mutations in SEMA3A. © 2013 Wiley Periodicals, Inc. PMID:24124006

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

2013-10-03

100

Vitamin D deficiency is associated with short stature and may influence blood pressure control in paediatric renal transplant recipients  

Microsoft Academic Search

Vitamin D deficiency is common in adult renal transplant recipients, but data in children are scarce. Vitamin D is shown to\\u000a have multiple effects on the cardiovascular system, renal function, and maintenance of bone health. We hypothesized that 25(OH)D\\u000a deficiency is common in pediatric renal transplant recipients, and may be associated with hyperparathyroidism, short stature,\\u000a renal function, and blood pressure

Rukshana Shroff; Craig Knott; Ambrose Gullett; David Wells; Stephen D. Marks; Lesley Rees

101

Clinical and Radiological Characteristics of 22 Children with SHOX Anomalies and Familial Short Stature Suggestive of Léri-Weill Dyschondrosteosis  

Microsoft Academic Search

Aims: To describe genetic, clinical, anthropometric and radiological characteristics of 22 children with SHOX gene anomalies and familial short stature suggestive of Léri-Weill dyschondrosteosis. Methods: Monocentric retrospective observational study. Results: Six children (27%) presented with deletions located downstream of SHOX (mean height –1.4 ± 0.9 SDS) and 16 (68%) with either deletions encompassing SHOX, intragenic deletions or point mutations of

Anne-Sophie Salmon-Musial; Myriam Rosilio; Michel David; Céline Huber; Emmanuel Pichot; Valérie Cormier-Daire; Marc Nicolino

2011-01-01

102

Highly Conserved Non-Coding Sequences and the 18q Critical Region for Short Stature: A Common Mechanism of Disease?  

PubMed Central

Background Isolated growth hormone deficiency (IGHD) and multiple pituitary hormone deficiency (MPHD) are heterogeneous disorders with several different etiologies and they are responsible for most cases of short stature. Mutations in different genes have been identified but still many patients did not present mutations in any of the known genes. Chromosomal rearrangements may also be involved in short stature and, among others, deletions of 18q23 defined a critical region for the disorder. No gene was yet identified. Methodology/Principal Findings We now report a balanced translocation X;18 in a patient presenting a breakpoint in 18q23 that was surprisingly mapped about 500 Kb distal from the short stature critical region. It separated from the flanking SALL3 gene a region enriched in highly conserved non-coding elements (HCNE) that appeared to be regulatory sequences, active as enhancers or silencers during embryonic development. Conclusion We propose that, during pituitary development, the 18q rearrangement may alter expression of 18q genes or of X chromosome genes that are translocated next to the HCNEs. Alteration of expression of developmentally regulated genes by translocation of HCNEs may represent a common mechanism for disorders associated to isolated chromosomal rearrangements.

Rizzolio, Flavio; Bione, Silvia; Sala, Cinzia; Tribioli, Carla; Ciccone, Roberto; Zuffardi, Orsetta; di Iorgi, Natascia; Maghnie, Mohamad; Toniolo, Daniela

2008-01-01

103

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

PubMed

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

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

2011-11-09

104

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

PubMed Central

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.

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

2012-01-01

105

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

PubMed Central

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

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

2013-01-01

106

Trisomy of the Short Stature Homeobox-Containing Gene (SHOX) due to Duplication\\/Deletion of the X Chomosome: Clinical Implications on the Stature  

Microsoft Academic Search

Background: The karyotypes of 2 patients with abnormal stature and different phenotypes revealed one similar structural abnormality in the X chromosome by conventional cytogenetic studies and fluorescence in situ hybridization analysis (FISH). FISH strongly suggested the presence of two copies of the SHOX gene in the der(X) chromosome. Patients and Results: Patient 1 is a teenager girl with tall stature,

Graciela del Rey; Héctor Jasper; Sonia Viviana Bengolea; Adriana Boywitt; Rodolfo De Bellis; Juan Jorge Heinrich

2010-01-01

107

Auxology Is a Valuable Instrument for the Clinical Diagnosis of SHOX Haploinsufficiency in School-Age Children with Unexplained Short Stature  

Microsoft Academic Search

SHOX (short stature homeobox-containing gene) mutations causing haploinsufficiency have been reported in some indi- viduals with idiopathic short stature and in many patients with Leri-Weill-dyschondrosteosis. Around 80% of SHOX mu- tations are complete gene deletions, whereas diverse point mutations account for the rest. The aim of this study was to estimate the prevalence of SHOX mutations in children with idiopathic

GERHARD BINDER; MICHAEL B. RANKE; DAVID D. MARTIN

108

Unfavorable effects of growth hormone therapy on the final height of boys with short stature not caused by growth hormone deficiency  

Microsoft Academic Search

A group of 18 boys with non-growth hormone (GH)-deficient short stature without GH therapy (group A) and another group of 9 boys with non-GH-deficient short stature with GH therapy in doses of 0.5 IU (0.17 mg)\\/kg per week administered 5 to 6 times weekly (group B) were observed until they reached their final height. The mean duration of GH therapy

Masahiko Kawai; Toru Momoi; Tohru Yorifuji; Chutaro Yamanaka; Hiroshi Sasaki; Kenshi Furusho

1997-01-01

109

Genome-wide association of copy-number variation reveals an association between short stature and the presence of low-frequency genomic deletions.  

PubMed

Height is a model polygenic trait that is highly heritable. Genome-wide association studies have identified hundreds of single-nucleotide polymorphisms associated with stature, but the role of structural variation in determining height is largely unknown. We performed a genome-wide association study of copy-number variation and stature in a clinical cohort of children who had undergone comparative genomic hybridization (CGH) microarray analysis for clinical indications. We found that subjects with short stature had a greater global burden of copy-number variants (CNVs) and a greater average CNV length than did controls (p < 0.002). These associations were present for lower-frequency (<5%) and rare (<1%) deletions, but there were no significant associations seen for duplications. Known gene-deletion syndromes did not account for our findings, and we saw no significant associations with tall stature. We then extended our findings into a population-based cohort and found that, in agreement with the clinical cohort study, an increased burden of lower-frequency deletions was associated with shorter stature (p = 0.015). Our results suggest that in individuals undergoing copy-number analysis for clinical indications, short stature increases the odds that a low-frequency deletion will be found. Additionally, copy-number variation might contribute to genetic variation in stature in the general population. PMID:22118881

Dauber, Andrew; Yu, Yongguo; Turchin, Michael C; Chiang, Charleston W; Meng, Yan A; Demerath, Ellen W; Patel, Sanjay R; Rich, Stephen S; Rotter, Jerome I; Schreiner, Pamela J; Wilson, James G; Shen, Yiping; Wu, Bai-Lin; Hirschhorn, Joel N

2011-11-23

110

Familial Xp22.33-Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short stature.  

PubMed

Patients with Xp deletions have short stature and may have some somatic traits typical of Turner syndrome (TS), whereas gonadal function is generally preserved. In most studies of these patients, microsatellites have been used to determine the break point of the Xp deletion. In the present study, we describe the clinical, cytogenetic, and chromosomal microarray (CMA) analysis of a family with an Xp22.33-Xp22.12 deletion. Two female siblings, aged 8 years 9 months and 11 years 10 months, presented with short stature. The older sibling's height (index case) was 137.9 cm (-1.81 SDS) and the younger sibling's height was 118.6 cm (-2.13 SDS). The mother and both daughters had only a short stature; a skeletal survey showed normal findings except for mildly shortened 4th and 5th metacarpal bones. No features of TS were present. The deletion appeared terminal with a breakpoint within Xp22.2 located about 19.9 Mb from the Xp telomere. The deletion contained 102 protein-coding genes. A probe of the end breakage point was located at the 19,908,986th base of the X chromosome, and a probe of the marginal normal region near the breakage point was located at the 19,910,848th base of the X chromosome. Therefore, the breakage point was concluded to be located between these two probes. In summary, we report a familial case of an Xp deletion. The findings of our study may be helpful in further analyzing the phenotypes associated with Xp deletions. PMID:22581654

Cho, Sung Yoon; Ki, Chang-Seok; Jang, Ja-Hyun; Sohn, Young Bae; Park, Sung Won; Kim, Se Hwa; Kim, Su Jin; Jin, Dong-Kyu

2012-05-11

111

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

PubMed

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

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

2011-10-14

112

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

PubMed Central

Background: Mutations and deletions of the homeobox transcription factor gene SHOX are known to cause short stature. The authors have analysed SHOX enhancer regions in a large cohort of short stature patients to study the importance of regulatory regions in developmentally relevant genes like SHOX. Methods: The authors tested for the presence of copy number variations in the pseudoautosomal region of the sex chromosomes in 735 individuals with idiopathic short stature and compared the results to 58 cases with Leri–Weill syndrome and 100 normal height controls, using fluorescence in situ hybridisation (FISH), single nucleotide polymorphism (SNP), microsatellites, and multiplex ligand dependent probe amplification (MLPA) analysis. Results: A total of 31/735 (4.2%) microdeletions were identified in the pseudoautosomal region in patients with idiopathic short stature; eight of these microdeletions (8/31; 26%) involved only enhancer sequences residing a considerable distance away from the gene. In 58 Leri–Weill syndrome patients, a total of 29 microdeletions were identified; almost half of these (13/29; 45%) involve enhancer sequences and leave the SHOX gene intact. These deletions were absent in 100 control persons. Conclusion: The authors conclude that enhancer deletions in the SHOX gene region are a relatively frequent cause of growth failure in patients with idiopathic short stature and Leri–Weill syndrome. The data highlights the growing recognition that regulatory sequences are of crucial importance in the genome when diagnosing and understanding the aetiology of disease.

Chen, J; Wildhardt, G; Zhong, Z; Roth, R; Weiss, B; Steinberger, D; Decker, J; Blum, W F; Rappold, G

2009-01-01

113

Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity.  

PubMed

Dyschondrosteosis (DCO; also called Léri-Weill syndrome) is a skeletal dysplasia characterised by disproportionate short stature because of mesomelic shortening of the limbs. Madelung deformity is a feature of DCO that is distinctive, variable in expressivity and frequently observed. Mutations of the SHOX (short stature homeobox-containing) gene have been previously described as causative in DCO. Isolated Madelung deformity (IMD) without the clinical characteristics of DCO has also been described in sporadic and a few familial cases but the genetic defect underlying IMD is unknown. In this study, we have examined 28 probands with DCO and seven probands with IMD for mutations in the SHOX gene by using polymorphic CA-repeat analysis, fluorescence in situ hybridisation (FISH), Southern blotting, direct sequencing and fibre-FISH analyses. This was combined with auxological examination of the probands and their family members. Evaluation of the auxological data showed a wide intra- and interfamilial phenotype variability in DCO. Out of 28 DCO probands, 22 (79%) were shown to have mutations in the SHOX gene. Sixteen unrelated DCO families had SHOX gene deletions. Four novel DCO-associated mutations were found in different families. In two additional DCO families, the previously described nonsense mutation (Arg195Stop) was detected. We conclude that mutations in the SHOX gene are the major factor in the pathogenesis of DCO. In a female proband with severe IMD and her unaffected sister, we detected an intrachromosomal duplication of the SHOX gene. PMID:11735031

Grigelioniene, G; Schoumans, J; Neumeyer, L; Ivarsson, A; Eklöf, O; Enkvist, O; Tordai, P; Fosdal, I; Myhre, A G; Westphal, O; Nilsson, N O; Elfving, M; Ellis, I; Anderlid, B M; Fransson, I; Tapia-Paez, I; Nordenskjöld, M; Hagenäs, L; Dumanski, J P

2001-10-19

114

Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia.  

PubMed

We studied two children with combined genetic skeletal disorders. Both had Leri-Weill dyschondrosteosis (LWD); one also had achondroplasia and the other had hypochondroplasia. Both had severe short stature and evidence of rhizomelia and mesomelia as well as other phenotypic features of their individual genetic disorders. Achondroplasia was due to the G380R FGF3R mutation and hypochondroplasia to a N540K mutation in the same gene. The patient with hypochondroplasia had a heterozygous SHOX deletion; no SHOX mutation was identified in the child with achondroplasia. The phenotypes of combined LWD and achondroplasia or hypochondroplasia appeared to be less than additive, suggesting that SHOX and FGFR3 act on overlapping pathways of bone growth and development. PMID:12476453

Ross, Judith L; Bellus, Gary; Scott, Charles I; Abboudi, Jack; Grigelioniene, Giedre; Zinn, Andrew R

2003-01-01

115

Psychometric properties of the Chinese version of the pediatric quality of life inventory 4.0 Generic core scales among children with short stature  

PubMed Central

Background The quality of life in children with short stature was rarely studied in China, so we explore these children’s quality of life and psychometric properties of the Chinese version of the Pediatric Quality of Life Inventory 4.0(PedsQL4.0) Generic Core Scales among children with short stature. Methods A total of 201 children aged 8 ~ 18 years from the short stature clinic and other clinics of capital institute of pediatrics attended this study. The questionnaires include demographic information and PedsQL4.0 generic core scales. According to children’s height, we divided them into three groups: short stature, normal short and normal group, then compared the score of scales by the height category. Moreover, we analyzed the reliability and validity of PedsQL4.0 generic core scales in these 201 children. Results The child self-report total PedsQL mean score, for the short stature, normal short and normal groups were 77.77 ± 9.69, 83.50 ± 8.56 and 87.36 ± 7.23; the parent-proxy total PedsQL mean score were 77.62 ± 10.50, 82.69 ± 8.35 and 84.91 ± 9.96 respectively. Both for children self- and parent proxy-reports, the Cronbach’s ? coefficients of total scale, psychosocial health and social functioning ranged between 0.74 and 0.80, it ranged between 0.51 and 0.66 in other dimensions. For child self-reports, the correlation coefficients of 17 items’ scores (total 23 items) with the scores of dimensions they belong to were above 0.5, with the highest 0.759; the other 6 items’ correlation coefficients were below 0.5, with the lowest 0.280. For parent proxy-reports, the correlation coefficients of 19 items’ scores with the scores of dimension they belong to were above 0.5, with the highest 0.793, the other 4 items’ below 0.5 with the lowest 0.243. Conclusions The quality of life in children with short stature is worse than their normal peers by Peds QL4.0 generic core scales, the statues of their quality of life was positively related to their stature.

2013-01-01

116

Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia  

PubMed Central

Background In total, 43 patients having short stature syndrome in 37 Yakut families with autosomal recessive prenatal and postnatal nonprogressive growth failure and facial dysmorphism but with normal intelligence have been identified. Methods Because Yakuts are considered as a population isolate and the disease is rare in other populations, genomewide homozygosity mapping was performed using 763 microsatellite markers and candidate gene approach in the critical region to identify the causative gene for the short stature syndrome in Yakut. Results All families shared an identical haplotype in the same region as the identical loci responsible for 3?M and gloomy face syndromes and a novel homozygous 4582insT mutation in Cullin 7 (CUL7) was found, which resulted in a frameshift mutation and the formation of a subsequent premature stop codon at 1553 (Q1553X). Yakut patients with short stature syndrome have unique features such as a high frequency of neonatal respiratory distress and few bone abnormalities, whereas the clinical features of the other Yakut patients were similar to those of 3?M syndrome. Furthermore, abnormal vascularisation was present in the fetal placenta and an abnormal development of cartilage tissue in the bronchus of a fetus with CUL7 mutation. Conclusion These findings may provide a new understanding of the clinical diversity and pathogenesis of short stature syndrome with CUL7 mutation.

Maksimova, N; Hara, K; Miyashia, A; Nikolaeva, I; Shiga, A; Nogovicina, A; Sukhomyasova, A; Argunov, V; Shvedova, A; Ikeuchi, T; Nishizawa, M; Kuwano, R; Onodera, O

2007-01-01

117

Age at Growth Hormone Therapy Start and First-Year Responsiveness to Growth Hormone Are Major Determinants of Height Outcome in Idiopathic Short Stature  

Microsoft Academic Search

Aim: To develop methods to identify factors associated with a favorable outcome in GH-treated children with idiopathic short stature (ISS). Methods: From 4,685 children listed as having ISS within KIGS (Pfizer International Growth Database), we studied (a) the prediction model group (n = 657) to develop the first-year prediction model, and (b) the near adult height group (NAH; n =

Michael B. Ranke; Anders Lindberg; David A. Price; Feyza Darendeliler; Kerstin Albertsson-Wikland; Patrick Wilton; Edward O. Reiter

2007-01-01

118

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

Microsoft Academic Search

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

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

2005-01-01

119

Short stature homeobox-containing gene duplication on the der(X) chromosome in a female with 45,X/46,X, der(X), gonadal dysgenesis, and tall stature.  

PubMed

We report on a Japanese female with 45,X[40]/46,X, der(X)[60], primary amenorrhea, and tall stature. She was confirmed to have complete gonadal dysgenesis at 19 yr of age and was placed on hormone replacement therapy. Growth assessment revealed that she had a low normal height until her early teens, but continued to grow with a nearly constant height velocity in her late teens, attaining a final height of 172 cm (+ 2.9 SD), which surpassed her target height range. Fluorescence in situ hybridization analysis for 10 loci/regions on the X-chromosome together with the whole X-chromosome and the Xp-specific and Xq-specific paintings showed that the der(X) chromosome was associated with duplication of roughly distal half of Xp, including SHOX (short stature homeobox-containing gene), and deletion of most of Xq. Microsatellite analysis for eight loci at Xp22 and nine loci at Xq26-28 indicated that the normal X-chromosome was of maternal origin, and the der(X) chromosome was of paternal origin. The results, in conjunction with the adult height data in 47,XXX, 46,XX gonadal dysgenesis, 47,XXY, 46,XY gonadal dysgenesis, and 46,X, idic(Xq-), suggest that the tall stature of this female is caused by the combined effects of SHOX duplication on the der(X) chromosome and gonadal estrogen deficiency. Furthermore, the similarity in the growth pattern between this female and patients with estrogen resistance or aromatase deficiency implies that the association of an extra copy of SHOX with gonadal estrogen deficiency may represent the further clinical entity for tall stature resulting from continued growth in late teens or into adulthood. PMID:10946905

Ogata, T; Kosho, T; Wakui, K; Fukushima, Y; Yoshimoto, M; Miharu, N

2000-08-01

120

Assessment of Psychosocial Status among Short-stature Children with and without Growth Hormone Therapy and Their Parents  

PubMed Central

To evaluate the psychosocial status of short children with and without growth hormone therapy (GHT) and that of their parents, self-administered questionnaires were collected from patients and parents who regularly visit the outpatient clinics participating in the Child Health and Development Network. Completed questionnaires were received for one hundred and thirteen patients with GHT and 67 patients without GHT. According to the parents, both children with GHT and without GHT have no difficulty in their daily lives (89% vs. 95%) and are positive (56% vs. 65%), respectively. Ninety-eight percent of parents of children with GHT and 83% of parents of children without GHT had expected the current treatment strategy to be effective. Parents of children with GHT are more satisfied with the current therapy than those without GHT (79% vs. 50%), and feel less anxiety about the on-going therapy than (31% vs. 58%, respectively). Children treated with or without equally reported having no difficulty in their daily lives (90% vs. 93%), and being positive in their lives (81% vs. 75%, respectively) despite their short stature. Although less than one third of the patients have been bullied in their classroom (26% with GHT vs. 29% without GHT), younger and shorter children tend to be bullied more often. Short children undergoing GHT and their parents have anxiety regarding their height and expectations of the effect of GHT. It is important for doctors to inform their patients regarding realistic height expectations before starting GHT. Additionally, medical consultation is recommended for patients who remain below –2 SD in height despite GHT.

Naiki, Yasuhiro; Horikawa, Reiko; Tanaka, Toshiaki

2013-01-01

121

Treatment of short stature in renal disease with recombinant human growth hormone  

Microsoft Academic Search

Six prepubertal children with chronic renal failure (group 1), six prepubertal children with renal transplants (group 2), and six pubertal children with renal transplants (group 3) who were short (mean height SD score, -3.2, range -4.5 to -1.6) and growing poorly (mean (range) growth velocity (cm\\/year) over the year before treatment: group 1, 4.8 (3.5-5.8), group 2, 2.3 (0.9-4.7), and

L Rees; S P Rigden; G Ward; M A Preece

1990-01-01

122

Calcium and vitamin D intake and biochemical tests in short-stature children and adolescents  

Microsoft Academic Search

Background:Growth is highly dependent on the absorption of nutrients. Inadequate calcium and vitamin D intake may compromise bone mineralization and growth. There is a great deal of concern regarding calcium and vitamin D intake, as well as biochemical changes in children and adolescents, which led us to investigate calcium and vitamin D levels during growth.Methods:Fifty-eight children and adolescents with short

A L Bueno; M A Czepielewski; F V Raimundo; AL Bueno

2010-01-01

123

Study of the leptin levels and its gene polymorphisms in patients with idiopathic short stature and growth hormone deficiency.  

PubMed

Leptin levels may regulate fat metabolism, skeletal growth, and puberty. Leptin gene variants affect risk of obesity, cancer, but their effect on onset of growth hormone deficiency (GHD) and idiopathic short stature (ISS) is unknown. We tested the hypothesis that the phenotype of GHD and ISS may be associated with polymorphism in the leptin gene. The prevalence of a single nucleotide polymorphism (SNP) in the leptin gene (LEP) promoter at -2548 and the leptin and insulin growth factor-1 (IGF-1) concentrations in GHD and ISS were compared to those of healthy controls. IGF-1 and leptin concentrations were significantly lower in both the GHD and ISS groups than in the control group. The ISS and GHD groups had a significantly different distribution of SNP alleles at the LEP -2548 (P = 0.010). Individuals with LEP -2548A/G or G/G genotype in ISS group (47.5%) showed a significantly lower weight and body mass index (BMI) (but not leptin levels) than individuals carrying the A/A genotype (52.5%). LEP -2548A/A in GHD patients (65.8%) was associated with lower weight, BMI, leptin concentrations than those of individuals carrying the A/G or G/G genotype (34.2%). These data suggest that the LEP -2548A polymorphism may associate with the weight and BMI of the children with ISS and GHD. PMID:22350661

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

2012-02-19

124

On longitudinal bone growth, short stature, and related matters: insights about cartilage physiology from the Utah paradigm.  

PubMed

Precursor cell division in growing cartilage determines human height, the lengths of the spine and limb bones, the alignment of joints, spines and limbs, and the ratio of spinal length to limb length. That division also helps to determine the sizes and shapes of joints, apophyses and epiphyses. Ideas about what controls those facts are changing. To former views, in which mainly genetic and humoral factors controlled them, the Utah paradigm of skeletal physiology adds long-overlooked biomechanical including muscular factors. These three kinds of factors would collaborate in controlling the precursor cell division that determines the above skeletal features. Problems with that control clearly cause or help to cause many clinical disorders. Examples include short stature, gigantism, premature and delayed skeletal maturation, some changes in fracture patterns associated with puberty, joint malalignments, congenital hip dysplasia, scoliosis, limb torsions, the ball-and-socket ankle, and some skeletal abnormalities in Marfan's syndrome and the osteochondrodystrophies. The physiology such things depend on has matured sufficiently to justify a review for pediatricians, endocrinologists and other clinical specialists, and many basic scientists. PMID:11393568

Frost, H M; Schönau, E

2001-05-01

125

Growth rates and the prevalence and progression of scoliosis in short-statured children on Australian growth hormone treatment programmes  

PubMed Central

Study design and aim This was a longitudinal chart review of a diverse group (cohort) of patients undergoing HGH (Human Growth Hormone) treatment. Clinical and radiological examinations were performed with the aim to identify the presence and progression of scoliosis. Methods and cohort 185 patients were recruited and a database incorporating the age at commencement, dose and frequency of growth hormone treatment and growth charts was compiled from their Medical Records. The presence of any known syndrome and the clinical presence of scoliosis were included for analysis. Subsequently, skeletally immature patients identified with scoliosis were followed up over a period of a minimum four years and the radiologic type, progression and severity (Cobb angle) of scoliosis were recorded. Results Four (3.6%) of the 109 with idiopathic short stature or hormone deficiency had idiopathic scoliosis (within normal limits for a control population) and scoliosis progression was not prospectively observed. 13 (28.8%) of 45 with Turner syndrome had scoliosis radiologically similar to idiopathic scoliosis. 11 (48%) of 23 with varying syndromes, had scoliosis. In the entire cohort, the growth rates of those with and without scoliosis were not statistically different and HGH treatment was not ceased because of progression of scoliosis. Conclusion In this study, there was no evidence of HGH treatment being responsible for progression of scoliosis in a small number of non-syndromic patients (four). An incidental finding was that scoliosis, similar to the idiopathic type, appears to be more prevalent in Turner syndrome than previously believed.

Day, Gregory A; McPhee, Ian Bruce; Batch, Jenny; Tomlinson, Francis H

2007-01-01

126

Transdermal estradiol priming during clonidine stimulation test in non-growth hormone deficient children with short stature: a pilot study.  

PubMed

The diagnosis of growth hormone (GH) deficiency is strongly influenced by age, body mass index and presence of gonadal steroids. Priming with oral estradiol (E2) is one possible way to overcome the impact of variable levels of sex steroids. We describe the effects of transdermal estradiol (E2-t) priming on GH response after clonidine stimulation in prepubertal children with familial short stature (group 1, n = 12) or constitutional growth delay (group 2, n = 22). All patients underwent a clonidine test (0.1 mg/m2, p.o.) followed by a clonidine plus E2-t test (50 microg/day) with a 7-day interval. Before E2-t, basal GH and insulin-like growth factor-I (IGF-I) values were similar in the two groups. After E2-t priming, basal GH was significantly higher only in group 2. When compared with group 1, patients from group 2 had a significant increase of GH peak response when submitted to E2-t. The number of patients in both groups with adequate GH peak response was higher after E2-t priming. We conclude that E2-t priming is able to increase GH peak response after clonidine stimulation and also improves the accuracy of the clonidine test in the diagnosis of GH deficiency. Compared to oral administration, E2-t delivery can prevent liver toxicity, providing a more physiological mechanism of GH secretion. PMID:16607922

Borghi, M M S; Longui, C A; Calliari, L E; Faria, C D C; Kochi, C; Monte, O

2006-03-01

127

Zip1, zip2, and zip8 mRNA expressions were associated with growth hormone level during the growth hormone provocation test in children with short stature.  

PubMed

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

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

2013-08-07

128

Growth Hormone Treatment in Children with Short Stature Born Small for Gestational Age: 5Year Results of a Randomized, Double-Blind, Dose-Response Trial  

Microsoft Academic Search

The growth-promoting effect of continuous GH treatment was eval- uated over 5 yr in 79 children with short stature (height SD score, less than 21.88) born small for gestational age (SGA; birth length SD score, less than 21.88). Patients were randomly and blindly assigned to 1 of 2 GH dosage groups (3 vs. 6 IU\\/m2 body surfacezday). GH deficiency was

THEO SAS; WOUTER DE WAAL; PAUL MULDER; MIEKE HOUDIJK; MAARTEN JANSEN; MAARTEN REESER; ANITA HOKKEN-KOELEGA

2006-01-01

129

A mouse model for human short-stature syndromes identifies Shox2 as an upstream regulator of Runx2 during long-bone development  

Microsoft Academic Search

Deficiencies or mutations in the human pseudoautosomal SHOX gene are associated with a series of short-stature conditions, including Turner syndrome, Leri-Weill dyschondrosteosis, and Langer mesomelic dysplasia. Although this gene is absent from the mouse genome, the closely related paralogous gene Shox2 displays a similar expression pattern in developing limbs. Here, we report that the conditional inactivation of Shox2 in developing

John Cobb; Andrée Dierich; Yolande Huss-Garcia; Denis Duboule

2006-01-01

130

Health-Related Quality of Life of Children and Adolescents with Growth Hormone Deficiency or Idiopathic Short Stature – Part 2: Available Results and Future Directions  

Microsoft Academic Search

Research on the health-related quality of life (HrQoL) impact of short stature and its treatment in children and adolescents has developed recently. Based on a PubMed literature search, studies addressing this issue were identified and considerable methodological problems mainly related to the HrQoL instruments used and conflicting results are discussed in this mini review. Additionally, this mini review identifies a

Monika Bullinger; David Sandberg; John Chaplin; Hartmut Wollmann; Meinolf Noeker; Anna Levke Brütt

2009-01-01

131

Impact of Aromatase Inhibitor Therapy on Bone Turnover, Cortical Bone Growth and Vertebral Morphology in Pre and Peripubertal Boys with Idiopathic Short Stature  

Microsoft Academic Search

In this randomized placebo-controlled study we examined the influence of aromatase inhibition on bone turnover, cortical bone growth, and vertebral body morphology in peripubertal boys. Thirty peripubertal boys with idiopathic short stature were treated with the aromatase inhibitor letrozole or placebo for 2 years. During treatment and posttreatment follow-up, dual-energy X-ray absorptiometry (DXA)-assessed bone mineral density, metacarpal index (MCI), and

Matti Hero; Outi Mäkitie; Heikki Kröger; Elina Nousiainen; Sanna Toiviainen-Salo; Leo Dunkel

2009-01-01

132

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

PubMed

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

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

2013-03-04

133

Severely Incapacitating Mutations in Patients with Extreme Short Stature Identify RNA-Processing Endoribonuclease RMRP as an Essential Cell Growth Regulator  

PubMed Central

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.

Thiel, Christian T.; Horn, Denise; Zabel, Bernhard; Ekici, Arif B.; Salinas, Kelly; Gebhart, Erich; Ruschendorf, Franz; Sticht, Heinrich; Spranger, Jurgen; Muller, Dietmar; Zweier, Christiane; Schmitt, Mark E.; Reis, Andre; Rauch, Anita

2005-01-01

134

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

PubMed

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

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

2008-03-01

135

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

PubMed

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

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

2010-02-01

136

Patterns of GH Output and Their Synchrony with Short Term Height Increments Influence Stature and Growth Performance in Normal Children  

Microsoft Academic Search

GH is the principal hormone driving growth throughout childhood, but the mechanism by which changing GH secre- tion is translated into height (Ht) remains undefined. We pre- viously demonstrated that variability in urinary GH (uGH) output over weeks is an important statistical determinant of stature in normal children. We now examine the relationship between the temporal pattern of uGH output

MATTHEW S. GILL; VALLO TILLMANN; JOHANNES D. VELDHUIS; PETER E. CLAYTON

137

Growth hormone treatment in children with short stature born small for gestational age: 5-year results of a randomized, double-blind, dose-response trial  

Microsoft Academic Search

The growth-promoting effect of continuous GH treatment was evaluated over\\u000a 5 yr in 79 children with short stature (height SD score, less than -1.88)\\u000a born small for gestational age (SGA; birth length SD score, less than\\u000a -1.88). Patients were randomly and blindly assigned to 1 of 2 GH dosage\\u000a groups (3 vs. 6 IU\\/m2 body surface-day). GH deficiency was not

T. C. J. Sas; Waal de W. J; M. Houdijk; M. Jansen; M. Reeser; P. G. H. Mulder; A. C. S. Hokken-Koelega

1999-01-01

138

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

PubMed

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

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

2003-10-01

139

Failure to improve height prediction in short-stature pubertal adolescents by inhibiting puberty with luteinizing hormone-releasing hormone analogue  

Microsoft Academic Search

A group of 17 endocrinologically normal short stature adolescent (9 females aged 11.8±1.5 years and 8 males aged 13.2±1.1 years) referred at a pubertal stage II–III according to Tanner with a height prediction below ?2.5 SD according to Bayley and Pinneau, were treated with long-acting D-Trp6-luteinizing hormone-releasing hormone (3.75 mg i.m. monthly for 24 months) and observed for a period

D. Lindner; J. C. Job; J. L. Chaussain

1993-01-01

140

Metabolic consequences of 5-year growth hormone (GH) therapy in children treated with GH for idiopathic short stature. Genentech Collaborative Study Group.  

PubMed

In a multicenter study the metabolic effects of 5 yr of GH therapy in children with idiopathic short stature were evaluated. Patients received 0.3 mg/kg.week recombinant human GH. Of the 121 patients who entered the study, data for 62 were analyzed at the final 5 yr point. Routine laboratory determinations were available for all 62 subjects at the 5 yr point. Special laboratory determinations, such as postprandial glucose and insulin, were available for only a subset of patients. Mean insulin-like growth factor I levels rose to 283 +/- 101 micrograms/L, within the normal range using age-appropriate reference standards. T4, cholesterol, triglycerides, blood chemistries, and blood pressure showed no significant changes during the 5-yr period. Mean baseline and 2-h postprandial glucose levels remained unchanged. Both fasting and postprandial insulin levels rose substantively from low normal levels to the normal range (median, 4.9-43 mU/L). Mean hemoglobin A1c levels remained within the normal range throughout the study. In summary, careful monitoring has not revealed any currently discernible metabolic side-effects of clinical significance after GH therapy in this 5-yr study of children with idiopathic short stature. PMID:9745413

Saenger, P; Attie, K M; DiMartino-Nardi, J; Hintz, R; Frahm, L; Frane, J W

1998-09-01

141

Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis.  

PubMed

Haploinsufficiency of the short stature homeobox gene SHOX has been found in patients with idiopathic short stature (ISS) and Leri-Weill dyschondrosteosis (LWD). In addition to complete gene deletions and nonsense mutations, several missense mutations have been identified in both patient groups, leading to amino acid substitutions in the SHOX protein. The majority of missense mutations were found to accumulate in the region encoding the highly conserved homeodomain of the paired-like type. In this report, we investigated nine different amino acid exchanges in the homeodomain of SHOX patients with ISS and LWD. We were able show that these mutations cause an alteration of the biological function of SHOX by loss of DNA binding, reduced dimerization ability, and/or impaired nuclear translocation. Additionally, one of the mutations (c.458G>T, p.R153L) is defective in transcriptional activation even though it is still able to bind to DNA, dimerize, and translocate to the nucleus. Thus, we demonstrate that single missense mutations in the homeodomain fundamentally impair SHOX key functions, thereby leading to the phenotype observed in patients with LWD and ISS. PMID:15931687

Schneider, Katja U; Marchini, Antonio; Sabherwal, Nitin; Röth, Ralph; Niesler, Beate; Marttila, Tiina; Blaschke, Rüdiger J; Lawson, Margaret; Dumic, Miroslav; Rappold, Gudrun

2005-07-01

142

Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: implications for disease mechanisms and recurrence risks.  

PubMed

Mutations or deletions in the SHOX gene cause Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD) when present in heterozygous or homozygous form, respectively. A new class of enhancer deletions was identified 30-250 kb downstream of SHOX. We identified a female patient with marked short stature, mosaic for monosomy X in 31% of her lymphocytes, and findings consistent with LWD. Additional molecular studies demonstrated segregation of 17 polymorphic markers flanking and including the SHOX locus, spanning 328 kb of pseudoautosomal region 1 (PAR1) region. A deletion up to 10 kb residing 197 kb downstream of SHOX gene was detected, which was germinally transmitted from her clinically unaffected father. This was associated with post-zygotic mosaic loss of the normal maternal X-chromosome, evidenced by fluorescent fragment analysis. Since most patients with LMD with deletions downstream of SHOX gene also have SHOX mutations in trans, it may suggest these deletions are associated with a milder phenotype. Further studies are required to elucidate the role of the former region in disease etiology. Mutations should be sought in clinically non-affected family members because of the variable expressivity in hemizygous carriers, and cytogenetic evaluation should be considered to detect possible X-chromosome rearrangements underlying the haploinsufficiency for the PAR1 when deletion is detected by molecular analysis. Similarly, when LWD and marked short stature occur in a patient with mosaic Turner syndrome, the possibility of mutations in SHOX and the downstream of SHOX gene should be considered. PMID:20683993

Reish, Orit; Huber, Céline; Altarescu, Gheona; Chapman-Shimshoni, Daphne; Levy-Lahad, Ephrat; Renbaum, Paul; Mashevich, Maya; Munnich, Arnold; Cormier-Daire, Valérie

2010-09-01

143

Bone Age Progression during the First Year of Growth Hormone Therapy in Pre-Pubertal Children with Idiopathic Growth Hormone Deficiency, Turner Syndrome or Idiopathic Short Stature, and in Short Children Born Small for Gestational Age: Analysis of Data from KIGS (Pfizer International Growth Database)  

Microsoft Academic Search

Background\\/Aims: The beneficial effects of growth hormone (GH) therapy on statural growth in children are well established, but the effects on skeletal maturation are less clear. The progression of bone age (BA) was therefore studied during the first year of GH treatment in pre-pubertal children with idiopathic GH deficiency (GHD), Turner syndrome (TS) or idiopathic short stature (ISS), and in

Feyza Darendeliler; Michael B. Ranke; Bert Bakker; Anders Lindberg; Christopher T. Cowell; Kerstin Albertsson-Wikland; Edward O. Reiter; David A. Price

2005-01-01

144

Agonadism in two sisters with XY gonosomal constitution, mental retardation, short stature, severely retarded bone age, and multiple extragenital malformations: a new autosomal recessive syndrome.  

PubMed

We report on 12- and 14-year old sisters with a 46, XY chromosome constitution, normal female external genitalia, and absence of gonadal tissue. Except for omphalocele, right renal agenesis and malrotation of the colon in the elder sister, the internal organs were normal. Both were mentally retarded, of short stature, and had extremely retarded bone age. In addition, they had an almost identical pattern of minor anomalies: peculiar face, hypodontia, short neck, inverted nipples, thoracolumbar scoliosis, "dysplastic" hips, partial clino-/syndactyly of toes. The occurrence of a basically similar set of malformations in two sisters and the first cousin consanguinity of the parents suggests autosomal recessive inheritance. The conserved region of the SRY gene ([high mobility group] HMG box) was sequenced in the elder sib and was normal. No consistent malformations are observed at present in agonadal patients. This supports the idea that several autosomal genes have the potential of influencing the sequence of events of sex determination. PMID:8849014

Kennerknecht, I; von Saurma, P; Brenner, R; Just, W; Barbi, G; Sorgo, W; Heinze, E; Wolf, A S; Schneider, V; Günther, K P

1995-10-23

145

Molecular Cytogenetic Characterization of a Non-Robertsonian Dicentric Chromosome 14;19 Identified in a Girl with Short Stature and Amenorrhea  

PubMed Central

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.

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

2012-01-01

146

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

PubMed

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

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

2011-07-12

147

A mouse model for human short-stature syndromes identifies Shox2 as an upstream regulator of Runx2 during long-bone development.  

PubMed

Deficiencies or mutations in the human pseudoautosomal SHOX gene are associated with a series of short-stature conditions, including Turner syndrome, Leri-Weill dyschondrosteosis, and Langer mesomelic dysplasia. Although this gene is absent from the mouse genome, the closely related paralogous gene Shox2 displays a similar expression pattern in developing limbs. Here, we report that the conditional inactivation of Shox2 in developing appendages leads to a strong phenotype, similar to the human conditions, although it affects a different proximodistal limb segment. Furthermore, using this mouse model, we establish the cellular etiology of these defects and show that Shox2 acts upstream the Runx2 gene, a key regulator of chondrogenesis. PMID:16537395

Cobb, John; Dierich, Andrée; Huss-Garcia, Yolande; Duboule, Denis

2006-03-13

148

A mouse model for human short-stature syndromes identifies Shox2 as an upstream regulator of Runx2 during long-bone development  

PubMed Central

Deficiencies or mutations in the human pseudoautosomal SHOX gene are associated with a series of short-stature conditions, including Turner syndrome, Leri–Weill dyschondrosteosis, and Langer mesomelic dysplasia. Although this gene is absent from the mouse genome, the closely related paralogous gene Shox2 displays a similar expression pattern in developing limbs. Here, we report that the conditional inactivation of Shox2 in developing appendages leads to a strong phenotype, similar to the human conditions, although it affects a different proximodistal limb segment. Furthermore, using this mouse model, we establish the cellular etiology of these defects and show that Shox2 acts upstream the Runx2 gene, a key regulator of chondrogenesis.

Cobb, John; Dierich, Andree; Huss-Garcia, Yolande; Duboule, Denis

2006-01-01

149

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

PubMed Central

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

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

2011-01-01

150

The basis for optimising growth with growth hormone usage in children with idiopathic short stature: analysis of data from KIGS (Pfizer International Growth Study Database).  

PubMed

Many children with idiopathic short stature (ISS) remain short as adults. Height can be improved permanently by growth hormone (GH) treatment, as in children with Turner syndrome or born small for gestational age. Although GH treatment for ISS is an approved indication in the United States, there is ongoing controversy in Europe about approving GH treatment for this indication as well as determining the optimal mode of treatment. In addition to data from randomized controlled trials, data from pharmacoepidemiological surveys such as the Pfizer International Growth Study Database (KIGS) have provided substantial information about the short-term and long-term effects of GH on growth and adult height in children with ISS. Based on published articles and a recent survey from KIGS on 454 patients who have reached adult height, we attempted to categorize those children with ISS who have the greatest chances of achieving a normal adult height, or at least gain the most height following GH treatment. This analysis provides a rational basis for discussion about the most efficacious and cost-effective uses of GH treatment in children with ISS. PMID:21912166

Ranke, Michael B; Lindberg, Anders

2011-09-07

151

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

Microsoft Academic Search

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

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

2006-01-01

152

Size of the exon 1-CAG repeats of the androgen receptor gene employed as a molecular marker in the diagnosis of Turner syndrome in girls with short stature.  

PubMed

Turner syndrome (TS) is one of the most common chromosomal abnormalities among girls. Complete monosomy of X chromosome is responsible for almost 50% of all cases of TS, and mosaicism and X anomaly are detected in the other half. It has already been demonstrated that early diagnosis of these children allows appropriate growth hormone treatment with better final height prognosis and introduction of estrogen at an ideal chronological age. Sixty-four short-stature girls were selected and the clinical data obtained were birth weight and height, weight and height at the first medical visit and target height. Other clinical data including cardiac and renal abnormalities, otitis, Hashimoto thyroiditis, cubitus valgus, short neck, widely separated nipples, and pigmented nevi were obtained from the patients' medical records. The aim of the present study was to evaluate the screening of a group of short-stature girls for TS based on the number of CAG repeats of the androgen receptor gene analyzed by GeneScan software. Patient samples with two alleles (heterozygous) were 49/64 (76.5%) and with one allele (homozygous) were 15/64 (23.5%). A karyotype was determined in 30 patients, 9 homozygous and 21 heterozygous. In the homozygous group, 6/9 were 45,X and 3/9 were 46,XX. In the heterozygous group, 17/21 were 46,XX, and 4/21 were TS patients with mosaicism (45,X/46,XX; 45,X/46XiXq; 46XdelXp). The pattern obtained by GeneScan in two patients with mosaicism in the karyotype was an imbalance between the peak heights of the two alleles, suggesting that this imbalance could be present when there is a mosaicism. The frequency of TS abnormalities (18.7%) did not differ between TS and 46,XX girls. Thus, it is important to accurately assess the incidence of TS in growth-retarded girls, even in the absence of other dysmorphisms. In this study, we diagnosed 6 cases of TS 45,X (9.4%) by molecular analysis, with a 100% sensitivity and 85% specificity. This molecular analysis was able to detect all cases of TS 45,X and the majority of mosaicisms, without the need for more X chromosome markers. In conclusion, determining the number of CAG repeats of the androgen receptor gene analyzed by GeneScan was a fast method with high sensitivity for the detection of TS 45,X, suggesting that it could be interesting as a method for screening a population of growth-retarded girls. PMID:18273818

Figueiredo, C C; Kochi, C; Longui, C A; Rocha, M N; Richeti, F; Evangelista, N M A; Calliari, L E P; Monte, O

2008-01-22

153

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

SciTech Connect

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

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

1992-12-01

154

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

Microsoft Academic Search

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

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

1984-01-01

155

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

PubMed Central

METHODS—A large family is described in which mental retardation segregates as an X linked trait. Six affected males in three generations were studied by linkage and clinical examination.?RESULTS—Characteristic clinical features include short stature, prominent lower lip, small testes, muscle wasting of the lower legs, kyphosis, joint hyperextensibility, abnormal gait, tremor, and decreased fine motor coordination. Affected subjects also had impaired speech and decreased attention span. A carrier female was mildly affected. A similar disorder was not found on review of our XLMR Database of 124 syndromes. Linkage analysis of 37 markers resulted in a lod score of 2.80 at DXS1212 and 2.76 at DXS425. The limiting markers were DXS424 and DXS1047. Ten of 124 XLMR syndromes and eight of 58 MRX families overlap this region.?CONCLUSIONS—In summary, this family appears to have a new XLMR syndrome localising to Xq24-q25.???Keywords: X linked mental retardation; Xq24-q25; syndrome

Cabezas, D.; Slaugh, R.; Abidi, F.; Arena, J; Stevenson, R.; Schwartz, C.; Lubs, H.

2000-01-01

156

A novel phenotype characterized by digital abnormalities, intellectual disability, and short stature in a Mexican family maps to Xp11.4-p11.21.  

PubMed

The family observed in this study included affected males and asymptomatic females. The patients shared specific digital abnormalities including postaxial polydactyly, cutaneous syndactyly, and brachydactyly. In addition, the patients exhibited mild-to-moderate intellectual disability and short stature coupled with microbrachycephaly, scoliosis, and cerebellar and renal hypoplasia. No chromosomal alterations or copy number variations were found in the index case. The genetic linkage analysis, which focused on the X chromosome, and the haplotype analysis detected a ~15.74 Mb candidate region located at Xp11.4-p11.21 with a LOD score of 4.8. Additionally, half of the mothers showed skewed X-inactivation, while the other mothers exhibited random inactivation patterns. The candidate region includes 28 protein-encoding genes that have not yet been implicated in human disorders. We speculate that the observed phenotype is compatible with a monogenic disorder in which the mutant gene plays a significant role during embryonic development. Based on the patients' clinical features, image studies, pedigree, chromosome location, and X-inactivation studies in the mothers, we propose that this family has a novel, specific syndrome with an X-linked recessive mode of inheritance. PMID:23307567

Barboza-Cerda, María C; Campos-Acevedo, Luis D; Rangel, Roberto; Martínez-de-Villarreal, Laura E; Déctor, Miguel A

2013-01-10

157

Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax.  

PubMed

In a man with severe mental retardation, minor facial and genital anomalies, disproportionate short stature and a broad thorax, we identified a de novo Xq13.2q21.1 duplication by array CGH. This 7 Mb duplication encompasses 23 known genes, including the X-linked mental retardation (XLMR) genes ATRX and SLC16A2. The phenotype of this patient is similar to that described in more than 10 previously reported patients with overlapping Xq duplications. Detailed comparison of the clinical characteristics and the function of the genes located in the commonly duplicated regions of these patients led us to the hypothesis that an increased dosage of ATRX and perhaps of other genes is involved in the pathogenetic mechanism of this XLMR phenotype, including mental retardation, short stature, and genital abnormalities comprising cryptorchidism and/or a small penis. PMID:19291773

Lugtenberg, Dorien; de Brouwer, Arjan P M; Oudakker, Astrid R; Pfundt, Rolph; Hamel, Ben C J; van Bokhoven, Hans; Bongers, Ernie M H F

2009-02-15

158

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

Microsoft Academic Search

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

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

2001-01-01

159

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

SciTech Connect

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

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

1984-02-01

160

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

PubMed

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

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

2012-09-23

161

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

PubMed Central

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

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

2010-01-01

162

Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients.  

PubMed

Defects in long-range regulatory elements have recently emerged as previously underestimated factors in the genesis of human congenital disorders. Léri-Weill dyschondrosteosis is a dominant skeletal malformation syndrome caused by mutations in the short stature homeobox gene SHOX. We have analysed four families with Léri-Weill dyschondrosteosis with deletions in the pseudoautosomal region but still with an intact SHOX coding region. Using fluorescence in situ hybridization and single nucleotide polymorphism studies, we identified an interval of approximately 200 kb that was deleted in all tested affected family members but retained in the unaffected members and in 100 control individuals. Comparative genomic analysis of this interval revealed eight highly conserved non-genic elements between 48 and 215 kb downstream of the SHOX gene. As mice do not have a Shox gene, we analysed the enhancer potential in chicken embryos using a green fluorescent protein reporter construct driven by the beta-globin promoter, by in ovo electroporation of the limb bud. We observed cis-regulatory activity in three of the eight non-genic elements in the developing limbs arguing for an extensive control region of this gene. These findings are consistent with the idea that the deleted region in the affected families contains several distinct elements that regulate Shox expression in the developing limb. Furthermore, the deletion of these elements in humans generates a phenotype apparently undistinguishable to those patients identified with mutations in the SHOX coding region and, for the first time, demonstrates the potential of an in vivo assay in chicken to monitor putative enhancer activity in relation to human disease. PMID:17200153

Sabherwal, Nitin; Bangs, Fiona; Röth, Ralph; Weiss, Birgit; Jantz, Karin; Tiecke, Eva; Hinkel, Georg K; Spaich, Christiane; Hauffa, Berthold P; van der Kamp, Hetty; Kapeller, Johannes; Tickle, Cheryll; Rappold, Gudrun

2007-01-02

163

Latitudinal patterns in human stature and sexual stature dimorphism  

Microsoft Academic Search

Background: There exists substantial variation in human stature and sexual stature dimorphism that has been attributed to both genetic and environmental variables. A few studies have previously investigated possible relationships between latitude and stature, building on the idea that variation in climate can influence body size (Bergmann's rule). This change in body size can in turn have influenced sexual stature

Anders Gustafsson; Patrik Lindenfors

2009-01-01

164

A novel intronic mutation in SHOX causes short stature by disrupting a splice acceptor site: direct demonstration of aberrant splicing by expression of a minigene in HEK-293T cells.  

PubMed

SHOX, the short stature homeobox-containing gene, encodes a critical regulatory protein controlling long bone growth. We examined patients in one family, identified an intronic mutation, and expressed SHOX minigenes in HEK293T cells to characterize the effect on gene splicing. We identified a novel mutation at position -3 (c.-432-3C>A;g.6120C>A) of the intron 1 splice acceptor site; three short (height Z-score -2.4 to -1.7) children were heterozygous and the father (height Z-score -3.4) was homozygous. A wild-type minigene produced alternative transcripts; one utilized the normal splice site between intron 1 and exon 2, the other a cryptic splice site in exon 2. Mutant SHOX minigene generated only the smaller transcript. The exon 2 acceptor splice site is weak; an alternative transcript is normally produced using a downstream cryptic splice site. The c.-432-3C>A mutation causes further weakening, and the cryptic splice site is preferentially utilized, resulting in SHOX deficiency and short stature. PMID:23426818

Danzig, Jennifer; Levine, Michael A

2012-01-01

165

Molecular breakpoint analysis and relevance of variable mosaicism in a woman with short stature, primary amenorrhea, unilateral gonadoblastoma, and a 46,X,del(Y)(q11)/45,X karyotype.  

PubMed

We report on a 30-year-old woman with short stature, completely female external genitalia, primary amenorrhea, bilateral streak gonads, unilateral gonadoblastoma, and a 46,X,del(Y)(q11)/45,X karyotype. Variable levels of mosaicism were found in blood and cultivated fibroblasts from both the skin and ovaries, with the percentage of the 45,X lineage never exceeding 33%. Fluorescence in situ hybridization (FISH) was performed with alpha satellite centromere region probes of the X and Y chromosomes (DXZ1 and DXZ3) as well as with the unique-sequence, locus-specific, sex-determining region of the Y chromosome gene (SRY) and the DXZ1 probes. Each signal was noted for DXZ1 on the X chromosome and for the Y probes on the marker chromosome. Molecular investigations with a panel of PCR markers spread over the whole Y chromosome indicated a deletion breakpoint between sY 78 (interval 4) and sY 151 (interval 5F). No mutation of the high mobility group-box (HMG-box) of the SRY gene could be found following sequence analysis. The phenotype/genotype correlation demonstrates the broad phenotypic range of low-level 45,X mosaicism with the resultant short stature and external female phenotype, despite the presence of SRY in a high proportion of cells in various tissues. PMID:12239720

Kotzot, Dieter; Dufke, Andreas; Tzschach, Andreas; Baeckert-Sifeddine, Iris-Tatjana; Geppert, Martin; Holland, Heidrun; Florus, Jobst M; Froster, Ursula G

2002-09-15

166

Infantile hypotonia with failure to thrive  

PubMed Central

Summary Background: Pompe disease is a lysosomal glycogen storage disease (GSDII) characterized by deficiency of acid glucosidase, resulting in lysosomal glycogen accumulation in multiple tissues, with cardiac and skeletal muscles being the most seriously affected. It manifests itself as a spectrum in multiple age groups including infancy, childhood and adulthood. Case Report: We present a case of infantile Pompe disease that was detected at a four month well visit in the presence of hypotonia and failure to thrive. Conclusions: Pompe disease can be diagnosed clinically by plotting growth parameters and performing developmental screening accurately. Enzyme replacement is the only available medical treatment for Pompe disease. High index of suspicion is necessary in diagnosing Pompe disease.

Nagiub, Mohamed; Alton, Karen; Anne, Premchand

2012-01-01

167

Answer to hypotonia: a simple hemogram.  

PubMed

A 1-year-old boy with weight loss, decreased activity, and psychomotor regression is presented. He was subjected to an extremely detailed evaluation, including electroencephalography (EEG) and magnetic resonance imaging (MRI), until a simple hemogram in our center revealed that he had macrocytic anemia with megaloblastic changes in the bone marrow. His history revealed that he had been exclusively breast-fed by his vegetarian mother. Further investigations showed low serum vitamin B12 concentration, methylmalonic aciduria, and homocysteinemia, indicating that the macrocytic anemia was due to vitamin B12 deficiency. This boy represents a case of macrocytic anemia and hypotonia owing to vitamin B12 deficiency that developed because of exclusive breast-feeding by a vegetarian mother. PMID:16417868

Kanra, Güler; Cetin, Mualla; Unal, Sule; Haliloglu, Goknur; Akça, Tulay; Akalan, Nejat; Kara, Ates

2005-11-01

168

Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature.  

PubMed

Deletions of the SHOX gene are well documented and cause disproportionate short stature and variable skeletal abnormalities. In contrast interstitial SHOX duplications limited to PAR1 appear to be very rare and the clinical significance of the only case report in the literature is unclear. Mapping of this duplication has now shown that it includes the entire SHOX gene but little flanking sequence and so will not encompass any of the long-range enhancers required for SHOX transcription. We now describe the clinical and molecular characterization of three additional cases. The duplications all included the SHOX coding sequence but varied in the amount of flanking sequence involved. The probands were ascertained for a variety of reasons: hypotonia and features of Asperger syndrome, Leri-Weill dyschondrosteosis (LWD), and a family history of cleft palate. However, the presence of a duplication did not correlate with any of these features or with evidence of skeletal abnormality. Remarkably, the proband with LWD had inherited both a SHOX deletion and a duplication. The effect of the duplications on stature was variable: height appeared to be elevated in some carriers, particularly in those with the largest duplications, but was still within the normal range. SHOX duplications are likely to be under ascertained and more cases need to be identified and characterized in detail in order to accurately determine their phenotypic consequences. PMID:19533800

Thomas, N Simon; Harvey, John F; Bunyan, David J; Rankin, Julia; Grigelioniene, Giedre; Bruno, Damien L; Tan, Tiong Y; Tomkins, Susan; Hastings, Robert

2009-07-01

169

[The Castillo-Morales method in children with orofacial hypotonia].  

PubMed

Recently great attention is paid to hypotonia of the orofacial region because this disorder is a great handicap for mentally normal children. In the submitted paper the authors demonstrate treatment of a girl who suffered from hypotonia of the orofacial region with hypersalivation to the age of four years. After intensive therapy complete normalization of this developmental defect was achieved. PMID:8252656

Polásková, B; Nováková, K; Slezáková, E

1993-09-01

170

Stature estimation from foot dimensions  

Microsoft Academic Search

Identification of an individual is the mainstay in forensic investigations. The dimensions of the foot have been used for the determination of sex, age, and stature of an individual. The present study examines the relationship between stature and foot dimensions among Gujjars, a North Indian endogamous group. Stature, foot length and foot breadth of 200 subjects comprising 100 males and

Tanuj Kanchan; Ritesh G. Menezes; Rohan Moudgil; Ramneet Kaur; M. S. Kotian; Rakesh K. Garg

2008-01-01

171

Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis  

Microsoft Academic Search

A neonate with deficiency of branching enzyme (glycogenosis type IV) presented symptoms of severe hypotonia pre- and postnatally, and dilated cardiomyopathy in early infancy. The classical clinical manifestation of liver cirrhosis was not present, although amylopectin-like inclusions were found in the hepatocytes. In contrast to a previous report, the neurons in the brain stem and spinal anterior horns contained PAS-positive,

Thomas T. Tang; Annette D. Segura; Yuan-Tsong Chen; Lucia M. Ricci; Ralph A. Franciosi; Mark L. Splaingard; Mark S. Lubinsky

1994-01-01

172

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

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.

McElreavey, K.; Barbaux, S.; Vilain, E. [Immunogenetique Humaine 25 rue du Dr. Roux, Paris (France)] [and others

1994-09-01

173

Cohen syndrome - a rare genetic cause of hypotonia in children  

PubMed Central

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

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

2010-01-01

174

Cohen syndrome - a rare genetic cause of hypotonia in children.  

PubMed

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

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

2010-01-01

175

Shrinking stature; a new risk factor for arterial stiffness  

Microsoft Academic Search

Pulse pressure (PP) is one of useful markers for arterial stiffness. In addition to reduced Windkessel function, the timing of arterial wave reflection also affects the shape of the arterial waveform and thus is a major determinant of PP. Since a distance to the reflection points is a determinant of the arrival timing, short stature, which increases PP through an

Yasuharu Tabara; Rieko Tachibana-Iimori; Ryuichi Kawamoto; Miyuki Yamamoto; Ikuko Kondo; Tetsuro Miki; Katsuhiko Kohara

2005-01-01

176

Salt Tolerance in Short Stature Grasses.  

National Technical Information Service (NTIS)

In this project, researchers used extensive laboratory, greenhouse, and field studies to determine the relative salt tolerance of select native grasses and forbs used to re-vegetate rights-of-ways within four meters of the pavement edge. The studies found...

D. D. Biesboer S. Neid B. Darveaux

1998-01-01

177

Diagnostic Approach in Children with Short Stature  

Microsoft Academic Search

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

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

2009-01-01

178

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

Microsoft Academic Search

Sib-pair linkage analysis of the quantitative trait, stature, in over 500 Pima Indians indicates that a genetic determinant of governing stature is located on chromosome 20. Analysis of 10 short tandem repeat polymorphisms localized this linkage to a 3. cM region that includes D20S98 and D20S66. Using all possible sib-pair combinations, linkage was detected to both stature (P = 0.0001)

D. Bruce Thompson; Victoria Ossowski; Rachel C. Janssen; William C. Knowler; Clifton Bogardus

1995-01-01

179

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

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. PMID:22029166

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

180

[Tall stature: some classical syndromes].  

PubMed

We describe the findings of XYY syndrome in the setting of encountering an individual with this particular condition in the endocrinology clinic. XYY syndrome is a relatively frequent if unfamiliar condition, which is characterized by taller than average height. The extra Y chromosome may play a role in determining the height of these individuals. From this case, a differential diagnosis of tall stature is outlined, in addition to a description of the principal syndromes associated with gigantism. These primarily include Klinefelter syndrome, Marfan syndrome, androgen resistance and growth hormone excess. These various entities are described from the point of view of their symptomatology, biology, pathophysiology and therapeutic characteristics. PMID:17020230

Gusbin, N; Verloes, A; Daly, A; Beckers, A

181

Stature and gender estimation using foot measurements  

Microsoft Academic Search

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

Gulsah Zeybek; Ipek Ergur; Zehra Demiroglu

2008-01-01

182

Stature and the Standard of Living  

Microsoft Academic Search

Research on the standard of living now emphasizes alternatives or supplements to the national income accounts. This paper reviews the results of two decades of research using stature as a measure of health aspects of human welfare. After comparing and contrasting stature with per capita income, I consider height patterns discovered by economic historians that challenge traditional beliefs about the

Richard H. Steckel

1995-01-01

183

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

SciTech Connect

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

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

1996-12-30

184

Genetics Home Reference: Costello syndrome  

MedlinePLUS

... that is abnormally turned on (active). The overactive protein directs cells to grow and divide constantly, which can lead to the ... division ; gene ; growth hormone ; hormone ; hypertrophic ; hypotonia ; malformation ; ... rhabdomyosarcoma ; short stature ; stature ; syndrome ; tissue ; transitional cell ...

185

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

Microsoft Academic Search

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

Pareren van Y. K

2006-01-01

186

Sexual dimorphism in foot length proportionate to stature  

Microsoft Academic Search

Background: The preponderance of existing results suggests that, relative to stature, women have smaller feet than men. However, several investigations indicate that the relationship between foot length and stature may be curvilinear, a pattern that, due to the dimorphic nature of stature, would mask the true direction of pedal sexual dimorphism in published results. Aim: The study aimed to determine

Daniel M. T. Fessler; Kevin J. Haley; Roshni D. Lal

2005-01-01

187

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

ERIC Educational Resources Information Center

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

Cohen, M. Michael, Jr.; And Others

1973-01-01

188

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

ERIC Educational Resources Information Center

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

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

2013-01-01

189

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

ERIC Educational Resources Information Center

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

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

2013-01-01

190

Application of the anatomical method to estimate the maximum adult stature and the age-at-death stature.  

PubMed

This study focuses on the age adjustment of statures estimated with the anatomical method. The research material includes 127 individuals from the Terry Collection. The cadaveric stature (CSTA)-skeletal height (SKH) ratios indicate that stature loss with age commences before SKH reduction. Testing three equations to estimate CSTA at the age at death and CSTA corrected to maximum stature from SKH indicates that the age correction of stature should reflect the pattern of age-related stature loss to minimize estimation error. An equation that includes a continuous and linear age correction through the entire adult age range [Eq. (1)] results in curvilinear stature estimation error. This curvilinear stature estimation error can be largely avoided by applying a second linear equation [Eq. (2)] to only individuals older than 40 years. Our third equation [Eq. (3)], based on younger individuals who have not lost stature, can be used to estimate maximum stature. This equation can also be applied to individuals of unknown or highly uncertain age, because it provides reasonably accurate estimates until about 60/70 years at least for males. Am J Phys Anthropol 152:96-106, 2013. © 2013 Wiley Periodicals, Inc. PMID:23907777

Niskanen, Markku; Maijanen, Heli; McCarthy, Donna; Junno, Juho-Antti

2013-07-30

191

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

PubMed

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

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

2012-04-11

192

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

Microsoft Academic Search

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

Dalibor Valik; Philip T Miner; James D Jones

1997-01-01

193

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

PubMed

Adenylosuccinate lyase (ASL) deficiency is a defect in purine de novo synthesis pathway. The disease has variable clinical presentation involving psychomotor retardation, seizures, hypotonia, and autism. The presence of succinyladenosine and succinylaminoimidazole carboxamide riboside (SAICA riboside) in body fluids characterizes the biochemical phenotype. All cases of ASL deficiency described to date have been diagnosed in Europe. Using a high-resolution thin-layer chromatography (TLC) technique combining screening for ASL deficiency and disorders of saccharide metabolism, we found the first case of this disease in the US. The patient presented with delayed motor development and profound hypotonia. The family history and routine laboratory tests were negative. Screening for metabolic disorders detected the presence of succinyladenosine and SAICA riboside in urine. The activity of ASL in the patient's skin fibroblasts was 43% of controls (patient, mean = 1.20 nmol/min/mg of protein, s = 0.21, n = 3; controls, mean = 2.78 nmol/min/mig of protein, s = 0.61, n = 7). In a 15-month-old girl with profound hypotonia, we established the diagnosis of ASL deficiency by demonstrating succinyladenosine and SAICA riboside in urine and decreased residual activity of ASL in skin fibroblasts. PMID:9165520

Valik, D; Miner, P T; Jones, J D

1997-04-01

194

Current Bibliographies in Medicine: Growth Hormones and Short Stature.  

National Technical Information Service (NTIS)

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

P. S. Tillman

1989-01-01

195

Cognitive and Emotional Functioning in Hypopituitary Short-Statured Children  

Microsoft Academic Search

Eleven children with documented growth hormone deficiency were studied to assess their cognitive and emotional functioning and their academic achievement before and after 1 year of human growth hormone replacement therapy. Standardized personality and intelligence measures were used, and records of school achievement, as well as developmental and family history from parents, were obtained. Although some subjects in this group

Deborah Abbott; Diane Rotnem; Myron Genel; Donald J. Cohen

1982-01-01

196

Small for Gestational Age: Short Stature and Beyond  

Microsoft Academic Search

Depending on the definitions used, up to 10% of all live-born neonates are small for gestational age (SGA). Although the vast majority of these children show catch-up growth by 2 yr of age, one in 10 does not. It is increasingly recognized that those who are born SGA are at risk of developing metabolic disease later in life. Reduced fetal

Paul Saenger; Paul Czernichow; Ieuan Hughes; Edward O. Reiter

2006-01-01

197

FISH deletion mapping defines a single location for the Y chromosome stature gene, GCY  

Microsoft Academic Search

At least 1 in 1000 males lacks part of the long arm of the Y chromosome. This chromosomal aberration is often associated with short stature and infertility. Deletion mapping and genotype-phenotype analysis have previously defined two non-overlapping critical regions for growth controlling gene(s), GCY(s), on the euchromatic portion of the Y chromosome long arm. These initial mapping assignments were based

Stefan Kirsch; B Weiss; M De Rosa; T Ogata; G Lombardi; G A Rappold

2000-01-01

198

A female infant with hypotonia, developmental delay, transitional hearing loss and 22q13.1 deletion  

Microsoft Academic Search

Chromosome 22q13 deletion syndrome (MIM 606232) is associated with global developmental delay, generalized hypotonia, absent or severely delayed speech, normal to accelerated growth, and specific facial features. We report a female infant with persistent hypotonia, transitional hearing loss, developmental delay, specific facial features, and a terminal deletion of chromosome 22q13.1. Parental chromosomal studies demonstrated that the deletion was de novo.

Chulaluck Techakittiroj; Hans Andersson; Kelly Jackson; Chris Dvorak; Marilyn Li

199

Evolutionary trends of stature in Upper Paleolithic and Mesolithic Europe  

Microsoft Academic Search

Long bone lengths of all available European Upper Paleolithic (41 males, 25 females) and Mesolithic (171 males, 118 females) remains have been transformed into stature estimates by means of new regression equations derived from Early Holocene skeletal samples using “Fully's anatomical stature” and the major axis regression technique (Formicola & Franceschi, 1996). Statistical analysis of the data, with reference both

Vincenzo Formicola; Monica Giannecchini

1999-01-01

200

Stature and sex estimate using foot and shoe dimensions  

Microsoft Academic Search

Abstract The aim of the study was to develop a formula to estimate the stature and sex of an individual using foot and shoe dimensions. To this aim the stature, right and left shoe sizes, and maximum and minimum feet length and width measurements of a target group of 569 individuals were taken. The group was composed,of 294 males and

Hilmi Ozden; Yasemin Balci; Canan Demiru Stu; Akin Turgut; Mehmet Ertugrul

201

Predicting adult stature from metatarsal length in a Portuguese population  

Microsoft Academic Search

Stature can be considered one of the “big four” parameters to be ascertained within the biological profile in cases of forensic anthropology. However, the most reliable available methods for stature estimation require the preservation of the long bones, but since this is very often not the case, the development of alternative methods, based on distinct bones, is mandatory. Therefore, in

Cristina Cordeiro; José I. Muñoz-Barús; Sofia Wasterlain; Eugénia Cunha; Duarte N. Vieira

2009-01-01

202

Stature estimation from foramen magnum region in chinese population.  

PubMed

Estimation of stature from body parts plays a vital role in identifying the dead. This study focused on dimensions of the foramen magnum region and examined the relationship between stature and the dimensions of the foramen magnum region in northern and southern Chinese populations. Measurements were taken on the skulls of 276 individuals (all male). Data on 48 individuals from northern China and 140 from southern China were used for further stature reconstruction of the above two populations in China. Statistical analyses indicate that bilateral variation is insignificant for all measurements except maximum length of condyle in the southern Chinese population (p < 0.01) and that the northern and southern populations differ significantly only in the minimum distance between condyles. Linear and multiple regression equations for stature estimation were established. The correlation coefficients between stature and the various measurements differed between the northern and southern Chinese populations. PMID:23879315

Cui, Yaming; Zhang, Jizong

2013-07-23

203

Quality of life in short adults.  

PubMed

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. PMID:9438783

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

1998-01-01

204

Effects of target location, stature and hand grip type on in-vehicle reach discomfort.  

PubMed

In order to improve car interior design, data of perceived discomfort and reach posture were collected for 75 different target locations. Altogether, 24 males and females of different statures participated in the experiment. In addition to three-finger grip, index fingertip reach and five finger grip were also compared. The effects of target location, stature and hand grip on reach discomfort were analysed. Predictive regression equations were provided. In addition to the confirmation of target location effects, the results showed that seat back and steering wheel affected discomfort. Their effects differed according to the subject's anthropometry. A detailed analysis of possible interference between the car interior and reach movement showed that short females were more likely impeded by the seat back when a target was close to the body. A significant difference between three hand grip types could be explained by the change of hand reach distance when changing hand grip type. STATEMENT OF RELEVANCE: The present study analysed the effects of target location, stature and hand grip type on reach discomfort, based on the statistical analysis of subjective ratings when reaching a target in a vehicle. The results would help to optimise the location of automotive controls for improving car interior design. PMID:21547791

Wang, Xuguang; Trasbot, Jules

2011-05-01

205

Celiac disease in children with short staure  

Microsoft Academic Search

Objective  The aim of the present study was to determine the prevalence of celiac disease in children with short stature.\\u000a \\u000a \\u000a \\u000a Methods  In all children with short stature (height more than 2 SD below the mean for age and sex) and normal physical examination,\\u000a attending Motahary pediatric clinic in Shiraz, Iran, from 2003 till 2005, work-ups were made to find a cause for

Seyed Mohsen Dehghani; Ali Akbar Asadi-Pooya

2008-01-01

206

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

PubMed

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

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

2011-12-22

207

Objective evaluation of muscle strength in infants with hypotonia and muscle weakness.  

PubMed

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 infants with Prader-Willi Syndrome (PWS) aged 24 months. The inter-rater reliability of the measurement method was good (ICC=.84) and the convergent validity was confirmed by high Pearson's correlations between muscle strength, age, height, and weight (r=.79-.85). A multiple linear regression model was developed to predict muscle strength based on age, height, and weight, explaining 73% of the variance in muscle strength. In infants with PWS, muscle strength was significantly decreased. Pearson's correlations showed that infants with PWS in which muscle strength was more severely affected also had a larger motor developmental delay (r=.75). PMID:23380578

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

2013-02-01

208

Estimation of stature from static and dynamic footprints.  

PubMed

The ability to estimate accurately from known parameters is a fundamental aspect of science and is evident as an emerging approach in the area of footprints and stature estimation within the field of forensic identification. There are numerous foot dimensions that have been measured in the literature to predict stature with varying degrees of confidence but few studies have tried to link the strength of estimation to anatomical landmarks. Such an approach is utilised in this study which estimates stature from the right footprints of sixty one adult male and female UK participants. Static and dynamic footprints were taken from each volunteer using the 'inkless paper system'. The prints were digitised and twelve length, width and angle measurements were chosen for the analysis. The highest correlations with stature were shown to be the heel to fourth toe print for the static group of footprints (r=0.786, p<0.01), and the heel to fifth toe print in the dynamic footprints (r=0.858, p<0.01). Collinearity statistics suggest the heel to fifth toe print length measurement is independent and not influenced by any other variables in the estimation of stature for the dynamic prints. Linear regression equations for this measurement presented the smallest standard error of estimate (SEE) and highest shared variance (R(2)) of all included variables (SEE 4.16, R(2) 0.74). Our study discusses a potential anatomical explanation as to why the lateral border of the foot and hence the impression it makes upon a hard surface, is a more stable indicator in the estimation of stature. The investigation recommends the use of Calc_A4 and Calc_A5 length measurements when estimating stature from footprint impressions. PMID:22154435

Reel, Sarah; Rouse, Simon; Vernon, Wesley; Doherty, Patrick

2011-12-09

209

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

SciTech Connect

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

Thompson, D.B.; Ossowski, V.; Janssen, R.C.; Knowler, W.C.; Bogardus, C. [National Inst. of Health, Phoenix, AZ (United States)

1995-12-04

210

Endoscopic findings in children with obstructive sleep apnea: effects of age and hypotonia.  

PubMed

Obstructive sleep apnea (OSA) syndrome is a common disorder among children and is often associated with significant morbidity. The causes of OSA are related to either fixed upper airway abnormalities such as adenotonsillar hypertrophy, or dynamic airway abnormalities such as laryngomalacia and pharyngeal wall collapse. The aim of the present study was to determine the prevalence of dynamic upper airway abnormalities, based on endoscopic findings, in normotonic and hypotonic children with polysomnographically documented OSA. The records of 39 consecutive children with OSA who underwent bronchoscopy (22 with normal tone, and 17 with hypotonia) were reviewed. The prevalence of dynamic defects among children with normal tone decreased with age. All 7 patients less than 1 year old had dynamic abnormalities (isolated or combined fixed/dynamic), compared to only 66% (6/9) of patients between 1-2 years old, and 17% (1/6) of children more than 2 years old. In contrast, dynamic abnormalities were very common among hypotonic children, independent of age. Since children with dynamic defects are less likely to respond to surgical treatments, it would be appropriate to identify these children prior to any intervention. Due to the higher frequency of dynamic defects in both infants (< 1 year) and hypotonic children, it may be appropriate to include endoscopy as part of the diagnostic evaluation of OSA in these subgroups. PMID:15957182

Goldberg, Shmuel; Shatz, Anat; Picard, Elie; Wexler, Isaiah; Schwartz, Shepard; Swed, Edwina; Zilber, Lidia; Kerem, Eitan

2005-09-01

211

A Novel Monocarboxylate Transporter 8 Gene Mutation as a Cause of Severe Neonatal Hypotonia and Developmental Delay  

Microsoft Academic Search

Monocarboxylate transporter 8 acts as a specific cell membrane transporter for thyroxine and especially triiodothy- ronine into target cells. It is expressed in brain neurons and in many other tissues. The monocarboxylate transporter 8 gene resides on chromosome Xq13.2. An 11-month-old male infant was referred because of severe hypotonia from early life and global developmental delay. Thyroid-function tests showed normal

Anastasios Papadimitriou; Alexandra Mihaela Dumitrescu; Antigone Papavasiliou; Andreas Fretzayas; Polyxeni Nicolaidou; Samuel Refetoff

2010-01-01

212

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

Microsoft Academic Search

A 4-year-old patient is described with hyperphenylalaninemia, severe retardation in development, severe muscular hypotonia of the trunk and hypertonia of the extremities, convulsions, and frequent episodes of hyperthermia without infections. Urinary excretion of neopterin, biopterin, pterin, isoxanthopterin, dopamine, and serotonin was very low, although the relative proportions of pterins were normal. In lumbar cerebrospinal fluid, homovanillic acid, 5-hydroxy-indoleacetic acid, neopterin

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

1984-01-01

213

Stature, Age, and Gender Effects on Reach Motion Postures  

Microsoft Academic Search

The rapid adoption of software to simulate human reach motions in the design of vehicle interiors and manufacturing and office workstations has required a sophisticated understanding of human motions. This paper describes how more than 3000 right-arm reaching motions of a diverse group of participants were captured and statistically modeled. The results demonstrate that stature and age have a larger

Don B. Chaffin; Julian J. Faraway; Xudong Zhang; Charles Woolley

2000-01-01

214

Estimation of Stature from the Maximum Metacarpal Lengths of the Ancient Maya  

Microsoft Academic Search

Estimation of stature is an important part of an archaeological analysis of skeletal remains. Stature provides insight into various factors of a population, including nutrition, health, and genetics. Due to poor preservation in the Maya Lowlands, it is rare to find intact measurable long bones for which stature estimation equations exist. In an effort to increase the recovery of quantifiable

Britta M. Grieshaber; James Theler

215

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

Microsoft Academic Search

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

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

2005-01-01

216

Evolutionary trends of stature in upper Paleolithic and Mesolithic Europe.  

PubMed

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

Formicola, V; Giannecchini, M

1999-03-01

217

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

PubMed

Down syndrome (DS), the principal cause for intellectual disability, is also associated with hormonal, immunological, and gastrointestinal abnormalities. Muscle hypotonia (MH) and congenital heart diseases (CHD) are also frequently observed. Collagen molecules are essential components for maintaining muscle integrity and are formed by the assembly of three chains, alpha 1-3. The type VI collagen is crucial for cardiac as well as skeletal muscles. The COL ?1 (VI) and ?2 (VI) chains are encoded by genes located at the 21st chromosome and are expected to have higher dosage in individuals with DS. The ? 3 (VI) chain is encoded by the COL6A3 located at the chromosome 2. We hypothesized that apart from COL6A1 and COL6A2, COL6A3 may also have some role in the MH of subjects with DS. To find out the relevance of COL6A3 in DS associated MH and CHD, we genotyped two SNPs in COL6A3, rs2270669 and rs2270668, in individuals with DS. Subjects with DS were recruited based on the Diagnostic and Statistical Manual for Mental Disorders-IV and having trisomy of the 21st chromosome. Parents of individuals with DS and ethnically matched controls were enrolled for comparison. Informed written consent was obtained for participation. Peripheral blood was used for isolation of genomic DNA. Target genetic loci were studied by DNA sequence analysis. Data obtained was subjected to population - as well as family-based statistical analysis. rs2270668 was found to be non-polymorphic in the studied population. rs2270669 showed significant association of the "C" allele and "CC" genotype with DS probands having MH (P?=?0.02). Computational analysis showed that rs2270669 may induce structural and functional alterations in the COL ?3 (VI). Interaction of COL?3 (VI) with different proteins, crucial for muscle integrity, was also noticed by computational methods. This pioneering study on COL6A3 with DS related MH thus indicates that rs2270669 "C" could be considered as a risk factor for DS related MH. PMID:23626599

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

2013-04-22

218

Estimation of stature using fragmentary femora in indigenous South Africans  

Microsoft Academic Search

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

Mubarak Ariyo Bidmos

2008-01-01

219

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

PubMed

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

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

2013-09-26

220

The influence of different unloading positions upon stature recovery and paraspinal muscle activity  

Microsoft Academic Search

Objective. To determine whether stature recovery and paraspinal muscle activity can be altered in individuals with and without chronic low-back pain by assuming different unloading positions.Design. A case-control study considering the effects of unloading position on stature recovery in individuals with and without chronic low-back pain.Background. Stature recovery has been documented to be lower in individuals with chronic low-back pain.

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

2005-01-01

221

An Ethics Primer: A Few Short Ethics Cases  

NSDL National Science Digital Library

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

2008-01-01

222

Estimation of stature from index and ring finger length in a North Indian adolescent population.  

PubMed

The identification of commingled mutilated remains is a challenge to forensic experts and hence, a need of studies on estimation of stature from various body parts in different population groups. Such studies can help in narrowing down the pool of possible victim matches in cases of identification from dismembered remains. Studies pertaining to stature estimation among adolescents are limited owing to the ongoing growth process and growth spurt during adolescent period. In view of the limited literature on the estimation of stature in adolescent group, the present preliminary research was taken up to report the correlation between index and ring finger length and stature in a North Indian adolescent population. Three anthropometric measurements; Stature, Index finger length (IFL) and ring finger length (RFL) were taken on the subjects included in the study. Mean stature, IFL and RFL were significantly larger in males than females. Statistically significant correlation was observed between stature, IFL and RFL in right and left hands. Pearson correlation (r) was higher among males than females. Among males and females correlation coefficient was higher for the IFL than the RFL. The present research derives the linear regression models and multiplication factors for estimating stature from IFL and RFL and concludes that the living stature can be predicted from the IFL and RFL with a reasonable accuracy in adolescent population of North India. PMID:22687770

Krishan, Kewal; Kanchan, Tanuj; Asha, Ningthoukhongjam

2012-01-14

223

Stature loss and recovery following a period of loading: Effect of time of day and presence or absence of low back pain  

Microsoft Academic Search

BackgroundStature reductions in asymptomatic individuals, caused by a set load, are lower later in the day when stature is in the trough of diurnal variation; hence most stature reduction investigations are conducted in the morning. Recent evidence suggests that it is not the reductions in stature, but the recovery of stature, that is of greatest importance. The aim of this

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

2008-01-01

224

Relationship between sitting-height-to-stature ratio and adiposity in Brazilian women.  

PubMed

Inadequate anthropometric dimensions, such as short leg length or high sitting-height-to-stature ratio (SHSR) in adults, can be considered indices of adverse environmental conditions in early life. Our objective was to describe the association between SHSR, a variable of prepubertal environment, and levels of adiposity in a group of Brazilian women. Six hundred and sixty-nine women aged 20-55 years were studied through a cross-sectional design. Detailed anthropometric measurements were obtained according to standardized procedures. Body mass index (BMI) > or = 30 kg/m2, percent body fat (% BF) measured through bioelectrical impedance >30, and the third tertile of six skinfold sums (SKF sum) were treated as dependent variables. High SHSR was defined as values > or = mean + 1 SD. Data analysis was performed using nonconditional hierarchical multivariate logistic regression, estimating adjusted odds ratios (OR) and 95% confidence intervals (95% CI) for the three dependent variables. Thirty-two percent of women who had high SHSR had low stature, compared with 13.8% in the group with normal SHSR (P < 0.000). After adjustment for age, schooling, total family income, parity, and age of menarche, high SHSR was still associated with BMI > or = 30 kg/m2 (OR, 2.46; 95% CI, 1.31-4.60), % BF >30 (OR, 2.07; 95% CI, 1.11-3.61), and SKF sum (OR, 2.11; 95% CI, 1.33-3.35). These results support the hypothesis that high SHSR, a variable of prepubertal adverse environmental conditions, is independently associated with adiposity in this group of Brazilian women. Responsible factors for high SHSR, other than genetics, should be investigated. PMID:16136531

Velásquez-Meléndez, Gustavo; Silveira, Erika Aparecida; Allencastro-Souza, Priscilla; Kac, Gilberto

225

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

PubMed

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

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

2010-05-19

226

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

PubMed Central

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

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

2010-01-01

227

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

PubMed Central

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

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

1994-01-01

228

Evaluation of limb measurements for predicting stature in men ? 60 years of age  

Microsoft Academic Search

Stature is often difficult to determine among elderly subjects due to postural changes, contractures, osteoporosis, etc. Formulae have been developed to estimate stature from knee height. However, knee height measurements are difficult to perform in some patients, such as those with paralysis, amputation, or the acutely ill. Subjects for this pilot study included 100 male inpatients (85 white, 15 black)

M. D. Rosen; S. Foley; K. C. Maki; M. Cannon; Edward Mines

1995-01-01

229

Estimation of stature from cephalo-facial dimensions by regression analysis in Indo-Mauritian population  

Microsoft Academic Search

Determination of stature from fragmented human remains is vital part of forensic investigation for the purpose of identification. The present study was aimed to modelling the stature both for male and female separately on the basis of craniofacial dimensions. The study was conducted on 150 young and healthy students (75 males and 75 females) in the age group ranging from

Arun Kumar Agnihotri; Smita Kachhwaha; Krishna Googoolye; Anishta Allock

2011-01-01

230

Determination of sex by discriminant function analysis and stature by regression analysis: a lateral cephalometric study  

Microsoft Academic Search

Determination of sex and estimation of stature from the skeleton is vital to medicolegal investigations. In the present study, an attempt is made to determine sex and estimate stature of an individual using data derived from lateral cephalogram in Central Indian population. Skull is composed of hard tissue and is the best preserved part of skeleton after death, hence, in

Kanchan R. Patil; Rajendra N. Mody

2005-01-01

231

The Relationship Between Stature and the Prevalence of Atrial Fibrillation in Patients With Left Ventricular Dysfunction  

Microsoft Academic Search

OBJECTIVES This study sought to determine the influence of stature on atrial fibrillation (AF) in high-risk patients with reduced left ventricular (LV) systolic function. BACKGROUND Left atrial (LA) enlargement is a potent risk factor for AF. Because LA size is strongly associated with stature, we hypothesized that height and body surface area (BSA) are risk factors for AF, independent of

Ibrahim R. Hanna; Brian Heeke; Heather Bush; Lynne Brosius; Diane King-Hageman; John F. Beshai; Jonathan J. Langberg

2006-01-01

232

Regression analysis for stature estimation from foot anthropometry in Malaysian Chinese  

Microsoft Academic Search

Dismembered human remains are frequently found in cases of mass disasters and criminal mutilation. It is therefore of interest to use foot dimensions for the determination of stature of an individual in order to assist in establishing personal identity. This is the first systematic study conducted for the estimation of stature from foot measurements in the Malaysian Chinese. In this

Salina Hisham; Che Rozid Mamat; Mohamad Azaini Ibrahim

2012-01-01

233

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

Microsoft Academic Search

Researchers 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

Samantha M. Hens; Lyle W. Konigsberg; William L. Jungers

2000-01-01

234

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

Microsoft Academic Search

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

Kewal Krishan; Raj Kumar

2007-01-01

235

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

Microsoft Academic Search

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

Scott Alan Carson

2009-01-01

236

Effects of target location, stature and hand grip type on in-vehicle reach discomfort  

Microsoft Academic Search

In order to improve car interior design, data of perceived discomfort and reach posture were collected for 75 different target locations. Altogether, 24 males and females of different statures participated in the experiment. In addition to three-finger grip, index fingertip reach and five finger grip were also compared. The effects of target location, stature and hand grip on reach discomfort

Xuguang Wang; Jules Trasbot

2011-01-01

237

Adult stature reconstruction from the calcaneus of South Africans of European descent  

Microsoft Academic Search

The reconstruction of adult stature from length of limb bones is not a new concept. Population specific regression equations for stature estimation have been derived from these bones in most part of the world. Due to increased violence in major cities of the world resulting in dismemberment of the human body and skeleton, there was a need for derivation of

Mubarak Bidmos

2006-01-01

238

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

Microsoft Academic Search

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

Kewal Krishan; Abhilasha Sharma

2007-01-01

239

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

Microsoft Academic Search

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

Anders Gustafsson; Patrik Lindenfors

2004-01-01

240

Stature estimation from scapular measurements by CT scan evaluation in an Italian population.  

PubMed

This study evaluated the correlation between scapula size and stature and developed standard equations in order to estimate stature by CT scan evaluation. A total of 200 healthy Italian subjects (100 men and 100 women, mean age 64.2±12.8years) underwent thoracic CT scan evaluation during pulmonary screening in our department; we measured the stature of each patient with standard anthropometric instruments and then analyzed images to calculate the longitudinal scapular length (LSL) and the transverse scapular length (TSL). The correlation between stature and each parameter measured was analyzed by dividing the population into two groups, males and females, and was examined by simple regression analysis using Pearson's correlation coefficient (r). Each anthropometric variable showed a significant difference between males and females (p value <0.001). The correlation coefficients (r-values) were LSL=0.74 and TSL=0.51 in males and LSL=0.70 and TSL=0.48 in females. In both sexes the r-values showed a significant correlation between stature and LSL. Our study demonstrates that scapulae can be used for stature estimation; in our sample LSL was found to have a better correlation with stature then TSL. hm=4.247*LSL+93.74 and hf=4.031*LSL+92.38 are the formulae that provide the most accurate stature assessment in males and females respectively. PMID:23485524

Giurazza, Francesco; Del Vescovo, Riccardo; Schena, Emilano; Cazzato, Roberto Luigi; D'Agostino, Francesco; Grasso, Rosario Francesco; Silvestri, Sergio; Zobel, Bruno Beomonte

2013-02-26

241

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

ERIC Educational Resources Information Center

|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…

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

2011-01-01

242

A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect  

Microsoft Academic Search

The clinical features of Angelman syndrome (AS) comprise severe mental retardation, postnatal microcephaly, macrostomia and prognathia, absence of speech, ataxia, and a happy disposition. We report on seven patients who lack most of these features, but presented with obesity, muscular hypotonia and mild mental retardation. Based on the latter findings, the patients were initially suspected of having Prader-Willi syndrome. DNA

Gabriele Gillessen-Kaesbach; Stephanie Demuth; Hannelore Thiele; Ursel Theile; Christina Lich; Bernhard Horsthemke

1999-01-01

243

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

PubMed

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). PMID:17306595

Krishan, Kewal; Kumar, Raj

2007-02-15

244

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

PubMed

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

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

2005-01-01

245

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

Microsoft Academic Search

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

Masato Nakatsukasa; Martin Pickford; Naoko Egi; Brigitte Senut

2007-01-01

246

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

PubMed

Estimation of stature from isolated body parts is especially important to forensic scientists and anthropologists. The aims of this study were, to evaluate the accuracy of inter-anterior superior iliac spinous distance in determining stature of an individual as compared to foot length, and to note sex differences in the above mentioned parameters. One hundred normal healthy adult subjects from South India consisting of 50 males and 50 females were studied. The height, interspinous distance, and foot length of the subjects were measured. The mean and standard deviation of the height, interspinous distance, foot length and proportions of interspinous distance and foot length to height were calculated and significance testing done for sex differences. The correlation between stature and interspinous distance and stature and foot length was estimated, and linear regression equations for stature estimation were calculated. The height, interspinous distance and foot length were significantly greater in males. The proportion of interspinous distance to stature was significantly greater in females. Foot length showed a stronger positive correlation with stature compared to interspinous distance. When the sexes were considered separately the accuracy of stature estimation from interspinous distance increased greatly. Though interspinous distance is not as reliable as foot length in stature estimation, it could provide valuable data regarding the stature when isolated pelvises are available. PMID:20650428

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

2010-06-09

247

PHOG, a candidate gene for involvement in the short stature of Turner syndrome  

Microsoft Academic Search

DDBJ\\/EMBL\\/GenBank accession no. U89331 The abnormalities seen in Turner syndrome (mono- somy X) presumably result from haploinsufficiency of certain genes on the X chromosome. Gene dosage considerations lead to the prediction that the culpable genes escape X inactivation and have functional ho- mologs on the Y chromosome. Among the genes with these characteristics are those residing in the pseu- doautosomal

Jay W. Ellison; Zabihullah Wardak; Marian F. Young; Pamela Gehron Robey; Marion Laig-Webster; Winston Chiong

1997-01-01

248

Short stature as an effect of economic and social conditions in childhood  

Microsoft Academic Search

Only a few studies on the effect of environmental factors on height are based on adults and none. that we could find, relates adult height to both economic and psycho-social conditions in childhood. The aim of this study is to investigate whether four indicators of economic and psycho-social conditions during childhood are related to a variation in adult height and

Maria Nyström Peck; Olle Lundberg

1995-01-01

249

Cardiomyopathy and short stature associated with mitochondrial and/or lipid storage myopathy of skeletal muscle.  

PubMed

The patient described in this report was an 11-year-old girl with a negligible heart murmur. The length was below 10th percentile. There appeared to be a cardiomyopathy with, at that moment, no signs of obstruction. There were no evident clinical symptoms of myopathy of skeletal muscle. However, electromyography was myopathic. Biochemical studies revealed no abnormalities. In muscle biopsy sections, the Sudan staining reactions revealed the presence of large amounts of sudanophilic droplets, predominantly in type I fibers. Electronmicroscopy demonstrated lipid excess and accumulations of enlarged, mostly rounded mitochondria in a subsarcolemmal location, with closely packed cristae. In many mitochondria a dense osmiophilic material was present in the spaces between the cristal membranes. The patient's parents were first cousins. One of her brothers who died at the age of 4 1/2 years presumably suffered from the same disease. The pattern of inheritance is most probably autosomal recessive. PMID:134294

Sengers, R C; Stadhouders, A M; Jaspar, H H; Trijbels, J M; Daniels, O

1976-05-01

250

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

PubMed

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

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

2013-04-06

251

Partial monosomy 3q in a boy with short stature, developmental delay, and mild dysmorphic features  

Microsoft Academic Search

We describe the clinical and cytogenetic findings in a boy with an unbalanced karyotype involving monosomy for 3q27-q29. He does not resemble other reported cases of del(3q). Deletions of the long arm of chromosome 3 are extremely rare, having been reported in five cases, only two of which had terminal 3q deletions.

L A Brueton; J C Barber; S M Huson; R M Winter

1989-01-01

252

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

Microsoft Academic Search

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

John D. Mahan; Bradley A. Warady

2006-01-01

253

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

Microsoft Academic Search

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

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

2006-01-01

254

A Comparison of Different Definitions of Growth Response in Short Prepubertal Children Treated with Growth Hormone  

Microsoft Academic Search

Background: How to define poor growth response in the management of short growth hormone (GH)-treated children is controversial. Aim: Assess various criteria of poor response. Subjects and Methods: Short GH-treated prepubertal children [n = 456; height (Ht) SD score (SDS) ?–2] with idiopathic GH deficiency (IGHD, n = 173), idiopathic short stature (ISS, n = 37), small for gestational age

P. Bang; R. Bjerknes; J. Dahlgren; L. Dunkel; J. Gustafsson; A. Juul; B. Kriström; P. Tapanainen; V. Åberg

2011-01-01

255

Congenital hypotonia revisited.  

PubMed

The definition of neuromuscular diseases affecting infants has depended on factors as various as the rate of progression of the illness, the clinical picture, and, recently, the morphologic peculiarities in the muscle biopsy. A review of the literature suggests that there are discrepancies in the classification of such illnesses, no matter what system is used. In some instances, a single diagnosis seems to include patients with quite separate illnesses, whereas other patients with seemingly identical diseases have been given different diagnoses. PMID:397413

Brooke, M H; Carroll, J E; Ringel, S P

256

Childhood stature and adult cancer risk: the Boyd Orr cohort.  

PubMed

Cancer risk in adulthood may be influenced by aspects of childhood diet. In the absence of direct dietary data, indirect measures of childhood diet and nutritional status, such as anthropometric measurements, may be useful in investigating diet-cancer associations. Previous studies suggest that taller adults may have increased cancer risk. Peak growth for different anthropometric measures occurs at different times and so differential associations with cancer risk may indicate periods of development that are particularly important in determining future risk. 2,642 traced members of the Boyd Orr cohort had measures of foot length, shoulder breadth, height, and leg length made when they were aged 2-14 years; trunk length was derived from the difference between overall height and leg length. Subjects were followed-up over 59 years to determine all-cause (n = 547) and site-specific (n = 97 for lung, 69 breast, 59 colorectal, 33 prostate, 320 not related to smoking) cancer deaths and registrations. There were no strong associations between childhood anthropometric measurements and adult cancer risk. Odds ratios (ORs) were broadly consistent with a slight increase in risk with increasing childhood stature but no single measure was of particular importance. The strongest associations were seen for breast cancer (OR per standard deviation increase in foot length: 1.16 (95% CI: 0.90, 1.51), shoulder breadth: 1.16 (0.91, 1.49) and trunk: 1.26 (1.00, 1.60), and prostate cancer (OR for foot length: 1.22 (0.86, 1.75)). There was little effect of adjustment for confounding factors and very limited evidence that associations differed with measures made prior to the onset of puberty (comparing the associations in children aged <8 vs. 8+ years). There was no evidence that any of the five indicators of childhood growth was more strongly related to cancer risk than the other measures. PMID:18855108

Whitley, Elise; Martin, Richard M; Smith, George Davey; Holly, Jeff M P; Gunnell, David

2008-10-15

257

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

PubMed Central

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

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

2012-01-01

258

46, XY pure gonadal dysgenesis: a case with Graves' disease and exceptionally tall stature.  

PubMed

A case of 46, XY pure gonadal dysgenesis with very tall stature was investigated. The 24-year-old, phenotypically female patient consulted our clinic because of linear growth persisting into adulthood. The patient was found to have no mutation or deletion of a sex-determining region of the Y chromosome, and also was found to have Graves' disease. Growth was arrested with height remaining at 187 cm after normalization of the thyroid function by treatment with an antithyroid agent, although follow-up to monitor growth was limited to 3 months. In some cases of gonadal dysgenesis, then, Graves' disease may contribute to an abnormally tall stature. PMID:11518114

Kawamura, M; Owada, M; Kimura, Y; Fujiwara, T; Sasaki, A; Tajima, T; Fujieda, K; Hiramori, K

2001-08-01

259

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

Microsoft Academic Search

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

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

2010-01-01

260

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

Microsoft Academic Search

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

Tsutomu Ogata; Nobutake Matsuo

1993-01-01

261

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

Microsoft Academic Search

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

Osman Celbis; Hasan Agritmis

2006-01-01

262

Estimation of stature from foot length and foot breadth among the Rajbanshi: An indigenous population of North Bengal  

Microsoft Academic Search

In forensic anthropology, estimation of stature from feet dimensions plays a significant role in establishing personal identity. There is a scarcity of literature on the estimation of stature from foot length and foot breadth among various Indian populations, including the indigenous populations found in the northern part of the state of West Bengal, India. The Rajbanshis and the Meches are

Jaydip Sen; Shila Ghosh

2008-01-01

263

Beauty, Stature and the Labour Market: A British Cohort Study  

Microsoft Academic Search

The influence of physical appearance in the labour market is examined using longitudinal cohort data covering 11,407 individual born in Britain in 1958. Results show that physical appearance has a substantial effect on earnings and employment patterns for both men and women. Irrespective of gender, those who are assessed as unattractive or short, experience a significant earnings penalty. Tall men

Barry Harper

2000-01-01

264

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

PubMed Central

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

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

2009-01-01

265

Sex determination and estimation of stature from the long bones of the arm  

Microsoft Academic Search

The determination of sex and the estimation of stature from bones play an important role in identifying unknown bodies, parts of bodies or skeletal remains. In medico-legal practice statements on the probable sex of a decomposed body or part of a body are often expected even during autopsy. The present study was, therefore, restricted to few easily accessible dimensions from

G Mall; M Hubig; A Büttner; J Kuznik; R Penning; M Graw

2001-01-01

266

The association of grandmaternal and maternal factors with maternal adult stature  

Microsoft Academic Search

Methods The study base was derived from a population-based intergenerational cohort which linked several statewide databases to data from the mothers' own birth certificates: the Washington State Intergenerational Cohort. Mothers in these ethnic groups were separately studied: non-Hispanic Whites, African Americans, Native Americans, Hispanics. We generated simple, partial, and multiple correlation coefficients to investigate the association between stature and other

Irvin Emanuel; Christy Kimpo; Victoria Moceri

2004-01-01

267

Architecture of 53 rain forest tree species differing in adult stature and shade tolerance  

Microsoft Academic Search

Tree architecture determines a tree's light capture, stability, and efficiency of crown growth. The hypothesis that light demand and adult stature of tree species within a community, independently of each other, determine species' architectural traits was tested by comparing 53 Liberian rain forest tree species. We evaluated whether species differed in their tree height, crown depth, and crown diameter, when

Lourens Poorter; F. J. J. M. Bongers; Frank J. Sterck; Hannsjörg Wöll

2003-01-01

268

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

National Technical Information Service (NTIS)

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

B. Shender P. Heffner

1999-01-01

269

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

National Technical Information Service (NTIS)

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

B. Shender

1999-01-01

270

Dynamic Strength Capabilities of Small Stature Females to Perform High Performance Flight Tasks.  

National Technical Information Service (NTIS)

NAWOAD investigated the abilities of small stature females (=/< 120 lb) to fly under G-stress using the Dynamic Flight Simulator (DFS) and its tactical fight/attack cockpit, displays and controls. The objective was to determine if these individuals posses...

B. Shender P. Heffner

1999-01-01

271

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

PubMed

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

Mather, George

2010-01-01

272

Salt spray and edaphic factors maintain dwarf stature and community composition in coastal sandplain heathlands  

Microsoft Academic Search

North American coastal sandplain heathlands are unique in species composition and vegetation, but the extent to which edaphic factors influence the structure of these communities is currently debated. It was hypothesized that salt spray and edaphic factors maintain the dwarf stature and community composition of heathlands by limiting plant growth and excluding competitively dominant woody species close to the ocean.

Megan E. Griffiths

2006-01-01

273

Human fertility variation, size-related obstetrical performance and the evolution of sexual stature dimorphism  

Microsoft Academic Search

In several animal species, change in sexual size dimorphism is a correlated response to selection on fecundity. In humans, di¡ erent hypotheses have been proposed to explain the variation of sexual dimorphism in stature, but no consensus has yet emerged. In this paper, we evaluate from a theoretical and an empiricalpoint of view the hypothesis that the extent of sexual

J.-F. Guegan; A. T. Teriokhin; F. Thomas

2000-01-01

274

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

Microsoft Academic Search

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

SCOTT ALAN CARSON

2010-01-01

275

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

PubMed

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. PMID:22183641

Pomeroy, Emma; Stock, Jay T

2011-12-20

276

Update on statural growth and pubertal development in obese children  

PubMed Central

Childhood obesity is a growing and alarming problem, associated with several short-term and long-term metabolic and cardiovascular complications. In addition, it has also been suggested that excess adiposity during childhood influences growth and pubertal development. Several studies have shown that during pre-pubertal years, obese patients present higher growth velocity and that this pre-pubertal advantage tends to gradually decrease during puberty, leading to similar final heights between obese and non-obese children. Excess body weight might also influence pubertal onset, leading to earlier timing of puberty in girls. In addition, obese girls are at increased risk of hyperandrogenism and polycystic ovary syndrome. In boys, a clear evidence does not exist: some studies suggesting an earlier puberty associated with the obesity status, whereas other have found a delayed pubertal onset. Overall, the existing evidence of an association between obesity and modification of growth and pubertal patterns underlines a further reason for fighting the epidemics of childhood obesity.

Leonibus, Chiara De; Marcovecchio, M. Loredana; Chiarelli, Francesco

2012-01-01

277

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

PubMed

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

Geissmann, T

1986-01-01

278

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

Microsoft Academic Search

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

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

2003-01-01

279

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

Microsoft Academic Search

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

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

2009-01-01

280

Relationship between stature, overweight and central obesity in the adult population in São Paulo, Brazil  

Microsoft Academic Search

OBJECTIVE: To test association between overweight, central obesity and stature.DESIGN: Cross-sectional study carried-out between 1990–1991.SUBJECTS: 951 adults (387 male and 564 female) aged 20–64 y, resident in the metropolitan area of São Paulo, Brazil.MEASUREMENTS: Anthropometry, blood lipid concentrations (total, high density lipoprotein (HDL) and low density lipoprotein (LDL)-cholesterol, triglycerides (TGs) and blood glucose. Body mass index (BMI), waist-to-hip ratio (WHR)

G Velásquez-Meléndez; AM Cervato; NS Fornés; M de FN Marucci; LT Coelho

1999-01-01

281

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

PubMed Central

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

2011-01-01

282

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

PubMed

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

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

2011-04-01

283

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

ERIC Educational Resources Information Center

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

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

2009-01-01

284

SnoRNA Snord116 (Pwcr1\\/MBII-85) Deletion Causes Growth Deficiency and Hyperphagia in Mice  

Microsoft Academic Search

Prader-Willi syndrome (PWS) is the leading genetic cause of obesity. After initial severe hypotonia, PWS children become hyperphagic and morbidly obese, if intake is not restricted. Short stature with abnormal growth hormone secretion, hypogonadism, cognitive impairment, anxiety and behavior problems are other features. PWS is caused by lack of expression of imprinted genes in a ?4 mb region of chromosome

Feng Ding; Hong Hua Li; Shengwen Zhang; Nicola M. Solomon; Sally A. Camper; Pinchas Cohen; Uta Francke; Schahram Akbarian

2008-01-01

285

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

ERIC Educational Resources Information Center

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

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

2005-01-01

286

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

ERIC Educational Resources Information Center

|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…

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

2007-01-01

287

Growth Hormone Therapy for Short Children Born Small for Gestational Age  

Microsoft Academic Search

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

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

2007-01-01

288

Combined Genome Scans for Body Stature in 6,602 European Twins: Evidence for Common Caucasian Loci  

PubMed Central

Twin cohorts provide a unique advantage for investigations of the role of genetics and environment in the etiology of variation in common complex traits by reducing the variance due to environment, age, and cohort differences. The GenomEUtwin (http://www.genomeutwin.org) consortium consists of eight twin cohorts (Australian, Danish, Dutch, Finnish, Italian, Norwegian, Swedish, and United Kingdom) with the total resource of hundreds of thousands of twin pairs. We performed quantitative trait locus (QTL) analysis of one of the most heritable human complex traits, adult stature (body height) using genome-wide scans performed for 3,817 families (8,450 individuals) derived from twin cohorts from Australia, Denmark, Finland, Netherlands, Sweden, and United Kingdom with an approximate ten-centimorgan microsatellite marker map. The marker maps for different studies differed and they were combined and related to the sequence positions using software developed by us, which is publicly available (https://apps.bioinfo.helsinki.fi/software/cartographer.aspx). Variance component linkage analysis was performed with age, sex, and country of origin as covariates. The covariate adjusted heritability was 81% for stature in the pooled dataset. We found evidence for a major QTL for human stature on 8q21.3 (multipoint logarithm of the odds 3.28), and suggestive evidence for loci on Chromosomes X, 7, and 20. Some evidence of sex heterogeneity was found, however, no obvious female-specific QTLs emerged. Several cohorts contributed to the identified loci, suggesting an evolutionarily old genetic variant having effects on stature in European-based populations. To facilitate the genetic studies of stature we have also set up a website that lists all stature genome scans published and their most significant loci (http://www.genomeutwin.org/stature_gene_map.htm).

Perola, Markus; Sammalisto, Sampo; Hiekkalinna, Tero; Martin, Nick G; Visscher, Peter M; Montgomery, Grant W; Benyamin, Beben; Harris, Jennifer R; Boomsma, Dorret; Willemsen, Gonneke; Hottenga, Jouke-Jan; Christensen, Kaare; Kyvik, Kirsten Ohm; S?rensen, Thorkild I. A; Pedersen, Nancy L; Magnusson, Patrik K. E; Spector, Tim D; Widen, Elisabeth; Silventoinen, Karri; Kaprio, Jaakko; Palotie, Aarno; Peltonen, Leena

2007-01-01

289

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

PubMed

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

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

2013-08-13

290

Inequality in Japan (1892-1941): physical stature, income, and health.  

PubMed

This paper investigates the relationship between physical stature, per capita income, health, and regional inequality in Japan at the prefecture-level for the period 1892-1941. The analysis shows that inequality in income and access to health services explains differences in average height of the population across the 47 Japanese prefectures during this period and that variation in income contributed to changes in height during the 1930s. Annual regional time series of height indicate that Japan experienced a regional convergence in biological welfare before 1914, and that a divergence occurred during the interwar period; personal inequality followed a similar pattern. PMID:16371256

Bassino, Jean-Pascal

2005-12-20

291

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

PubMed

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

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

2006-08-01

292

Secular trend and regional differences in the stature of Italians, 1854-1980.  

PubMed

We present 127 years of data on the physical stature of military conscripts born in Italy during 1854-1980, as well as an analysis of regional variations in height (for birth cohorts born during 1927-1980). The height of young men has increased in all regions of Italy. The secular trend and the regional changes in stature are correlated with economic growth and a general improvement of living conditions. This is suggested by the relationship between height and various socio-economic indicators. A comparison of the 1927 birth cohort with the 1980 birth cohort shows that the mean heights for populations in Italy's southern areas, which were shorter than the national average in 1927, underwent the largest increases. In recent years, mean height has been gradually approaching an upper bound for all regions in Italy, with the exception of some central and southern regions. A multiple regression analysis evaluates the impact of living conditions on the convergence of regional heights. PMID:16051532

Arcaleni, Emilia

2005-07-26

293

The effects of cyproterone acetate on statural growth in children with precocious puberty.  

PubMed

Forty-four patients (42 f, 2 m) with precocious puberty (31 idiopathic, 1 familial, 7 cerebral, 5 McCune-Albright) were treated with cyproterone acetate for periods of 1-8.75 years in different (P less than 0.05) daily dosages of 117 +/- 6.1 mg/m2 per day (mean +/- SEM, group A, N = 20) and 60.8 +/- 2.42 mg/m2 per day (group B, N = 24). Thirty-three girls had experienced menarche before therapy at a mean age of 4.89 +/- 0.42 years. Treatment was started at a chronologic age of 5.45 +/- 0.33 years in the girls and 5.74 +/- 1.34 years in the boys. At the time of evaluation, 31 of our patients had reached final height. With respect to the effects of treatment on statural growth, the Standard Deviation Scores were retrospectively determined for height, weight, and growth velocity. The initial Bayley-Pinneau height predictions were compared with final height and target height, and the skeletal maturation was studied. There were no significant differences between those parameters in the patients of group A and B or between treated and untreated subjects as far as final height and target height were concerned. It is concluded that cyproterone acetate administered orally at daily doses from 50-150 mg/m2 does not improve statural growth of patients with precocious puberty. PMID:2954358

Sorgo, W; Kiraly, E; Homoki, J; Heinze, E; Teller, W M; Bierich, J R; Moeller, H; Ranke, M B; Butenandt, O; Knorr, D

1987-05-01

294

Stature and adiposity among children in contrasting neighborhoods in the city of Hamilton, Ontario, Canada.  

PubMed

It is hypothesized in this study that body size and shape vary by local area within the North American urban environment. This study tests that hypothesis by comparing stature and adiposity among children (of age 6-10 years) attending elementary schools in three neighborhoods that contrast by socioeconomic status and recent immigrant status. While the whole sample of children (n = 266) has 27.4% of children that can be classified as overweight/obese (> or =85th percentile for body mass index), analysis by socioeconomic status (SES) reveals that there are approximately twice as many children in the overweight/obese category in the two low-SES schools compared to the high-SES school. Further analysis by individual school indicates that the school in the poorest neighborhood has a statistically significantly lower mean height-for-age Z score relative to the most affluent school. It is concluded that the influence of socioeconomic, demographic, and environmental factors on stature and adiposity can be investigated through studies such as this one that consider local area variation. PMID:15849705

Moffat, T; Galloway, T; Latham, J

295

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

PubMed

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

Ward, W Peter

2012-11-01

296

Molecular mechanisms underlying insulin-like growth factor action: How mutations in the GH: IGF axis lead to short stature.  

PubMed

Insulin-like growth factors (IGFs) act via the Type 1 IGF receptor (IGF-1R) to promote growth and development. Recent structural and site-directed mutagenesis studies have provided detailed insight into the mechanism of interaction between the IGFs and the IGF-IR. Studies of the insulin: insulin receptor interaction have provided important additional understanding of the mechanisms underlying the IGF:IGF-1R interaction. The recent crystal structure of the insulin receptor ectodomain showed a folded over conformation accommodating two potential ligand binding pockets. The ligand interacts with the receptor at two different sites within a binding pocket to achieve high affinity binding and activation of the receptor. In this review the effect of mutations in the human IGF1 and IGF-1R genes so for reported are explained in terms of the effect on ligand binding and receptor activation. The severity of patient phenotype can generally be correlated to the effect of the mutation on protein structure and function. PMID:21972777

Forbes, Briony E

2011-06-01

297

Homozygous Mutations in ADAMTS10 and ADAMTS17 Cause Lenticular Myopia, Ectopia Lentis, Glaucoma, Spherophakia, and Short Stature  

PubMed Central

Weill-Marchesani syndrome (WMS) is a well-characterized disorder in which patients develop eye and skeletal abnormalities. Autosomal-recessive and autosomal-dominant forms of WMS are caused by mutations in ADAMTS10 and FBN1 genes, respectively. Here we report on 13 patients from seven unrelated families from the Arabian Peninsula. These patients have a constellation of features that fall within the WMS spectrum and follow an autosomal-recessive mode of inheritance. Individuals who came from two families and met the diagnostic criteria for WMS were each found to have a different homozygous missense mutation in ADAMTS10. Linkage analysis and direct sequencing of candidate genes in another two families and a sporadic case with phenotypes best described as WMS-like led to the identification of three homozygous mutations in the closely related ADAMTS17 gene. Our clinical and genetic findings suggest that ADAMTS17 plays a role in crystalline lens zonules and connective tissue formation and that mutations in ADAMTS17 are sufficient to produce some of the main features typically described in WMS.

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

2009-01-01

298

Familial C/G Translocation in Three Relatives Associated with Severe Mental Retardation, Short Stature, Unusual Dermatoglyphics and Other Malformations  

ERIC Educational Resources Information Center

|Three case studies of patients (relatives) suffering from a chromosomal aberration (translocation between one of the C group chromosomes and one of the G group chromosomes) resulting in severe mental retardation and skin malformations are reported. It was suggested that the anomaly is hereditary in nature (CD)|

Yanagisawa, S.; Hiraoka, K.

1971-01-01

299

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

PubMed Central

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

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

2011-01-01

300

Growth rates and the prevalence and progression of scoliosis in short-statured children on Australian growth hormone treatment programmes  

Microsoft Academic Search

STUDY DESIGN AND AIM: This was a longitudinal chart review of a diverse group (cohort) of patients undergoing HGH (Human Growth Hormone) treatment. Clinical and radiological examinations were performed with the aim to identify the presence and progression of scoliosis. METHODS AND COHORT: 185 patients were recruited and a database incorporating the age at commencement, dose and frequency of growth

Gregory A Day; Ian Bruce McPhee; Jenny Batch; Francis H Tomlinson

2007-01-01

301

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

Microsoft Academic Search

BackgroundMutations in the SHOX gene are responsible for Leri-Weill Dyschondrosteosis, a disorder characterised by mesomelic limb shortening. Recent investigations into regulatory elements surrounding SHOX have shown that deletions of conserved non-coding elements (CNEs) downstream of the SHOX gene produce a phenotype indistinguishable from Leri-Weill Dyschondrosteosis. As this gene is not found in rodents, we used zebrafish as a model to

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

2011-01-01

302

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

Microsoft Academic Search

BACKGROUND: Human height is considered highly heritable and correlated with certain disorders, such as type 2 diabetes and cancer. Despite environmental influences, genetic factors are known to play an important role in stature determination. A number of genetic determinants of adult height have already been established through genome wide association studies. METHODS: To examine 51 single nucleotide polymorphisms (SNPs) corresponding

Jianhua Zhao; Mingyao Li; Jonathan P Bradfield; Haitao Zhang; Frank D Mentch; Kai Wang; Patrick M Sleiman; Cecilia E Kim; Joseph T Glessner; Cuiping Hou; Brendan J Keating; Kelly A Thomas; Maria L Garris; Sandra Deliard; Edward C Frackelton; F George Otieno; Rosetta M Chiavacci; Robert I Berkowitz; Hakon Hakonarson; Struan FA Grant

2010-01-01

303

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

ERIC Educational Resources Information Center

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

Lynn, Richard

2010-01-01

304

Plasticity in leaf traits of 38 tropical tree species in response to light; relationships with light demand and adult stature  

Microsoft Academic Search

1. The sun¿shade acclimation and plasticity of 16 functional leaf traits of 38 tropical tree species were studied in relation to their light demand, maximum adult stature and ontogenetic changes in crown exposure. 2. Species differed significantly in all leaf traits, which explained a large part of the observed variation (average R2 = 0·72). Light had a significant effect on

D. M. A. Rozendaal; V. H. Hurtado; L. Poorter

2006-01-01

305

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

ERIC Educational Resources Information Center

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

Lynn, Richard

2010-01-01

306

The Relationship of Verbal and Nonverbal Behavior to Political Stature: The Political Interviews of Israel's Prime Minister Ariel Sharon  

Microsoft Academic Search

The study presents an innovative model for examining both the relationship between the verbal and nonverbal behavior of a political figure in political interviews and the effects of his\\/her political stature on his\\/her performance. The uniqueness of the model lies in the simultaneous examination of the two channels of communication, the verbal and nonverbal and the definition of their relationship,

Tsfira Grebelsky-Lichtman

2010-01-01

307

Short bones  

MedlinePLUS

Short bones in the human body are often cubelike -- the length, width, and height measurements are all about the same. Short bones include the carpal bones (hands, wrist) and tarsal bones (feet, ankles)

308

SHORT STORY: \\  

Microsoft Academic Search

In teaching short story, there are lots of techniques, methods and approaches. One of these methods, especially for the students at the foreign language departments of universities, is literary approaches. Sometimes by abandoning the traditional ways of teaching short story, a trainer may make use of the literary approaches. Analyzing a short story by means of using one or more

Aysel Ünsal

309

Effects of two types of chairs on stature change and comfort for individuals with healthy and herniated discs  

Microsoft Academic Search

The objective of this study was to determine if stature change and perceived comfort are significantly different for individuals with either healthy or herniated discs when seated in a conventional chair or a sit-stand chair. Sixteen subjects were studied (5 young\\/healthy, 6 old\\/healthy, 5 old\\/herniated). Subjects performed a search task on a computer screen during two 2 h sessions for

DOMINIQUE P. MICHEL; MARTIN G. HELANDER

1994-01-01

310

Flexible Tape is an Appropriate Tool for Knee Height Measurements and Stature Estimations of Developmentally Disabled Adults  

Microsoft Academic Search

Reliability\\/validity study with statistical analysis of repeated measures was performed.Using a Mediform caliper and flexible tape, two knee height measures were taken by two observers in 56 non-ambulatory developmentally disabled adults. The mean of the measurements for each instrument was used to calculate stature. Ideal Body Weight (IBW) and percent IBW (%IBW) were calculated. Subjects were 56 non-ambulatory developmentally disabled

Ranae Rogerson; Margie L. Galligher; Angela Beebe

1998-01-01

311

Comparisons of percentage body fat, body mass index, waist circumference, and waist-stature ratio in adults1-3  

Microsoft Academic Search

Background: Body mass index (BMI), waist circumference (WC), and the waist-stature ratio (WSR) are considered to be possible proxies for adiposity. Objective: The objective was to investigate the relations between BMI, WC, WSR, and percentage body fat (measured by dual-energy X-ray absorptiometry) in adults in a large nationally representative US population sample from the National Health and Nutrition Exami- nation

Katherine M Flegal; John A Shepherd; Anne C Looker; Barry I Graubard; Lori G Borrud; Cynthia L Ogden; Tamara B Harris; James E Everhart; Nathaniel Schenker

312

Facial Indices of North and South Indian Adults: Reliability in Stature Estimation and Sexual Dimorphism  

PubMed Central

Introduction: Anthropological studies have document differences in craniofacial features as well as in body characteristics among different populations. The variations in the facial morphology arise through a differential growth and they help us in distinguishing one person from another. These are controlled by a number of factors which include genetic heritage, climate and environment in which we live. Very few researchers from India have worked on these facial features with respect to population and environment. The present work was undertaken to determine whether facial variations were subjected to sexual dimorphism. In addition, comparison of facial indices was made, in order to determine possible variations between south and north Indian populations. Methods: The sample consisted of 200 individuals, 100 each from north and south Indian regions. Various facial parameters were determined on the basis of international anatomical description and facial indices were calculated. Results: North Indian males and females had highest facial height and upper facial height. Facial width of south Indians was more as compared to that of north Indians in both sexes. Regression equation was calculated to compare the probable height with actual height. Conclusion: All the facial parameters and facial indices were found to be statistically highly significant and they showed inter-regional and gender variations. These indices will be beneficial in facial reconstruction surgeries, maxillofacial surgeries, and in forensic medicine, for estimating the stature and sex of an individual.

LC, Prasanna; S, Bhosale; AS, D'Souza; H, Mamatha; RH, Thomas; KS, Sachin

2013-01-01

313

Estimating adult stature from radiographically determined metatarsal length in a Spanish population.  

PubMed

The ability to determine height in adult life can be crucial in the identification of skeletal remains. Very often, the small bones found among such remains are not only the most numerous, but also the best preserved, a fact which calls for more research into developing methods to estimate height from metatarsals. The aim of this paper is to verify the use of the dimensions of the metatarsals as estimators of adult height in a Spanish population using radiologically determined metatarsal lengths and to propose regression equations and test the formulae for determining adult stature. The present research is based on a study of 228 healthy Caucasoid adults from Galicia (NW Spain). The first and second metatarsals of the left foot were measured by a dorso-plantar X-ray using a digital medical image viewer. The best correlation obtained was with the maximum length of the 1st metatarsal for males. The corresponding regression equation is as follows: S=819.88+12.79 M1. A comparison of our statistical results with those of neighbouring population groups indicates that ours is more accurate. This must be due to the so-called specificity of regression equations in relation to the series on the base from which they were developed. PMID:23312585

Rodríguez, Sonia; Miguéns, Xoán; Rodríguez-Calvo, María S; Febrero-Bande, Manuel; Muñoz-Barús, José I

2013-01-09

314

Suppression of growth hormone by oral glucose in the evaluation of tall stature.  

PubMed

Excess secretion of growth hormone is a rare diagnosis in children or adolescents with tall stature. An oral glucose tolerance test (OGT) with determination of growth hormone is generally recommended to exclude this disorder. In order to test the validity of this approach in pediatric subjects, OGT tests were performed in 126 tall subjects (age: 12.4 +/- 1.8 years; height: 3.1 +/- 0.8 SDS). Nonsuppression was present in 39 subjects, however, anthropometric analysis and follow-up excluded the diagnosis of eosinophilic pituitary adenoma in all patients. The lowest GH concentration was reached 90 min after ingestion of oral glucose, GH rose above baseline at 180 min. Plasma concentrations of glucose and insulin did not differ between suppressors and nonsuppressors. In conclusion, absent suppression of growth hormone by oral glucose is common in tall children and adolescents. The test is therefore not recommended as a general screening for excess growth hormone. Prolonging the test beyond 120 min does not increase the diagnostic value. PMID:10095165

Holl, R W; Bucher, P; Sorgo, W; Heinze, E; Homoki, J; Debatin, K M

1999-01-01

315

Stature Prediction Equations for Elderly non-Hispanic White, non-Hispanic black, and Mexican-American Persons Developed from NHANES III Data  

Microsoft Academic Search

Objective To develop new, nationally representative equations to predict stature for racial\\/ethnic groups of the elderly population in the United States.Design Anthropometric data for stature, knee height, and sitting height for adults aged 60 years or older were collected from a sample of persons in the third National Health and Nutrition Examination Survey (1988-1994), a national probability sample of the

W. M. CAMERON CHUMLEA; SHUMEI S GUO; KEVIN WHOLIHAN; DAVID COCKRAM; ROBERT J KUCZMARSKI; CLIFFORD L JOHNSON

1998-01-01

316

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

Microsoft Academic Search

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

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

317

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

PubMed

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

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

2006-12-01

318

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

PubMed Central

The accuracy of height predictions at various ages based on five different methods (Tanner-Whitehouse mark I; Tanner-Whitehouse mark II; index of potential height; Bayley-Pinneau; Roche-Wainer-Thissen) was compared at yearly intervals with final height achieved in 32 boys (78 predictions) and 100 girls (227 predictions) with constitutionally tall stature. The boys were initially seen at a mean (SD) chronological age of 12.5 (3) years whereas the mean chronological age in girls was 11.8 (2.1) years. In tall boys Tanner-Whitehouse mark II gives a good estimation of final height up to the bone age of 13 years with a mean overestimation of 1 cm. The overestimation of final height is higher in the bone age groups 13-14 years (2.7 cm) and 14-15 years (3.4 cm) mainly due to the tall boys with a height greater than 3 SD scores. Up to the bone age of 12 years the final height is massively overestimated by the Bayley-Pinneau method but this method give relatively accurate estimations thereafter. The estimated confidence limits are large (+/- 8 cm) for the two methods up to a bone age of 15 years. In tall girls the Tanner-Whitehouse mark II method was accurate from bone age nine to 12 years but overestimated final height in the bone age groups 12-13 years and 13-15 years by a mean of 1.8 and 1.4 cm respectively. The Bayley-Pinneau method overestimated final height in the bone age groups 12-14 years whereas the height predictions are accurate thereafter. Up to a bone age of 13 years the estimated confidence limits for the two methods are large, +/- cm, but tend to improve thereafter. It is concluded that there is no best or most accurate method for predicting adult height in tall children. There are methods of first choice differing with respect to sex and bone age. In addition, correcting factors may improve their accuracy and correct their tendency to overestimate or underestimate adult height.

Joss, E E; Temperli, R; Mullis, P E

1992-01-01

319

Effect of 2 years of high-dose growth hormone therapy on cognitive and psychosocial development in short children born small for gestational age  

Microsoft Academic Search

Objective and design: Children born small for gestational age (SGA) are not only at risk for short stature, but also for neurodevelopmental and behavioral problems. In this study, we analyzed the effects of high-dose GH therapy on cognitive development and psychosocial functioning in 34 prepubertal (3-8 years) short SGA children, equally randomized into a GH-treated group (TRG) and an untreated

K Lagrou; J Vanderfaeillie; C Froidecoeur; M Thomas; G Massa; S Tenoutasse; M Craen; M C Lebrethon; D Beckers; I Francois; R Rooman; G Thiry-Counson; C de Beaufort; J De Schepper

2007-01-01

320

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

Microsoft Academic Search

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

M Henneberg; GA Harrison; G Brush

1998-01-01

321

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

PubMed

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

Jungers, W L

1988-06-01

322

The influence of parental origin of X chromosome genes on the stature of patients with 45 X Turner syndrome.  

PubMed

Thirty-seven 45 X Turner syndrome patients with confirmed peripheral blood lymphocyte karyotype were initially selected to determine the origin of the retained X chromosome and to correlate it with their parents' stature. Blood samples were available in 25 families. The parental origin of the X chromosome was determined in 24 informative families through the analysis of the exon 1-CAG repeat variation of the androgen receptor gene. In 70.8% of the cases, the retained X chromosome was maternal in origin and 29.2% was paternal. When we classified the patients according to maternal (Xm) or paternal (Xp) X chromosome, there was a positive correlation between patients' and maternal heights only in the Xm group. There was no correlation with paternal height in either group, and a significant correlation with target height was only observed in the Xm group. In conclusion, maternal height is the best variable correlating with the height of 45 X Turner syndrome patients who retain the maternal X chromosome, suggesting a strong influence of genes located on the maternal X chromosome on stature. PMID:17278084

Kochi, C; Longui, C A; Lemos-Marini, S H V; Guerra-Junior, G; Melo, M B; Calliari, L E P; Monte, O

2007-01-18

323

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway  

Microsoft Academic Search

Various syndromes of the Ras-mitogen-activated protein kinase (MAPK) pathway, including the Noonan, Cardio-Facio-Cutaneous, LEOPARD and Costello syndromes, share the common features of craniofacial dysmorphisms, heart defect and short stature. In a subgroup of patients, severe muscle hypotonia, central nervous system involvement and failure to thrive occur as well. In this study we report on five children diagnosed initially with classic

Tjitske Kleefstra; Saskia B Wortmann; Richard J T Rodenburg; Ernie M H F Bongers; Kinga Hadzsiev; Cees Noordam; Lambert P van den Heuvel; Willy M Nillesen; Katalin Hollody; Gabrielle Gillessen-Kaesbach; Martin Lammens; Jan A M Smeitink; Ineke van der Burgt; Eva Morava

2011-01-01

324

The Changing Purpose of Prader-Willi Syndrome Clinical Diagnostic Criteria and Proposed Revised Criteria  

Microsoft Academic Search

Background. Prader-Willi syndrome (PWS) is a complex, multisystem disorder. Its major clinical features include neonatal hypotonia, developmental de- lay, short stature, behavioral abnormalities, childhood- onset obesity, hypothalamic hypogonadism, and charac- teristic appearance.1,2 The genetic basis of PWS is also complex. It is caused by absence of expression of the paternally active genes in the PWS critical region on 15q11-q13. In

Meral Gunay-Aygun; Stuart Schwartz; Shauna Heeger; Mary Ann O'Riordan; Suzanne B. Cassidy

325

Psychopharmacological Treatment of Prader-Willi Syndrome  

Microsoft Academic Search

Prader-Willi syndrome (PWS) is a genetic disorder caused by a mutation of chromosome 15, resulting in infantile hypotonia, obesity, short stature, mild-to-moderate mental retardation and neuroendocrinological abnormalities. A number of behavioral and psychiatric problems such as temper tantrums, self-injurious behavior, impulsiveness, lability of mood, attention deficit and hyperkinetic disorder symptoms, obsessive compulsive disorder and autistic spectrum disorder are associated with

Pei-Ning Chiou; Li-Ping Tsai

2010-01-01

326

Endocrine and metabolic aspects of adult Prader–Willi syndrome with special emphasis on the effect of growth hormone treatment  

Microsoft Academic Search

Prader-Willi syndrome (PWS) is a genetic disorder characterized by mild mental retardation, short stature, abnormal body composition, muscular hypotonia and distinctive behavioural features. Excessive eating causes progressive obesity with increased cardiovascular morbidity and mortality. In the PWS genotype loss of one or more normally active paternal genes in region q11-13 on chromosome 15 is seen. It is supposed that the

Charlotte Höybye

2004-01-01

327

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

PubMed Central

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

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

1998-01-01

328

Genome-wide linkage screen for stature and body mass index in 3.032 families: evidence for sex- and population-specific genetic effects  

Microsoft Academic Search

Stature (adult body height) and body mass index (BMI) have a strong genetic component explaining observed variation in human populations; however, identifying those genetic components has been extremely challenging. It seems obvious that sample size is a critical determinant for successful identification of quantitative trait loci (QTL) that underlie the genetic architecture of these polygenic traits. The inherent shared environment

Sampo Sammalisto; Tero Hiekkalinna; Karen Schwander; Sharon Kardia; Alan B Weder; Beatriz L Rodriguez; Alessandro Doria; Jennifer A Kelly; Gail R Bruner; John B Harley; Susan Redline; Emma K Larkin; Sanjay R Patel; Amy JH Ewan; James L Weber; Markus Perola; Leena Peltonen; L Peltonen

2009-01-01

329

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

Microsoft Academic Search

Growth hormone (GH) was measured before and 10 minutes after a standardised bicycle exercise test (duration 15 minutes) in 37 short children (group 1: mean (SD) age 12.8 (3.5) years; mean (SD) bone age 10.4 (3.6) years; mean (SD) height standard deviation score (SDS) -2.8 (0.7], 16 tall children (group 2: mean age 12.9 (2.8) years; mean bone age 13.9

S A Greene; T Torresani; A Prader

1987-01-01

330

Short Circuit  

NSDL National Science Digital Library

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

Exploratorium, The

2011-12-02

331

The shortness of Pygmies is associated with severe under-expression of the growth hormone receptor.  

PubMed

The stature is a highly heritable trait controlled by genetic and environmental factors. The African Pygmies represent a paradigmatic example of non-disease-related idiopathic short stature (ISS), showing a similar endocrine profile of Caucasian individuals with ISS. Pygmy children show normal anthropometric and endocrine parameters until puberty, while adult Pygmies show normal baseline and post-stimulation serum growth hormone (GH) levels but low values of baseline serum GH-binding protein (GHBP) and insulin-like growth factor-I (IGF-I). This discrepancy suggests a defective response to GH occurring in adulthood since Pygmies lack both the pubertal serum IGF-I surge and the growth spurt. However, sequencing of the key genes of the GH-IGF-I axis failed to identify Pygmy specific variants or haplotypes. We therefore aimed at assessing whether the quantitative gene expression profile of two key genes of the GH-IGF-I axis, GH and GHR, was also similar in low-stature and normal stature populations. We showed that the GH gene expression is 1.8-fold reduced and the GH receptor (GHR) gene expression is 8-fold reduced in adult Pygmies in comparison with sympatric adult Bantu, and that this reduction is not associated with sequence variants of the GHR gene. The marked decrease of the GHR expression in Pygmies is associated with reduced serum levels of the IGF-I and GHBP. Our results, documenting a markedly reduced GHR gene expression in adult Pygmies, could contribute to elucidate the mechanisms involved in ISS in Caucasoid subjects. PMID:19541519

Bozzola, Mauro; Travaglino, Paola; Marziliano, Nicola; Meazza, Cristina; Pagani, Sara; Grasso, Maurizia; Tauber, Maithè; Diegoli, Marta; Pilotto, Andrea; Disabella, Eliana; Tarantino, Paolo; Brega, Agnese; Arbustini, Eloisa

2009-05-28

332

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

PubMed

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

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

1994-02-01

333

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

PubMed

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

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

2012-02-03

334

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

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

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

2012-01-01

335

Size of the exon 1-CAG repeats of the androgen receptor gene employed as a molecular marker in the diagnosis of Turner syndrome in girls with short stature  

Microsoft Academic Search

Turner syndrome (TS) is one of the most common chromo- somal abnormalities among girls. Complete monosomy of X chromosome is responsible for almost 50% of all cases of TS, and mosaicism and X anomaly are detected in the other half. It has already been demonstrated that early diagnosis of these children allows appropriate growth hormone treatment with better final height

C. C. Figueiredo; C. Kochi; C. A. Longui; M. N. Rocha; F. Richeti; N. M. A. Evangelista; L. E. P. Calliari; O. Monte

2008-01-01

336

Estado nutricional em zinco e teste de acuidade do paladar em crianças de baixa estatura familiar Zinc nutritional status and taste acuity test in familial short stature children  

Microsoft Academic Search

Objetivos: Avaliar o estado nutricional em zinco e a percepção do paladar (salgado, doce, ácido e amargo) em crianças de baixa estatura familiar. Métodos: Estudo transversal de 30 crianças sem sinais de puberdade, pacientes do ambulatório de crescimento da Universidade Federal de São Paulo. A ingestão dietética foi avaliada pelo método do Registro Alimentar. Para o teste de acuidade do

Andréa G. Marques; Luiz A. Lopes; Olga M. S. Amancio

337

The ecological significance of long-distance water transport: short-term regulation, long-term acclimation and the hydraulic costs of stature across plant life forms  

Microsoft Academic Search

Plant hydraulic conductance, namely the rate of water flow inside plants per unit time and unit pressure difference, varies largely from plant to plant and under different envi- ronmental conditions. Herein the main factors affecting: (a) the scaling between whole-plant hydraulic conductance and leaf area; (b) the relationship between gas exchange at the leaf level and leaf-specific xylem hydraulic conductance;

M. MENCUCCINI

2003-01-01

338

An Insulin-Like Growth Factor-I Receptor Defect Associated with Short Stature and Impaired Carbohydrate Homeostasis in an Italian Pedigree  

Microsoft Academic Search

Background: Mutations in the insulin-like growth factor-I (IGF-I) receptor (IGF1R) have been associated with prenatal and postnatal growth retardation. However, little is known about potential effects of mutations in the IGF1R on carbohydrate homeostasis. Methods: We investigated clinical, endocrine and metabolic parameters in four family members carrying a novel IGF1R mutation (p.Tyr387X): an 18-year-old male (index case), his sister and

A. Mohn; M. L. Marcovecchio; T. de Giorgis; R. Pfaeffle; F. Chiarelli; W. Kiess

2011-01-01

339

Ghrelin Receptor Gene: Identification of Several Sequence Variants in Extremely Obese Children and Adolescents, Healthy Normal-Weight and Underweight Students, and Children with Short Normal Stature  

Microsoft Academic Search

GH secretagogue receptor (GHSR, ghrelin receptor) is in- volved in regulation of body weight and GH secretion. We initially analyzed two single-nucleotide polymorphisms of the GHSR in up to 184 extremely obese children and adolescents and up to 184 healthy underweight students. The frequency of the 171T allele of rs495225 was higher in our obese samples (75.0%) than in the

HAI-JUN WANG; FRANK GELLER; ASTRID DEMPFLE; NADINE SCHAUBLE; SUSANN FRIEDEL; PETER LICHTNER; FRANCISCO FONTENLA-HORRO; STEFAN WUDY; SANDRA HAGEMANN; LUDWIG GORTNER; KLAUS HUSE; HELMUT REMSCHMIDT; THOMAS BETTECKEN; THOMAS MEITINGER; HELMUT SCHAFER; JOHANNES HEBEBRAND; ANKE HINNEY

340

Inbreeding effects on the growth in stature among Telaga boys and girls of Kharagpur, West Bengal, India.  

PubMed

The present study is an attempt to understand the genetical effects of inbreeding on the process of growth. The inbred and non-inbred subjects were selected on the basis of extensive pedigrees of five generations in the Telaga, an endogamous population of Kharagpur, India. Preference was given to cousins belonging to the same kindreds while selecting control sample so that environmental variation was minimized. Altogether 633 boys and 614 girls of different inbreeding levels aged five to twenty years were measured for stature. Analysis has been done in different levels of inbreeding in each age and sex on mean annual increments and variances of increments. The results revealed that comparison of annual increment for each age between boys and girls with different degrees of inbreeding and application of the one-tailed t-test of significance does not provide any evidence of inbreeding effect on mean increment for stature studied in either sex. This might indicate the absence of marked dominant/recessive effects of genes determining annual increments in body size rather than the absence of genetical control of increments due to growth. Moreover, it is noteworthy that the variance of annual increment due to growth (which is estimated indirectly) consistently increases with increase of inbreeding level with only a few exceptions. The exceptions occur more often in girls than in boys, which can be explained by greater environmental stress and selection pressure and variation in X-linked inbreeding among girls. This would be worthwhile to verify in longitudinal growth data in future. Increased variances of annual increment with inbreeding, in the absence of change of mean increment on inbreeding, would indicate the influence of additive autosomal genes for the process of physical growth in children in either sex. A close scrutiny of the annual increments for the measurements in all the four levels of inbreeding in either sex fails to bring out any consistent trend of change in the age of adolescent spurt with inbreeding. This might suggest an underlying homozygosity of several genes with inbreeding in the population. PMID:17444194

Das, Bidhan Kanti; Mukherjee, D P

2007-03-01

341

Answer to Hypotonia: A Simple Hemogram  

Microsoft Academic Search

A 1-year-old boy with weight loss, decreased activity, and psychomotor regression is presented. He was subjected to an extremely detailed evaluation, including electroencephalography (EEG) and magnetic resonance imaging (MRI), until a simple hemogram in our center revealed that he had macrocytic anemia with megaloblastic changes in the bone marrow. His history revealed that he had been exclusively breast-fed by his

Güler Kanra; Mualla Cetin; Sule Unal; Goknur Haliloglu; Tulay Akça; Nejat Akalan; Ates Kara

2005-01-01

342

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

Microsoft Academic Search

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

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

2009-01-01

343

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

PubMed

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

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

2005-05-15

344

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

Microsoft Academic Search

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

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

2009-01-01

345

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

PubMed

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

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

2006-08-01

346

Natural short sleeper  

MedlinePLUS

Sleep - natural short sleeper ... of 7 - 9 hours of sleep each night. Short sleepers sleep less than 75% of what is normal for their age. Natural short sleepers are different from people who chronically do not ...

347

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

SciTech Connect

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

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

1989-12-01

348

SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling.  

PubMed

The phosphatidylinositol 3 kinase (PI3K) pathway regulates fundamental cellular processes such as metabolism, proliferation, and survival. A central component in this pathway is the p85? regulatory subunit, encoded by PIK3R1. Using whole-exome sequencing, we identified a heterozygous PIK3R1 mutation (c.1945C>T [p.Arg649Trp]) in two unrelated families affected by partial lipodystrophy, low body mass index, short stature, progeroid face, and Rieger anomaly (SHORT syndrome). This mutation led to impaired interaction between p85? and IRS-1 and reduced AKT-mediated insulin signaling in fibroblasts from affected subjects and in reconstituted Pik3r1-knockout preadipocytes. Normal PI3K activity is critical for adipose differentiation and insulin signaling; the mutated PIK3R1 therefore provides a unique link among lipodystrophy, growth, and insulin signaling. PMID:23810379

Chudasama, Kishan Kumar; Winnay, Jonathon; Johansson, Stefan; Claudi, Tor; König, Rainer; Haldorsen, Ingfrid; Johansson, Bente; Woo, Ju Rang; Aarskog, Dagfinn; Sagen, Jørn V; Kahn, C Ronald; Molven, Anders; Njølstad, Pål Rasmus

2013-06-27

349

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

SciTech Connect

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

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

1995-11-20

350

Mutations in PIK3R1 cause SHORT syndrome.  

PubMed

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

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

2013-06-27

351

Search for Genetic Effects of Atomic Bomb Radiation on the Growth and Development of the F sub 1 Generation, 3. Stature of 12- to 14-Year-Old Junior High School Students in Hiroshima.  

National Technical Information Service (NTIS)

In a search for possible genetic effects of atomic bomb radiation on the stature of the offspring of A-bomb survivors a comparative study has been made of junior high school students 12 to 14 years of age born in Hiroshima to exposed and nonexposed parent...

T. Furusho M. Otake

1980-01-01

352

Profiling short tandem repeats from short reads.  

PubMed

Short tandem repeats (STRs), also known as microsatellites, have a wide range of applications, including medical genetics, forensics, and population genetics. High-throughput sequencing has the potential to profile large numbers of STRs, but cumbersome gapped alignment and STR-specific noise patterns hamper this task. We recently developed an algorithm, called lobSTR, to overcome these challenges and to accurately profile STRs from short reads. Here we describe how to use lobSTR to call STR variations from high-throughput sequencing datasets and to diagnose the quality of the calls. PMID:23872972

Gymrek, Melissa; Erlich, Yaniv

2013-01-01

353

Neonatal presentation of Prader Willi sindrome. Personal records.  

PubMed

Prader Willi Syndrome (PWS) is characterized by typical appearance, obesity, short stature, hypothalamic hypogonadism, cryptorchidism, hypotonia, behavioural abnormalities and mental retardation. It is considered as a continuous genes syndrome with different genotypes: microdeletion of the region 15q11-q13 with paternal imprinting; maternal uniparental disomy (UPD) of chromosome 15; chromosomal rearrangement. Clinical manifestations evolve with age from newborn (hypotonia, poor sucking, hypoplastic external genitalia) to childhood (delay in psychomotor development, hyperphagia, obesity, acromicria and craniofacial dysmorphisms). We present five newborns who received an early diagnosis, based on clinical presentation. The early treatment and follow-up can in fact improve the natural evolution of the syndrome in order to prevent respiratory tract diseases and obesity, and to improve growth. PMID:17978792

Maggio, M C; Corsello, M; Piccione, M; Piro, E; Giuffrè, M; Liotta, A

2007-12-01

354

[Short lingual frenulum].  

PubMed

Short lingual frenulum is a common structural abnormality with unknown mechanisms of origination. The frequency of occurrence among newborn infants can be as high as 4%. Short lingual frenulum may cause problems, if it restricts the movements of the tongue. Therapeutic indications for short lingual frenulum in newborn infants are mainly breastfeeding problems, whereas in children of preschool age and older the indication is defective pronunciation. PMID:23786107

Klockars, Tuomas

2013-01-01

355

Prader-Labhart-Willi syndrome.  

PubMed

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

Anavi, Y; Mintz, S M

1990-01-01

356

A short dipole antenna  

Microsoft Academic Search

In order to reduce the effective area of the receiving antenna to receiving microwave power in high electric field regions, a short dipole antenna is investigated numerically and experimentally in this paper. The short dipole antenna is a variation of the conventional half-wave antenna. A 50 ? coaxial transmission line with two symmetrical narrow slots is employed as a feeder

Yu-Wei Fan; Hui-Huang Zhong; Zhi-Qiang Li; Heng Zhou; Wei-Hong Zhou; Jun Zhu; Ling Luo

2008-01-01

357

Short Pulse Test Set.  

National Technical Information Service (NTIS)

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 EEDs in both the pin-to-pin and pins-to...

1990-01-01

358

Genetics Home Reference: SADDAN  

MedlinePLUS

... All people with this condition have extremely short stature with particularly short arms and legs. Other features ... cell ; developmental delay ; dysplasia ; gene ; mutation ; protein ; short stature ; stature ; syndrome ; tissue You may find definitions for ...

359

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

PubMed Central

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

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

2008-01-01

360

Proposal Writing Short Course  

NSDL National Science Digital Library

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

Foundation Center (Foundation Center)

2012-01-04

361

Short pulse test set  

NASA Astrophysics Data System (ADS)

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

1990-11-01

362

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

Microsoft Academic Search

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

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

2004-01-01

363

Measurement of short bunches  

SciTech Connect

In recent years, there has been increasing interest in short electron bunches for different applications such as short wavelength FELs, linear colliders, and advanced accelerators such as laser or plasma wakefield accelerators. One would like to meet various requirements such as high peak current, low momentum spread, high luminosity, small ratio of bunch length to plasma wavelength, and accurate timing. Meanwhile, recent development and advances in RF photoinjectors and various bunching schemes make it possible to generate very short electron bunches. Measuring the longitudinal profile and monitoring bunch length are critical to understand the bunching process and longitudinal beam dynamics, and to commission and operate such short bunch machines. In this paper, several commonly used measurement techniques for subpicosecond bunches and their relative advantages and disadvantages are discussed. As examples, bunch length related measurements at Jefferson lab are presented. At Jefferson Lab, bunch lengths s short as 84 fs have been systematically measured using a zero-phasing technique. A highly sensitive Coherent Synchrotron Radiation (CSR) detector has been developed to noninvasively monitor bunch length for low charge bunches. Phase transfer function measurements provide a means of correcting RF phase drifts and reproducing RF phases to within a couple of tenths of a degree. The measurement results are in excellent agreement with simulations. A comprehensive bunch length control scheme is presented.

Wang, D.X.

1996-10-01

364

Short wavelength FELS  

SciTech Connect

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

Sheffield, R.L.

1991-01-01

365

The Short Run  

NSDL National Science Digital Library

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

366

Bloom syndrome in short children born small for gestational age: a challenging diagnosis.  

PubMed

Background: GH treatment has become a frequently applied growth-promoting therapy in short children born small for gestational age (SGA). In some disorders GH treatment is contraindicated, eg, chromosomal breakage syndromes. Bloom syndrome is a rare chromosomal breakage syndrome characterized by severe pre- and postnatal growth deficiency, a photosensitive facial erythema, immunodeficiency, mental retardation or learning disabilities, endocrinopathies, and a predisposition to develop a wide variety of cancers. Objective: We report 2 patients with Bloom syndrome illustrating the variety in clinical manifestations. They were initially diagnosed with short stature after SGA birth and Silver Russell syndrome and treated with GH. Cases: Both patients presented with pre- and postnatal growth failure but no clear other characteristic features associated with Bloom syndrome. Photosensitive skin lesions developed only at a pubertal age and were minimal. Also, both children showed normal immunoglobulin levels, normal development, and no signs of endocrinopathies at start of GH. Dysmorphic features resembling Silver Russell syndrome were observed in both patients. Remarkably, during GH treatment IGF-1 levels increased to values greater than 3.5 SD score, with normal IGF binding protein-3 levels. Conclusion: Short children born SGA comprise a heterogeneous group. Bloom syndrome should be tested for in children with consanguineous parents, dysmorphic features (particularly resembling Silver Russell syndrome), skin abnormalities, and/or IGF-1 levels greater than 2.5 SD score during standard GH treatment with normal IGF binding protein-3 levels. PMID:23928670

Renes, Judith S; Willemsen, Ruben H; Wagner, Anja; Finken, Martijn J J; Hokken-Koelega, Anita C S

2013-08-08

367

Science Shorts: Building Bridges  

NSDL National Science Digital Library

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

Adams, Barbara

2006-07-01

368

Short Group Signatures  

Microsoft Academic Search

We construct a short group signature scheme. Signatures in our scheme are approximately the size of a standard RSA signature with the same security. Security of our group signature is based on the Strong Die-Hellman assumption and a new assumption in bilinear groups called the Decision Linear assumption. We prove security of our system, in the random oracle model, using

Dan Boneh; Xavier Boyen; Hovav Shacham

2004-01-01

369

Short wavelength laser  

DOEpatents

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

Hagelstein, P.L.

1984-06-25

370

Troubling Practices: Short Responses  

ERIC Educational Resources Information Center

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

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

2012-01-01

371

Summarizing Short Stories  

Microsoft Academic Search

We present an approach to the automatic creation of extractive summaries of literary short stories. The summaries are produced with a specific objective in mind: to help a reader decide whether she would be interested in reading the complete story. To this end, the summaries give the user relevant information about the setting of the story without revealing its plot.

Anna Kazantseva; Stan Szpakowicz

2010-01-01

372

Science Shorts: Spoilage Science  

NSDL National Science Digital Library

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

2005-01-01

373

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

PubMed

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

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

374

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

PubMed Central

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

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

2013-01-01

375

Short wavelength laser  

DOEpatents

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

Hagelstein, Peter L. (Livermore, CA)

1986-01-01

376

Short Anagen Hair Syndrome  

PubMed Central

Short anagen syndrome (SAS) is a condition in which hair does not grow long. It usually perceived by parents in children around 2-4 years of age. It is a benign disease of the hair cycle. The condition is relevant from the standpoint of differential diagnosis with loose anagen syndrome. We report a case of SAS in a Hispanic 3-year-old girl.

Herskovitz, Ingrid; de Sousa, Isabel Cristina Valente Duarte; Simon, Jessica; Tosti, Antonella

2013-01-01

377

Short-Pulse Physics  

NASA Astrophysics Data System (ADS)

The last century has seen the development of coherent light sources that have pushed our capability to probe properties of matter to a high level of sophistication. Femtosecond (fs) laser technology has paved the way to what is known as ultrafast science and led, in particular, to the mature field of femtochemistry (Hertel 2006). Concurrently, short pulses allowed to reach unprecedented photo-excitation conditions in which the coherent absorption of a large number of photons occurs, producing highly nonlinear phenomena.

Lépine, Franck

378

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

PubMed

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

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

2012-01-01

379

Assessment of Health-Related Quality of Life and Patient Satisfaction in Children and Adolescents with Growth Hormone Deficiency or Idiopathic Short Stature – Part 1: A Critical Evaluation of Available Tools  

Microsoft Academic Search

The concept of health-related quality of life (HrQoL) reflects the subjective perception of health and includes aspects of well-being and functioning in physical, emotional, mental and social life domains. Nowadays, HrQoL has become a relevant treatment outcome from epidemiological and clinical perspectives and is also broadly employed in health economic analyses. To assess HrQoL generic as well as condition-specific instruments

Anna Levke Brütt; David E. Sandberg; John Chaplin; Hartmut Wollmann; Meinolf Noeker; Monika Bullinger

2009-01-01

380

Growth hormone neurosecretory dysfunction in a boy with hypohidrotic/anhidrotic ectodermal dysplasia: definition of short stature, molecular characterization and long-term hGH replacement treatment to final height.  

PubMed

Anhidrotic/hypohidrotic ectodermal dysplasia is a rare disorder, genetically heterogeneous, commonly X-linked recessive inherited, characterized by hypoplasia up to the absence of the eccrine glands with hypo-anhidrosis and secondary hyperpyrexia, hypodontia and some typical craniofacial features. Some papers have described how these patients may show poor growth, while other recent research shows normal growth. We report a boy with anhidrotic/hypohidrotic ectodermal dysplasia and growth hormone neurosecretory dysfunction, an association not previously reported, and we discuss the possible causes as well as the patient's response to growth hormone treatment until he reached final height. PMID:19960895

Stagi, S; Lapi, E; Sani, I; Bindi, G; Quaranta, M R; Salti, R; Chiarelli, F

2009-09-01

381

Human Growth Hormone Treatment of Short-Stature Children Born Small for Gestational Age: Effect on Muscle and Adipose Tissue Mass during a 3Year Treatment Period and after 1 Year's Withdrawal  

Microsoft Academic Search

In addition to its growth promoting effect, GH has profound met- abolic effects that have not always been evaluated in longitudinal studies. We have recently shown that the effect of GH on body com- position can be evaluated by magnetic resonance imaging measure- ment of adipose and muscle tissue cross-sectional (cs) areas in the thigh. The aim of this study

JULIANE LEGER; CATHERINE GAREL; ANNE FJELLESTAD-PAULSEN; MAX HASSAN; PAUL CZERNICHOW

382

The Genetic Contribution to Stature  

Microsoft Academic Search

A strong resemblance exists between the height of family members, and the extent of this similarity increases as the family relationship becomes closer. This suggests that there is a genetic basis to adult height. The genetic basis of height is particularly apparent in monozygotic twins who have been reared apart. Although it is difficult to separate completely the genetic and

Michael A. Preece

1996-01-01

383

Online Short Course: The Universe  

NSDL National Science Digital Library

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

1900-01-01

384

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

SciTech Connect

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

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

1995-04-01

385

[Short QT syndrome].  

PubMed

Short QT syndrome was first described in 2000. It is a sporadic or familial ion channel disease that is associated with abbreviation of the QT interval permanently or transiently. The time of first manifestation of symptoms such as atrial fibrillation or syncope or even sudden death is between the 2nd and 4th decade. Sudden death has also been described for newborns and adolescents. Therapy depends on the severity of the symptoms. The therapy of choice for secondary prevention of sudden death is the implantable cardioverter-defibrillator (ICD). Quinidine has been shown to be effective in preventing arrhythmias in a number of patients. It is mostly used as an adjunct to the ICD but has also been used with considerable success in children and individuals who refused ICD implantation. PMID:23001291

Wolpert, C; Veltmann, C; Schimpf, R; Borggrefe, M; Herrera-Siklody, C; Parade, U; Strotmann, C; Rüb, N

2012-09-22

386

The Business Ethics of Short Selling and Naked Short Selling  

Microsoft Academic Search

The controversy over short selling has continued unabated from the introduction of modern equity trading in Amsterdam in 1610\\u000a to the present day. Nevertheless, the business ethics literature has not really addressed short selling. Short sellers not\\u000a only profit from the misery of others, they also create it through their selling activities. However, they also provide a\\u000a socially useful service

James J. Angel; Douglas M. McCabe

2009-01-01

387

Are Short GRBs Really Hard?  

SciTech Connect

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

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

2006-05-19

388

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

PubMed

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

Hagenäs, Lars; Hertel, Thomas

2003-01-01

389

Practical Short Signature Batch Verification  

Microsoft Academic Search

Abstract In many applications, it is desirable to work with signatures that are both short, and yet where many messages from dierent signers be veried,very quickly. RSA signatures satisfy the latter condition, but are generally thousands of bits in length. Recent developments in pairing- based cryptography produced a number of \\\\short\\

Anna Lisa Ferrara; Matthew Green; Susan Hohenberger; Michael Østergaard Pedersen

2009-01-01

390

Shortness of Breath and Eating  

MedlinePLUS

... Nutrition Reflux and Lung Disease Back-to-School Nutrition Tips Proper Hydration Sodium Dangers Plant-Based Diets Make an appointment Ask a Question Refer a Patient 1.877.CALL NJH ( 877.225.5654 ) ... > Health Information > Healthy Lifestyle > Nutrition > Shortness of Breath and Eating Shortness of Breath ...

391

Classification of Setswana short stories  

Microsoft Academic Search

Classification of Setswana short stories The aim of this article is to reclassify Setswana short stories according to their treatment of female characters. Critics such as Ranamane have classified Setswana literary works accord- ing to year of publication, without giving any valid reasons for this type of classification. This article, focusing on the develop- ment of the characterisation of women

M. J. Mojalefa; M. M. Makgato

2007-01-01

392

Short Stories in the Classroom.  

ERIC Educational Resources Information Center

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

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

393

Short Stories in the Classroom.  

ERIC Educational Resources Information Center

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

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

394

Growth hormone therapy in short children without classical growth hormone deficiency.  

PubMed

The spontaneous secretion of GH which determines the growth in height as well as the GH increment in the provocation tests (the socalled pituitary reserve) is diminished in pituitary dwarfism. In numerous other growth disorders only the spontaneous GH secretion is impaired. Amongst others this is true of the syndrome of constitutional delay of growth and adolescence which is the most frequent growth disorder in childhood and of the growth retardation after X-ray irradiation of the skull. In all these cases treatment by hGH represents replacement therapy. In children with intrauterine growth retardation, familial short stature and skeletal dysplasias growth hormone deficiency cannot be proved. In most cases the growth velocity cannot be accelerated with hGH in the usual replacement doses. High doses of hGH may be successful. In endogenous and exogenous hypercortisolism the spontaneous GH secretion is suppressed and the effect of the somatomedins on the growing cartilage is inhibited. This is not only true of Cushing's Syndrome and corticosteroid therapy but also of cases of glycogenosis Type I. The resulting growth retardation can - at least partly - be overcome with hGH. Preliminary investigations show that the growth retardation in children with chronic renal failure can successfully be treated by hGH. PMID:2681346

Bierich, J R

1989-01-01

395

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

PubMed

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

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

2012-10-03

396

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

PubMed Central

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

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

2011-01-01

397

Short QT syndrome: pharmacological treatment  

Microsoft Academic Search

ObjectivesThe purpose of this study was to evaluate the efficacy of various antiarrhythmic drugs at prolonging the QT interval into the normal range and preventing ventricular arrhythmias in patients with short QT syndrome.

Fiorenzo Gaita; Carla Giustetto; Francesca Bianchi; Rainer Schimpf; Michel Haissaguerre; Ramon Brugada; Charles Antzelevitch; Martin Borggrefe; Christian Wolpert

2004-01-01

398

(Short Articles on Energy Conservation).  

National Technical Information Service (NTIS)

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); ...

L. Hodges

1985-01-01

399

Pitch Based Short Carbon Fiber.  

National Technical Information Service (NTIS)

Short carbon fiber manufactured from coal tar pitch by Osaka Gas Co. is examined by chemical composition analysis, X-ray powder diffraction, optical microscope, and electron spectroscopic techniques. The present analytical results are compared with the da...

S. S. Lin

1991-01-01

400

Short Mode Selective Directional Couplers.  

National Technical Information Service (NTIS)

Short mode selective directional couplers for transverse electric (TE) modes travelling in overmoded circular waveguides are described. Directivity is achieved by pairs of holes with destructive interference in backward direction, unwanted modes are suppr...

G. Janzen H. Stickel

1983-01-01

401

SOAP: short oligonucleotide alignment program  

Microsoft Academic Search

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

Ruiqiang Li; Yingrui Li; Karsten Kristiansen; Jun Wang

2008-01-01

402

Yahoo! Movies Online Shorts Directory  

NSDL National Science Digital Library

Yahoo! recently launched a new directory and search engine for online short films. Drawing from some of the leading online movie sites, including Ifilm, AtomFilms, and Icebox, the site may be browsed by genre or searched by keyword. There is quite a bit here; at time of review, the directory indexed close to 2,800 films. Aspiring auteurs can also suggest their own short film for inclusion.

2000-01-01

403

Short Distance Repulsion among Baryons  

NASA Astrophysics Data System (ADS)

We review recent investigations on the short distance behaviors of potentials among baryons, which are formulated through the Nambu-Bethe-Salpeter (NBS) wave function. After explaining the method to define the potentials, we analyze the short distance behavior of the NBS wave functions and the corresponding potentials by combining the operator product expansion (OPE) and a renormalization group (RG) analysis in the perturbation theory (PT) of QCD. These analytic results are compared with numerical results obtained in lattice QCD simulations.

Aoki, Sinya; Balog, Janos; Doi, Takumi; Inoue, Takashi; Weisz, Peter

2013-05-01

404

Short-sale constraints and stock returns  

Microsoft Academic Search

Stocks can be overpriced when short-sale constraints bind. We study the costs of short-selling equities from 1926 to 1933, using the publicly observable market for borrowing stock. Some stocks are sometimes expensive to short, and it appears that stocks enter the borrowing market when shorting demand is high. We find that stocks that are expensive to short or which enter

Charles M. Jones; Owen A. Lamont

2002-01-01

405

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

PubMed Central

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

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

2011-01-01

406

The stature of boys is inversely correlated to the levels of their sertoli cell hormones: do the testes restrain the maturation of boys?  

PubMed

The testes of preadolescent boys appear to be dormant, as they produce only trace levels of testosterone. However, they release supra-adult levels of Müllerian Inhibiting Substance (MIS, anti-Müllerian hormone) and lesser levels of inhibin B (InhB), for unknown reasons. Boys have a variable rate of maturation, which on average is slower than girls. The height of children relative to their parents is an index of their maturity. We report here that a boy's level of MIS and InhB is stable over time and negatively correlates with his height and his height relative to his parent's height. This suggests that boy's with high levels of MIS and InhB are short because they are immature, rather than because they are destined to be short men. The levels of MIS and InhB in the boys did not correlate with known hormonal modulators of growth, and were additive with age and the growth hormone/IGF1 axis as predictors of a boy's height. If MIS and InhB were causal regulators of maturity, then the inter-boy differences in the levels of these hormone produces variation in maturation equivalent to 18-months of development. MIS and InhB may thus account for most of the variation in the rate of male development. If boys lacked these hormones, then an average 5-year-old boy would be over 5 cm taller than age-matched girls, making boys almost as dimorphic as men, for height. This indicates that boys have a high growth potential that is initially suppressed by their testes. The concept of the childhood testes suppressing an adult male feature appears paradoxical. However, the growth of children requires intergenerational transfer of nutrients. Consequently, the MIS/InhB slowing of male growth may have been historically advantageous, as it would minimizes any sex bias in the maternal cost of early child rearing. PMID:21655101

Morgan, Kirstie; Dennis, Nicola A; Ruffman, Ted; Bilkey, David K; McLennan, Ian S

2011-06-02

407

Palliative care - shortness of breath  

MedlinePLUS

Dyspnea - end-of-life ... of breath is a common symptom at the end of life. Talk with your doctors and nurses so you are prepared if it occurs. At the end of life, it is common to feel short of breath. ...

408

Short-term energy outlook  

SciTech Connect

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.

Not Available

1990-11-07

409

Long Short-Term Memory  

Microsoft Academic Search

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

Sepp Hochreiter; Jürgen Schmidhuber

1997-01-01

410

Securities lending, shorting, and pricing  

Microsoft Academic Search

We present a model of asset valuation in which short-selling requires searching for security lenders and bargaining over the lending fee. If lendable securities are difficult to locate, then the price of the security is initially elevated, and expected to decline. This price decline is to be anticipated, for example, after an initial public offering, and is increasing in the

Darrell Duffie; Nicolae Gârleanu; Lasse Heje Pedersen

2002-01-01

411

Securities lending, shorting, and pricing  

Microsoft Academic Search

We present a model of asset valuation in which short-selling is achieved by searching for security lenders and by bargaining over the terms of the lending fee. If lendable securities are difficultto locate, then the price of the security is initially elevated, and expected to decline over time. This price decline is to be anticipated, for example, after an initial

Darrell Darrell Duffie; Nicolae Bogdan Garleanu; Lasse Heje Pedersen

2002-01-01

412

Short History of the NCO.  

National Technical Information Service (NTIS)

This monograph is a short history of the U.S. Army Noncommissioned Officer (NCO). The history of the United States Army and of the noncommissioned officer began in 1775, with the birth of the Continental Army. The American noncommissioned officer did not ...

L. R. Arms

1991-01-01

413

Her Closet: Narrative Short Film  

Microsoft Academic Search

This thesis is a detailed demonstration of the process of writing, pre-production, production, editing and exhibition applied to the short narrative film, Her Closet. It critiques the film from story conception, directing and writing applications especially. Contexts for the film are applied in topics of film genre, story form and psychological approaches. This written thesis serves to explain the development

Amy Sanderson

2005-01-01

414

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

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. PMID:19239081

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

2008-01-01

415

A short story of the short QT syndrome.  

PubMed

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

Maluli, Hayan Al; Meshkov, Arnold B

2013-01-01

416

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

PubMed Central

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

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

2012-01-01

417

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

PubMed

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

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

2010-09-23

418

MAOA/B deletion syndrome in male siblings with severe developmental delay and sudden loss of muscle tonus.  

PubMed

Deletion of the monoamine oxidase (MAO)-A and MAO-B was detected in two male siblings and in their mother. The approximately 800-kb deletion, extending from about 43.0MB to 43.8MB, was detected by array comparative genomic hybridization analysis. The MAOA and MAOB genes were included in the deletion, but the adjacent Norrie disease gene, NDP, was not deleted. The boys had short stature, hypotonia, severe developmental delays, episodes of sudden loss of muscle tone, exiting behavior, lip-smacking and autistic features. The serotonin levels in their cerebrospinal fluid were extremely elevated. Another set of siblings with this deletion was reported previously. We propose recognition of MAOA/B deletion syndrome as a distinct disorder. PMID:23414621

Saito, Mari; Yamagata, Takanori; Matsumoto, Ayumi; Shiba, Yusuke; Nagashima, Masako; Taniguchi, Shuhei; Jimbo, Eriko; Momoi, Mariko Y

2013-02-13

419

Differential gene expression reveals mitochondrial dysfunction in an imprinting center deletion mouse model of prader-willi syndrome.  

PubMed

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

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

2013-07-29

420

Optimal Short-Sighted Rules  

PubMed Central

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

Bourgeois-Gironde, Sacha

2012-01-01

421

Recurrent short rib polydactyly syndrome.  

PubMed

We present three consecutive cases of skeletal dysplasias of a non-consanguineous couple with five pregnancies. The diagnosis of short-rib polydactyly syndrome (SRPS) was feasible by ultrasound during the 1st trimester of pregnancy. SRPS represents a heterogeneous group of lethal skeletal dysplasias. It is characterised by short limb dwarfism complicated by thoracic hypoplasia, polydactyly and different anomalies of major organs such as congenital heart defects and renal dysplasia. Four major types of the SRPS have been described: type I (Saldino-Noonan); type II (Majewski); type III (Verma-Naumoff) and type IV (Beemar-Langer). However, there is phenotypic overlapping between four types and with those of non-lethal skeletal dysplasias (i.e. Ellis-van Creveld syndrome and Jeune syndrome). Our cases show the importance of the nuchal translucency (NT) scan that offers the opportunity to examine fetal anatomy in the 1st trimester and diagnose rare skeletal abnormalities early in pregnancy. PMID:23259870

Eleftheriades, M; Iavazzo, C; Manolakos, E; Hassiakos, D; Botsis, D; Petersen, M; Konstantinidou, A

2013-01-01

422

Optimal short-sighted rules.  

PubMed

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

Bourgeois-Gironde, Sacha

2012-09-11

423

Singular potentials with short range  

Microsoft Academic Search

Summary  Previous works have shown the properties and the possibility of useful approximate methods for the Jost functions, and the\\u000a radial wave functions in the case of Yukawa generalized potentials, less or equally singular than the centrifugal term. Here\\u000a we extend some of these results to a larger class of short-range potentials which, near the origin, can be represented as\\u000a a

H. Cornille; Enrico Predazzi

1965-01-01

424

Short term hospital occupancy prediction  

Microsoft Academic Search

Inpatient census, or occupancy, is a primary driver of resource use in hospitals. Fluctuations in occupancy complicate decisions\\u000a related to staffing, bed management, ambulance diversions, and may ultimately impact both quality of patient care and nursing\\u000a job satisfaction. We describe our approach in building a computerized model to provide short-term occupancy predictions for\\u000a an entire hospital by nursing unit and

Steven J. Littig; Mark W. Isken

2007-01-01

425

Science Shorts: Exploring Insect Vision  

NSDL National Science Digital Library

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

Damonte, Kathleen

2005-02-01

426

What Is Energy? Short Demos  

NSDL National Science Digital Library

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

Integrated Teaching And Learning Program

427

Tilt changes of short duration  

USGS Publications Warehouse

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.

McHugh, Stuart

1976-01-01

428

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

SciTech Connect

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

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

1994-09-01

429

Ultra-short pulse generator  

DOEpatents

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

McEwan, T.E.

1993-12-28

430

Recycler short kicker beam impedance  

SciTech Connect

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

Crisp, Jim; Fellenz, Brian; /Fermilab

2009-07-01

431

Grades 11-12 Short Stories  

Microsoft Academic Search

Within a unit dedicated to reading, writing, and analyzing short stories, the lesson explores the key elements in composing engaging work. Students are given a multiplicity of activities to explore and determine what makes the short story, \\

Lauren Russo

2010-01-01

432

TOXIC MODELING SYSTEM SHORT-TERM (TOXST)  

EPA Science Inventory

The Toxic Modeling System Short-Term (TOXST) addresses the problem of estimating expected exceedances of specified short-term health effects thresholds in the vicinity of continuous and intermittent toxic releases. Certain industrial facilities emit airborne toxic chemicals known...

433

Online Short Course: Gravity and Orbits  

NSDL National Science Digital Library

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

1900-01-01

434

Short-Stay Inpatient Psychiatric Services.  

National Technical Information Service (NTIS)

Short-stay psychiatric bed planning must incorporate various settings (outpatient, emergency department, short-stay, and long-stay), various diagnoses, and target populations requiring different degrees of treatment. Adequate manpower and support services...

1981-01-01

435

Short circuit proof IGBTs simplify overcurrent protection  

Microsoft Academic Search

The author describes work being performed to manufacture, test, and characterize short-circuit proof IGBTs (insulated-gate bipolar transistors). These rugged devices can survive short circuit loads, which enable the power circuit to interrupt this current without blowing fuses. The devices are aimed specifically at the motor control market, where accidental load short circuits are common, but the devices should also find

R. E. Locher

1991-01-01

436

Finding Relevance in "Classic" Short Fiction.  

ERIC Educational Resources Information Center

|Suggests that by linking the issues and conflict of classic short fiction to the problems today's students face, an imaginative teacher can still make classic short fiction relevant and compelling. Shares some ideas about how to approach teaching two classic stories that the author has used with success. Concludes that making classic short

Sayre, Eric

2002-01-01

437

Natural language insensitive short textual string compression  

Microsoft Academic Search

There are applications (such as Internet search engines) where short textual strings, for example abstracts or pieces of Web pages, need to be compressed independently of each other. The usual adaptive compression algorithms perform poorly on these short strings due to the lack of necessary data to learn. In this manuscript, we introduce a compression algorithm targeting short text strings;

Cornel Constantinescu; Jennifer Q. Trelewicz; Ronald B. Arps

2004-01-01

438

Short Pulse Laser Applications Design  

SciTech Connect

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 facility, called HiPER, designed to demonstrate FI. Our design work has focused on the NIF, which is the only facility capable of forming a full-scale hydro assembly, and could be adapted for full-scale FI by the conversion of additional beams to short-pulse operation.

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

2008-02-11

439

Magnetic states at short distances  

NASA Astrophysics Data System (ADS)

The magnetic interactions between a fermion and an antifermion of opposite electric or color charges in the S0-+1 and P0++3 states with J=0 are very attractive and singular near the origin and may allow the formation of new bound and resonance states at short distances. In the two-body Dirac equations formulated in constraint dynamics, the short-distance attraction for these states for point particles leads to a quasipotential that behaves near the origin as -?2/r2, where ? is the coupling constant. Representing this quasipotential at short distances as ?(?+1)/r2 with ?=(-1+1-4?2)/2, both S0-+1 and P0++3 states admit two types of eigenstates with drastically different behaviors for the radial wave function u=r?. One type of states, with u growing as r?+1 at small r, will be called usual states. The other type of states with u growing as r-? will be called peculiar states. Both of the usual and peculiar eigenstates have admissible behaviors at short distances. Remarkably, the solutions for both sets of S01 states can be written out analytically. The usual bound S01 states possess attributes the same as those one usually encounters in QED and QCD, with bound QED state energies explicitly agreeing with the standard perturbative results through order ?4. In contrast, the peculiar bound S01 states, yet to be observed, not only have different behaviors at the origin, but also distinctly different bound state properties (and scattering phase shifts). For the peculiar S01 ground state of fermion-antifermion pair with fermion rest mass m, the root-mean-square radius is approximately 1/m, binding energy is approximately (2-2)m, and rest mass approximately 2m. On the other hand, the (n+1)S01 peculiar state with principal quantum number (n+1) is nearly degenerate in energy and approximately equal in size with the nS01 usual states. For the P03 states, the usual solutions lead to the standard bound state energies and no resonance, but resonances have been found for the peculiar states whose energies depend on the description of the internal structure of the charges, the mass of the constituent, and the coupling constant. The existence of both usual and peculiar eigenstates in the same system leads to the non-self-adjoint property of the mass operator and two nonorthogonal complete sets. As both sets of states are physically admissible, the mass operator can be made self-adjoint with a single complete set of admissible states by introducing a new peculiarity quantum number and an enlarged Hilbert space that contains both the usual and peculiar states in different peculiarity sectors. Whether or not these newly-uncovered quantum-mechanically acceptable peculiar S01 bound states and P03 resonances for point fermion-antifermion systems correspond to physical states remains to be further investigated.

Crater, Horace W.; Wong, Cheuk-Yin

2012-06-01

440

Magnetic Resonance at Short Distances  

SciTech Connect

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

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

2012-01-01

441

Science Shorts: Energy in Motion  

NSDL National Science Digital Library

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

Adams, Barbara

2007-03-01

442

Independent Lens Online Shorts Festival  

NSDL National Science Digital Library

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

443

Short wavelength interferometer for ITER  

SciTech Connect

There is a need for a real time, reliable density measurement compatible with the restricted access and radiation environment on ITER. Due to the large plasma path length, high density and field, refraction and Faraday rotation effects makes the use of contemporary long wavelength (>50{mu}m) interferometers impractical. In this paper we consider the design of a short wavelength vibration compensated interferometer which allows operation without a prohibitively large vibration isolated structure and permits the optics to be conveniently mounted directly in or on the tokamak. A density interferometer design for ITER incorporating a 10.6 {mu}m CO{sub 2} interferometer with vibration compensation provided by a 3. 39 {mu}m HeNe laser is discussed. The proposed interferometer design requires only a small intrusion into the ITER tokamak without a large support structure, refraction and Faraday rotation problems are avoided, and it provides a density resolution of at least 0.5%. Results are presented from an interferometer installed on the DIII-D tokamak incorporating essential elements of the proposed ITER design including 10.6 and 3.39 {mu}m lasers, a retro-reflector mounted on the vacuum wall of the DIII-D tokamak and real-time density feedback control. In this paper we consider a short wavelength interferometer design that incorporates vibration compensation for use on ITER. Our primary concern is to develop a interferometer design that will produce a reliable real time density monitor. We use the ITER conceptual design activity report as the basis of the design.

Snider, R.T.; Carlstrom, T.N.

1992-04-01

444

Physics of Very Short Wavelength Acceleration  

NASA Astrophysics Data System (ADS)

The motivation and physics issues for scaling particle accelerators to very short wavelengths is discussed. Issues of breakdown, dark current and stored energy argue for short wavelengths to increase accelerator gradients, and beam-beam physics at high energy colliders favor short bunches associated with short wavelength accelerators. However, the strong scaling of transverse wakefields at short wavelengths can lead to head-tail instability and difficult tolerances for the structure's fabrication. Several novel approaches such as photonic band gap structures and plasmas aim to overcome these issues with fundamentally new approaches.

Katsouleas, T.

2006-01-01

445

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

PubMed Central

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

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

2013-01-01

446

Common variants show predicted polygenic effects on height in the tails of the distribution, except in extremely short individuals.  

PubMed

Common genetic variants have been shown to explain a fraction of the inherited variation for many common diseases and quantitative traits, including height, a classic polygenic trait. The extent to which common variation determines the phenotype of highly heritable traits such as height is uncertain, as is the extent to which common variation is relevant to individuals with more extreme phenotypes. To address these questions, we studied 1,214 individuals from the top and bottom extremes of the height distribution (tallest and shortest ?1.5%), drawn from ?78,000 individuals from the HUNT and FINRISK cohorts. We found that common variants still influence height at the extremes of the distribution: common variants (49/141) were nominally associated with height in the expected direction more often than is expected by chance (p<5×10?²?), and the odds ratios in the extreme samples were consistent with the effects estimated previously in population-based data. To examine more closely whether the common variants have the expected effects, we calculated a weighted allele score (WAS), which is a weighted prediction of height for each individual based on the previously estimated effect sizes of the common variants in the overall population. The average WAS is consistent with expectation in the tall individuals, but was not as extreme as expected in the shortest individuals (p<0.006), indicating that some of the short stature is explained by factors other than common genetic variation. The discrepancy was more pronounced (p<10??) in the most extreme individuals (height<0.25 percentile). The results at the extreme short tails are consistent with a large number of models incorporating either rare genetic non-additive or rare non-genetic factors that decrease height. We conclude that common genetic variants are associated with height at the extremes as well as across the population, but that additional factors become more prominent at the shorter extreme. PMID:22242009

Chan, Yingleong; Holmen, Oddgeir L; Dauber, Andrew; Vatten, Lars; Havulinna, Aki S; Skorpen, Frank; Kvaløy, Kirsti; Silander, Kaisa; Nguyen, Thutrang T; Willer, Cristen; Boehnke, Michael; Perola, Markus; Palotie, Aarno; Salomaa, Veikko; Hveem, Kristian; Frayling, Timothy M; Hirschhorn, Joel N; Weedon, Michael N

2011-12-29

447

Short-term growth in children with allergic rhinitis treated with oral antihistamine, depot and intranasal glucocorticosteroids.  

PubMed

Short-term growth was studied during the grass pollen season with weekly knemometry in 44 schoolchildren with allergic rhinitis. The design was a randomized, parallel group study. After a four-weeks run-in period, the children were allocated to six weeks' treatment with either a single im injection of methylprednisolone acetate 60 mg at the beginning of the period, intranasal budesonide 200 micrograms bid (aerosol spray) or terfenadine tablets 60 mg daily. Treatment with methylprednisolone acetate was open, whereas treatment with budesonide and terfenadine was double-blinded. Twelve children in the methylprednisolone acetate group, 11 in the budesonide group and 12 in the terfenadine group completed the study. Compared with the run-in period, treatment with methylprednisolone acetate and budesonide (run-in growth velocities 0.46 and 0.59 mm/week, respectively) was associated with a reduction in mean lower leg growth velocity of 0.28 and 0.54 mm/week (p < 0.01, t = 3.3, 95% confidence interval 0.09-0.47 mm/week; and p < 0.001, t = 6.1, 95% confidence interval 0.34-0.72 mm/week, respectively). Terfenadine (run-in and treatment mean growth velocity 0.35 and 0.51 mm/week) did not influence lower leg growth significantly. Short-term lower leg growth is suppressed in children with allergic rhinitis treated with intranasal and depot steroids in the doses investigated. No conclusions can be drawn with respect to long-term statural growth. PMID:8104062

Wolthers, O D; Pedersen, S

1993-08-01

448

Prevalence of Extended Emission in Short GRBs  

NASA Astrophysics Data System (ADS)

The soft, low-intensity component persisting for tens of seconds after the much more intense initial pulse complex (IPC) in short bursts is apparent in both the BATSE and Swift/BAT samples. This extended emission (EE) component is present in ~25% of BAT and BATSE short bursts. The average principle properties of IPCs of short bursts with and without EE are indistin-guishable, suggesting that short bursts are ``unified''. In most short bursts with EE the ratio of average EE flux to peak IPC flux ranges over R~10-3-5×10-2. A statistical treatment of the BATSE sample, and calibration of the BAT sensitivity to the EE component, suggest that R~10-3 may be the lower cutoff-that ~3/4 of short GRBs are truly short with no EE.

Norris, Jay P.; Gehrels, Neil

2008-05-01

449

Noonan syndrome  

MedlinePLUS

... about 25% of cases) Sagging eyelids ( ptosis ) Short stature Small penis Undescended testicles Unusual chest shape (usually ... hormone has been used successfully to treat short stature in some persons with Noonan syndrome.

450

Genetics Home Reference: Robinow syndrome  

MedlinePLUS

... leading to an abnormal curvature of the spine (kyphoscoliosis); fused or missing ribs; and short stature. Affected ... gene ; genitalia ; genitals ; gums ; inheritance ; inheritance pattern ; kidney ; kyphoscoliosis ; mutation ; pattern of inheritance ; protein ; recessive ; short stature ; ...

451

MRI biosensors: A short primer.  

PubMed

Interest in MRI contrast agents for molecular imaging of biological function experienced a surge of excitement approximately 20 years ago with the development of the first activatable contrast agents that could act as biosensors and turn "on" in response to a specific biological activity. This brief tutorial, based on a short course lecture from the 2011 ISMRM meeting, provides an overview of underlying principles governing the design of biosensing contrast agents. We describe mechanisms by which an MRI contrast agent can be made into a sensor for both T1 and T2 types contrast agents. Examples of biological activities that can interact with a contrast agent are discussed using specific examples from the recent literature to illustrate the primary mechanisms of action that have been used to achieve activation. MRI sensors for pH, ion binding, enzyme cleavage, and oxidation-reduction are presented. This article is not meant to be an exhaustive review, but an illustrative primer to explain how activation can be achieved for an MRI contrast agent. Chemical exchange saturation transfer (CEST) is not covered as these agents were covered in a separate lecture.J. Magn. Reson. Imaging 2013;38:530-539. © 2013 Wiley Periodicals, Inc. PMID:23996662

Louie, Angelique

2013-09-01