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Sample records for short stature dr

  1. Idiopathic short stature

    Directory of Open Access Journals (Sweden)

    Vlaški Jovan

    2013-01-01

    Full Text Available Growth is a complex process and the basic characteristic of child- hood growth monitoring provides insight into the physiological and pathological events in the body. Statistically, the short stature means departure from the values of height for age and sex (in a particular environment, which is below -2 standard deviation score, or less than -2 standard deviation, i.e. below the third percentile. Advances in molecular genetics have contributed to the improvement of diagnostics in endocrinology. Analysis of patients’ genotypes should not be performed before taking a classical history, detailed clinical examination and appropriate tests. In patients with idiopathic short stature specific causes are excluded, such as growth hormone deficiency, Turner syndrome, short stature due to low birth weight, intrauterine growth retardation, small for gestational age, dysmorphology syndromes and chronic childhood diseases. The exclusion of abovementioned conditions leaves a large number of children with short stature whose etiology includes patients with genetic short stature or familial short stature and those who are low in relation to genetic potential, and who could also have some unrecognized endocrine defect. Idiopathic short stature represents a short stature of unknown cause of heterogeneous etiology, and is characterized by a normal response of growth hormone during stimulation tests (>10 ng/ml or 20 mJ/l, without other disorders, of normal body mass and length at birth. In idiopathic short stature standard deviation score rates <-2.25 (-2 to -3 or <1.2 percentile. These are also criteria for the initiation of growth hormone therapy. In children with short stature there is also the presence of psychological and social suffering. Goals of treatment with growth hormone involve achieving normal height and normal growth rate during childhood.

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

    Science.gov (United States)

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

    2013-03-01

    In this paper we outline the case for and against the treatment of idiopathic short stature with growth hormone. Drs Ambler and Fairchild argue that many of those with 'idiopathic' short stature are not 'short, normal children' and will ultimately receive molecular diagnoses. They also argue that there is a subset of children who suffer negative psychosocial consequences of their stature for whom growth hormone therapy is effective. Growth hormone has a very good safety record and is likely to be as cost-effective in idiopathic short-stature as in some other conditions that are currently funded. Dr Wilkinson counters that short stature is not associated with physical or psychological illness, and that there is no evidence that growth hormone improves psychological or physical wellbeing. Moreover, growth hormone for idiopathic short stature represents a form of enhancement rather than treatment, and is not a fair use of resources. Socially mediated disadvantage should be treated by attention to prejudice and not by hormone treatment. © 2012 The Authors. Journal of Paediatrics and Child Health © 2012 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

  3. Improved short-stature rice created by radiation-induced mutation

    International Nuclear Information System (INIS)

    1977-01-01

    A new mutant variety of rice, named Calrose 76, has recently been released to farmers in California. The mutant was the result of irradiating seeds of the rice variety Calrose with gamma rays from a cobalt-60 source. The variety is the result of co-operative research between Dr. J.N. Rutger, U.S. Department of Agriculture research geneticist at Davis, California, Prof. M.L. Peterson, University of California, and Dr. Chao-Hwa Hu, an IAEA fellow. The mutant that was ultimately released as a new variety was selected in the second generation following irradiation of the Calrose seeds. Selections were also made in a non-irradiated control population, but none proved to be desirable. After its selection in 1971, the mutant was subsequently tested for several years for agronomic performance, grain yield and quality characteristics. It was found to have the same yielding capacity as the widely grown check variety, CS-M3. It also did not differ in seedling vigour or in heading date, but its mature stem is about 35 cm shorter and less susceptible to lodging. Therefore, it yields more grain under conditions of high soil fertility. The short stature is inherited by a single recessive gene, allelic to the gene for short stature widely used in rice cultivars of the International Rice Research Institute in the Philippines (IRRI). The radiation-induced mutant has the advantage that the gene for short stature now exists in a genotype which is adapted to Californian conditions and which possesses the required cold tolerance and grain qualities. Attempts to transfer short stature from the tropical variety IR8 (produced by IRRI) have been complicated by sterility, cold susceptibility, and unacceptable grain quality. The radiation-induced mutant is used now also in crosses to confer the desired short stature to other rice varieties. (author)

  4. Improved short-stature rice created by radiation-induced mutation

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1977-06-15

    A new mutant variety of rice, named Calrose 76, has recently been released to farmers in California. The mutant was the result of irradiating seeds of the rice variety Calrose with gamma rays from a cobalt-60 source. The variety is the result of co-operative research between Dr. J.N. Rutger, U.S. Department of Agriculture research geneticist at Davis, California, Prof. M.L. Peterson, University of California, and Dr. Chao-Hwa Hu, an IAEA fellow. The mutant that was ultimately released as a new variety was selected in the second generation following irradiation of the Calrose seeds. Selections were also made in a non-irradiated control population, but none proved to be desirable. After its selection in 1971, the mutant was subsequently tested for several years for agronomic performance, grain yield and quality characteristics. It was found to have the same yielding capacity as the widely grown check variety, CS-M3. It also did not differ in seedling vigour or in heading date, but its mature stem is about 35 cm shorter and less susceptible to lodging. Therefore, it yields more grain under conditions of high soil fertility. The short stature is inherited by a single recessive gene, allelic to the gene for short stature widely used in rice cultivars of the International Rice Research Institute in the Philippines (IRRI). The radiation-induced mutant has the advantage that the gene for short stature now exists in a genotype which is adapted to Californian conditions and which possesses the required cold tolerance and grain qualities. Attempts to transfer short stature from the tropical variety IR8 (produced by IRRI) have been complicated by sterility, cold susceptibility, and unacceptable grain quality. The radiation-induced mutant is used now also in crosses to confer the desired short stature to other rice varieties. (author)

  5. Imaging in short stature.

    Science.gov (United States)

    Chaudhary, Vikas; Bano, Shahina

    2012-09-01

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

  6. Imaging in short stature

    Directory of Open Access Journals (Sweden)

    Vikas Chaudhary

    2012-01-01

    Full Text Available 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.

  7. Imaging in short stature

    OpenAIRE

    Vikas Chaudhary; Shahina Bano

    2012-01-01

    Short stature can be a sign of disease, disability, and social stigma causing psychological stress. It is important to have an early diagnosis and treatment. Short stature may result from skeletal dysplasias, endocrine disorders, may be familial, or may be the result of malnutrition and chronic illnesses. A team effort of the healthcare professionals like pediatricians, endocrinologists, radiologists, and pathologists is required to diagnose, treat and monitor various pathological conditions ...

  8. Leri-Weill dyschondrosteosis: An under-recognised cause of short stature

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    E G Lemire

    2009-03-01

    Full Text Available Short stature is a frequent presenting problem in the pediatric population. Various causes including endocrinopathies, skeletal dysplasias, dysmorphic syndromes and malabsorption have been implicated. In girls with short stature, Turner syndrome is frequently considered in the differential diagnosis and can easily be ruled out with chromosome analysis. However, it is not uncommon for a child to have no identifiable cause of their short stature. ?FOR Advances in the field of genetics have estimated that about 2% of idiopathic short stature is related to haploinsufficiency of the Short stature homeobox (SHOX gene, which is found on the short arm of the X and Y chromosomes in the pseudoautosomal region. Heterozygous carriers of SHOX mutations may be minimally affected or may present with disproportionate short stature, Madelung deformity and other radiographic findings as in Leri-Weill dyschondrosteosis (LWD. In this article, we report on a 14-year old girl with mesomelic short stature and bilateral Madelung deformities caused by LWD and describe the radiographic findings.

  9. Etiology of short stature in children

    International Nuclear Information System (INIS)

    Sultan, M.; Afzal, M.; Ali, S.

    2008-01-01

    To determine the causes of short stature in children with special emphasis on growth hormone deficiency. Two hundred and fourteen children (140 boys and 74 girls), ranging from 02 to 15 years presenting with short stature were studied. Height and weight were plotted on appropriate growth charts and centiles determined. Relevant hematological and biochemical investigations including thyroid profile were done. Bone age was determined in all cases. Growth hormone axis was investigated after excluding other causes. Karyotyping was done in selected cases. Data was analyzed by SPSS 10.0 by descriptive statistics. Mean values were compared using t-test. In this study, the five most common etiological factors in order of frequency were Constitutional Growth Delay (CGD), Familial Short Stature (FSS), malnutrition, coeliac disease and Growth Hormone Deficiency (GHD). In 37.4% of patients, the study revealed normal variants of growth - CGD, FSS or combination of both, 46.7% cases had nonendocrinological and 15.9% had endocrinological etiology. CGD (22.1%) in males and FSS (27%) in females were the most common etiology. GHD was found in 6.1% children and it comprised 38.2% of all endocrinological causes. Children with height falling below 0.4th centile were more likely to have a pathological short stature (79.2%) compared to 39.3% whose height was below 3rd centile but above 0.4th centile (p<0.05). CGD and FSS are most common causes of short stature in boys and girls respectively, whereas, GHD is a relatively uncommon etiology. (author)

  10. Growing up with short stature : Psychosocial consequences of hormone treatment

    NARCIS (Netherlands)

    Visser-van Balen, J.

    2007-01-01

    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

  11. Hypogonadotrophic short statured with anosmia: kallmann's syndrome

    International Nuclear Information System (INIS)

    Tarique, S.; Abaidullah, S.; Cheema, T.M.; Iqbal, M.H.

    2010-01-01

    Short stature with loss of secondary sex characters can occur due to genetic disorders. One of them is Kallmann's syndrome. The condition has been noted to be present in families. It is associated with anosmia and hypogonadism. We are presenting a case of young boy who was short statured and had anosmia with multiple hormonal deficiencies. (author)

  12. Short Stature

    DEFF Research Database (Denmark)

    Christesen, Henrik Boye Thybo; Pedersen, Birgitte Tønnes; Pournara, Effie

    2016-01-01

    -scale, non-interventional, multinational study. The patient cohort consisted of 5996 short pediatric patients diagnosed with growth hormone deficiency (GHD), Turner syndrome (TS) or born small for gestational age (SGA). The proportions of children with baseline height standard deviation score (SDS) below......The use of appropriate growth standards/references is of significant clinical importance in assessing the height of children with short stature as it may determine eligibility for appropriate therapy. The aim of this study was to determine the impact of using World Health Organization (WHO) instead...... of national growth standards/references on height assessment in short children. Data were collected from routine clinical practice (1998-2014) from nine European countries that have available national growth references and were enrolled in NordiNet® International Outcome Study (IOS) (NCT00960128), a large...

  13. Short Stature Diagnosis and Referral

    Directory of Open Access Journals (Sweden)

    Mohamad Maghnie

    2018-01-01

    Full Text Available The “360° GH in Europe” meeting, which examined various aspects of GH diseases, was held in Lisbon, Portugal, in June 2016. The Merck KGaA (Germany funded meeting comprised three sessions entitled “Short Stature Diagnosis and Referral,” “Optimizing Patient Management,” and “Managing Transition.” Each session had three speaker presentations, followed by a discussion period, and is reported as a manuscript, authored by the speakers. The first session examined current processes of diagnosis and referral by endocrine specialists for pediatric patients with short stature. Requirements for referral vary widely, by country and by patient characteristics such as age. A balance must be made to ensure eligible patients get referred while healthcare systems are not over-burdened by excessive referrals. Late referral and diagnosis of non-GH deficiency conditions can result in increased morbidity and mortality. The consequent delays in making a diagnosis may compromise the effectiveness of GH treatment. Algorithms for growth monitoring and evaluation of skeletal disproportions can improve identification of non-GH deficiency conditions. Performance and validation of guidelines for diagnosis of GH deficiency have not been sufficiently tested. Provocative tests for investigation of GH deficiency remain equivocal, with insufficient information on variations due to patient characteristics, and cutoff values for definition differ not only by country but also by the assay used. When referring and diagnosing causes of short stature in pediatric patients, clinicians need to rely on many factors, but the most essential is clinical experience.

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

    Science.gov (United States)

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

    2010-12-01

    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.

  15. Diagnostic Accuracy of Growth Rate in Differentiating Etiologies of Short Stature in Children

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    Mohammad Reza Alaei

    2016-08-01

    Full Text Available Background  Short stature is a manifestation of a wide variety of conditions that some of which may be amenable to timely treatment and a suboptimal growth rate may be an early marker pointing to the cause of growth retardation. This study was conducted to evaluate the diagnostic utility of growth rate in differential diagnosis of children with short stature. Materials and Methods All children between the ages of 2 and 18 years who visited in pediatric endocrinology clinic in a five years period were recruited in a prospective cohort study. Children with standing height Results One hundred forty three patients fulfilled the inclusion criteria. Mean follow up period was 14.4±10.9 months. Etiologies of short stature were: constitutional growth delay (CGD 46.9%, familial short stature (FSS 28.7%, hypothyroidism 4.2%, growth hormone deficiency (GHD 4.2% and miscellaneous causes in 16% of patients.  Mean Z- score for children with constitutional growth delay was -2.3±0.69, in familial short stature was -2.3±0.65 and for other condition was -2.7±1.49. There was a meaningful statistical correlation between growth rate and etiology of short stature (P0.05. Conclusion There was significant difference in growth rate between children with constitutional growth delay and familial short stature in comparing to short stature due to endocrine problem and other etiologies. Assessment of growth rate has some utility in diagnosing the etiology of short stature.

  16. Ghrelin plasma levels in patients with idiopathic short stature.

    Science.gov (United States)

    Iñiguez, Germán; Román, Rossana; Youlton, Ronald; Cassorla, Fernando; Mericq, Verónica

    2011-02-01

    Novel molecular insights have suggested that ghrelin may be involved in the pathogenesis of some forms of short stature. Recently, growth hormone secretagogue receptor (GHSR) mutations that segregate with short stature have been reported. To study plasma ghrelin levels in prepubertal patients with idiopathic short stature (ISS). Fasting total plasma ghrelin levels (radioimmunoassay) in 41 prepubertal patients with ISS (18 females, age 7.9 ± 0.5 years) compared with 42 age- and sex-matched controls (27 females, age 8.0 ± 0.3 years) with normal height. In a subset of 28 patients, the ghrelin receptor was sequenced. ISS patients exhibited a higher level of ghrelin (1,458 ± 137 vs. 935 ± 55 pg/ml, p ghrelin levels greater than +2 SDS compared to controls. These patients did not differ in height, BMI or IGF-I SDS compared to ISS patients with ghrelin levels within the normal range. Molecular analysis of GHSR did not show any mutations, but showed some polymorphisms. These results suggest that in ISS patients, short stature does not appear to be frequently caused by abnormalities in ghrelin signaling. Copyright © 2010 S. Karger AG, Basel.

  17. Frequency of short stature in - thalassemia major patients

    International Nuclear Information System (INIS)

    Aslam, M.S.; Roshan, E.; Shahid, M.

    2013-01-01

    Objective: To determine the frequency of short stature in children with - thalassemia major receiving multiple transfusions at Military Hospital Rawalpindi. Study Design: Descriptive cross sectional study. Place and Duration of Study: Study was conducted at Military Hospital from 1st January 2010 to 30th June 2010. Subjects and Methods: Total 100 multi-transfused cases of - thalassemia major were included in the study. The height of every child was measured in centimeters using the same free-standing standard stadiometer, and the same technique by a single pediatrician. Results: Out of 100 patients of - thalassemia major 57.0% (n=57) were male while 43% (n=43) were female. Mean age was 9.94 years (SD +- 2.93) with range of 6 to 14 years. Mean height was 115.77 cm (SD +- 13.79) with range of 72.00 to 148.00 cm. 57.0% (n=57) were found to be short statured while 43.0% (n=43) were with normal height. Mean age of short statured patients was 11.61 +- 2.34 years and mean age of patients with normal height was 7.73 +- 2.05 years. Conclusion: The frequency of short stature in our patients with - thalassemia major receiving multiple transfusions is high. There is need to monitor the height of thalassemic children regularly and to improve the quality of care being provided to them so as to improve their quality of life. (author)

  18. STUDY OF CLINICAL PROFILE OF PATIENTS WITH SHORT STATURE VISITING A TERTIARY CARE HOSPITAL

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    Arun Kumar Choudhury

    2016-07-01

    Full Text Available BACKGROUND Short stature is one of the common causes of referral of children to endocrine unit. It may result due to various causes and elucidating the exact cause is necessary to formulate the right therapy. OBJECTIVE To study the various aetiologies and clinical presentation of patients presenting with short to a tertiary care hospital. DESIGN Cross sectional study MATERIAL AND METHODS We collected and analysed the clinical, biochemical, radiological and hormonal data of 104 consecutive patients who presented to our department from January 2015 to March 2016 for evaluation of short stature. RESULTS Majority of the subjects studied belonged to 10-15 years group (44.23% followed by 5-10 years age group (31.73%. The most common cause in our population was due to familial short stature (29.80%. The next common causes included chronic medical illness (23.08% followed by hypothyroidism (13.46%. Majority of patients presenting for evaluation of short stature were males (60.58%. CONCLUSIONS Short stature is caused due to a multitude of causes. In our population, familial short stature was the most common aetiology

  19. A rare cause of short stature: transsphenoidal encephalocele.

    Science.gov (United States)

    Bayram, Özhan; Sebahat, Ağladıoğlu Yılmaz; Kadir, Ağladıoğlu; Ali, Koçyiğit

    2014-12-01

    Basal encephaloceles are rare, accounting for about 1.5% of all encephaloceles. Transsphenoidal encephaloceles represent less than 5% of basal encephaloceles. Respiratory and feeding difficulties due to mass effect in the oral or nasal cavity and episodes of recurrent meningitis are the main clinical features. Diagnosis is established in the first year of life, but without characteristic facies, the diagnosis can be delayed to adolescence or adulthood. We report the case of a 10-year-old boy who presented with short stature and eventually was diagnosed with a growth hormone deficiency because of mass effect of transsphenoidal encephalocele. Unusual presentation of an encephalocele as a short stature is described.

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

    Science.gov (United States)

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

    2012-01-01

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

  1. A rare case of short stature: Say Meyer syndrome

    OpenAIRE

    Karthik, T. S.; Prasad, N. Rajendra; Rani, P. Radha; Maheshwari, Rushikesh; Reddy, P. Amaresh; Chakradhar, B. V. S.; Menon, Bindu

    2013-01-01

    Introduction: Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. We are reporting a case of Say Meyer syndrome presented to our hospital for short stature and developmental delay at age 3½ years. Case Report: A 3½-year-old boy presented to our hospital for decreased growth velocity from the age of 1 year. History revealed the boy had a birth weight of 2.3 kg, had an episode of seizures in the neonatal period. He was...

  2. Metacarpal index in short stature before and during growth hormone treatment

    OpenAIRE

    Bettendorf, M.; Graf, K.; Nelle, M.; Heinrich, U.; Troger, J.

    1998-01-01

    AIMS—To 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 hormone deficiency.
SUBJECTS—124 children, including 65 children with short sta...

  3. Isolated short stature as a presentation of celiac disease in Saudi children

    Directory of Open Access Journals (Sweden)

    Asaad Mohamed Assiri

    2010-06-01

    Full Text Available The aim of this study is to assess the prevalence of isolated short stature as a clinical presentation of celiac disease in Saudi Arab children and whether some of the routine labora-tory tests performed to determine the cause of short stature could suggest the diagnosis of celiac disease. A total of 91 children with short stature were included in the study. Extensive endocrine and biochemical assessments, including total protein, serum albumin, calcium phosphate and alkaline phosphatase assays; renal function tests; coagulation profile; anti-endomysial antibodies and anti-tissue transglutaminase antibody, growth hormone, thyroid stimulating hormone, free-thyroxin (FT4 assays; stool tests for giardiasis; bone age; and endoscopic intestinal biopsies, were done for all children. Ten of the 91 children had positive intestinal biopsies in the form of total villous atrophy, an increase in crypt height, and an increase in intra-epithelial lymphocyte (IEL numbers up to >40 IEL/100 EC (Type 3C according to the Oberhuber classification, confirming the diagnosis of celiac disease. Five children had mild villous atrophy according to this classification (Type 3A, and they were considered to have potential celiac disease. Seventy-six children had normal intestinal biopsies. Therefore, the prevalence of celiac disease among Saudi children with short stature was 10.9%, and 4.3% of the children were diagnosed as having potential celiac disease. After confirming the diagnosis of celiac disease, all children were kept on a gluten-free diet and all of them showed improvement in their growth rate. We concluded that celiac disease is a very important cause of short stature in children without gastrointestinal complaints in Saudi Arabia. We highly recommend anti-tissue transglutaminase and anti-endomysial antibody screening tests, and a small bowel biopsy to confirm the diagnosis of celiac disease irrespective of the results of the antibody assays, in children with

  4. De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.

    Science.gov (United States)

    Yu, Yongguo; Yao, RuEn; Wang, Lili; Fan, Yanjie; Huang, Xiaodong; Hirschhorn, Joel; Dauber, Andrew; Shen, Yiping

    2015-09-16

    Human height is a complex trait with a strong genetic basis. Recently, a significant association between rare copy number variations (CNVs) and short stature has been identified, and candidate genes in these rare CNVs are being explored. This study aims to evaluate the association between mutations in ARID1B gene and short stature, both the syndromic and non-syndromic form. Based on a case-control study of whole genome chromosome microarray analysis (CMA), three overlapping CNVs were identified in patients with developmental disorders who exhibited short stature. ARID1B, a causal gene for Coffin Siris syndrome, is the only gene encompassed by all three CNVs. A following retrospective genotype-phenotype analysis based on a literature review confirmed that short stature is a frequent feature in those Coffin-Siris syndrome patients with ARID1B mutations. Mutation screening of ARID1B coding regions was further conducted in a cohort of 48 non-syndromic short stature patients,andfour novel missense variants including two de novo mutations were found. These results suggest that haploinsufficient mutations of ARID1B are associated with syndromic short stature including Coffin-Siris syndrome and intellectual disability, while rare missense variants in ARID1B are associated with non-syndromic short stature. This study supports the notion that mutations in genes related to syndromic short stature may exert milder effect and contribute to short stature in the general population.

  5. Endocrinological Assessment Of Children With Significant Short Stature Using Radioimmunoassay Techniques

    International Nuclear Information System (INIS)

    Ghaly, Isis; Hafez, Mona; Shousha, M. A.

    2004-01-01

    This study was undertaken to determine the prevalence of clinical diagnosis in a group of children with significant short stature, height <-2.5 standard deviation below the mean for age and sex. Forty-nine children-l 8 female and 31 males-were included, mean age was 11.14 yr. (range 1.18 to 19 yr.). Clinical diagnosis, axiological measurements, thyroid profile, growth hormone, autoantibody screening for celiac disease were assessed. The patients were classified into 5 groups: Group I. familial short stature (FSS)and constitutional delay in growth and puberty (CDGP), (12%); group II. growth hormone deficiency (GHD), 54%; group III. Laron type of dwarfism (LTD) (10%); group IV. growth hormone neurosecretory disorder (GHND, 16%); group V. celiac disease (GSE, 8%). From this study the group with short normal variant (FSS-CDGP), uncommonly presents with significant short stature. Cranial CT scan should performed in any child with the diagnosis of GHD to exclude organic causes of GHD. In the group of GHND, a normal GH values to provocative tests does not guarantee sufficient GH secretion and should not be used to exclude these children from hGH treatment. Further investigations by measurement of integrated GH and IGFI may aid in the diagnosis of this disorder. Celiac disease may present only by short stature, therefore antibody screening tests should be a routine investigation for all children presented with unexplained short stature. Patient with GHD showed significant improvement of their GV SDS during treatment with hGH (p=0.021). Also children with GSE showed significant catch up growth after gluten withdrawal from the diet (p=0.029). (Authors)

  6. Magnetic resonance and the diagnosis of short stature of hypothalamic-hypophyseal origin

    International Nuclear Information System (INIS)

    Vannelli, S.; Avataneo, T.; Benso, L.; Potenzoni, F.; Cirillo, S.; Mostert, M.; Bona, G.

    1993-01-01

    Magnetic resonance imaging was performed in 23 patients with short stature (7 had multiple pituitary hormone defect, 11 had isolated growth hormone deficiency and 5 had normal variant short stature) to investigate if there is a relation between magnetic resonance findings and results of endocrine tests. Magnetic resonance imaging of patients with multiple pituitary hormone deficiency or with serious isolated growth hormone deficiency (growth hormone 3μg/l) or with normal variant short stature, the technique revealed a normal or hypoplastic hypophysis. Magnetic resonance appears to be a useful second-level diagnostic tool in defining the type of alteration in growth defects of endocrine origin. 26 refs., 5 figs., 2 tabs

  7. A rare case of short stature: Say Meyer syndrome.

    Science.gov (United States)

    Karthik, T S; Prasad, N Rajendra; Rani, P Radha; Maheshwari, Rushikesh; Reddy, P Amaresh; Chakradhar, B V S; Menon, Bindu

    2013-10-01

    Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. We are reporting a case of Say Meyer syndrome presented to our hospital for short stature and developmental delay at age 3½ years. A 3½-year-old boy presented to our hospital for decreased growth velocity from the age of 1 year. History revealed the boy had a birth weight of 2.3 kg, had an episode of seizures in the neonatal period. He was born to non-consanguineous marriage. He had global developmental delay and there was a lack of bowel and bladder control. History did not reveal any hearing or visual impairment. No history of any chronic systemic illnesses. Magnetic resonance imaging (MRI) brain revealed mild diffuse frontotemporal atrophy with multiple irregular gliotic areas in bilateral frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres. Diffuse thinning of corpus callosum. Diffuse periventricular hyper intensity on T2W and fluid attenuated inversion recovery sequences. Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. Characteristic MRI brain findings include diffuse frontotemporal atrophy with multiple gliotic areas in frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres.

  8. A rare case of short stature: Say Meyer syndrome

    Directory of Open Access Journals (Sweden)

    T S Karthik

    2013-01-01

    Full Text Available Introduction: Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. We are reporting a case of Say Meyer syndrome presented to our hospital for short stature and developmental delay at age 3½ years. Case Report: A 3½-year-old boy presented to our hospital for decreased growth velocity from the age of 1 year. History revealed the boy had a birth weight of 2.3 kg, had an episode of seizures in the neonatal period. He was born to non-consanguineous marriage. He had global developmental delay and there was a lack of bowel and bladder control. History did not reveal any hearing or visual impairment. No history of any chronic systemic illnesses. Magnetic resonance imaging (MRI brain revealed mild diffuse frontotemporal atrophy with multiple irregular gliotic areas in bilateral frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres. Diffuse thinning of corpus callosum. Diffuse periventricular hyper intensity on T2W and fluid attenuated inversion recovery sequences. Conclusion: Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. Characteristic MRI brain findings include diffuse frontotemporal atrophy with multiple gliotic areas in frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres.

  9. Screening of SHOX gene sequence variants in Saudi Arabian children with idiopathic short stature.

    Science.gov (United States)

    Alharthi, Abdulla A; El-Hallous, Ehab I; Talaat, Iman M; Alghamdi, Hamed A; Almalki, Matar I; Gaber, Ahmed

    2017-10-01

    Short stature affects approximately 2%-3% of children, representing one of the most frequent disorders for which clinical attention is sought during childhood. Despite assumed genetic heterogeneity, mutations or deletions in the short stature homeobox-containing gene ( SHOX ) are frequently detected in subjects with short stature. Idiopathic short stature (ISS) refers to patients with short stature for various unknown reasons. The goal of this study was to screen all the exons of SHOX to identify related mutations. We screened all the exons of SHOX for mutations analysis in 105 ISS children patients (57 girls and 48 boys) living in Taif governorate, KSA using a direct DNA sequencing method. Height, arm span, and sitting height were recorded, and subischial leg length was calculated. A total of 30 of 105 ISS patients (28%) contained six polymorphic variants in exons 1, 2, 4, and 6. One mutation was found in the DNA domain binding region of exon 4. Three of these polymorphic variants were novel, while the others were reported previously. There were no significant differences in anthropometric measures in ISS patients with and without identifiable polymorphic variants in SHOX . In Saudi Arabia ISS patients, rather than SHOX , it is possible that new genes are involved in longitudinal growth. Additional molecular analysis is required to diagnose and understand the etiology of this disease.

  10. [Short stature in children of Karapotó ethnic background, São Sebastião, Alagoas, Brazil].

    Science.gov (United States)

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

    2016-06-01

    To describe the prevalence of short stature among children of Karapotó ethnic background. Cross-sectional, population-based study that included children between 6 and 59 months of age from the Plak-Ô native village and the Terra Nova settlement, São Sebastião, Alagoas, carried out between 2008 and 2009. Short stature was evaluated by the Height/Age index, using as cutoff z score ≤-2. The prevalence of short stature was determined by comparing simple and relative frequencies. The population growth curves were compared to the WHO reference curves. Data analysis included the outcome variable: Height/Age and the predictor variables: place of residence, gender, age, anemia, birth weight, family income, maternal literacy. The chi-square test was used to compare the categorical variables, whereas the chi-square test with Yates correction was used for dichotomous variables, considering as statistically significant p-values≤0.05. The prevalence of short stature was 15.6% for children from the Terra Nova settlement and 9.1% for those from Plak-Ô native village. The prevalence of short stature among the Karapotó ethnicity was 13.4%. The variables: maternal literacy, family income and low birth weight were statistically associated with short stature. The observed short stature prevalence rates are significant, being characterized as a public health problem. Among the associated factors, the following are noteworthy: unfavorable conditions of maternal literacy, family income and low birth weight. The planning of strategies to reverse the situation must take such factors into consideration. Copyright © 2015 Sociedade de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.

  11. IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy.

    Science.gov (United States)

    Vasques, Gabriela A; Funari, Mariana F A; Ferreira, Frederico M; Aza-Carmona, Miriam; Sentchordi-Montané, Lucia; Barraza-García, Jimena; Lerario, Antonio M; Yamamoto, Guilherme L; Naslavsky, Michel S; Duarte, Yeda A O; Bertola, Debora R; Heath, Karen E; Jorge, Alexander A L

    2018-02-01

    Genetic evaluation has been recognized as an important tool to elucidate the causes of growth disorders. To investigate the cause of short stature and to determine the phenotype of patients with IHH mutations, including the response to recombinant human growth hormone (rhGH) therapy. We studied 17 families with autosomal-dominant short stature by using whole exome sequencing and screened IHH defects in 290 patients with growth disorders. Molecular analyses were performed to evaluate the potential impact of N-terminal IHH variants. We identified 10 pathogenic or possibly pathogenic variants in IHH, an important regulator of endochondral ossification. Molecular analyses revealed a smaller potential energy of mutated IHH molecules. The allele frequency of rare, predicted to be deleterious IHH variants found in short-stature samples (1.6%) was higher than that observed in two control cohorts (0.017% and 0.08%; P IHH variants segregate with short stature in a dominant inheritance pattern. Affected individuals typically manifest mild disproportional short stature with a frequent finding of shortening of the middle phalanx of the fifth finger. None of them have classic features of brachydactyly type A1, which was previously associated with IHH mutations. Five patients heterozygous for IHH variants had a good response to rhGH therapy. The mean change in height standard deviation score in 1 year was 0.6. Our study demonstrated the association of pathogenic variants in IHH with short stature with nonspecific skeletal abnormalities and established a frequent cause of growth disorder, with a preliminary good response to rhGH. Copyright © 2017 Endocrine Society

  12. Acquired alopecia, mental retardation, short stature, microcephaly, and optic atrophy

    NARCIS (Netherlands)

    Hennekam, R. C.; Renckens-Wennen, E. G.

    1990-01-01

    We report on a female patient who had acquired total alopecia, short stature, microcephaly, optic atrophy, severe myopia, and mental retardation. A survey of published reports failed to show an identical patient, despite various similar cases

  13. Orphan disease: Cherubism, optic atrophy, and short stature.

    Science.gov (United States)

    Jeevanandham, Balaji; Ramachandran, Rajoo; Dhanapal, Vignesh; Subramanian, Ilanchezhian; Sai, Venkata

    2018-01-01

    A 12-year-old female presented with complaints of progressive visual impairment in both her eyes. On clinical examination, she was short for her age and her ophthalmoscopic examination revealed bilateral optic atrophy. Computed tomography of the patient revealed multiple expansile lytic lesions of mandible suggesting cherubism. The optic atrophy was confirmed on magnetic resonance imaging, which additionally revealed bilateral retrocerebellar arachnoid cysts. This association of cherubism with optic atrophy and short stature was grouped as orphan disease by National Institutes of Health and only one case was reported in the literature so far.

  14. Genetic evaluation of proportionate short stature in Alexandria, Egypt

    African Journals Online (AJOL)

    Introduction: Compared with a genetically relevant population, short stature (ss) is defined as a standing height more than 2 standard deviations below the mean (or below the third percentile) for gender. SS is a common problem for children and adolescents worldwide. The Aim: This study was conducted to reveal the ...

  15. Short stature and hypothyroidism in a child with Nail-Patella Syndrome. A case report.

    Science.gov (United States)

    Goecke, C; Mellado, C; García, C; García, H

    2018-02-01

    Nail-Patella syndrome (NPS) (OMIM: 161200) or hereditary onycho-osteodysplasia is an autosomal dominant disorder characterized by skeletal anomalies, nail dysplasia, renal and ocular abnor malities. The diagnosis is based on clinical and radiological findings and confirmed by the identification of a heterozygous pathogenic variant in the LMX1B gene. Management of these patients involves conti nuous follow-up and treatment ofthe orthopedical, ocular and renal problems that mayoccur. To describe a case of NPS with short stature and hypothyroidism, an association that has not been described in the literature. An eleven-year-old boy with a height of 130 cm (-2.01 Stan dard Deviations [SD]) was referred to the Endocrine Unit at the age of 2 years due to altered thyroid tests. At that time, dysplastic nails and disproportionate short stature were detected. Radiological abnormalities initially suggested a skeletal dysplasia. A primary hypothyroidism was confirmed, without anti-thyroid antibodies and with a normal thyroid ultrasound. Levothyroxine treatment was initiated. The diagnosis of NPS was confirmed by a genetic study with a single pathogenic variant in the LMX1B gene. His father presented a similar phenotype with normal stature. His bone age was equivalent to his chronological age. Laboratory screening for short stature and a GH stimulation test were normal. We present a child with proven NPS with short stature and hypothyroi dism. We did not find publications that described this triple association. It can't be ruled out that there could be a relationship between NPS and the thyroid alterations found in this patient.

  16. Maternal short stature: A risk factor for low birth weight in neonates

    Directory of Open Access Journals (Sweden)

    Vipin Chandra Kamathi

    2012-08-01

    Full Text Available Low birth weight (LBW is the most common cause of perinatal mortality, causing almost 30 percent of neonatal deaths. On the other hand, maternal short stature is known to cause a lot of obstetric complications like cephalopelvic disproportion and arrest of labor, intrauterine asphyxia, intrauterine growth retardation. The objective of our study was to find out whether there was any significant statistical association between maternal height and the birth weight of the neonate. We identified a group of low birth weight neonates (n=54 and a control group (n=51 of normal weight neonates at term in Mediciti Hospital over a period of 1 year and retrospectively looked the maternal heights for both groups. Inclusion criteria being mothers who delivered at term, mothers who had a hemoglobin level more than 10 gm/dl, mothers with relatively uneventful antenatal without any significant obstetric or medical complications during the pregnancy, and neonates with relatively uneventful post-natal periods without any significant pediatric or medical complications. The odds of having been born of a mother of short stature are more than three times greater for a low birth weight baby than a normal weight baby. The mean of birth weights of babies born to mothers of normal height is more than the mean of birth weights of babies born to mothers of short stature by 277.01 gm. This study reaffirms the observation that maternal height has a direct effect on the weight of the newborn and we propose that maternal short stature be identified as an independent risk factor for low birth weight.

  17. GROWTH HORMONE TREATMENT OF CHILDREN WITH SHORT STATURE LIVED IN SAMARA REGION

    Directory of Open Access Journals (Sweden)

    E.G. Mikhailova

    2009-01-01

    Full Text Available Growth inhibition in children is heterogeneous state, and it may accompany many endocrine, somatic, genetic and chromosome diseases. Generally recognized medications for treatment of somatotropic insufficiency in present times are biosynthetic analogs of human growth hormone (hGH, obtained with DNA-recombinant technology. This article presents the results of estimation of effectiveness of hGH in treatment of children with short stature (n=77 with isolated deficiency of growth hormone, panhypopituitarism, Turner's syndrome, treated with hGH during 3 years. All patients had significant positive dynamics of clinical status, the velocity of grouth increased from 1.9 cm (initial per year to 11.0 cm (the end of first year, with following decrease to 5.3 cm per year. SDS index of growth had stable tendency to increase: medium SDS index of growth initially was -3.9 SD, on the end of third year – -2.0 SD. It was shown, that treatment with hGH is effective in any types of short stature.Key words: children, short stature, treatment, human growth hormone.(Voprosy sovremennoi pediatrii — Current Pediatrics. 2009;8(1:108-113

  18. Measuring agreement between cervical vertebrae and hand-wrist maturation in determining skeletal age: reassessing the theory in patients with short stature.

    Science.gov (United States)

    Danaei, Shahla Momeni; Karamifar, Amirali; Sardarian, Ahmadreza; Shahidi, Shoaleh; Karamifar, Hamdollah; Alipour, Abbas; Ghodsi Boushehri, Sahar

    2014-09-01

    The objective of this study was to determine the degree of agreement between hand-wrist radiography and cervical vertebral maturation analysis in patients diagnosed with short stature. A cross-sectional study was designed; 178 patients (90 girls, 88 boys) diagnosed with short stature and seeking treatment were selected. The patients were divided into 2 groups (76 with familial short stature, 102 with nonfamilial short stature). Hand-wrist and lateral cephalometric radiographs were obtained from the patients. The hand-wrist radiographs were analyzed using the Fishman method, and the lateral cephalometric views were categorized according to the method of Hassel and Farman. The degree of agreement between the 2 methods of predicting skeletal maturation was measured by calculating the contingency coefficient and the weighted kappa statistic. A high degree of agreement was observed between the 2 methods of analyzing skeletal maturation. It was also observed that agreement was higher in girls in the familial short-stature group, whereas boys had higher agreement in the nonfamilial short-stature group. Cervical vertebral maturation can be a valuable substitute for hand-wrist radiography in patients with short stature. Copyright © 2014 American Association of Orthodontists. Published by Elsevier Inc. All rights reserved.

  19. Orphan disease: Cherubism, optic atrophy, and short stature

    Directory of Open Access Journals (Sweden)

    Balaji Jeevanandham

    2018-01-01

    Full Text Available A 12-year-old female presented with complaints of progressive visual impairment in both her eyes. On clinical examination, she was short for her age and her ophthalmoscopic examination revealed bilateral optic atrophy. Computed tomography of the patient revealed multiple expansile lytic lesions of mandible suggesting cherubism. The optic atrophy was confirmed on magnetic resonance imaging, which additionally revealed bilateral retrocerebellar arachnoid cysts. This association of cherubism with optic atrophy and short stature was grouped as orphan disease by National Institutes of Health and only one case was reported in the literature so far.

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

    Directory of Open Access Journals (Sweden)

    Varsha S Jagtap

    2012-01-01

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

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

    Science.gov (United States)

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

    2012-01-01

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

  2. MRI features of growth hormone deficiency in children with short stature caused by pituitary lesions

    OpenAIRE

    Xu, Chao; Zhang, Xinxian; Dong, Lina; Zhu, Bin; Xin, Tao

    2017-01-01

    We verified the advantages of using magnetic resonance imaging (MRI) for improving the diagnostic quality of growth hormone deficiency (GHD) in children with short stature caused by pituitary lesions. Clinical data obtained from 577 GHD patients with short stature caused by pituitary lesions were retrospectively analyzed. There were 354 cases (61.3%) with anterior pituitary dysplasia; 45 cases (7.8%) of pituitary stalk interruption syndrome (PSIS); 15 cases (2.6%) of pituitary hyperplasia due...

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

    Directory of Open Access Journals (Sweden)

    Chin-Yun Pan

    2013-12-01

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

  4. 45,X/47,XXX Mosaicism and Short Stature.

    Science.gov (United States)

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

    2015-01-01

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

  5. Prevalence of SHOX Haploinsufficiency among Short Statured Children

    DEFF Research Database (Denmark)

    Marstrand-Joergensen, Maja Rou; Beck Jensen, Rikke; Aksglaede, Lise

    2017-01-01

    were recorded for patients with SHOX haploinsufficiency. RESULTS: Thirty-two patients were excluded due to Turner syndrome (n=28), SRY-positive 46,XX male karyotype (n=1), or lacked clinical follow-up information (n=3).The prevalence of SHOX haploinsufficiency was nine out of 542 (1.7%). The nine......=0.046, after one year of GH treatment. CONCLUSION: The prevalence of SHOX haploinsufficiency was 1.7%. The clinical findings indicating SHOX haploinsufficiency among the nine children were disproportionate short stature and forearm anomalies....

  6. Pituitary stalk interruption syndrome presenting as short stature: a case report.

    Science.gov (United States)

    Ram, Nanik; Ali, Syed Ahsan; Hussain, Syed Zubair

    2014-12-19

    Pituitary stalk interruption syndrome is a rare congenital abnormality of the pituitary that is responsible for anterior pituitary deficiency. It is characterized by a classic triad of interrupted pituitary stalk, absent or ectopic posterior pituitary, and anterior pituitary hypoplasia or aplasia. Clinical presentation varies according to age. In adults it presents as short stature and anterior pituitary deficiency. Without early diagnosis and treatment, mortality and morbidity in these patients is high. Early diagnosis and treatment of this rare disease can prevent permanent short statue of the patient. We report the first case of pituitary stalk interruption syndrome from Pakistan. A 17-year-old Pakistani young man presented with short stature and underdeveloped secondary sexual characters. His siblings and parents were healthy, with normal height. An examination showed his blood pressure was 90/60 mmHg, and his height, weight, and body mass index were 142 cm, 34.5 kg, and 17.10 kg/m2, respectively. He had no hair growth on his face, axilla, or pubis. His testes were between 1 and 2 mL in size, with a 4 cm-at-stretch micropenis. His lab investigations showed that his thyroid stimulating hormone (TSH) was 8.58 uIU/mL (0.4 to 4.2), his free thyroid hormone level FT4 was 0.46 ng/dL (0.89 to 1.76), his prolactin was 21.1 ng/mL (3.0 to 14.7), and his baseline cortisol was 0.30 ug/dL (4.3 to 22.4). His cortisol level after 60 minutes of cosyntropin injection was 3.5 ug/dL (4.3 to 22.4), his insulin like growth factor IGF-1 was 31.56 ng/mL (247.3 to 481.7), his testosterone level was under 2.5 ng/dL (2 to 800), his follicle stimulating hormone FSH was 0.41 uIU/mL (0.0 to 10.0), and his leutinizing hormone LH was under 0.1 uIU/mL (1.2 to 7.8). His bone age was 10 years according to the Greulich and Pyle method, as shown by X-rays. The results from his pituitary magnetic resonance imaging scan were consistent with pituitary stalk interruption syndrome. We describe a young

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

    Science.gov (United States)

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

    2016-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Jun-Won Hwang

    2015-06-01

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

  9. Waist-to-Height Gain and Triiodothyronine Concentrations in a Cohort of Socially Vulnerable Short-Stature Women: A Four-Year Follow-Up Study.

    Science.gov (United States)

    Florêncio, Telma M M T; Bueno, Nassib B; Britto, Revilane A P; Albuquerque, Fabiana C A; Lins, Isabela L L; Sawaya, Ana L

    2016-01-01

    Short stature that results from undernourishment during perinatal period is associated with an increased risk of diabetes and cardiovascular diseases in adulthood, particularly in poor populations. The present study investigated changes on anthropometric and metabolic parameters of socially vulnerable women with short stature. A prospective study with 48 women (19-45 years) who were mothers of undernourished children was conducted. Twenty-five of them were short (height ≤150 cm), and 23 were not short, to serve as a control (height >159 cm). Biochemical, anthropometric and dietary intake data were collected, before and after 4 years of follow-up. A mixed within-between analysis of covariance was used to assess the interaction between 'group' and 'time'. Waist-to-height ratio increased only in the short stature group, with significant interaction (+0.03 ± 0.03 in short group vs. +0.01 ± 0.03 in control; p for interaction = 0.04). The short stature group showed a significant decrease in the plasma triiodothyronine (T3) concentrations, without significant interaction (-0.16 ± 0.23 ng/ml in short group vs. -0.04 ± 0.29 ng/ml in control; p for interaction = 0.20). Women of short stature presented an increase in waist-to-height ratio, with a simultaneous decrease in total plasma T3. These alterations may lead them to increased risk of comorbidities. © 2016 S. Karger AG, Basel.

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

    Science.gov (United States)

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

    2014-01-01

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

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

    Science.gov (United States)

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

    2016-10-01

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

  12. Severe Short Stature in an Adolescent Male with Prader-Willi Syndrome and Congenital Adrenal Hyperplasia: A Therapeutic Conundrum

    Directory of Open Access Journals (Sweden)

    Meredith Wasserman

    2017-01-01

    Full Text Available Congenital adrenal hyperplasia (CAH due to 21-hydroxylase deficiency results in excess androgen production which can lead to early epiphyseal fusion and short stature. Prader-Willi syndrome (PWS is a genetic disorder resulting from a defect on chromosome 15 due to paternal deletion, maternal uniparental disomy, or imprinting defect. Ninety percent of patients with PWS have short stature. In this article we report a patient with simple-virilizing CAH and PWS who was overtreated with glucocorticoids for CAH and not supplemented with growth hormone for PWS, resulting in a significantly short adult height.

  13. Celiac disease, iron deficiency anaemia, grave's disease, osteopenia and short stature in single patient

    International Nuclear Information System (INIS)

    Radaideh, A.M.

    2015-01-01

    Celiac disease is an intestinal immune mediated disorder, triggered by ingestion of gluten-containing diet in genetically susceptible individuals. The genetic pre-disposition is related to human leukocyte antigen (HLA) class II genes, especially HLA-DQ2 positive patients. The prevalence of celiac disease in high worldwide and it has been estimated to be 1-26% in Western countries. Many auto-immune diseases can be associated with celiac disease including auto-immune thyroid disease; hashimoto thyroiditis and grave's disease. The opposite also appears to be true, celiac disease is found on persons with auto-immune thyroid disorders at high rates than the general population. Celiac disease is also associated with other extraintestinal diseases other the auto-immune diseases like anemia, short stature, metabolic bone disease and others. Screening for celiac disease should be considered in patients with auto-immune thyroid disease, anemia, short stature and metabolic bone disease. The life-long adherence to gluten-free diet is the only cure in celiac disease and can improve the quality of patients life and prevent future complications. This report describes a case of Grave's disease, Iron deficiency anemia, Short stature, Osteopenia, diagnosed to have Celiac disease. (author)

  14. A boy with 46,X,+mar presenting gynecomastia and short stature

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    Ki Eun Kim

    2017-12-01

    Full Text Available A 15-year-old boy was referred due to gynecomastia and short stature. He was overweight and showed the knuckle-dimple sign on the left hand, a short fourth toe on the left foot, and male external genitalia with a small phallus. His levels of estradiol and follicle-stimulating hormone were increased, and his testosterone concentration was normal. Other hormonal tests were within the normal range. Radiographs showed short fourth and fifth metacarpals and fourth metatarsal bones. The karyotype was reported as 46,X,+mar, and the marker chromosome was shown to originate from the Y chromosome, which was identified by fluorescence in situ hybridization. Polymerase chain reaction and direct sequencing were used to clarify the deleted loci of the Y chromosome by making use of Y-specific sequence-tagged sites (STSs. The sex-determining region Y and centromere were verified, and there were microdeletions on the long arm of the Y chromosome. The azoospermia factor (AZF b region was partially deleted, and AZFa and AZFc were completely deleted. Two STS probes of sY143 and the Y chromosome RNA recognition motif in AZFb showed positive signals corresponding to Yq11.223. The karyotype of the patient was interpreted as 46,X,der(Ydel(Y(q11.21q11.222del(Y(q11.23qter. Herein, we report a rare case of a boy presenting with gynecomastia and short stature with 46, X, +mar, which originated from the Y chromosome, which was identified to have Yq microdeletions.

  15. Quality of life and self-esteem in children treated for idiopathic short stature

    NARCIS (Netherlands)

    Theunissen, N.C.M.; Kamp, G.A.; Koopman, H.M.; Zwinderman, K.A.H.; Vogels, T.; Wit, J.-M.

    2002-01-01

    Objective: Changes in health-related quality of life (HRQOL) and self-esteem were studied in children with idiopathic short stature (ISS) participating in a study on the effect of growth hormone treatment. Study design: Prepubertal children (n = 36) with ISS were randomly assigned to a treatment or

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

    OpenAIRE

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

    2013-01-01

    In this study, we investigated the effects of GH treatment in children with Down syndrome who had been diagnosed with GH deficiency (GHD). A total of 20 subjects were investigated in this study. Fourteen Down syndrome children (5 boys and 9 girls) with short stature due to GHD were treated with GH at Okayama Red Cross General Hospital, and 6 Down syndrome children (4 boys and 2 girls) with short stature due to GHD were registered in the Pfizer International Growth Database (KIGS). Height SD s...

  17. Combined effect of short stature and socioeconomic status on body mass index and weight gain during reproductive age in Brazilian women

    Directory of Open Access Journals (Sweden)

    Sichieri R.

    2003-01-01

    Full Text Available Short stature, a marker for undernutrition early in life, has been associated with obesity in Brazilian women, but not in men. We tested the hypothesis that weight gain during the reproductive years could explain this gender difference. A national two-stage household survey of mothers with one or more children under five years of age was conducted in Brazil in 1996. The subjects were women aged 20 to 45 years (N = 2297, with last delivery seven months or more prior to the interview. The regions of the country were divided into rural, North/Northeast (urban underdeveloped and South/Southeast/Midwest (urban developed. The dependent variables were current body mass index (BMI measured, BMI prior to childbearing (reported, and BMI change. Socioeconomic variables included mother's years of education and family purchasing power score. A secondary analysis was restricted to primiparous women. The prevalence of current overweight and overweight prior to childbearing (BMI > or = 25 kg/m² was higher among shorter women (<1.50 m compared to normal stature women only in the urban developed region (P < 0.05. After adjustment for socioeconomic variables, age, parity, BMI prior to childbearing, and age at first birth, current BMI was 2.39 units higher (P = 0.008 for short stature women living in the urban developed area compared with short stature women living in the urban underdeveloped area. For both multiparous and primiparous women, BMI gain compared to the value prior to childbearing was significantly higher among short stature women living in the urban developed region (P <= 0.04. These results provide clear evidence that short stature was associated with a higher BMI and with an increased risk of weight gain/retention with pregnancy in the developed areas of Brazil, but not in the underdeveloped ones.

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

    Directory of Open Access Journals (Sweden)

    Sharvil S Gadve

    2012-01-01

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

  19. Growth hormone treatment for childhood short stature and risk of stroke in early adulthood.

    Science.gov (United States)

    Poidvin, Amélie; Touzé, Emmanuel; Ecosse, Emmanuel; Landier, Fabienne; Béjot, Yannick; Giroud, Maurice; Rothwell, Peter M; Carel, Jean-Claude; Coste, Joël

    2014-08-26

    We investigated the incidence of stroke and stroke subtypes in a population-based cohort of patients in France treated with growth hormone (GH) for short stature in childhood. Adult morbidity data were obtained in 2008-2010 for 6,874 children with idiopathic isolated GH deficiency or short stature who started GH treatment between 1985 and 1996. Cerebrovascular events were validated using medical reports and imaging data and classified according to standard definitions of subarachnoid hemorrhage, intracerebral hemorrhage, and ischemic stroke. Case ascertainment completeness was estimated with capture-recapture methods. The incidence of stroke and of stroke subtypes was calculated and compared with population values extracted from registries in Dijon and Oxford, between 2000 and 2012. Using both Dijon and Oxford population-based registries as references, there was a significantly higher risk of stroke among patients treated with GH in childhood. The excess risk of stroke was mainly attributable to a very substantially and significantly higher risk of hemorrhagic stroke (standardized incidence ratio from 3.5 to 7.0 according to the registry rates considered, and accounting or not accounting for missed cases), and particularly subarachnoid hemorrhage (standardized incidence ratio from 5.7 to 9.3). We report a strong relationship between hemorrhagic stroke and GH treatment in childhood for isolated growth hormone deficiency or childhood short stature. Patients treated with GH worldwide should be advised about this association and further studies should evaluate the potentially causal role of GH treatment in these findings. © 2014 American Academy of Neurology.

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

    OpenAIRE

    Wilson, HJ; Dickinson, F; Griffiths, PL; Bogin, B; Hobbs, M; Varela-Silva, MI

    2014-01-01

    The co-existence of very short stature due to poor chronic environment in early life and obesity is becoming a public health concern in rapidly transitioning populations with high levels of poverty. Individuals who have very short stature seem to be at an increased risk of obesity in times of relative caloric abundance. Increasing evidence shows that an individual is influenced by exposures in previous generations. This study assesses whether maternal poor early life environment predicts her ...

  1. Dietary Zinc Intake and Plasma Zinc Concentrations in Children with Short Stature and Failure to Thrive.

    Science.gov (United States)

    Yazbeck, Nadine; Hanna-Wakim, Rima; El Rafei, Rym; Barhoumi, Abir; Farra, Chantal; Daher, Rose T; Majdalani, Marianne

    2016-01-01

    The burden of zinc deficiency on children includes an increased incidence of diarrhea, failure to thrive (FTT) and short stature. The aim of this study was to assess whether children with FTT and/or short stature have lower dietary zinc intake and plasma zinc concentrations compared to controls. A case-control study conducted at the American University of Beirut Medical Center included 161 subjects from 1 to 10 years of age. Cases had a statistically significant lower energy intake (960.9 vs. 1,135.2 kcal for controls, p = 0.010), lower level of fat (30.3 vs. 36.5 g/day, p = 0.0043) and iron intake (7.4 vs. 9.1 mg/day, p = 0.034). There was no difference in zinc, copper, carbohydrate and protein intake between the 2 groups. The plasma zinc concentration did not differ between the cases and controls (97.4 vs. 98.2 μg/dl, p = 0.882). More cases had mild-to-moderate zinc deficiency when compared to controls with 10.3 vs. 3.6%, p = 0.095. Our study did not show statistically significant difference in dietary zinc intake and plasma zinc concentrations between children with FTT and/or short stature compared to healthy controls. A prospective study is planned to assess the effect of zinc supplementation on growth parameters in FTT children. © 2016 S. Karger AG, Basel.

  2. Combined effect of short stature and socioeconomic status on body mass index and weight gain during reproductive age in Brazilian women.

    Science.gov (United States)

    Sichieri, R; Silva, C V C; Moura, A S

    2003-10-01

    Short stature, a marker for undernutrition early in life, has been associated with obesity in Brazilian women, but not in men. We tested the hypothesis that weight gain during the reproductive years could explain this gender difference. A national two-stage household survey of mothers with one or more children under five years of age was conducted in Brazil in 1996. The subjects were women aged 20 to 45 years (N = 2297), with last delivery seven months or more prior to the interview. The regions of the country were divided into rural, North/Northeast (urban underdeveloped) and South/Southeast/Midwest (urban developed). The dependent variables were current body mass index (BMI) measured, BMI prior to childbearing (reported), and BMI change. Socioeconomic variables included mother's years of education and family purchasing power score. A secondary analysis was restricted to primiparous women. The prevalence of current overweight and overweight prior to childbearing (BMI > or = 25 kg/m2) was higher among shorter women (parity, BMI prior to childbearing, and age at first birth, current BMI was 2.39 units higher (P = 0.008) for short stature women living in the urban developed area compared with short stature women living in the urban underdeveloped area. For both multiparous and primiparous women, BMI gain compared to the value prior to childbearing was significantly higher among short stature women living in the urban developed region (P <= 0.04). These results provide clear evidence that short stature was associated with a higher BMI and with an increased risk of weight gain/retention with pregnancy in the developed areas of Brazil, but not in the underdeveloped ones.

  3. Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis.

    Science.gov (United States)

    Hisado-Oliva, Alfonso; Garre-Vázquez, Ana I; Santaolalla-Caballero, Fabiola; Belinchón, Alberta; Barreda-Bonis, Ana C; Vasques, Gabriela A; Ramirez, Joaquin; Luzuriaga, Cristina; Carlone, Gianni; González-Casado, Isabel; Benito-Sanz, Sara; Jorge, Alexander A; Campos-Barros, Angel; Heath, Karen E

    2015-08-01

    SHOX mutations have been detected in approximately 70% of Léri-Weill dyschondrosteosis (LWD) and approximately 2.5% of idiopathic short stature (ISS) cases, suggesting the implication of other genes or loci. The recent identification of NPR2 mutations in ISS suggested that NPR2 mutations may also be involved in disproportionate short stature. The objective of the study was to investigate whether NPR2 mutations can account for a proportion of the cases referred for LWD and ISS in whom no SHOX mutation was detected. We undertook NPR2 mutation screening in 173 individuals referred for suspected LWD and 95 for ISS, with no known defect in SHOX or its enhancers. Intracellular localization and natriuretic peptide precursor C-dependent guanylate cyclase activity were determined for the identified NPR2 variants. Eight NPR2 variants were identified in nine individuals, seven referred for suspected LWD and two for ISS. Six were demonstrated to affect NPR-B cell trafficking and/or its ability to synthesize cyclic GMP (cGMP) under response to natriuretic peptide precursor C/brain natriuretic peptide stimulation. All pathogenic mutations were detected in the suspected LWD referral group (∼3%). Interestingly, one of these patients is currently being treated with recombinant human GH and in contrast to previous reports is showing a positive response to the treatment. NPR2 mutations account for approximately 3% of patients with disproportionate short stature and/or clinical or radiographic indicators of SHOX deficiency and in whom no SHOX defect has been identified. However, no patient has yet presented with Madelung deformity. Thus, NPR2 should be screened in the SHOX-negative LWD referrals.

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

    Science.gov (United States)

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

    2013-10-01

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

  5. Health status of adults with Short Stature: A comparison with the normal population and one well-known chronic disease (Rheumatoid Arthritis

    Directory of Open Access Journals (Sweden)

    Naess Eva E

    2007-02-01

    Full Text Available Abstract Background To examine the subjective health status of adults with short stature (ShSt and compare with the general population (GP and one well-known chronic disease, rheumatoid artritis (RA. In addition, to explore the association between age, gender, height, educational level and different aspects of health status of adults with short stature. Methods A questionnaire was mailed to 72 subjects with short stature registered in the database of a Norwegian resource centre for rare disorders, response rate 61% (n = 44, age 16–61. Health status was assessed with SF-36 version 2. Comparison was done with age and gender matched samples from the general population in Norway (n = 264 and from subjects with RA (n = 88. Results The ShSt sample reported statistically significant impaired health status in all SF-36 subscales compared with the GP sample, most in the physical functioning, Mean Difference (MD 34 (95% Confidence Interval (CI 25–44. The ShSt reported poorer health status in mental health, MD 11 (95% CI 4–18 and social functioning, MD 11 (95% CI 2–20 but better in role physical MD 13 (95% CI 1–25 than the RA sample. On the other subscales there were minor difference between the ShSt and the RA sample. Within the short stature group there was a significant association between age and all SF-36 physical subcales, height was significantly associated with physical functioning while level of education was significantly associated with mental health. Conclusion People with short stature reported impaired health status in all SF-36 subscales indicating that they have health problems that influence their daily living. Health status seems to decline with increasing age, and earlier than in the general population.

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

    Directory of Open Access Journals (Sweden)

    Manisha Goyal

    2016-01-01

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

  7. Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies

    Directory of Open Access Journals (Sweden)

    Samuel Bloor

    2017-01-01

    Full Text Available B3GAT3, encoding β-1,3-glucuronyltransferase 3, has an important role in proteoglycan biosynthesis. Homozygous B3GAT3 mutations have been associated with short stature, skeletal deformities, and congenital heart defects. We describe for the first time a novel heterozygous splice site mutation in B3GAT3 contributing to severe short stature, growth hormone (GH deficiency, recurrent ketotic hypoglycaemia, facial dysmorphism, and congenital heart defects. A female infant, born at 34 weeks’ gestation to nonconsanguineous Caucasian parents with a birth weight of 1.9 kg, was noted to have cloacal abnormality, ventricular septal defect, pulmonary stenosis, and congenital sensorineural deafness. At 4 years of age, she was diagnosed with GH deficiency due to her short stature (height G in the invariant “GT” splice donor site was identified. This variant is considered to be pathogenic as it decreases the splicing efficiency in the mRNA.

  8. Selecting short-statured children needing growth hormone testing: Derivation and validation of a clinical decision rule

    Directory of Open Access Journals (Sweden)

    Bréart Gérard

    2008-07-01

    Full Text Available Abstract Background Numerous short-statured children are evaluated for growth hormone (GH deficiency (GHD. In most patients, GH provocative tests are normal and are thus in retrospect unnecessary. Methods A retrospective cohort study was conducted to identify predictors of growth hormone (GH deficiency (GHD in children seen for short stature, and to construct a very sensitive and fairly specific predictive tool to avoid unnecessary GH provocative tests. GHD was defined by the presence of 2 GH concentration peaks Results The initial study included 167 patients, 36 (22% of whom had GHD, including 5 (3% with certain GHD. Independent predictors of GHD were: growth rate Conclusion We have derived and performed an internal validation of a highly sensitive decision rule that could safely help to avoid more than 2/3 of the unnecessary GH tests. External validation of this rule is needed before any application.

  9. Growth and adult height in GH-treated children with nonacquired GH deficiency and idiopathic short stature: the influence of pituitary magnetic resonance imaging findings.

    Science.gov (United States)

    Coutant, R; Rouleau, S; Despert, F; Magontier, N; Loisel, D; Limal, J M

    2001-10-01

    We analyzed the final height of 146 short children with either nonacquired GH deficiency or idiopathic short stature. Our purpose was 1) to assess growth according to the pituitary magnetic resonance imaging findings in the 63 GH-treated children with GH deficiency and 2) to compare the growth of the GH-deficient patients with normal magnetic resonance imaging (n = 48) to that of 32 treated and 51 untreated children with idiopathic short stature (GH peak to provocative tests >10 microg/liter). The mean GH dose was 0.44 IU/kg.wk (0.15 mg/kg.wk), given for a mean duration of 4.6 yr. Among the GH-deficient children, 15 had hypothalamic-pituitary abnormalities (stalk agenesis), all with total GH deficiency (GH peak imaging, had better catch-up growth (+2.7 +/- 0.9 vs. +1.3 +/- 0.8 SD score; P imaging, there was no difference in catch-up growth and final height between partial and total GH deficiencies. GH-deficient subjects with normal magnetic resonance imaging and treated and untreated patients with idiopathic short stature had comparable auxological characteristics, age at evaluation, and target height. Although they had different catch-up growth (+1.3 +/- 0.8, +0.9 +/- 0.6, and +0.7 +/- 0.9 SD score, respectively; P imaging findings show the heterogeneity within the group of nonacquired GH deficiency and help to predict the response to GH treatment in these patients. The similarities in growth between the GH-deficient children with normal magnetic resonance imaging and those with idiopathic short stature suggest that the short stature in the former subjects is at least partly due to factors other than GH deficiency.

  10. MRI features of growth hormone deficiency in children with short stature caused by pituitary lesions.

    Science.gov (United States)

    Xu, Chao; Zhang, Xinxian; Dong, Lina; Zhu, Bin; Xin, Tao

    2017-06-01

    We verified the advantages of using magnetic resonance imaging (MRI) for improving the diagnostic quality of growth hormone deficiency (GHD) in children with short stature caused by pituitary lesions. Clinical data obtained from 577 GHD patients with short stature caused by pituitary lesions were retrospectively analyzed. There were 354 cases (61.3%) with anterior pituitary dysplasia; 45 cases (7.8%) of pituitary stalk interruption syndrome (PSIS); 15 cases (2.6%) of pituitary hyperplasia due to primary hypothyroidism; 38 cases (6.6%) of Rathke cleft cyst; 68 cases (11.8%) of empty sella syndrome; 16 cases (2.8%) of pituitary invasion from Langerhans cell histiocytosis; 2 cases (0.3%) of sellar regional arachnoid cyst and 39 cases (6.8%) of craniopharyngioma. MRI results showed that the height of anterior pituitary in patients was less than normal. Location, size and signals of posterior pituitary and pituitary stalk were normal in anterior pituitary dysplasia. In all cases pituitary hyperplasia was caused by hypothyroidism. MRI results showed that anterior pituitary was enlarged, and we detected upward apophysis and obvious homogeneous enhancement. There were no pituitary stalk interruption and abnormal signal. We also observed that after hormone replacement therapy the size of pituitary gland was reduced. Anterior pituitary atrophy was observed in Rathke cleft cyst, empty sella syndrome, sellar regional arachnoid cyst and craniopharyngioma. The microstructure of hypophysis and sellar region was studied with MRI. We detected pituitary lesions, and the characteristics of various pituitary diseases of GHD in children with short stature. It was concluded that in children with GHD caused by pituitary lesions, MRI was an excellent method for early diagnosis. This method offers clinical practicability and we believe it can be used for differential diagnosis and to monitor the therapeutic effects.

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

    Science.gov (United States)

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

    2017-03-01

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

  12. [Short stature treatment by lower limb lengthening--multicenter study from five centers].

    Science.gov (United States)

    Koczewski, Paweł; Shadi, Milud; Napiontek, Marek; Dorman, T; Faflik, J; Grzegorzewski, A; Jasiewicz, B; Kacki, W; Kucharski, R; Niedzielski, K; Synder, M; Tesiorowski, M; Zarzycka, M; Zarek, S

    2002-01-01

    26 patients (17 female, 9 male) from 5 centers were evaluated. The age at the beginning of treatment ranged from 6 to 29 years (mean 13.8). The cause of short stature in 19 patients was achondroplasia or pseudoachondroplasia, in next 2--other bone dysplasias. The other 5 patients had not bone pathology and were treated because of cosmetic indications. Preoperative body height ranged from 90 to 149 cm (mean 120). Axial deviations of the lower extremities were noted in 11 patients. Mean follow-up was 3.7 years. METHOD OF TREATMENT: Most of patients were treated with Ilizarov device using cross lengthening strategy (2 stages--opposite femur and tibia lengthening). Mean duration of treatment including interval between two stages (mean 12 months) was 29 months. Planned increase of body height ranged from 10 to 26 cm (mean 16.4). Planned or greater lengthening (mean 14.8 cm) was achieved in 14 patients. Partial planned lengthening (mean 65% of planned lengthening) was achieved in 8 patients (mean 11.8 cm) including two patients who resigned the second stage of treatment. In two patients lengthening was stopped during first month of treatment because of great complications. In 2 patients treatment was not completed (interval between first and second stage). Mean increase of body height of patients with complete treatment was 13.1 cm (from 2 to 28). Problems, obstacles and complications were analyzed according to Paley classification. There were 24 problems in 15 patient (inflammation process around K wires--15 patients, bone healing disturbances--3, regenerate fracture--2, transient foot equinus--2 and axial deviation of the lower extremity--1). There were 31 obstacles in 19 patients (regenerate's defect--7 patients, premature bone consolidation--6, foot equinus--4 and other--14). There were 26 complications in 18 patients (axial deviation of the lengthened segment--8, foot equinus--6, paresis of the peroneal nerve--3, fractures--2 and other--5). The most serious

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

    Science.gov (United States)

    Deodati, Annalisa; Cianfarani, Stefano

    2011-03-11

    To systematically determine the impact of growth hormone therapy on adult height of children with idiopathic short stature. Systematic review. Cochrane Central Register of Controlled Trials, Medline, and the bibliographic references from retrieved articles of randomised and non-randomised controlled trials from 1985 to April 2010. Height in adulthood (standard deviation score) and overall gain in height (SD score) from baseline measurement in childhood. Randomised and non-randomised controlled trials with height measurements for adults. Inclusion criteria were initial short stature (defined as height >2 SD score below the mean), peak growth hormone responses >10 μg/L, prepubertal stage, no previous growth hormone therapy, and no comorbid conditions that would impair growth. Adult height was considered achieved when growth rate was growth hormone treated children exceeded that of the controls by 0.65 SD score (about 4 cm). The mean height gain in treated children was 1.2 SD score compared with 0.34 SD score in untreated children. A slight difference of about 1.2 cm in adult height was observed between the two growth hormone dose regimens. In the seven non-randomised controlled trials the adult height of the growth hormone treated group exceeded that of the controls by 0.45 SD score (about 3 cm). Growth hormone therapy in children with idiopathic short stature seems to be effective in partially reducing the deficit in height as adults, although the magnitude of effectiveness is on average less than that achieved in other conditions for which growth hormone is licensed. The individual response to therapy is highly variable, and additional studies are needed to identify the responders.

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

    Science.gov (United States)

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

    2015-03-01

    Short stature refers to the height of an individual which is below expected. The causes are heterogenous and influenced by several genetic and environmental factors. Chromosomal abnormalities are a major cause of diseases and cytogenetic mapping is one of the powerful tools for the identification of novel disease genes. Here we report a three generation family with a heterozygous pericentric inversion of 46, XX, inv(3) (p24.1q26.1) associated with Short stature. Positional cloning strategy was used to physically map the breakpoint regions by Fluorescence in situ hybridization (FISH). Fine mapping was performed with Bacterial Artificial Chromosome (BAC) clones spanning the breakpoint regions. In order to further characterize the breakpoint regions extensive molecular mapping was carried out with the breakpoint spanning BACs which narrowed down the breakpoint region to 2.9 kb and 5.3 kb regions on p and q arm respectively. Although these breakpoints did not disrupt any validated genes, we had identified a novel putative gene in the vicinity of 3q26.1 breakpoint region by in silico analysis. Trying to find the presence of any transcripts of this putative gene we analyzed human total RNA by RT-PCR and identified transcripts containing three new exons confirming the existence of a so far unknown gene close to the 3q breakpoint. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

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

    Science.gov (United States)

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

    2012-01-01

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

  16. Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature

    DEFF Research Database (Denmark)

    Ostergaard, Elsebet; Weraarpachai, Woranontee; Ravn, Kirstine Johanne Theresia

    2015-01-01

    BACKGROUND: We investigated a subject with an isolated cytochrome c oxidase (COX) deficiency presenting with an unusual phenotype characterised by neuropathy, exercise intolerance, obesity, and short stature. METHODS AND RESULTS: Blue-native polyacrylamide gel electrophoresis (BN-PAGE) analysis s...

  17. The prevalence of isolated growth hormone deficiency among children of short stature in Jordan and its relationship with consanguinity.

    Science.gov (United States)

    Zayed, Ayman A; Mustafa Ali, Moaath K; Al-Ani, Mohammad A; Momani, Munther S; Yousef, Al-Motassem F

    2014-12-01

    The prevalence of isolated growth hormone deficiency (IGHD) among short-statured children in Jordan, where consanguineous marriage (CM) is common, is unknown. No studies have investigated the relationship between degrees of consanguinity and IGHD. This study aimed to determine the prevalence of IGHD among short-statured children referred to a university hospital in Jordan and its relationship with different degrees of consanguinity. We conducted a 24-month cross-sectional observational trial at an outpatient tertiary care center in Amman, Jordan. We obtained detailed family histories, medical evaluations and laboratory tests for 94 short-statured children (50 boys and 44 girls aged 6-16 years). Complete and partial GHD were defined as peak GH responses of 5 and 7 μg/l (15 and 21 mIU/l) [IRMA/DiaSorin®], respectively, in both exercise and insulin tolerance tests. GHD was diagnosed in 69·1% of the short children, including 86% (43/50) of the children of consanguineous parents (83·3%, 93·8% and 81·8% of children of first cousins, first cousins once removed and second cousins, respectively) and 50% (20/44) of the children of nonconsanguineous parents (P = 0·039, 0·002 and 0·013, respectively). However, there was no statistically significant difference in the prevalence of small pituitary MRI between GH-deficient children of consanguineous parents and those of nonconsanguineous parents (28·6% vs 13·6%, P = 0·3). The prevalence of IGHD among referred short children in Jordan was exceptionally high and significantly higher in the children of CM. In countries where CM is common, preconception counselling and rigorous surveillance for GHD in short children may be indicated. © 2014 John Wiley & Sons Ltd.

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

    Science.gov (United States)

    Grissom, Maureen

    2013-07-01

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

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

    OpenAIRE

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

    2012-01-01

    Ectopic neurohypophysis (EN) is found in nearly half of children with growth hormone deficiency (GHD). Rathke's cyst (RC) is uncommon in children and when present, hypopituitarism is found in nearly half of them. We present a fourteen and half-year-old girl with severe short stature and delayed puberty who on evaluation was found to have GHD, secondary hypocortisolism, and hypogonadism. Imaging revealed hypoplastic anterior pituitary, stalk agenesis, EN at tuber cinereum and intrapituitary RC...

  20. Auxological criteria for the diagnosis of GH-dependent short stature and prescription of rGH: problems and pitfalls

    Directory of Open Access Journals (Sweden)

    Giulio Gilli

    2007-12-01

    Full Text Available Recombinant growth hormone (rGH administration is a cornerstone in the treatment of short stature secondary to GH deficit. Since its introduction in the 80s, the population of short patients with an indication to rGH therapy has clearly broadened, probably because of increased awareness by patients and physicians. Since rGH therapy is demanding for patients and expensive, the Italian National Health Service, like other third payers and regulatory authorities, regulates its prescription according to criteria listed in the Nota AIFA 39. This paper illustrates pitfalls and difficulties paediatricians may encounter when assessing short stature patients in order to decide upon the opportunity and possibility to initiate rGH therapy through the exposition of four emblematic, though hypothetical, clinical histories. In the discussion, the Authors highlight some of the most critical points in the formulation of the Nota 39, among which are the lack of clear reference values, neglecting of parental height targets and therapeutic responses, as well as some omissions in methodology specifications.

  1. Prevalence of short stature, underweight, overweight, and obesity among school children in Jordan.

    Science.gov (United States)

    Zayed, Ayman A; Beano, Abdallah M; Haddadin, Faris I; Radwan, Sohab S; Allauzy, Suhaib A; Alkhayyat, Motasem M; Al-Dahabrah, Zaid A; Al-Hasan, Yanal G; Yousef, Al-Motassem F

    2016-10-03

    The prevalence of short stature (SS) and underweight in Jordan on a national level is unknown. This study aimed to investigate, on a national level, the prevalence of short stature (SS), underweight, overweight, and obesity among school aged children in Jordan. This cross-sectional study was conducted from May 2015 to January 2016 and included 2702 subjects aged 6-17 years. Jordan was classified into 3 regions; North, Center (urban), and South (rural). Public and private schools were randomly selected from a random sample of cities from each region. The socioeconomic status of the sampling locations was assessed using several indicators including education, income, healthcare and housing conditions. For each participating subject, anthropometrics were obtained. SS, underweight, overweight and obesity were defined using Center of Disease Control's (CDC) growth charts. Median Z-scores for each region, age and gender were calculated. The Central and Northern regions enjoyed higher socioeconomic status compared to rural Southern regions. The overall prevalence of SS, underweight, overweight, and obesity were 4.9 %, 5.7 %, 17.3 %, and 15.7 %, respectively. SS and underweight were most prevalent in the rural South, while obesity was highest in the Central region. Females were more likely to be overweight, while males were more likely to be obese. Private schools had higher prevalence of obesity and overweight than public ones. Variations in height and weight among Jordanian school children might be affected by socioeconomic status.

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

    OpenAIRE

    Rubio-Cabezas, Oscar; G?mez, Jos? Luis; Gleisner, Andrea; Hattersley, Andrew T.; Codner, Ethel

    2016-01-01

    Context: Biallelic mutations in NEUROG3 are known to cause early-onset malabsorptive diarrhea due to congenital anendocrinosis and diabetes mellitus at a variable age. No other endocrine disorders have been described so far. We report four patients with homozygous NEUROG3 mutations who presented with short stature and failed to show any signs of pubertal development. Case Description: Four patients (two males, two females) were diagnosed with homozygous mutations in NEUROG3 on the basis of co...

  3. Short Maternal Stature Increases Risk of Small-for-Gestational-Age and Preterm Births in Low- and Middle-Income Countries

    DEFF Research Database (Denmark)

    Kozuki, Naoko; Katz, Joanne; Lee, Anne Cc

    2015-01-01

    BACKGROUND: Small-for-gestational-age (SGA) and preterm births are associated with adverse health consequences, including neonatal and infant mortality, childhood undernutrition, and adulthood chronic disease. OBJECTIVES: The specific aims of this study were to estimate the association between...... short maternal stature and outcomes of SGA alone, preterm birth alone, or both, and to calculate the population attributable fraction of SGA and preterm birth associated with short maternal stature. METHODS: We conducted an individual participant data meta-analysis with the use of data sets from 12...... population-based cohort studies and the WHO Global Survey on Maternal and Perinatal Health (13 of 24 available data sets used) from low- and middle-income countries (LMIC). We included those with weight taken within 72 h of birth, gestational age, and maternal height data (n = 177,000). For each...

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

    OpenAIRE

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

    2015-01-01

    The case history of a 35-year-old female patient with short stature is presented. She was posted for rectopexy in view of rectal prolapse. She was a known case of bronchial asthma. She had crowding of intervertebral spaces, which made administration of spinal anesthesia via the normal route very difficult. Taylor′s approach for administration of the same was tried and proved successful, thus saving the patient from receiving general anesthesia in the presence of bronchial asthma, for a perine...

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

    Science.gov (United States)

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

    2012-01-10

    The aim of the study was to analyze frequency of SHOX gene defects and selected dysmorphic signs in patients of both idiopathic short stature (ISS) and Léri-Weill dyschondrosteosis (LWD), all derived from the Czech population. Overall, 98 subjects were analyzed in the study. Inclusion criteria were the presence of short stature (-2.0 SD), in combination with at least one of the selected dysmorphic signs for the ISS+ group; and the presence of Madelung deformity, without positive karyotyping for the LWD+ group. Each proband was analyzed by use of P018 MLPA kit, which covers SHOX and its regulatory sequences. Additionally, mutational analysis was done of the coding portions of the SHOX. Both extent and breakpoint localizations in the deletions/duplications found were quite variable. Some PAR1 rearrangements were detected, without obvious phenotypic association. In the ISS+ group, MLPA analysis detected four PAR1 deletions associated with a SHOX gene defect, PAR1 duplication with an ambiguous effect, and two SHOX mutations (13.7%). In the LWD+ group, MLPA analysis detected nine deletions in PAR1 region, with a deleterious effect on SHOX, first reported case of isolated SHOX enhancer duplication, and SHOX mutation (68.8%). In both ISS+ and LWD+ groups were positivity associated with a disproportionately short stature; in the ISS+ group, in combination with muscular hypertrophy. It seems that small PAR1 rearrangements might be quite frequent in the population. Our study suggests disproportionateness, especially in combination with muscular hypertrophy, as relevant indicators of ISS to be the effect of SHOX defect. Copyright © 2011 Elsevier B.V. All rights reserved.

  6. Psychosocial profiles of children with achondroplasia in terms of their short stature-related stress: a nationwide survey in Japan.

    Science.gov (United States)

    Nishimura, Naoko; Hanaki, Keiichi

    2014-11-01

    To assess psychosocial profiles of children with achondroplasia using a nationwide survey. Achondroplasia, showing short stature and disproportionately short limbs, causes physical inconvenience such as difficulty in reaching high objects. It is, however, still controversial whether the condition is associated with psychological problems, especially in childhood. A cross-sectional descriptive design was employed. To evaluate psychosocial profiles and adaptation processes in children with achondroplasia, we developed an inventory of scales based on the psychological stress model of which conceptual framework was comprised of stressor, coping process, coping resource and adaptation outcome domains. Participants were recruited nationwide through the largest advocacy support group for achondroplasia in Japan. Of the 130 group members, 73 X-ray-diagnosed patients, aged 8-18 years, completed the inventory of questionnaires to be analysed. As for the stressor domain, patients experienced short stature-related unpleasant experiences more frequently (z-score: +1·3 in average, +3·9 in physical inconvenience). Nevertheless, these experiences had little effect on the coping process (threat appraisal: -0·2, control appraisal: +0·1) and the adaptation outcome (stress response: +0·3, self-concept: 0·0). Interestingly, self-efficacy in the coping resource domain was noticeably increased (+3·1) and was strongly correlated with most variables in the coping process and in adaptation outcome domains. Although the children with achondroplasia experienced more short stature-related stressors, there was no evidence of any psychosocial maladaptation. This finding suggests that coping process as well as coping resources such as self-efficacy could be important targets for promoting psychological adjustment in children with achondroplasia. To help children with achondroplasia adapt socially, nurses and other healthcare providers should routinely assess their psychological adaptation

  7. Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia.

    Science.gov (United States)

    de Bruin, Christiaan; Finlayson, Courtney; Funari, Mariana F A; Vasques, Gabriela A; Lucheze Freire, Bruna; Lerario, Antonio M; Andrew, Melissa; Hwa, Vivian; Dauber, Andrew; Jorge, Alexander A L

    2016-01-01

    Acromicric dysplasia (AD) and geleophysic dysplasia 2 (GD2) belong to the category of acromelic dysplasia syndromes, consisting of severe short stature, short hands and feet and skin thickening. Both can result from missense mutations in the transforming growth factor beta 5 domain of the fibrillin-1 gene (FBN1). Two patients (P1 age 10, and P2 age 7) from unrelated families presented to their endocrinologist with severe short stature (approx. -4 SDS). They were otherwise asymptomatic and only had mild facial dysmorphisms. Extensive endocrine work-up did not reveal an underlying etiology. Exome sequencing was performed in each family. Exome sequencing identified the presence of the same heterozygous missense variant c.C5183T (p.Ala1728Val) in the FBN1 gene in both P1 and P2. This variant was previously reported in a patient with GD2 and associated cardiac valvulopathy and hepatomegaly. Detailed clinical re-examination, cardiac and skeletal imaging did not reveal any abnormalities in P1 or P2 other than mild hip dysplasia. This report broadens the phenotypic spectrum of growth disorders associated with FBN1 mutations. Identical mutations give rise to a wide phenotypic spectrum, ranging from isolated short stature to a more classic picture of GD2 with cardiac involvement, distinct facial dysmorphisms and various skeletal anomalies. © 2016 S. Karger AG, Basel.

  8. The clinical study on the relationship between growth hormone secretion and pituitary magnetic resonance imaging findings in children with short stature

    International Nuclear Information System (INIS)

    Masuda, Ryuji

    1996-01-01

    The relationship between pituitary size evaluated by magnetic resonance imaging (MRI) and pituitary function was studied in 104 boys and 81 girls with short stature. Eighteen boys and 10 girls had normal secretion of growth hormone (GH) based on growth hormone provocative tests. Their height and volume of pituitary gland with normal anatomy were significantly correlated with their age. The pituitary height of girls was higher than that of boys. Sixty boys and 29 girls had growth hormone deficiency (GHD), and 3 boys of them had multiple pituitary deficiencies (MPHD) with pituitary interruption syndrome (transected pituitary stalk, severe small anterior lobe, ectopic posterior lobe). Pituitary height of the groups with GHD were almost less than normal groups. Thirteen girls with Turner syndrome out of 81 girls with short stature showed no difference in pituitary height compared to normal girls. (author)

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

    International Nuclear Information System (INIS)

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

    2009-01-01

    Bone age (BA) rating is time consuming and highly rater dependent. To adjust the fully automated BoneXpert method to agree with the manual Greulich and Pyle BA (GP BA) ratings of five raters and to validate the accuracy for short children. A total of 1,097 left hand radiographs from 188 children with short stature, including growth hormone deficiency (44%) and Turner syndrome (29%) were evaluated. BoneXpert rejected 14 of the 1,097 radiographs, and deviated by more than 1.9 years from the operator BA for 27 radiographs. These were rerated blindly by four operators. Of the 27 new ratings, 26 were within 1.9 years of the automatic BA values. The root mean square deviation between manual and automatic rating was 0.72 years (95% CI 0.69-0.75). BoneXpert's ability to process 99% of images automatically without errors, and to obtain good agreement with an operator suggests that the method is efficient and reliable for short children. (orig.)

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

    Energy Technology Data Exchange (ETDEWEB)

    Martin, David D.; Deusch, Dorothee; Schweizer, Roland; Binder, Gerhard; Ranke, Michael B. [University Children' s Hospital, Paediatric Endocrinology Section, Tuebingen (Germany); Thodberg, Hans Henrik [Visiana, Holte (Denmark)

    2009-06-15

    Bone age (BA) rating is time consuming and highly rater dependent. To adjust the fully automated BoneXpert method to agree with the manual Greulich and Pyle BA (GP BA) ratings of five raters and to validate the accuracy for short children. A total of 1,097 left hand radiographs from 188 children with short stature, including growth hormone deficiency (44%) and Turner syndrome (29%) were evaluated. BoneXpert rejected 14 of the 1,097 radiographs, and deviated by more than 1.9 years from the operator BA for 27 radiographs. These were rerated blindly by four operators. Of the 27 new ratings, 26 were within 1.9 years of the automatic BA values. The root mean square deviation between manual and automatic rating was 0.72 years (95% CI 0.69-0.75). BoneXpert's ability to process 99% of images automatically without errors, and to obtain good agreement with an operator suggests that the method is efficient and reliable for short children. (orig.)

  11. Patients with Duchenne muscular dystrophy are significantly shorter than those with Becker muscular dystrophy, with the higher incidence of short stature in Dp71 mutated subgroup.

    Science.gov (United States)

    Matsumoto, Masaaki; Awano, Hiroyuki; Lee, Tomoko; Takeshima, Yasuhiro; Matsuo, Masafumi; Iijima, Kazumoto

    2017-11-01

    Duchenne and Becker muscular dystrophy (DMD/BMD) are caused by mutations in the dystrophin gene and are characterized by severe and mild progressive muscle wasting, respectively. Short stature has been reported as a feature of DMD in the Western hemisphere, but not yet confirmed in Orientals. Height of young BMD has not been fully characterized. Here, height of ambulant and steroid naive Japanese 179 DMD and 42 BMD patients between 4 and 10 years of age was retrospectively examined using height standard deviation score (SDS). The mean height SDS of DMD was -1.08 SD that was significantly smaller than normal (p < 0.001), indicating short stature of Japanese DMD. Furthermore, the mean height SDS of BMD was -0.27 SD, suggesting shorter stature than normal. Remarkably, the mean height SDS of DMD was significantly smaller than that of BMD (p < 0.0001). In DMD higher incidence of short stature (height SDS < -2.5 SD) was observed in Dp71 subgroup having mutations in dystrophin exons 63-79 than others having mutations in exons 1-62 (27.8% vs. 7.5%, p = 0.017). These suggested that height is influenced by dystrophin in not only DMD but also BMD and that dystrophin Dp71 has a role in height regulation. Copyright © 2017 Elsevier B.V. All rights reserved.

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

    Directory of Open Access Journals (Sweden)

    Susan R. Mendley

    2015-01-01

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

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

    Science.gov (United States)

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

    2015-02-01

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

  14. Short-term effect of superficial heat treatment on paraspinal muscle activity, stature recovery, and psychological factors in patients with chronic low back pain.

    Science.gov (United States)

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

    2012-02-01

    To test the hypothesis that patients with chronic low back pain (CLBP) would have reduced paraspinal muscle activity when wearing a heat wrap and that this would be associated with increased stature recovery and short-term improvements in psychological factors. A within-subject repeated-measures design. Muscle activity and stature recovery were assessed before and after a 40-minute unloading period, both without a heat wrap and after 2 hours of wear. Questionnaires were completed after both sessions. Hospital physiotherapy department. Patients with CLBP (n=24; age, 48.0±9.0 y; height, 166.6±7.3 cm; body mass, 80.2±12.9 kg) and asymptomatic participants (n=11; age, 47.9±15.4 y; height, 168.7±11.6 cm; body mass, 69.3±13.1 kg) took part in the investigation. Patients on the waiting list for 2 physiotherapist-led rehabilitation programs, and those who had attended the programs during the previous 2 years, were invited to participate. Superficial heat wrap. Paraspinal muscle activity, stature recovery over a 40-minute unloading period, pain, disability, and psychological factors. For the CLBP patients only, the heat wrap was associated with a reduction in nonnormalized muscle activity and a positive short-term effect on self-report of disability, pain-related anxiety, catastrophizing, and self-efficacy. Changes in muscle activity were correlated with changes in stature recovery, and both were also correlated to changes in psychological factors. Use of the heat wrap was associated with a decrease in muscle activity and a short-term improvement in certain aspects of well-being for the CLBP patients. The results confirm the link between the biomechanical and psychological outcome measures. Copyright © 2012 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.

  15. Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS).

    Science.gov (United States)

    Benito-Sanz, S; Barroso, E; Heine-Suñer, D; Hisado-Oliva, A; Romanelli, V; Rosell, J; Aragones, A; Caimari, M; Argente, J; Ross, J L; Zinn, A R; Gracia, R; Lapunzina, P; Campos-Barros, A; Heath, K E

    2011-02-01

    Léri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia characterized by disproportionate short stature and the Madelung deformity of the forearm. SHOX mutations and pseudoautosomal region 1 deletions encompassing SHOX or its enhancers have been identified in approximately 60% of LWD and approximately 15% of idiopathic short stature (ISS) individuals. Recently SHOX duplications have been described in LWD/ISS but also in individuals with other clinical manifestations, thus questioning their pathogenicity. The objective of the study was to investigate the pathogenicity of SHOX duplications in LWD and ISS. Multiplex ligation-dependent probe amplification is routinely used in our unit to analyze for SHOX/pseudoautosomal region 1 copy number changes in LWD/ISS referrals. Quantitative PCR, microsatellite marker, and fluorescence in situ hybridization analysis were undertaken to confirm all identified duplications. During the routine analysis of 122 LWD and 613 ISS referrals, a total of four complete and 10 partial SHOX duplications or multiple copy number (n > 3) as well as one duplication of the SHOX 5' flanking region were identified in nine LWD and six ISS cases. Partial SHOX duplications appeared to have a more deleterious effect on skeletal dysplasia and height gain than complete SHOX duplications. Importantly, no increase in SHOX copy number was identified in 340 individuals with normal stature or 104 overgrowth referrals. MLPA analysis of SHOX/PAR1 led to the identification of partial and complete SHOX duplications or multiple copies associated with LWD or ISS, suggesting that they may represent an additional class of mutations implicated in the molecular etiology of these clinical entities.

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

    Science.gov (United States)

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

    2015-12-01

    Idiopathic short stature (ISS) constitutes a heterogeneous group of short stature which is not associated with an endocrine or other identifiable cause. Some ISS patients may have varying degrees of insulin-like growth factor-1 (IGF-1) deficiency. Recombinant growth hormone (rGH) treatment has been used by some authors with variable results. Reports on long-term rGH treatment are limited. In this study, 21 slowly growing, non-GH-deficient ISS children who received rGH treatment for 3.62±0.92 years were evaluated at the end of a 5.42±1.67-year follow-up period. The study group included patients with low IGF-1 levels who also responded well to an IGF generation test. The patients were divided into two groups as good responders [height increment >1 standard deviation (SD)] and poor responders (height increment deficit and almost 40% of patients may reach their target height.

  17. Polymorphisms of the ghrelin/obestatin gene and ghrelin levels in Chinese children with short stature.

    Science.gov (United States)

    Zou, Chao Chun; Huang, Ke; Liang, Li; Zhao, Zheng Yan

    2008-07-01

    To investigate the role of ghrelin and polymorphisms of ghrelin/obestatin gene in children with short stature. A total of 117 GH deficient (GHD) and 81 idiopathic short stature (ISS) children were studied. The controls consisted of 125 age and gender-matched healthy children. The Arg51Gln, Leu72Met and Gln90Leu polymorphisms were genotyped using MassArray and total plasma ghrelin was measured by radioimmunoassay. In this study, the frequency of the Arg51Gln polymorphism was very low (0% in controls and 1.0% in patients). The frequency of the Gln90Leu polymorphism was 1.6% in controls and 0.5% in patients, respectively. Higher frequencies of Leu72Met (34.4% in controls and 39.9% in patients) and Met72Met genotypes (4.0% in controls and 2.0% in patients) were found. The differences in the Arg51Gln, Leu72Met or Gln90Leu genotypes and allele frequencies between patients and controls were not significant. Also, there were no significant differences in the Leu72Met genotypes and allele frequencies between GHD and ISS subgroups. There were no significant differences in clinical characteristics and biochemistry markers (including ghrelin levels) among the different genotypes of Leu72Met. However, plasma ghrelin levels in the GHD group were significantly lower than those of controls (P = 0.001). These results suggest that ghrelin may have a role in GH secretion and controlling growth. Lower ghrelin levels, but not ghrelin/obestatin polymorphism, might contribute to GHD.

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

    Science.gov (United States)

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

    2012-12-01

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

  19. Evaluation of short stature mutants of Basmati-370 for yield and grain quality characteristics

    International Nuclear Information System (INIS)

    Awan, M.A.; Ahmad, M.; Cheema, A.A.

    1982-01-01

    Three short stature mutants were induced in an indica rice cultivar by gamma irradiation. The mutants were assessed for their yielding ability and grain quality characteristics. All the mutants out yielded the parent variety, Basmati-370. The increase in yield of the mutants ranged from 19.37% to 29.66%. DM-2 gave the highest yield (3587.96 kg/ha) among the mutants. As regards physical, cooking and eating quality characteristics, there was no significant difference in water absorption, volume expansion ratios and stickiness among the mutants and Basmati-370. However, Basmati-370 was scored best for flavour as this variety had strong aroma as compared to its mutants which were scored for moderately strong aroma. (authors)

  20. Radiologic anthropometry of the hand in patients with familial short stature

    International Nuclear Information System (INIS)

    Cervantes, C.D.; Lifshitz, F.; Levenbrown, J.; North Shore Univ. Hospital, Manhasset, NY; Cornell Univ., New York

    1988-01-01

    Fifth metacarpal bone shortening (brachymetacarpia V) was recently described to be highly prevalent in children with familial short stature (FSS). To characterize the hand bones of FSS patients with and without brachymetacarpia V, the left hand bone age radiographs of 26 FSS children were reviewed. In 16/19 patients with clinical brachymetacarpia V radiographs revealed fifth metacarpal bone shortening with a gap of 2 mm or more between the distal end of the fifth metacarpal bone and a tangential line connecting the distal ends of the third and fourth metacarpal bones. Only one of 7 patients without clinical brachymetacarpia V had a gap of 2 mm. Radiologic anthropometry revealed that FSS patients with clinically shortened fifth metacarpal bone frequently had shortened first metacarpal bones, second and third proximal phalanges, and fifth distal phalanx as well. FSS patients without clinical fifth metacarpal bone shortening had shortened 3rd and 4th metacarpal bones, fifth proximal phalanx, and fifth distal phalanx. Fifth metacarpal bone shortening was only detected clinically if the fourth metacarpal bone was not short as well. Reduction in height correlated more with reduction in metacarpal bone length than with that of the other hand bones. These peculiar tubular bone alterations commonly seen in FSS suggest a disturbance in endochondral ossification, the process primarily involved in tubular bone elongation. (orig.)

  1. Spinal anesthesia using Taylor′s approach helps avoid general anesthesia in short stature asthmatic patient

    Directory of Open Access Journals (Sweden)

    Amarjeet Dnyandeo Patil

    2015-01-01

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

  2. Alström syndrome is associated with short stature and reduced GH reserve.

    Science.gov (United States)

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

    2013-10-01

    Alström syndrome (ALMS) is a rare autosomal recessive monogenic disease included in an emerging class of genetic disorders called 'ciliopathies' and is likely to impact the central nervous system as well as metabolic and endocrine function. Individuals with ALMS present clinical features resembling a growth hormone deficiency (GHD) condition, but thus far no study has specifically investigated this aspect in a large population. Twenty-three patients with ALMS (age, 1-52 years; 11 males, 12 females) were evaluated for anthropometric parameters (growth charts and standard deviation score (SDS) of height, weight, BMI), GH secretion by growth hormone-releasing hormone + arginine test (GHRH-arg), bone age, and hypothalamic-pituitary magnetic resonance imaging (MRI). A group of 17 healthy subjects served as controls in the GH secretion study. Longitudinal retrospective and prospective data were utilized. The length-for-age measurements from birth to 36 months showed normal growth with most values falling within -0·67 SDS to +1·28 SDS. A progressive decrease in stature-for-age was observed after 10 years of age, with a low final height in almost all ALMS subjects (>16-20 years; mean SDS, -2·22 ± 1·16). The subset of 12 patients with ALMS tested for GHRH-arg showed a significantly shorter stature than age-matched controls (154·7 ± 10·6 cm vs 162·9 ± 4·8 cm, P = 0·009) and a mild increase in BMI (Kg/m(2) ) (27·8 ± 4·8 vs 24·1 ± 2·5, P = 0·007). Peak GH after GHRH-arg was significantly lower in patients with ALMS in comparison with controls (11·9 ± 6·9 μg/l vs 86·1 ± 33·2 μg/l, P short stature reported in ALMS may be at least partially influenced by impairment of GH secretion. © 2013 John Wiley & Sons Ltd.

  3. Steel syndrome: dislocated hips and radial heads, carpal coalition, scoliosis, short stature, and characteristic facial features.

    Science.gov (United States)

    Flynn, John M; Ramirez, Norman; Betz, Randal; Mulcahey, Mary Jane; Pino, Franz; Herrera-Soto, Jose A; Carlo, Simon; Cornier, Alberto S

    2010-01-01

    A syndrome of children with short stature, bilateral hip dislocations, radial head dislocations, carpal coalitions, scoliosis, and cavus feet in Puerto Rican children, was reported by Steel et al in 1993. The syndrome was described as a unique entity with dismal results after conventional treatment of dislocated hips. The purpose of this study is to reevaluate this patient population with a longer follow-up and delineate the clinical and radiologic features, treatment outcomes, and the genetic characteristics. This is a retrospective cohort study of 32 patients in whom we evaluated the clinical, imaging data, and genetic characteristics. We compare the findings and quality of life in patients with this syndrome who have had attempts at reduction of the hips versus those who did not have the treatment. Congenital hip dislocations were present in 100% of the patients. There was no attempt at reduction in 39% (25/64) of the hips. In the remaining 61% (39/64), the hips were treated with a variety of modalities fraught with complications. Of those treated, 85% (33/39) remain dislocated, the rest of the hips continue subluxated with acetabular dysplasia and pain. The group of hips that were not treated reported fewer complaints and limitation in daily activities compared with the hips that had attempts at reduction. Steel syndrome is a distinct clinical entity characterized by short stature, bilateral hip and radial head dislocation, carpal coalition, scoliosis, cavus feet, and characteristic facial features with dismal results for attempts at reduction of the hips. Prognostic Study Level II.

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

    NARCIS (Netherlands)

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

    We report sequencing-based whole-genome association analyses to evaluate the impact of rare and founder variants on stature in 6,307 individuals on the island of Sardinia. We identify two variants with large effects. One variant, which introduces a stop codon in the GHR gene, is relatively frequent

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

    Directory of Open Access Journals (Sweden)

    Deep Dutta

    2012-01-01

    Full Text Available 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.

  6. Initiation of growth hormone therapy in idiopathic short stature: do gender differences exist?

    Science.gov (United States)

    Ben-Ari, Tal; Lebenthal, Yael; Phillip, Moshe; Lazar, Liora

    2015-01-01

    Growth hormone (GH) registries indicate that boys receive preferential GH treatment for idiopathic short stature (ISS). The aim was to determine whether age, auxological parameters, pubertal status, and target height differ between genders at GH initiation. Review of the computerized files of the endocrine department of a tertiary pediatric medical center identified 184 patients who started GH therapy for ISS between 2003-2011. Data on auxologic parameters, predicted height, parental height, and pubertal status were collected and compared between boys and girls. Boys accounted for a significantly higher percentage of the study group (65.8%, pdeficit, and pubertal status at onset of GH treatment in boys and girls suggests that gender differences do not exist. Male predominance may stem from family preferences to treat boys. Future studies are warranted to assess the psychosocial aspects in the decision to initiate therapy.

  7. Parental perception of health-related quality of life in children and adolescents with short stature: literature review and introduction of the parent-reported QoLISSY instrument.

    Science.gov (United States)

    Quitmann, Julia; Rohenkohl, Anja; Bullinger, Monika; Chaplin, John E; Herdman, Michael; Sanz, Dolores; Mimoun, Emmanuelle; Feigerlova, Eva; DeBusk, Kendra; Power, Michael; Wollmann, Hartmut; Pleil, Andreas

    2013-12-01

    Health-related quality of life (HrQoL) of the child diagnosed with short stature is an important outcome to be assessed both from the patient as well as from the parental perspective. The objective of this study was to review the literature on parent-reported HrQoL and to subsequently develop and psychometrically test the parent-reported version of the Quality of Life in Short Stature Youth (QoLISSY) instrument for use in clinical and epidemiologic research. A review of the literature on parental assessment of child HrQoL via PUBMED was followed by a psychometric analysis of data collected within the European QoLISSY study, in which 686 eligible parents of short statured children/adolescents (aged 4-18 years) meeting inclusion criteria participated. Patient inclusion criteria were a height below -2 SD, a diagnosis of growth hormone deficiency (GHD) or idiopathic short stature (ISS), and treatment status in terms of receiving or not receiving recombinant human growth hormone therapy. Focus groups eliciting parental HrQoL statements, pilot testing with cognitive debriefing, and a field test in 317 parents with a retest in 148 parents were conducted simultaneously in France, Germany, Spain, Sweden and the UK. The psychometric performance of the parent-reported instrument, developed in parallel to the child/ adolescent self-report version, was assessed using standard tests of reliability and validity. Literature search failed to identify a cross-culturally developed height specific instrument available for both patient self-report and parental observer report. Analysis of the QoLISSY focus group phase conducted separately in children, adolescents and parents yielded 169 items generated from parent focus groups. A cognitive debriefing exercise followed by a pilot test of preliminary psychometric characteristics resulted in deleting poorly performing items. Field testing of the parent-reported version suggested a three-domain core HrQoL structure with 22 items

  8. Optic nerve size evaluated by magnetic resonance imaging in children with optic nerve hypoplasia, multiple pituitary hormone deficiency, isolated growth hormone deficiency, and idiopathic short stature.

    Science.gov (United States)

    Birkebaek, Niels Holtum; Patel, Leena; Wright, Neville Bryce; Grigg, John Russell; Sinha, Smeeta; Hall, Catherine Margaret; Price, David Anthony; Lloyd, Ian Christopher; Clayton, Peter Ellis

    2004-10-01

    To objectively define criteria for intracranial optic nerve (ON) size in ON hypoplasia (ONH) on magnetic resonance imaging (MRI) scans. Intracranial ON sizes from MRI were compared between 46 children with ONH diagnosed by ophthalmoscopy (group 1, isolated ONH, 8 children; and group 2, ONH associated with abnormalities of the hypothalamic-pituitary axis and septum pellucidum, 38 children) and children with multiple pituitary hormone deficiency (group 3, multiple pituitary hormone deficiency, 14 children), isolated growth hormone deficiency (group 4, isolated growth hormone deficiency, 15 children), and idiopathic short stature (group 5, idiopathic short stature, 10 children). Intracranial ON size was determined by the cross-sectional area, calculated as [pi x (1/2) height x (1/2) width]. Groups 1 and 2 had lower intracranial ON size than did groups 3, 4, and 5 (P imaging of the ONs with cross-sectional area short child more than 12 months of age, with or without hypothalamic-pituitary axis abnormalities, confirms the clinical diagnosis of ONH.

  9. Cross-cultural equivalence of the patient- and parent-reported quality of life in short stature youth (QoLISSY) questionnaire.

    Science.gov (United States)

    Bullinger, Monika; Quitmann, Julia; Silva, Neuza; Rohenkohl, Anja; Chaplin, John E; DeBusk, Kendra; Mimoun, Emmanuelle; Feigerlova, Eva; Herdman, Michael; Sanz, Dolores; Wollmann, Hartmut; Pleil, Andreas; Power, Michael

    2014-01-01

    Testing cross-cultural equivalence of patient-reported outcomes requires sufficiently large samples per country, which is difficult to achieve in rare endocrine paediatric conditions. We describe a novel approach to cross-cultural testing of the Quality of Life in Short Stature Youth (QoLISSY) questionnaire in five countries by sequentially taking one country out (TOCO) from the total sample and iteratively comparing the resulting psychometric performance. Development of the QoLISSY proceeded from focus group discussions through pilot testing to field testing in 268 short-statured patients and their parents. To explore cross-cultural equivalence, the iterative TOCO technique was used to examine and compare the validity, reliability, and convergence of patient and parent responses on QoLISSY in the field test dataset, and to predict QoLISSY scores from clinical, socio-demographic and psychosocial variables. Validity and reliability indicators were satisfactory for each sample after iteratively omitting one country. Comparisons with the total sample revealed cross-cultural equivalence in internal consistency and construct validity for patients and parents, high inter-rater agreement and a substantial proportion of QoLISSY variance explained by predictors. The TOCO technique is a powerful method to overcome problems of country-specific testing of patient-reported outcome instruments. It provides an empirical support to QoLISSY's cross-cultural equivalence and is recommended for future research.

  10. EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome.

    Science.gov (United States)

    Li, Chuan; Chen, Rongyu; Fan, Xin; Luo, Jingsi; Qian, Jiale; Wang, Jin; Xie, Bobo; Shen, Yiping; Chen, Shaoke

    2015-04-11

    Waardenburg syndrome type I (WS1), an auditory-pigmentary genetic disorder, is caused by heterozygous loss-of-function mutations in PAX3. Abnormal physical signs such as dystopia canthorum, patchy hypopigmentation and sensorineural hearing loss are common, but short stature is not associated with WS1. We reported a 4-year and 6 month-old boy with a rare combination of WS1 and severe short stature (83.5 cm (-5.8SD)). His facial features include dystopia canthorum, mild synophrys, slightly up-slanted palpebral fissure, posteriorly rotated ears, alae nasi hypoplasia and micrognathia. No heterochromia was noticed. He had a normal intelligence quotient and hearing. Insulin-like growth factor-1 (IGF-1) was 52.7 ng/ml, lower than the normal range (55 ~ 452 ng/ml) and the peak growth hormone level was 7.57 ng/ml at 90 minutes after taking moderate levodopa and pyridostigmine bromide. The patient exhibited a good response to human growth hormone (rhGH) replacement therapy, showing a 9.2 cm/year growth rate and an improvement of 1 standard deviation (SD) of height after one year treatment. CMA test of patient's DNA revealed a 4.46 Mb de novo deletion at 2q35-q36.2 (hg19; chr2:221,234,146-225,697,363). PAX3 haploinsufficiency is known to cause Waardenburg syndrome. Examining overlapping deletions in patients led to the conclusion that EPHA4 is a novel short stature gene. The finding is supported by the splotch-retarded and epha4 knockout mouse models which both showed growth retardation. We believe this rare condition is caused by the haploinsufficiency of both PAX3 and EPH4 genes. We further reported a growth response to recombinant human growth hormone treatment in this patient.

  11. [Unconsciousness due to hyponatremia in a patient with short stature with panhypopituitarism].

    Science.gov (United States)

    Notsu, K; Takagi, C; Umaki, I

    1995-03-20

    An unconscious woman of short stature (141 cm) was admitted to our hospital in March, 1994. She had hyponatremia (120 mEq/l) and had experienced massive bleeding during delivery. No increment of either plasma ACTH or cortisol levels was observed after insulin-induced hypoglycemia. However, urinary 17OHCS levels gradually increased after repeated intramuscular injections of ACTH. Plasma free T3 and free T4 levels were low. Neither plasma TSH nor prolactin (PRL) levels increased after an intravenous injection of TRH. Basal plasma LH, FSH and growth hormone (GH) levels were low and there were no observable responses to any of the stimulation tests. A magnetic resonance image (MRI) of her pituitary gland showed an empty sella. These results showed that she had a panhypopituitarism with primary empty sella. Replacement therapy with glucocorticoid was started and serum sodium levels normalized immediately. Levothyroxine was also administered. The possibility of pituitary dwarfism during her youth and a gradual postpartum reduction of other pituitary hormones may have caused an impairment of the hypothalamo-pituitary-adrenal axis.

  12. Pituitary volume in children with growth hormone deficiency, idiopathic short stature and controls.

    Science.gov (United States)

    Kessler, Marion; Tenner, Michael; Frey, Michael; Noto, Richard

    2016-10-01

    The objective of the study was to describe the pituitary volume (PV) in pediatric patients with isolated growth hormone deficiency (IGHD), idiopathic short stature (ISS) and normal controls. Sixty-nine patients (57 male, 12 female), with a mean age of 11.9 (±2.0), were determined to have IGHD. ISS was identified in 29 patients (20 male, 9 female), with a mean age of 12.7 (±3.7). Sixty-six controls (28 female, 38 male), mean age 9.8 (±4.7) were also included. Three-dimensional (3D) magnetic resonance images with contrast were obtained to accurately measure PV. There was a significant difference in the mean PV among the three groups. The IGHD patients had a mean PV 230.8 (±89.6), for ISS patients it was 286.8 (±108.2) and for controls it was 343.7 (±145.9) (pimaging (MRI) could assist in the diagnostic evaluation of the slowly growing child.

  13. Influence of gestational weight gain on low birth weight in short-statured South Indian pregnant women.

    Science.gov (United States)

    Shivakumar, Nirupama; Dwarkanath, Pratibha; Bosch, Ronald; Duggan, Christopher; Kurpad, Anura V; Thomas, Tinku

    2018-05-01

    India contributes to one-third of the global burden of low birth weight (LBW) neonates, which is associated with increased risk of mortality and adverse consequences on long-term health. Factors leading to LBW are multidimensional and maternal short stature is an important component with an inter-generational effect. On the contrary gestational weight gain (GWG) shows an independent positive influence on birth weight. The aim of the present study therefore was to determine the influence of GWG on birth weight in short pregnant women. A prospective observational cohort of 1254 pregnant women was studied. Total, second and third trimester GWG per week were computed. Women were divided into two groups, "short" and "not-short", using a cut off of 152 cm that corresponded to the 25th percentile for height in the cohort. Association of tertiles of GWG with LBW was examined using log binomial regression analysis. "Short" women in highest tertile of total GWG had a significantly reduced adjusted relative risk (ARR 0.37, 95% confidence interval 0.16-0.83, P = 0.016) for LBW, compared to the lowest tertile. However, there was no significant increase in risk for cesarean section (CS) with increasing tertiles of total GWG. In women with height women may be beneficial for the birth weight of the offspring.

  14. Short Maternal Stature Increases Risk of Small-for-Gestational-Age and Preterm Births in Low- and Middle-Income Countries: Individual Participant Data Meta-Analysis and Population Attributable Fraction.

    Science.gov (United States)

    Kozuki, Naoko; Katz, Joanne; Lee, Anne C C; Vogel, Joshua P; Silveira, Mariangela F; Sania, Ayesha; Stevens, Gretchen A; Cousens, Simon; Caulfield, Laura E; Christian, Parul; Huybregts, Lieven; Roberfroid, Dominique; Schmiegelow, Christentze; Adair, Linda S; Barros, Fernando C; Cowan, Melanie; Fawzi, Wafaie; Kolsteren, Patrick; Merialdi, Mario; Mongkolchati, Aroonsri; Saville, Naomi; Victora, Cesar G; Bhutta, Zulfiqar A; Blencowe, Hannah; Ezzati, Majid; Lawn, Joy E; Black, Robert E

    2015-11-01

    Small-for-gestational-age (SGA) and preterm births are associated with adverse health consequences, including neonatal and infant mortality, childhood undernutrition, and adulthood chronic disease. The specific aims of this study were to estimate the association between short maternal stature and outcomes of SGA alone, preterm birth alone, or both, and to calculate the population attributable fraction of SGA and preterm birth associated with short maternal stature. We conducted an individual participant data meta-analysis with the use of data sets from 12 population-based cohort studies and the WHO Global Survey on Maternal and Perinatal Health (13 of 24 available data sets used) from low- and middle-income countries (LMIC). We included those with weight taken within 72 h of birth, gestational age, and maternal height data (n = 177,000). For each of these studies, we individually calculated RRs between height exposure categories of < 145 cm, 145 to < 150 cm, and 150 to < 155 cm (reference: ≥ 155 cm) and outcomes of SGA, preterm birth, and their combination categories. SGA was defined with the use of both the International Fetal and Newborn Growth Consortium for the 21st Century (INTERGROWTH-21st) birth weight standard and the 1991 US birth weight reference. The associations were then meta-analyzed. All short stature categories were statistically significantly associated with term SGA, preterm appropriate-for-gestational-age (AGA), and preterm SGA births (reference: term AGA). When using the INTERGROWTH-21st standard to define SGA, women < 145 cm had the highest adjusted risk ratios (aRRs) (term SGA-aRR: 2.03; 95% CI: 1.76, 2.35; preterm AGA-aRR: 1.45; 95% CI: 1.26, 1.66; preterm SGA-aRR: 2.13; 95% CI: 1.42, 3.21). Similar associations were seen for SGA defined by the US reference. Annually, 5.5 million term SGA (18.6% of the global total), 550,800 preterm AGA (5.0% of the global total), and 458,000 preterm SGA (16.5% of the global total) births may be associated

  15. Autologous fat graft as treatment of post short stature surgical correction scars.

    Science.gov (United States)

    Maione, Luca; Memeo, Antonio; Pedretti, Leopoldo; Verdoni, Fabio; Lisa, Andrea; Bandi, Valeria; Giannasi, Silvia; Vinci, Valeriano; Mambretti, Andrea; Klinger, Marco

    2014-12-01

    Surgical limb lengthening is undertaken to correct pathological short stature. Among the possible complications related to this procedure, painful and retractile scars are a cause for both functional and cosmetic concern. Our team has already shown the efficacy of autologous fat grafting in the treatment of scars with varying aetiology, so we decided to apply this technique to scars related to surgical correction of dwarfism. A prospective study was conducted to evaluate the efficacy of autologous fat grafting in the treatment of post-surgical scars in patients with short-limb dwarfism using durometer measurements and a modified patient and observer scar assessment scale (POSAS), to which was added a parameter to evaluate movement impairment. Between January 2009 and September 2012, 36 children (28 female and 8 male) who presented retractile and painful post-surgical scars came to our unit and were treated with autologous fat grafting. Preoperative and postoperative mean durometer measurements were analysed using the analysis of variance (ANOVA) test and POSAS parameters were studied using the Wilcoxon rank sum test. There was a statistically significant reduction in all durometer measurements (p-value treatment with autologous fat grafting. Surgical procedures to camouflage scars on lower limbs are not often used as a first approach and non-surgical treatments often lead to unsatisfactory results. In contrast, our autologous fat grafting technique in the treatment of post-surgical scars has been shown to be a valuable option in patients with short-limb dwarfism. There was a reduction of skin hardness and a clinical improvement of all POSAS parameters in all patients treated. Moreover, the newly introduced POSAS parameter appears to be reliable and we recommend that it is included to give a more complete evaluation of patient perception. Copyright © 2014 Elsevier Ltd. All rights reserved.

  16. Evaluation of insulin-like growth factor-1 and insulin like growth factor binding protein-3 in diagnosis of growth hormone deficiency in short-stature children

    International Nuclear Information System (INIS)

    Ali, A.; Hashim, R.; Khan, F.A.; Sattar, A.; Ijaz, A.; Manzoor, S.M.; Younas, M.

    2009-01-01

    Growth Hormone Deficiency (GHD) is conventionally diagnosed and confirmed by diminished peak Growth Hormone (GH) levels to provocative testing. Serum Insulin-like growth factor-1 (IGF-1) and insulin-like growth factor binding protein-3 (IGFBP-3) are under the influence of GH and reflect the spontaneous endogenous GH secretion. Owing to the absence of a circadian rhythm, it is possible to take individual measurements of IGF-1 and IGFBP-3 at any time of the day for evaluation of GH status instead of subjecting the individual to cumbersome provocative tests. Objectives of this study were to compare IGF-1 and IGFBP-3 assays with Exercise and L-Dopa stimulation tests in the diagnosis of growth hormone deficiency in short stature children using ITT as gold standard. Methods: This validation study was conducted at Department of Chemical Pathology and Endocrinology, AFIP, Rawalpindi, from November 2005 to October 2006. Fifty-two short stature children were included in the study. Basal samples for GH levels and simultaneous IGF-1 and IGFBP-3 measurements were obtained and afterwards all children were subjected to sequential exercise and LDopa stimulation tests. Insulin Tolerance Test (ITT) was performed one week later with all the necessary precautionary measures. On the basis of ITT results, children were divided into two groups, i.e., 31 growth hormone deficient and 21 Normal Variant Short Stature (NVSS). Results: The diagnostic value of exercise stimulation test remained highest with sensitivity 90.3%, specificity 76.0%, Positive Predictive Value (PPV) 84.84%, Negative Predictive Value (NPV) 84.2% and accuracy 84.6%. The conventional L-Dopa stimulation had sensitivity 96.7%, specificity 38.0%, PPV 69.7%, NPV 88.8 % and accuracy 73.0%. The serum IGF-1 and IGFBP-3 levels were positively correlated with post ITT peak GH levels (r= 0.527, r=0.464 respectively, both p<0.001). The diagnostic value of IGF-1 had sensitivity 83.87%, specificity 76.2%, PPV 83.87%, NPV 76.2% and

  17. Explaining parent-child (dis)agreement in generic and short stature-specific health-related quality of life reports: do family and social relationships matter?

    Science.gov (United States)

    Quitmann, Julia; Rohenkohl, Anja; Sommer, Rachel; Bullinger, Monika; Silva, Neuza

    2016-10-21

    In the context of health-related quality of life (HrQoL) assessment in pediatric short stature, the present study aimed to examine the levels of agreement/disagreement between parents' and children's reports of generic and condition-specific HrQoL, and to identify socio-demographic, clinical and psychosocial variables associated with the extent and direction of parent-child discrepancies. This study was part of the retest phase of the QoLISSY project, which was a multicenter study conducted simultaneously in France, Germany, Spain, Sweden and UK. The sample comprised 137 dyads of children/adolescents between 8 and 18 years of age, diagnosed with growth hormone deficiency (GHD) or idiopathic short stature (ISS), and one of their parents. The participants completed child- and parent-reported questionnaires on generic (KIDSCREEN-10 Index) and condition-specific HrQoL (QoLISSY Core Module). Children/adolescents also reported on social support (Oslo 3-items Social Support Scale) and parents assessed the parent-child relationships (Parental Role subscale of the Social Adjustment Scale) and burden of short stature on parents (QoLISSY- additional module). The parent-child agreement on reported HrQoL was strong (intraclass correlation coefficients between .59 and .80). The rates of parent-child discrepancies were 61.5 % for generic and 35.2 % for condition-specific HrQoL, with the parents being more prone to report lower generic (42.3 %) and condition-specific HrQoL (23.7 %) than their children. The extent of discrepancies was better explained by family and social relationships than by clinical and socio-demographic variables: poorer parent-child relationships and better children's social support were associated with larger discrepancies in generic HrQoL, while more parental burden was associated with larger discrepancies in condition-specific HrQoL reports. Regarding the direction of discrepancies, higher parental burden was significantly associated with parents

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

    Science.gov (United States)

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

    2010-09-01

    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. Copyright 2010 Wiley-Liss, Inc.

  19. Premature ovarian failure, short stature, and Hashimoto's disease in an 18-year-old adolescent girl with 46, X, i(X)(q10).

    Science.gov (United States)

    Hu, Xiang; Zhang, Qiao; Gao, Feng; Chen, Lu-Lu

    2018-04-22

    Premature ovarian failure (POF) is a heterogeneous condition affecting girls and women. We detected a previously healthy 18-year-old adolescent girl, presented with amenorrhea over six months, as well as circulating levels of estradiol lower decreased and follicle-stimulating hormone (FSH) increased. She was 138 cm tall. Results of laboratory tests and/or ultrasound investigations showed 46, X, i(X)(q10) karyotype and Hashimoto's disease. This case suggests that pubertal onset and progression, as well as karyotype analysis, should be evaluated in girls with Hashimoto's disease and short stature.

  20. Stylistic Analysis of the Short Story "The Last Word" by Dr. A. R. Tabassum

    Science.gov (United States)

    Bari Khan, Abdul; Ahmad, Madiha; Ahmad, Sofia; Ijaz, Nida

    2015-01-01

    In this article stylistic analysis of short story "The Last Word" by Dr. A. R. Tabassum is performed. The formative elements of the story, such as point of view, characters and allegorical element, are discussed in detail so as to give a better insight of the story. The story is analyzed stylistically in terms of figures of speech where…

  1. ESTIMATION OF STATURE BASED ON FOOT LENGTH

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    Vidyullatha Shetty

    2015-01-01

    Full Text Available BACKGROUND : Stature is the height of the person in the upright posture. It is an important measure of physical identity. Estimation of body height from its segments or dismember parts has important considerations for identifications of living or dead human body or remains recovered from disasters or other similar conditions. OBJECTIVE : Stature is an important indicator for identification. There are numerous means to establish stature and their significance lies in the simplicity of measurement, applicability and accuracy in prediction. Our aim of the study was to review the relationship between foot length and body height. METHODS : The present study reviews various prospective studies which were done to estimate the stature. All the measurements were taken by using standard measuring devices and standard anthropometric techniques. RESULTS : This review shows there is a correlation between stature and foot dimensions it is found to be positive and statistically highly significant. Prediction of stature was found to be most accurate by multiple regression analysis. CONCLUSIONS : Stature and gender estimation can be done by using foot measurements and stud y will help in medico - legal cases in establishing identity of an individual and this would be useful for Anatomists and Anthropologists to calculate stature based on foot length

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

    Science.gov (United States)

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

    2014-08-01

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

  3. Is the association between short stature and myocardial infarction explained by childhood exposures--a population-based case referent study (SHEEP)

    DEFF Research Database (Denmark)

    Lundberg, Michael; Diderichsen, Finn; Hallqvist, Johan

    2002-01-01

    AIMS: This study was undertaken to examine the association between short stature and acute non-fatal myocardial infarction and to analyse causal mechanisms related to height with a focus on childhood risk factors. METHOD: The SHEEP (Stockholm Heart Epidemiology Program) is a population-based case......-referent study. The outcome was incident first events of myocardial infarction. The study base included all Swedish citizens aged 45 to 70, who lived in Stockholm County during 1992-94. This analysis is based on 967 male cases, 412 female cases and 1696 referents. Exposure information was obtained through...... questionnaires, interviews, health examinations, and obstetric records. RESULTS: Adult height was inversely related to myocardial infarction. The odds ratio for men in the shortest quartile (

  4. Estimation of Stature from Foot Dimensions and Stature among South Indian Medical Students Using Regression Models

    Directory of Open Access Journals (Sweden)

    Rajesh D. R

    2015-01-01

    Full Text Available Background: At times fragments of soft tissues are found disposed off in the open, in ditches at the crime scene and the same are brought to forensic experts for the purpose of identification and such type of cases pose a real challenge. Objectives: This study was aimed at developing a methodology which could help in personal identification by studying the relation between foot dimensions and stature among south subjects using regression models. Material and Methods: Stature and foot length of 100 subjects (age range 18-22 years were measured. Linear regression equations for stature estimation were calculated. Result: The correlation coefficients between stature and foot lengths were found to be positive and statistically significant. Height = 98.159 + 3.746 × FLRT (r = 0.821 and Height = 91.242 + 3.284 × FLRT (r = 0.837 are the regression formulas from foot lengths for males and females respectively. Conclusion: The regression equation derived in the study can be used reliably for estimation of stature in a diverse population group thus would be of immense value in the field of personal identification especially from mutilated bodies or fragmentary remains.

  5. [Living with achondroplasia- how do young persons with disproportional short stature rate their quality of life and which factors are associated with quality of life?].

    Science.gov (United States)

    Rohenkohl, Anja C; Sommer, Rachel; Bestges, Stephanie; Kahrs, Sabine; Klingebiel, Karl-Heinz; Bullinger, Monika; Quitmann, Julia

    2015-11-01

    Presently, little is known aqout the quality of life (QoL) as well as the strengths and difficulties of young people with achondroplasia. This study describes these patient-reported indicators and identifies possible correlates. At the invitation of a patient organization, a total of 89 short-statured patients aged 8 to 28 years and their parents participated in this study. QoL was assessed cross-sectionally with both generic and disease-specific instruments and the Strengths and Difficulties Questionnaire (SDQ) as a brief behavioral screening. In addition to descriptive analyses, patient data were compared with a reference population. Hierarchical regression analyses reflecting sociodemographic, clinical, and psychological variables were conducted to identify correlates of QoL. QoL and the strengths and difficulties of young patients with achondroplasia did not differ substantially from a healthy norm sample. However, the participants reported more behavioral problems and limitations in their physical and social QoL compared to patients with another short stature diagnosis. Strengths and difficulties, height-related beliefs, and social support correlated significantly with QoL. Adding psychological variables to the regression model increased the proportion of variance explained in QoL. Young persons with achondroplasia did not differ in their QoL and strengths and difficulties from healthy controls. Characteristics such as height appear less important for the self-perceived QoL than are strengths and difficulties and protective psychosocia~factors.

  6. Statures of 19th century Chinese males in America.

    Science.gov (United States)

    Carson, Scott Alan

    2007-01-01

    This study considers statures of 19th century male Chinese immigrant to the American West and assesses how their personal characteristics were related with stature variation. The subjects were 1423 male Chinese prisoners received between 1850 and 1920 in the Arizona, California, Colorado, Idaho, New Mexico, Oregon, Utah and Washington state prisons. The study compares 19th century Chinese inmate statures with other studies and employs stature regression models on time, socio-economic status and residence within the USA to account for biological variation. Between 1830 and 1870, Chinese youth male stature declined by over 2 cm. Between 1820 and 1860, Chinese adult male stature also declined by over 2 cm. Chinese stature did not vary with socio-economic status or residence. Nineteenth century Chinese emigrant statures were influenced more by political and economic events than socio-economic status, and male emigrants' biological conditions may have deteriorated throughout the 19th century.

  7. Stylistic Analysis of the Short Story ‘The Last Word’ by Dr. A. R. Tabassum

    Directory of Open Access Journals (Sweden)

    Abdul Bari Khan

    2015-06-01

    Full Text Available In this article stylistic analysis of short story ‘The Last Word’ by Dr. A. R. Tabassum is performed.  The formative elements of the story, such as point of view, characters and allegorical element, are discussed in detail so as to give a better insight of the story. The story is analyzed stylistically in terms of figures of speech where grammatical, lexical and phonological schemes are considered, following the checklist of linguistic and stylistic categories proposed by Leech and Short. Features of repetition, parallelism, alliteration, consonance, assonance and rhyme are focused on. Finally, the findings and conclusion is given to sum up the discussion. Keywords: stylistics, analysis, short story, last word, allegory, Tabassum

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

    Science.gov (United States)

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

    2010-05-01

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

  9. Dose response association of pregnancy cigarette smoke exposure, childhood stature, overweight and obesity

    NARCIS (Netherlands)

    Koshy, Gibby; Delpisheh, Ali; Brabin, Bernard J.

    2011-01-01

    The combined dose response effects of pregnancy cigarette smoke exposure on childhood overweight, obesity and short stature have not been reported. A community based cross-sectional survey of 3038 children aged 5-11 years from 15 primary schools in Merseyside, UK. Self-completed parental

  10. Lactose intolerance: lack of evidence for short stature or vitamin D deficiency in prepubertal children.

    Directory of Open Access Journals (Sweden)

    Nithya Setty-Shah

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

  11. Use of magnetic resonance imaging in short stature: data from National Cooperative Growth Study (NCGS) Substudy 8.

    Science.gov (United States)

    Kemp, Stephen F; Alter, Craig A; Dana, Ken; Baptista, Joyce; Blethen, Sandra L

    2002-05-01

    The primary use of magnetic resonance imaging (MRI) in the evaluation of children with short stature (SS) is to discover lesions in the central nervous system (CNS), particularly tumors that may require intervention. MRI has a secondary role in identifying structural abnormalities responsible for growth hormone deficiency (GHD). We examined data from the National Cooperative Growth Study (NCGS) Substudy 8 to determine how American physicians are using MRI in evaluating children with SS. Of the 21,738 short children enrolled in NCGS, 5% underwent MRI during their follow-up. Children who had GH stimulation testing were more likely to have had an MRI than those in whom no GH stimulation test was performed (19% vs 2%, p 10 ng/ml), respectively. Abnormalities unrelated to the hypothalamus or pituitary represented 30% of these findings, while disorders in pituitary anatomy, including pituitary hypoplasia, pituitary stalk interruption, and ectopic posterior pituitary, represented an additional 30% of abnormal MRI examinations. CNS tumors comprised 23% of abnormal findings in these patients. We conclude that MRI provides significant value in the evaluation of children with SS, by identifying CNS tumors associated with growth failure as well as anatomical abnormalities of the pituitary. These findings are useful in confirming the diagnosis of GHD in children and identifying potential candidates for continued GH replacement in adulthood.

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

    Science.gov (United States)

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

    2010-07-01

    Over the past 40 years, tourism-based economic development has transformed social and economic conditions in the Yucatan Peninsula, Mexico. We address how these changes have influenced anthropometric indicators of growth and nutritional status in Yalcoba, a Mayan farming community involved in the circular migration of labor in the tourist economy. Data are presented on stature and weight for children measured in 1938 in the Yucatan Peninsula and from 1987 to 1998 in the Mayan community of Yalcoba. In addition, stature, weight and BMI are presented for adults in Yalcoba based on clinic records. Childhood stature varied little between 1938 and 1987. Between 1987 and 1998 average male child statures increased by 2.6cm and female child statures increased by 2.7cm. Yet, 65% of children were short for their ages. Between 1987 and 1998, average child weight increased by 1.8kg. Child BMIs were similar to US reference values and 13% were considered to be above average for weight. Forty percent of adult males and 64% of females were overweight or obese. The anthropometric data from Yalcoba suggest a pattern of stunted children growing into overweight adults. This pattern is found elsewhere in the Yucatan and in much of the developing world where populations have experienced a nutrition transition toward western diets and reduced physical activity levels. 2010 Elsevier B.V. All rights reserved.

  13. Non-linear associations between stature and mate choice characteristics for American men and their spouses

    NARCIS (Netherlands)

    Stulp, G.; Mills, M.; Pollet, T.V.; Barrett, L.

    2014-01-01

    Objectives: Although male height is positively associated with many aspects of mate quality, average height men attain higher reproductive success in US populations. We hypothesize that this is because the advantages associated with taller stature accrue mainly from not being short, rather than from

  14. Non-Linear Associations between Stature and Mate Choice Characteristics for American Men and their Spouses

    NARCIS (Netherlands)

    Stulp, Gert; Mills, Melinda; Pollet, Thomas V.; Barrett, Louise

    2014-01-01

    Objectives: Although male height is positively associated with many aspects of mate quality, average height men attain higher reproductive success in US populations. We hypothesize that this is because the advantages associated with taller stature accrue mainly from not being short, rather than from

  15. A practical method of estimating stature of bedridden female nursing home patients.

    Science.gov (United States)

    Muncie, H L; Sobal, J; Hoopes, J M; Tenney, J H; Warren, J W

    1987-04-01

    Accurate measurement of stature is important for the determination of several nutritional indices as well as body surface area (BSA) for the normalization of creatinine clearances. Direct standing measurement of stature of bedridden elderly nursing home patients is impossible, and stature as recorded in the chart may not be valid. An accurate stature obtained by summing five segmental measurements was compared to the stature recorded in the patient's chart and calculated estimates of stature from measurement of a long bone (humerus, tibia, knee height). Estimation of stature from measurement of knee height was highly correlated (r = 0.93) to the segmental measurement of stature while estimates from other long-bone measurements were less highly correlated (r = 0.71 to 0.81). Recorded chart stature was poorly correlated (r = 0.37). Measurement of knee height provides a simple, quick, and accurate means of estimating stature for bedridden females in nursing homes.

  16. Progressive Decline in Height Standard Deviation Scores in the First 5 Years of Life Distinguished Idiopathic Growth Hormone Deficiency from Familial Short Stature and Constitutional Delay of Growth.

    Science.gov (United States)

    Rothermel, Juliane; Lass, Nina; Toschke, Christina; Reinehr, Thomas

    2016-01-01

    Familial short stature (FSS) and constitutional delay of growth (CDG) are the most frequent norm variants in children presenting with short stature. Knowing the growth patterns of these entities in the first years of life might be helpful to distinguish them from growth hormone deficiency (GHD) or other chronic diseases. We studied the height in the first 5 years of life in 26 children with FSS, in 38 children with CDG and in 14 children with idiopathic GHD. Height standard deviation scores (SDS) did not change between birth and 6 months of life, while height SDS decreased significantly afterwards in GHD, FSS, and CDG. The loss of height SDS was higher in the first 2 years of life than between 2 and 5 years of life in children with CDG (-0.92 vs. -0.11; p = 0.003) or FSS (-0.79 vs. -0.01; p = 0.002). In idiopathic GHD, the loss of height SDS did not differ between the first 2 years of life and the next 3 years (-0.78 vs. -0.77; p = 0.821). Children with FSS and CDG showed a decline in height SDS mainly in the first 2 years of life, whereas the height SDS of children with idiopathic GHD decreased almost continuously over the first 5 years of life. © 2016 S. Karger AG, Basel.

  17. Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism

    KAUST Repository

    Alsemari, Abdulaziz

    2017-11-14

    Most mitochondrial and cytoplasmic aminoacyl-tRNA synthetases (aaRSs) are encoded by nuclear genes. Syndromic disorders resulting from mutation of aaRSs genes display significant phenotypic heterogeneity. We expand aaRSs-related phenotypes through characterization of the clinical and molecular basis of a novel autosomal-recessive syndrome manifesting severe mental retardation, ataxia, speech impairment, epilepsy, short stature, microcephaly, hypogonadism, and growth hormone deficiency.A G>A variant in exon 29 of VARS2 (c.3650G>A) (NM_006295) was identified in the index case. This homozygous variant was confirmed by Sanger sequencing and segregated with disease in the family studied. The c.3650G>A change results in alteration of arginine to histidine at residue 1217 (R1217H) of the mature protein and is predicted to be pathogenic.These findings contribute to a growing list of aaRSs disorders, broadens the spectrum of phenotypes attributable to VARS2 mutations, and provides new insight into genotype-phenotype correlations among the mitochondrial synthetase genes.

  18. Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism

    KAUST Repository

    Alsemari, Abdulaziz; Al-Younes, Banan; Goljan, Ewa; Jaroudi, Dyala; BinHumaid, Faisal; Meyer, Brian F.; Arold, Stefan T.; Monies, Dorota

    2017-01-01

    Most mitochondrial and cytoplasmic aminoacyl-tRNA synthetases (aaRSs) are encoded by nuclear genes. Syndromic disorders resulting from mutation of aaRSs genes display significant phenotypic heterogeneity. We expand aaRSs-related phenotypes through characterization of the clinical and molecular basis of a novel autosomal-recessive syndrome manifesting severe mental retardation, ataxia, speech impairment, epilepsy, short stature, microcephaly, hypogonadism, and growth hormone deficiency.A G>A variant in exon 29 of VARS2 (c.3650G>A) (NM_006295) was identified in the index case. This homozygous variant was confirmed by Sanger sequencing and segregated with disease in the family studied. The c.3650G>A change results in alteration of arginine to histidine at residue 1217 (R1217H) of the mature protein and is predicted to be pathogenic.These findings contribute to a growing list of aaRSs disorders, broadens the spectrum of phenotypes attributable to VARS2 mutations, and provides new insight into genotype-phenotype correlations among the mitochondrial synthetase genes.

  19. Family size, the physical environment, and socioeconomic effects across the stature distribution.

    Science.gov (United States)

    Carson, Scott Alan

    2012-04-01

    A neglected area in historical stature studies is the relationship between stature and family size. Using robust statistics and a large 19th century data set, this study documents a positive relationship between stature and family size across the stature distribution. The relationship between material inequality and health is the subject of considerable debate, and there was a positive relationship between stature and wealth and an inverse relationship between stature and material inequality. After controlling for family size and wealth variables, the paper reports a positive relationship between the physical environment and stature. Copyright © 2012 Elsevier GmbH. All rights reserved.

  20. Estimation of stature from sternum - Exploring the quadratic models.

    Science.gov (United States)

    Saraf, Ashish; Kanchan, Tanuj; Krishan, Kewal; Ateriya, Navneet; Setia, Puneet

    2018-04-14

    Identification of the dead is significant in examination of unknown, decomposed and mutilated human remains. Establishing the biological profile is the central issue in such a scenario, and stature estimation remains one of the important criteria in this regard. The present study was undertaken to estimate stature from different parts of the sternum. A sample of 100 sterna was obtained from individuals during the medicolegal autopsies. Length of the deceased and various measurements of the sternum were measured. Student's t-test was performed to find the sex differences in stature and sternal measurements included in the study. Correlation between stature and sternal measurements were analysed using Karl Pearson's correlation, and linear and quadratic regression models were derived. All the measurements were found to be significantly larger in males than females. Stature correlated best with the combined length of sternum, among males (R = 0.894), females (R = 0.859), and for the total sample (R = 0.891). The study showed that the models derived for stature estimation from combined length of sternum are likely to give the most accurate estimates of stature in forensic case work when compared to manubrium and mesosternum. Accuracy of stature estimation further increased with quadratic models derived for the mesosternum among males and combined length of sternum among males and females when compared to linear regression models. Future studies in different geographical locations and a larger sample size are proposed to confirm the study observations. Copyright © 2018 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

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

    Science.gov (United States)

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

    2012-02-01

    Systematic excavations at the site of the Sima de los Huesos (SH) in the Sierra de Atapuerca (Burgos, Spain) have allowed us to reconstruct 27 complete long bones of the human species Homo heidelbergensis. The SH sample is used here, together with a sample of 39 complete Homo neanderthalensis long bones and 17 complete early Homo sapiens (Skhul/Qafzeh) long bones, to compare the stature of these three different human species. Stature is estimated for each bone using race- and sex-independent regression formulae, yielding an average stature for each bone within each taxon. The mean length of each long bone from SH is significantly greater (p 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. Copyright © 2011 Elsevier Ltd. All rights reserved.

  2. Gambaran Status Gizi Anak Talasemia β Mayor di RSUP Dr. M. Djamil Padang

    Directory of Open Access Journals (Sweden)

    Dona Mirsa Putri

    2015-09-01

    Full Text Available Abstrak  Talasemia merupakan penyakit kronik yang membutuhkan transfusi setiap bulan, karena eritrosit lebih cepat lisis dibandingkan eritrosit normal. Komplikasi dan efek penyakit ini banyak, antara lain pertumbuhan, perkembangan, dan status gizinya. Penelitian ini bertujuan  mengetahui gambaran  status gizi anak talasemia β mayor Penelitian iniadalah penelitian deskriptif yang  dilakukan pada bulan Februari 2012 - Maret 2013 di RSUP Dr. M. Djamil Padang dengan sampel anak talasemia β mayor. Pemeriksaan yang dilakukan adalah mengukur tinggi badan, berat badan, dan lingkar lengan. Hasil pemeriksaan dimasukkan dalam tabel persentil NCHS dan penilaian status gizi berdasarkanDepartemen Kesehatan Repubik Indonesia.Hasil penelitian ini terdapat 15 anak talasemia β mayor, dengan rata-rata umur kelompok 5-10 tahun. Frekuensi terbanyak indeks tinggi badan per umur yaitu 70%-90% (60%.. Frekuensi terbanyak indeks berat badan per umur adalah 60%-80% (66.7%. Frekuensi terbanyak indeks lingkar lengang atas per umur adalah 70%-85% (80%. Simpulan dari hasil penelitian status gizi anak talasemia β mayor adalah gizi kurang.Kata kunci: Status gizi, talasemia β mayorAbstract Thalassemia is a chronic disease who needs blood tranfusion every month because the abnormal erythrocyte has short life time compared with the normal erythrocyte. There are so many complications and effects of this disease, such as growth and nutritional status. The aim of this research is to describe chlidren's nutritional status with thalassemia beta major. This research is a descriptive research. It has been done since February 2012 - March 2013 at RSUP Dr.  M. Djamil Padang. The sampling is children with thalassemia beta major. The examination are stature, weight, and upper arm circumference and the result is entered into NHCS percentil and assessment of Nutritional based on health department of Indonesia. From this research, there are 15 children who are suffering thalassemia

  3. Size Matters Stature Is Related to Diagnoses of Depression in Young Military Men

    OpenAIRE

    Valery Krupnik; Mariya V. Cherkasova

    2014-01-01

    Evolutionary theories suggest that depression has evolved as an adaptation to insurmountable adversity or defeat. One prediction stemming from these models is that individual attributes associated with defeat in a given social environment could be risk factors for depression. We hypothesized that in young military men, where physical prowess was important, short stature might constitute a risk of depression and that th...

  4. Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer.

    Science.gov (United States)

    Benito-Sanz, Sara; Royo, Jose Luis; Barroso, Eva; Paumard-Hernández, Beatriz; Barreda-Bonis, Ana C; Liu, Pengfei; Gracía, Ricardo; Lupski, James R; Campos-Barros, Ángel; Gómez-Skarmeta, José Luis; Heath, Karen Elise

    2012-07-01

    SHOX, located in the pseudoautosomal region 1 (PAR1) of the sexual chromosomes, encodes a transcription factor implicated in human growth. Defects in SHOX or its enhancers have been observed in ∼60% of Leri-Weill dyschondrosteosis (LWD) patients, a skeletal dysplasia characterised by short stature and/or the characteristic Madelung deformity, and in 2-5% of idiopathic short stature (ISS). To identify the molecular defect in the remaining genetically undiagnosed LWD and ISS patients, this study screened previously unanalysed PAR1 regions in 124 LWD and 576 ISS probands. PAR1 screening was undertaken by multiplex ligation dependent probe amplification (MLPA). Copy number alterations were subsequently confirmed and delimited by locus-specific custom-designed MLPA, array comparative genomic hybridisation (CGH) and breakpoint junction PCR/sequencing. A recurrent PAR1 deletion downstream of SHOX spanning 47543 bp with identical breakpoints was identified in 19 LWD (15.3%) and 11 ISS (1.9%) probands, from 30 unrelated families. Eight evolutionarily conserved regions (ECRs 1-8) identified within the deleted sequence were evaluated for SHOX regulatory activity by means of chromosome conformation capture (3C) in chicken embryo limbs and luciferase reporter assays in human U2OS osteosarcoma cells. The 3C assay indicated potential SHOX regulatory activity by ECR1, which was subsequently confirmed to act as a SHOX enhancer, operating in an orientation and position independent manner, in human U2OS cells. This study has identified the first recurrent PAR1 deletion in LWD and ISS, which results in the loss of a previously uncharacterised SHOX enhancer. The loss of this enhancer may decrease SHOX transcription, resulting in LWD or ISS due to SHOX haploinsufficiency.

  5. Marked increase of final height by long-term aromatase inhibition in a boy with idiopathic short stature.

    Science.gov (United States)

    Krebs, Andreas; Moske-Eick, Olaf; Doerfer, Jürgen; Roemer-Pergher, Cordula; van der Werf-Grohmann, Natascha; Schwab, Karl Otfried

    2012-01-01

    Growth hormone (GH) is the most frequently used treatment in children with idiopathic short stature (ISS). Aromatase inhibitor (AI) therapy is still in an experimental state, and both final height (FH) and long-term efficacy data in ISS have not been published. We present a 14.5-year-old boy with ISS and a height of 142.7 cm [standard deviation score (SDS) -2.79]. Based on the baseline bone age (BA) of 13.5-14 years, his predicted adult height (PAH) by Bayley/Pinneau was 154 cm (SDS -3.77)-158.2 (SDS -3.15). After a 5-year letrozole monotherapy, FH was 169 cm (SDS -1.57) showing a height difference between PAH and FH from 10.8 to 15 cm. No permanent side effects of the medication have been observed. Both a transient occurrence and a spontaneous recovery of decreased bone mineral apparent density were seen, verified by dual-energy X-ray absorptiometry. Spinal magnetic resonance imaging revealed no vertebral abnormalities. All therapy might be an effective and low-cost alternative to the use of GH. Further controlled trials should prove efficacy and safety of long-term AI therapy in boys with ISS.

  6. Comparaison du Srōš Drōn avec le Drōn Yašt

    OpenAIRE

    Redard, Céline

    2015-01-01

    This paper draws a parallel between two texts having the same textual base: The Srōš Drōn, derived from the Long Liturgy and the Drōn Yašt, belonging to the short liturgies. The goal is to establish the similarities and the discrepancies between these two texts. Peer reviewed

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

    Science.gov (United States)

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

    2014-01-01

    While childhood malnutrition is associated with increased morbidity and mortality, less well understood is how early childhood growth influences height and body composition later in life. We revisited 152 Peruvian children who participated in a birth cohort study between 1995 and 1998, and obtained anthropometric and bioimpedance measurements 11 to 14 years later. We used multivariable regression models to study the effects of childhood anthropometric indices on height and body composition in early adolescence. Each standard deviation decrease in length-for-age at birth was associated with a decrease in adolescent height-for-age of 0.7 SD in both boys and girls (all poverweight in early adolescence. Linear growth retardation in early childhood is a strong determinant of adolescent stature, indicating that, in developing countries, growth failure in height during early childhood persists through early adolescence. Interventions addressing linear growth retardation in childhood are likely to improve adolescent stature and related-health outcomes in adulthood. PMID:22552904

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

    Science.gov (United States)

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

    2012-03-01

    The examination of skeletal remains is a challenge to the medical examiner's/coroner's office and the forensic anthropologist conducting the investigation. One of the objectives of the medico-legal investigation is to estimate stature or height from various skeletal remains and body parts brought for examination. Various skeletal remains and body parts bear a positive and linear correlation with stature and have been successfully used for stature estimation. This concept is utilized in estimation of stature in forensic anthropology casework in mass disasters and other forensic examinations. Scientists have long been involved in standardizing the anthropological data with respect to various populations of the world. This review deals with some essential methodological issues that need to be addressed in research related to estimation of stature in forensic examinations. These issues have direct relevance in the identification of commingled or unknown remains and therefore it is essential that forensic nurses are familiar with the theories and techniques used in forensic anthropology. © 2012 International Association of Forensic Nurses.

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

    Science.gov (United States)

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

    2005-06-08

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

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

    Directory of Open Access Journals (Sweden)

    Huisman Jaap

    2005-06-01

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

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

    Science.gov (United States)

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

    2016-04-01

    An estimate of stature can be used by a forensic anthropologist with the preliminary identification of an unknown individual when human skeletal remains are recovered. Fordisc is a computer application that can be used to estimate stature; like many other methods it requires the user to assign an unknown individual to a specific group defined by sex, race/ancestry, and century of birth before an equation is applied. The assumption is that a group-specific equation controls for group differences and should provide the best results most often. In this paper we assess the utility and benefits of using group-specific equations to estimate stature using Fordisc. Using the maximum length of the humerus and the maximum length of the femur from individuals with documented stature, we address the question: Do sex-, race/ancestry- and century-specific stature equations provide the best results when estimating stature? The data for our sample of 19th Century White males (n=28) were entered into Fordisc and stature was estimated using 22 different equation options for a total of 616 trials: 19th and 20th Century Black males, 19th and 20th Century Black females, 19th and 20th Century White females, 19th and 20th Century White males, 19th and 20th Century any, and 20th Century Hispanic males. The equations were assessed for utility in any one case (how many times the estimated range bracketed the documented stature) and in aggregate using 1-way ANOVA and other approaches. This group-specific equation that should have provided the best results was outperformed by several other equations for both the femur and humerus. These results suggest that group-specific equations do not provide better results for estimating stature while at the same time are more difficult to apply because an unknown must be allocated to a given group before stature can be estimated. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  12. The Relationship between Stature and Insolation: Evidence from Soldiers and Prisoners

    OpenAIRE

    Scott A. Carson

    2009-01-01

    Nineteenth century white US statures varied with nutrition, disease exposure, and the physical environment. An additional explanation for stature growth is vitamin D production. Vitamin D is produced internally by the synthesis of cholesterol and sunlight in the epidermis. However, studies that link stature to insolation and vitamin D production rely on only one comprehensive data set. To test the relationship between insolation and stature further, this study broadens the sample to include b...

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

    Science.gov (United States)

    Ahemad, Nasir; Purkait, Ruma

    2011-05-01

    Stature is used for constructing a biological profile that assists with the identification of an individual. So far, little attention has been paid to the fact that stature can be estimated from hand impressions left at scene of crime. The present study based on practical observations adopted a new methodology of measuring hand length from the depressed area between hypothenar and thenar region on the proximal surface of the palm. Stature and bilateral hand impressions were obtained from 503 men of central India. Seventeen dimensions of hand were measured on the impression. Linear regression equations derived showed hand length followed by palm length are best estimates of stature. Testing the practical utility of the suggested method on latent prints of 137 subjects, a statistically insignificant result was obtained when known and estimated stature derived from latent prints was compared. The suggested approach points to a strong possibility of its usage in crime scene investigation, albeit the fact that validation studies in real-life scenarios are performed. © 2011 American Academy of Forensic Sciences.

  14. Children with severe Osteogenesis imperfecta and short stature present on average with normal IGF-I and IGFBP-3 levels.

    Science.gov (United States)

    Hoyer-Kuhn, Heike; Höbing, Laura; Cassens, Julia; Schoenau, Eckhard; Semler, Oliver

    2016-07-01

    Osteogenesis imperfecta (OI) is characterized by bone fragility and short stature. Data about IGF-I/IGFBP-3 levels are rare in OI. Therefore IGF-I/IGFBP-3 levels in children with different types of OI were investigated. IGF-I and IGFBP-3 levels of 60 children (male n=38) were assessed in a retrospective cross-sectional setting. Height/weight was significant different [height z-score type 3 versus type 4: p=0.0011 and weight (p≤0.0001)] between OI type 3 and 4. Mean IGF-I levels were in the lower normal range (mean±SD level 137.4±109.1 μg/L). Mean IGFBP-3 measurements were in the normal range (mean±SD 3.105±1.175 mg/L). No significant differences between OI type 3 and 4 children have been observed (IGF-I: p=0.0906; IGFBP-3: p=0.2042). Patients with different severities of OI have IGF-I and IGFBP-3 levels in the lower normal range. The type of OI does not significantly influence these growth factors.

  15. The glucagon test in the diagnosis of growth hormone deficiency in children with short stature younger than 6 years.

    Science.gov (United States)

    Secco, Andrea; di Iorgi, Natascia; Napoli, Flavia; Calandra, Erika; Ghezzi, Michele; Frassinetti, Costanza; Parodi, Stefano; Casini, Maria Rosaria; Lorini, Renata; Loche, Sandro; Maghnie, Mohamad

    2009-11-01

    Few studies have addressed the diagnostic role of the glucagon test in children with suspected GH deficiency (GHD). The objective of the study was to investigate the diagnostic value of the glucagon test as an alternative test to insulin tolerance test (ITT) and arginine in GHD children younger than 6 yr. This study was conducted in two pediatric endocrinology centers. Forty-eight children (median age 4.2 yr, median height -3.0 sd score) with GHD confirmed by a peak GH to ITT and arginine less than 10 microg/liter (median 4.7 and 3.4 microg/liter, respectively) underwent a glucagon stimulation test. Magnetic resonance imaging showed normal hypothalamic-pituitary anatomy in 24 children, isolated anterior pituitary hypoplasia in seven, and structural hypothalamic-pituitary abnormalities in 17. Median GH peak response to glucagon (13.5 microg/liter) was significantly higher than that observed after ITT and arginine (P short stature. Normative data for this test in young children need to be established before its use in clinical practice.

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

    Science.gov (United States)

    Krishan, Kewal; Kanchan, Tanuj; Sharma, Abhilasha

    2012-05-01

    Estimation of stature is an important parameter in identification of human remains in forensic examinations. The present study is aimed to compare the reliability and accuracy of stature estimation and to demonstrate the variability in estimated stature and actual stature using multiplication factor and regression analysis methods. The study is based on a sample of 246 subjects (123 males and 123 females) from North India aged between 17 and 20 years. Four anthropometric measurements; hand length, hand breadth, foot length and foot breadth taken on the left side in each subject were included in the study. Stature was measured using standard anthropometric techniques. Multiplication factors were calculated and linear regression models were derived for estimation of stature from hand and foot dimensions. Derived multiplication factors and regression formula were applied to the hand and foot measurements in the study sample. The estimated stature from the multiplication factors and regression analysis was compared with the actual stature to find the error in estimated stature. The results indicate that the range of error in estimation of stature from regression analysis method is less than that of multiplication factor method thus, confirming that the regression analysis method is better than multiplication factor analysis in stature estimation. Copyright © 2012 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

  17. Changes in intervertebral disk dimensions after a loading task and the relationship with stature change measurements.

    Science.gov (United States)

    Lewis, Sandra E; Fowler, Neil E

    2009-10-01

    Lewis SE, Fowler NE. Changes in intervertebral disk dimensions after a loading task and the relationship with stature change measurements. To test the hypothesis that there would be a linear relationship between overall stature change determined by stadiometry and markers of lumbar disk height loss determined from magnetic resonance imaging (MRI). The short-term loading response of the lumbar spine was evaluated with both stadiometry and MRI, using a within-subject repeated-measures design. Measures were obtained both before and after 15 minutes of walking wearing a weighted vest (20% of body mass). Stature loss measured on the stadiometer was compared with change in lumbar spine length assessed from the MRI images. A university laboratory. Participants (N=13; mean age +/- SD, 28.5+/-5.2y; mean height +/- SD, 1.76+/-0.10m; mean body mass +/- SD, 76.6+/-14.9kg) were invited to take part in the investigation. The group was mixed (9 men, 4 women) and comprised people with no history of low back pain. Not applicable. Lumbar spine length assessed via MRI and stature change measured via stadiometry. A significant height loss was observed over the complete lumbar spine (Pstature loss (r=.61). The results were supportive of the use of stadiometry as an indirect measure of changes in intervertebral disk height.

  18. Value of pituitary MRI in children with short stat

    OpenAIRE

    Huan ZHOU; Ya-ling NIE; Wei FAN; Cong-ying WANG; An-sheng LI; Hong WANG; Meng-meng WU

    2013-01-01

    Objective To explore the value of pituitary MRI in diagnosis of etiology and prognosis in children with short stature. Methods The MRI data of 130 children with short stature admitted from Jan. to Dec. 2012 were retrospectively analyzed. Of the 130 children, 79 were males and 51 were females, aged 3 to 18 years with mean of 9.8 years. Results Of the 130 children, 82 cases (63.1%) were shown to have normal pituitary morphology and signal manifestation, and in 48 cases (36.9%) pituitary morphol...

  19. Stature Estimation for Bosnian Male Population

    Directory of Open Access Journals (Sweden)

    Nermin Sarajlić

    2006-02-01

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

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

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    Insook Jeong

    2016-03-01

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

  1. Obstructive sleep apnea syndrome in a pubescent boy of short stature was improved with an orthodontic mandibular advancement oral appliance: a case report.

    Science.gov (United States)

    Ito, Shin; Otake, Hironao; Tsuiki, Satoru; Miyao, Etsuko; Noda, Akiko

    2015-01-15

    We report a 16-year-old pubescent pediatric patient with obstructive sleep apnea syndrome (OSAS) and short stature whose apnea hypopnea index (AHI) was significantly reduced following the use of an orthodontic oral appliance that advances the mandible ventrally. The mandible was advanced 64% of the maximal mandibular protrusive position with use of the appliance over a 3-year period. The patient's AHI without the appliance in place decreased from 101.6/h at baseline to 11/h after treatment. Moreover, the patient's height increased 14 cm during treatment, resulting in height close to the average height for his age. Cephalometric analysis revealed an improvement in his retrognathic mandible and proclination of the upper front teeth. In conclusion, an orthodontic mandibular advancement oral appliance played an important role not only in improving the patient's OSAS but also in normalizing his physical growth during puberty. © 2015 American Academy of Sleep Medicine.

  2. Quality of referral of short children to the paediatric endocrinologist and impact of a fax communication system.

    Science.gov (United States)

    Chiniara, Lyne; Perry, Rebecca J; Van Vliet, Guy; Huot, Céline; Deal, Cheri

    2013-12-01

    In 2001, a chart review of children referred to the authors' endocrine clinic because of short stature revealed that many were referred with insufficient baseline data, had normal height velocity and were within genetic target height. Therefore, a two-way fax communication system was implemented between referring physicians and the authors' service before the first visit. Aspects that were assessed included whether this system increased the information accompanying the patient at referral, resulted in children with nonpathological shortness not being seen in the clinic, and was used differently by paediatricians and general practitioners. Between January and December 2006, 138 referrals for short stature, diagnosed with familial short stature, constitutional delay or idiopathic short stature, were audited (69 with and 69 without previous fax communication). Data collected included source of referral, clinical information provided, available growth measurements, and results from laboratory and imaging studies. Fax communication resulted in growth curves being provided more often (95.6% of cases versus 40.5% of cases without fax communication [Pshort stature being given to 31 children based on the growth curve, laboratory and imaging results, without the children being seen in the endocrine clinic. Fax communication was also used more frequently by paediatricians (84%) than by general practitioners (15%). The fax communication system resulted in a more complete evaluation of referred patients by their physicians and reduced the number of unnecessary visits to the authors' specialty clinic while promoting medical education.

  3. Estimation of stature using lower limb measurements in Sudanese Arabs.

    Science.gov (United States)

    Ahmed, Altayeb Abdalla

    2013-07-01

    The estimation of stature from body parts is one of the most vital parts of personal identification in medico-legal autopsies, especially when mutilated and amputated limbs or body parts are found. The aim of this study was to assess the reliability and accuracy of using lower limb measurements for stature estimations. The stature, tibial length, bimalleolar breadth, foot length and foot breadth of 160 right-handed Sudanese Arab subjects, 80 men and 80 women (25-30 years old), were measured. The reliability of measurement acquisition was tested prior to the primary data collection. The data were analysed using basic univariate analysis and linear and multiple regression analyses. The results showed acceptable standards of measurement errors and reliability. Sex differences were significant for all of the measurements. There was a positive correlation coefficient between lower-limb dimensions and stature (P-value Arabs. Copyright © 2013 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

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

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

    1992-12-01

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

  5. Four siblings with distal renal tubular acidosis and nephrocalcinosis, neurobehavioral impairment, short stature, and distinctive facial appearance: a possible new autosomal recessive syndrome.

    Science.gov (United States)

    Faqeih, Eissa; Al-Akash, Samhar I; Sakati, Nadia; Teebi, Prof Ahmad S

    2007-09-01

    We report on four siblings (three males, one female) born to first cousin Arab parents with the constellation of distal renal tubular acidosis (RTA), small kidneys, nephrocalcinosis, neurobehavioral impairment, short stature, and distinctive facial features. They presented with early developmental delay with subsequent severe mental, behavioral and social impairment and autistic-like features. Their facial features are unique with prominent cheeks, well-defined philtrum, large bulbous nose, V-shaped upper lip border, full lower lip, open mouth with protruded tongue, and pits on the ear lobule. All had proteinuria, hypercalciuria, hypercalcemia, and normal anion-gap metabolic acidosis. Renal ultrasound examinations revealed small kidneys, with varying degrees of hyperechogenicity and nephrocalcinosis. Additional findings included dilated ventricles and cerebral demyelination on brain imaging studies. Other than distal RTA, common causes of nephrocalcinosis were excluded. The constellation of features in this family currently likely represents a possibly new autosomal recessive syndrome providing further evidence of heterogeneity of nephrocalcinosis syndromes. Copyright 2007 Wiley-Liss, Inc.

  6. Nineteenth century US African-American and white female statures: Insight from US prison records

    OpenAIRE

    Carson, Scott A.

    2010-01-01

    Using a new source of 19th century state prison records, this study contrasts the biological living conditions of comparable US African-American and white female statures during economic development. Black and white female statures varied regionally, and white Southeastern and black Southwestern females reached the tallest statures. White females were consistently taller than black females. Black and white female statures also varied over time with emancipation and were similar to black male ...

  7. Prevalence and etiological profile of short stature among school children in a South Indian population

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    Kumaravel Velayutham

    2017-01-01

    Full Text Available Background and Objectives: Short stature (SS is a common pediatric problem and it might be the first sign of underlying illness. Studies documenting the burden and etiological profile of SS are scarce from India and are mostly limited to data obtained from referral centers. Due to the lack of large-scale, community-based studies utilizing a standard protocol, the present study aimed to assess the prevalence and etiological profile of SS in school children of a South Indian district. Materials and Methods: In this cross-sectional study, children aged 4–16 years from 23 schools in Madurai district, Tamil Nadu, underwent anthropometric measurements and height was plotted in Khadilkar et al. growth chart. The cause of SS was assessed using clinical and laboratory evaluations in assigned children with a height less than third centile. Results: A total of 15644 children belonging to 23 schools were evaluated, and 448 (2.86% children had SS. Etiological evaluation was further performed in 87 randomly assigned children, and it is identified that familial SS or constitutional delay in growth was the most common cause of SS in the study population (66.67%. Hypothyroidism and growth hormone deficiency were the two most common pathological causes of SS seen in 12 (13.79% and 8 (9.20% children, respectively. Malnutrition was the cause of SS in 6 (6.9% children and cardiac disorders, psychogenic SS, and skeletal dysplasia were other identified causes of SS in the study. Interpretation and Conclusions: The overall prevalence of SS in school children was 2.86% and familial SS or constitutional delay in growth was the most common cause of SS. As a significant percentage of children with SS had correctable causes, monitoring growth with a standard growth chart should be mandatory in all schools.

  8. Combined genome scans for body stature in 6,602 European twins

    DEFF Research Database (Denmark)

    Perola, Markus; Sammalisto, Sampo; Hiekkalinna, Tero

    2007-01-01

    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....... 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...

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

    Science.gov (United States)

    Schiedel, Frank; Rödl, Robert

    2012-01-01

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

  10. Stature in archeological samples from central Italy: methodological issues and diachronic changes.

    Science.gov (United States)

    Giannecchini, Monica; Moggi-Cecchi, Jacopo

    2008-03-01

    Stature reconstructions from skeletal remains are usually obtained through regression equations based on the relationship between height and limb bone length. Different equations have been employed to reconstruct stature in skeletal samples, but this is the first study to provide a systematic analysis of the reliability of the different methods for Italian historical samples. Aims of this article are: 1) to analyze the reliability of different regression methods to estimate stature for populations living in Central Italy from the Iron Age to Medieval times; 2) to search for trends in stature over this time period by applying the most reliable regression method. Long bone measurements were collected from 1,021 individuals (560 males, 461 females), from 66 archeological sites for males and 54 for females. Three time periods were identified: Iron Age, Roman period, and Medieval period. To determine the most appropriate equation to reconstruct stature the Delta parameter of Gini (Memorie di metodologia statistica. Milano: Giuffre A. 1939), in which stature estimates derived from different limb bones are compared, was employed. The equations proposed by Pearson (Philos Trans R Soc London 192 (1899) 169-244) and Trotter and Gleser for Afro-Americans (Am J Phys Anthropol 10 (1952) 463-514; Am J Phys Anthropol 47 (1977) 355-356) provided the most consistent estimates when applied to our sample. We then used the equation by Pearson for further analyses. Results indicate a reduction in stature in the transition from the Iron Age to the Roman period, and a subsequent increase in the transition from the Roman period to the Medieval period. Changes of limb lengths over time were more pronounced in the distal than in the proximal elements in both limbs. 2007 Wiley-Liss, Inc.

  11. Short stature

    Science.gov (United States)

    ... as tall as her parents. Providers call this "constitutional growth delay." If one or both parents are ... about A.D.A.M.'s editorial policy , editorial process and privacy policy . A.D.A.M. is ...

  12. A short life history of Prof. Dr. F.P. Jonker

    NARCIS (Netherlands)

    Janssen, C.R.

    1978-01-01

    This year Prof. Dr. F.P. Jonker, Frits as he is known among his friends, will retire from the formal academic life at the State University of Utrecht: a long and busy life of 49 years, devoted to teaching, administration, and scientific research. Looking back on all these years, one realises the

  13. Loci associated with adult stature also affect calf birth survival in cattle

    DEFF Research Database (Denmark)

    Sahana, Goutam; Höglund, Johanna; Guldbrandtsen, Bernt

    2015-01-01

    growth and adult stature in several species. The QTL exhibited large effects on calf size and stature in Nordic Red cattle. Two deviant haplotypes (HAP1 and HAP2) were resolved which increased calf size at birth, and affected adult body conformation. However, the haplotypes also resulted in increased...

  14. Indivíduo do sexo masculino XYY com retorno venoso pulmonar anômalo total e baixa estatura XYY male with total anomalous pulmonary venous return and short stature

    Directory of Open Access Journals (Sweden)

    Hiroyuki Nagasawa

    2003-02-01

    Full Text Available Objetivo: relatar o caso de um neonato masculino 47 XYY com doença cardíaca congênita e baixa estatura. Resultados: este é o primeiro relato de caso de um neonato masculino 47 XYY, pequeno para a idade, com doença cardíaca congênita (retorno venoso pulmonar anômalo total. O neonato nasceu com 32 semanas de gestação e peso de 1.134 g. Uma hemorragia intracraniana e um alto fluxo pulmonar foram descobertos no período neonatal inicial. Havia grande retardo de desenvolvimento neuromotor. A criança recebeu uma ligadura paliativa do ductus arteriosus e a colocação de um shunt ventriculoperitoneal, mas morreu com 19 meses de vida de insuficiência cardíaca. Comentários: esta combinação de menino XYY e doença cardíaca congênita pode ser fortuita. Entretanto, pensamos que é importante relatar que houve este caso de prognóstico pobre de um indivíduo XYY do sexo masculino com doença cardíaca congênita e baixa estatura.Objective: to report a case of a 47 XYY male neonate with congenital heart disease and short stature. Description: this is the first case report of a 47 XYY male neonate associated with congenital heart disease (total anomalous pulmonary venous return and small for gestational age. The infant was born at around 32 weeks of gestation with 1,134g. Intracranial hemorrhage and pulmonary high flow were discovered in the early neonatal period. Retarded physical and mental development was observed. The infant underwent a palliative ligation of the ductus arteriosus and a ventriculoperitoneal shunt operation, but died due to consequent heart failure at 19 months of age. Comments: this combination of XYY male and congenital heart disease may be fortuitous. However, we think it is important to report that there was a poor prognosis case of XYY male with congenital heart disease and short stature.

  15. Metacarpal index in Marfan's syndrome and in constitutional tall stature.

    OpenAIRE

    Nelle, M; Tröger, J; Rupprath, G; Bettendorf, M

    1994-01-01

    The metacarpal index (MCI) in 54 children with constitutional tall stature was mean (SD) 8.65 (0.8) and in 55 with Marfan's syndrome 9.15 (0.9). Indices in both groups showed arachnodactyly and differed from those found in normal individuals (< 7.9). Because the MCI is a poor discriminator patients with tall stature or clinical signs of arachnodactyly should be examined for additional signs of Marfan's syndrome or other hereditary disorders of connective tissue.

  16. Stature estimation using the knee height measurement amongst Brazilian elderly

    OpenAIRE

    Siqueira Fogal, Aline; Franceschini, Sylvia do Carmo Castro; Eloiza Priore, Silvia; Cotta, Rosângela Minardi M.; Queiroz Ribeiro, Andreia

    2015-01-01

    Introduction: Stature is an important variable in several indices of nutritional status that are applicable to elderly persons. However, stature is difficult or impossible to measure in elderly because they are often unable to maintain the standing position. A alternative is the use of estimated height from measurements of knee height measure. Aims: This study aimed to evaluate the accuracy of the formula proposed by Chumlea et al. (1985) based on the knee of a Caucasian population to estimat...

  17. Temporary and lasting effects of childhood deprivation on male stature. Late adolescent stature and catch-up growth in Woerden (The Netherlands) in the first half of the nineteenth century

    NARCIS (Netherlands)

    Beekink, E.; Kok, J.

    2017-01-01

    This paper compares the statures of men during late adolescence, measured at age 19, with the stature in adulthood, measured at age 25, specially focusing on the influences of household situation and family stress. On average, the men studied became five centimeters taller in the interval, but there

  18. Orphan disease: Cherubism, optic atrophy, and short stature

    OpenAIRE

    Balaji Jeevanandham; Rajoo Ramachandran; Vignesh Dhanapal; Ilanchezhian Subramanian; Venkata Sai

    2018-01-01

    A 12-year-old female presented with complaints of progressive visual impairment in both her eyes. On clinical examination, she was short for her age and her ophthalmoscopic examination revealed bilateral optic atrophy. Computed tomography of the patient revealed multiple expansile lytic lesions of mandible suggesting cherubism. The optic atrophy was confirmed on magnetic resonance imaging, which additionally revealed bilateral retrocerebellar arachnoid cysts. This association of cherubism wit...

  19. Value of pituitary MRI in children with short stat

    Directory of Open Access Journals (Sweden)

    Huan ZHOU

    2013-11-01

    Full Text Available Objective To explore the value of pituitary MRI in diagnosis of etiology and prognosis in children with short stature. Methods The MRI data of 130 children with short stature admitted from Jan. to Dec. 2012 were retrospectively analyzed. Of the 130 children, 79 were males and 51 were females, aged 3 to 18 years with mean of 9.8 years. Results Of the 130 children, 82 cases (63.1% were shown to have normal pituitary morphology and signal manifestation, and in 48 cases (36.9% pituitary morphology and signal manifestation were abnormal, and among them pituitary dysplasia was found in 30 cases, deficiency of bright signals in posterior pituitary lobe was found in 4 cases, in whom pituitary stalk deficiency was found in 2 cases. Pituitary microadenoma was found in 3 cases, and pituitary cystic lesions were found in 6 cases. Suprasellar cistern hernia was found in 4 cases, and empty sella was found in one case. The height of pituitary glands was 3.00-7.00mm in children with normal pituitary morphology and signal manifestation. Conclusion MRI pituitary examination can clearly display the anatomy and the signal of the pituitary gland, therefore MR imaging is of important value in the diagnosis of the etiology diagnosis, treatment, and prognosis of children with short stature. It should be the preferred examination. DOI: 10.11855/j.issn.0577-7402.2013.11.008

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

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    McPhee Ian

    2007-02-01

    Full Text Available Abstract 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.

  1. Estimation of stature from different anthropometric measurements in Kori population of North India

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    Renu Kamal

    2016-12-01

    Full Text Available In medico-legal cases, most often the personal identity of the deceased is a mystery. The stature, sex and other parameters in such scenarios are ascertained using the physical evidence present at the crime scene. One of the key methods of ascertaining the sex and stature is by using the human bones. The method of achieving accuracy in estimation of stature from bones has been well established in past. There are several regression formulae for conducting such estimation. However, it must be kept in mind that these regression equations can vary depending upon the population and region. Thus, it is very necessary to study a particular population thoroughly before formulating regression equations for that specific population patch. In this paper, we have penned down the study of KORI POPULATION, who are native to Kanpur region of Uttar Pradesh state, in India. In this study, we have observed the statistics of 202 individuals (106 females and 96 males. In totality, eight bone dimensions including stature, total arm length, length of the middle finger, knee length, foot length, foot breadth, maximum head length and maximum head breadth have been recorded in this research paper. The regression formulae for females and males have been derived separately. Further, there are various parameters that have been compared to find which parameter provides the best results in terms of accuracy in stature estimation.

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

    DEFF Research Database (Denmark)

    Jørkov, Marie Louise S

    2015-01-01

    Individual stature depends on multifactorial causes and is often used as a proxy for investigating the biological standard of living. While the majority of European studies on 19th and 20th century populations are based on conscript heights, stature derived from skeletal remains are scarce. For t....... Female stature had no significant wealth gradient (p=0.516). This study provides new evidence of stature among males and females during the 19th century and suggests that males may have been more sensitive to changes in environmental living and nutrition than females....

  3. Do IGF-I concentrations better reflect growth hormone (GH action in children with short stature than the results of GH stimulating tests? Evidence from the simultaneous assessment of thyroid function

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    Smyczyńska Joanna

    2011-01-01

    Full Text Available Abstract Background The diagnosis of growth hormone (GH deficiency (GHD in short children seems unquestionable when both GH peak in stimulating tests (GHST and IGF-I concentration are decreased. However, the discrepancies between the results of GHST and IGF-I secretion are observed. It seems purposeful to determine the significance of GHST and IGF-I assessment in diagnosing GHD. The relationship between GH secretion and thyroid function, as well as GH influence on the peripheral thyroxine (T4 to triiodothyronine (T3 deiodination, mediated by IGF-I, were identified. Thus, clear differences in thyroid function between GH-deficient and non-GH-deficient subjects should exist. Methods Analysis comprised 800 children (541 boys, age 11.6 ± 3.1 years (mean ± SD, with short stature, in whom two (2 standard GHST (with clonidine and with glucagon were performed and IGF-I, free T4 (FT4, free T3 (FT3 and TSH serum concentrations were assessed. The patients were qualified to the following groups: GHD - decreased GH peak in GHST and IGF-I SDS (n = 81, ISS - normal GH peak and IGF-I SDS (n = 347, low GH - normal IGF-I SDS, and decreased GH peak (n = 212, low IGF - decreased IGF-I SDS, and normal GH peak (n = 160. The relationships among the results of particular tests were evaluated. Results In the groups with decreased IGF-I concentrations (GHD Group and low IGF Group, the more severe deficit of height was observed, together with higher TSH and FT4 but lower FT3 levels than in groups with normal IGF-I concentrations (ISS Group and low GH Group, independently of the results of GHST. TSH, FT4 and FT3 concentrations were - respectively - similar in two groups with decreased IGF-I secretion, as well as in two groups with normal IGF-I levels. Significant correlations were found between patients' height SDS and IGF-I SDS, between FT3 and IGF-I SDS (positive, and between FT4 and IGF-I SDS (negative, with no correlation between GH peak and any of the parameters

  4. Stature estimation based on vertebral morphometry by dual energy X-rays absorptiometry imaging in Italian females

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    Chantal Milani

    2017-02-01

    Full Text Available Anthropological profile in forensic context includes the assessment of parameters as ancestry, sex, age and stature of an individual by the analysis of skeletal remains. Stature can be estimated from decomposed and fully or partially skeletonized remains by means of anatomical or mathematical methods applied on the whole skeleton or single bones. Many authors calculated regression formulae for the living stature estimation by these methods, in particular based on a population similar to the remains recovered. Long bones are commonly used for stature estimation, but, when they are missing, methods involving different parts of the skeleton are needed. In this preliminary study we measured heights of the vertebral bodies in a female Caucasian Italian population, evaluated by images of morphometric X-ray absorptiometry based on dual-energy X-ray absorptiometry in living subjects investigated for routine diagnostic purposes. Thoracic and lumbar segments of the spine were measured and statistical analysis was performed, thus obtaining regression formulae for estimated living stature from thoraco-lumbar spine segments (T6-T12, L1-L4 and T6-L4. We propose this method for stature evaluation in physical or forensic anthropology when the spine is available and long bones are missing.

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

    Science.gov (United States)

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

    2016-01-01

    The use of cadaver length and forensic stature as a proxy for living standing height has not been scrutinized in detail. In this paper we present a brief review of the current knowledge on the relationship between cadaver, living and forensic stature; assess the magnitude and nature of the differences between these three measures of stature; and investigate the potential impact of these differences in forensic contexts. The study uses a sample of 84 males who were autopsied in 2008 at the National Institute of Legal Medicine and Forensic Sciences (Porto, Portugal), where stature data were collected from three different sources: cadaver stature was obtained from the corpse prior to autopsy, living stature was obtained from military conscription records and forensic stature was obtained from national citizenship identification card records. Descriptive statistics, ANOVA and linear regression are used to analyze the data. The results show that cadaver stature is the highest measure, followed by forensic and by living stature, and the difference between cadaver and living stature is greater than expected (4.3cm). Results also show considerable individual variation in the differences between the three measures of stature and that differences decrease with stature, although only slightly. This study has shown that the difference between cadaver and living stature is greater than previously thought and suggests that previously reported correction factors are a minimum rather than a mean correction. Forensic stature is likely to be incorrectly estimated and can jeopardize identification if methods estimate living rather than forensic stature. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  6. Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature.

    Science.gov (United States)

    Ostergaard, Elsebet; Weraarpachai, Woranontee; Ravn, Kirstine; Born, Alfred Peter; Jønson, Lars; Duno, Morten; Wibrand, Flemming; Shoubridge, Eric A; Vissing, John

    2015-03-01

    We investigated a subject with an isolated cytochrome c oxidase (COX) deficiency presenting with an unusual phenotype characterised by neuropathy, exercise intolerance, obesity, and short stature. Blue-native polyacrylamide gel electrophoresis (BN-PAGE) analysis showed an almost complete lack of COX assembly in subject fibroblasts, consistent with the very low enzymatic activity, and pulse-labelling mitochondrial translation experiments showed a specific decrease in synthesis of the COX1 subunit, the core catalytic subunit that nucleates assembly of the holoenzyme. Whole exome sequencing identified compound heterozygous mutations (c.199dupC, c.215A>G) in COA3, a small inner membrane COX assembly factor, resulting in a pronounced decrease in the steady-state levels of COA3 protein. Retroviral expression of a wild-type COA3 cDNA completely rescued the COX assembly and mitochondrial translation defects, confirming the pathogenicity of the mutations, and resulted in increased steady-state levels of COX1 in control cells, demonstrating a role for COA3 in the stabilisation of this subunit. COA3 exists in an early COX assembly complex that contains COX1 and other COX assembly factors including COX14 (C12orf62), another single pass transmembrane protein that also plays a role in coupling COX1 synthesis with holoenzyme assembly. Immunoblot analysis showed that COX14 was undetectable in COA3 subject fibroblasts, and that COA3 was undetectable in fibroblasts from a COX14 subject, demonstrating the interdependence of these two COX assembly factors. The mild clinical course in this patient contrasts with nearly all other cases of severe COX assembly defects that are usually fatal early in life, and underscores the marked tissue-specific involvement in mitochondrial diseases. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  7. Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.

    Science.gov (United States)

    Linglart, A; Cabrol, S; Berlier, P; Stuckens, C; Wagner, K; de Kerdanet, M; Limoni, C; Carel, J-C; Chaussain, J-L

    2011-06-01

    Adult height deficit seen in Turner syndrome (TS) originates, in part, from growth retardation in utero and throughout the first 3 years of life. Earlier diagnosis enables earlier therapeutic intervention, such as with recombinant human GH (r-hGH), which may help to prevent growth retardation. In this open-label, multicentre phase III study, we investigated efficacy and safety in r-hGH treatment in young girls with TS. Girls (n=61) aged <4 years with TS receiving 0.035-0.05 mg/kg per day r-hGH for 4 years were compared with an historical control group (n=51) comprising untreated, age- and height-matched girls with TS. The main outcome measure was change in height SDS (H-SDS). Other measures included changes in height velocity SDS, IGF1 levels and glucose metabolism. After 4 years, a gain in mean H-SDS of 1.0 SDS (from -2.33±0.73 to -1.35±0.86 SDS) was observed with r-hGH treatment, in contrast to the decrease in mean H-SDS of 0.3 SDS in the control group (from -2.09±0.81 to -2.44±0.73 SDS; P<0.0001). r-hGH treatment was the main predictor of H-SDS gain and accounted for 52% of variability (multivariate analysis). r-hGH was well tolerated. As expected, IGF1 levels rose with treatment. A case of transient glucose intolerance resolved after dietary adaptation. Early treatment with r-hGH helps to prevent natural evolution towards short stature in most girls with TS. IGF1 levels and glucose metabolism should be monitored routinely during r-hGH therapy.

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

    Science.gov (United States)

    Canda, Alicia

    2009-03-01

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

  9. Efficacy and safety of two doses of Norditropin® (somatropin) in short stature due to Noonan syndrome: a 2-year randomized, double-blind, multicenter trial in Japanese patients.

    Science.gov (United States)

    Ozono, Keiichi; Ogata, Tsutomu; Horikawa, Reiko; Matsubara, Yoichi; Ogawa, Yoshihisa; Nishijima, Keiji; Yokoya, Susumu

    2018-02-26

    This randomized double-blind multicenter trial (NCT01927861) evaluated the growth-promoting effect and safety of Norditropin ® (NN220; somatropin) in Japanese children with short stature due to Noonan syndrome. Prepubertal children aged 3-Noonan syndrome were randomized to receive GH 0.033 mg/kg/day (n = 25, mean age 6.57 years, 11 females) or 0.066 mg/kg/day (n = 26, mean age 6.06 years, eight females) for 104 weeks. Change in height standard deviation score (HSDS) from baseline was analyzed based on an ANCOVA model. Baseline HSDS was -3.24. Estimated change in HSDS [95% CI] after 104 weeks' treatment was 0.84 [0.66, 1.02] and 1.47 [1.29, 1.64] for the lower and higher doses, respectively; estimated mean difference 0.63 [0.38, 0.88], p Noonan syndrome, with a favorable safety profile. The effect was greater with 0.066 mg/kg/day compared with 0.033 mg/kg/day.

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

    Science.gov (United States)

    Li, Xihai; Liang, Wenna; Ye, Hongzhi; Weng, Xiaping; Liu, Fayuan; Lin, Pingdong; Liu, Xianxiang

    2015-09-01

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

  11. Comparison of SHOX and associated elements duplications distribution between patients (Lėri-Weill dyschondrosteosis/idiopathic short stature) and population sample.

    Science.gov (United States)

    Hirschfeldova, Katerina; Solc, Roman

    2017-09-05

    The effect of heterozygous duplications of SHOX and associated elements on Lėri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS) development is less distinct when compared to reciprocal deletions. The aim of our study was to compare frequency and distribution of duplications within SHOX and associated elements between population sample and LWD (ISS) patients. A preliminary analysis conducted on Czech population sample of 250 individuals compared to our previously reported sample of 352 ISS/LWD Czech patients indicated that rather than the difference in frequency of duplications it is the difference in their distribution. Particularly, there was an increased frequency of duplications residing to the CNE-9 enhancer in our LWD/ISS sample. To see whether the obtained data are consistent across published studies we made a literature survey to get published cases with SHOX or associated elements duplication and formed the merged LWD, the merged ISS, and the merged population samples. Relative frequency of particular region duplication in each of those merged samples were calculated. There was a significant difference in the relative frequency of CNE-9 enhancer duplications (11 vs. 3) and complete SHOX (exon1-6b) duplications (4 vs. 24) (p-value 0.0139 and p-value 0.000014, respectively) between the merged LWD sample and the merged population sample. We thus propose that partial SHOX duplications and small duplications encompassing CNE-9 enhancer could be highly penetrant alleles associated with ISS and LWD development. Copyright © 2017 Elsevier B.V. All rights reserved.

  12. Psychological and emotional development, intellectual capabilities, and body image in short normal children.

    Science.gov (United States)

    Molinari, E; Sartori, A; Ceccarelli, A; Marchi, S

    2002-04-01

    It is well established that children with short stature frequently have problems in cognitive development, personality, self-esteem and social relations. This is partly due to the fact that many parents view them as more vulnerable than other children of normal stature and do not allow them to face the normal experiences that correspond to their actual age. The aim of the present study was to assess, through the administration of appropriate psychological tools, a series of psychological and cognitive characteristics [i.e. anxiety, depression, good adjustment, social functioning, feeling of guilt, interpersonal relationship, intelligence quotient (IQ)], as well as variables linked to development of body image, in a group of children suffering from normal growth variants [familial short stature (FSS), no. 10, 4 males/6 females; with constitutional growth delay (CGD), no. 4,4 males; height standard deviation score (HSDS) ranging between -2.4 and -1.9] and in a control group children of normal stature (HSDS between -0.1 and +0.1). Children with short stature significantly differed from normal statured controls as far as Colored Progressive Matrices (CPMs, centiles), IQ (IQ, obtained using the Goodenough test), "Good Adjustment" (Draw-a-Person index, DAP), "Feelings of Guilt" (DAP index), "Height" (as emerges from drawings of the body) are concerned. Significant relationships were found between the height of the subjects (in centiles) and cognitive skills, measured both using CPMs (r=0.408; p=0.017) and Draw-a-Man (DAM) (r=0.359; p=0.037) and between height and feelings of guilt (r=0.325; p=0.027), measured using DAP. CPM scores correlated positively with the "Good Adjustment" index of DAP (r=0.354; p=0.05) and negatively with Children's Depression Inventory (CDI) (r=-0.609; p=0.01), "School Anxiety" index (r=-0.427; p=0.05) and "Total Anxiety" index (r=-0.436; p=0.05) of the Anxiety Scale Questionnaire for the Age of Development, and with 2 indices of DAP, namely

  13. Estimation of stature from hand and foot dimensions in a Korean population.

    Science.gov (United States)

    Kim, Wonjoon; Kim, Yong Min; Yun, Myung Hwan

    2018-04-01

    The estimation of stature using foot and hand dimensions is essential in the process of personal identification. The shapes of feet and hands vary depending on races and gender, and it is of great importance to design an adequate equation in consideration of variances to estimate stature. This study is based on a total of 5,195 South Korean males and females, aged from 20 to 59 years. Body dimensions of stature, hand length, hand breadth, foot length, and foot breadth were measured according to standard anthropometric procedures. The independent t-test was performed in order to verify significant gender-induced differences and the results showed that there was significant difference between males and females for all the foot-hand dimensions (pfoot length showed highest correlation, whereas the hand breadth showed least correlation. The stepwise regression analysis was conducted, and the results showed that males had the highest prediction accuracy in the regression equation consisting of foot length and hand length (R 2 =0.532), whereas females had the highest accuracy in the regression model consisting of foot length and hand breadth (R 2 =0.437) The findings of this study indicated that hand and foot dimensions can be used to predict the stature of South Korean in the forensic science field. Copyright © 2018 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

  14. Size Matters Stature Is Related to Diagnoses of Depression in Young Military Men

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    Valery Krupnik

    2014-07-01

    Full Text Available Evolutionary theories suggest that depression has evolved as an adaptation to insurmountable adversity or defeat. One prediction stemming from these models is that individual attributes associated with defeat in a given social environment could be risk factors for depression. We hypothesized that in young military men, where physical prowess was important, short stature might constitute a risk of depression and that this risk would be specific to depression and not to other prevalent mental disorders such as anxiety. A preliminary analysis of the diagnostic profile of a sample of male military personnel treated for mental health indicates that men both shorter and taller than average by 1 standard deviation may be predisposed to higher rates of depressive but not anxiety disorders. Practical and theoretical implications of our findings are discussed.

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

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    Krishan Kewal

    2011-11-01

    Full Text Available Abstract 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 p-value 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.

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

    Science.gov (United States)

    Mather, George

    2010-01-01

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

  17. Shared Genetic Architecture in the Relationship between Adult Stature and Subclinical Coronary Artery Atherosclerosis

    Science.gov (United States)

    Cassidy-Bushrow, Andrea E.; Bielak, Lawrence F.; Sheedy, Patrick F.; Turner, Stephen T.; Chu, Julia S.; Peyser, Patricia A.

    2011-01-01

    Background Short stature is associated with increased risk of coronary heart disease (CHD); although the mechanisms for this relationship are unknown, shared genetic factors have been proposed. Subclinical atherosclerosis, measured by coronary artery calcification (CAC), is associated with CHD events and represents part of the biological continuum to overt CHD. Many molecular mechanisms of CAC development are shared with bone growth. Thus, we examined whether there was evidence of shared genes (pleiotropy) between adult stature and CAC. Methods 877 asymptomatic white adults (46% men) from 625 families in a community-based sample had computed tomography measures of CAC. Pleiotropy between height and CAC was determined using maximum-likelihood estimation implemented in SOLAR. Results Adult height was significantly and inversely associated with CAC score (P=0.01). After adjusting for age, sex, and CHD risk factors, the estimated genetic correlation between height and CAC score was -0.37 and was significantly different than 0 (P=0.001) and -1 (P<0.001). The environmental correlation between height and CAC score was 0.60 and was significantly different than 0 (P=0.024). Conclusions Further studies of shared genetic factors between height and CAC may provide important insight into the complex genetic architecture of CHD, in part through increased understanding of the molecular pathways underlying the process of both normal growth and disease development. Bivariate genetic linkage analysis may provide a powerful mechanism for identifying specific genomic regions associated with both height and CAC. PMID:21937044

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

    Science.gov (United States)

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

    2015-01-01

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

  19. A combined morphometric analysis of foot form and its association with sex, stature, and body mass.

    Science.gov (United States)

    Domjanic, Jacqueline; Seidler, Horst; Mitteroecker, Philipp

    2015-08-01

    Morphometric analysis of footprints is a classic means for orthopedic diagnosis. In forensics and physical anthropology, it is commonly used for the estimation of stature and body mass. We studied individual variation and sexual dimorphism of foot dimensions and footprint shape by a combination of classic foot measurements and geometric morphometric methods. Left and right feet of 134 healthy adult males and females were scanned twice with a 3D optical laser scanner, and stature as well as body mass were recorded. Foot length and width were measured on the 3D scans. The 2D footprints were extracted as the plantar-most 2 mm of the 3D scans and measured with 85 landmarks and semilandmarks. Both foot size and footprint shape are sexually dimorphic and relate to stature and body mass. While dimorphism in foot length largely results from dimorphism in stature, dimorphism in footprint shape partly owes to the dimorphism in BMI. Stature could be estimated well based on foot length (R(2)  = 0.76), whereas body mass was more closely related to foot width (R(2)  = 0.62). Sex could be estimated correctly for 95% of the individuals based on a combination of foot width and length. Geometric morphometrics proved to be an effective tool for the detailed analysis of footprint shape. However, for the estimation of stature, body mass, and sex, shape variables did not considerably improve estimates based on foot length and width. © 2015 Wiley Periodicals, Inc.

  20. Stature estimation equations for South Asian skeletons based on DXA scans of contemporary adults.

    Science.gov (United States)

    Pomeroy, Emma; Mushrif-Tripathy, Veena; Wells, Jonathan C K; Kulkarni, Bharati; Kinra, Sanjay; Stock, Jay T

    2018-05-03

    Stature estimation from the skeleton is a classic anthropological problem, and recent years have seen the proliferation of population-specific regression equations. Many rely on the anatomical reconstruction of stature from archaeological skeletons to derive regression equations based on long bone lengths, but this requires a collection with very good preservation. In some regions, for example, South Asia, typical environmental conditions preclude the sufficient preservation of skeletal remains. Large-scale epidemiological studies that include medical imaging of the skeleton by techniques such as dual-energy X-ray absorptiometry (DXA) offer new potential datasets for developing such equations. We derived estimation equations based on known height and bone lengths measured from DXA scans from the Andhra Pradesh Children and Parents Study (Hyderabad, India). Given debates on the most appropriate regression model to use, multiple methods were compared, and the performance of the equations was tested on a published skeletal dataset of individuals with known stature. The equations have standard errors of estimates and prediction errors similar to those derived using anatomical reconstruction or from cadaveric datasets. As measured by the number of significant differences between true and estimated stature, and the prediction errors, the new equations perform as well as, and generally better than, published equations commonly used on South Asian skeletons or based on Indian cadaveric datasets. This study demonstrates the utility of DXA scans as a data source for developing stature estimation equations and offer a new set of equations for use with South Asian datasets. © 2018 Wiley Periodicals, Inc.

  1. Osteogenesis imperfecta: Level of independence and of social, recreational and sports participation among adolescents and youth.

    Science.gov (United States)

    Rodríguez Celin, Mercedes; Fano, Virginia

    2016-06-01

    Osteogenesis imperfecta is a group of hereditary connective tissue disorders that cause bone fragility, with a wide clinical variability resulting in varying degrees of motor disability. To describe the level of independence and of social, recreational and sports participation among adolescents with osteogenesis imperfecta. Descriptive, analytical and crosssectional study conducted in patients with osteogenesis imperfecta older than 15 years old attending the Skeletal Dysplasia Office of Hospital "Prof. Dr. Juan P. Garrahan" (May 2013 through December 2014). Self-administered survey. Short stature was an outcome measure that indicated severity. There were 18 patients; age: 19.17 (±3.4 sDE); 83% had moderate-severe forms of OI; median height: -7.9 sDE; 50% used a wheelchair. Average education years: 12.2; 56% participated in sporting activities; and 78% were involved in recreational and social activities. A high level of independence was observed. We found a correlation between short stature and use of wheelchair (r: -0.77) and between short stature and participation in sporting activities (r: 0.66). No correlation was observed with years of education (r: -0.15), participation in social activities (r: -0.22) or recreational activities (r: 0.35). Sociedad Argentina de Pediatría.

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

    Science.gov (United States)

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

    2016-03-01

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

  3. Dr Luigi Orlando, Dr Sergio Ceccuzzi, Dr. Armando Sbrana, Europa Metalli, Italy, Dr Albert Scherger, Member of KM Europa Metal AG, Osnabr ck, Germany, Prof. Filippo Menzinger, Scientific Attaché, Permanent Mission of Italy in Geneva

    CERN Multimedia

    Patrice Loïez

    2001-01-01

    Photo 01: Dr Lyn Evans and Dr Luigi Orlando Photo 04: L. to r.: Dr Lyn Evans, Dr Luigi Orlando, Prof. Luciano Maiani and Prof. Filippo Menzinger Photo 06: L. to r.: Prof. Philippo Menzinger, Dr Armando Sbrana, Prof. Luciano Maiani, Dr Albert Scherger, Dr Lyn Evans, Dr Luigi Orlando, Dr Sergio Ceccuzzi, visiting the LHC superconducting magnet test hall, SM18

  4. Stature and Its Estimation Utilizing Arm Span Measurements of both gender Adolescents from Southern Region in Kosovo

    Directory of Open Access Journals (Sweden)

    Fitim Arifi

    2018-06-01

    Full Text Available This study is based on measurements of Southern region Kosovan adolescents. The aim of this study was to examine the stature of adolescents from Southern region as well relationship between arm span and stature in both Kosovar genders. A total measured subject participated in this research was 225 out of which (105 girls and 120 boys, females average of age is 18.36±0.50 years old (range 18-20 years and for male 18.40±0.55 years old (range 18-20 years.The anthropometric measurements were done by trained people and were taken according to the ISAK manual. Relationship between stature and arm span has been analyzed by the simple correlation coeffi cient at a 95% confi dence interval. The linear regression analysis was carried out to examine extent to which arm span can reliably predict of stature. Statistical importance was placed at level p<0.05. As a result anthropometric measurements for both sexes showed that the average of stature for boys adolescents from Southern region are 178.60±5.73 centimeters and have the arm span average of 180.92±6.92 centimeters, while girls from Southern 165.33±4.45 centimeters tall, and have the arm span average of 165.60±6.03 centimeters. The results have shown that the arm span was estimated as a reliable indicator of stature assessment to the both genders adolescents from Southern region of Kosovo population. This study also confi rms the necessity for developing separate height models for each region in Kosovo.

  5. Dræb, dræb, dræb! Nej ... liiiige et øjeblik: De machiavelliske følelser i Game of Thrones

    DEFF Research Database (Denmark)

    Schubart, Rikke

    2013-01-01

    Blogindlæg om Machiavelliske følelser i HBO tv-serien Game of Thrones: "Dræb, dræb, dræb! Nej ... liiiige et øjeblik: De machiavelliske følelser i Game of Thrones"......Blogindlæg om Machiavelliske følelser i HBO tv-serien Game of Thrones: "Dræb, dræb, dræb! Nej ... liiiige et øjeblik: De machiavelliske følelser i Game of Thrones"...

  6. Dr.LiTHO: a development and research lithography simulator

    Science.gov (United States)

    Fühner, Tim; Schnattinger, Thomas; Ardelean, Gheorghe; Erdmann, Andreas

    2007-03-01

    This paper introduces Dr.LiTHO, a research and development oriented lithography simulation environment developed at Fraunhofer IISB to flexibly integrate our simulation models into one coherent platform. We propose a light-weight approach to a lithography simulation environment: The use of a scripting (batch) language as an integration platform. Out of the great variety of different scripting languages, Python proved superior in many ways: It exhibits a good-natured learning-curve, it is efficient, available on virtually any platform, and provides sophisticated integration mechanisms for existing programs. In this paper, we will describe the steps, required to provide Python bindings for existing programs and to finally generate an integrated simulation environment. In addition, we will give a short introduction into selected software design demands associated with the development of such a framework. We will especially focus on testing and (both technical and user-oriented) documentation issues. Dr.LiTHO Python files contain not only all simulation parameter settings but also the simulation flow, providing maximum flexibility. In addition to relatively simple batch jobs, repetitive tasks can be pooled in libraries. And as Python is a full-blown programming language, users can add virtually any functionality, which is especially useful in the scope of simulation studies or optimization tasks, that often require masses of evaluations. Furthermore, we will give a short overview of the numerous existing Python packages. Several examples demonstrate the feasibility and productiveness of integrating Python packages into custom Dr.LiTHO scripts.

  7. Long-term patterns of body mass and stature evolution within the hominin lineage.

    Science.gov (United States)

    Will, Manuel; Pablos, Adrián; Stock, Jay T

    2017-11-01

    Body size is a central determinant of a species' biology and adaptive strategy, but the number of reliable estimates of hominin body mass and stature have been insufficient to determine long-term patterns and subtle interactions in these size components within our lineage. Here, we analyse 254 body mass and 204 stature estimates from a total of 311 hominin specimens dating from 4.4 Ma to the Holocene using multi-level chronological and taxonomic analytical categories. The results demonstrate complex temporal patterns of body size variation with phases of relative stasis intermitted by periods of rapid increases. The observed trajectories could result from punctuated increases at speciation events, but also differential proliferation of large-bodied taxa or the extinction of small-bodied populations. Combined taxonomic and temporal analyses show that in relation to australopithecines, early Homo is characterized by significantly larger average body mass and stature but retains considerable diversity, including small body sizes. Within later Homo , stature and body mass evolution follow different trajectories: average modern stature is maintained from ca 1.6 Ma, while consistently higher body masses are not established until the Middle Pleistocene at ca 0.5-0.4 Ma, likely caused by directional selection related to colonizing higher latitudes. Selection against small-bodied individuals (less than 40 kg; less than 140 cm) after 1.4 Ma is associated with a decrease in relative size variability in later Homo species compared with earlier Homo and australopithecines. The isolated small-bodied individuals of Homo naledi ( ca 0.3 Ma) and Homo floresiensis ( ca 100-60 ka) constitute important exceptions to these general patterns, adding further layers of complexity to the evolution of body size within the genus Homo . At the end of the Late Pleistocene and Holocene, body size in Homo sapiens declines on average, but also extends to lower limits not seen in

  8. Childhood Stature and Growth in Relation to First Ischemic Stroke or Intracerebral Hemorrhage.

    Science.gov (United States)

    Gjærde, Line Klingen; Truelsen, Thomas Clement; Baker, Jennifer Lyn

    2018-03-01

    Attained height, an indicator of genetic potential and childhood growth environment, is inversely associated with stroke, but the mechanisms are poorly understood. We investigated whether childhood height and growth are associated with ischemic stroke (IS) and intracerebral hemorrhage (ICH). In a cohort of Danish schoolchildren born 1930 to 1989, with measured height from 7 to 13 years, we investigated associations of childhood stature and growth with risks of adult IS and ICH. Cox proportional hazards regressions were performed to estimate hazard ratios (HRs) with CIs separately for women and men. Among 311 009 individuals, 10 412 were diagnosed with IS and 2546 with ICH. Height at 7 years was inversely and significantly associated with IS in both sexes (per z score, equivalent to ≈5.2 cm in women and 5.1 cm in men; women: HR=0.89 [95% CI: 0.87-0.92]; men: HR=0.90 [95% CI: 0.88-0.92]) and with ICH in men (HR=0.89 [95% CI: 0.84-0.94]) but not in women (HR=0.97 [95% CI: 0.91-1.04]). Associations were similar at older childhood ages and were stable throughout the study period. No statistically significant associations for growth from 7 to 13 years were observed for IS or ICH. Short stature at 7 to 13 years is significantly associated with increased risks of IS in both sexes and with ICH in men. Growth during this period of childhood is not significantly associated with either of these stroke subtypes, suggesting that underlying mechanisms linking height with risks of stroke may exert their influence already by early childhood. © 2018 American Heart Association, Inc.

  9. Estimation of Stature from Arm Span in Medical Students of ...

    African Journals Online (AJOL)

    “Identification is an individual's birth right” United Nations. Declaration on ... stature from arm span (AS) for a region in Maharashtra, India. Subjects ... found correlation coefficient (R) of 0.89 in male and 0.90 in female using simple regression,.

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

    Science.gov (United States)

    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

    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.

  11. Evaluation of Stature Development During Childhood and Adolescence in Individuals with Familial Hypophosphatemic Rickets

    Science.gov (United States)

    Borghi, Mauro M.S.; Coates, Veronica; Omar, Hatim A.

    2005-01-01

    This review was conducted to study the diagnosis, treatment, and growth progression in infants and adolescents with familial hypophosphatemic rickets. The bibliographic search was carried out utilizing the electronic databases MEDLINE, OVID, and LILACS and by direct research within the last 15 years using the keywords rickets, familial hypophosphatemia, vitamin D deficiency, stature growth, childhood, and adolescence. Article selection was done by comparing the evaluation of the growth in patients with familial hypophosphatemic rickets, including the variables that might affect them, for possible future therapeutic proposals. It is concluded that the most significant fact in the treatment of familial hypophosphatemic rickets in infancy was the magnitude of the final stature. The use of growth hormone can be helpful in these patients. However, research reporting treatments with the use of the growth hormone for rickets are controversial. The majority of the authors agree that treatment using vitamin D and phosphate enables some statural growth in cases of early diagnosis, reflecting a better prognosis. PMID:16244755

  12. The Genetic Architecture of Barley Plant Stature

    Science.gov (United States)

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

    2016-01-01

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

  13. Studies on the Estimation of Stature from Hand and Foot Length of an Individual

    Directory of Open Access Journals (Sweden)

    O. S. Saka

    2016-10-01

    Full Text Available Background: Studies on the estimation of stature from hand and foot length of an individual are essential study in personal identification. Aim and Objectives: This study is to find out correlation between statures with hand and foot dimensions in both sexes and gender comparison from an individual in Lautech Staff College in Ogbomoso and College ogbomoso and College of Health Sciences, Obafemi Awolowo University, Ile-Ife, Nigeria. Material and Methods: A sample of 140 students and staff; 70 male and 70 female Students and staff of Lautech Staff College in Ogbomoso and College ogbomoso and College of Health Sciences, Obafemi Awolowo University, Ile-Ife, between 16-35years were considered and measurements were taken for each of the parameters. Gender differences for the two parameters were determined using Student t-test. Pearson's correlation coefficient (r was used to examine the relationship between two anthropometric parameters and standing height (stature. All these measurements were done by using standard anthropometric instruments and standard anthropometric techniques. Results: The findings of the study indicated that the males mean values are not significantly difference when compared with females mean values in all measured parameters. The study showed significant (p<0.001 positive correlation between the stature with hand lengths and foot lengths. The hand and foot length provide accurate and reliable means in establishing the height of an individual. Conclusion: This study will be useful for forensic scientists and anthropologists as well as anatomists in ascertain medico-legal cases

  14. Estimation of Stature from Arm Span in Medical Students of ...

    African Journals Online (AJOL)

    Unpaired t.test and simple linear regression were used. Results: Stature and AS of 400 medical students (219 males and 181 females) were measured. Subjects were divided into six groups depending upon age. Simple regression equation and multiplication factor for male and female and for each age group were derived ...

  15. Short-term dietary restriction and fasting precondition against ischemia reperfusion injury in mice.

    Science.gov (United States)

    Mitchell, James R; Verweij, Mariëlle; Brand, Karl; van de Ven, Marieke; Goemaere, Natascha; van den Engel, Sandra; Chu, Timothy; Forrer, Flavio; Müller, Cristina; de Jong, Marion; van IJcken, Wilfred; IJzermans, Jan N M; Hoeijmakers, Jan H J; de Bruin, Ron W F

    2010-02-01

    Dietary restriction (DR) extends lifespan and increases resistance to multiple forms of stress, including ischemia reperfusion injury to the brain and heart in rodents. While maximal effects on lifespan require long-term restriction, the kinetics of onset of benefits against acute stress is not known. Here, we show that 2-4 weeks of 30% DR improved survival and kidney function following renal ischemia reperfusion injury in mice. Brief periods of water-only fasting were similarly effective at protecting against ischemic damage. Significant protection occurred within 1 day, persisted for several days beyond the fasting period and extended to another organ, the liver. Protection by both short-term DR and fasting correlated with improved insulin sensitivity, increased expression of markers of antioxidant defense and reduced expression of markers of inflammation and insulin/insulin-like growth factor-1 signaling. Unbiased transcriptional profiling of kidneys from mice subject to short-term DR or fasting revealed a significant enrichment of signature genes of long-term DR. These data demonstrate that brief periods of reduced food intake, including short-term daily restriction and fasting, can increase resistance to ischemia reperfusion injury in rodents and suggest a rapid onset of benefits of DR in mammals.

  16. Estimation of Stature from Footprint Anthropometry Using Regression Analysis: A Study on the Bidayuh Population of East Malaysia

    Directory of Open Access Journals (Sweden)

    T. Nataraja Moorthy

    2015-05-01

    Full Text Available The human foot has been studied for a variety of reasons, i.e., for forensic as well as non-forensic purposes by anatomists, forensic scientists, anthropologists, physicians, podiatrists, and numerous other groups. An aspect of human identification that has received scant attention from forensic anthropologists is the study of human feet and the footprints made by the feet. The present study, conducted during 2013-2014, aimed to derive population specific regression equations to estimate stature from the footprint anthropometry of indigenous adult Bidayuhs in the east of Malaysia. The study sample consisted of 480 bilateral footprints collected using a footprint kit from 240 Bidayuhs (120 males and 120 females, who consented to taking part in the study. Their ages ranged from 18 to 70 years. Stature was measured using a portable body meter device (SECA model 206. The data were analyzed using PASW Statistics version 20. In this investigation, better results were obtained in terms of correlation coefficient (R between stature and various footprint measurements and regression analysis in estimating the stature. The (R values showed a positive and statistically significant (p < 0.001 relationship between the two parameters. The correlation coefficients in the pooled sample (0.861–0.882 were comparatively higher than those of an individual male (0.762-0.795 and female (0.722-0.765. This study provided regression equations to estimate stature from footprints in the Bidayuh population. The result showed that the regression equations without sex indicators performed significantly better than models with gender indications. The regression equations derived for a pooled sample can be used to estimate stature, even when the sex of the footprint is unknown, as in real crime scenes.

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

    Science.gov (United States)

    2011-01-01

    Background Establishing personal identity is one of the main concerns in forensic investigations. Estimation of stature forms a basic domain of the investigation process in unknown and co-mingled human remains in forensic anthropology case work. The objective of the present study was to set up standards for estimation of stature from the foot and its segments in a sub-adult female population. Methods The sample for the study constituted 149 young females from the Northern part of India. The participants were aged between 13 and 18 years. Besides stature, seven anthropometric measurements that included length of the foot from each toe (T1, T2, T3, T4, and T5 respectively), foot breadth at ball (BBAL) and foot breadth at heel (BHEL) were measured on both feet in each participant using standard methods and techniques. Results The results indicated that statistically significant differences (p forensic examination. Stepwise multiple regression models tend to estimate stature more accurately than linear regression models in female sub-adults. PMID:22104433

  18. Galande, Dr Sanjeev

    Indian Academy of Sciences (India)

    Elected: 2010 Section: General Biology. Galande, Dr Sanjeev Ph.D. (IISc). Date of birth: 20 September 1967. Specialization: Epigenetics, Chromatin Biology, Gene Regulation, Genomics and Proteomics Address: Centre for Excellence in Epigenetics, Indian Institute of Science Education, & Research, Dr Homi Bhabha Road, ...

  19. Gaia DR2 documentation

    Science.gov (United States)

    van Leeuwen, F.; de Bruijne, J. H. J.; Arenou, F.; Bakker, J.; Blomme, R.; Busso, G.; Cacciari, C.; Castañeda, J.; Cellino, A.; Clotet, M.; Comoretto, G.; Eyer, L.; González-Núñez, J.; Guy, L.; Hambly, N.; Hobbs, D.; van Leeuwen, M.; Luri, X.; Manteiga, M.; Pourbaix, D.; Roegiers, T.; Salgado, J.; Sartoretti, P.; Tanga, P.; Ulla, A.; Utrilla Molina, E.; Abreu, A.; Altmann, M.; Andrae, R.; Antoja, T.; Audard, M.; Babusiaux, C.; Bailer-Jones, C. A. L.; Barache, C.; Bastian, U.; Beck, M.; Berthier, J.; Bianchi, L.; Biermann, M.; Bombrun, A.; Bossini, D.; Breddels, M.; Brown, A. G. A.; Busonero, D.; Butkevich, A.; Cantat-Gaudin, T.; Carrasco, J. M.; Cheek, N.; Clementini, G.; Creevey, O.; Crowley, C.; David, M.; Davidson, M.; De Angeli, F.; De Ridder, J.; Delbò, M.; Dell'Oro, A.; Diakité, S.; Distefano, E.; Drimmel, R.; Durán, J.; Evans, D. W.; Fabricius, C.; Fabrizio, M.; Fernández-Hernández, J.; Findeisen, K.; Fleitas, J.; Fouesneau, M.; Galluccio, L.; Gracia-Abril, G.; Guerra, R.; Gutiérrez-Sánchez, R.; Helmi, A.; Hernandez, J.; Holl, B.; Hutton, A.; Jean-Antoine-Piccolo, A.; Jevardat de Fombelle, G.; Joliet, E.; Jordi, C.; Juhász, Á.; Klioner, S.; Löffler, W.; Lammers, U.; Lanzafame, A.; Lebzelter, T.; Leclerc, N.; Lecoeur-Taïbi, I.; Lindegren, L.; Marinoni, S.; Marrese, P. M.; Mary, N.; Massari, D.; Messineo, R.; Michalik, D.; Mignard, F.; Molinaro, R.; Molnár, L.; Montegriffo, P.; Mora, A.; Mowlavi, N.; Muinonen, K.; Muraveva, T.; Nienartowicz, K.; Ordenovic, C.; Pancino, E.; Panem, C.; Pauwels, T.; Petit, J.; Plachy, E.; Portell, J.; Racero, E.; Regibo, S.; Reylé, C.; Rimoldini, L.; Ripepi, V.; Riva, A.; Robichon, N.; Robin, A.; Roelens, M.; Romero-Gómez, M.; Sarro, L.; Seabroke, G.; Segovia, J. C.; Siddiqui, H.; Smart, R.; Smith, K.; Sordo, R.; Soria, S.; Spoto, F.; Stephenson, C.; Turon, C.; Vallenari, A.; Veljanoski, J.; Voutsinas, S.

    2018-04-01

    The second Gaia data release, Gaia DR2, encompasses astrometry, photometry, radial velocities, astrophysical parameters (stellar effective temperature, extinction, reddening, radius, and luminosity), and variability information plus astrometry and photometry for a sample of pre-selected bodies in the solar system. The data collected during the first 22 months of the nominal, five-year mission have been processed by the Gaia Data Processing and Analysis Consortium (DPAC), resulting into this second data release. A summary of the release properties is provided in Gaia Collaboration et al. (2018b). The overall scientific validation of the data is described in Arenou et al. (2018). Background information on the mission and the spacecraft can be found in Gaia Collaboration et al. (2016), with a more detailed presentation of the Radial Velocity Spectrometer (RVS) in Cropper et al. (2018). In addition, Gaia DR2 is accompanied by various, dedicated papers that describe the processing and validation of the various data products. Four more Gaia Collaboration papers present a glimpse of the scientific richness of the data. In addition to this set of refereed publications, this documentation provides a detailed, complete overview of the processing and validation of the Gaia DR2 data. Gaia data, from both Gaia DR1 and Gaia DR2, can be retrieved from the Gaia archive, which is accessible from https://archives.esac.esa.int/gaia. The archive also provides various tutorials on data access and data queries plus an integrated data model (i.e., description of the various fields in the data tables). In addition, Luri et al. (2018) provide concrete advice on how to deal with Gaia astrometry, with recommendations on how best to estimate distances from parallaxes. The Gaia archive features an enhanced visualisation service which can be used for quick initial explorations of the entire Gaia DR2 data set. Pre-computed cross matches between Gaia DR2 and a selected set of large surveys are

  20. Modulation of TRAIL resistance in colon carcinoma cells: Different contributions of DR4 and DR5

    International Nuclear Information System (INIS)

    Geelen, Caroline MM van; Pennarun, Bodvael; Le, Phuong TK; Vries, Elisabeth GE de; Jong, Steven de

    2011-01-01

    rhTRAIL is a therapeutic agent, derived from the TRAIL cytokine, which induces apoptosis in cancer cells by activating the membrane death receptors 4 and 5 (DR4 and DR5). Here, we investigated each receptor's contribution to rhTRAIL sensitivity and rhTRAIL resistance. We assessed whether agonistic DR4 or DR5 antibodies could be used to circumvent rhTRAIL resistance, alone or in combination with various chemotherapies. Our study was performed in an isogenic model comprised of the SW948 human colon carcinoma cell line and its rhTRAIL resistant sub-line SW948-TR. Effects of rhTRAIL and agonistic DR4/DR5 antibodies on cell viability were measured using MTT assays and identification of morphological changes characteristic of apoptosis, after acridine orange staining. Sensitivity to the different death receptor ligands was stimulated using pretreatment with the cytokine IFN-gamma and the proteasome inhibitor MG-132. To investigate the mechanisms underlying the changes in rhTRAIL sensitivity, alterations in expression levels of targets of interest were measured by Western blot analysis. Co-immunoprecipitation was used to determine the composition of the death-inducing signalling complex at the cell membrane. SW948 cells were sensitive to all three of the DR-targeting agents tested, although the agonistic DR5 antibody induced only weak caspase 8 cleavage and limited apoptosis. Surprisingly, agonistic DR4 and DR5 antibodies induced equivalent DISC formation and caspase 8 cleavage at the level of their individual receptors, suggesting impairment of further caspase 8 processing upon DR5 stimulation. SW948-TR cells were cross-resistant to all DR-targeting agents as a result of decreased caspase 8 expression levels. Caspase 8 protein expression was restored by MG-132 and IFN-gamma pretreatment, which also re-established sensitivity to rhTRAIL and agonistic DR4 antibody in SW948-TR. Surprisingly, MG-132 but not IFN-gamma could also increase DR5-mediated apoptosis in SW948

  1. Modulation of TRAIL resistance in colon carcinoma cells: Different contributions of DR4 and DR5

    Directory of Open Access Journals (Sweden)

    de Vries Elisabeth GE

    2011-01-01

    Full Text Available Abstract Background rhTRAIL is a therapeutic agent, derived from the TRAIL cytokine, which induces apoptosis in cancer cells by activating the membrane death receptors 4 and 5 (DR4 and DR5. Here, we investigated each receptor's contribution to rhTRAIL sensitivity and rhTRAIL resistance. We assessed whether agonistic DR4 or DR5 antibodies could be used to circumvent rhTRAIL resistance, alone or in combination with various chemotherapies. Methods Our study was performed in an isogenic model comprised of the SW948 human colon carcinoma cell line and its rhTRAIL resistant sub-line SW948-TR. Effects of rhTRAIL and agonistic DR4/DR5 antibodies on cell viability were measured using MTT assays and identification of morphological changes characteristic of apoptosis, after acridine orange staining. Sensitivity to the different death receptor ligands was stimulated using pretreatment with the cytokine IFN-gamma and the proteasome inhibitor MG-132. To investigate the mechanisms underlying the changes in rhTRAIL sensitivity, alterations in expression levels of targets of interest were measured by Western blot analysis. Co-immunoprecipitation was used to determine the composition of the death-inducing signalling complex at the cell membrane. Results SW948 cells were sensitive to all three of the DR-targeting agents tested, although the agonistic DR5 antibody induced only weak caspase 8 cleavage and limited apoptosis. Surprisingly, agonistic DR4 and DR5 antibodies induced equivalent DISC formation and caspase 8 cleavage at the level of their individual receptors, suggesting impairment of further caspase 8 processing upon DR5 stimulation. SW948-TR cells were cross-resistant to all DR-targeting agents as a result of decreased caspase 8 expression levels. Caspase 8 protein expression was restored by MG-132 and IFN-gamma pretreatment, which also re-established sensitivity to rhTRAIL and agonistic DR4 antibody in SW948-TR. Surprisingly, MG-132 but not IFN

  2. Dr. Wernher von Braun and Dr. Ernst Stuhlinger Sign Citizenship Certificates

    Science.gov (United States)

    1955-01-01

    The members of the Peenemuende team and their family members were awarded the United States citizenship on April 14, 1955. Pictured here is Dr. Ernst Stuhlinger (middle) and Dr. Wernher von Braun signing U.S. citizenship certificates. Martin Schilling is at left.

  3. Growth hormone responsiveness: peak stimulated growth hormone levels and other variables in idiopathic short stature (ISS): data from the National Cooperative Growth Study.

    Science.gov (United States)

    Moore, Wayne V; Dana, Ken; Frane, James; Lippe, Barbara

    2008-09-01

    In children with idiopathic short stature (ISS), growth hormone (GH) response to a provocative test will be inversely related to the first year response to hGH and be a variable accounting for a degree of responsiveness. Because high levels of GH are a characteristic of GH insensitivity, such as in Laron syndrome, it is possible that a high stimulated GH is associated with a lower first year height velocity among children diagnosed as having ISS. We examined the relationship between the peak stimulated GH levels in 3 ISS groups; GH >10 -40 ng/mL and the first year growth response to rhGH therapy. We also looked at 8 other predictor variables (age, sex, height SDS, height age, body mass index (BMI), bone age, dose, and SDS deficit from target parental height. Multiple regression analysis with the first year height as the dependent variable and peak stimulated GH was the primary endpoint. The predictive value of adding each of the other variables was then assessed. Mean change in height velocity was similar among the three groups, with a maximum difference among the groups of 0.6 cm/yr. There was a small but statistically significant correlation (r=-0.12) between the stimulated GH and first year height velocity. The small correlation between first year growth response and peak GH is not clinically relevant in defining GH resistance. No cut off level by peak GH could be determined to enhance the usefulness of this measure to predict response. Baseline age was the only clinically significant predictor, R-squared, 6.4%. All other variables contributed less than an additional 2% to the R-squared.

  4. Dr Math at your service

    CSIR Research Space (South Africa)

    Butgereit, L

    2012-10-01

    Full Text Available In this presentation the author explains how the Dr Math service works; how tutors are recruited to act as Dr Math; and how school pupils can reach Dr Math for help with their mathematics homework....

  5. Meta-analysis of genome-wide association studies for cattle stature identifies common genes that regulate body size in mammals

    NARCIS (Netherlands)

    Bouwman, Aniek C.; Daetwyler, Hans D.; Chamberlain, Amanda J.; Ponce, Carla Hurtado; Sargolzaei, Mehdi; Schenkel, Flavio S.; Sahana, Goutam; Govignon-Gion, Armelle; Boitard, Simon; Dolezal, Marlies; Pausch, Hubert; Brøndum, Rasmus F.; Bowman, Phil J.; Thomsen, Bo; Guldbrandtsen, Bernt; Lund, Mogens S.; Servin, Bertrand; Garrick, Dorian J.; Reecy, James; Vilkki, Johanna; Bagnato, Alessandro; Wang, Min; Hoff, Jesse L.; Schnabel, Robert D.; Taylor, Jeremy F.; Vinkhuyzen, Anna A.E.; Panitz, Frank; Bendixen, Christian; Holm, Lars Erik; Gredler, Birgit; Hozé, Chris; Boussaha, Mekki; Sanchez, Marie Pierre; Rocha, Dominique; Capitan, Aurelien; Tribout, Thierry; Barbat, Anne; Croiseau, Pascal; Drögemüller, Cord; Jagannathan, Vidhya; Vander Jagt, Christy; Crowley, John J.; Bieber, Anna; Purfield, Deirdre C.; Berry, Donagh P.; Emmerling, Reiner; Götz, Kay Uwe; Frischknecht, Mirjam; Russ, Ingolf; Sölkner, Johann; Tassell, van Curtis P.; Fries, Ruedi; Stothard, Paul; Veerkamp, Roel F.; Boichard, Didier; Goddard, Mike E.; Hayes, Ben J.

    2018-01-01

    Stature is affected by many polymorphisms of small effect in humans1. In contrast, variation in dogs, even within breeds, has been suggested to be largely due to variants in a small number of genes2,3. Here we use data from cattle to compare the genetic architecture of stature to those in humans and

  6. Hipertensão, obesidade abdominal e baixa estatura: aspectos da transição nutricional em uma população favelada Hypertension, abdominal obesity and short stature: aspects of nutritional transition within a shantytown in the city of Maceió (Northeastern Brazil

    Directory of Open Access Journals (Sweden)

    Haroldo da Silva Ferreira

    2005-04-01

    Full Text Available OBJETIVO: Investigar, em mulheres de muito baixa renda, a prevalência e a associação entre a baixa estatura, o sobrepeso, a obesidade abdominal e a hipertensão arterial, discutindo os achados, segundo o processo de transição nutricional e a hipótese da programação fetal (hipótese Barker. MÉTODOS: Foram estudadas 223 mulheres de 18 a 65 anos, por meio dos seguintes indicadores: índice de massa corporal (kg/m² >25 para sobrepeso + obesidade ou 0,8 para obesidade abdominal; pressão arterial sistólica e/ou diastólica >140/90mmHg para hipertensão; percentil 25 (1º quartil para baixa estatura. RESULTADOS: A prevalência de sobrepeso + obesidade (35,9% foi superior à de magreza (9,4%. A pressão diastólica associou-se com o índice de massa corporal (r=0,37; IC 95%: 0,01 OBJECTIVE: To investigate the frequency of occurrence of short stature, overweight, abdominal obesity and arterial hypertension, and the possible correlations among such factors, in women of very low income. The findings were considered in terms of nutrition transition and the Barker's programming hypothesis. METHODS: A group of 223 women, 18 to 65 years of age, were studied with respect to the following parameters: for body mass index (kg/m², values >25 indicated overweight and obesity, whilst values 0.8 indicated abdominal adiposity; for systolic/diastolic blood pressure, values >140/90 mm Hg indicated hypertension; and for height, values within the 25th percentile (1st quartile indicated short stature. RESULTS: The frequency of occurrence of overweight and obesity (present in 35.9% of the group was greater than that of underweight (9.4% of the group. The diastolic blood pressure was positively associated with body mass index (r= 0.37; CI 95,0%: 0.01

  7. Drømmejobbet

    DEFF Research Database (Denmark)

    Harrebye, Silas

    2012-01-01

    Medarbejdere vil i fremtiden også kunne arbejde, mens de sover. Virksomheder tilbyder snart deres ansatte interne kurser i ‘lucid dreaming’. Disse giver mulighed for, at man i sine drømme bliver bevidst om, at man drømmer og således kan manipulere dem. Det skal nu udnyttes. Management...

  8. Short fusion

    CERN Multimedia

    2002-01-01

    French and UK researchers are perfecting a particle accelerator technique that could aid the quest for fusion energy or make X-rays that are safer and produce higher-resolution images. Led by Dr Victor Malka from the Ecole Nationale Superieure des Techniques Avancees in Paris, the team has developed a better way of accelerating electrons over short distances (1 page).

  9. Large Customers (DR Sellers)

    Energy Technology Data Exchange (ETDEWEB)

    Kiliccot, Sila [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States)

    2011-10-25

    State of the large customers for demand response integration of solar and wind into electric grid; openADR; CAISO; DR as a pseudo generation; commercial and industrial DR strategies; California regulations

  10. Prava trećih država u gospodarskom pojasu obalne države

    Directory of Open Access Journals (Sweden)

    Marina Vokić Žužul

    2003-12-01

    Full Text Available Predmet ovoga rada je analiza prava koja u gospodarskom pojasu obalne države mogu ostvarivati sve obalne i neobalne države. uz detaljan prikaz pravnog uređenja materije u odredbama Konvencije o pravu mora iz 1982., razmatraju se i vladajuća gledišta međunarodnopravne doktrine te rješenja u zakonodavstvima pojedinih zemalja. Posebna pozornost je posvećena ostvarivanju tuh prava u potencijalnom hrvatskom gospodarskom pojasu, prvenstveno mogućim zahtjevima od strane susjednih neobalnih država i država u nepovoljnom geografskom položaju. Sva pitanja razmatrana u ovom radu upućuju na zaključak da ispunjavanje dužnosti prema drugim državama u budućem gospodarskom pojasu RH ne bi trebalo imati utjecaja na donošenje odluke o njegovom proglašenju.

  11. Show: Dr. H, the life and death of pancakes

    CERN Multimedia

    2012-01-01

    Dr. H, the life and death of pancakes, a comic theatrical creation, written and performed by Heiko Buchholz.   Monday 2 April 2012 in German Tuesday 3 April 2012 in English Wednesday 4 April 2012 in French 8:30 p.m. at the Globe of Science and Innovation. This production takes a comic look at scientific methods, as applied to a common object: the pancake. More specifically, Dr H. regales his audience with statistics, experiments and scientific data surrounding this egg-and-milk-based culinary delight. And although these zany sketches are nothing short of absurd, the audience is drawn in more often than you might expect… and taken on quite an unexpected journey into the behavioural disorders, personality quirks and psychoanalysis of the base pancake. This show playfully mocks scientific logic and discourse, forcing the audience to reflect on their gullibility in the face of science and its impenetrable jargon. It purports to be neither explanation nor illustration of scientific fact,...

  12. Short Adolescents Born Small for Gestational Age : Gonadal and thyroid function, bone mineral density, quality of life and adult height: The effects of growth hormone and additional postponement of puberty

    NARCIS (Netherlands)

    A.J. Lem (Annemieke)

    2012-01-01

    textabstractFrom 1991, our research group and others have been investigating children with short stature who were born small for gestational age (SGA), both before and during treatment with biosynthetic growth hormone (GH). In 2005, GH treatment was licensed for short SGA children in the

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

    Science.gov (United States)

    ... diabetes. Most people with SHORT syndrome have normal intelligence, although a few have been reported with mild ... is important for many cell activities, including cell growth and division, movement (migration) of cells, production of ...

  14. Meta-analysis of genome wide association studies for the stature of cattle reveals numerous common genes that regulate size in mammals

    Science.gov (United States)

    Stature is affected by many polymorphisms of small effect in humans but in contrast variation in dogs, even within breeds is largely due to variants in six genes. Here we use data from cattle to compare genetic architecture of stature to that in humans and dogs. We conducted a meta-analysis for stat...

  15. Enrico Fermi Awards Ceremony for Dr. Mildred S. Dresselhaus and Dr. Burton Richter, May 2012 (Presentations, including remarks by Energy Secretary, Dr. Steven Chu)

    International Nuclear Information System (INIS)

    Chu, Steven

    2012-01-01

    The Fermi Award is a Presidential award and is one of the oldest and most prestigious science and technology honors bestowed by the U.S. Government. On May 7, 2012 it was conferred upon two exceptional scientists: Dr. Mildred Dresselhaus, 'for her scientific leadership, her major contributions to science and energy policy, her selfless work in science education and the advancement of diversity in the scientific workplace, and her highly original and impactful research,' and Dr. Burton Richter, 'for the breadth of his influence in the multiple disciplines of accelerator physics and particle physics, his profound scientific discoveries, his visionary leadership as SLAC Director, his leadership of science, and his notable contributions in energy and public policy.' Dr. John Holder, Director of the White House Office of Science and Technology Policy, opened the ceremony, and Dr. Bill Brinkman, Director of DOE's Office of Science introduced the main speaker, Dr. Steven Chu, U.S. Energy Secretary.

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

    Science.gov (United States)

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

    2005-11-01

    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 density (vBMD) at the lumbar spine (LS) and femoral neck (FN) in 77 children (aged 3-17 years) with ISS (n = 57) and GHD (n = 20). Fifty-five children (GHD = 13) receiving GH were followed over 24 months including measurement of bone turnover. At diagnosis, size-corrected TB BMC SDS was greater (P bone relation, as assessed by the BMC/lean mass (LTM) ratio SDS was not different between groups. During GH therapy, prepubertal GHD children gained more height (1.58 [0.9] SDS) and LTM (0.87 [0.63] SDS) compared to prepubertal ISS children (0.75 [0.27] and 0.17 [0.25] SDS, respectively). Percent body fat decreased in GHD (-5.94% [4.29]) but not in ISS children. Total body BMC accrual was less than predicted in all groups accompanied by an increase in bone turnover. Puberty led to the greatest absolute, but not relative, increments in weight, LTM, BMI, bone mass, and LSvBMD. Our results show that children with ISS and GHD differ in their response to GH therapy in anthropometry, body composition, and bone measures. Despite low vBMD values at diagnosis in both prepubertal groups, size-corrected regional or TB bone data were generally within the normal range and did not increase during GH therapy in GHD or ISS children. Growth hormone had great effects on the growth plate and body composition with subsequent gains in height, LTM, bone turnover, and bone mass accrual, but no benefit for volumetric bone density over 2 years.

  17. Reanalysis of the Trotter Tibia Quandary and its Continued Effect on Stature Estimation of Past-Conflict Service Members.

    Science.gov (United States)

    Lynch, Jeffrey James; Brown, Carrie; Palmiotto, Andrea; Maijanen, Heli; Damann, Franklin

    2018-04-23

    Forensic casework from past-conflicts relies on the corrected historical Trotter data for stature estimation in Fordisc. For roughly 10 years', stature estimation using this data has produced point estimates for the tibia that are on average 1.25 inches less than the other long bones. This issue was identified after applying the equations derived from Fordisc to the USS Oklahoma commingled assemblage. Reevaluation of Fordisc revealed that a correction factor of 20 mm, instead of 10 mm, was mistakenly applied to the Trotter tibia data. Historical forensic anthropology reports written at the Defense POW/MIA Accounting Agency were utilized to identify that the overcorrection is isolated to Fordisc 3 with an error rate of 5% of known antemortem statures falling outside of the prediction intervals that relied on the tibia. Further evaluation of the Oklahoma sample indicates the 10 mm correction is still producing point estimates less than the other long bones. © 2018 American Academy of Forensic Sciences.

  18. In Memoriam: Dr. Frank John Fenner

    Centers for Disease Control (CDC) Podcasts

    This podcast reflects on one of the greatest pioneers in virology, Dr. Frank John Fenner. Dr. Frederick Murphy, a member of EID's editorial board and the Institute of Medicine, and professor of Pathology at the University of Texas Medical Branch in Galveston, shares professional and personal stories of Dr. Frank Fenner.

  19. 95 GHz methanol masers near DR 21 and DR 21(OH)

    International Nuclear Information System (INIS)

    Plambeck, R.L.; Menten, K.M.

    1990-01-01

    The BIMA array is used to map the 95-GHz 8(0) to 7 1A(+) transition of methanol and the 98-GHz J = 2-1 transition of CS toward the DR 21(OH) and DR 21 star-forming regions. Several strong methanol masers were found. The positions of the two brightest masers were measured with an accuracy of about + or - 0.3 arcsec. Toward DR 21(OH), the positions, velocities, and line shapes of the 95 GHz masers are in excellent agreement with those of the 84-GHz 5(-1) to 4 () methanol masers previously mapped by Batrla and Menten (1988), demonstrating that maser emission in both transitions originates from the same clumps of gas. The methanol masers are offset from CS emission peaks and from other known infrared and maser sources; they may possibly be clustered along the interface between outflows, traced by shock-excited H2 emission, and dense ambient gas, traced by CS emission. 25 refs

  20. Human radiation studies: Remembering the early years. Oral history of Dr. John W. Gofman, M.D., Ph.D., December 20, 1994

    International Nuclear Information System (INIS)

    1995-06-01

    Dr. John W. Gofman was interviewed by representatives of US DOE Office of Human Radiation Experiments (OHRE) concerning his research at the University of California, Berkeley and his biomedical work at Lawrence Livermore Radiation Laboratory. Following a short biographical sketch, Dr. Gofman relates his remembrances with the discovery and chemistry of uranium-233, the Manhattan project, laboratory production of the first milligram of plutonium, pre-1945 medical use of high-dosage radiation, medical treatments with phosphorus 32, and fallout. Dr. Gofman also discusses his relationships with Professor Oppenheimer, Joe Hamilton, Ernest Lawrence, and other. Then Dr. Gofman describes his pioneering work on his true interests concerning heart disease, heparin, and lipoproteins. Finally intra-AEC political issues are discussed relating to testing of atomic weapons

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

    Science.gov (United States)

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

    2014-06-01

    Patients with low back pain often demonstrate elevated paraspinal muscle activity compared to asymptomatic controls. This hyperactivity has been associated with a delayed rate of stature recovery following spinal loading tasks. The aim of this study was to investigate the changes in muscle activity and stature recovery in patients with chronic low back pain following an active rehabilitation programme. The body height recovery over a 40-min unloading period was assessed via stadiometry and surface electromyograms were recorded from the paraspinal muscles during standing. The measurements were repeated after patients had attended the rehabilitation programme and again at a six-month follow-up. Analysis was based on 17 patients who completed the post-treatment analysis and 12 of these who also participated in the follow-up. By the end of the six months, patients recovered significantly more height during the unloading session than at their initial visit (ES = 1.18; P < 0.01). Greater stature recovery immediately following the programme was associated with decreased pain (r = -0.55; P = 0.01). The increased height gain after six months suggests that delayed rates of recovery are not primarily caused by disc degeneration. Muscle activity did not decrease after treatment, perhaps reflecting a period of adaptation or altered patterns of motor control. Copyright © 2014 Elsevier Ltd. All rights reserved.

  2. Dr Stanislaw Huskowski, Mayor of Wroclaw, Poland

    CERN Multimedia

    Patrice Loïez

    2002-01-01

    Dr Stanislaw Huskowski, Mayor of Wroclaw, Poland visiting the ATLAS magnet assembly hall, building 180 with Mr Carlo Lamprecht, State Councillor, Dr Stanislaw Huskowski and Dr Peter Jenni, ATLAS Spokesperson

  3. Dr Stanislaw Huskowski, Mayor of Wroclaw, Poland

    CERN Multimedia

    Patrice Loïez

    2002-01-01

    Dr Stanislaw Huskowski, Mayor of Wroclaw, Poland visiting the ATLAS magnet assembly hall, building 180. From l to r: Mr Carlo Lamprecht, State Councillor, Dr Stanislaw Huskowski and Dr Peter Jenni, ATLAS Spokesperson

  4. Short-term Assessment of HSCT Effects on the Hypothalamus-Pituitary Axis in Pediatric Thalassemic Patients.

    Science.gov (United States)

    Hamidieh, Amir Ali; Mohseni, Fariba; Behfar, Maryam; Hamidi, Zohreh; Alimoghaddam, Kamran; Pajouhi, Mohamad; Larijani, Bagher; Mohajeri-Tehrani, Mohammad-Reza; Ghavamzadeh, Ardeshir

    2018-02-01

    Beta thalassemia major (BTM) and its treatment by hematopoietic stem cell transplantation (HSCT) may have deleterious effects on the endocrine systems. We assessed endocrine complications of HSCT in pediatric patients for 3 months. In 20 (6 female) pediatric major thalassemic patients (mean age of 10.8 ± 3.9 years old), prolactin, luteinizing hormone (LH), follicle-stimulating hormone (FSH), T4, T3, thyroid-stimulating hormone (TSH), IGF-1, testosterone (in males) or estradiol (in females) were measured as a batch at the Endocrinology and Metabolism Research Center (EMRC) of Tehran University of Medical Sciences (TUMS) laboratories before HSCT and 1 and 3 months afterwards. The cosyntropin test for all and the clonidine test for short stature patients was conducted before HSCT. Before HSCT, delayed puberty and hypogonadotropic hypogonadism was found in 10% and 20% of patients, respectively. GH deficiency, low IGF1 and short stature was found in 25%, 55% and 40% of patients, respectively. Hypocortisolism, hypothyroidism and panhypopituitarism was found in 15%, 10% and 15% of patients, respectively. Prevalence of hypogonadotropic hypogonadism, low IGF1, hypothyroidism and panhypopituitarism was found in 20%, 40%, 10% and 10% of patients after 3 months, respectively (delayed puberty and short stature prevalence do not change after 3 months). HSCT caused lower T3 and estradiol and higher TSH. Corticosteroid users (15) had higher GH and lower T3 and testosterone or estradiol. Ferritin had a significant (negative) correlation with (before) prolactin and a significant correlation with T3 and T4 after HSCT. Age and acute graft-versus-host disease (GVHD) had no significant effect. Considering the small sample size and short duration of the study, it is difficult to reach any conclusion however it seems HSCT does not appear to have an overall positive or negative effect on prevalence of pituitary- hypothalamus axis disorders in pediatric thalassemic patients in 3 months.

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

    NARCIS (Netherlands)

    Poorter, L.; Bongers, F.J.J.M.; Sterck, F.J.; Wöll, H.

    2003-01-01

    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

  6. Dr Pugh: a poisoner?

    Science.gov (United States)

    Paull, J D; Morris, G M

    2012-07-01

    On 16 February 1845 the Reverend W. H. Browne, rector of St John's Church in Launceston, Van Diemen's Land, wrote in his journal, "My dear Wife died very suddenly almost immediately after and in consequence of taking a preparation of Hyd. Cyan. Acid prepared & supplied by Dr Pugh". This journal entry raises a number of questions. Was Dr Pugh treating a condition which he thought merited that treatment or was it a ghastly mistake? Was Caroline Browne suffering from pulmonary tuberculosis? Was hydrocyanic acid an accepted treatment at that time? Did Mrs Browne take the wrong dose? Was an incorrect concentration of the drug prepared by Dr Pugh? Did he use the wrong pharmacopoeia in preparing the hydrocyanic acid? Why was there no inquest? Only some of these questions can be answered.

  7. Evaluation of semi-dwarf mutants in triticale and wheat breeding programmes

    International Nuclear Information System (INIS)

    Driscoll, C.J.

    1982-01-01

    A number of short-statured triticale plants were selected in M 4 following gamma-ray or EMS treatment of seed of Beagle and DR-IRA triticales. Selection for homozygous mutants will be attempted in M 5 . The Cornerstone male sterility mutant mslc is being combined with the three GA-insensitive, reduced-height mutants Gai/Rht1, Gai/Rht2 and Gai/Rht3 in order to establish a composite cross based on homozygosity of a given Gai/Rht allele. This would allow selection for minor genes for increased height on a GA-insensitive, reduced-height background. (author)

  8. Pathogenesis of Human Diffusely Adhering Escherichia coli Expressing Afa/Dr Adhesins (Afa/Dr DAEC): Current Insights and Future Challenges

    Science.gov (United States)

    2014-01-01

    SUMMARY The pathogenicity and clinical pertinence of diffusely adhering Escherichia coli expressing the Afa/Dr adhesins (Afa/Dr DAEC) in urinary tract infections (UTIs) and pregnancy complications are well established. In contrast, the implication of intestinal Afa/Dr DAEC in diarrhea is still under debate. These strains are age dependently involved in diarrhea in children, are apparently not involved in diarrhea in adults, and can also be asymptomatic intestinal microbiota strains in children and adult. This comprehensive review analyzes the epidemiology and diagnosis and highlights recent progress which has improved the understanding of Afa/Dr DAEC pathogenesis. Here, I summarize the roles of Afa/Dr DAEC virulence factors, including Afa/Dr adhesins, flagella, Sat toxin, and pks island products, in the development of specific mechanisms of pathogenicity. In intestinal epithelial polarized cells, the Afa/Dr adhesins trigger cell membrane receptor clustering and activation of the linked cell signaling pathways, promote structural and functional cell lesions and injuries in intestinal barrier, induce proinflammatory responses, create angiogenesis, instigate epithelial-mesenchymal transition-like events, and lead to pks-dependent DNA damage. UTI-associated Afa/Dr DAEC strains, following adhesin-membrane receptor cell interactions and activation of associated lipid raft-dependent cell signaling pathways, internalize in a microtubule-dependent manner within urinary tract epithelial cells, develop a particular intracellular lifestyle, and trigger a toxin-dependent cell detachment. In response to Afa/Dr DAEC infection, the host epithelial cells generate antibacterial defense responses. Finally, I discuss a hypothetical role of intestinal Afa/Dr DAEC strains that can act as “silent pathogens” with the capacity to emerge as “pathobionts” for the development of inflammatory bowel disease and intestinal carcinogenesis. PMID:25278576

  9. Do centimetres matter? Self-reported versus estimated height measurements in parents.

    Science.gov (United States)

    Gozzi, T; Flück, Ce; L'allemand, D; Dattani, M T; Hindmarsh, P C; Mullis, P E

    2010-04-01

    An impressive discrepancy between reported and measured parental height is often observed. The aims of this study were: (a) to assess whether there is a significant difference between the reported and measured parental height; (b) to focus on the reported and, thereafter, measured height of the partner; (c) to analyse its impact on the calculated target height range. A total of 1542 individual parents were enrolled. The parents were subdivided into three groups: normal height (3-97th Centile), short (97%) stature. Overall, compared with men, women were far better in estimating their own height (p Women of normal stature underestimated the short partner and overestimated the tall partner, whereas male partners of normal stature overestimated both their short as well as tall partners. Women of tall stature estimated the heights of their short partners correctly, whereas heights of normal statured men were underestimated. On the other hand, tall men overestimated the heights of their female partners who are of normal and short stature. Furthermore, women of short stature estimated the partners of normal stature adequately, and the heights of their tall partners were overestimated. Interestingly, the short men significantly underestimated the normal, but overestimated tall female partners. Only measured heights should be used to perform accurate evaluations of height, particularly when diagnostic tests or treatment interventions are contemplated. For clinical trails, we suggest that only quality measured parental heights are acceptable, as the errors incurred in estimates may enhance/conceal true treatment effects.

  10. Examining the candidacy of ghrelin as a gene responsible for variation in adult stature in a United Kingdom population with type 2 diabetes.

    Science.gov (United States)

    Gueorguiev, Maria; Wiltshire, Steven; Garcia, Edwin A; Mein, Charles; Lecoeur, Cecile; Kristen, Brigitte; Allotey, Rebecca; Hattersley, Andrew T; Walker, Mark; O'rahilly, Stephen; Froguel, Philippe; Grossman, Ashley B; McCarthy, Mark I; Hitman, Graham A; Korbonits, Márta

    2007-06-01

    Recently, a quantitative trait locus for stature was reported on chromosome 3p26 in patients with type 2 diabetes. Given that ghrelin is a peptide involved in GH release and located on 3p26, we hypothesized that variation within its gene (GHRL) may be responsible for the quantitative trait locus on 3p26. The evidence for linkage around GHRL was refined with the genotyping of an additional four microsatellites (D3S4545, D3S1537, D3S1597, and D3S3611), giving a total of 27 markers, followed by multipoint variance components linkage analysis. Probands from the linkage families were typed for five common single nucleotide polymorphisms (SNPs) within GHRL and tested for association with adult stature using haplotype trend regression. The maximum multipoint evidence for linkage between adult stature and the 27 microsatellites yielded an LOD score of 2.58 (P = 0.0003) between D3S1297 and D3S1304. Five common (frequency of > or =5%) SNPs were typed in the probands [two promoter SNPs (rs27647 and rs26802), two exonic (rs696217 and rs4684677), and one intronic (rs35683)] capturing 80% of the total common variation in GHRL. No association was found between any SNP (or haplotypes thereof) and adult stature. Common genetic variation within GHRL is not responsible for variation in adult stature in this population.

  11. Epidemiology of SHOX deficiency.

    Science.gov (United States)

    Nicolosi, A; Caruso-Nicoletti, M

    2010-06-01

    Deletion of short stature homeobox-containing (SHOX) gene, in the pseudoautosomal region (PAR1) of X and Y chromosomes, is an important cause of short stature. Homozygous loss of SHOX results in the more severe Langer mesomelic dysplasia, while SHOX haploinsufficiency cause a wide spectrum of short stature phenotypes, including patients with Turner syndrome, Leri Weill dyschondrosteosis (LWD), and idiopathic short stature (ISS). In Turner syndrome, haploinsufficiency of SHOX gene, as well as short stature, are present in 100%; nevertheless, SHOX deficiency accounts for only two-thirds of Turner patients' short stature. In LWD the prevalence of SHOX gene anomalies varies from 56% to 100%. This wide range might be due to different factors such as selection criteria of patients, sample size, and method used for screening SHOX mutations. The real challenge is to establish the prevalence of SHOX deficiency in ISS children given that published studies have reported this association with a very broad frequency range varying from 1.5% to 15%. An important variable in these studies is represented by the method used for screening SHOX mutations and sometimes by differences in patient selection. Short stature is present by definition in 3 out of 100 subjects; if we consider a frequency of SHOX defects of 3% among ISS, we should expect a population prevalence of 1 in 1000. This prevalence would be higher than that of GH deficiency (1:3,500) and of Turner syndrome (1:2,500 females), suggesting that SHOX deficiency could be one of the most frequent monogenetic causes of short stature.

  12. Physical stature of Jewish Dutchmen: an overview of three cases from the nineteenth century

    NARCIS (Netherlands)

    Tassenaar, Vincent

    2013-01-01

    I investigated the changes in stature of Jewish and Non-Jewish conscripts in Amsterdam (northern Holland) and Groningen (Groningen) during the second half of the nineteenth century. In the middle of the nineteenth century the position of the Jewish population was rather weak from an economic

  13. From Mxit to Dr Math

    CSIR Research Space (South Africa)

    Botha, Adèle

    2013-02-01

    Full Text Available In 2007, Laurie Butgereit, a researcher at the CSIR Meraka Institute, started to use Mxit as a communication channel to tutor her son in mathematics. Her son and a number of his friends logged in, and Dr Math was born. At the inception of Dr Math...

  14. Pathogenesis of human diffusely adhering Escherichia coli expressing Afa/Dr adhesins (Afa/Dr DAEC): current insights and future challenges.

    Science.gov (United States)

    Servin, Alain L

    2014-10-01

    The pathogenicity and clinical pertinence of diffusely adhering Escherichia coli expressing the Afa/Dr adhesins (Afa/Dr DAEC) in urinary tract infections (UTIs) and pregnancy complications are well established. In contrast, the implication of intestinal Afa/Dr DAEC in diarrhea is still under debate. These strains are age dependently involved in diarrhea in children, are apparently not involved in diarrhea in adults, and can also be asymptomatic intestinal microbiota strains in children and adult. This comprehensive review analyzes the epidemiology and diagnosis and highlights recent progress which has improved the understanding of Afa/Dr DAEC pathogenesis. Here, I summarize the roles of Afa/Dr DAEC virulence factors, including Afa/Dr adhesins, flagella, Sat toxin, and pks island products, in the development of specific mechanisms of pathogenicity. In intestinal epithelial polarized cells, the Afa/Dr adhesins trigger cell membrane receptor clustering and activation of the linked cell signaling pathways, promote structural and functional cell lesions and injuries in intestinal barrier, induce proinflammatory responses, create angiogenesis, instigate epithelial-mesenchymal transition-like events, and lead to pks-dependent DNA damage. UTI-associated Afa/Dr DAEC strains, following adhesin-membrane receptor cell interactions and activation of associated lipid raft-dependent cell signaling pathways, internalize in a microtubule-dependent manner within urinary tract epithelial cells, develop a particular intracellular lifestyle, and trigger a toxin-dependent cell detachment. In response to Afa/Dr DAEC infection, the host epithelial cells generate antibacterial defense responses. Finally, I discuss a hypothetical role of intestinal Afa/Dr DAEC strains that can act as "silent pathogens" with the capacity to emerge as "pathobionts" for the development of inflammatory bowel disease and intestinal carcinogenesis. Copyright © 2014, American Society for Microbiology. All Rights

  15. In Memoriam: Dr. Frank John Fenner

    Centers for Disease Control (CDC) Podcasts

    2011-04-22

    This podcast reflects on one of the greatest pioneers in virology, Dr. Frank John Fenner. Dr. Frederick Murphy, a member of EID's editorial board and the Institute of Medicine, and professor of Pathology at the University of Texas Medical Branch in Galveston, shares professional and personal stories of Dr. Frank Fenner.  Created: 4/22/2011 by National Center for Emerging Zoonotic and Infectious Diseases (NCEZID).   Date Released: 4/26/2011.

  16. Dr. von Braun Briefing Walt Disney

    Science.gov (United States)

    1965-01-01

    Dr. von Braun began his association with Walt Disney in the 1950s when the rocket scientist appeared in three Disney television productions related to the exploration of space. Years later, Dr. von Braun invited Disney and his associates to tour the Marshall Space Flight Center (MSFC) in Huntsville, Alabama. This photograph is dated April 13, 1965. From left are R.J. Schwinghamer from the MSFC, Disney, B.J. Bernight, and Dr. von Braun.

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

    DEFF Research Database (Denmark)

    Joshi, Peter K; Esko, Tonu; Mattsson, Hannele

    2015-01-01

    is predicted for traits under directional evolutionary selection, this study provides evidence that increased stature and cognitive function have been positively selected in human evolution, whereas many important risk factors for late-onset complex diseases may not have been....... confounding, directly contributes to phenotypic variance. Contrary to earlier reports in substantially smaller samples, no evidence was seen of an influence of genome-wide homozygosity on blood pressure and low density lipoprotein cholesterol, or ten other cardio-metabolic traits. Since directional dominance...

  18. Changes in body mass, stature and BMI in South African elite U18 Rugby players from different racial groups from 2002-2012.

    Science.gov (United States)

    Durandt, Justin; Green, Mervin; Masimla, Herman; Lambert, Mike

    2018-03-01

    The purpose of this study was to determine whether there are differences between racial groups for body mass, stature and body mass index (BMI) in South African elite U18 rugby players and whether there were significant changes in these measurements between 2002 and 2012. Self-reported body mass and stature were obtained from U18 players (n = 4007) who attended the national tournament during this period. BMI was calculated for each player.White players were 9.8 kg heavier than black players, who were 2.3 kg heavier than coloured players (P body mass of all groups increased from 2002 to 2012 (P body mass, stature and BMI of elite under-18 rugby players in South Africa were significantly different between racial groups. This has implications for transforming the game to make it representative of the South African population.

  19. Modulation of TRAIL resistance in colon carcinoma cells : Different contributions of DR4 and DR5

    NARCIS (Netherlands)

    van Geelen, Caroline M. M.; Pennarun, Bodvael; Le, Phuong T. K.; de Vries, Elisabeth G. E.; de Jong, Steven

    2011-01-01

    Background: rhTRAIL is a therapeutic agent, derived from the TRAIL cytokine, which induces apoptosis in cancer cells by activating the membrane death receptors 4 and 5 (DR4 and DR5). Here, we investigated each receptor's contribution to rhTRAIL sensitivity and rhTRAIL resistance. We assessed whether

  20. Analysis of DR4 haplotypes in insulin dependent diabetes (IDD)

    International Nuclear Information System (INIS)

    Monos, D.S.; Radka, S.F.; Zmijewski, C.M.; Kamoun, M.

    1986-01-01

    Population studies indicate that HLA-DR4 is implicated in the susceptibility of IDD. However, biochemical characterization of the serologically defined DR4 haplotype from normal individuals revealed five DR4 and three DQW3 molecular forms. Hence, in this study, they investigated the heterogeneity of the DR4 haplotype, using B-lymphoblastoid cell lines (B-LCL) generated from patients with IDD and seropositive for DR4. Class II molecules, metabolically labeled with 35 S-methionine, were immunoprecipitated with monoclonal antibodies specific for DR(L243), DQ(N297), DQW3(IVD12) or DR and DQ(SG465) and analyzed by two-dimensional polyacrylamide gel electrophoresis (2D-PAGE). The isoelectrofocusing (IEF) conditions employed in this study allow representation only of the DR4 haplotype from either DR3/4 or DR4/4 cell lines. The analysis of six different DR4 haplotypes from seven IDD patients, revealed the presence of two DR4 β and two DQW3 β chains. Three of the six DR4 β haplotypes analyzed shared the same DR4 β chain and three others shared a different one. Additionally five of the six haplotypes shared a different one. Additionally five of the six haplotypes shared the same DQW3 β chain and only one was carrying a different one. Different combinations of the two DR4 and two DQW3 β chains constitute three distinct patterns of DR4 haplotypes. These results suggest the prevalence of a DQW3 β chain in the small sample of IDD patients studied. Studies of a large number of patients should clarify whether IDD is associated with unique variants of DR4 or DQW3 β chains

  1. Dr. von Braun and Dr. Stuhlinger With a Model of the Nuclear-Electric Vehicles

    Science.gov (United States)

    2004-01-01

    In this photo, taken at the Walt Disney Studios in California, Dr. Wernher von Braun and Dr. Ernst Stuhlinger are shown discussing the concepts of nuclear-electric spaceships designed to undertake the mission to the planet Mars. As a part of the Disney 'Tomorrowland' series on the exploration of space, the nuclear-electric vehicles were shown in the last three television films, entitled 'Mars and Beyond,' which first aired in December 1957.

  2. Dr. Yu Wang, Director, Natural Science Division, National Science Council, Taiwan

    CERN Document Server

    Patrice Loïez

    2001-01-01

    Photo 01: L. to r.: Dr. Philippe Bloch, CERN CMS ECAL Deputy Project Manager, Dr. Yu Wang, Dr. Etiennette Auffray, CERN, responsible of the CERN ECAL Regional Centre. Photo 02: L. to r.: Dr. Yu Wang, Dr. Philippe Bloch, Dr. Apollo GO, National Central University, Taiwan, Dr. Etiennette Auffray.

  3. Dr. David Syz, State Secretary for Economic Affairs, Switzerland

    CERN Multimedia

    Patrice Loïez

    2003-01-01

    Photo 01: Dr. David Syz (left) with Professor Roger Cashmore, Research Director for Collider Programmes.Photo 02: Dr. David Syz signing the VIP visitors' book, with Prof. Roger Cashmore.Photo 03: Dr. David Syz signing the VIP visitors' book.Photo 04: Handshake between Dr. David Syz (left) and Prof. Roger Cashmore.

  4. An Interview with Dr. Walter Lear

    Directory of Open Access Journals (Sweden)

    The Editors

    2009-03-01

    Full Text Available In this issue of the English version of Social Medicine we are publishing the first of several pamphlets loaned to us by the US Health Activism History Collection. To introduce this collection we travelled to Philadelphia on June 18, 2008 to interview Dr. Walter J. Lear. Dr Lear, born in 1923, is the person responsible for the collection. In a wide-ranging interview in his home Dr. Lear discussed his personal background, the origins and purpose of the collection, the impact of the McCarthy period on the US health left, as well as his vision for the future.

  5. HLA-DR expression and disease activity in ulcerative colitis

    DEFF Research Database (Denmark)

    Poulsen, L O; Elling, P; Sørensen, Flemming Brandt

    1986-01-01

    In 12 patients with active ulcerative colitis (UC) the rectal epithelial cells were analyzed for HLA-DR antigens by an immunohistochemical technique. The clinical, rectoscopic, and histologic stages were also determined. The investigations were carried out at the beginning of the study and 2 weeks...... and 3 months later. The rectal epithelial cells were HLA-DR-positive in all patients at the first two examinations. After 3 months five patients had changed to an HLA-DR-negative stage, whereas the other seven patients remained HLA-DR-positive. Closer analyses showed that expression/nonexpression of HLA-DR...... antigens on rectal epithelial cells of patients with UC could not be predicted from the clinical, rectoscopic, or histologic findings. HLA-DR expression is normally restricted to immunocompetent cells. The presence of HLA-DR antigens on epithelial cells may be a consequence of immunological reactions...

  6. HLA Dr beta 1 alleles in Pakistani patients with rheumatoid arthritis

    International Nuclear Information System (INIS)

    Naqi, N.; Ahmed, T.A.; Bashir, M.M.

    2011-01-01

    Objective: To determine frequencies of HLA DR beta 1 alleles in rheumatoid arthritis in Pakistani patients. Study Design: Cross sectional / analytical study. Place and Duration of Study: Department of Immunology, Armed Forces Institute of Pathology, Rawalpindi in collaboration with Rheumatology departments of Military Hospital, Rawalpindi and Fauji Foundation Hospital, Rawalpindi, from January 2009 to January 2010. Methodology: HLA DR beta 1 genotyping of one hundred Pakistani patients, diagnosed as having RA as per American College of Rheumatology revised criteria 1987, was done. HLA DR beta 1 genotyping was carried out at allele group level (DR beta 1*01-DR beta 1*16) by sequence specific primers in RA patients. Comparison of HLA DR beta 1 allele frequencies between patients and control groups was made using Pearson's chi-square test to find possible association of HLA DR?1 alleles with RA in Pakistani rheumatoid patients. Results: HLA DR beta 1*04 was expressed with significantly increased frequency in patients with rheumatoid arthritis (p <0.05). HLA DR?1*11 was expressed statistically significantly more in control group as compared to rheumatoid patients indicating a possible protective effect. There was no statistically significant difference observed in frequencies of HLA DR beta 1 allele *01, DR beta 1 allele *03, DR beta 1 allele *07, DR beta 1 allele *08, DR beta 1 allele *09, DR beta 1 allele *10, DR beta 1 allele *12, DR beta 1 allele *13, DR beta 1 allele *14, DR?1 allele *15 and DR beta 1 allele *16 between patients and control groups. Conclusion: The identification of susceptible HLA DR beta 1 alleles in Pakistani RA patients may help physicians to make early decisions regarding initiation of early intensive therapy with disease modifying anti rheumatic medicines and biological agents decreasing disability in RA patients. (author)

  7. FOREWORD: Dr Trevor J Hicks Dr Trevor J Hicks

    Science.gov (United States)

    Goossens, Darren

    2009-03-01

    This issue of Journal of Physics: Condensed Matter has been assembled to recognize the valuable contribution of Dr Trevor J Hicks to the field of neutron scattering and magnetism. Trevor began his study of magnetism as a PhD student at Monash University in Melbourne in the early 1960s, working with Professor Jack Smith. From the very beginning magnetism in alloys, and disordered systems in general, became a key aspect of his career. After a postdoctoral position at Harwell working with Dr Graeme Low Trevor returned to Australia and took up a position with Monash. He soon became a key figure in developing the capability for neutron scattering using the HIFAR reactor at the Australian Atomic Energy Commission, now the Australian Nuclear Science and Technology Organisation, ANSTO. The instrumentation was always developed to further his studies of magnetism. The development of polarization analysis measurements of diffuse magnetic scattering, first using iron filters and then his own design of supermirror benders for beam polarization, took place through the 1970s, 1980s and into the 1990s. Throughout this time, Trevor mentored a series of PhD students and postdoctoral fellows, many of whom have contributed to this issue (and, indeed, guest edited it). As befits a scientist and university academic for whom teaching has always been important, Trevor has not only created a strong body of significant research, he has also made a major contribution to preparing several generations of neutron scattering scientists, and this issue reflects that. When I approached Journal of Physics: Condensed Matter with a proposal for an issue in honour of Trevor, the response was immediate and positive. It is with great pleasure that I present the result of that proposal. The great diversity of the content, all centred on neutron scattering and magnetism, reflects the breadth of Trevor's own career and of the scientists with whom he has interacted. Finally, I would like to make some

  8. Association of differentiated thyroid carcinoma with HLA-DR7

    International Nuclear Information System (INIS)

    Sridama, V.; Hara, Y.; Fauchet, R.; DeGroot, L.J.

    1985-01-01

    Seventy-four American white thyroid cancer patients were typed for HLA-A, B, and DR antigens. A significant increase in HLA-DR7 was found in the nonradiation-associated thyroid cancer patients (42.5%, 20/47 cases), compared to 22.8% of 979 normal controls. The association is stronger in the follicular and mixed papillary-follicular subgroup (52.0%, 13/25 cases, P corrected less than 0.01). The occurrence of various malignancies in family members was found in 57.9% of HLA-DR7 positive patients, versus 20% of HLA-DR7 negative patients, in a retrospective record review. Although the frequency of HLA-DR7 was not increased in the radiation-associated thyroid cancer patients (22.2%, 6/27 cases), the interval from the irradiation date to the onset date of thyroid cancer was shorter in HLA-DR7 positive cases (17.3 +/- 6.2 years) than in HLA-DR7 negative patients (29.4 +/- 11.5 years). This data suggest that HLA-DR7 is associated with and may influence development of thyroid cancer

  9. Dr. Martin Luther King, Jr. as Spiritual Leader

    Directory of Open Access Journals (Sweden)

    Andrea Pierce

    2013-09-01

    Full Text Available The purpose of this paper is to explore Dr. Martin Luther King Jr.’s spiritual leadership through his “I Have a Dream” speech. The paper explores the three characteristics of spiritual leadership as posed by Fry’s (2003 spiritual leadership theory: vision, hope/faith and altruistic love. The research draws upon these characteristics through qualitative content analysis of Dr. Martin Luther King Jr.’s “I Have a Dream” speech to illustrate Dr. King’s leadership as that of a spiritual leader. The research advances the spiritual leadership theory by establishing Dr. Martin Luther King Jr. as a spiritual leader. Through the illustration of Dr. King’s spiritual leadership, the characteristics of a spiritual leader are given tangible understanding.

  10. The DR-2 project

    DEFF Research Database (Denmark)

    Ølgaard, Povl Lebeck

    2003-01-01

    state of the reactor and to determine, which radionuclides remain where in the reactor in what amounts. The first part of the reactor to be investigated was the reactor tank. The lids at the reactor top wereremoved, air samples taken and smear test made in the tank. Then the control rods, the magnet....... At the start of the project the activity in DR-2 was about 45-50 GBq. Now it is about 5-10 GBq. Based on the results of the DR-2 project it is believed that the reactor can readily bedismantled and decommissioned....

  11. Tribute to Dr Jacques Rogge

    DEFF Research Database (Denmark)

    Bourgois, Jan G; Dumortier, Jasmien; Callewaert, Margot

    2017-01-01

    'A tribute to Dr J. Rogge' aims to systematically review muscle activity and muscle fatigue during sustained submaximal quasi-isometric knee extension exercise (hiking) related to Olympic dinghy sailing as a tribute to Dr Rogge's merits in the world of sports. Dr Jacques Rogge is not only...... of invasive needle electromyography (EMG) during a specific sailing technique (hiking) on a self-constructed sailing ergometer. Hiking is a bilateral and multi-joint submaximal quasi-isometric movement which dinghy sailors use to optimize boat speed and to prevent the boat from capsizing. Large stresses...... are generated in the anterior muscles that cross the knee and hip joint, mainly employing the quadriceps at an intensity of 30-40% maximal voluntary contraction (MVC), sometimes exceeding 100% MVC. Better sailing level is partially determined by a lower rate of neuromuscular fatigue during hiking and for ≈60...

  12. Bartter syndrome and growth hormone deficiency: three cases.

    Science.gov (United States)

    Buyukcelik, Mithat; Keskin, Mehmet; Kilic, Beltinge Demircioglu; Kor, Yilmaz; Balat, Ayse

    2012-11-01

    Bartter syndrome is a rare autosomal recessive disorder characterized by hypokalemia, salt loss, and metabolic alkalosis. Short stature is one of the clinical manifestations in these children. Although polyuria, polydipsia, hypokalemia, and salt loss may be responsible for growth retardation, the exact pathogenesis of short stature in Bartter syndrome is not known. In this study, we present three children diagnosed as having Bartter syndrome with short stature and growth hormone (GH) deficiency. After recombinant human growth hormone therapy (rhGH), their growth velocities were improved. These results indicate that GH deficiency may contribute to short stature in children with Bartter syndrome, and rhGH therapy would be an excellent adjunctive treatment for short children with this syndrome whose condition is resistant to conventional therapies in terms of growth.

  13. Human immune responsiveness to Lolium perenne pollen allergen Lol p III (rye III) is associated with HLA-DR3 and DR5.

    Science.gov (United States)

    Ansari, A A; Freidhoff, L R; Meyers, D A; Bias, W B; Marsh, D G

    1989-05-01

    A well-characterized allergen of Lolium perenne (perennial rye grass) pollen, Lol p III, has been used as a model antigen to study the genetic control of the human immune response. Associations between HLA type and IgE or IgG antibody (Ab) responsiveness to Lol p III were studied in two groups of skin-test-positive Caucasoid adults (N = 135 and 67). We found by nonparametric and parametric analyses that immune responsiveness to Lol p III was significantly associated with HLA-DR3 and DR5. No association was found between any DQ type and immune responsiveness to Lol p III. Geometric mean IgE or IgG Ab levels to Lol p III were not different between B8+, DR3+ subjects and B8-, DR3+ subjects, showing that HLA-B8 had no influence on the association. Lol p III IgG Ab data obtained on subjects after grass antigen immunotherapy showed that 100% of DR3 subjects and 100% of DR5 subjects were Ab+. A comparison of all the available protein sequences of DRB gene products showed that the first hypervariable region of DR3 and DR5 (and DRw6), and no other region, contains the sequence Glu9-Tyr-Ser-Thr-Ser13. Our observations are consistent with the possibility that immune responsiveness to the allergen Lol p III is associated with this amino acid sequence in the first hypervariable region of the DR beta 1 polypeptide chain.

  14. Growth hormone for short children--whom should we be treating and why?

    Science.gov (United States)

    Kelnar, C J

    2012-03-01

    The objective of this paper was to determine systematically the impact of growth hormone (GH)therapy on adult height of children with (so-called) 'idiopathic short stature' (ISS) using the Cochrane Central Register of Controlled Trials, Medline, and the bibliographic references from retrieved articles of randomised controlled trials (RCTs) and non-RCTs from 1985 to April 2010. Inclusion criteria were initial short stature (defined as height >2 standard deviation[SD] below the mean), peak growth hormone responses>10 micrograms per litre (μg/L), prepuberty, no previous growth hormone therapy, and no comorbid conditions that would impair growth. Data extracted were adult height and overall gain in height from baseline measurement in childhood.Three RCTs (115 children) met the inclusion criteria.The adult height of the GH treated children exceeded that of the controls by 0.65 SD score (~4 cm). The mean height gain in treated children was 1.2 SD score compared with 0.34 SD score in untreated children. A difference of ~1.2 cm in adult height was observed between two GH dose regimens. In the seven non-RCTs, adult height of the GH-treated group exceeded that of controls by 0.45 SD score (~3 cm).The authors conclude that 1) GH therapy in children with ISS seems effective in partially reducing the deficit in height as adults, although less so than in other conditions for which GH is licensed; treated individuals remain relatively short compared with normal height peers. 2)Individual responses to therapy are highly variable; further studies are needed to identify responders. 3) High quality evidence from long-term RCTs of GH therapy that continue until adult height is necessary to determine the ideal dosage and long-term safety.

  15. Implementing Python for DrRacket

    OpenAIRE

    Ramos, Pedro Palma; Leitão, António Menezes

    2014-01-01

    The Python programming language is becoming increasingly popular in a variety of areas, most notably among novice programmers. On the other hand, Racket and other Scheme dialects are considered excellent vehicles for introducing Computer Science concepts. This paper presents an implementation of Python for Racket and the DrRacket IDE. This allows Python programmers to use Racket libraries and vice versa, as well as using DrRacket's pedagogic features. In particular, it allows architects and d...

  16. Brahm Prakash, Dr

    Indian Academy of Sciences (India)

    Home; Fellowship. Fellow Profile. Elected: 1972 Section: Engineering & Technology. Brahm Prakash, Dr Ph.D. (Panjab), FNA 1974-76. Date of birth: 21 August 1912. Date of death: 3 January 1984. Specialization: Metallurgy. YouTube; Twitter; Facebook; Blog ...

  17. Dr. David Syz, State Secretary for Economic Affairs, Switzerland

    CERN Multimedia

    Maximilien Brice

    2003-01-01

    Dr. David Syz, State Secretary for Economic Affairs, Switzerland, toured the assembly hall of the ATLAS experiment on a recent visit to CERN.Photos 01, 02: Dr. Peter Jenni, spokesperson for the ATLAS experiment (second from left), explains to Dr. David Syz (fourth from left) and accompanying visitors the process of integration of a 26-metre-long coil of the barrel toroid magnet system into its coil casing.Photo 03: Dr. Peter Jenni (extreme right) with Dr. David Syz (front row, fourth from right) behind a stack of 26-metre-long 'racetrack' coils awaiting integration into their coil casings.

  18. Valor del pesquisaje de la enfermedad celíaca en niños con baja talla. Métodos serológicos: una opción eficaz Value of celiac disease screening in children with short stature. Serological methods: an efficient option

    Directory of Open Access Journals (Sweden)

    Tania Espinosa Reyes

    2007-12-01

    Full Text Available El estudio sistemático de los niños con retraso del crecimiento constituye un pilar clave en el quehacer del endocrinólogo pediatra. Múltiples han sido las causas identificadas para la baja estatura a lo largo de los años, y a la inmensa lista de enfermedades de origen genético, endocrino, osteomioarticular, cardiovascular, respiratorio y gastrointestinal, por recordar un grupo de ellas, se suma la enfermedad celíaca (EC, y se ha demostrado que es de vital importancia su pesquisa activa en estos pacientes, aunque no existan manifestaciones de tipo gastrointestinales. Programas de screening en la población indican que existe un subregistro de EC, y estudios recientes han permitido confirmar que es mucho más frecuente de lo que se suponía. Aunque la biopsia de yeyuno continúa siendo la regla de oro para su diagnóstico, la búsqueda incesante de métodos menos cruentos ha llegado al desarrollo de métodos serológicos, especialmente la determinación de anticuerpos anti-gliadina y anti-transglutaminasa, este último con un método desarrollado por investigadores nuestros. Con el propósito de analizar algunos estudios realizados con este fin, presentamos la siguiente revisión, lo que ha originado un protocolo de investigación que se llevará a cabo en nuestros pacientes con baja estatura.The systematic study of children with growth retardation is essential in the work of the paediatric endocrinologist. There have been identified multiple causes of short stature along the years, and the celiac disease (CD is added to the immense list of disease of genetic, endocrine, osteomyoarticular, cardiovascular respiratory and gastrointestinal origin, just to remember some of them. It has been proved that the active search of CD in these patients is very important, even when there are no gastrointestinal manifestations. Screening programs carried out in the population show that there is a subregister of CD, and recent studies have allowed to

  19. Hazarika, Dr Nabajit

    Indian Academy of Sciences (India)

    Hazarika, Dr Nabajit Ph.D. (Tezpur). Date of birth: 17 January 1986. Specialization: Remote Sensing, GIS Applications, Fluvial Geomorphology, Landuse Landcover Studies Address: Dept. of Environmental Science, Nagaland University, Lumami 798 627, Nagaland Contact: Residence: 94354 81256, 97066 71256

  20. Prakash, Dr Vishweshwaraiah

    Indian Academy of Sciences (India)

    Prakash, Dr Vishweshwaraiah Ph.D. (Mysore), FNASc, FNAE, FRSC,FNAAS. Date of birth: 23 November 1951. Specialization: S&T Policy, Physical Biochemistry, Chemistry of Macromolecules, Biophysics of Proteins, Enzymes & Thermodynamics, Food Chemistry, Nutrition, Food Biotechnology and Food Science Address: ...

  1. Dikshit, Dr Madhu

    Indian Academy of Sciences (India)

    Home; Fellowship. Fellow Profile. Elected: 2000 Section: Medicine. Dikshit, Dr Madhu Ph.D. (Kanpur), FNASc, FNA Council Service: 2016. Date of birth: 21 November 1957. Specialization: Redox Biology, Cardiovascular Pharmacology, Molecular Pharmacology, Neutrophiles and Nitric Oxide Synthase Address: Department ...

  2. Sethunathan, Dr Nambrattil

    Indian Academy of Sciences (India)

    Fellow Profile. Elected: 1986 Section: Plant Sciences. Sethunathan, Dr Nambrattil Ph.D. (Madras), FNA, FNAAS, FNASc. Date of birth: 2 June 1937. Specialization: Environmental Microbiology Address: Flat No. 103, Ushodaya Apartments, Sri Venkateswara Officers' Colony, Ramakrishnapuram, Secunderabad 500 056, A.P.

  3. Mukerji, Dr Mitali

    Indian Academy of Sciences (India)

    Elected: 2014 Section: Medicine. Mukerji, Dr Mitali Ph.D. (IISc). Date of birth: 13 November 1967. Specialization: Functional Genomics, Population Genomics, Ayurgenomics Address: Sr Principal Scientist, Genomics & Molecualr Medicine, Institute of Genomics & Integrative Biology, Sukhdev Vihar, Mathura Road, New Delhi ...

  4. Dr. Hans Chang, Director, Physics Research Committee, Stichting voor Fundamenteel Onderzoek der Materie (FOM), Dr. Joris Van Enst, Head of Science Policy Division, Ministry of Education, Culture and S cience, Dr. Jan Bezemer, NL Delegate CERN, Netherlands

    CERN Multimedia

    Patrice Loiez

    1999-01-01

    Dr. Hans Chang, Director, Physics Research Committee, Stichting voor Fundamenteel Onderzoek der Materie (FOM), Dr. Joris Van Enst, Head of Science Policy Division, Ministry of Education, Culture and S cience, Dr. Jan Bezemer, NL Delegate CERN, Netherlands

  5. Mukhopadhyay, Dr Sangita

    Indian Academy of Sciences (India)

    Elected: 2013 Section: Medicine. Mukhopadhyay, Dr Sangita Ph.D. (Utkal), FNASc. Date of birth: 1 January 1966. Specialization: Immunology, Cell Signalling, Communicable Diseases Address: Group Leader, Molecular Cell Biology, Centre for DNA Fingerprinting & Diagnostics, Nampally, Hyderabad 500 001, A.P.. Contact ...

  6. Mohanty, Dr Debasisa

    Indian Academy of Sciences (India)

    Home; Fellowship. Fellow Profile. Elected: 2012 Section: General Biology. Mohanty, Dr Debasisa Ph.D. (IISc), FNASc, FNA. Date of birth: 30 November 1966. Specialization: Bioinformatics, Computational & Structural Biology, Biophysics Address: National Institute of Immunology, Aruna Asaf Ali Marg, New Delhi 110 067, ...

  7. Banerjee, Dr Srikumar

    Indian Academy of Sciences (India)

    Fellow Profile. Elected: 1990 Section: Engineering & Technology. Banerjee, Dr Srikumar Ph.D. (IIT, Kharagpur), FNA, FNAE, FNASc, FTWAS Council Service: 2007-12; Vice-President: 2010-12. Date of birth: 25 April 1946. Specialization: Materials Science, Physical Metallurgy, Phase Transformations, Nuclear Fuel Cycle, ...

  8. Authikesavalu, Dr Munisamy

    Indian Academy of Sciences (India)

    Home; Fellowship. Fellow Profile. Elected: 1948 Section: Medicine. Authikesavalu, Dr Munisamy MBBS (Madras), MS (Minneapolis), FRCS. Date of birth: 16 August 1906. Date of death: 22 September 1973. Specialization: Experimental Surgery, Ophthalmology, Otolaryngology Last known address: 5-C, Lavelle Cross Road, ...

  9. Santhanam, Dr Vaidyanathaswamy

    Indian Academy of Sciences (India)

    Elected: 1974 Section: Plant Sciences. Santhanam, Dr Vaidyanathaswamy Ph.D. (Madras). Date of birth: 31 July 1925. Specialization: Plant Breeding & Genetics, Research Management and Cotton Development Address: 'Shri Abhirami', 107, Venkataswamy Road West, R S Puram Post, Coimbatore 641 002, T.N.. Contact:

  10. Amarjit Singh, Dr

    Indian Academy of Sciences (India)

    Home; Fellowship. Fellow Profile. Elected: 1974 Section: Engineering & Technology. Amarjit Singh, Dr Ph.D. (Harvard). Date of birth: 19 November 1924. Specialization: Millimeter Wave Tubes, Microwave Tubes and Microwave Electronics Address: 12, Auburn Court, Vernon Hills, IL 60061, USA Contact: Residence: ...

  11. Chandy, Dr Mammen

    Indian Academy of Sciences (India)

    Home; Fellowship. Fellow Profile. Elected: 2008 Section: Medicine. Chandy, Dr Mammen MD (Madras), FRACP, FRCPA. Date of birth: 30 August 1949. Specialization: Hematology, Bone Marrow Transplantation and Molecular Genetics of Blood Diseases Address: Director, Tata Memorial Centre, 14, Major Arterial Road, ...

  12. Shivaji, Dr Sisinthy

    Indian Academy of Sciences (India)

    Home; Fellowship. Fellow Profile. Elected: 2011 Section: Animal Sciences. Shivaji, Dr Sisinthy Ph.D. (Delhi), FNASc. Date of birth: 17 June 1950. Specialization: Anti-Microbial Resistance, Gut Microbiome, Eye Disease, Conservation Biology, Mammalian Sperm Function, Bacterial Biodiversity of Cold Habitats, Cold ...

  13. Potensi dan Efektivitas Pemungutan Retribusi RSUD Dr. Agoesdjam Ketapang

    OpenAIRE

    B61110063, JAMALUDIN

    2014-01-01

    This study entitled Potential and Effectiveness of retribution collecting in RSUD Dr. Agoesdjam Ketapang which aims to identify and analyze the potential retribution of RSUD Dr . Agoesdjam and also to investigate and analyze the effectiveness of the retribution collecting in RSUD Dr. Agoesdjam . This study uses secondary data , from 2008 to 2012 that were obtained from the Regional Revenue Office of Ketapang and RSUD Dr. Agoesdjam Ketapang . The method of this study is descriptive. To analyz...

  14. Dr. Irene Sänger-Bredt, a life for astronautics

    Science.gov (United States)

    Zaganescu, Nicolae-Florin

    2004-12-01

    Irene Bredt (b.1911 at Bonn) obtained her Doctorate in Physics in 1937; in the same year she became a scientific researcher at the German Research Center for Aviation at Trauen, led by Prof. Dr. Eugen Sänger. Soon, the young but efficient Dr. Irene Bredt became the first assistant of Dr. Sänger, who married her (1951). During 1973-1978, Dr. Bredt was in correspondence with Prof. Dr. Nikolae-Florin Zaganescu and helped him to familiarize the Romanian readers with Prof. Sänger's life and achievements. As for Dr. Bredt's life, she specified three main periods of her activity: 1937-1942, when she was researcher in charge of thermodynamic problems of liquid-fuelled rocket engines at Trauen 1942-1945, when she was Senior Researcher in charge of Ramjet in flight performances at Ainring, and also coauthored the Top Secret Technical report entitled 'A Rocket Engine for a Long-Range Bomber', which was finished in 1941 but edited only in 1944 the post world war II period, when she was Scientific Advisor or Director at various civil and military research institutes, universities, etc. Dr. Irene Sänger-Bredt helped her husband to develop many scientific theories like Ramjet thermodynamic theory, and photon rocket theory and also in establishing IAF and IAA. In 1970, Dr. Irene Sänger-Bredt was honored with 'Hermann Oberth Gold Medal' for her impressive scientific activity.

  15. Surname-inferred Andean ancestry is associated with child stature and limb lengths at high altitude in Peru, but not at sea level.

    Science.gov (United States)

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

    2015-01-01

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

  16. Professor Bakytzhan Abdiraiym Rector of the L. Gumilov Eurasian National University, Astana, Kazakhstan accompanied by Prof. Kairat Kuterbekov, Dr Bekzat Prmantayeva, Dr Kuralay Maksut with the Director-General, Dr Tadeusz Kurtyka, Adviser for Non-Member States, Mrs Julia Andreeva, Department of Information Technologies and Dr Nikolai Zimine, ATLAS Collaboration, Joint Institute for Nuclear Research, Dubna

    CERN Document Server

    Maximilien Brice

    2011-01-01

    Professor Bakytzhan Abdiraiym Rector of the L. Gumilov Eurasian National University, Astana, Kazakhstan accompanied by Prof. Kairat Kuterbekov, Dr Bekzat Prmantayeva, Dr Kuralay Maksut with the Director-General, Dr Tadeusz Kurtyka, Adviser for Non-Member States, Mrs Julia Andreeva, Department of Information Technologies and Dr Nikolai Zimine, ATLAS Collaboration, Joint Institute for Nuclear Research, Dubna

  17. Chaddah, Dr Praveen

    Indian Academy of Sciences (India)

    Home; Fellowship. Fellow Profile. Elected: 1993 Section: Physics. Chaddah, Dr Praveen Ph.D. (Mumbai), FNA, FNASc. Date of birth: 20 December 1951. Specialization: Superconductivity, Low Temperature Physics and Phase Transitions Address: Flat 702, Block 24, Heritage City, MG Road (near Metro Station), Gurgaon ...

  18. Ranganathan, Dr Darshan

    Indian Academy of Sciences (India)

    Elected: 1991 Section: Chemistry. Ranganathan, Dr Darshan Ph.D. (Delhi), FNA. Date of birth: 4 June 1941. Date of death: 4 June 2001. Specialization: Organic Chemistry, Bio-Organic Chemistry and Supramolecular Chemistry Last known address: Scientist, Indian Institue of Chemical, Technology, Uppal Road, Hyderabad ...

  19. Scaling of human body composition to stature: new insights into body mass index 123

    Science.gov (United States)

    Heymsfield, Steven B; Gallagher, Dympna; Mayer, Laurel; Beetsch, Joel; Pietrobelli, Angelo

    2009-01-01

    Background Although Quetelet first reported in 1835 that adult weight scales to the square of stature, limited or no information is available on how anatomical body compartments, including adipose tissue (AT), scale to height. Objective We examined the critical underlying assumptions of adiposity–body mass index (BMI) relations and extended these analyses to major anatomical compartments: skeletal muscle (SM), bone, residual mass, weight (AT+SM+bone), AT-free mass, and organs (liver, brain). Design This was a cross-sectional analysis of 2 body-composition databases: one including magnetic resonance imaging and dual-energy X-ray absorptiometry (DXA) estimates of evaluated components in adults (total n = 411; organs = 76) and the other a larger DXA database (n = 1346) that included related estimates of fat, fat-free mass, and bone mineral mass. Results Weight, primary lean components (SM, residual mass, AT-free mass, and fat-free mass), and liver scaled to height with powers of ≈2 (all P 2 (2.31–2.48), and the fraction of weight as bone mineral mass was significantly (P short and tall subjects with equivalent BMIs have similar but not identical body composition, provide new insights into earlier BMI-related observations and thus establish a foundation for height-normalized indexes, and create an analytic framework for future studies. PMID:17616766

  20. Genetics Home Reference: Nicolaides-Baraitser syndrome

    Science.gov (United States)

    ... common are sparse scalp hair, small head size ( microcephaly ), distinct facial features, short stature, prominent finger joints, ... individuals grow slowly, resulting in short stature and microcephaly. Sometimes, growth before birth is unusually slow. The ...

  1. Description of Work for Borehole Sampling at the 116-DR-1and 116-DR-2 Trenches

    International Nuclear Information System (INIS)

    Bergstrom, K. A.

    1999-01-01

    This description of work (DOW) details the sampling and analysis activities for characterizing the deep zone soils below the 116-DR-1and 116-DR-2 trenches, which are located in the 100-DR- 1 Operable Unit (OU), and will serve as a guide for the personnel performing the work. The ''deep zone'' refers to the portion of the vadose zone between the bottom of the waste site and the water table. The scope of work includes drilling a borehole (B8786), sampling vadose zone and upper saturated zone soils at ∼ 1-m intervals, collecting a water sample below the top of the water table, and analyzing the samples for all contaminants of concern (COCs). Specific procedures for defined tasks are covered under the Bechtel Hanford, Inc. (BHI)manual, BHI-EE-01, Environmental Investigations Procedures

  2. Goldie Brangman Remembers the Operation to Save Dr King.

    Science.gov (United States)

    Koch, Evan; Brangman, Goldie

    2015-12-01

    In September 1958 the Rev Dr Martin Luther King Jr was stabbed and nearly assassinated. Surgeons at Harlem Hospital in New York City removed a 17.8-cm (7-in)-long letter opener from Dr King's chest. Certified Registered Nurse Anesthetist Goldie Brangman remembers this event because she participated in Dr King's anesthetic. This article correlates Brangman's memories with published accounts of the event. It also places the event within the context of the modern civil rights movement that Dr King led.

  3. Dr. Steve Thompson, Chief Executive, The Royal Society of New Zealand

    CERN Multimedia

    Maximilien Brice

    2002-01-01

    L. to r.: Dr Austin Ball, Deputy Technical Coordinator, CMS experiment; Dr Roland Horisberger, Paul Scherrer Institute and CERN, CMS experiment; Dr Steve Thompson, Chief Executive, The Royal Society of New Zealand; Dr Michel Della Negra, Spokesman, CMS experiment and Dr Alick Macpherson, Paul Scherrer Institute and CERN, CMS experiment, in the CMS Silicon Tracker assembly hall.

  4. Bhandari, Dr Nita

    Indian Academy of Sciences (India)

    Elected: 2015 Section: Medicine. Bhandari, Dr Nita Ph.D. (JNU), FAMS. Date of birth: 9 November 1955. Specialization: Nutrition-Infection Interaction, Child Health, Nutritional Interventions, Clinical Evaluation of Vaccine Address: President & Director, Centre for Health R&D Society for Applied Studies, 45, Kalu Sarai, New ...

  5. Chandrasekaran, Dr Chidambara

    Indian Academy of Sciences (India)

    Fellow Profile. Elected: 1945 Section: Mathematical Sciences. Chandrasekaran, Dr Chidambara Ph.D. (London) 1962-64. Date of birth: 30 October 1911. Date of death: 4 January 2000. Specialization: Statistics, Public Health and Demography Last known address: 'Sri Kripa', 79/3, Benson Cross Road, Bengaluru 560 046.

  6. Mukhopadhyay, Dr Amitabha

    Indian Academy of Sciences (India)

    Fellow Profile. Elected: 2010 Section: General Biology. Mukhopadhyay, Dr Amitabha Ph.D. (Jadavpur), FNASc, FNA. Date of birth: 5 February 1959. Specialization: Cell Biology, Host-Pathogen Interactions, Drug Delivery Address: Staff Scientist VII, National Institute of Immunology, Aruna Asaf Ali Marg, New Delhi 110 067, ...

  7. Chandy, Dr Jacob

    Indian Academy of Sciences (India)

    Elected: 1961 Section: Medicine. Chandy, Dr Jacob MBBS (Madras), FRCS (c) Council Service: 1962-70. Date of birth: 23 January 1910. Date of death: 23 June 2007. Specialization: Neurology, Neurosurgery and Medical Education Last known address: Paarra, Matteethra, Kottayam 686 004. YouTube; Twitter; Facebook ...

  8. Adhya, Dr Samit

    Indian Academy of Sciences (India)

    Elected: 1999 Section: General Biology. Adhya, Dr Samit Ph.D. (New York), FNA. Date of birth: 29 September 1953. Specialization: Mitochondrial Biology, Molecular Genetics of Parasites, Intracellular RNA Trafficking and DNA Diagnostics Address: CSIR Emeritus Scientist, Indian Inst. of Chemical Biology, 4, Raja S.C. ...

  9. HLA-DR expression and disease activity in ulcerative colitis

    DEFF Research Database (Denmark)

    Poulsen, L O; Elling, P; Sørensen, Flemming Brandt

    1986-01-01

    and 3 months later. The rectal epithelial cells were HLA-DR-positive in all patients at the first two examinations. After 3 months five patients had changed to an HLA-DR-negative stage, whereas the other seven patients remained HLA-DR-positive. Closer analyses showed that expression/nonexpression of HLA...

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

    Science.gov (United States)

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

    2016-01-01

    Prolonged cis-retinoic acid (RA) exposure contributes to premature epiphyseal closure. cis-RA is administered in various treatment regimens for pediatric cancers, thus increasing the risk for bone deformities and compromised growth. We present a case of premature epiphyseal closure in a 9-year-old female with a history of medulloblastoma and treatment with a multimodal regimen including cis-RA. She was subsequently diagnosed with radiation-induced endocrine late effects including hypothyroidism and growth hormone deficiency (GHD). Seven months after initiation of GH therapy, an increased prominence of the wrists and knees combined with a deceleration in growth velocity prompted further evaluation; radiographs revealed bilateral premature closure of the distal femur and proximal tibia growth plates despite normal left wrist bone age. High doses of vitamin A and its analogs are linked to premature closure of the lower-extremity growth plates in animals and children. Pediatric brain tumor patients are at increased risk of growth failure due to concurrent radiation-induced GHD, damage to the spinal bones, and cis-RA-associated premature closure of the lower-extremity growth plates, with significant reduction in adult stature. A better appreciation of the detrimental effect of cis-RA on the growing skeleton is needed to monitor at-risk patients and to provide timely interventions. © 2015 S. Karger AG, Basel.

  11. HLA-DR-expressing cells and T-lymphocytes in sural nerve biopsies

    DEFF Research Database (Denmark)

    Schrøder, H D; Olsson, T; Solders, G

    1988-01-01

    was confirmed. HLA-DR expression was found in all biopsies and thus was not restricted to any particular type of neuropathy. The HLA-DR expression appeared to correlate with severity and activity of the neuropathy. HLA-DR-expressing macrophages wrapping myelinated fibers were prominent in primary demyelinating......Thirty-five sural nerve biopsies were stained immunohistochemically for HLA-DR antigen. HLA-DR was expressed on nonmyelinating Schwann cells, macrophages, vascular endothelium, and perineurium. By means of double immunofluorescence staining the identity of the HLA-DR presenting structures...

  12. A Tribute to Prof Dr Da Ruan

    CERN Document Server

    Kerre, Etienne

    2013-01-01

    This volume is a tribute to Professor Dr Da Ruan, who passed away suddenly on July 31, 2011, aged 50. The flood of emails that spread throughout the fuzzy logic research community with the tragic news was testimony to the respect and liking felt for this remarkable man. Da was a hardworking , highly productive scientist who, during his short life, published 35 books and more than 250 research papers in highly ranked journals and conference proceedings. He established two successful conferences, FLINS and ISKE, as well as the international journal, JCIS. This book is a collection of contributions from 88 of Da's academic friends from 47 institutes, presented in 60 chapters and over 70 pictures. A Foreword by Lotfi Zadeh begins Da's story. Section 1 provides an overview of Da's funeral on August 6, 2011. Part II outlines Da’s scientific life, his education, scientific career, publications and keynote talks. Part III presents testimonials by Da's colleagues of academic activities, including guest professorship...

  13. Varadarajan, Dr Srinivasan

    Indian Academy of Sciences (India)

    Elected: 1972 Section: Chemistry. Varadarajan, Dr Srinivasan Ph.D. (Delhi and Cantab), D.Sc. (h.c.), D.Litt. (h.c.), FNA, FNAE, FTWAS Council Service:1974-88; Vice-President: 1977-79; President: 1980-82. Date of birth: 31 March 1928. Specialization: Organic & Biological Chemistry, Molecular Biology, Engineering Design ...

  14. Sengupta, Dr Sagar

    Indian Academy of Sciences (India)

    Sengupta, Dr Sagar Ph.D. (IISc), FNA, FNASc. Date of birth: 23 June 1968. Specialization: Cancer Biology, Cell Signalling, Mytochondrial Biology Address: National Institute of Immunology, Aruna Asaf Ali Marg, New Delhi 110 067, U.T.. Contact: Office: (011) 2670 3786. Residence: (0124) 422 7107. Mobile: 93131 05470

  15. Sengupta, Dr Sagar

    Indian Academy of Sciences (India)

    Fellow Profile. Elected: 2017 Section: General Biology. Sengupta, Dr Sagar Ph.D. (IISc), FNA, FNASc. Date of birth: 23 June 1968. Specialization: Cancer Biology, Cell Signalling, Mytochondrial Biology Address: National Institute of Immunology, Aruna Asaf Ali Marg, New Delhi 110 067, U.T.. Contact: Office: (011) 2670 3786

  16. Genetic effects of atomic bomb radiation on growth of stature of F1 generation

    International Nuclear Information System (INIS)

    Furusho, Toshiyuki

    1976-01-01

    On the basis of the data on stature of high school students aged from 15 to 17 in Hiroshima Prefecture, exposed group was divided into two groups. One was both-parents exposed group and the other was one-parent only exposed group. Each group was subdivided into 1 rad > exposed group and 1 rad . However, the difference of fourth central moment and correlation showed no definite tendency. Difference of mean was minus in many children of the father exposed and mother non-exposed group, but was plus in the contrary group. In other groups, no definite tendency was found. Regression analysis of exposure dose of parents from mean value of children showed no particular results, including non-exposed group or not. However, minus regression coefficient was more frequently seen on statistically significant level. Estimated value of induced mutation rate of polygene by A-bomb radiation, which effected on stature per generation, site of polygene in co-ordinate and 1 rad, was very low. As it was, however, the estimated value per 1 rad, it seemed to be not necessarily low. Concerning on the induced mutation rate, similar results were obtained in both-parents exposed group and one-parent only exposed group. (Kanao, N.)

  17. DR6 as a diagnostic and predictive biomarker in adult sarcoma.

    Directory of Open Access Journals (Sweden)

    Kun Yang

    Full Text Available The Death Receptor 6 (DR6 protein is elevated in the serum of ovarian cancer patients. We tested DR6 serum protein levels as a diagnostic/predictive biomarker in several epithelial tumors and sarcomas.DR6 gene expression profiles were screened in publically available arrays of solid tumors. A quantitative immunofluorescent western blot analysis was developed to test the serum of healthy controls and patients with sarcoma, uterine carcinosarcoma, bladder, liver, and pancreatic carcinomas. Change in DR6 serum levels was used to assay the ability of DR6 to predict the response to therapy of sarcoma patients.DR6 mRNA is highly expressed in all tumor types assayed. Western blot analysis of serum DR6 protein demonstrated high reproducibility (r = 0.97. Compared to healthy donor controls, DR6 serum levels were not elevated in patients with uterine carcinosarcoma, bladder, liver, or pancreatic cancers. Serum DR6 protein levels from adult sarcoma patients were significantly elevated (p<0.001. This was most evident for patients with synovial sarcoma. Change in serum DR6 levels during therapy correlated with clinical benefit from therapy (sensitivity 75%, and positive predictive value 87%.DR6 may be a clinically useful diagnostic and predictive serum biomarker for some adult sarcoma subtypes.Diagnosis of sarcoma can be difficult and can lead to improper management of these cancers. DR6 serum protein may be a tool to aid in the diagnosis of some sarcomatous tumors to improve treatment planning. For patients with advanced disease, rising DR6 levels predict non-response to therapy and may expedite therapeutic decision making and reduce reliance on radiologic imaging.

  18. Relationship of stature to gamma and neutron exposure among atomic bomb survivors aged less than 10 at the time of the bomb, Hiroshima and Nagasaki

    International Nuclear Information System (INIS)

    Ishimaru, Toranosuke; Amano, Takako; Kawamoto, Sadahisa.

    1982-10-01

    A reanalysis has been undertaken of the relationship of attained adult height of Hiroshima and Nagasaki atomic bomb survivors aged less than 10 at the time of the bomb (ATB) to radiation dose based upon new dosimetry data. The present analysis aims to examine the relationship of stature to radiation dose in terms of gamma rays and neutrons, separately. The 628 individuals were selected from Hiroshima and Nagasaki survivors, aged less than 10 ATB, whose doses were available, and whose statures were recorded at the Adult Health Study (AHS) biennial health examination during 1970-72. To ascertain the relationship of attained adult stature to gamma and neutron doses three doseresponse models were applied to the data. The analysis revealed that the attained height is a separate function of exposure to gamma rays and neutrons. The model assuming a squared term dependence on gamma rays and a linear dependence on neutrons provides a better explanation of the data. The regression coefficient associated with the squared gamma dose is -0.00000927 and the coefficient associated with neutron dose is -0.0172. The relative biological effectiveness of neutrons in relation to gamma radiation with respect to the effect for diminished development of stature is estimated as 43.1 / √Dn in kerma (Dn=neutron dose). The 95% confidence limits are 19.3 / √Dn--96.5 / √Dn. (author)

  19. Gaia DR2 documentation Chapter 7: Variability

    Science.gov (United States)

    Eyer, L.; Guy, L.; Distefano, E.; Clementini, G.; Mowlavi, N.; Rimoldini, L.; Roelens, M.; Audard, M.; Holl, B.; Lanzafame, A.; Lebzelter, T.; Lecoeur-Taïbi, I.; Molnár, L.; Ripepi, V.; Sarro, L.; Jevardat de Fombelle, G.; Nienartowicz, K.; De Ridder, J.; Juhász, Á.; Molinaro, R.; Plachy, E.; Regibo, S.

    2018-04-01

    This chapter of the Gaia DR2 documentation describes the models and methods used on the 22 months of data to produce the Gaia variable star results for Gaia DR2. The variability processing and analysis was based mostly on the calibrated G and integrated BP and RP photometry. The variability analysis approach to the Gaia data has been described in Eyer et al. (2017), and the Gaia DR2 results are presented in Holl et al. (2018). Detailed methods on specific topics will be published in a number of separate articles. Variability behaviour in the colour magnitude diagram is presented in Gaia Collaboration et al. (2018c).

  20. Jameel, Dr Shahid

    Indian Academy of Sciences (India)

    Jameel, Dr Shahid Ph.D. (Washington State Univ.), FNASc, FNA. Date of birth: 8 August 1957. Specialization: Molecular Biology and Molecular Virology Address: Chief Executive Officer, The Wellcome Trust/DBT India Alliance, 8-2-684/3/K/19, Kaushik Society, Road NO. 12, Banjara Hills, Hyderabad 500 034, A.P.. Contact:

  1. Patterns of ancestry, signatures of natural selection, and genetic association with stature in Western African pygmies.

    Directory of Open Access Journals (Sweden)

    Joseph P Jarvis

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

  2. Pituitary stalk compression by the dorsum sellae: possible cause for late childhood onset growth disorders.

    Science.gov (United States)

    Taoka, Toshiaki; Iwasaki, Satoru; Okamoto, Shingo; Sakamoto, Masahiko; Nakagawa, Hiroyuki; Otake, Shoichiro; Fujioka, Masayuki; Hirohashi, Shinji; Kichikawa, Kimihiko

    2006-06-01

    The purpose of this study was to evaluate the relationship between pituitary stalk compression by the dorsum sellae and clinical or laboratory findings in short stature children. We retrospectively reviewed magnetic resonance images of the pituitary gland and pituitary stalk for 34 short stature children with growth hormone (GH) deficiency and 24 age-matched control cases. We evaluated the degree of pituitary stalk compression caused by the dorsum sellae. Body height, GH level, pituitary height and onset age of the short stature were statistically compared between cases of pituitary stalk compression with associated stalk deformity and cases without compression. Compression of the pituitary stalk with associated stalk deformity was seen in nine cases within the short stature group. There were no cases observed in the control group. There were no significant differences found for body height, GH level and pituitary height between the cases of pituitary stalk compression with associated stalk deformity and cases without compression. However, a significant difference was seen in the onset age between cases with and without stalk compression. Pituitary stalk compression with stalk deformity caused by the dorsum sellae was significantly correlated with late childhood onset of short stature.

  3. Dr. Albert Carr--Science Educator 1930-2000

    Science.gov (United States)

    Lopez, Leslie

    2013-01-01

    The very first issue of "Educational Perspectives" was published in October of 1962. Dr. Albert Carr wrote one of the inaugural essays on the topic of current developments in science education, and he went on to write several other articles for the journal. This article shares why Dr. Albert Carr's colleagues remember him for his…

  4. A Tribute to Dr. Willy Lens

    Directory of Open Access Journals (Sweden)

    Maarten Vansteenkiste

    2016-07-01

    Full Text Available Dr. Willy Lens, born on December 10th, 1943, passed away on August 29th, 2014. With his passing, the motivation community has lost a seminal member, a mentor, and a friend. Dr. Lens – a Fellow of the Association for Psychological Science and Founding Fellow of the American Educational Research Association – made fundamental contributions to the study of motivation both through his own work and through his caring and thoughtful mentorship of a large community of scholars. With this tribute, we want to honor Dr. Willy Lens’ significance to psychology and education as well as his positive influence, both personally and professionally, on the lives of dozens of scholars. With his contagious enthusiasm and caring mentorship, Willy was an example for our academic community and with this tribute we express our gratitude for the privilege to have collaborated with him.

  5. Drømmebilleder

    DEFF Research Database (Denmark)

    Fausing, Bent

    2014-01-01

    Bogen beskriver i en række intense analyser forbindelsen mellem ydre og indre billeder: altså mellem de moderne mediers billedverden og drømmens og erindringens indre billeder. I fokus for undersøgelsen er desuden kønnet, altså hvordan billeder viser, omformer eller skjuler kønnet, 'det andet', s...

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

    OpenAIRE

    Guégan, Jean-François; Teriokhin, A.T.; Thomas, F.

    2000-01-01

    In several animal species, change in sexual size dimorphism is a correlated response to selection on fecundity. In humans, different 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 empirical point of view the hypothesis that the extent of sexual dimorphism in human populations results from the interaction between fertility and size-related obstetric complications. We ...

  7. Profile Interview: Dr. Patrick Dongosolo Kamalo – Consultant ...

    African Journals Online (AJOL)

    Dr. Yohane Gadama (YG), an MMJ intern, interviews Dr. Patrick Dongosolo Kamalo (PDK) on his work as Malawi's only local practicing neurosurgeon, the launch of Blantyre Institute of Neurological Sciences (BINS) and the beginning of Neurosurgery training in Malawi ...

  8. Mishra, Dr A C

    Indian Academy of Sciences (India)

    Elected: 2009 Section: Medicine. Mishra, Dr A C . Ph.D. (Pune), FNA. Date of birth: 1 July 1950. Specialization: Human Viral Infection & Zoonotic Diseases, Public Health Address: Director, Interactive Research School of Health Affairs, Bharati Vidyapeeth University, ...

  9. Thiagarajan, Dr Pazhamaneri Subramaniam

    Indian Academy of Sciences (India)

    Elected: 1995 Section: Mathematical Sciences. Thiagarajan, Dr Pazhamaneri Subramaniam Ph.D. (Rice), FNASc. Date of birth: 9 November 1948. Specialization: Distributed Probabilistic Systems, Hybrid Systems and Computational Systems Biology Address: Laboratory of System Pharmacology, Harvard Medical School, ...

  10. Download this PDF file

    African Journals Online (AJOL)

    allows psychological and genetic counseling for the family. Karyotype ... Key Words: Short stature, genetic etiology, malfor- mation syndromes, chromosomal dis- orders. ... Genetic evaluation of proportionate short stature in Alexandria, Egypt ... the child's weight and length at birth, .... growth hormone deficiency, low insu-.

  11. Middle age onset short-term intermittent fasting dietary restriction prevents brain function impairments in male Wistar rats.

    Science.gov (United States)

    Singh, Rumani; Manchanda, Shaffi; Kaur, Taranjeet; Kumar, Sushil; Lakhanpal, Dinesh; Lakhman, Sukhwinder S; Kaur, Gurcharan

    2015-12-01

    Intermittent fasting dietary restriction (IF-DR) is recently reported to be an effective intervention to retard age associated disease load and to promote healthy aging. Since sustaining long term caloric restriction regimen is not practically feasible in humans, so use of alternate approach such as late onset short term IF-DR regimen which is reported to trigger similar biological pathways is gaining scientific interest. The current study was designed to investigate the effect of IF-DR regimen implemented for 12 weeks in middle age rats on their motor coordination skills and protein and DNA damage in different brain regions. Further, the effect of IF-DR regimen was also studied on expression of energy regulators, cell survival pathways and synaptic plasticity marker proteins. Our data demonstrate that there was an improvement in motor coordination and learning response with decline in protein oxidative damage and recovery in expression of energy regulating neuropeptides. We further observed significant downregulation in nuclear factor kappa B (NF-κB) and cytochrome c (Cyt c) levels and moderate upregulation of mortalin and synaptophysin expression. The present data may provide an insight on how a modest level of short term IF-DR, imposed in middle age, can slow down or prevent the age-associated impairment of brain functions and promote healthy aging by involving multiple regulatory pathways aimed at maintaining energy homeostasis.

  12. Association between HLA-DR antigens and rheumatoid arthritis in Arabs.

    OpenAIRE

    Sattar, M A; al-Saffar, M; Guindi, R T; Sugathan, T N; Behbehani, K

    1990-01-01

    Eighty five Arab patients with classical and definite rheumatoid arthritis were typed to determine the prevalence of HLA A, B, C, and DR antigens. A significant increase in the prevalence of HLA-A10, B8, B21, and DR3 was found in comparison with a control population matched for age and sex. HLA-DR5 was significantly decreased in the patient group. The classical association of HLA-DR4 with rheumatoid arthritis could not be confirmed in the Arab patients resident in Kuwait, supporting reported ...

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

    Science.gov (United States)

    Brewer, Gayle; Riley, Charlene

    2010-10-02

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

  14. Budhani, Dr Ramesh Chandra

    Indian Academy of Sciences (India)

    Budhani, Dr Ramesh Chandra Ph.D. (IIT, Delhi), FNASc, FNA. Date of birth: 3 February 1955. Specialization: Renewable Energy, Nanoscale Systems, Experimental Condensed Matter Physics, Superconductivity and Magnetism Address: Department of Physics, Lasers & Photonics, Indian Institute of Technology, Kanpur 208 ...

  15. Salunke, Dr Dinakar Mashnu

    Indian Academy of Sciences (India)

    Fellow Profile. Elected: 2001 Section: General Biology. Salunke, Dr Dinakar Mashnu Ph.D. (IISc), FNASc, FNA, FTWAS. Date of birth: 1 July 1955. Specialization: Structural Biology, Macromolecular Crystallography and Immunology Address: Director, International Centre for Genetic Engineering, & Biotechnology, Aruna Asaf ...

  16. Watve, Dr Milind Gajanan

    Indian Academy of Sciences (India)

    Date of birth: 12 December 1957. Specialization: Wildlife Ecology & Animal Cognition, Evolutionary Biology, Computational Biology and Microbial Diversity Address: Professor, Biology, Indian Institute of Science Education & Research, Dr Homi Bhabha Road, Pashan, Pune 411 008, Maharashtra Contact: Office: (020) 2590 ...

  17. Shivanna, Dr Kundaranahalli Ramalingaiah

    Indian Academy of Sciences (India)

    Elected: 1985 Section: Plant Sciences. Shivanna, Dr Kundaranahalli Ramalingaiah Ph.D. (Delhi), FNA, FNAAS, FNASc. Date of birth: 30 June 1940. Specialization: Pollen Biology, Reproductive Ecology and Conservation Biology Address: Odekar Farms, Nandihalli, via Thovinakere, Tumkur 572 138, Karnataka Contact:

  18. Gaia DR1 documentation

    Science.gov (United States)

    van Leeuwen, F.; de Bruijne, J. H. J.; Arenou, F.; Comoretto, G.; Eyer, L.; Farras Casas, M.; Hambly, N.; Hobbs, D.; Salgado, J.; Utrilla Molina, E.; Vogt, S.; van Leeuwen, M.; Abreu, A.; Altmann, M.; Andrei, A.; Babusiaux, C.; Bastian, U.; Biermann, M.; Blanco-Cuaresma, S.; Bombrun, A.; Borrachero, R.; Brown, A. G. A.; Busonero, D.; Busso, G.; Butkevich, A.; Cantat-Gaudin, T.; Carrasco, J. M.; Castañeda, J.; Charnas, J.; Cheek, N.; Clementini, G.; Crowley, C.; Cuypers, J.; Davidson, M.; De Angeli, F.; De Ridder, J.; Evans, D.; Fabricius, C.; Findeisen, K.; Fleitas, J. M.; Gracia, G.; Guerra, R.; Guy, L.; Helmi, A.; Hernandez, J.; Holl, B.; Hutton, A.; Klioner, S.; Lammers, U.; Lecoeur-Taïbi, I.; Lindegren, L.; Luri, X.; Marinoni, S.; Marrese, P.; Messineo, R.; Michalik, D.; Mignard, F.; Montegriffo, P.; Mora, A.; Mowlavi, N.; Nienartowicz, K.; Pancino, E.; Panem, C.; Portell, J.; Rimoldini, L.; Riva, A.; Robin, A.; Siddiqui, H.; Smart, R.; Sordo, R.; Soria, S.; Turon, C.; Vallenari, A.; Voss, H.

    2017-12-01

    We present the first Gaia data release, Gaia DR1, consisting of astrometry and photometry for over 1 billion sources brighter than magnitude 20.7 in the white-light photometric band G of Gaia. The Gaia Data Processing and Analysis Consortium (DPAC) processed the raw measurements collected with the Gaia instruments during the first 14 months of the mission, and turned these into an astrometric and photometric catalogue. Gaia DR1 consists of three parts: an astrometric data set which contains the positions, parallaxes, and mean proper motions for about 2 million of the brightest stars in common with the Hipparcos and Tycho-2 catalogues (the primary astrometric data set) and the positions for an additional 1.1 billion sources (the secondary astrometric data set). The primary set forms the realisation of the Tycho-Gaia Astrometric Solution (TGAS). The second part of Gaia DR1 is the photometric data set, which contains the mean G-band magnitudes for all sources. The third part consists of the G-band light curves and the characteristics of 3000 Cepheid and RR Lyrae stars observed at high cadence around the south ecliptic pole. The positions and proper motions in the astrometric data set are given in a reference frame that is aligned with the International Celestial Reference Frame (ICRF) to better than 0.1 mas at epoch J2015.0, and non-rotating with respect to the ICRF to within 0.03 mas yr^-1. For the primary astrometric data set, the typical standard error for the positions and parallaxes is about 0.3 mas, while for the proper motions the typical standard error is about 1 mas yr^-1. Whereas it has been suggested in Gaia Collaboration et al. (2016a) that a systematic component of ∼0.3 mas should be 'added' (in quadrature) to the parallax uncertainties, Brown (2017) clarifies that reported parallax standard errors already include local systematics as a result of the calibration of the TGAS parallax uncertainties by comparison to Hipparcos parallaxes. For the subset of

  19. Changes in radiation dose with variations in human anatomy: larger and smaller normal-stature adults.

    Science.gov (United States)

    Marine, Patrick M; Stabin, Michael G; Fernald, Michael J; Brill, Aaron B

    2010-05-01

    A systematic evaluation has been performed to study how specific absorbed fractions (SAFs) vary with changes in adult body size, for persons of different size but normal body stature. A review of the literature was performed to evaluate how individual organ sizes vary with changes in total body weight of normal-stature individuals. On the basis of this literature review, changes were made to our easily deformable reference adult male and female total-body models. Monte Carlo simulations of radiation transport were performed; SAFs for photons were generated for 10th, 25th, 75th, and 90th percentile adults; and comparisons were made to the reference (50th) percentile SAF values. Differences in SAFs for organs irradiating themselves were between 0.5% and 1.0%/kg difference in body weight, from 15% to 30% overall, for organs within the trunk. Differences in SAFs for organs outside the trunk were not greater than the uncertainties in the data and will not be important enough to change calculated doses. For organs irradiating other organs within the trunk, differences were significant, between 0.3% and 1.1%/kg, or about 8%-33% overall. The differences are interesting and can be used to estimate how different patients' dosimetry might vary from values reported in standard dose tables.

  20. Safety evaluation for packaging for 1720-DR sodium-filled tank

    International Nuclear Information System (INIS)

    Mercado, M.S.

    1996-01-01

    Preparations are under way to sell the sodium stored in the 1720-DR tank in the 1720-DR building. This will require that the tank, as well as the 1720-DR facility, be moved to the 300 Area, so that the sodium may be melted and transferred into a railroad tanker car. Because the sodium is a hazardous material and is being shipped in a nonspecification packaging, a safety evaluation for packaging (SEP) is required. This SEP approves the sodium-filled tank for a single shipment from the 105-DR area to the 300 Area

  1. Adolescent growth : genes, hormones and the peer group. Proceedings of the 20th Aschauer Soiree, held at Glücksburg castle, Germany, 15th to 17th November 2013

    NARCIS (Netherlands)

    Tassenaar, Vincent

    The association between poverty, malnutrition, illness and poor socioeconomic conditions on the one side, and poor growth and short adult stature on the other side, is well recognized. Yet, the simple assumption by implication that poor growth and short stature result from poor living conditions,

  2. Chandrashekar, Dr Tavarekere Kalliah

    Indian Academy of Sciences (India)

    Fellow Profile. Elected: 2000 Section: Chemistry. Chandrashekar, Dr Tavarekere Kalliah Ph.D. (IISc), FNASc, FNA, FTWAS Council Service: 2013-15. Date of birth: 1 January 1956. Specialization: Bio-inorganic Chemistry, Synthetic Inorganic Chemistry and Catalysis Address: Senior Professor, School of Chemical Sciences, ...

  3. Majumdar, Dr Subeer Suhash

    Indian Academy of Sciences (India)

    Fellow Profile. Elected: 2014 Section: Animal Sciences. Majumdar, Dr Subeer Suhash Ph.D. (nagpur), FNA, FNASc. Date of birth: 21 May 1961. Specialization: Animal Biotechnology, Transgenic Animals, Endocrinology Address: Director, National Institute of Animal Biotechnology, Gopan Pally, Hyderabad 500 046, A.P.

  4. Gupta, Dr Chhitar Mal

    Indian Academy of Sciences (India)

    Gupta, Dr Chhitar Mal Ph.D. (Agra), FNA, FNASc, FAMS, FTWAS Council Service: 1998-2000. Date of birth: 1 September 1944. Specialization: Membrane Biology, Bio-organic Chemistry and Molecular Biophysics Address: Distinguished Professor and Infosys Chair, Institute of Bioinformatics & Applied Biotechnology, Room ...

  5. Babu, Dr Cherukuri Raghavendra

    Indian Academy of Sciences (India)

    Fellow Profile. Elected: 1990 Section: Plant Sciences. Babu, Dr Cherukuri Raghavendra D.Phil. (Calcutta). Date of birth: 30 June 1940. Specialization: Biosystematics, Ecology and Population Genetics Address: Professor Emeritus, CEMDE, School of Environmental Studies, University of Delhi, Delhi 110 007, U.T.. Contact:

  6. Anil, Dr Arga Chandrashekar

    Indian Academy of Sciences (India)

    Home; Fellowship. Fellow Profile. Elected: 2015 Section: Earth & Planetary Sciences. Anil, Dr Arga Chandrashekar Ph.D. (Karnatak). Date of birth: 23 January 1959. Specialization: Biological Oceanography, Marine Ecology, Marine Biology Address: Chief Scientist, National Institute of Oceanography, Dona Paula 403 004, ...

  7. Sharma, Dr Ram Swaroop

    Indian Academy of Sciences (India)

    Home; Fellowship. Fellow Profile. Elected: 1989 Section: Earth & Planetary Sciences. Sharma, Dr Ram Swaroop Ph.D. (Basel), FNA. Date of birth: 10 July 1937. Specialization: Metamorphic Petrology, Mineralogy and Precambrian Geology Address: 70/36, Pratapnagar, Sector 7, Sanganer (RHB), Jaipur 302 033, Rajasthan

  8. Dr Satish R. Shetye

    Indian Academy of Sciences (India)

    Elected: 1992 Section: Earth & Planetary Sciences. Shetye, Dr Satish Ramnath Ph.D. (Washington), FNA, FNASc. Council Service: 1998-2003. Date of birth: 25 October 1950. Specialization: Physical Oceanography Address: Vice Chancellor, Goa University, Taleigao Plateau 403 206, Goa Contact: Office: (0832) 651 9001

  9. Jena, Dr Prafulla Kumar

    Indian Academy of Sciences (India)

    Jena, Dr Prafulla Kumar Ph.D. (Utkal). Date of birth: 27 December 1931. Specialization: Extractive Metallurgy, Mineral Processing, Environmental Engineering and Materials Processing Address: Chairman, Institute of Advance Technology and Environmental Studies, 80A-831A Lewis Road, Bhubaneswar 751 002, Orissa

  10. Kulkarni, Dr Mohan Gopalkrishna

    Indian Academy of Sciences (India)

    Elected: 1996 Section: Engineering & Technology. Kulkarni, Dr Mohan Gopalkrishna Ph.D. (Mumbai), FNAE. Date of birth: 14 November 1950. Specialization: Polymer Science & Engineering, Intellectual Property Address: Emeritus Scientist, Unit for R&D of Information Products, Tapovan, NCL Campus, Pashan Road, Pune ...

  11. Apte, Dr Shree Kumar

    Indian Academy of Sciences (India)

    Elected: 2008 Section: General Biology. Apte, Dr Shree Kumar Ph.D. (Gujarat), FNA, FNASc, FNAAS. Date of birth: 18 October 1952. Specialization: Molecular Biology & Biotechnology, Physiology and Stress Biology of Bacteria & Plants Address: Emeritus Professor, Homi Bhabha National Institute, Anushakti Nagar, ...

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

    Science.gov (United States)

    Lynn, Richard

    2010-01-01

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

  13. Teaching medicine with the help of "Dr. House".

    Science.gov (United States)

    Jerrentrup, Andreas; Mueller, Tobias; Glowalla, Ulrich; Herder, Meike; Henrichs, Nadine; Neubauer, Andreas; Schaefer, Juergen R

    2018-01-01

    TV series such as "House MD", "Grey´s Anatomy" or "Emergency Room" are well perceived by medical students. Seminars featuring medical TV series such as "House MD" might serve as door-opener to attract medical students to learn more about rare diseases. The TV series "House MD" is troublesome for the main character Dr. House is an excellent diagnostician but at the same time a rather misanthropic person. Therefore, lecturing medicine with the help of "House MD" requires constant evaluation. From 2008 to 2016 we are using the well-known TV series "House MD" continuously to attract medical students and teach them about rare diseases as well as diagnostic strategies. We collected from 213 students a detailed questionnaire assessing their learning experience. 76.6% of our students (n = 157) reported to watching medical dramas on a regular basis. The Dr. House seminar was compared to traditional seminars and our students reported an improved learning effect (69.9%), better concentration (89.7%), higher motivation to participate (88.7%), and more fun (86.7%) (all pHouse's behavior quite critically. Likert assessment on a 5-point scale identified strong disagreement with Dr. House´s interpersonal skills in dealing with his colleagues (median = 1) and patients (median = 1). At the same time, the students strongly agreed with his outstanding diagnostic (median = 5) and therapeutic capabilities (median = 4). Medical students visiting a Dr. House teaching seminar are highly motivated to learn more about rare diseases. They were positively influenced by TV series such as Dr. House to improve their diagnostic and clinical skills. At the same time, they are critical enough not to see Dr. House as a role model for their own personality. Well performed medical TV shows such as Dr. House can successfully be used in an educational setting to motivate medical students to come into seminars to learn more about rare diseases.

  14. Dr. Tulp's Anatomy Lesson by Rembrandt: the third day hypothesis.

    Science.gov (United States)

    Afek, Arnon; Friedman, Tal; Kugel, Chen; Barshack, Iris; Lurie, Doron J

    2009-07-01

    An autopsy was an important event in 17th century Holland. Autopsies were held in an 'anatomy theater' and performed according to a fixed protocol that often took up to 3 days to complete. Of the five group portraits painted by Rembrandt over the course of his career, two were anatomy lessons given by Dr. Tulp and Dr. Deyman. An examination of Rembrandt's painting Dr. Tulp's Anatomy Lesson (1632) and an X-ray image of the painting, as compared to other paintings of anatomy lessons from the same period, reveal interesting differences, such as positioning, and light and shadow. Not only was the autopsy not performed according to the usual protocol, but in this painting Rembrandt created a unique dramatic scene in his effort to tell a story. We suggest that Dr. Tulp and Rembrandt "modified" the painting of Dr. Tulp's anatomy lesson to emphasize Dr. Tulp's position as the greatest anatomist of his era--"Vesalius of Amsterdam," and as a way of demonstrating God's greatness by highlighting the hand as a symbol of the most glorious of God's creations.

  15. Brahmayya Sastry, Dr Podila

    Indian Academy of Sciences (India)

    Elected: 1978 Section: Medicine. Brahmayya Sastry, Dr Podila Ph.D. (McGill). Date of birth: 24 May 1913. Date of death: 28 May 1993. Specialization: Physiology, Neurophysiology and Placental Physiology Last known address: Sitaramanilayam, Plot No. 9, Doctors Co-Operative Housing Colony, Waltair, Visakhapatnam ...

  16. Chitnis, Dr Chetan Eknath

    Indian Academy of Sciences (India)

    Home; Fellowship. Fellow Profile. Elected: 2009 Section: Medicine. Chitnis, Dr Chetan Eknath Ph.D. (UC, Berkeley), FNA. Date of birth: 3 April 1961. Specialization: Molecular Parasitology, Vaccine Development for Malaria and Molecular & Cell Biology Address: Head, Malaria Parasite Biology & Vaccine, Institut Pasteur, 28, ...

  17. Sharma, Dr Surendra Kumar

    Indian Academy of Sciences (India)

    Elected: 2010 Section: Medicine. Sharma, Dr Surendra Kumar Ph.D. (AIIMS), MD (PGIMER, Chandigarh), FNASc, FNA. Date of birth: 22 February 1951. Specialization: Environmental Medicine, Infectious Diseases, Internal Medicine, Pulmonary & Critical Care and Sleep Medicine Address: B-5/3, B Block, Sector 13, RK ...

  18. Valluri, Dr Sitaram Rao

    Indian Academy of Sciences (India)

    Home; Fellowship. Fellow Profile. Elected: 1971 Section: Engineering & Technology. Valluri, Dr Sitaram Rao Ph.D. (Caltech). Date of birth: 25 June 1924. Specialization: Metal Fatigue Address: 'Prashanthi', 659, 100 Feet Road, Indiranagar, Bengaluru 560 038, Karnataka Contact: Residence: (080) 2525 8294. YouTube ...

  19. Shastry, Dr B Sriram

    Indian Academy of Sciences (India)

    Shastry, Dr B Sriram Ph.D. (Mumbai), FNA, FNASc, FTWAS. Date of birth: 26 November 1950. Specialization: Strongly-Correlated Fermi Systems, Quantum Integrable Systems Address: Distinguished Professor, Department of Physics, University of California, Santa Cruz, CA 95064, USA Contact: Office: (+1-831) 459 5849

  20. Gangal, Dr Sharad Vishwanath

    Indian Academy of Sciences (India)

    Gangal, Dr Sharad Vishwanath Ph.D. (Mumbai), FNASc. Date of birth: 2 May 1937. Specialization: Allergy, Immunology and Biochemistry Address: Lakshmi Niwas, Opp. Santoshi Mata Temple (B Cabin), Sane Guruji Path, Naupada, Thane 400 602, Maharashtra Contact: Residence: (022) 2537 6961. Mobile: 93249 24307

  1. Paranjpe, Dr Pramod Anand

    Indian Academy of Sciences (India)

    Elected: 1975 Section: Engineering & Technology. Paranjpe, Dr Pramod Anand D.Sc. Tech. (ETH Zurich). Date of birth: 1 April 1934. Specialization: Turbomachinery and Jet Propulsion Systems Address: 'Bahaar', 5, Hindustan Estate, Road No. 13, Kalyaninagar, Pune 411 006, Maharashtra Contact: Residence: (020) 2668 ...

  2. Thakur, Dr Vikram Chandra

    Indian Academy of Sciences (India)

    Home; Fellowship. Fellow Profile. Elected: 1991 Section: Earth & Planetary Sciences. Thakur, Dr Vikram Chandra Ph.D. (London). Date of birth: 15 January 1940. Specialization: Structural Geology, Tectonics of Himalayan Geology and Active Tectonics Address: 9/12 (Lane 9), Ashirwad Eclave, Dehra Dun 248 001, ...

  3. Gangal, Dr Sudha Gajanan

    Indian Academy of Sciences (India)

    Gangal, Dr Sudha Gajanan Ph.D. (Mumbai), FNA Council Service: 1995-97. Date of birth: 25 August 1934. Specialization: Cancer & Basic Immunology, Cell Biology and Genetic Diseases Address: 4, Mahavishnu Apartments, Dahanukar Colony A, Kothrud, Pune 411 029, Maharashtra Contact: Residence: (020) 2538 4382, ...

  4. Mishra, Dr Rakesh K

    Indian Academy of Sciences (India)

    Mishra, Dr Rakesh K Ph.D. (Allahabad), FNASc, FNA. Date of birth: 14 April 1961. Specialization: Genomics, Chromatin, Epigenetics Address: Director, Centre for Cellular & Molecular Biology, Uppal Road, Hyderabad 500 007, A.P.. Contact: Office: (040) 2719 2600. Residence: (040) 2720 6400. Mobile: 94419 02188

  5. Parnaik, Dr Veena Krishnaji

    Indian Academy of Sciences (India)

    Elected: 2008 Section: Animal Sciences. Parnaik, Dr Veena Krishnaji Ph.D. (Ohio State), FNA. Date of birth: 22 August 1953. Specialization: Cell Biology, Molecular Biology, Lamins and Nuclear Organisation Address: INSA Senior Scientist, Centre for Cellular & Molecular Biology, Uppal Road, Hyderabad 500 007, A.P.

  6. Dr. Shi Hanzhang's Experience in Treating Andropathy

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    @@ Dr. Shi Hanzhang (施汉章) of Dongzhimen Hospital affiliated to Beijing University of Traditional Chinese Medicine is experienced in both teaching and clinical practice, especially in treating andropathy, such as sexual disorder, infertility, and hyperplasia of the prostate. The author has the honour to follow him for study and really learned a lot from him. A brief introduction to Dr. Shi's way of thinking in treatment is as follows.

  7. Volume celebrating the 60th birthday of Professor Dr. Franz Fie; Professor Dr. Franz Fiedler zum 60. Geburtstag

    Energy Technology Data Exchange (ETDEWEB)

    Beheng, K.D. [ed.

    1998-01-01

    This report was compiled in honor of Professor Dr. Franz Fiedler on the occasion of his 60th birthday on 7 January 1998. Its contributions deal with mesoscale modelling, the propagation of air pollutants, measurements of precipitation using radar, and prediction models. (orig./KW) [Deutsch] Dieser Bericht wurde aus Anlass des 60. Geburtstags von Herrn Prof. Dr. Franz Fiedler am 7. Januar 1998 zusammengestellt. Die Beitraege behandeln mesoskalige Modellierung, Ausbreitung von Luftschadstoffen, Niederschlagsmessung mit Radar und Vorhersagemodelle. (orig.)

  8. Morphological alteration of the Dráva as the result of human impact

    Directory of Open Access Journals (Sweden)

    Tímea Kiss

    2011-10-01

    Full Text Available The Croatian-Hungarian border section of the Dráva River has been undisturbed for almost a century, and it is characterised by unique fluvial morphology (braided pattern and islands supporting rich habitats and wildlife. However, during the last decades human impact became more and moreintensive. Between 1975 and 1989 three water reservoirs were built on the Croatian section of the river, just 16 km from the beginning of the border-section, altering the hydrology and the sediment characteristics of the river. On a local scale cut-offs, revetments and groynes were built. The aim of the study was to evaluate the effect of these human interventions. As the result of the alteration of the hydrology the channel pattern of the Dráva has been changing from braided to meandering, though on the upstream meandering part the territory and number of islands increased due to the drop of water stages. A cut-off and a groyne influenced only the morphology of a short section. As the result of the cut-off braided pattern became more pronounced, and the groyne caused intensive channel aggradation and gave way to lateral island development.

  9. Familial congenital bowing with short thick bones and metaphyseal changes, a distinct entity

    International Nuclear Information System (INIS)

    Rezza, E.; Lendvai, D.; Iannaccone, G.

    1984-01-01

    The authors describe two siblings, a male and a female, with disproportionate short stature, rhizomelic-mesomelic shortening of the limb bones, marked bowing of the femora, moderate bowing of the humeri, radii and ulnae, straight tibiae and fibulae, normal hands, flared cupped metaphyses of the tibiae, ulnae, raddi and ribs, and narrow chest. There was some improvement of the bone changes with advancing age. These two patients are similar to five other cases from the literature and strongly support Hall and Spranger's view that this pseudocampomelic condition most likely represents a distinct familial bowing syndrome. The differential diagnosis and the hereditary aspects in the two patients, are also briefly discussed. (orig.)

  10. Dr. Lewis Kitchener Dahl, the Dahl Rats and the ‘Inconvenient truth’ abou the Genetics of Hypertension

    Science.gov (United States)

    Joe, Bina

    2014-01-01

    Synopsis Lewis K. Dahl is regarded as an iconic figure in the field of hypertension research. During the 1960s and 1970s he published several seminal articles in the field that shed light on the relationship between salt and hypertension. Further, the Dahl rat models of hypertension that he developed by a selective breeding strategy are among the most widely used models for hypertension research. To this day, genetic studies using this model are ongoing in our laboratory. While Dr. Dahl is known for his contributions to the field of hypertension, very little, if any, of his personal history is documented. This article details a short biography of Dr. Lewis Dahl, the history behind the development of the Dahl rats and presents an overview of the results obtained through the genetic analysis of the Dahl rat as an experimental model to study the inheritance of hypertension. PMID:25646295

  11. For Dr. Nancy Snyderman's Parents, Staying Close to Family Is Key

    Science.gov (United States)

    ... to move closer to their daughter and her family, as part of the next chapter in their lives. Photo courtesy of Dr. Nancy Snyderman As Chief Medical Editor for NBC News and host of the popular MSNBC show, Dr. Nancy , Dr. ...

  12. DR and CR: Recent advances in technology

    International Nuclear Information System (INIS)

    Schaefer-Prokop, C.M.; De Boo, D.W.; Uffmann, M.; Prokop, M.

    2009-01-01

    After some initial reluctance, nowadays transition from conventional analogue-to-digital radiographic technique is realized in the vast majority of institutions. The eventual triumph of digital over conventional technique is related to its undoubted advantages with respect to image quality and improved image handling in the context of a picture archiving and communication system. CR represents the older system, which matured over decades and experienced some important recent improvements with respect to dose efficiency and work-flow efficiency that strengthened its position. It represents a very versatile, economically attractive system that is equally suited for integrated systems as well as for cassette-based imaging at the bedside. DR systems offer superb image quality and realistic options for dose reduction based on their high dose efficiency. While for a long time only integrated systems were on the market suited for a large patient throughput, also mobile DR systems became recently available. While for the next years, it is likely that DR and CR systems will coexist, the long term perspective of CR will depend on further innovations with respect to dose efficiency and signal-to-noise characteristics while for DR economical aspects and broader availability of mobile systems will play a role.

  13. [Molecular and cytogenetic characterization of six 46, XX males due to translocations between the short arms of X and Y chromosomes].

    Science.gov (United States)

    Xing, Ya; Ji, Xing; Xiao, Bing; Jiang, Wen-ting; Hu, Qin; Hu, Juan; Cao, Ying; Tao, Jiong

    2012-08-01

    To characterize molecular and cytogenetic abnormalities in six 46, XX males, and to investigate the clinical manifestations and underlying mechanisms in such patients. Clinical data of six XX male patients were collected. Karyotyping, multiple polymerase chain reaction (PCR) and fluorescence in situ hybridization (FISH) were utilized to detect and locate the sex determining region (SRY) gene. PCR and FISH showed that all patients were SRY-positive XX males. All patients have their SRY gene located at the tip of derivative X chromosomes, which have resulted from translocation between short arms of X and Y chromosomes. High resolution karyotyping at 550-750 band level has revealed that the translocation breakpoints were at Xp22.33 and Yp11.2 in three patients. In the remaining patients, the breakpoints were either at Xp22.32 and Yp11.31 or Xp22.31 and Yp11.2. The breakpoints at Xp22.32, Xp22.31 and Yp11.31 were rarely reported. Genotype-phenotype correlation analysis indicated that the clinical manifestations were age-specific. Four adult patients have come to clinical attention due to infertility, with typical features including azoospermia and testis dysgenesis, whereas poorly developed secondary sexual characteristics and short stature were main complaints of adolescence patients, and short stature was the sole symptom in a child patient. Combined karyotyping, PCR and FISH are important for the analysis of XX males. Particularly, high resolution karyotyping is valuable for the refinement of chromosome breakpoints and detailed analysis of genotype-phenotype correlation.

  14. Bal, Dr Dattatreya Vaman

    Indian Academy of Sciences (India)

    Home; Fellowship. Fellow Profile. Elected: 1943 Section: Animal Sciences. Bal, Dr Dattatreya Vaman Ph.D. (Liverpool). Date of birth: 25 August 1905. Date of death: 1 April 1999. Specialization: Marine Zoology, Oceanography. Fisheries and Aquaculture Last known address: 104, Swaroop Complex, Karve Road, Pune 411 ...

  15. Bhawalkar, Dr Dilip Devidas

    Indian Academy of Sciences (India)

    Fellow Profile. Elected: 1986 Section: Physics. Bhawalkar, Dr Dilip Devidas Ph.D. (Southampton), FNA, FNASc. Date of birth: 16 October 1940. Specialization: Lasers and laser Instrumentation Address: 26, Paramanu Nagar, Indore 452 013, M.P.. Contact: Office: (0731) 232 2707. Residence: (0731) 232 0031. Mobile: 93032 ...

  16. Agrewala, Dr Javed Naim

    Indian Academy of Sciences (India)

    Agrewala, Dr Javed Naim Ph.D. (Agra), FNA, FNASc. Date of birth: 14 May 1961. Specialization: Immunology, Vaccine, Drug Discovery Address: Chief Scientist, Immunology Laboratory, Institute of Microbial Technology, Sector 39A, Chandigarh 160 036, U.T.. Contact: Office: (0172) 666 5261. Residence: (0172) 666 5514

  17. Barua, Dr Asok Kumar

    Indian Academy of Sciences (India)

    Elected: 1987 Section: Physics. Barua, Dr Asok Kumar Ph.D. (Calcutta). Date of birth: 1 July 1936. Specialization: Solid State Materials, Thin Film Technology and Thin Film Solar Cells Address: Honorary Emeritus Professor, Indian Institute of Engineering Science & Technology, Shibpur, Howrah 711 103, W.B.. Contact:

  18. Gurjar, Dr Mukund Keshao

    Indian Academy of Sciences (India)

    Gurjar, Dr Mukund Keshao Ph.D. (Nagpur and London), FNASc. Date of birth: 28 August 1952. Specialization: Carbohydrate Chemistry and Synthetic Organic Chemistry Address: Director, R&D, Emcure Pharmaceuticals Limited, P2, ITBT Park Phase II, Hinjwadi, Pune 411 057, Maharashtra Contact: Office: (020) 3982 1350, ...

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

    OpenAIRE

    Mather, George

    2010-01-01

    Body size is crucial for determining the outcome of competition for resources and mates. Many species use acoustic cues to measure caller body size. Vision is the pre-eminent sense for humans, but visual depth cues are of limited utility in judgments of absolute body size. The reliability of internal body proportion as a potential cue to stature was assessed with a large sample of anthropometric data, and the ratio of head height to body height (HBR) was found to be highly correlated with sta...

  20. Dr Jekels' health resort in Bystra near Bielsko: the first treatment centre which adopted psychoanalysis in Poland.

    Science.gov (United States)

    Dembińska, Edyta; Rutkowski, Krzysztof

    2017-08-29

    The paper sets out to present the history of a health resort and hydrotherapy centre in Bystra near Bielsko from 1898 to 1912. At that time Dr Ludwik Jekels, one of the Polish psychoanalysis forerunners, was the owner of the centre. Initially, Dr Jekels was very enthusiastic about climatic treatment and hydrotherapy, until 1905 when he got interested in psychoanalysis. Shortly afterwards he became its staunch supporter and adopted it as a curative procedure in his health resort. That was the first documented case of psychoanalysis use in Poland. This paper presents the development of the therapeutic centre in Bystra and the characteristic of typical patients receiving treatment there. It also briefly reports on medical histories of the conditions of patients who received psychoanalytic treatment. The paper also focuses on another significant area of Dr Jekels'contact with Sigmund Freud ranging from an accidental meeting in Vienna around 1898, through the summer of 1910 when Jekels looked after Freud's daughters in his spa, to 1912 which saw Jekels'receiving psychoanalytic treatment from Freud. It also presents a detailed analysis of hypotheses why Jekels decided to sell the health resort and move to Vienna. Finally, the significance of Jekels'currently underrated therapeutic work for the development of the Polish psychoanalysis is reiterated.

  1. Dwarfism (For Parents)

    Science.gov (United States)

    ... incapable. Little people go to school, go to work, drive cars, marry, and raise children, just like their average-size peers. What Causes Short Stature? More than 300 well-described conditions are known to cause short stature in a child. Most are caused by a spontaneous genetic change ( ...

  2. Referral patterns of children with poor growth in primary health care

    NARCIS (Netherlands)

    Grote, F.K.; Oostdijk, W.; Muinck Keizer-Schrama, S.M.P.F. de; Dekker, F.W.; Dommelen, P. van; Buuren, S. van; Lodder-van der Kooij, A.M.; Verkerk, P.H.; Wit, J.M.

    2007-01-01

    Background. To promote early diagnosis and treatment of short stature, consensus meetings were held in the mid nineteen nineties in the Netherlands and the UK. This resulted in guidelines for referral. In this study we evaluate the referral pattern of short stature in primary health care using these

  3. Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients.

    Science.gov (United States)

    Freire, Bruna L; Homma, Thais K; Funari, Mariana F A; Lerario, Antônio M; Leal, Aline M; Velloso, Elvira D R P; Malaquias, Alexsandra C; Jorge, Alexander A L

    2018-03-01

    Fanconi Anemia (FA) is a rare and heterogeneous genetic syndrome. It is associated with short stature, bone marrow failure, high predisposition to cancer, microcephaly and congenital malformation. Many genes have been associated with FA. Previously, two adult patients with biallelic pathogenic variant in Breast Cancer 1 gene (BRCA1) had been identified in Fanconi Anemia-like condition. The proband was a 2.5 year-old girl with severe short stature, microcephaly, neurodevelopmental delay, congenital heart disease and dysmorphic features. Her parents were third degree cousins. Routine screening tests for short stature was normal. We conducted whole exome sequencing (WES) of the proband and used an analysis pipeline to identify rare nonsynonymous genetic variants that cause short stature. We identified a homozygous loss-of-function BRCA1 mutation (c.2709T > A; p. Cys903*), which promotes the loss of critical domains of the protein. Cytogenetic study with DEB showed an increased chromosomal breakage. We screened heterozygous parents of the index case for cancer and we detected, in her mother, a metastatic adenocarcinoma in an axillar lymph node with probable primary site in the breast. It is possible to consolidate the FA-like phenotype associated with biallelic loss-of-function BRCA1, characterized by microcephaly, short stature, developmental delay, dysmorphic face features and cancer predisposition. In our case, the WES allowed to establish the genetic cause of short stature in the context of a chromosome instability syndrome. An identification of BRCA1 mutations in our patient allowed precise genetic counseling and also triggered cancer screening for the patient and her family members. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  4. Overall properties of the Gaia DR1 reference frame

    Science.gov (United States)

    Liu, N.; Zhu, Z.; Liu, J.-C.; Ding, C.-Y.

    2017-03-01

    Aims: The first Gaia data release (Gaia DR1) provides 2191 ICRF2 sources with their positions in the auxiliary quasar solution and five astrometric parameters - positions, parallaxes, and proper motions - for stars in common between the Tycho-2 catalogue and Gaia in the joint Tycho-Gaia astrometric solution (TGAS). We aim to analyze the overall properties of Gaia DR1 reference frame. Methods: We compare quasar positions of the auxiliary quasar solution with ICRF2 sources using different samples and evaluate the influence on the Gaia DR1 reference frame owing to the Galactic aberration effect over the J2000.0-J2015.0 period. Then we estimate the global rotation between TGAS with Tycho-2 proper motion systems to investigate the property of the Gaia DR1 reference frame. Finally, the Galactic kinematics analysis using the K-M giant proper motions is performed to understand the property of Gaia DR1 reference frame. Results: The positional comparison between the auxiliary quasar solution and ICRF2 shows negligible orientation and validates the declination bias of -0.1mas in Gaia quasar positions with respect to ICRF2. Galactic aberration effect is thought to cause an offset 0.01mas of the Z axis direction of Gaia DR1 reference frame. The global rotation between TGAS and Tycho-2 proper motion systems, obtained by different samples, shows a much smaller value than the claimed value 0.24mas yr-1. For the Galactic kinematics analysis of the TGAS K-M giants, we find possible non-zero Galactic rotation components beyond the classical Oort constants: the rigid part ωYG = -0.38±0.15mas yr-1 and the differential part ω^primeYG = -0.29±0.19mas yr-1 around the YG axis of Galactic coordinates, which indicates possible residual rotation in Gaia DR1 reference frame or problems in the current Galactic kinematical model. Conclusions: The Gaia DR1 reference frame is well aligned to ICRF2, and the possible influence of the Galactic aberration effect should be taken into consideration

  5. Nageswara Rao, Dr Gullapalli

    Indian Academy of Sciences (India)

    Nageswara Rao, Dr Gullapalli M.D. (Opthal.) (AIIMS), FAMS, FACS, FRCS, FNASc. Date of birth: 1 September 1945. Specialization: Cornea, Community Eye Health and Eye Care Policy & Planning Address: Distinguished Chair of Eye Health, LV Prasad Eye Institute, LV Prasad Marg, Banjara Hills, Hyderabad 500 034, A.P.

  6. Ghosh, Dr Pushpito Kumar

    Indian Academy of Sciences (India)

    Home; Fellowship. Fellow Profile. Elected: 2010 Section: Chemistry. Ghosh, Dr Pushpito Kumar Ph.D. (Princeton). Date of birth: 29 May 1954. Specialization: Processes Research, Water Purification, Renewable Energy, R&D Management Address: A-604, Punit Park, Plot No. 182/C, Sector 17, Merol, Navi Mumbai 400 706, ...

  7. Nandicoori, Dr Vinay Kumar

    Indian Academy of Sciences (India)

    Home; Fellowship. Fellow Profile. Elected: 2018 Section: General Biology. Nandicoori, Dr Vinay Kumar Ph.D. (IISc), FNASc. Date of birth: 1 March 1969. Specialization: Molecular & Cellular Biology, Cell Signalling, Cell Biology Address: National Institute of Immunology, Aruna Asaf Ali Marg, New Delhi 110 067, U.T.; Contact ...

  8. Panda, Dr Subrat Kumar

    Indian Academy of Sciences (India)

    Panda, Dr Subrat Kumar M.B.B.S. (Utkal), M.D. (Path.) (AIIMS), FNA. Date of birth: 18 November 1954. Specialization: Liver Pathology, Viral Hepatitis and Molecular Biology/Virology Address: Professor, Department of Pathology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110 029, U.T.. Contact:

  9. Basu, Dr Sandip Kumar

    Indian Academy of Sciences (India)

    Fellow Profile. Elected: 1992 Section: General Biology. Basu, Dr Sandip Kumar Ph.D. (Calcutta), FNASc, FNA, FTWAS Council Service: 1995-97. Date of birth: 1 January 1944. Specialization: Cell Biology, Molecular Biology and Microbial Genetics Address: FD-426, Sector 3, Bidhan Nagar, Kolkata 700 106, W.B.. Contact:

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

    Directory of Open Access Journals (Sweden)

    Ashraf Soliman

    2014-01-01

    Full Text Available Introduction: There is still controversy for priming with sex steroid before growth hormone (GH testing. Objective: We studied GH response to stimulation in 92 children >9 years with idiopathic short stature (height standard deviation score [HtSDS]-2. They were divided randomly into two groups. Children in Group 1 (n = 50 were primed with premarin in girls and testosterone in boys and those in Group 2 were not primed (n = 42. All children were tested using standard clonidine test and their serum insulin-like growth factor-I concentration (IGF-I. Additionally the growth and GH-IGF-I data of the two groups of children were compared with those for 32 short children (HtSDS 9 years. The peak GH response to clonidine provocation test did not differ before (n = 42 versus after 9 years (n = 32 of age. Conclusions: In this randomized study priming with sex steroids before GH testing did not significantly increase the yield of diagnosing short patients with normal GH secretion. In addition, GH response to provocation did not vary significantly between young (9 years short children.

  11. Constitutional growth delay pattern of growth in velo-cardio-facial syndrome: longitudinal follow up and final height of two cases.

    Science.gov (United States)

    Turan, Serap; Ozdemir, Nihal; Güran, Tülay; Akalın, Figen; Akçay, Teoman; Ayabakan, Canan; Yılmaz, Yüksel; Bereket, Abdullah

    2008-01-01

    We report two patients with velo-cardio-facial syndrome (VCFS) who were admitted to our pediatric endocrinology clinic because of short stature and followed longitudinally until attainment of final height. Both patients followed a growth pattern consistent with constitutional delay of puberty with normal and near normal final height. Case 2 also had partial growth hormone (GH) deficiency and severe short stature (height SDS -3.4 SDS), but showed spontaneous catch-up and ended up with a final height of -2 SDS. These cases suggest that short stature in children with VCFS is due to a pattern of growth similar to that observed in constitutional delay of growth and puberty.

  12. [Dr. Atanasije Puljo: pioneer of Serbian dentistry].

    Science.gov (United States)

    Jovananović, Svetlana; Milovanović, Srdjan; Zagradjanin, Danica; Milovanović, Nebojša; Puzović, Dragana

    2012-01-01

    This paper describes the life and work of Dr. Atanasije Puljo (1878-1944). He was a volunteer in the Balkan wars, an active participant in the First World War; he was the first who noted the importance of team-work of a dentist and a surgeon in the care of jaw and facial injuries. He established primacy in this field, as he came up with this brilliant idea three years before other colleagues. His method of treatment of the upper jaw neglected fractures, called the Balkan method, was recognized worldwide. Dr. Puljo is the pioneer of dental radiology in Serbia, founder of the Odontology Clinic of the Medical Faculty and main supporter of the establishment of the School of Dentistry. Merits of Dr. Atanasije Puljo, medical practitioner with a broad knowledge in different fields, remain within the academic institution that was founded by this pioneer of dentistry in Serbia.

  13. How Dr. Pierce Promoted Himself

    Data.gov (United States)

    Department of the Interior — This article is about Dr. Raymond V Pierce who owned St. Vincent Island before it became a refuge. The doctor painted advertisements for his famous “Woman’s Tonic”...

  14. Growth hormone treatment in 35 prepubertal children with achondroplasia

    DEFF Research Database (Denmark)

    Hertel, Niels Thomas; Eklöf, Ole; Ivarsson, Sten

    2005-01-01

    BACKGROUND: Achondroplasia is a skeletal dysplasia with extreme, disproportionate, short stature. AIM: In a 5-y growth hormone (GH) treatment study including 1 y without treatment, we investigated growth and body proportion response in 35 children with achondroplasia. METHODS: Patients were rando...... treatment of children with achondroplasia improves height during 4 y of therapy without adverse effect on trunk-leg disproportion. The short-term effect is comparable to that reported in Turner and Noonan syndrome and in idiopathic short stature.......BACKGROUND: Achondroplasia is a skeletal dysplasia with extreme, disproportionate, short stature. AIM: In a 5-y growth hormone (GH) treatment study including 1 y without treatment, we investigated growth and body proportion response in 35 children with achondroplasia. METHODS: Patients were...

  15. Early onset of diabetes in the proband is the major determinant of risk in HLA DR3-DQ2/DR4-DQ8 siblings.

    Science.gov (United States)

    Gillespie, Kathleen M; Aitken, Rachel J; Wilson, Isabel; Williams, Alistair J K; Bingley, Polly J

    2014-03-01

    Islet autoimmunity is initiated in infancy, and primary prevention trials require children at high genetic risk to be identified before autoantibodies appear. To inform screening strategies, we evaluated risks of autoimmunity and diabetes associated with HLA DR3-DQ2/DR4-DQ8 in U.K. families. Extended HLA haplotypes were determined in 2,134 siblings from the Bart's-Oxford Study followed to a median age of 22 years. Risks of diabetes and islet autoimmunity (more than two antibodies) were estimated by survival analysis. Of 138 informative DR3-DQ2/DR4-DQ8 siblings, 63% shared both haplotypes with their diabetic proband, 29% shared one, and 8% shared neither. In HLA-identical DR3-DQ2/DR4-DQ8 siblings, the cumulative risk of diabetes by age 15 was 17% (vs. 6% in those sharing one haplotype or none; P = 0.095). Risk varied, however, with the age at the onset of diabetes in the proband; the cumulative risk of autoimmunity and/or diabetes by age 15 was 61% in siblings of probands diagnosed when younger than 10 years old compared with only 4.7% in those diagnosed after age 10 years (P sibling risk. This suggests that non-HLA genes or epigenetic/environmental factors that accelerate the progression of type 1 diabetes in the proband strongly affect risk in siblings.

  16. Should pediatric patients wait for HLA-DR-matched renal transplants?

    Science.gov (United States)

    Gritsch, H A; Veale, J L; Leichtman, A B; Guidinger, M K; Magee, J C; McDonald, R A; Harmon, W E; Delmonico, F L; Ettenger, R B; Cecka, J M

    2008-10-01

    Graft survival rates from deceased donors aged 35 years or less among all primary pediatric kidney transplant recipients in the United States between 1996 and 2004 were retrospectively examined to determine the effect of HLA-DR mismatches on graft survival. Zero HLA-DR-mismatched kidneys had statistically comparable 5-year graft survival (71%), to 1-DR-mismatched kidneys (69%) and 2-DR-mismatched kidneys (71%). When compared to donors less than 35 years of age, the relative rate of allograft failure was 1.32 (p = 0.0326) for donor age greater than or equal to age 35. There was no statistical increase in the odds of developing a panel-reactive antibody (PRA) greater than 30% at the time of second waitlisting, based upon the degree of HLA-A, -B or -DR mismatch of the first transplant, nor was there a 'dose effect' when more HLA antigens were mismatched between the donor and recipient. Therefore, pediatric transplant programs should utilize the recently implemented Organ Procurement and Transplantation Network's (OPTN)allocation policy, which prioritizes pediatric recipients to receive kidneys from deceased donors less than 35 years of age, and should not turn down such kidney offers to wait for a better HLA-DR-matched kidney.

  17. Prof dr FJ van Zyl as mens, kerkman en godsdiensfilosoof

    Directory of Open Access Journals (Sweden)

    P. J. van der Merwe

    1989-01-01

    Full Text Available Prof Dr FJ van Zyl as person, church personality and philosopher of religion Professor Francois Jacobus van Zyl (1913-05-06 - served as Head of the Department of Science of Religion and Missiology, Faculty of Theology (Section: Nederduitsch Hervormde Kerk, University of Pretoria, during the period 1960-1978. This article (written by a former student of his and present Head of the same Department contains a short biography, a discussion of his views on Theology, Science of Religion and Philosophy of Religion, and a bibliography. He is portrayed as a theologian with Barthian convictions, while been influenced by Emil Brunner and to a lesser extent by Hendrik Kraemer also. His primary audience was the Nederduitsch Hervormde Kerk and his theological activities (especially in the period 1960-1983 must be seen in relation to his influential role in same church.

  18. Dr. David Sawyer, Mickey Mouse and Dr. David Brown attend a ceremony at Ronald McNair Middle School

    Science.gov (United States)

    1999-01-01

    Dr. David Sawyer (left), Superintendent of the Brevard County School District, Mickey Mouse, and Dr. David Brown, a NASA astronaut, attend a tribute to NASA astronaut Ronald McNair held in the gymnasium of Ronald McNair Magnet School in Cocoa, Fla. During the tribute, Walt Disney World presented a portrait of McNair to the school, which had previously been renamed for the fallen astronaut. McNair was one of a crew of seven who lost their lives during an accident following launch of the Space Shuttle Challenger in January 1986.

  19. Sirsat, Dr Satyavati Motiram

    Indian Academy of Sciences (India)

    Sirsat, Dr Satyavati Motiram Ph.D. (Mumbai). Date of birth: 7 October 1925. Date of death: 10 July 2010. Specialization: Medical Research (Cancer) & Ultrastructural Pathology and Hospice Care of the Dying Last known address: Bhagirathi Sadan, 17th Road, Khar, Mumbai 400 052. YouTube · Twitter · Facebook · Blog ...

  20. David, Dr Joy Caesarina

    Indian Academy of Sciences (India)

    Home; Fellowship. Fellow Profile. Elected: 1982 Section: Medicine. David, Dr Joy Caesarina M.B.B.S., M.S. (Madras). Date of birth: 3 May 1927. Date of death: 20 April 2004. Specialization: Neuropharmacology Last known address: 292, 4th Main, 1st Block, Koramangala, Bengaluru 560 034. YouTube; Twitter; Facebook ...

  1. Dr. Mostafa Moin, Minister of Science, Research and Technology, Islamic Republic of Iran

    CERN Multimedia

    Patrice Loïez

    2001-01-01

    L. to. r.:Dr Henrik Foeth, Team Leader, CMS experiment; Dr Daniel Denegri, Physics Coordinator, CMS experiment; Prof. Tejinder Virdee, Deputy Spokesman, CMS experiment; Prof. Luciano Maiani, CERN Director-General (signing); Mr Jean-Marie Dufour, Head of the Legal Service, Mr Ghodratollah Habibpour Gharakol (back); Dr Abdolali Sharghi, Advisor to the Minister and Director General, Office of International Scientific Cooperation, Ministry of Science, Research and Technology; Dr Mostafa Moin, Minister of Science, Research and Technology, Islamic Republic of Iran (signing); Dr Reza Mansouri, Director, International Scientific Meetings Office, Ministry of Science, Research and Technology; H. E. Dr Ali Khorram, Extraordinary and plenipotentiary Ambassador to the United Nations in Geneva and Dr Hans F. Hoffmann, CERN Director for Technology Transfer & for Scientific Computing. _

  2. Abd-Allah, Dr. Adel-Gamil

    African Journals Online (AJOL)

    Abd-Allah, Dr. Adel-Gamil. Vol 12, No 4 (2000) - Articles CORRELATION BETWEEN UTERINE ARTERY FLOW VELOCITY WAVEFORMS AND ENDOMETRIAL HISTOPATHOLOGY IN WOMEN WITH PERIMENOPAUSAL AND POSTMENOPAUSAL BLEEDING. Details. ISSN: 1110-5607. AJOL African Journals Online.

  3. Researcher Profile: An Interview With Dr. Rebecca J. Travnichek

    Directory of Open Access Journals (Sweden)

    Rebecca J. Travnichek

    2011-04-01

    Full Text Available

    Dr. Rebecca Travnichek is a Family Financial Education Specialist with University of Missouri Extension. Dr. Travnichek currently serves as the Annual Conference Program Chair. She is also very active in the Association for Financial Counseling and Planning Education, where she serves on the Board of Directors. Dr. Travnichek has participated in leadership development programs at the state and national levels. She was involved in the initial proposal development of the Financial Security for All Community of Practice with eXtension and continues to be involved through several roles. She is active in the National Extension Association of Family and Consumer Sciences at the national and state levels, serving in multiple leadership roles. For the past three years, Dr. Travnichek has also served as the Editor of the Journal of the National Extension Association of Family and Consumer Sciences. She represents the type of person who makes the Financial Therapy Association a dynamic organization linking practitioners and academicians.

  4. The research contributions of Dr. Paul Van Deusen

    Science.gov (United States)

    Thomas B. Lynch; Francis A. Roesch; John Paul McTague; Jeffrey H. Gove; Gregory A. Reams; Aaron R. Weiskittel

    2015-01-01

    Dr. Paul Van Deusen’s recent passing concluded a rich 30+-year research career dedicated to development and implementation of quantitative methods for forestry and natural resources. Since the early part of his career as a biometrician with the USDA Forest Service Southern Research Station in the 1980s-1990s and continuing with his later employment at NCASI, Dr. Van...

  5. An illustrative case of Léri-Weill dyschondrosteosis

    Directory of Open Access Journals (Sweden)

    Renata de Lima

    2008-01-01

    Full Text Available We report on a girl presenting Léri-Weill dyschondrosteosis (LWD due to deletion of the SHOX gene. Her family included individuals with short stature alone or with both short stature and mesomelia or Madelung's deformity. The deletion was demonstrated through detection of hemizygosity for microsatellite markers SHOX-CA repeat, DXYS10092, DXYS10093 and DXYS10091 localized around the SHOX gene, with retention of paternal alleles in the proband and three of her sisters who had short stature as the only clinical feature. Hemizygosity for these loci was also observed in their mother, who had short stature too. The deletion in the proband was however larger, including locus DXY10083. The proband's only sister with normal height did not carry the deletion. Family history suggests transmission of the deletion from the proband's maternal great-grandfather to her grandfather via the Y chromosome, and from the grandfather to the proband's mother via the X chromosome after crossing-over in the pseudoautosomal region proximal to the SHOX gene.

  6. The relationships between measures of stature recovery, muscle activity and psychological factors in patients with chronic low back pain.

    Science.gov (United States)

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

    2012-02-01

    Individuals with low back pain (LBP) often exhibit elevated paraspinal muscle activity compared to asymptomatic controls during static postures such as standing. This hyperactivity has been associated with a delayed rate of stature recovery in individuals with mild LBP. This study aimed to explore this association further in a more clinically relevant population of NHS patients with LBP and to investigate if relationships exist with a number of psychological factors. Forty seven patients were recruited from waiting lists for physiotherapist-led rehabilitation programmes. Paraspinal muscle activity while standing was assessed via surface electromyogram (EMG) and stature recovery over a 40-min unloading period was measured on a precision stadiometer. Self-report of pain, disability, anxiety, depression, pain-related anxiety, fear of movement, self-efficacy and catastrophising were recorded. Correlations were found between muscle activity and both pain (r=0.48) and disability (r=0.43). Muscle activity was also correlated with self-efficacy (r=-0.45), depression (r=0.33), anxiety (r=0.31), pain-related anxiety (r=0.29) and catastrophising (r=0.29) and was a mediator between self-efficacy and pain. Pain was a mediator in the relationship between muscle activity and disability. Stature recovery was not found to be related to pain, disability, muscle activity or any of the psychological factors. The findings confirm the importance of muscle activity within LBP, in particular as a pathway by which psychological factors may impact on clinical outcome. The mediating role of muscle activity between psychological factors and pain suggests that interventions that are able to reduce muscle tension may be of particular benefit to patients demonstrating such characteristics, which may help in the targeting of treatment for LBP. Copyright © 2011 Elsevier Ltd. All rights reserved.

  7. China's Investment Leade Dr, Alyce Su

    Institute of Scientific and Technical Information of China (English)

    2010-01-01

    @@ I. Professional Background Dr. Alyce Su specializes in investment managemeng, managing portfolios consisted of investment opportunities originated from China's growth and internationalization, both'outbound and inbound.

  8. Value of HLA-DR genotype in systemic lupus erythematosus and lupus nephritis: a meta-analysis.

    Science.gov (United States)

    Niu, Zhili; Zhang, Pingan; Tong, Yongqing

    2015-01-01

    Human leukocyte antigen (HLA)-DRB1 allele polymorphisms have been reported to be associated with systemic lupus erythematosus (SLE) susceptibility, but the results of these previous studies have been inconsistent. The purpose of the present study was to systematically summarize and explore whether specific HLA-DRB1 alleles confer susceptibility or resistance to SLE and lupus nephritis. This review was guided by the preferred reporting items for systematic reviews and meta-analyses (PRISMA) approach. A comprehensive search was made for articles from PubMed, Medline, Elsevier Science, Springer Link and Cochrane Library database. A total of 25 case-control studies on the relationship between gene polymorphism of HLA-DRB l and SLE were performed and data were analyzed and processed using Review Manager 5.2 and Stata 11.0. At the allelic level, HLA-DR4, DR11 and DR14 were identified as protective factors for SLE (0.79 [0.69,0.91], P  0.05). DR4 and 11 (OR, 0.55 [0.39, 0.79], P  0.05; 0.90 [0.64, 1.27], P > 0.05; 0.61 [0.36, 1.03], P > 0.05, respectively) were not statistically significant between the lupus nephritis and control groups. The HLA-DR4, DR11, DR14 alleles might be protective factors for SLE and HLA-DR3, DR9, DR15 were potent risk factors. In addition, HLA-DR4 and DR11 alleles might be protective factors for lupus nephritis and DR3 and DR15 suggest a risk role. These results proved that HLA-DR3, DR15, DR4 and DR11 might be identified as predictors for lupus nephritis and SLE. © 2014 Asia Pacific League of Associations for Rheumatology and Wiley Publishing Asia Pty Ltd.

  9. Constitutional Growth Delay Pattern of Growth in Velo−Cardio−Facial Syndrome: Longitudinal follow up and final height of two cases

    Science.gov (United States)

    Özdemir, Nihal; Güran, Tülay; Akalın, Figen; Akçay, Teoman; Ayabakan, Canan; Yılmaz, Yüksel; Bereket, Abdullah

    2008-01-01

    We report two patients with velo−cardio−facial syndrome (VCFS) who were admitted to our pediatric endocrinology clinic because of short stature and followed longitudinally until attainment of final height. Both patients followed a growth pattern consistent with constitutional delay of puberty with normal and near normal final height. Case 2 also had partial growth hormone (GH) deficiency and severe short stature (height SDS −3.4 SDS), but showed spontaneous catch−up and ended up with a final height of −2 SDS. These cases suggest that short stature in children with VCFS is due to a pattern of growth similar to that observed in constitutional delay of growth and puberty. Conflict of interest:None declared. PMID:21318064

  10. Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation.

    Science.gov (United States)

    Capalbo, Donatella; Scala, Maria Giuseppa; Melis, Daniela; Minopoli, Giorgia; Improda, Nicola; Palamaro, Loredana; Pignata, Claudio; Salerno, Mariacarolina

    2012-09-20

    Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM #607721) has been recently related to the invariant c.4A > G missense change in SHOC2. It is characterized by features reminiscent of Noonan syndrome. Ectodermal involvement, short stature associated to growth hormone (GH) deficiency (GHD), and cognitive deficits are common features. We compare in two patients with molecularly confirmed NS/LAH diagnosis, the clinical phenotype and pathogenetic mechanism underlying short stature. In particular, while both the patients exhibited a severe short stature, GH/IGFI axis functional evaluation revealed a different pathogenetic alteration, suggesting in one patient an upstream alteration (typical GHD) and in the other one a peripheral GH insensitivity.

  11. Treating Cataracts: Dr. Rachel Bishop's Top Tips for Your Eyes

    Science.gov (United States)

    ... please turn JavaScript on. Feature: Treating Cataracts Dr. Rachel Bishop's Top Tips for Your Eyes Past Issues / ... exams, a healthy lifestyle, and eye protection. Dr. Rachel Bishop, chief of consult services at the National ...

  12. Remaining Sites Verification Package for 132-DR-1, 1608-DR Effluent Pumping Station. Attachment to Waste Site Reclassification Form 2005-035

    International Nuclear Information System (INIS)

    Carlson, R.A.

    2005-01-01

    Radiological characterization, decommissioning and demolition of the 132-DR-1 site, 1608-DR Effluent Pumping Station was performed in 1987. The current site conditions achieve the remedial action objectives and the corresponding remedial action goals established in the Remaining Sites ROD. Residual concentrations support future land uses that can be represented by a rural-residential scenario and pose no threat to groundwater or the Columbia River based on RESRAD modeling

  13. Does water stress, nutrient limitation, or H-toxicity explain the differential stature among Heath Forest types in Central Kalimantan, Indonesia?

    NARCIS (Netherlands)

    Vernimmen, R.R.E.; Bruijnzeel, L.A.; Proctor, J.; Verhoef, H.A.; Klomp, N.

    2013-01-01

    To investigate the causes of the reduced stature of heath forest compared to lowland evergreen rain forest (LERF), the quantity and quality of small litterfall (LF), the standing crop of litter on the forest floor (LSC), and the annual rates of litter decay were determined over a period of 12 months

  14. Sproglige drømmerier

    DEFF Research Database (Denmark)

    Farø, Ken Joensen

    2015-01-01

    blev tidligere brugt i Danmarks Radio som pausesignal, afspillet på en spilledåse. Ak ja, det var dengang. Gå ind på nettet og lyt til den, hvis du ikke kender melodien. Det er national kulturarv. Mange bevingede ord indeholder en form af ”drøm(me)”, fx Martin Luther Kings ”I have a Dream”. Eller...

  15. Dr. Praveen Chaudhari named director of Brookhaven National Laboratory

    CERN Multimedia

    2003-01-01

    "Brookhaven Science Associates announced today the selection of Dr. Praveen Chaudhari as Director of the U.S. Department of Energy's Brookhaven National Laboratory. Dr. Chaudhari, who will begin his new duties on April 1, joins Brookhaven Lab after 36 years of distinguished service at IBM as a scientist and senior manager of research" (1 page).

  16. [Analysis of clinical manifestations and genetic mutations in a child with Laron syndrome].

    Science.gov (United States)

    Chang, Guo-ying; Chen, Shao-ke; Gu, Xue-fan; Gong, Zhu-wen; Zhang, Qi-gang

    2013-12-01

    To analyze clinical manifestations and gene mutations in a child with severe short stature, explore its molecular mechanism and further clarify the diagnostic procedure for short stature. We observed clinical characteristics of a patient with short stature and did diagnostic examinations, assessed the function of GH-IGF-1 axis, and surveyed its family members.Genomic DNA was extracted from peripheral blood, GHR, IGFALS, STAT5b and GH1 gene were amplified by PCR for sequencing, including exons and splicing areas. The patient presented symmetrical short stature (height -8.2 SDS) and facial features, and other congenital abnormalities.It displayed non-growth hormone deficiency. The baseline value of GH was 21 µg/L, and the peak was 57.9 µg/L. The value of IGF-1 was less than 25 µg/L, and the IGFBP-3 less than 50 µg/L. And IGF-1 generation test showed no response. There was no similar patients in the family members.Sequencing of GHR in the patient revealed a homozygous point mutation (c.Ivs6+1G>A), and her father and mother had the same heterozygous mutation. The same mutation was not identified for her sister.No other candidate gene was found. As the result of combined clinical characteristics and lab examinations, as well as gene detection, the case was diagnosed with Laron syndrome and GHR gene mutation is the molecular mechanism.We should explicit the etiological diagnosis for short stature, and avoid missed diagnosis and misdiagnosis.

  17. Murty, Dr Thutupalli Gopala Krishna

    Indian Academy of Sciences (India)

    Elected: 2002 Section: Engineering & Technology. Murty, Dr Thutupalli Gopala Krishna Ph.D. (Adelaide). Date of birth: 11 February 1944. Specialization: Optical Engineering, Thin Film Technology, Electro-Optical Instrumentation and Atmospheric Science Technologies Address: 848, 8th B Main, 17th Cross, ISRO Layout, ...

  18. The Netted Humanitarian: Improving the Information and Communications Technology Assessment Process for Humanitarian Assistance/Disaster Relief (HA/DR) Missions

    Science.gov (United States)

    2013-03-01

    mode or with multiple hops. Wi-Fi clouds can create temporary Internet “ cafes ” in hospitals or field clinics, boat or helicopter landing zones, and key... preferred route to developing trust in an HA/DR mission, due to the need to quickly establish trusting inter- personal relationships in a very short...describes the situation in real-time. Therefore, the first responders must attempt the tedious and time- consuming task of compiling a COP from a

  19. 105-DR Large Sodium Fire Facility decontamination, sampling, and analysis plan

    International Nuclear Information System (INIS)

    Knaus, Z.C.

    1995-01-01

    This is the decontamination, sampling, and analysis plan for the closure activities at the 105-DR Large Sodium Fire Facility at Hanford Reservation. This document supports the 105-DR Large Sodium Fire Facility Closure Plan, DOE-RL-90-25. The 105-DR LSFF, which operated from about 1972 to 1986, was a research laboratory that occupied the former ventilation supply room on the southwest side of the 105-DR Reactor facility in the 100-D Area of the Hanford Site. The LSFF was established to investigate fire fighting and safety associated with alkali metal fires in the liquid metal fast breeder reactor facilities. The decontamination, sampling, and analysis plan identifies the decontamination procedures, sampling locations, any special handling requirements, quality control samples, required chemical analysis, and data validation needed to meet the requirements of the 105-DR Large Sodium Fire Facility Closure Plan in compliance with the Resource Conservation and Recovery Act

  20. Analyize manifestations of DR and CT of 20 cases of bronchioloalveolar carcinoma

    International Nuclear Information System (INIS)

    Yang Zhongcheng

    2006-01-01

    Objective: Exploring the characters and changing rules between DR chest fluoroscopy and CT of bronchioloalveolar carcinoma. Methods: Collecting 20 cases DR chest fluoroscopies and CT scanning results of bron-chioloalveolar carcinoma, proved by biopsy, to reviewing analysis. Results: Bronchioloalveolar carcinoma divided into 3 types, nodular type, diffused type, infiltrated type. Nodular type focuses congregate and fused into node, density of the nodular shadow bad-distributed, vesical low-density shadow showed; Diffused type focus, multiple diffused nodish shadow gradually fused into patech consolidated shadow;Infiltrated focus distributed to pulmonary segment or lobes,like common pneumonia feature, existed airobronchogram, CT contrast scan shows typical 'CT angiogram'. Conclusion: No matter which type: nodular, diffused or infiltrated type, whose DR chest fluoroscopy and CT exists some features: Nodular type, DR chest fluoroscopy shows focuses mostly in periphery of pulmonary, margin with burr and plueral sunken sign, and whose HRCT manifestationshows typical small vesical sign in mediastinal window; Diffused type, DR chest fluoroscopy shows multiple diffused granular nodish shadow, however, CT manifestation can find more multiple focus than DR chest fluoroscopy, typical manifestation of HRCT is extensive small nodular shadow, with the thicken lobular interal; Infiltrated focus: DR chest fluoroscopy shows pulmonary consolidation and airobronchogram, And CT manifestations are CT angiogram and low-density consolidation shadow, wth specific property. Master all types of manifestation of DR and CT of bronchioloalveolar carcinoma, can help you improve the diagnosis of bronchioloalveolar carcinoma. (authors)

  1. Limited field investigation report for the 100-DR-1 Operable Unit

    International Nuclear Information System (INIS)

    1994-06-01

    This limited field investigation (LFI) report summarizes the data collection and analysis activities conducted during the 100-DR-1 Source Operable Unite LFI and the associated qualitative risk assessment (QRA), and makes recommendations on the continued candidacy of high-priority sites for interim remedial measures (IRM). The results and recommendations presented in this report are generally independent of future land use scenarios. The 100-DR-1 Operable Unit is one of four operable units associated with the 100 D/DR Area at the Hanford Site. The 100-DR-1 Operable Unit encompasses approximately 1.5 km 2 (0.59 mi 2 ) and is located immediately adjacent to the Columbia River shoreline. In general, it contains waste facilities associated with the original plant facilities constructed to support D Reactor facilities, as well as cooling water retention basin systems for both D and DR Reactors. The 100-DR-1 LFI began the investigative phase of the remedial investigation for a select number of high-priority sites. The LFI was performed to provide additional data needed to support selection, design and implementation of IRM, if needed. The LFI included data compilation, nonintrusive investigations, intrusive investigations, summarization of 100 Area aggregate studies, and data evaluation

  2. 105-DR large sodium fire facility closure Plan. Revision 2

    International Nuclear Information System (INIS)

    Ruck, F.A. III.

    1995-03-01

    The 105-DR Large Sodium Fire Facility (LSFF), which was operated 1972-1986, was a research laboratory that occupied the former ventilation supply room on the SW side of the 105-DR Reactor Facility. (The 105-DR defense reactor was shut down in 1964.) LSFF was used to investigate fire and safety aspects of large sodium or other metal alkali fires in the LMFBR facilities; it was also used to store and treat alkali metal waste. This closure plan presents a description of the unit, the history of the waste managed, and the procedures that will be followed to close the LSFF as an Alkali Metal Treatment Facility. No future use of LSFF is expected. It is located within the 100-DR-2 (source) and 100-HR-3 (groundwater) operable units, which will be addressed through the RCRA facility investigation/corrective measures study process

  3. DR AVRAM JOZEF VINAVER (1862-1915) - PIONEER OF RADIOLOGY IN SERBIA.

    Science.gov (United States)

    Babić, Rade Radomir; Stanković Babić, Gordana

    2015-01-01

    Dr Abraham Joseph Vinaver (1862-1915), a Jew from Poland, was a pioneer of radiology in Serbia. He graduated from the Faculty of Medicine in Warsaw (1887), but lived and worked in abac (the Kingdom of Serbia) since 1890. Dr Abraham Joseph Vinarev - Career Development. He procured the first X-ray machine and developed radiological service in Sabac five years after the discovery of X-rays. These were the beginnings of radiology in Serbia. He introduced the application of artesian wells. Dr Abraham Joseph Vinarev - a Participant at the First Congress of Serbian Physicians and Naturalists, Belgrade 1904. "The diagnostic importance of X-rays in lung disease, especially in initial tuberculosis" and "Five Years of Treatment by X-Ray Machines" were the first works in the field of radiology in Serbia by this author. Dr Abraham Joseph Vinaver - Reserve Medical Officer in the Serbian Army. During the Balkan Wars, he was a volunteer with the rank of major engaged in military corps and he participated in the First World War as well. He died of malaria in 1915 in Gevgelija. "Dr Avram Vinaver"- Stanislav Vinarev. His dedication to work during the typhus epidemics was put into verses of a poem by his son Stanislav Vinarev. Dr Avram Vinaver Joseph was a noble man with a great heart, who selflessly sacrificed himself for the Serbian people and Serbia. He gave his contribution to the development of health services in Serbia, both in peacetime and wartime conditions. Dr Abraham Joseph Vinaver laid the foundations for today's radiology in Serbia.

  4. Interview with Smithsonian NASM Spacesuit Curator Dr. Cathleen Lewis

    Science.gov (United States)

    Lewis, Cathleen; Wright, Rebecca

    2012-01-01

    Dr. Cathleen Lewis was interviewed by Rebecca Wright during the presentation of an "Interview with Smithsonian NASM Spacesuit Curator Dr. Cathleen Lewis" on May 14, 2012. Topics included the care, size, and history of the spacesuit collection at the Smithsonian and the recent move to the state-of-the-art permanent storage facility at the Udvar-Hazy facility in Virginia.

  5. The future of nursing: how important is discipline-specific knowledge? A conversation with Jacqueline Fawcett. Interview by Dr. Janie Butts and Dr. Karen Rich.

    Science.gov (United States)

    Fawcett, Jacqueline

    2012-04-01

    Nurses have long attempted to secure a unique identity for the profession. Many scholars are now promoting an interdisciplinary framework for nursing practice. Fawcett is convinced that interdisciplinary practice poses a danger for nursing to lose its identity and that interdisciplinary practice cannot be successful if members of each discipline do not understand the conceptual models, practice, and research of their own discipline. Dr. Janie Butts and Dr. Karen Rich interviewed Dr. Jacqueline Fawcett about her views related to discipline-specific knowledge and nursing's future. The authors conclude that Fawcett's scientific foundation gives nursing the solidarity and power necessary to determine the unique internal goods of its practice.

  6. The use of bone age in clinical practice - Part 1

    DEFF Research Database (Denmark)

    Martin, D.D.; Caliebe, J.; Binder, Gitte Sommer

    2011-01-01

    addressed in part 2). Various manual and automatic methods of BA assessment have been developed. Healthy tall children tend to have advanced BA and healthy short children tend to have delayed BA in comparison to chronological age. Growth hormone (GH) treatment of children with GH deficiency leads to a catch......This review examines the role of skeletal maturity ('bone age', BA) assessment in clinical practice. BA is mainly used in children with the following conditions: short stature (addressed in part 1 of this review), tall stature, early or late puberty, and congenital adrenal hyperplasia (all...... of the growth plate to sex steroids, thus further impairing adult height. The assessment of BA provides an important contribution to the diagnostic workup and management of children with short stature....

  7. Data quality objectives summary report for the 100-BC-1, 100-BC-2, and 100-DR-1, and 100-DR-2 group 3 waste sites

    International Nuclear Information System (INIS)

    1997-03-01

    The 100-BC-1, 100-BC-2, 100-DR-1, and 100-DR-2 Group 3 waste sites contain 22 past-practice liquid waste disposal sites and process effluent piping associated with four plutonium-production nuclear reactors that operated from 1944 to 1967. The 100-BC-1, 100-BC-2, 100-DR-1, and 100-DR-2 Group 3 waste sites are the third set of Hanford 100 Area sites to undergo remediation to the extent practicable. Like the sites listed in Groups 1 and 2, the Group 3 sites are considered high-priority because of the contaminants present and their proximity to the Columbia River. Remediation of the 100-BC-1, 100-HR-1 and 100-DR-1 radioactive liquid waste sites is planned to occur in two phases: The first phase, which has been completed, was a demonstration project in the 100-B/C Area to test field techniques and acquire contamination data. The second phase is full-scale remediation of all the reactor areas, starting in the 10-B/C Area, using the field experience gained in the first phase and each subsequent reactor area remediation. This document provides the DQO in support of remediation sampling and analysis at selected sites in the 100-B/C and 100-D Areas

  8. DR. MIKA MAJALE MEMORIAL LECTURE

    African Journals Online (AJOL)

    He had four children Irene Majale,. Prof. Mike Majale (Architect) Victoria Majale Ojiambo and Chris Majale. Dr. Majale died on 21st April 1978. As an orthopaedic Surgeon he worked at Kenyatta. National Hospital (KNH), Kabete Orthopaedic Unit and. Armed Forces Memorial Hospital. He did not do any private practice.

  9. Ali, Dr Moizuddin Abdul Salim

    Indian Academy of Sciences (India)

    ... Section: Animal Sciences. Ali, Dr Moizuddin Abdul Salim D.Sc. (Andhra), D.Sc. (h.c.), FNA. Date of birth: 12 November 1896. Date of death: 20 June 1987. Specialization: Ecology, Zoogeography, Nature Conservation, Ornithology Last known address: No. 46, Pali Hill, Bombay 400 050. YouTube; Twitter; Facebook; Blog ...

  10. Efficacy and safety of short-term application of pranoprofen eye drops for senile patients with dry eyes

    Directory of Open Access Journals (Sweden)

    Yu-Chan Li

    2018-06-01

    Full Text Available AIM:To investigate the efficacy and safety of short-term application of pranoprofen eye drops in the treatment of dry eyes in senile patients. METHODS: Totally 100 elderly patients with dry eyes treated in our hospital from June 2016 to May 2017 were randomly divided into 2 groups. All cases were bilateral onset, and the right eyes were marked as the observation eyes. The 50 eyes in the observation group were treated with 1g/L pranoprofen eye drops combined with 1g/L sodium hyaluronate eye drops, while 50 in the control group were treated with 1g/L sodium hyaluronate eye drops. The results of Schirmer Ⅰ, ocular surface disease index(OSDI, break-up time(BUT, ocular surface staining(OSS, human leukocyte antigen-DR(HLA-DRand CD11b in conjunctival epithelial cells before and at 2wk after treatment, and adverse reactions in 2 groups were observed. RESULTS: Before treatment, results of Schirmer I, OSDI, BUT, OSS, HLA-DR and CD11b in the two groups were similar, there were no statistically significant differences(P>0.05. After treatment, OSDI, OSS, HLA-DR, CD11b significantly decreased, BUT significantly increased in both groups, the differences were statistically significant(PPPCONCLUSION: Short term application of pranoprofen eye drops can effectively enhance the efficacy in treating elderly patients with dry eyes, release clinical symptoms, and the therapeutic mechanism may be related to the inhibitory effect on HLA-DR.

  11. Separátory, sedimentační nádrže včetně funkce retenční nádrže Jeneweinova

    OpenAIRE

    Turic, Jakub

    2016-01-01

    Tato bakalářská práce se zabývá problematikou separátorů a sedimentačních nádrží, včetně funkce retenční nádrže Jeneweinova v Brně. Popisuje základní fyzikální a hydrodynamické vlastnosti vod a rozděluje její znečištění. Dále se zabývá popisem jednotlivých separačních a sedimentačních nádrží, jejich účel a využití. Zabývá se vznikem povodní a využití retenčních nádrží jako protipovodňové ochrany. Součástí práce je popis retenční nádrže Jeneweinova, její návrh, účel a funkce. The subject of...

  12. Raghavarao, Dr Karumanchi Srisaila Mallikarjuna S

    Indian Academy of Sciences (India)

    Elected: 2014 Section: Engineering & Technology. Raghavarao, Dr Karumanchi Srisaila Mallikarjuna S Ph.D. (Mumbai), FNAE, FNAAS. Specialization: Food Engineering, Biotechnology Address: Chief Scientist, Department of Food Engineering, Central Food Technological Research Institute, Mysore 570 020, Karnataka

  13. Dr. John Marburger visits DESY

    CERN Multimedia

    2003-01-01

    Dr. John Marburger, Director of the United States Office of Science and Technology Policy, visited the research center DESY in Hamburg. The American physicist wanted to inform himself about the status of the TESLA X-ray laser and the TESLA linear collider as well as the international collaboration at DESY (1/2 page).

  14. Den europæiske drøm - om EU

    DEFF Research Database (Denmark)

    Østergaard, Uffe

    2007-01-01

    Anmeldelse af: Jeremy Rifkin: Den europæiske drøm (Informations Forlag, 2006). Oversat fra engelsk efter: "The European Dream: How Europe's Vision of the Future Is Quietly Eclipsing the American Dream" (2004)......Anmeldelse af: Jeremy Rifkin: Den europæiske drøm (Informations Forlag, 2006). Oversat fra engelsk efter: "The European Dream: How Europe's Vision of the Future Is Quietly Eclipsing the American Dream" (2004)...

  15. Dr. David Syz, State Secretary for Economic Affairs, Switzerland

    CERN Multimedia

    Maximilien Brice

    2003-01-01

    Dr. David Syz, State Secretary for Economic Affairs, Switzerland is seen here (seventh from right) visiting the assembly hall for the ATLAS experiment during his recent visit to CERN. To his right is Dr. Peter Jenni (blue shirt), spokesperson for the ATLAS Collaboration. The horizontal metal cylinder behind the group is one of the eight vacuum vessels for the superconducting coils of the ATLAS barrel toroid magnet system.

  16. Celebrating the Life and Legacy of Dr. John Hope Franklin

    Science.gov (United States)

    Harris, Robert L., Jr.; Levering-Lewis, David; French, John D.; Wharton, Clifton R., Jr.

    2009-01-01

    Dr. John Hope Franklin chronicled the experiences of African-Americans like no one before him, forcing America to recognize Black history as American history. His contributions were innumerable and his impact was abiding. In celebration of his life and legacy, the authors profile the celebrated scholar and activist, Dr. John Hope Franklin.

  17. Dr Jacob van der Land, marine biologist extraordinary

    OpenAIRE

    Bruggen, van, A.C.

    2001-01-01

    This contribution is an attempt to sketch the life and works of Dr Jacob van der Land, curator of worms and chief marine biologist of the National Museum of Natural History, on the occasion of his official retirement. Born in 1935, Jacob van der Land read biology at Leiden University (1958-1964), where he obtained his Ph.D. in 1970 on a treatise on the Priapulida under the supervision of Prof. Dr L.D. Brongersma. In 1964 he was appointed curator of worms in the museum. Later on he took over l...

  18. The Honorable Dr Adolfo Urso, Vice Minister for Foreign Trade, "Viceministro delle Attivita' Produttive, Italia"

    CERN Multimedia

    Patrice Loïez

    2002-01-01

    Photo 01: The Honorable Dr Adolfo Urso, Deputy Minister for Productive Activities, Italy, visiting SM18 with (from l to r): Dr Roberto Saban, Technical Coordination and Planning, LHC machine; Prof. Luciano Maiani, CERN Director-General; Dr Mario Gerbino, Director General of the Ministry and Prof. Lucio Rossi, LHC Main Magnet and Superconductors (MMS) Group Leader. Photo 02: Prof. Luciano Maiani, CERN Director-General and The Honorable Dr Adolfo Urso, Deputy Minister for Productive Activities, Italy, in front of one of the LHC superconducting magnet in SM18. Photo 03 :In front of one of the LHC superconducting magnets - from left to right Dr Roberto Saban, Technical Coordination and Planning, LHC machine; The Honorable Dr Adolfo Urso, Deputy Minister for Productive Activities, Italy and Prof. Luciano Maiani, CERN Director-General. Photo 04: In the SM18 hall (from l. to r.) Prof. Luciano Maiani, CERN Director-General, The Honorable Dr Adolfo Urso, Deputy Minister for Productive Activities, Italy and Dr Mario Ge...

  19. An overview of the safety pharmacology career of Dr. C.R. Hassler.

    Science.gov (United States)

    Hawk, M A; Pugsley, M K; Vinci, T; Wallery, J; Hassler, C R; Hamlin, R L

    2017-09-01

    Each year the Safety Pharmacology Society (SPS) recognizes an investigator who has had a marked impact upon the discipline. The 2016 recipient of the SPS Distinguished Service Award (DSA) was Dr. Craig R. Hassler. Dr. Hassler is one of the founding members of the SPS and has been actively engaged in physiological research for over 46years. Dr. Hassler delivered a talk entitled "My 43Years at Battelle Memorial Institute" to meeting attendees. In this article an overview is provided of the illustrious career of Dr. Hassler along with an account of the numerous animal models that were developed at Battelle under his guidance over the years. Copyright © 2017 Elsevier Inc. All rights reserved.

  20. Influence of HLA-D/DR antigen disparity in CTL generation in vitro

    International Nuclear Information System (INIS)

    Johnsen, H.E.; Madsen, M.; Mossin, J.; Kristensen, T.

    1983-01-01

    This report describes the influence of HLA-D/-DR antigen disparity upon the level of cytotoxicity in allogeneic in vitro cultures. Allogeneic cultures, between unrelated HLA-D/-DR full house donors, tested in CML gave three different levels of cytotoxicity, termed weak, intermediate and strong cytotoxicity. HLA-D/-DR compatibility predicts weak cytotoxicity and two HLA-B antigen incompatibility predicts strong cytotoxicity. On the contrary, HLA-A antigens have no major influence upon the strength of cytotoxicity. Accepting that the MLC/CML reaction is an in vitro parallel to the in vivo transplantation of allogeneic tissue, the observations are in accordance with the results of HLA-D/-DR matching for graft survival in human renal transplantation. (author)

  1. Gaia DR1 documentation Chapter 6: Variability

    Science.gov (United States)

    Eyer, L.; Rimoldini, L.; Guy, L.; Holl, B.; Clementini, G.; Cuypers, J.; Mowlavi, N.; Lecoeur-Taïbi, I.; De Ridder, J.; Charnas, J.; Nienartowicz, K.

    2017-12-01

    This chapter describes the photometric variability processing of the Gaia DR1 data. Coordination Unit 7 is responsible for the variability analysis of over a billion celestial sources. In particular the definition, design, development, validation and provision of a software package for the data processing of photometrically variable objects. Data Processing Centre Geneva (DPCG) responsibilities cover all issues related to the computational part of the CU7 analysis. These span: hardware provisioning, including selection, deployment and optimisation of suitable hardware, choosing and developing software architecture, defining data and scientific workflows as well as operational activities such as configuration management, data import, time series reconstruction, storage and processing handling, visualisation and data export. CU7/DPCG is also responsible for interaction with other DPCs and CUs, software and programming training for the CU7 members, scientific software quality control and management of software and data lifecycle. Details about the specific data treatment steps of the Gaia DR1 data products are found in Eyer et al. (2017) and are not repeated here. The variability content of the Gaia DR1 focusses on a subsample of Cepheids and RR Lyrae stars around the South ecliptic pole, showcasing the performance of the Gaia photometry with respect to variable objects.

  2. Granice podmorskih prostora jadranskih država

    Directory of Open Access Journals (Sweden)

    Marina Vokić Žužul

    2015-09-01

    Full Text Available U ovome radu analiziraju se sve dosada utvrđene granice jadranskog podmorja kao i one koje tak valja utvrditi, posebice u svjetlu novih istraživanja njegovih prirodnih bogatstava. Uz Hrvatsku i Italiju, koje dijele najveći dio morskog dna i podzemlja u Jadranu, pravo na epikontinentski pojas imaju i Crna Gora te Albanija. Dvije jadranske države s kratkim obalama – Bosna i Hercegovina te Slovenija, države su u nepovoljnome geografskom položaju koje ne mogu imati epikontinentski pojas kao prirodni produžetak svoga kopnenog područja. Podmorski prostori tih država završavaju stoga na vanjskoj granici njihovih teritorijalnih mora. Osim razmatranja tih granica i sporazumno utvrđenih granica epikontinentskih pojaseva, autorice se kritički osvrću i na jednostrane akte Slovenije o proglašenju njezinoga epikontinentskog pojasa iz 2005. godine kao potpuno pravno neutemeljene akte. U središtu pozornosti ovoga rada je razmatranje granice koja dijeli podmorske prostore Hrvatske i Italije kao buduće granice dviju država i nad morskim dnom. Ta bi granična crta, u skladu s Konvencijom UN-a o pravu mora, trebala postati – jedinstvena morska granica njihovih epikontinentskih i gospodarskih pojaseva (odnosno ekološke zone Italije i zaštićenoga ekološko-ribolovnog pojasa Republike Hrvatske. Takva višefunkcionalna jedinstvena granična crta u najboljem je interesu pravne sigurnosti u svim načinima korištenja mora, a u međunarodnoj sudskoj i arbitražnoj praksi posljednjih desetljeća u potpunosti je zamijenila povlačenje različitih crta razgraničenja za više pojaseva u istome morskom prostoru. S obzirom na rezultate nedavno provedenih istraživanja potencijalnih nalazišta nafte i plina u južnom Jadranu, u radu se upozorava i na potrebu što skorijeg povlačenja crte bočnog razgraničenja epikontinentskih pojaseva Hrvatske i Crne Gore. Autorice analiziraju moguće pravce te nove granice, uzimajući u obzir znatno odstupanje od

  3. Adipose gene expression response of lean and obese mice to short-term dietary restriction.

    NARCIS (Netherlands)

    Schothorst, Evert M van; Keijer, Jaap; Pennings, Jeroen L A; Opperhuizen, Antoon; Brom, Charissa E van den; Kohl, Thomas; Franssen-van Hal, Nicole L W; Hoebee, Barbara

    2006-01-01

    Overweight and obesity lead to higher morbidity risks, which are alleviated even by mild weight loss. To gain insight in the molecular effects of weight loss in adipose tissue, we analyzed the effects of short-term dietary restriction (DR) on mice fed a low-fat diet (lean mice) or a high-fat diet

  4. Paraplegia in a thalassaemic patient with short stature.

    Science.gov (United States)

    Campisi, Saveria; Mangiagli, Antonino; De Sanctis, Vincenzo; Giovannini, Michela

    2011-03-01

    Extramedullary hematopoiesis (EMH) is a normal compensatory reaction that occurs in almost all chronic hemolytic anemia, especially in transfusion independent thalassemia intermedia, and can involve many organs or tissues, including the epidural space leading to spinal cord compression syndrome. We present a case of EMH in a 29 year old woman with thalassemia major, regularly transfused since the time of diagnosis (age 21 months), who presented with sudden muscle weakness, difficulty walking and maintaining the upright position. Magnetic Resonance Imaging (MRI) of the thoracic spine showed spinal cord compression secondary to extramedullary hematopoiesis in the spinal canal, leading to early therapy. The neurosurgical treatment (decompressive laminectomy D3-D6) in our patient brought a significant and rapid recovery. The next two MRI of the spine (after 6 and 18 months) were both negative for recurrence.

  5. Evaluasi Fungsi Insinerator Dalam Memusnahkan Limbah B3 Di Rumah Sakit NI Dr.Ramelan Surabaya

    Directory of Open Access Journals (Sweden)

    Jahn Leonard Saragih

    2013-09-01

    Full Text Available Pengelolaan limbah padat B3 di Rumah Sakit TNI Angkatan Laut Dr. Ramelan sangat penting diperhatikan karena dapat berdampak buruk apabila tidak dikelola dengan baik. Oleh sebab itu diperlukan adanya penelitian untuk mengidentifikasi jumlah timbulan dan penanganan limbah padat B3, mengevaluasi manajemen, penyimpanan sementara serta mengevaluasi proses insinerasi. Evaluasi fungsi incinerator di Rumah Sakit TNI Angkatan Laut Dr. Ramelan dilakukan dengan meneliti jumlah timbulan limbah B3, kapasitas pembakaran insinerator, suhu pembakaran insinerator, densitas limbah dan abu pembakaran, dan tes TCLP residu pembakaran incinerator Rumah Sakit TNI Angkatan Laut Dr. Ramelan. Dalam penelitian ini, Rumkital Dr. Ramelan memusnahkan limbah dengan incinerator. Limbah B3 yang dihasilkan Rumkital Dr. Ramelan dimusnakan dengan satu incinerator dengan type KAMINE TYPE BDR-INC 10. Limbah yang dimusnahkan di Rumkital Dr. Ramelan berasal dari Rumkital Dr. Ramelan dan Lantamal Perak. Setelah dilakukan penelitian langsung selama 14 hari berturut-turut, didapatkan bahwa rata-rata timbulan limbah B3 di Rumkital Dr. Ramelan adalah 89.98 Kg/hari dan dengan densitas rata-rata limbah ialah 166,67 kg/m3. Tinggat removal dari pembakaran limbah dengan incinerator di Rumah Sakit TNI Angkatan Laut Dr. Ramelan ialah 82,63%. Pengelolaan abu sisa incinerator Rumkital Dr. Ramelan belum sesuai dengan peraturan yang berlaku dan dari penelitian yang dilakukan yaitu pengujian kandungan abu incinerator, solidifikasi abu incinerator dengan perbandingan semen:abu adalah 1:3 dan uji TCLP, didapatkan bahwa limbah abu sisa insinerator Rumah Sakit TNI Angkatan Laut Dr. Ramelan Surabaya, dapat ditimbun pada landfill kategori I sesuai dengan Keputusan Kepala Bapedal No.4 Tahun 1995.

  6. Consensus statement on the diagnosis and treatment of children with idiopathic short stature: a summary of the Growth Hormone Research Society, the Lawson Wilkins Pediatric Endocrine Society, and the European Society for Paediatric Endocrinology Workshop.

    Science.gov (United States)

    Cohen, P; Rogol, A D; Deal, C L; Saenger, P; Reiter, E O; Ross, J L; Chernausek, S D; Savage, M O; Wit, J M

    2008-11-01

    Our objective was to summarize important advances in the management of children with idiopathic short stature (ISS). Participants were 32 invited leaders in the field. Evidence was obtained by extensive literature review and from clinical experience. Participants reviewed discussion summaries, voted, and reached a majority decision on each document section. ISS is defined auxologically by a height below -2 sd score (SDS) without findings of disease as evident by a complete evaluation by a pediatric endocrinologist including stimulated GH levels. Magnetic resonance imaging is not necessary in patients with ISS. ISS may be a risk factor for psychosocial problems, but true psychopathology is rare. In the United States and seven other countries, the regulatory authorities approved GH treatment (at doses up to 53 microg/kg.d) for children shorter than -2.25 SDS, whereas in other countries, lower cutoffs are proposed. Aromatase inhibition increases predicted adult height in males with ISS, but adult-height data are not available. Psychological counseling is worthwhile to consider instead of or as an adjunct to hormone treatment. The predicted height may be inaccurate and is not an absolute criterion for GH treatment decisions. The shorter the child, the more consideration should be given to GH. Successful first-year response to GH treatment includes an increase in height SDS of more than 0.3-0.5. The mean increase in adult height in children with ISS attributable to GH therapy (average duration of 4-7 yr) is 3.5-7.5 cm. Responses are highly variable. IGF-I levels may be helpful in assessing compliance and GH sensitivity; levels that are consistently elevated (>2.5 SDS) should prompt consideration of GH dose reduction. GH therapy for children with ISS has a similar safety profile to other GH indications.

  7. Decommissioning of DR 1, Final report

    Energy Technology Data Exchange (ETDEWEB)

    Lauridsen, Kurt

    2006-01-15

    The report describes the decommissioning activities carried out at the 2kW homogeneous reactor DR 1 at Risoe National Laboratory. The decommissioning work took place from summer 2004 until late autumn 2005. The components with the highest activity, the core vessel the recombiner and the piping and valves connected to these, were dismantled first by Danish Decommissioning's own technicians. Demolition of the control rod house and the biological shield as well as the removal of the floor in the reactor hall was carried out by an external demolition contractor. The building was emptied and left for other use. Clearance measurements of the building showed that radionuclide concentrations were everywhere below the clearance limit set by the Danish nuclear regulatory authorities. Furthermore, measurements on the surrounding area showed that there was no contamination that could be attributed to the operation and decommissioning of DR 1. (au)

  8. Decommissioning of DR 1, Final report

    International Nuclear Information System (INIS)

    Lauridsen, Kurt

    2006-01-01

    The report describes the decommissioning activities carried out at the 2kW homogeneous reactor DR 1 at Risoe National Laboratory. The decommissioning work took place from summer 2004 until late autumn 2005. The components with the highest activity, the core vessel the recombiner and the piping and valves connected to these, were dismantled first by Danish Decommissioning's own technicians. Demolition of the control rod house and the biological shield as well as the removal of the floor in the reactor hall was carried out by an external demolition contractor. The building was emptied and left for other use. Clearance measurements of the building showed that radionuclide concentrations were everywhere below the clearance limit set by the Danish nuclear regulatory authorities. Furthermore, measurements on the surrounding area showed that there was no contamination that could be attributed to the operation and decommissioning of DR 1. (au)

  9. Estimation of stature from hand and handprint measurements in Iban population in Sarawak, Malaysia and its applications in forensic investigation.

    Science.gov (United States)

    Zulkifly, Nuranis-Raihan; Wahab, Roswanira Abd; Layang, Elizabeth; Ismail, Dzulkiflee; Desa, Wan Nur Syuhaila Mat; Hisham, Salina; Mahat, Naji A

    2018-01-01

    Handprints and dismembered hands are commonly found during crime scene investigations and disaster victim identifications, respectively. It has been indicated that the accuracy of handprint and hand measurements for estimating stature maybe population specific. Since Iban is the largest ethnic population in Sarawak, Malaysia and because the application of anthropometry of hand and handprint within this population as well as other populations within the Southeast Asian countries remain unreported, this present study that investigated the reliability and accuracy of these two anthropometric aspects acquires forensic significance. Upon measuring the height, 21 measurements were recorded on each hand and the corresponding handprint of 50 male and 52 female consented adult Iban subjects. Using univariate statistics as well as simple and multiple regression analyses, interpretation of the measurements examined here was attempted. Results revealed that lengths of hand and handprint are the more reliable traits for estimating stature in both the male and female Iban subjects (p Sarawak that may prove useful for crime scene investigations and disaster victim identifications in Malaysia. Copyright © 2017 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

  10. Short wavelength automated perimetry can detect visual field changes in diabetic patients without retinopathy

    Directory of Open Access Journals (Sweden)

    Othman Ali Zico

    2014-01-01

    Full Text Available Purpose: The purpose of the following study is to compare short wave automated perimetry (SWAP versus standard automated perimetry (SAP for early detection of diabetic retinopathy (DR. Materials and Methods: A total of 40 diabetic patients, divided into group I without DR (20 patients = 40 eyes and group II with mild non-proliferative DR (20 patients = 40 eyes were included. They were tested with central 24-2 threshold test with both shortwave and SAP to compare sensitivity values and local visual field indices in both of them. A total of 20 healthy age and gender matched subjects were assessed as a control group. Results: Control group showed no differences between SWAP and SAP regarding mean deviation (MD, corrected pattern standard deviation (CPSD or short fluctuations (SF. In group I, MD showed significant more deflection in SWAP (−4.44 ± 2.02 dB compared to SAP (−0.96 ± 1.81 dB (P = 0.000002. However, CPSD and SF were not different between SWAP and SAP. In group II, MD and SF showed significantly different values in SWAP (−5.75 ± 3.11 dB and 2.0 ± 0.95 compared to SAP (−3.91 ± 2.87 dB and 2.86 ± 1.23 (P = 0.01 and 0.006 respectively. There are no differences regarding CPSD between SWAP and SAP. The SWAP technique was significantly more sensitive than SAP in patients without retinopathy (p, but no difference exists between the two techniques in patients with non-proliferative DR. Conclusion: The SWAP technique has a higher yield and efficacy to pick up abnormal findings in diabetic patients without overt retinopathy rather than patients with clinical retinopathy.

  11. Tun Dr. Mahathir’s Leadership Communication: The Confucian Perspective

    Directory of Open Access Journals (Sweden)

    Cheah Joyce Lynn-Sze

    2017-01-01

    Full Text Available Previous studies have provided valuable insights into the impact of culture on the concept of leadership communication. However, only a few studies that focused on exploring and understanding the values of Confucianism and its impact on the Chinese culture, especially in Malaysia. Thus, this study is among the first study to examine the leadership communication from the perspective of Confucianism towards the leadership of Dr. Mahathir from the perspective of the Chinese community in Malaysia. This study aims to assess the role of Confucian values in Dr. Mahathir’s leadership communication. This study interviewed 15 Chinese leaders. The findings reveal that three main Confucian values are relevant to Dr. Mahathir’s leadership communication. The Confucian values are Zhi (wisdom, Xin (trust and Xiao (filial piety. This study provides a new perspective on leadership communication from the context of cultural diversity in Malaysia which emphasizes on Confucian values.

  12. DR2DI: a powerful computational tool for predicting novel drug-disease associations

    Science.gov (United States)

    Lu, Lu; Yu, Hua

    2018-05-01

    Finding the new related candidate diseases for known drugs provides an effective method for fast-speed and low-risk drug development. However, experimental identification of drug-disease associations is expensive and time-consuming. This motivates the need for developing in silico computational methods that can infer true drug-disease pairs with high confidence. In this study, we presented a novel and powerful computational tool, DR2DI, for accurately uncovering the potential associations between drugs and diseases using high-dimensional and heterogeneous omics data as information sources. Based on a unified and extended similarity kernel framework, DR2DI inferred the unknown relationships between drugs and diseases using Regularized Kernel Classifier. Importantly, DR2DI employed a semi-supervised and global learning algorithm which can be applied to uncover the diseases (drugs) associated with known and novel drugs (diseases). In silico global validation experiments showed that DR2DI significantly outperforms recent two approaches for predicting drug-disease associations. Detailed case studies further demonstrated that the therapeutic indications and side effects of drugs predicted by DR2DI could be validated by existing database records and literature, suggesting that DR2DI can be served as a useful bioinformatic tool for identifying the potential drug-disease associations and guiding drug repositioning. Our software and comparison codes are freely available at https://github.com/huayu1111/DR2DI.

  13. DR2DI: a powerful computational tool for predicting novel drug-disease associations

    Science.gov (United States)

    Lu, Lu; Yu, Hua

    2018-04-01

    Finding the new related candidate diseases for known drugs provides an effective method for fast-speed and low-risk drug development. However, experimental identification of drug-disease associations is expensive and time-consuming. This motivates the need for developing in silico computational methods that can infer true drug-disease pairs with high confidence. In this study, we presented a novel and powerful computational tool, DR2DI, for accurately uncovering the potential associations between drugs and diseases using high-dimensional and heterogeneous omics data as information sources. Based on a unified and extended similarity kernel framework, DR2DI inferred the unknown relationships between drugs and diseases using Regularized Kernel Classifier. Importantly, DR2DI employed a semi-supervised and global learning algorithm which can be applied to uncover the diseases (drugs) associated with known and novel drugs (diseases). In silico global validation experiments showed that DR2DI significantly outperforms recent two approaches for predicting drug-disease associations. Detailed case studies further demonstrated that the therapeutic indications and side effects of drugs predicted by DR2DI could be validated by existing database records and literature, suggesting that DR2DI can be served as a useful bioinformatic tool for identifying the potential drug-disease associations and guiding drug repositioning. Our software and comparison codes are freely available at https://github.com/huayu1111/DR2DI.

  14. Confessions of a Dr Math tutor

    CSIR Research Space (South Africa)

    Butgereit, L

    2015-06-01

    Full Text Available Mathematics look different on a small 3-inch screen of an inexpensive cell phone when compared to a 3-meter whiteboard in a mathematics classroom. Dr Math uses cell phone or mobile data "chat" technologies to assist primary and secondary school...

  15. Stop words for “Dr Math”

    CSIR Research Space (South Africa)

    Butgereit, L

    2011-05-01

    Full Text Available “Dr Math” is a facility where primary and secondary school pupils can use MXit on their cell phones to get help with their mathematics homework. Pupils use an abbreviated “MXit lingo” leaving out most vowels and substituting various numerals...

  16. Study on image quality and dosage comparison of F/S system and DR system

    International Nuclear Information System (INIS)

    Kim, Sun Chil; Jung, Jae Eun

    2003-01-01

    Currently, many hospital are hastening to introduce digital radiography systems. This is a direct result of the intentions to improve medical services and to digitalized radiology information systems, and is also leading to the improvement of medical imaging technology. Throughout F/S system's long history, many people have researched the image quality and dosage concerning these systems, and as a result, huge improvements in the dosage of patients were possible. Similarly, I believe that DR systems need the same kind of effort. Of course, decreases in dosage that ignore image quality are unthinkable. The results of experiments conducted by five hospitals during a period of 3 months brought to us the conclusions listed below. Based on the comparison and analysis of the exposure control of F/S systems and DR systems, DR systems generally showed higher exposure control for parts of the phantom that became thicker, and the exposure control improved rapidly as the thickness increased. DR systems still proved to be somewhat deficient in resolution measurements compared to existing F/S systems. The image processing part of DR systems contributed much to these result. Under conditions used clinically, the dosage measurements of DR systems were generally higher regardless of region. According to the evaluation of image quality, DR systems showed a higher degree of satisfaction as the thickness of the region became thinner. As mentioned above and based on the mutual relationship experiments between the dosage and image quality of F/S systems and DR systems, research to increase the satisfaction of DR systems must be considered

  17. Association of leprosy with HLA-DR2 in a Southern Brazilian population

    Directory of Open Access Journals (Sweden)

    Visentainer J.E.L.

    1997-01-01

    Full Text Available The association between HLA specificities and leprosy was investigated in a Southern Brazilian population. One hundred and twenty-one patients and 147 controls were typed for HLA-A, B, Cw, DR and DQ. Patients were subdivided into the following subgroups, according to clinical, histological and immunological criteria: lepromatous (N = 55, tuberculoid (N = 32, dimorphous (N = 20, and indeterminate (N = 14. The frequencies of HLA specificities were compared between the total group of patients and controls, and between the same controls and each subgroup of patients. After correction of the probabilities, deviations were not significant, except for the DR2 specificity, which presented a frequency of 44.2% in the total group of patients and 56.3% in the subgroup of individuals with the tuberculoid form of the disease, compared to 23.3% in the controls. Stratified analysis showed that the increased DR2 frequency in the total group of patients was due to the subgroups with the tuberculoid and dimorphous forms. The relative risk of tuberculoid leprosy for DR2-positive individuals was 4.2, and the etiologic fraction of DR2 was 0.429. In conclusion, a positive association of the DR2 specificity with the tuberculoid form of leprosy, but not with the lepromatous, dimorphous, or indeterminate forms, was demonstrated in this Southern Brazilian population

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

    NARCIS (Netherlands)

    Visser-van Balen, J.; Geenen, R.; Kamp, G.A.; Huisman, J.; Wit, J.M.; Sinnema, G.

    2005-01-01

    Background Growth-enhancing hormone treatment is considered a possible intervention in short but otherwise healthy adolescents. Although height gain is an obvious measure for evaluating hormone treatment, this may not be the ultimate goal for the person, but rather a means to reach other goals such

  19. Portrait of Dr. Von Braun with Walt Disney, 1954.

    Science.gov (United States)

    1954-01-01

    Marshall Center Director Dr. Wernher Von Braun is pictured with Walt Disney during a visit to the Marshall Space Flight Center in 1954. In the 1950s, Dr. Von Braun while working in California on the Saturn project, also worked with Disney studios as a technical director in making three films about Space Exploration for television. Disney's tour of Marshall in 1965 was Von Braun's hope for a renewed public interest in the future of the Space Program at NASA.

  20. Dr. Lindberg's Legacy : Charting A New Course | NIH MedlinePlus the Magazine

    Science.gov (United States)

    ... more. Don also created the National Center for Biotechnology Information (NCBI). NCBI has been a focal point ... with Dr. Lindberg (right) and National Center for Biotechnology Information Director Dr. David Lipman (center) at a ...

  1. 2700-IJBCS-Article-Dr Matar Seck

    African Journals Online (AJOL)

    hp

    of Maytenus senegalensis in the management of sickle cell disease. © 2016 International ... En plus de l'anémie, la vaso-occlusion, résultant de la ... crises de douleur, de la fièvre et des douleurs ... vaso-occlusives dans la drépanocytose. Ces.

  2. Growth in indigenous and nonindigenous Chilean schoolchildren from 3 poverty strata.

    Science.gov (United States)

    Bustos, P; Amigo, H; Muñoz, S R; Martorell, R

    2001-10-01

    This study sought to determine whether the short stature of Mapuche children, an indigenous group in Chile, reflects poverty or genetic heritage and whether the international reference population, derived from studies of US children of mostly European origin, is appropriate for assessing growth failure in indigenous peoples of the Americas. The study assessed 768 schoolchildren of Mapuche and non-Mapuche ancestry, aged 6 to 9 years, living under conditions of extreme, medium, and low poverty. Growth retardation was strongly related to poverty in both ethnic groups. Within poverty levels, there were no significant differences in stature between ethnic groups, and in low-poverty areas in Santiago, the capital city, mean stature was only slightly less than in the reference population. Poverty, not ancestry, explains the short stature of Mapuche children, and use of the international reference to assess growth in this population is appropriate.

  3. Practitioner Profile: An Interview with Dr. Jerry Gale, LMFT

    Directory of Open Access Journals (Sweden)

    Jerry Gale

    2012-06-01

    Full Text Available Dr. Jerry Gale is an Associate Professor and the Clinical Director of the Marriage and Family Therapy Doctoral Program at the University of Georgia. He is a Licensed Marriage and Family Therapist and an approved supervisor of the American Association of Marriage and Family Therapists. He earned a B.A. from the University of Michigan, a MEd from the University of Arizona, and a Ph.D. from Texas Tech University. Over the course of his career, Dr. Gale has authored three books and over 60 articles and book chapters. He is a co-developer of a relational financial therapy approach that combines financial counseling with family therapy and has extensive training in clinical hypnosis, couples therapy, and family therapy, as well as mindfulness meditation. He is the recipient of the American Family Therapy Academy 2006 Outstanding Research Award. In addition to his work at the University of Georgia, Dr. Gale conducts therapy at Athens Associates for Counseling and Psychotherapy.

  4. Evo-devo of infantile and childhood growth.

    Science.gov (United States)

    Hochberg, Ze'ev; Albertsson-Wikland, Kerstin

    2008-07-01

    Human size is a tradeoff between the evolutionary advantages and disadvantages of being small or big. We now propose that adult size is determined to an important extent during transition from infancy to childhood. This transition is marked by a growth spurt. A delay in the transition has a lifelong impact on stature and is responsible for 44% of children with short stature in developed countries and many more in developing countries. Here, we present the data and theory of an evolutionary adaptive strategy of plasticity in the timing of transition from infancy into childhood to match the prevailing energy supply. We propose that humans have evolved to withstand energy crises by decreasing their body size, and that evolutionary short-term adaptations to energy crises trigger a predictive adaptive response that modify the transition into childhood, culminating in short stature.

  5. Same Phenotype in Children with Growth Hormone Deficiency and Resistance

    Science.gov (United States)

    Ioimo, Irene; Guarracino, Carmen; Meazza, Cristina; Domené, Horacio M.

    2018-01-01

    By definition, about 2.5% of children show a short stature due to several causes. Two clinical conditions are characterized by serum IGF-I low levels, idiopathic GH deficiency (IGHD), and GH insensitivity (GHI), and the phenotypic appearance of these patients may be very similar. We studied two children with short stature and similar phenotypes. The first case showed frontal bossing, doll face, acromicria, and truncal obesity, with a GH peak Laron syndrome was confirmed after the molecular analysis of the GH receptor (GHR) gene. IGHD type IA and Laron syndrome is characterized by opposite circulating levels of GH, while both have reduced levels of IGF-I, with an overlapping clinical phenotype, lacking the effects of IGF-I on cartilage. These classical cases show the importance of differential diagnosis in children with severe short stature. PMID:29850346

  6. 105-DR Large Sodium Fire Facility closure plan

    International Nuclear Information System (INIS)

    1993-05-01

    The Hanford Site, located northwest of the city of Richland, Washington, houses reactors, chemical-separation systems, and related facilities used for the production of special nuclear materials, and activities associated with nuclear energy development. The 105-DR Large Sodium Fire Facility (LSFF), which was in operation from about 1972 to 1986, was a research laboratory that occupied the former ventilation supply room on the southwest side of the 105-DR Reactor facility. The LSFF was established to provide a means of investigating fire and safety aspects associated with large sodium or other metal alkali fires in the liquid metal fast breeder reactor (LMFBR) facilities. The 105-DR Reactor facility was designed and built in the 1950's and is located in the 100-D Area of the Hanford Site. The building housed the 105-DR defense reactor, which was shut down in 1964. The LSFF was initially used only for engineering-scale alkali metal reaction studies. In addition, the Fusion Safety Support Studies program sponsored intermediate-size safety reaction tests in the LSFF with lithium and lithium lead compounds. The facility has also been used to store and treat alkali metal waste, therefore the LSFF is subject to the regulatory requirements for the storage and treatment of dangerous waste. Closure will be conducted pursuant to the requirements of the Washington Administrative Code (WAC) 173-303-610. This closure plan presents a description of the facility, the history of waste managed, and the procedures that will be followed to close the LSFF as an Alkali Metal Treatment Facility. No future use of the LSFF is expected

  7. Comparative study between rib imaging of DR dual energy subtraction technology and chest imaging

    International Nuclear Information System (INIS)

    Yu Jianming; Lei Ziqiao; Kong Xiangchuang

    2006-01-01

    Objective: To investigate the application value of DR dual energy subtraction technology in rib lesions. Methods: 200 patients were performed with chest DR dual energy subtraction, comparing the rib imaging between DR of thorax and chest imaging using ROC analysis. Results: Among the total of 200 patients, there are 50 cases of rib calcification, 7 cases of rib destruction, 22 cases of rib fracture. The calcification, destruction and fracture were displayed respectively by ribs below diaphragm and rib markings. The analytic parameter of rib imaging of DR dual energy subtraction Az is 0.9367, while that of rib imaging of chest Az is 0.6830. Conclusion: DR dual energy subtraction technology is superior to chest imaging in the displaying of rib lesion and ribs below diaphragm. (authors)

  8. Dr. Tulga Ersal at NSF Workshop Accessible Remote Testbeds ART'15

    Science.gov (United States)

    Event Archives Dr. Tulga Ersal at NSF Workshop Accessible Remote Testbeds ART'15 On November 12th, Dr Workshop on Accessible Remote Testbeds (ART'15) at Georgia Tech. From the event website: The rationale behind the ART'15 workshop is that remote-access testbeds could, if done right, significantly change how

  9. Non-target effects of the microbial control agents Pseudomonas fluorescens DR54 and Clonostachys rosea IK726 in soils cropped with barley followed by sugar beet: a greenhouse assessment

    DEFF Research Database (Denmark)

    Johansen, A.; Knudsen, I. M. B.; Binnerup, S. J.

    2005-01-01

    Non-target effects of a bacterial (Pseudomonas fluorescens DR54) and a fungal (Clonostachys rosea IK726) microbial control agent (MCA), on the indigenous microbiota in bulk soil and rhizosphere of barley, and subsequent a sugar beet crop, were studied in a greenhouse experiment. MCAs were...... introduced by seed and soil inoculation. Bulk and rhizosphere soils were sampled regularly during the growth of barley and sugar beet. The soils were assayed for the fate of MCAs and various features of the indigenous soil microbiota. At the end of the experiment (193 d), DR54 and IK726 had declined...... by a factor of 106 and 20, respectively, and DR54 showed a short-lasting growth increase in the sugar beet rhizosphere. In general, the non-target effects were small and transient. IK726 seemed to have general stimulating effects on soil enzyme activity and the soil microbiota, and resulted in a significant...

  10. Ectopic Neurohypophysis in Patient with Pituitary Dwarfism: A Case Report

    OpenAIRE

    İlhan Kılınç; Deniz Gökalp; Cihan Akgül Özmen

    2008-01-01

    Ectopic neurohypophysis is an anomaly of the Pituitary gland whichmay be associated with short stature due to Growth hormone deficiency.MRI is the modality of choice in diagnosing this condition. We present acase of pituitary dwarfism and ectopic neurohypophysis with clinical andradiological findings. 21 year-old male admitted with short stature. Allhormones, except prolactin, of anterior hypophysis were low. Bright spotwas ectopically located at level of median eminence on enhanced MRI ofhyp...

  11. Gaia: Mapping the Milky Way: The Scientific Promise of Gaia DR2

    Science.gov (United States)

    Walton, Nicholas; ESA Gaia, Data Processing and Analysis Consortium (DPAC)

    2018-06-01

    The ESA Gaia mission will release its first major all sky astrometric catalogue (Gaia DR2), of more than 1.3 billion stars in our Galaxy, on 25 April 2018.This presentation will provide an overview of the Gaia mission, focussing on the significant scientific potential of the Gaia DR2 release. This is based on 22 months of input data and allows for a full Gaia stand alone astrometric solution, including parallaxes and proper motions, of over 1.3 billion sources. The astrometric uncertainties in Gaia DR2 will be at the level of tens of micro-arcsec for sources Gproducts including the light curves of more than half a million variable stars, and the positions of more than thirteen thousand objects in our Solar System.Together with the Gaia DR2 data products and associated release documentation, a small number of performance verification papers, using Gaia DR2 data only to provide new insights into a number of key areas of Gaia science, will be published in a special edition of A&A. These will provide demonstrations of the scientific potential of the Gaia DR2 catalogue, and also highlight some of the issues and limitations involved in the use of the Gaia DR2 data.The Gaia mission and Gaia Data Releases are made possible through the dedication and expertise of the community scientists and engineers involved in the design, construction, and operation of Gaia (led by ESA) and the collaboration of some 450 scientists and software engineers responsible for the complex task of analysing the processed data (the DPAC). The role of both will be covered in the presentation.The presentation will conclude with a brief look ahead to the longer term Gaia data release schedule.

  12. Age, Sex and Stature Estimation from Footprint Dimensions

    Directory of Open Access Journals (Sweden)

    Paurbhi Singh

    2017-04-01

    Full Text Available Objectives: The present study was carried out to evaluate the utility and reliability of footprint dimensions in age, sex and stature determination in the North Indian population. Materials and Methods: This study was carried out using a sample of 400 people (146 female and 254 male aged 10-65 years in Uttar Pradesh, North Western state of India. Footprints of both feet were taken bilaterally, and thus a total of 800 prints were obtained. A cluster of 7 measurements were taken carefully with the help of a scientific scale ruler. Five measurements were length dimensions from the most anterior part of the toe (T1–T5 to the mid rear heel point and two were breadth dimensions from both left and right footprints: breadth at ball (BBAL, breadth at heel (BHEL and 2 indexes: heel-ball Index (HBI and footprint index (FPI. All data were analyzed statistically using Student’s t-test, regression coefficient and Pearson’s correlation for the estimation of sex on the basis of footprint dimensions. Results: The T1 in left footprints was greater than right footprints in males, while T1 and BBAL were both found to be greater in left footprints than right footprints in females. All the seven foot dimensions were higher in males than females. Conclusion: There were statistically significant differences observed in all footprint dimensions between the male and female footprints except LFPI, LHBI, and RHBI.

  13. Dr. Ding Hou 80 years young

    NARCIS (Netherlands)

    Baas, Pieter; Adema, Frits

    2001-01-01

    Eleven October 2001 is the 80th birthday of Dr. Ding Hou, much appreciated Honorary Staff Member of our Nationaal Herbarium Nederland. Time to reflect on the life and career of this modest but highly productive and talented botanist. Ding Hou was born in 1921 in Hsingkan, Kiangsi Province, China.

  14. Drømmefabrikken

    Directory of Open Access Journals (Sweden)

    Paulo Affonso Grisolli

    1994-09-01

    Full Text Available Som mangeårig producent af telenovelaer både i Brasilien og Portugal, kender Grisolli alle sider af telenovelaen: Novelaen som de fattiges drøm om rigdom og succes, novelaen som et redskab i TV-kanalernes kamp om seerne, som exportvare, som glansbillede under det brasillianske dik- tatur, som industriprodukt og som politisk igangsætter. I denne artikel be- skriver Grisolli sine erfaringer med gode og dårlige sider af telenovela- fascinationen i Latinamerika og præsenterer en ny genre, som er på vej frem i Brasilien, mini-serien. Artiklen er Grisollis foredrag på Folkekirkens Nødhjælps Konference om TV og Video i Latinamerika, november 1992.

  15. The life and contribution of Dr. Ronald Gitelman: a pioneer of modern chiropractic science.

    Science.gov (United States)

    Vernon, Howard

    2013-03-01

    The life and contribution to chiropractic science of Dr. Ronald Gitelman is reviewed. Sources for this article included review of the notes prepared by Dr. Joseph Keating in his "biography" of the Canadian Memorial Chiropractic College (CMCC); review of the important articles published by Dr. Gitelman; review of the important projects undertaken by him along with various colleagues; notes from reminiscences obtained from many of these colleagues and discussions with his family. Dr. Gitelman's academic career spanned from 1963 to the late 1980's. During that time, he made foundational contributions to the development of chiropractic science including: developing the Archives (1974), the first collection of scientific articles supporting chiropractic science (which was subsequently published as the Chiropractic Archives Research Collection (CRAC)); delivering one of the few chiropractic papers at the seminal NINCDS conference (1975) and, developing the collaboration between CMCC and Dr. Kirkaldy-Willis at the University of Saskatoon (1976). He practiced in Toronto from 1961 to 2007. Dr. Gitelman was a pioneer in the development of chiropractic science. He died on October 7, 2012.

  16. [Sexuality education on the Internet : From Dr. Sommer to Dr. Google].

    Science.gov (United States)

    Döring, Nicola

    2017-09-01

    Female and male adolescents in Germany are increasingly using the Internet to find information about sexuality and sexual health. This review paper summarizes what we know about the status quo of online sexuality education in Germany.Based on a systematic literature review including 40 papers from international, peer-reviewed journals spanning 2010-2017, this paper first describes different aspects of the sexuality-related online search behavior of adolescents: its prevalence, predictors, topics and contexts. One main finding is the fact that adolescents use a computer or smartphone to type their sexuality-related questions into the search engine Google or the search engine of the video platform YouTube.Based on 54 online searches, this paper subsequently presents the kind of sexuality-related online content adolescents find if they ask "Dr. Google" for sexual advice; a collection of 1236 authentic sexuality-related questions of adolescents was used for this analysis. It turned out that online sexuality education offered by leading professional organizations like the BZgA ("Bundeszentrale für gesundheitliche Aufklärung") or pro familia was nearly invisible, while numerous other providers of online sex education consistently appeared in the top Google search results. Among them were the "Dr. Sommer" team of the youth magazine Bravo; online healthcare and advice portals; online forums; the online encyclopedia Wikipedia and, above all, sex education channels on YouTube. In this paper, the latter are presented in more detail for the first time.The third part of the paper addresses the quality of online sexual education over four main areas of quality evaluation. The presentation of the status quo ends with some recommendations both for future research and for sexuality education in practice.

  17. Karakteristik Penderita Penyakit Jantung Bawaan pada Anak di RSUP Dr. M. Djamil Padang Periode Januari 2010 – Mei 2012

    Directory of Open Access Journals (Sweden)

    Nur Ain

    2015-09-01

    children, which are suffering from CHD in Dr. M. Djamil Hospital Padang from January 2010 - May 2012. The results of this study showed that majority of the patients were female (61.8%, and the majority of samples are at the age group of less than 1 year (56.4%. The most common of CHD was Tetralogy of Fallot (21.8%, and shortness of breath was the highest (50.9% symptom that had been found. A total of (34.5%patients had another congenital diseases, the most common nonsyndromic disease are anus atresia and omfalocele (22.2% respectively, and the most common syndromic disease is Down Syndrome (40%. Failure to thrive presents in 49.1% patients. The level of Hb in patient with cyanotic CHD is higher than the acyanotic CHD. The number of the surgery of CHD cases in children at Dr. M. Djamil Hospital Padang is 1.8%. There are variations in the characteristic of children with CHD in Dr. M. Djamil Hospital Padang. Keywords:  congenital heart disease, children, variation of characteristics

  18. Words of gratitude to Dr. Michel Huguet

    International Nuclear Information System (INIS)

    Yoshikawa, Masaji

    2003-01-01

    It is impossible for the Japanese fusion community, in particular for those associated with the ITER Project,to hear about the retirement of Dr. Michel Huguet without a great amount of gratitude, recollections, warm feelings, and the inevitable sadness. He was a first-generation ITER EDA person. Three months after the signing of the ITER EDA Agreement in July 1992, he arrived at the Naka Joint Work Site as Deputy Director of the ITER Central Team and Head of the site and he stayed for more than ten years. The Naka site was for design and technical co-ordination in the areas of magnets, plasma control and heating, plant systems, buildings, etc. Dr. Huguet was considered a highly qualified person to fill the position, since he had been successful as Deputy Director in similar areas in the JET Joint Undertaking. During the ITER EDA he co-ordinated the R and D activities in areas for which the Naka Joint Work Site was responsible. These R and D results permitted the completion of the ITER design in the above areas under his supervision. We thank Dr. Huguet for his achievements and contributions to ITER. He played a crucial role in establishing the convincing scientific and technical basis for ITER implementation. This was only made possible by his broad abilities and his dedication to the cause of fusion in general and ITER in particular

  19. HLA-DR-specific suppressor cells after repeated allogeneic sensitizations of human lymphocytes in vitro

    International Nuclear Information System (INIS)

    Sasportes, M.; Fradelizi, D.; Dausset, J.

    1978-01-01

    In conclusion, DR-specific suppressor cells can be induced by repeated in vitro sensitizations. They were able to decrease a secondary proliferation, to suppress consistently, in a primary proliferative assay, when added as third cells (primed twice against a DR antigen [PLT II] and γ-irradiated), the response of unprimed cells towards stimulating cells, which share a DR specificity with the priming cell of the PLT II. The suppression follows the D part of the recombinant haplotype within an HLA-B/D recombinant family and is specific for the DR antigen used twice as stimulator for production of the PLT II

  20. Dr. Francis Collins Is New NIH Director

    Science.gov (United States)

    ... Ph.D., a physician and geneticist, is the new Director of the National Institutes of Health (NIH), part of the U.S. Department of Health and Human Services. President Barack Obama nominated Dr. Collins, who served as Director of ...

  1. Wachstumsstörung bei SHOX-Defizienz // SHOX Deficiency Disorders

    Directory of Open Access Journals (Sweden)

    Steichen-Gersdorf E

    2016-01-01

    Full Text Available SHOX haploinsufficiency has been reported in some individuals with idiopathic short stature. The clinical phenotype covers the spectrum from idiopathic short stature, mesomelic short stature to Leri-Weill syndrome. The skeletal dysproportion increases from early childhood to adulthood. The phenotype is variable even within families. Growth hormone treatment increases height in patients with SHOX deficiency. p bKurzfassung:/b Die SHOX-Defizienz ist eine wesentliche Ursache für Kleinwuchs. Der klinische Schweregrad reicht vom idiopathischen Kleinwuchs bis zum Leri-Weill-Syndrom mit mesomelem Kleinwuchs und Madelung-Deformität. Eine zunehmende Störung der Körperproportionen mit mesomeler Verkürzung der Gliedmaßen wird erst im Schulalter evident. Der Phänotyp einer SHOX-Defizienz ist sehr variabel, auch innerhalb von Familien. Diese Form der Wachstumsstörung stellt eine anerkannte Indikation für eine Wachstumshormontherapie dar.

  2. In Memoriam Dr. J. H. Kern

    NARCIS (Netherlands)

    Kalkman, C.

    1974-01-01

    On 29 July 1974 dr. J. H. Kern died at the age of 70. At the occasion of his official retirement from the Rijksherbarium staff (January 1969) Van Steenis and Van Ooststroom gave due recognition to his achievements in tropical botany and to his share in the progress of the knowledge of the Dutch

  3. Extraintestinal Manifestations of Celiac Disease: Effectiveness of the Gluten-Free Diet.

    Science.gov (United States)

    Jericho, Hilary; Sansotta, Naire; Guandalini, Stefano

    2017-07-01

    The aim of the study was to evaluate the effectiveness of the gluten-free diet (GFD) on extraintestinal symptoms in pediatric and adult celiac populations at the University of Chicago. We conducted a retrospective chart review of the University of Chicago Celiac Center clinic charts from January 2002 to October 2014. Demographics, serologic testing, intestinal biopsies, and extraintestinal symptoms at presentation, 12, 24, and >24 months were recorded. Extraintestinal symptoms included abnormal liver enzymes, arthralgia/arthritis, dermatitis herpetiformis, alopecia, fatigue, headache, anemia, stomatitis, myalgias, psychiatric disorders, rashes, seizures, neuropathy, short stature, delayed puberty, osteoporosis, and infertility. A total of 737 patients with biopsy-confirmed celiac disease or skin biopsy-confirmed dermatitis herpetiformis were included. Patients lost to follow-up, or with insufficient data were excluded leaving 328 patients (157 pediatrics younger than 18 years). For pediatrics, the female to male ratio was 2:1 and the mean age at diagnosis was 8.9 years. For adults, 4:1 and 40.6 years old. Extraintestinal symptom rates were similar in children (60%) and adults (62%). Short stature (33%), fatigue (28%), and headache (20%) were most common in children. Iron deficiency anemia (48%), fatigue (37%), and headache/psychiatric disorders (24%) were common in adults. Children had faster/higher rates of symptom resolution compared with adults. Twenty-eight percent of children with unresolved short stature on a GFD were found to have other comorbidities. Children and adults with celiac disease have similar rates of extraintestinal manifestations. In children short stature, fatigue, and headache were most common, whereas anemia, fatigue, and headache/psychiatric disorders were most common in adults. Children on a strict GFD showed faster and higher rates of symptom resolution as compared to adults. Unresponsive children with short stature must be assessed for

  4. Identification and distribution of three serologically undetected alleles of HLA-DR by oligonucleotide x DNA typing analysis

    International Nuclear Information System (INIS)

    Tiercy, J.M.; Gorski, J.; Jeannet, M.; Mach, B.

    1988-01-01

    Recent progress in the molecular biology of human major histocompatibility complex class II genes (HLA-DP, -DQ, -DR) have shown that the genetic complexity and allelic polymorphism are greater than expected. In the case of HLA-DR, three DR β-chain loci have been identified and linked, two of which (DR βI and DR βIII, now assigned names HLA-DR1B and HLA-DR3B) are functional. The authors have shown that the HLA micropolymorphism detected at the DNA sequence level can easily be analyzed by hybridization with allele-specific oligonucleotides (HLA oligotyping). In the case of the HLA DRw52 supertypic specificity, which includes the DR3, DR5, DRw6, and DRw8 haplotypes, three alleles, referred to as DRw52a, DRw52b, and DRw52c, have recently been identified at the HLA-DR3B locus by DNA sequencing. Hybridization with locus- and allele-specific oligonucleotide probes (designated 52a, 52b, and 52c) has been performed on DNA from normal individuals forming a panel of 82 haplotypes to establish the distribution of these three alleles. Individuals of the DR3 haplotype had either the DRw52a or DRw52b allele, and individuals of extended haplotype HLA-A1,B8,DR3 had only the DRw52a allele. DR5 individuals all had the DRw52b allele, while individuals of DRw6 haplotype had the DRw52a, -52b, or -52c allele. None of these three alleles are found in DRw8 individuals. Analysis of this micropolymorphism, undetectable by common typing procedures, is therefore now operational for more accurate HLA matching for transplantation and for improving correlations between HLA and disease susceptibility

  5. Familial X/Y Translocation Encompassing ARSE in Two Moroccan Siblings with Sensorineural Deafness.

    Science.gov (United States)

    Amasdl, Saadia; Smaili, Wiam; Natiq, Abdelhafid; Hassani, Amale; Sbiti, Aziza; Agadr, Aomar; Sanlaville, Damien; Sefiani, Abdelaziz

    2017-01-01

    Unbalanced translocations involving X and Y chromosomes are rare and associated with a contiguous gene syndrome. The clinical phenotype is heterogeneous including mainly short stature, chondrodysplasia punctata, ichthyosis, hypogonadism, and intellectual disability. Here, we report 2 brothers with peculiar gestalt, short stature, and hearing loss, who harbor an X/Y translocation. Physical examination, brainstem acoustic potential evaluation, bone age, hormonal assessment, and X-ray investigations were performed. Because of their dysmorphic features, karyotyping, FISH, and aCGH were carried out. The probands had short stature, hypertelorism, midface hypoplasia, sensorineural hearing loss, normal intelligence as well as slight radial and ulnar bowing with brachytelephalangy. R-banding identified a derivative X chromosome with an abnormally expanded short arm. The mother was detected as a carrier of the same aberrant X chromosome. aCGH disclosed a 3.1-Mb distal deletion of chromosome region Xp22.33pter. This interval encompasses several genes, especially the short stature homeobox (SHOX) and arylsulfatase (ARSE) genes. The final karyotype of the probands was: 46,Y,der(X),t(X;Y)(p22;q12).ish der(X)(DXYS129-,DXYS153-)mat.arr[hg19] Xp22.33(61091_2689408)×1mat,Xp22.33(2701273_3258404)×0mat,Yq11.222q12 (21412851_59310245)×2. Herein, we describe a Moroccan family with a maternally inherited X/Y translocation and discuss the genotype-phenotype correlations according to the deleted genes. © 2017 S. Karger AG, Basel.

  6. Osteological evidence of short-limbed dwarfism in a nineteenth century Dutch family: Achondroplasia or hypochondroplasia.

    Science.gov (United States)

    Waters-Rist, Andrea L; Hoogland, Menno L P

    2013-12-01

    An opportunity to explore osteological features of a form of disproportionate dwarfism is presented by a recent archaeological discovery. Excavation of a predominately nineteenth century Dutch cemetery from the rural, agricultural village of Middenbeemster revealed an older adult female with skeletal changes consistent with achondroplasia. The most marked features are a rhizomelic pattern of shortened and thickened upper and lower limbs, frontal bossing and a moderately depressed nasal bridge, small lumbar neural canals with short pedicles, bowing of the femora and tibiae, and short stature (130.0±5cm). However, some common features of achondroplasia like cranial base reduction and shortened fingers and toes are absent. The alternative diagnosis of a more mild form of short-limbed dwarfism, hypochondroplasia, is explored and aided by archival identification of the individual and her offspring. Five offspring, including three perinates, a 10-year-old daughter, and a 21-year-old son, are analysed for evidence of an inherited skeletal dysplasia. The unique addition of family history to the paleopathological diagnostic process supports a differential outcome of hypochondroplasia. This combination of osteological and archival data creates a unique opportunity to track the inheritance and manifestation of a rare disease in a past population. Copyright © 2013 Elsevier Inc. All rights reserved.

  7. Intra HLA-D/DR region recombinant detected by primed lymphocyte typing (PLT)

    DEFF Research Database (Denmark)

    Jakobsen, B K; Kristensen, T; Lamm, L U

    1983-01-01

    lymphocyte typing (PLT) for HLA-D/DR region associated DP antigens. None of these studies gave evidence that the recombinations had occurred within the HLA region. Mixed leucocyte culture (MLC) tests within the families showed no detectable stimulation between the HLA identical siblings in two......The chromosome 6 markers, HLA-ABC, D, DR, MT, properdin factor Bf, and complement factors 2 (C2) and 5 (C4), were studied in three families, each of which included two HLA identical siblings, one or both of whom were known to be HLA-B: GLO recombinants. The families were also typed with primed...... to reactive reagents. One of these (GHx), reacted with a determinant which segregated within the GG family as if child G was a paternal recombinant between the HLA-D, DR, DP, and C4 loci, on the one hand, and on the other hand one or more loci governing other HLA-D/DR region controlled lymphocyte activating...

  8. Visit of H.E. Dr Abdolrahim Gavahi, Secretary General, Economic Cooperation Organization, Islamic Republic of Iran

    CERN Multimedia

    Patrice Loïez

    2001-01-01

    Photo 01: L.to r. Prof. Galileo Violini, Head, UNESCO Office, Teheran; Mr Jan van der Boon, CERN Director of Administration; H.E. Dr Abdolrahim Gavahi, Secretary General, Economic Cooperation Organization, Islamic Republic of Iran (signing the Guest Book); Dr John Ellis, CERN Adviser for Non-Member State Relations and Dr Behzad Alipour Tehrany Photo 02: Mr Jan van der Boon, CERN Director of Administration (left) and Dr John Ellis, CERN Adviser for Non-Member State Relations (right) on the occasion of the visit of H.E. Dr Abdolrahim Gavahi, Secretary General, Economic Cooperation Organization, Islamic Republic of Iran.

  9. Reminiscences by Dr. I.I. Rabi

    International Nuclear Information System (INIS)

    Rabi, I.I.

    1973-01-01

    Dr. I.I. Rabi, Professor of Physics, Columbia University, Nobel Laureate, adviser to presidents and an original member of the scientific advisory committees both of the United Nations and the IAEA, delivered the following address at the Salazar Atomic Centre, Mexico, in October 1972 he spoke on 'reminiscences from scientific advisory services to governments and international organizations'. (author)

  10. [Quality of life in children, adolescents, and young adults with achondroplasia].

    Science.gov (United States)

    Rohenkohl, A C; Bullinger, M; Quitmann, J

    2015-03-01

    Compared to research on short-statured adults, quality of life (QoL) of children has been rarely studied. One reason for this might be the lack of appropriate disease-specific questionnaires. The aim of this study was to analyse the quality of life in a sample of short-statured children with achondroplasia, using generic and disease-specific instruments. In addition, a comparison of patient and population norms is presented. The sample included children (8-28 years) with achondroplasia and parents of participating children (8-17 years). Quality of life was analyzed with the KIDSCREEN, the DISABKIDS and the disease-specific Quality of Life in Short Stature Youth (QoLISSY) questionnaire. In addition group differences according to clinical and sociodemographic data were analyzed within the sample and compared to available KIDSCREEN representative population data. The physical QoL was rated poorly in this sample of short-statured patients, while the emotional QoL was rated more favorably. Compared to the KIDSCREEN population norm, parents of children with achondroplasia rate the QoL lower. The QoLISSY questionnaire is a reliable tool to assess the subjective wellbeing of patients with skeletal dysplasia. The instrument can now be used clinically as a screening for patient wellbeing, as an outcome criterion in clinical research and as a psychosocial indicator in orthopedic cohort studies.

  11. Agonistic Human Monoclonal Antibodies against Death Receptor 4 (DR4) | NCI Technology Transfer Center | TTC

    Science.gov (United States)

    The National Cancer Institute is seeking parties interested in licensing human monoclonal antibodies (mAbs) that bind to death receptor 4 ("DR4"). The tumor necrosis factor (TNF)-related apoptosis-inducing ligand (TRAIL) and its functional receptors, DR4 and DR5, have been recognized as promising targets for cancer treatment.

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

    Directory of Open Access Journals (Sweden)

    Pawel Matusik

    2016-01-01

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

  13. White dwarf-main sequence binaries from LAMOST: the DR5 catalogue

    Science.gov (United States)

    Ren, J.-J.; Rebassa-Mansergas, A.; Parsons, S. G.; Liu, X.-W.; Luo, A.-L.; Kong, X.; Zhang, H.-T.

    2018-03-01

    We present the data release (DR) 5 catalogue of white dwarf-main sequence (WDMS) binaries from the Large Area Multi-Object fiber Spectroscopic Telescope (LAMOST). The catalogue contains 876 WDMS binaries, of which 757 are additions to our previous LAMOST DR1 sample and 357 are systems that have not been published before. We also describe a LAMOST-dedicated survey that aims at obtaining spectra of photometrically-selected WDMS binaries from the Sloan Digital Sky Survey (SDSS) that are expected to contain cool white dwarfs and/or early type M dwarf companions. This is a population under-represented in previous SDSS WDMS binary catalogues. We determine the stellar parameters (white dwarf effective temperatures, surface gravities and masses, and M dwarf spectral types) of the LAMOST DR5 WDMS binaries and make use of the parameter distributions to analyse the properties of the sample. We find that, despite our efforts, systems containing cool white dwarfs remain under-represented. Moreover, we make use of LAMOST DR5 and SDSS DR14 (when available) spectra to measure the Na I λλ 8183.27, 8194.81 absorption doublet and/or Hα emission radial velocities of our systems. This allows identifying 128 binaries displaying significant radial velocity variations, 76 of which are new. Finally, we cross-match our catalogue with the Catalina Surveys and identify 57 systems displaying light curve variations. These include 16 eclipsing systems, two of which are new, and nine binaries that are new eclipsing candidates. We calculate periodograms from the photometric data and measure (estimate) the orbital periods of 30 (15) WDMS binaries.

  14. Dr.Zhang Ren's Experience in Acupuncture Treatment of Obstinate Eye Diseases

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    @@ Dr.Zhang Ren (張仁), the board chairman of Shanghai Acupuncture Association, has been engaging in acupuncture treatment for more than 30years, during which he has kept on exploring the acupuncture therapies for obstinate diseases,especially for the obstinate eye diseases, ant summed up rich experience in this aspect. The following is a summary of what the author has learned from Dr. Zhang Ren.

  15. [Dr Guillermo Contreras Da Silva, a relevant figure in the development of Chilean microbiology].

    Science.gov (United States)

    Cabello, Felipe C

    2008-02-01

    The influence of the work of Dr. Guillermo Contreras Da Silva and his colaborators on the evolution of microbiology in Chile is briefly analyzed. Dr. Contreras was trained in modern virology at Yale University with Dr. J. Melnick under the sponsorhip of the Rockefeller Foundation. During this training, he used serological methods to classify Cocksakie viruses. After his return to Chile, he studied the epidemiology of enteroviruses, including poliovirus. His laboratory, the country's first in modern virology, took an active role in Chile's first Sabin polio vaccination in 1961. Dr. Contreras and his group transformed the teaching and the character of microbiology in Chile from a descriptive medically oriented discipline into an autonomous, quantitative and experimental science. They modernized microbiology with the introduction of molecular biology and microbial genetics and fostered collaborations with allied biological sciences. Dr. Contreras was a Guggenheim Fellow, and until his retirement, was the Chief of the Viral Products Division, Bureau of Biologies, Ottawa, Canada.

  16. Evolution and current status of demand response (DR) in electricity markets: Insights from PJM and NYISO

    International Nuclear Information System (INIS)

    Walawalkar, Rahul; Fernands, Stephen; Thakur, Netra; Chevva, Konda Reddy

    2010-01-01

    In electricity markets, traditional demand side management programs are slowly getting replaced with demand response (DR) programs. These programs have evolved since the early pilot programs launched in late 1990s. With the changes in market rules the opportunities have generally increased for DR for participating in emergency, economic and ancillary service programs. In recent times, various regulators have suggested that DR can also be used as a solution to meet supply - demand fluctuations in scenarios with significant penetration of variable renewable sources in grid. This paper provides an overview of the evolution of the DR programs in PJM and NYISO markets as well as analyzes current opportunities. Although DR participation has grown, most of the current participation is in the reliability programs, which are designed to provide load curtailment during peak days. This suggests that there is a significant gap between perception of ability of DR to mitigate variability of renewables and reality of current participation. DR in future can be scaled to play a more dynamic role in electricity markets, but that would require changes both on technology as well as policy front. Advances in building technologies and energy storage combined with appropriate price signals can lead to enhanced DR participation. (author)

  17. His Excellency Professor Dr Che-Ho Wei, Chairman, National Science Council Executive Yuan, Republic of China

    CERN Multimedia

    Patrice Loïez

    2002-01-01

    Photo 01: Professor Dr. Che-Ho Wei signing the Guest Book with CERN Director-General, L. Maiani. Photo 02: Professor Dr. Che-Ho Wei. Photo 03::Professor Dr. Che-Ho Wei shaking hands with CERN Director-General, L. Maiani.

  18. Characteristics of Rheumatoid Arthritis relative to HLA-DR in Saudi Arabia

    International Nuclear Information System (INIS)

    Al-Arfaj, Abdurhman S.

    2001-01-01

    The objective was to determine the clinical characteristics of rheumatoid arthritis in Saudi Arabia in relation to human leukocyte antigen type. A group of 91 rheumatoid arthritis patients, 72 females and 19 males were studied for the various clinical, laboratory and radiological parameters along with human leukocyte antigen-DR phenotypes. Since human leukocyte antigen-DR10 was most commonly associated with rheumatoid arthritis in our population, we compared those patients with human leukocyte antigen-DR10 to those without. The comparison yielded differences in the presence of rheumatoid nodules, erosions, corticosteroid treatment, and joint involvement at presentation, hemoglobin levels, and white cell count. Only the last 3 parameters showed a statistical significance. Human leukocyte antigen type of Saudi patients with rheumatoid arthritis influenced the course of the disease but only to a limited extent. (author)

  19. Dr Oen Boen Ing Patriot doctor, social activist, and doctor of the poor

    Directory of Open Access Journals (Sweden)

    Ravando Lie

    2017-05-01

    Full Text Available This article examines the efforts and achievements of Oen Boen Ing, a Tionghoa doctor, to improve the quality of health of the poorer inhabitants of Surakarta. Dr Oen played an important role in five different periods: Dutch colonialism, the Japanese occupation, the Indonesian revolution, Soekarno’s regime, and Suharto’s New Order. Known for being a benevolent doctor, activist, and patriot of the revolution during his life-time, Dr Oen also gave medical assistance to the needy, which famously earned him the accolade of “doctor of the poor”. During the Indonesian revolution, Dr Oen assisted the Student Soldiers (Tentara Pelajar and afterwards was appointed the member of Supreme Advisory Council (Dewan Pertimbangan Agung/DPA by Soekarno in 1949. As a benevolent doctor and activist, Dr Oen is remembered for founding the Panti Kosala Hospital which was renamed to perpetuate his name on 30 October 1983, exactly a year after his passing. When he died, thousands of peoples gathered to pay their final respects to the doctor. He was honoured with a ceremony conducted in the Mangkunegaran Palace. Dr Oen’s name will be eternally respected, especially in Surakarta.

  20. Loss and benefit of DR system in mass screening for upper GI-tracts. Comparison with an II-TV based DR system and 100-mm roll-film system

    International Nuclear Information System (INIS)

    Ogura, Toshihiro; Fujita, Hiroshi.

    1995-01-01

    A 2048 x 2048 matrix II-TV based digital radiography (DR) system, a fully digital imaging system with diagnosis on the CRT monitor, had been introduced to Cancer Institute Hospital for the GI-tracts examinations since January 1990. Furthermore, we had applied it to the mass screening of upper GI-tract since November 1992. In the present study, a retrospective study on clinical evaluation and features of the DR system for the mass screening were investigated and compared with the screening data taken by conventional 100-mm roll-film technique in the previous year. The loss ratios and appearance of the mucosal patterns in upper gastric images were studied as well. Also determined was the reading time of those images in the mass screening situation. It was found that the loss ratio on the subject image information in 100-mm roll-film images was smaller than that in DR images. However, the DR images processed by windowing technique provided the perfect information without partially over or under density area. It was shown that the clinical image quality greatly depended on the radiographic technique by radiologists or technologists rather than on the imaging modality itself employed; even in II/TV-DR system, the radiographic technique is important. Because of some issues, including the size of CRT monitor, eyestrain for CRT monitor, and windowing operation regard to reading system, the reading time of CRT images was 1.44-2.05 times longer than that of 100-mm roll-film images. (author)