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Sample records for osteodysplastic primordial dwarfism

  1. Microcephalic osteodysplastic primordial dwarfism type 1.

    Science.gov (United States)

    Ferrell, Steven; Johnson, Aaron; Pearson, Waylon

    2016-06-16

    Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) is an uncommon cause of microcephaly and intrauterine growth retardation in a newborn. Early identifying features include but are not limited to sloping forehead, micrognathia, sparse hair, including of eyebrows and short limbs. Immediate radiological findings may include partial or complete agenesis of the corpus callosum, interhemispheric cyst and shallow acetabula leading to dislocation. Genetic testing displaying a mutation in RNU4ATAC gene is necessary for definitive diagnosis. Early identification is important as MOPD1 is an autosomal recessive condition and could present in subsequent pregnancies. The purpose of this case is to both identify and describe some common physical findings related to MOPD1. We present a case of MOPD1 in a girl born to non-consanguineous parents that was distinct for subglottic stenosis and laryngeal cleft. 2016 BMJ Publishing Group Ltd.

  2. Microcephalic osteodysplastic primordial dwarfism (MOPD) type I ...

    African Journals Online (AJOL)

    Rabah M. Shawky

    2017-05-02

    May 2, 2017 ... Seckel syndrome, microcephalic osteodysplastic primordial dwarf- ism (MOPD) type ... tures of elbow and knee joints, thin dry skin with marked decreased ... lashes and eyebrows, protruding eyes, prominent nose with a flat.

  3. Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review.

    Science.gov (United States)

    Bober, Michael B; Jackson, Andrew P

    2017-04-01

    This review will provide an overview of the microcephalic primordial dwarfism (MPD) class of disorders and provide the reader comprehensive clinical review with suggested care guidelines for patients with microcephalic osteodysplastic primordial dwarfism, type II (MOPDII). Over the last 15 years, significant strides have been made in the diagnosis, natural history, and management of MOPDII. MOPDII is the most common and well described form of MPD. The classic features of the MPD group are severe pre- and postnatal growth retardation, with marked microcephaly. In addition to these features, individuals with MOPDII have characteristic facies, skeletal dysplasia, abnormal dentition, and an increased risk for cerebrovascular disease and insulin resistance. Biallelic loss-of-function mutations in the pericentrin gene cause MOPDII, which is inherited in an autosomal recessive manner.

  4. Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I.

    Science.gov (United States)

    Abdel-Salam, Ghada M H; Abdel-Hamid, Mohamed S; Issa, Mahmoud; Magdy, Ahmed; El-Kotoury, Ahmed; Amr, Khalda

    2012-06-01

    Mutations in the RNU4ATAC gene cause microcephalic osteodysplastic primordial dwarfism type I. It encodes U4atac, a small nuclear RNA that is a component of the minor spliceosome. Six distinct mutations in 30 patients diagnosed as microcephalic osteodysplastic primordial dwarfism type I have been described. We report on three additional patients from two unrelated families presenting with a milder phenotype of microcephalic osteodysplastic primordial dwarfism type I and metopic synostosis. Patient 1 had two novel heterozygous mutations in the 3' prime stem-loop, g.66G > C and g.124G > A while Patients 2 and 3 had a homozygous mutation g.55G > A in the 5' prime stem-loop. Although they manifested the known spectrum of clinical features of microcephalic osteodysplastic primordial dwarfism type I, they lacked evidence of severe developmental delay and neurological symptoms. These findings expand the mutational and phenotypic spectrum of this syndrome. Copyright © 2012 Wiley Periodicals, Inc.

  5. "Ocular moyamoya" syndrome in a patient with features of microcephalic osteodysplastic primordial dwarfism type II.

    Science.gov (United States)

    Bang, Genie M; Kirmani, Salman; Patton, Alice; Pulido, Jose S; Brodsky, Michael C

    2013-02-01

    Primordial dwarfism refers to severely impaired growth beginning early in fetal life. There are many genetic causes of primordial dwarfism, including disorders classified as microcephalic osteodysplastic primordial dwarfism. Microcephalic osteodysplastic primordial dwarfism type II is an autosomal-recessive disease characterized by small stature, bone and dental anomalies, and characteristic facies. Affected patients have a high risk of stroke secondary to progressive cerebral vascular anomalies, which often are classified as moyamoya disease. We present the case of a boy with features suggestive of MOPD II with unilateral moyamoya cerebrovascular changes and correlative moyamoya collaterals involving the iris of the ipsilateral eye. Copyright © 2013 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.

  6. MAJEWSKI OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II: CLINICAL FINDINGS AND DENTAL MANAGEMENT OF A CHILD PATIENT

    OpenAIRE

    Terlemez, Arslan; Altunsoy, Mustafa; Çelebi, Hakkı

    2015-01-01

    Majewski osteodysplastic primordial dwarfism type II (MOPD II) is an unusual autosomal recessive inherited form of primordial dwarfism, which is characterized by a small head diameter at birth, but which also progresses to severe microcephaly, progressive bony dysplasia, and characteristic facies and personality. This report presents a case of a five-year-old girl with MOPD II syndrome. The patient was referred to our clinic with the complaint of severe tooth pain at the left mandibular prima...

  7. Hip pathology in Majewski osteodysplastic primordial dwarfism type II.

    Science.gov (United States)

    Karatas, Ali F; Bober, Michael B; Rogers, Kenneth; Duker, Angela L; Ditro, Colleen P; Mackenzie, William G

    2014-09-01

    Majewski osteodysplastic primordial dwarfism type II (MOPDII) is characterized by severe prenatal and postnatal growth failure with microcephaly, characteristic skeletal dysplasia, an increased risk for cerebrovascular disease, and insulin resistance. MOPDII is caused by mutations in the pericentrin (PCNT) gene and is inherited in an autosomal-recessive manner. This study aimed to determine the incidence of hip pathology in patients with molecularly confirmed MOPDII and to describe the functional outcomes of surgical treatment. Thirty-three enrolled patients had a clinical diagnosis of MOPDII. Biallelic PCNT mutations or absent pericentrin protein was confirmed in 25 of these patients. Twelve patients (7 female) had appropriate clinical and radiographic records at this institution and were included in this study. The data collected included age at presentation, age at surgery, sex, body weight and height, weight-bearing status at diagnosis, and the clinical examination. Four patients (31%) had coxa vara: 3 unilateral and 1 bilateral. Three unilateral patients had in situ pinning at a mean age 4 years. The patient with bilateral coxa vara had valgus osteotomy at the age of 5 years. Two children had bilateral hip dysplasia and subluxation with no surgery. One patient had bilateral developmental hip dislocations. The patient was treated by open reduction-spica cast and 2 years after surgery, coxa valga was noted. Another patient was diagnosed at an age of 12 years with bilateral avascular necrosis of the hips. Four patients did not have hip pathology. Hip pathology is common among children with MOPDII; coxa vara is the most frequent diagnosis. Routine clinical and radiographic hip evaluation is important. The capital femoral epiphysis appears to slip down along the shaft, giving the appearance of a proximal femoral epiphysiolysis. A hip diagnosed with slipped capital femoral epiphysis in early life may progress to severe coxa vara. Level IV.

  8. Microcephalic osteodysplastic primordial dwarfism, with the fascinating history of "Mademoiselle Crachami".

    Science.gov (United States)

    Bozkaya, O Giray

    2013-01-01

    This review critically examines the findings which characterize the dysmorphic, radiologic and behavioral phenotype of Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) and has an historical perspective on it. MOPD is a group of primordial dwarfism syndromes with prenatal onset growth retardation, a typical craniofacial appearance and behavioral phenotype. In 1959, Mann and Russell have described the first case in a detailed report, and named "microcephalic midget of extreme type". In their report; based on historical records and a small painting, they pointed "Mademoiselle Crachami" as the oldest known case.

  9. Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome

    OpenAIRE

    Dieks, Jana-Katharina; Baumer, Alessandra; Wilichowski, Ekkehard; Rauch, Anita; Sigler, Matthias

    2014-01-01

    To date, the genetic basis of Dubowitz syndrome (short stature, microcephaly, facial abnormalities, eczema) is unknown and vascular complications are not known to be associated with this syndrome. In microcephalic osteodysplastic primordial dwarfism type II (MOPD II; disproportionate short statue, microcephaly, facial abnormalities), however, cerebral aneurysms and other vascular abnormalities are frequent complications. MOPD II is a genetic disorder caused by mutations in the pericentrin (PC...

  10. Bone structure in two adult subjects with impaired minor spliceosome function resulting from RNU4ATAC mutations causing microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1)

    DEFF Research Database (Denmark)

    Krøigård, Anne Bruun; Frost, Morten; Larsen, Martin Jakob

    2016-01-01

    Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1), or Taybi-Linder syndrome is characterized by distinctive skeletal dysplasia, severe intrauterine and postnatal growth retardation, microcephaly, dysmorphic features, and neurological malformations. It is an autosomal recessive...

  11. Multiple intracranial aneurysms and moyamoya disease associated with microcephalic osteodysplastic primordial dwarfism type II: surgical considerations.

    Science.gov (United States)

    Waldron, James S; Hetts, Steven W; Armstrong-Wells, Jennifer; Dowd, Christopher F; Fullerton, Heather J; Gupta, Nalin; Lawton, Michael T

    2009-11-01

    Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a rare genetic syndrome characterized by extremely small stature and microcephaly, and is associated in 25% of patients with intracranial aneurysms and moyamoya disease. Although aneurysmal subarachnoid hemorrhage and stroke are leading causes of morbidity and death in these patients, MOPD II is rarely examined in the neurosurgical literature. The authors report their experience with 3 patients who presented with MOPD II, which includes a patient with 8 aneurysms (the most aneurysms reported in the literature), and the first report of a patient with both moyamoya disease and multiple aneurysms. The poor natural history of these lesions indicates aggressive microsurgical and/or endovascular therapy. Microsurgery, whether for aneurysm clip placement or extracranial-intracranial bypass, is challenging due to tight surgical corridors and diminutive arteries in these patients, but is technically feasible and strongly indicated when multiple aneurysms must be treated or cerebral revascularization is needed.

  12. Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene.

    Science.gov (United States)

    Nagy, R; Wang, H; Albrecht, B; Wieczorek, D; Gillessen-Kaesbach, G; Haan, E; Meinecke, P; de la Chapelle, A; Westman, J A

    2012-08-01

    Microcephalic osteodysplastic primordial dwarfism type I (MOPD I) is a rare autosomal recessive developmental disorder characterized by extreme intrauterine growth retardation, severe microcephaly, central nervous system abnormalities, dysmorphic facial features, skin abnormalities, skeletal changes, limb deformations, and early death. Recently, mutations in the RNU4ATAC gene, which encodes U4atac, a small nuclear RNA that is a crucial component of the minor spliceosome, were found to cause MOPD I. MOPD I is the first disease known to be associated with a defect in small nuclear RNAs. We describe here the clinical and molecular data for 17 cases of MOPD I, including 15 previously unreported cases, all carrying biallelic mutations in the RNU4ATAC gene. © 2011 John Wiley & Sons A/S.

  13. Majewski osteodysplastic primordial dwarfism type II: clinical findings and dental management of a child patient.

    Science.gov (United States)

    Terlemez, Arslan; Altunsoy, Mustafa; Celebi, Hakki

    2015-01-01

    Majewski osteodysplastic primordial dwarfism type II (MOPD II) is an unusual autosomal recessive inherited form of primordial dwarfism, which is characterized by a small head diameter at birth, but which also progresses to severe microcephaly, progressive bony dysplasia, and characteristic facies and personality. This report presents a case of a five-year-old girl with MOPD II syndrome. The patient was referred to our clinic with the complaint of severe tooth pain at the left mandibular primary molar teeth. Clinical examination revealed that most of the primary teeth had been decayed and all primary teeth were hypoplastic. Patient's history revealed delayed development in the primary dentition and radiographic examination showed rootless primary molar teeth and short-rooted incisors. The treatment was not possible due to the lack of root of the left mandibular primary molars; so the teeth were extracted. Thorough and timely dental evaluation is crucial for the prevention of dental problems and the maintenance of oral health in patients with MOPD II syndrome is of utmost importance.

  14. MAJEWSKI OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II: CLINICAL FINDINGS AND DENTAL MANAGEMENT OF A CHILD PATIENT

    Directory of Open Access Journals (Sweden)

    Arslan Terlemez

    2015-01-01

    Full Text Available Majewski osteodysplastic primordial dwarfism type II (MOPD II is an unusual autosomal recessive inherited form of primordial dwarfism, which is characterized by a small head diameter at birth, but which also progresses to severe microcephaly, progressive bony dysplasia, and characteristic facies and personality. This report presents a case of a five-year-old girl with MOPD II syndrome. The patient was referred to our clinic with the complaint of severe tooth pain at the left mandibular primary molar teeth. Clinical examination revealed that most of the primary teeth had been decayed and all primary teeth were hypoplastic. Patient’s history revealed delayed development in the primary dentition and radiographic examination showed rootless primary molar teeth and short-rooted incisors. The treatment was not possible due to the lack of root of the left mandibular primary molars; so the teeth were extracted. Thorough and timely dental evaluation is crucial for the prevention of dental problems and the maintenance of oral health in patients with MOPD II syndrome is of utmost importance.

  15. Medical management of moyamoya disease and recurrent stroke in an infant with Majewski osteodysplastic primordial dwarfism type II (MOPD II).

    Science.gov (United States)

    Kılıç, Esra; Utine, Eda; Unal, Sule; Haliloğlu, Göknur; Oğuz, Kader Karli; Cetin, Mualla; Boduroğlu, Koray; Alanay, Yasemin

    2012-10-01

    We report an infant diagnosed with Majewski osteodysplastic primordial dwarfism type II at age 8 months, who experienced cerebrovascular morbidities related to this entity. Molecular analysis identified c.2609+1 G>A, intron 14, homozygous splice site mutation in the pericentrin gene. At age 18 months, she developed recurrent strokes and hemiparesis. Brain magnetic resonance imaging and magnetic resonance angiography showed abnormal gyral pattern, cortical acute infarcts, bilateral stenosis of the internal carotid arteries and reduced flow on the cerebral arteries, consistent with moyamoya disease. In Majewski osteodysplastic primordial dwarfism type II, life expectancy is reduced because of high risk of stroke secondary to cerebral vascular anomalies (aneurysms, moyamoya disease). Periodic screening for vascular events is recommended in individuals with Majewski osteodysplastic primordial dwarfism type II every 12-18 months following diagnosis. Our patient was medically managed with low molecular weight heparin followed with aspirin prophylaxis, in addition to carbamazepine and physical rehabilitation. We report an infant with moyamoya disease and recurrent stroke presenting 10 months after diagnosis (at age 18 months), and discuss the outcome of nonsurgical medical management. The presented case is the second youngest case developing stroke and moyamoya disease.

  16. Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations.

    Science.gov (United States)

    Bober, Michael B; Niiler, Tim; Duker, Angela L; Murray, Jennie E; Ketterer, Tara; Harley, Margaret E; Alvi, Sabah; Flora, Christina; Rustad, Cecilie; Bongers, Ernie M H F; Bicknell, Louise S; Wise, Carol; Jackson, Andrew P

    2012-11-01

    Microcephalic primordial dwarfism (MPD) is a class of disorders characterized by intrauterine growth restriction (IUGR), impaired postnatal growth and microcephaly. Majewski osteodysplastic primordial dwarfism type II (MOPD II) is one of the more common conditions within this group. MOPD II is caused by truncating mutations in pericentrin (PCNT) and is inherited in an autosomal recessive manner. Detailed growth curves for length, weight, and OFC are presented here and derived from retrospective data from 26 individuals with MOPD II confirmed by molecular or functional studies. Severe pre- and postnatal growth failure is evident in MOPD II patients. The length, weight, and OFC at term (when corrected for gestational age) were -7.0, -3.9, and -4.6 standard deviation (SD) below the population mean and equivalent to the 50th centile of a 28-29-, 31-32-, and 30-31-week neonate, respectively. While at skeletal maturity, the height, weight, and OFC were -10.3, -14.3, and -8.5 SD below the population mean and equivalent to the size of 3-year 10- to 11-month-old, a 5-year 2- to 3-month-old, and 5- to 6-month-old, respectively. During childhood, MOPD II patients grow with slowed, but fairly constant growth velocities and show no evidence of any pubertal growth spurt. Treatment with human growth hormone (n = 11) did not lead to any significant improvement in final stature. The growth charts presented here will be of assistance with diagnosis and management of MOPD II, and should have particular utility in nutritional management of MOPD II during infancy. Copyright © 2012 Wiley Periodicals, Inc.

  17. Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III.

    Science.gov (United States)

    Juric-Sekhar, Gordana; Kapur, Raj P; Glass, Ian A; Murray, Mitzi L; Parnell, Shawn E; Hevner, Robert F

    2011-04-01

    Microcephalic osteodysplastic primordial dwarfism (MOPD) is a rare microlissencephaly syndrome, with at least two distinct phenotypic and genetic types. MOPD type II is caused by pericentrin mutations, while types I and III appear to represent a distinct entity (MOPD I/III) with variably penetrant phenotypes and unknown genetic basis. The neuropathology of MOPD I/III is little understood, especially in comparison to other forms of lissencephaly. Here, we report postmortem brain findings in an 11-month-old female infant with MOPD I/III. The cerebral cortex was diffusely pachygyric, with a right parietal porencephalic lesion. Histologically, the cortex was abnormally thick and disorganized. Distinct malformations were observed in different cerebral lobes, as characterized using layer-specific neuronal markers. Frontal cortex was severely disorganized and coated with extensive leptomeningeal glioneuronal heterotopia. Temporal cortex had a relatively normal 6-layered pattern, despite cortical thickening. Occipital cortex was variably affected. The corpus callosum was extremely hypoplastic. Brainstem and cerebellar malformations were also present, as well as old necrotic foci. Findings in this case suggest that the cortical malformation in MOPD I/III is distinct from other forms of pachygyria-lissencephaly.

  18. Cranial vault remodeling in microcephalic osteodysplastic primordial dwarfism type II and craniosynostosis.

    Science.gov (United States)

    Engel, Michael; Castrillon-Oberndorfer, Gregor; Hoffmann, Jürgen; Egermann, Marcus; Freudlsperger, Christian; Thiele, Oliver Christian

    2012-09-01

    This is a survey of the long-term result after various surgical treatments in a child with microcephalic osteodysplastic primordial dwarfism type II (MOPD II) and craniosynostosis. We report a 17-year-old patient with MOPD II but some unusual clinical signs including bilateral knee dislocation, a misplaced upper lobe bronchus, and hypoplasia of the anterior corpus callosum. Because of premature fusion of several cranial sutures, the child developed signs of increased intracranial pressure with somnolence and papilledema. Cranial vault remodeling with fronto-orbital advancement was performed twice at the age of 16 and 21 months to open the abnormally closed suture, increase the intracranial volume, and relieve the elevated intracranial pressure. Following this procedure, the child's neurologic situation recovered significantly. Surgical procedure of fronto-orbital advancement and the performed reoperation in our patient were safe with no major complications intraoperatively and postoperatively with good functional and satisfying aesthetic outcomes in the long-term follow-up, expressed by the patient, his parents, and the surgeons.

  19. Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome.

    Science.gov (United States)

    Dieks, Jana-Katharina; Baumer, Alessandra; Wilichowski, Ekkehard; Rauch, Anita; Sigler, Matthias

    2014-09-01

    To date, the genetic basis of Dubowitz syndrome (short stature, microcephaly, facial abnormalities, eczema) is unknown and vascular complications are not known to be associated with this syndrome. In microcephalic osteodysplastic primordial dwarfism type II (MOPD II; disproportionate short statue, microcephaly, facial abnormalities), however, cerebral aneurysms and other vascular abnormalities are frequent complications. MOPD II is a genetic disorder caused by mutations in the pericentrin (PCNT) gene (21q22). We report on a patient who came to our attention as a 22-year-old with subarachnoid bleeding due to a ruptured cranial aneurysm. Until then, the patient was thought and published to have Dubowitz syndrome; previously, he was treated with coronary bypass surgery for extensive coronary angiopathy. Consecutive genetic testing revealed MOPD II. After clinical stabilization, the patient was discharged to a specialized rehabilitation center where he died due to re-rupture of a cranial aneurysm. In patients with short stature-especially when clinical features are accompanied by vascular complications-MOPD II should be considered as a differential diagnosis leading to consecutive genetic testing. After detection of mutations in the PCNT gene, a full vascular status including cerebral imaging and cardiac evaluation needs to be determined in order to analyze vascular abnormalities and initiate prophylactic treatment.

  20. Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings.

    Science.gov (United States)

    Hall, Judith G; Flora, Christina; Scott, Charles I; Pauli, Richard M; Tanaka, Kimi I

    2004-09-15

    A description of the clinical features of Majewski osteodysplastic primordial dwarfism type II (MOPD II) is presented based on 58 affected individuals (27 from the literature and 31 previously unreported cases). The remarkable features of MOPD II are: severe intrauterine growth retardation (IUGR), severe postnatal growth retardation; relatively proportionate head size at birth which progresses to true and disproportionate microcephaly; progressive disproportion of the short stature secondary to shortening of the distal and middle segments of the limbs; a progressive bony dysplasia with metaphyseal changes in the limbs; epiphyseal delay; progressive loose-jointedness with occasional dislocation or subluxation of the knees, radial heads, and hips; unusual facial features including a prominent nose, eyes which appear prominent in infancy and early childhood, ears which are proportionate, mildly dysplastic and usually missing the lobule; a high squeaky voice; abnormally, small, and often dysplastic or missing dentition; a pleasant, outgoing, sociable personality; and autosomal recessive inheritance. Far-sightedness, scoliosis, unusual pigmentation, and truncal obesity often develop with time. Some individuals seem to have increased susceptibility to infections. A number of affected individuals have developed dilation of the CNS arteries variously described as aneurysms and Moya Moya disease. These vascular changes can be life threatening, even in early years because of rupture, CNS hemorrhage, and strokes. There is variability between affected individuals even within the same family. Copyright 2004 Wiley-Liss, Inc.

  1. Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotype.

    Science.gov (United States)

    Bober, Michael B; Khan, Nadia; Kaplan, Jennifer; Lewis, Kristi; Feinstein, Jeffrey A; Scott, Charles I; Steinberg, Gary K

    2010-04-01

    Majewski Osteodysplastic Primordial Dwarfism, Type II (MOPD II) is a rare, autosomal recessive disorder. Features include severe intrauterine growth retardation (IUGR), poor postnatal growth (adult stature approximately 100 cm), severe microcephaly, skeletal dysplasia, characteristic facial features, and normal or near normal intelligence. An Institutional Review Board (IRB) approved registry was created and currently follows 25 patients with a diagnosis of MOPD II. Based on previous studies, a neurovascular screening program was implemented and 13 (52%) of these patients have been found to have cerebral neurovascular abnormalities including moyamoya angiopathy and/or intracranial aneurysms. The typical moyamoya pathogenesis begins with vessel narrowing in the supraclinoid internal carotid artery, anterior cerebral (A1) or middle cerebral (M1) artery segments. The narrowing may predominate initially on one side, progresses to bilateral stenosis, with subsequent occlusion of the vessels and collateral formation. We present four patients who, on neurovascular screening, were found to have cerebrovascular changes. Two were asymptomatic, one presented with a severe headache and projectile vomiting related to a ruptured aneurysm, and one presented after an apparent decline in cognitive functioning. Analysis of the registry suggests screening for moyamoya disease be performed at the time of MOPD II diagnosis and at least every 12-18 months using MRA or computerized tomographic angiography (CTA). We believe this is imperative. If diagnosed early enough, re-vascularization and aneurysm treatment in skilled hands can be performed safely and prevent or minimize long-term sequelae in this population. Emergent evaluation is also needed when other neurologic or cardiac symptoms are present. (c) 2010 Wiley-Liss, Inc.

  2. Screening for cerebrovascular disease in microcephalic osteodysplastic primordial dwarfism type II (MOPD II): an evidence-based proposal.

    Science.gov (United States)

    Perry, Luke D; Robertson, Fergus; Ganesan, Vijeya

    2013-04-01

    Microcephalic osteodysplastic primordial dwarfism type II (OMIM 210720) is a rare autosomal recessive condition frequently associated with early-onset cerebrovascular disease. Presymptomatic detection and intervention could prevent the adverse consequences associated with this. We reviewed published cases of microcephalic osteodysplastic primordial dwarfism type II to ascertain prevalence and characteristics of cerebrovascular disease and use these data to propose an evidence-based approach to cerebrovascular screening. Of 147 cases identified, 47 had cerebrovascular disease (32%), including occlusive arteriopathy (including moyamoya) and cerebral aneurysmal disease. Occlusive disease occurred in younger individuals, and progression can be both rapid and clinically silent. A reasonable screening approach would be magnetic resonance imaging and angiography of the cervical and intracranial circulation at diagnosis, repeated at yearly intervals until 10 years, and every 2 years thereafter, unless clinical concerns occur earlier. At present it would appear that this needs to be life-long. Families and professionals should be alerted to the potential significance of neurologic symptoms and measures should be taken to maintain good vascular health in affected individuals. Copyright © 2013 Elsevier Inc. All rights reserved.

  3. Microcephalic osteodysplastic primordial dwarfism (MOPD type I with severe anemia and MRI brain findings of MOPD type II

    Directory of Open Access Journals (Sweden)

    Rabah M. Shawky

    2017-10-01

    Full Text Available We report a 4 month old male, 4th in order of birth of healthy consanguineous Egyptian parents with typical characteristics of microcephalic osteodysplastic primordial dwarfism most probably belongs to type I (MOPD I. The patient had intrauterine growth retardation, sparse scalp hair, sparse eyebrows and eyelashes, high arched palate, micrognathia, low set ears, short neck, clenched fists, groove between thumb and palm of hand, arachnodactyly, flexion contractures of elbow and knee. He also had thin dry skin with marked decreased subcutaneous fat and prominent superficial veins over chest and abdomen and mild hypertrichosis over lower back and buttocks. However, the patient had severe anemia and MRI brain findings revealed global hypovolemic brain changes in the form of dilated ventricles and widened cortical sulci, multiple old vascular insults and aneurismal dilatation of right internal carotid artery (ICA which are consistent with MOPD II. Keywords: Microcephalic osteodysplastic primordial dwarfism type I, Intrauterine growth retardation, Dilatation of internal carotid artery, Severe anemia, Skeletal anomalies, Subcutaneous fat, Superficial veins on skin, Aneurysm of internal carotid artery

  4. Surgical outcomes of Majewski osteodysplastic primordial dwarfism Type II with intracranial vascular anomalies.

    Science.gov (United States)

    Teo, Mario; Johnson, Jeremiah N; Bell-Stephens, Teresa E; Marks, Michael P; Do, Huy M; Dodd, Robert L; Bober, Michael B; Steinberg, Gary K

    2016-12-01

    OBJECTIVE Majewski osteodysplastic primordial dwarfism Type II (MOPD II) is a rare genetic disorder. Features of it include extremely small stature, severe microcephaly, and normal or near-normal intelligence. Previous studies have found that more than 50% of patients with MOPD II have intracranial vascular anomalies, but few successful surgical revascularization or aneurysm-clipping cases have been reported because of the diminutive arteries and narrow surgical corridors in these patients. Here, the authors report on a large series of patients with MOPD II who underwent surgery for an intracranial vascular anomaly. METHODS In conjunction with an approved prospective registry of patients with MOPD II, a prospectively collected institutional surgical database of children with MOPD II and intracranial vascular anomalies who underwent surgery was analyzed retrospectively to establish long-term outcomes. RESULTS Ten patients with MOPD II underwent surgery between 2005 and 2012; 5 patients had moyamoya disease (MMD), 2 had intracranial aneurysms, and 3 had both MMD and aneurysms. Patients presented with transient ischemic attack (TIA) (n = 2), ischemic stroke (n = 2), intraparenchymal hemorrhage from MMD (n = 1), and aneurysmal subarachnoid hemorrhage (n = 1), and 4 were diagnosed on screening. The mean age of the 8 patients with MMD, all of whom underwent extracranial-intracranial revascularization (14 indirect, 1 direct) was 9 years (range 1-17 years). The mean age of the 5 patients with aneurysms was 15.5 years (range 9-18 years). Two patients experienced postoperative complications (1 transient weakness after clipping, 1 femoral thrombosis that required surgical repair). During a mean follow-up of 5.9 years (range 3-10 years), 3 patients died (1 of subarachnoid hemorrhage, 1 of myocardial infarct, and 1 of respiratory failure), and 1 patient had continued TIAs. All of the surviving patients recovered to their neurological baseline. CONCLUSIONS Patients with MMD

  5. Primordial Dwarfism

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    ... Topics Gait & Motion Analysis Genetic Disorders Limb Length Discrepancy Orthopedics Orthotics Primordial Dwarfism Locations & Doctors About Primordial ... Sign-In » Patient-Family Resources Insurance We Accept Pay My Bill Financial Assistance Medical Records Support Services ...

  6. Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: clinical report and review of cerebral vascular anomalies.

    Science.gov (United States)

    Brancati, Francesco; Castori, Marco; Mingarelli, Rita; Dallapiccola, Bruno

    2005-12-15

    We report on a 2 9/12-year-old boy with disproportionate short stature, microcephaly, subtle craniofacial dysmorphisms, and generalized skeletal dysplasia, who developed a left hemiparesis. Brain neuroimaging disclosed a complex cerebral vascular anomaly (CVA) with stenosis of the right anterior cerebral artery and telangiectatic collateral vessels supplying the cerebral cortex, consistent with moyamoya disease. Based on clinical and skeletal features, a diagnosis of Majewski osteodysplastic primordial dwarfism type II (MOPD II) was established. Review of 16 published patients with CVA affected by either Seckel syndrome or MOPD II suggested that CVA is preferentially associated to the latter subtype affecting about 1/4 of the patients. 2005 Wiley-Liss, Inc.

  7. A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report.

    Science.gov (United States)

    Pachajoa, Harry; Ruiz-Botero, Felipe; Isaza, Carolina

    2014-06-13

    Microcephalic osteodysplastic primordial dwarfism is a syndrome characterized by the presence of intrauterine growth restriction, post-natal growth deficiency and microcephaly. Microcephalic osteodysplastic primordial dwarfism type II is the most distinctive syndrome in this group of entities. Individuals affected by this disease present at an adult height of less than 100 cm, a post-pubertal head circumference of 40 cm or less, mild mental retardation, an outgoing personality and bone dysplasia. We report the first case of a five-year-old Colombian boy of mixed race ancestry (mestizo), with clinical features of microcephaly, prominent and narrow nose, arched palate, amelogenesis imperfecta, short stature, tall and narrow pelvis, disproportionate shortening of fore-arms and legs, and mild coxa vara. Analysis of the PCNT gene by sequencing showed the presence of a nucleotide change in exon 10, c. 1468C>T, evidencing a new mutation not reported in the literature for microcephalic osteodysplastic primordial dwarfism. The new mutation identified in this case could be associated with the severity of the phenotypic expression of the disease, resulting in the extreme short stature of the patient. Further studies are required to reach an explanation that can justify such findings, and it is vital to emphasize the importance of detection and follow-up by the epidemiological surveillance groups in birth defects and rare diseases.

  8. Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I.

    Science.gov (United States)

    Abdel-Salam, Ghada M H; Abdel-Hamid, Mohamed S; Hassan, Nihal A; Issa, Mahmoud Y; Effat, Laila; Ismail, Samira; Aglan, Mona S; Zaki, Maha S

    2013-08-01

    We describe five patients from three different families with microcephalic osteodysplastic primordial dwarfism type I (MOPD I), which was molecularly confirmed by homozygosity for the g.51G >A and g.55G >A mutations in RNU4ATAC, respectively. The patients showed the classical phenotype and demonstrated in addition variable degrees of gyration abnormalities and malformations of the callosal body with an interhemispheric cyst. One patient also showed underdevelopment of the cerebellar vermis. This confirms that cortical malformations should be considered cardinal manifestations of MOPD I. Oculocutaneous albinism, brain hemorrhage and chilblains have been found to be associated with MOPD I. The present study showed lack of retinal pigmentation in three patients of whom two had an unusually fair complexion of hair and skin. One patient was found to have a hematoma in the left thalamus. This may indicate that both pigmentary abnormalities and vascular anomalies may be part of the phenotype of MOPD I as well. Copyright © 2013 Wiley Periodicals, Inc.

  9. Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene.

    Science.gov (United States)

    Piane, Maria; Della Monica, Matteo; Piatelli, Gianluca; Lulli, Patrizia; Lonardo, Fortunato; Chessa, Luciana; Scarano, Gioacchino

    2009-11-01

    We report on a 3-year-old boy with prenatal onset of proportionate dwarfism, postnatal severe microcephaly, high forehead with receded hairline, sparse scalp hair, beaked nose, mild retrognathia and hypotonia diagnosed at birth as Seckel syndrome. At age 3 years, he became paralyzed due to a cerebrovascular malformation. Based on the clinical and radiological features showing evidence of skeletal dysplasia, the diagnosis was revised to Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome. Western blot analysis of the patient's lymphoblastoid cell line lysate showed the absence of the protein pericentrin. Subsequent molecular analysis identified a novel homozygous single base insertion (c.1527_1528insA) in exon 10 of the PCNT gene, which leads to a frameshift (Treo510fs) and to premature protein truncation. PCNT mutations must be considered diagnostic of MOPD II syndrome. A possible role of pericentrin in the development of cerebral vessels is suggested. Copyright 2009 Wiley-Liss, Inc.

  10. Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesis.

    Science.gov (United States)

    Unal, Sule; Alanay, Yasemin; Cetin, Mualla; Boduroglu, Koray; Utine, Eda; Cormier-Daire, Valerie; Huber, Celine; Ozsurekci, Yasemin; Kilic, Esra; Simsek Kiper, Ozlem Pelin; Gumruk, Fatma

    2014-02-01

    Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a rare primordial dwarfism that is similar to Seckel syndrome. Seckel syndrome is known to be associated with various hematological abnormalities; however, hematological findings in MOPD II patients have not been previously reported. The present study aimed to describe the hematological findings in a series of eight patients with MOPD II from a single center. The study included eight patients with MOPD II that were analyzed via molecular testing, and physical and laboratory examinations. Molecular testing showed that seven of the eight patients had pericentrin (PCNT) gene mutations. Hematological evaluation showed that 7 (87.5%) patients had thrombocytosis, 6 (75%) had leukocytosis, 5 (62.5%) had both leukocytosis and thrombocytosis, and 2 (25%) had anemia. We report leukocytosis and thrombocytosis as a common hematologic abnormality in patients with MOPD II. The present findings may improve our understanding of the potential function of the PCNT gene in hematopoietic cell proliferation and differentiation. © 2013 Wiley Periodicals, Inc.

  11. Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.

    Science.gov (United States)

    Willems, M; Geneviève, D; Borck, G; Baumann, C; Baujat, G; Bieth, E; Edery, P; Farra, C; Gerard, M; Héron, D; Leheup, B; Le Merrer, M; Lyonnet, S; Martin-Coignard, D; Mathieu, M; Thauvin-Robinet, C; Verloes, A; Colleaux, L; Munnich, A; Cormier-Daire, V

    2010-12-01

    Microcephalic osteodysplastic primordial dwarfism type II (MOPD II, MIM 210720) and Seckel syndrome (SCKL, MIM 210600) belong to the primordial dwarfism group characterised by intrauterine growth retardation, severe proportionate short stature, and pronounced microcephaly. MOPD II is distinct from SCKL by more severe growth retardation, radiological abnormalities, and absent or mild mental retardation. Seckel syndrome is associated with defective ATR dependent DNA damage signalling. In 2008, loss-of-function mutations in the pericentrin gene (PCNT) have been identified in 28 patients, including 3 SCKL and 25 MOPDII cases. This gene encodes a centrosomal protein which plays a key role in the organisation of mitotic spindles. The aim of this study was to analyse PCNT in a large series of SCKL-MOPD II cases to further define the clinical spectrum associated with PCNT mutations. Among 18 consanguineous families (13 SCKL and 5 MOPDII) and 6 isolated cases (3 SCKL and 3 MOPD II), 13 distinct mutations were identified in 5/16 SCKL and 8/8 MOPDII including five stop mutations, five frameshift mutations, two splice site mutations, and one apparent missense mutation affecting the last base of exon 19. Moreover, we demonstrated that this latter mutation leads to an abnormal splicing with a predicted premature termination of translation. The clinical analysis of the 5 SCKL cases with PCNT mutations showed that they all presented minor skeletal changes and clinical features compatible with MOPDII diagnosis. It is therefore concluded that, despite variable severity, MOPDII is a genetically homogeneous condition due to loss-of-function of pericentrin.

  12. Identification of two novel critical mutations in PCNT gene resulting in microcephalic osteodysplastic primordial dwarfism type II associated with multiple intracranial aneurysms.

    Science.gov (United States)

    Li, Fei-Feng; Wang, Xu-Dong; Zhu, Min-Wei; Lou, Zhi-Hong; Zhang, Qiong; Zhu, Chun-Yu; Feng, Hong-Lin; Lin, Zhi-Guo; Liu, Shu-Lin

    2015-12-01

    Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a highly detrimental human autosomal inherited recessive disorder. The hallmark characteristics of this disease are intrauterine and postnatal growth restrictions, with some patients also having cerebrovascular problems such as cerebral aneurysms. The genomic basis behind most clinical features of MOPD II remains largely unclear. The aim of this work was to identify the genetic defects in a Chinese family with MOPD II associated with multiple intracranial aneurysms. The patient had typical MOPD II syndrome, with subarachnoid hemorrhage and multiple intracranial aneurysms. We identified three novel mutations in the PCNT gene, including one single base alteration (9842A>C in exon 45) and two deletions (Del-C in exon 30 and Del-16 in exon 41). The deletions were co-segregated with the affected individual in the family and were not present in the control population. Computer modeling demonstrated that the deletions may cause drastic changes on the secondary and tertiary structures, affecting the hydrophilicity and hydrophobicity of the mutant proteins. In conclusion, we identified two novel mutations in the PCNT gene associated with MOPD II and intracranial aneurysms, and the mutations were expected to alter the stability and functioning of the protein by computer modeling.

  13. A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder.

    Science.gov (United States)

    Abdel-Salam, Ghada M H; Miyake, Noriko; Eid, Maha M; Abdel-Hamid, Mohamed S; Hassan, Nihal A; Eid, Ola M; Effat, Laila K; El-Badry, Tarek H; El-Kamah, Ghada Y; El-Darouti, Mohamed; Matsumoto, Naomichi

    2011-11-01

    The designation microcephalic osteodysplastic primordial dwarfism (MOPD) refers to a group of autosomal recessive disorders, comprising microcephaly, growth retardation, and a skeletal dysplasia. The different types of MOPD have been delineated on the basis of clinical, radiological, and genetic criteria. We describe two brothers, born to healthy, consanguineous parents, with intrauterine and postnatal growth retardation, microcephaly with abnormal gyral pattern and partial agenesis of corpus callosum, and skeletal anomalies reminiscent of those described in MOPD type I. This was confirmed by the identification of the homozygous g.55G > A mutation of RNU4ATAC encoding U4atac snRNA. The sibs had yellowish-gray hair, fair skin, and deficient retinal pigmentation. Skin biopsy showed abnormal melanin function but OCA genes were normal. The older sib had an intracranial hemorrhage at 1 week after birth, the younger developed chilblains-like lesions at the age 2½ years old but analysis of the SAMHD1 and TREX1 genes did not show any mutations. To the best of our knowledge, vasculopathy and pigmentary disorders have not been reported in MOPD I. Copyright © 2011 Wiley Periodicals, Inc.

  14. Bone structure in two adult subjects with impaired minor spliceosome function resulting from RNU4ATAC mutations causing microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1).

    Science.gov (United States)

    Krøigård, Anne Bruun; Frost, Morten; Larsen, Martin Jakob; Ousager, Lilian Bomme; Frederiksen, Anja Lisbeth

    2016-11-01

    Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1), or Taybi-Linder syndrome is characterized by distinctive skeletal dysplasia, severe intrauterine and postnatal growth retardation, microcephaly, dysmorphic features, and neurological malformations. It is an autosomal recessive disorder caused by homozygous or compound heterozygous mutations in the RNU4ATAC gene resulting in impaired function of the minor spliceosome. Here, we present the first report on bone morphology, bone density and bone microstructure in two adult MOPD1 patients and applied radiographs, dual energy X-ray absorptiometry, high-resolution peripheral quantitative computed tomography and biochemical evaluation. The MOPD1 patients presented with short stature, low BMI but normal macroscopic bone configuration. Bone mineral density was low. Compared to Danish reference data, total bone area, cortical bone area, cortical thickness, total bone density, cortical bone density, trabecular bone density and trabecular bone volume per tissue volume (BV/TV) were all low. These findings may correlate to the short stature and low body weight of the MOPD1 patients. Our findings suggest that minor spliceosome malfunction may be associated with altered bone modelling. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

  15. Primordial dwarfism: an update.

    Science.gov (United States)

    Alkuraya, Fowzan S

    2015-02-01

    To review the recent advances in the clinical and molecular characterization of primordial dwarfism, an extreme growth deficiency disorder that has its onset during embryonic development and persists throughout life. The last decade has witnessed an unprecedented acceleration in the discovery of genes mutated in primordial dwarfism, from one gene to more than a dozen genes. These genetic discoveries have confirmed the notion that primordial dwarfism is caused by defects in basic cellular processes, most notably centriolar biology and DNA damage response. Fortunately, the increasing number of reported clinical primordial dwarfism subtypes has been accompanied by more accurate molecular classification. Qualitative defects of centrioles with resulting abnormal mitosis dynamics, reduced proliferation, and increased apoptosis represent the predominant molecular pathogenic mechanism in primordial dwarfism. Impaired DNA damage response is another important mechanism, which we now know is not mutually exclusive to abnormal centrioles. Molecular characterization of primordial dwarfism is helping families by enabling more reproductive choices and may pave the way for the future development of therapeutics.

  16. Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

    NARCIS (Netherlands)

    Rauch, Anita; Thiel, Christian T.; Schindler, Detlev; Wick, Ursula; Crow, Yanick J.; Ekici, Arif B.; van Essen, Anthonie J.; Goecke, Timm O.; Al-Gazali, Lihadh; Chrzanowska, Krystyna H.; Zweier, Christiane; Brunner, Han G.; Becker, Kristin; Curry, Cynthia J.; Dallapiccola, Bruno; Devriendt, Koenraad; Dörfler, Arnd; Kinning, Esther; Megarbane, André; Meinecke, Peter; Semple, Robert K.; Spranger, Stephanie; Toutain, Annick; Trembath, Richard C.; Voss, Egbert; Wilson, Louise; Hennekam, Raoul; de Zegher, Francis; Dörr, Helmuth-Günther; Reis, André

    2008-01-01

    Fundamental processes influencing human growth can be revealed by studying extreme short stature. Using genetic linkage analysis, we find that biallelic loss-of-function mutations in the centrosomal pericentrin (PCNT) gene on chromosome 21q22.3 cause microcephalic osteodysplastic primordial dwarfism

  17. Mechanisms and pathways of growth failure in primordial dwarfism.

    Science.gov (United States)

    Klingseisen, Anna; Jackson, Andrew P

    2011-10-01

    The greatest difference between species is size; however, the developmental mechanisms determining organism growth remain poorly understood. Primordial dwarfism is a group of human single-gene disorders with extreme global growth failure (which includes Seckel syndrome, microcephalic osteodysplastic primordial dwarfism I [MOPD] types I and II, and Meier-Gorlin syndrome). Ten genes have now been identified for microcephalic primordial dwarfism, encoding proteins involved in fundamental cellular processes including genome replication (ORC1 [origin recognition complex 1], ORC4, ORC6, CDT1, and CDC6), DNA damage response (ATR [ataxia-telangiectasia and Rad3-related]), mRNA splicing (U4atac), and centrosome function (CEP152, PCNT, and CPAP). Here, we review the cellular and developmental mechanisms underlying the pathogenesis of these conditions and address whether further study of these genes could provide novel insight into the physiological regulation of organism growth.

  18. Effect of recombinant insulin-like growth factor-1 treatment on short-term linear growth in a child with Majewski osteodysplastic primordial dwarfism type II and hepatic insufficiency.

    Science.gov (United States)

    Faienza, Maria Felicia; Acquafredda, Angelo; D'Aniello, Mariangela; Soldano, Lucia; Marzano, Flaviana; Ventura, Annamaria; Cavallo, Luciano

    2013-01-01

    We report the case of a boy affected by severe intrauterine and postnatal growth retardation, microcephaly, facial dysmorphisms and postnecrotic cirrhosis, diagnosed at birth as having Seckel syndrome, and subsequently confirmed as Majewski osteodysplastic primordial dwarfism type II (MOPD II) on the basis of clinical and radiological features of skeletal dysplasia. At our observation (6 years 7 months) he presented height -10.3 standard deviation score (SDS), weight -22.1 SDS, head circumference -8 SDS, delayed bone age of 4 years with respect to chronological age. In consideration of the low levels of insulin-like growth factor-1 (IGF-1) as well as of hepatic insufficiency, we started the treatment with recombinant human IGF-1 (rhIGF-1) at the dose of 0.04 mg/kg in 2 doses/day, with an increase of 0.04 mg/kg after 1 week until the maximum dose of 0.12 mg/kg. We observed an early response to rhIGF-1 treatment, with a shift of height velocity from 1.8 cm/year (-4.6 SDS) at 4 cm/year (-1.9 SDS), and an increase in bone age of 1.5 years during the first 6 months. rhIGF-1 treatment does not seem to be able to replace the physiological action of IGF-1 in patients with MOPD II and hepatic insufficiency, however, it seems to preserve the typical growth pattern of MOPD II patients, avoiding a further widening of the growth deficiency in these subjects.

  19. Microcephalic osteodysplastic primordial dwarfism (MOPD) type I ...

    African Journals Online (AJOL)

    Reda A. Abolila

    2012-07-12

    Jul 12, 2012 ... Neonatal Department, Farwanya Hospital, Kuwait. Received 6 ... is an increased risk of vascular problems, which may cause death at earlier age ... delayed closure of the fontanel, hypoglycemia, and a broad forehead which ...

  20. Primordial dwarfism: overview of clinical and genetic aspects.

    Science.gov (United States)

    Khetarpal, Preeti; Das, Satrupa; Panigrahi, Inusha; Munshi, Anjana

    2016-02-01

    Primordial dwarfism is a group of genetic disorders which include Seckel Syndrome, Silver-Russell Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism types I/III, II and Meier-Gorlin Syndrome. This genetic disorder group is characterized by intra-uterine growth retardation and post-natal growth abnormalities which occur as a result of disorganized molecular and genomic changes in embryonic stage and, thus, it represents a unique area to study growth and developmental abnormalities. Lot of research has been carried out on different aspects; however, a consolidated review that discusses an overall spectrum of this disorder is not accessible. Recent research in this area points toward important molecular and cellular mechanisms in human body that regulate the complexity of growth process. Studies have emerged that have clearly associated with a number of abnormal chromosomal, genetic and epigenetic alterations that can predispose an embryo to develop PD-associated developmental defects. Finding and associating such fundamental changes to its subtypes will help in re-examination of alleged functions at both cellular and developmental levels and thus reveal the intrinsic mechanism that leads to a balanced growth. Although such findings have unraveled a subtle understanding of growth process, we further require active research in terms of identification of reliable biomarkers for different subtypes as an immediate requirement for clinical utilization. It is hoped that further study will advance the understanding of basic mechanisms regulating growth relevant to human health. Therefore, this review has been written with an aim to present an overview of chromosomal, molecular and epigenetic modifications reported to be associated with different subtypes of this heterogenous disorder. Further, latest findings with respect to clinical and molecular genetics research have been summarized to aid the medical fraternity in their clinical utility, for diagnosing disorders

  1. Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

    NARCIS (Netherlands)

    Rauch, Anita; Thiel, Christian T.; Schindler, Detlev; Wick, Ursula; Crow, Yanick J.; Ekici, Arif B.; van Essen, Anthonie J.; Goecke, Timm O.; Al-Gazali, Lihadh; Chrzanowska, Krystyna H.; Zweier, Christiane; Brunner, Han G.; Becker, Kristin; Curry, Cynthia J.; Dallapiccola, Bruno; Devriendt, Koenraad; Doerfler, Arnd; Kinning, Esther; Megarbane, Andre; Meinecke, Peter; Semple, Robert K.; Spranger, Stephanie; Toutain, Annick; Trembath, Richard C.; Voss, Egbert; Wilson, Louise; Hennekam, Raoul; de Zegher, Francis; Doerr, Helmuth-Guenther; Reis, Andre

    2008-01-01

    Fundamental processes influencing human growth can be revealed by studying extreme short stature. Using genetic linkage analysis, we find that biallelic loss- of- function mutations in the centrosomal pericentrin ( PCNT) gene on chromosome 21q22.3 cause microcephalic osteodysplastic primordial

  2. Genetics Home Reference: microcephalic osteodysplastic primordial dwarfism type II

    Science.gov (United States)

    ... replicating itself in an organized, step-by-step fashion. PCNT gene mutations lead to the production of ... 10 All Bulletins Features What is direct-to-consumer genetic testing? What are genome editing and CRISPR- ...

  3. Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.

    Science.gov (United States)

    Mirzaa, Ghayda M; Vitre, Benjamin; Carpenter, Gillian; Abramowicz, Iga; Gleeson, Joseph G; Paciorkowski, Alex R; Cleveland, Don W; Dobyns, William B; O'Driscoll, Mark

    2014-08-01

    Defects in centrosome, centrosomal-associated and spindle-associated proteins are the most frequent cause of primary microcephaly (PM) and microcephalic primordial dwarfism (MPD) syndromes in humans. Mitotic progression and segregation defects, microtubule spindle abnormalities and impaired DNA damage-induced G2-M cell cycle checkpoint proficiency have been documented in cell lines from these patients. This suggests that impaired mitotic entry, progression and exit strongly contribute to PM and MPD. Considering the vast protein networks involved in coordinating this cell cycle stage, the list of potential target genes that could underlie novel developmental disorders is large. One such complex network, with a direct microtubule-mediated physical connection to the centrosome, is the kinetochore. This centromeric-associated structure nucleates microtubule attachments onto mitotic chromosomes. Here, we described novel compound heterozygous variants in CENPE in two siblings who exhibit a profound MPD associated with developmental delay, simplified gyri and other isolated abnormalities. CENPE encodes centromere-associated protein E (CENP-E), a core kinetochore component functioning to mediate chromosome congression initially of misaligned chromosomes and in subsequent spindle microtubule capture during mitosis. Firstly, we present a comprehensive clinical description of these patients. Then, using patient cells we document abnormalities in spindle microtubule organization, mitotic progression and segregation, before modeling the cellular pathogenicity of these variants in an independent cell system. Our cellular analysis shows that a pathogenic defect in CENP-E, a kinetochore-core protein, largely phenocopies PCNT-mutated microcephalic osteodysplastic primordial dwarfism-type II patient cells. PCNT encodes a centrosome-associated protein. These results highlight a common underlying pathomechanism. Our findings provide the first evidence for a kinetochore-based route to

  4. Mutations in XRCC4 cause primordial dwarfism without causing immunodeficiency.

    Science.gov (United States)

    Saito, Shinta; Kurosawa, Aya; Adachi, Noritaka

    2016-08-01

    In successive reports from 2014 to 2015, X-ray repair cross-complementing protein 4 (XRCC4) has been identified as a novel causative gene of primordial dwarfism. XRCC4 is indispensable for non-homologous end joining (NHEJ), the major pathway for repairing DNA double-strand breaks. As NHEJ is essential for V(D)J recombination during lymphocyte development, it is generally believed that abnormalities in XRCC4 cause severe combined immunodeficiency. Contrary to expectations, however, no overt immunodeficiency has been observed in patients with primordial dwarfism harboring XRCC4 mutations. Here, we describe the various XRCC4 mutations that lead to disease and discuss their impact on NHEJ and V(D)J recombination.

  5. RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.

    Science.gov (United States)

    Shamseldin, Hanan; Alazami, Anas M; Manning, Melanie; Hashem, Amal; Caluseiu, Oana; Tabarki, Brahim; Esplin, Edward; Schelley, Susan; Innes, A Micheil; Parboosingh, Jillian S; Lamont, Ryan; Majewski, Jacek; Bernier, Francois P; Alkuraya, Fowzan S

    2015-12-03

    Primary microcephaly is a developmental brain anomaly that results from defective proliferation of neuroprogenitors in the germinal periventricular zone. More than a dozen genes are known to be mutated in autosomal-recessive primary microcephaly in isolation or in association with a more generalized growth deficiency (microcephalic primordial dwarfism), but the genetic heterogeneity is probably more extensive. In a research protocol involving autozygome mapping and exome sequencing, we recruited a multiplex consanguineous family who is affected by severe microcephalic primordial dwarfism and tested negative on clinical exome sequencing. Two candidate autozygous intervals were identified, and the second round of exome sequencing revealed a single intronic variant therein (c.2885+8A>G [p.Ser963(∗)] in RTTN exon 23). RT-PCR confirmed that this change creates a cryptic splice donor and thus causes retention of the intervening 7 bp of the intron and leads to premature truncation. On the basis of this finding, we reanalyzed the exome file of a second consanguineous family affected by a similar phenotype and identified another homozygous change in RTTN as the likely causal mutation. Combined linkage analysis of the two families confirmed that RTTN maps to the only significant linkage peak. Finally, through international collaboration, a Canadian multiplex family affected by microcephalic primordial dwarfism and biallelic mutation of RTTN was identified. Our results expand the phenotype of RTTN-related disorders, hitherto limited to polymicrogyria, to include microcephalic primordial dwarfism with a complex brain phenotype involving simplified gyration. Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  6. Pregnancy in a woman with proportionate (primordial) dwarfism: a case report and literature review

    OpenAIRE

    Vance, C E; Desmond, M; Robinson, A; Johns, J; Zacharin, M; Savarirayan, R; König, K; Warrillow, S; Walker, S P

    2012-01-01

    Primordial dwarfism is a rare form of severe proportionate dwarfism which poses significant challenges in pregnancy. A 27-year-old with primordial dwarfism (height 97 cm, weight 22 kg) and coexisting morbidities of familial hypercholesterolaemia and hypertension presented to our unit. Early pregnancy was complicated by difficult blood pressure control, sinus tachycardia, biochemical hyperthyroidism and insulin-requiring gestational diabetes. Delivery was indicated at 24 weeks with uncontrolla...

  7. Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.

    Science.gov (United States)

    Bicknell, Louise S; Walker, Sarah; Klingseisen, Anna; Stiff, Tom; Leitch, Andrea; Kerzendorfer, Claudia; Martin, Carol-Anne; Yeyati, Patricia; Al Sanna, Nouriya; Bober, Michael; Johnson, Diana; Wise, Carol; Jackson, Andrew P; O'Driscoll, Mark; Jeggo, Penny A

    2011-02-27

    Studies into disorders of extreme growth failure (for example, Seckel syndrome and Majewski osteodysplastic primordial dwarfism type II) have implicated fundamental cellular processes of DNA damage response signaling and centrosome function in the regulation of human growth. Here we report that mutations in ORC1, encoding a subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. We establish that these mutations disrupt known ORC1 functions including pre-replicative complex formation and origin activation. ORC1 deficiency perturbs S-phase entry and S-phase progression. Additionally, we show that Orc1 depletion in zebrafish is sufficient to markedly reduce body size during rapid embryonic growth. Our data suggest a model in which ORC1 mutations impair replication licensing, slowing cell cycle progression and consequently impeding growth during development, particularly at times of rapid proliferation. These findings establish a novel mechanism for the pathogenesis of microcephalic dwarfism and show a surprising but important developmental impact of impaired origin licensing.

  8. Pregnancy in a woman with proportionate (primordial) dwarfism: a case report and literature review.

    Science.gov (United States)

    Vance, C E; Desmond, M; Robinson, A; Johns, J; Zacharin, M; Savarirayan, R; König, K; Warrillow, S; Walker, S P

    2012-09-01

    Primordial dwarfism is a rare form of severe proportionate dwarfism which poses significant challenges in pregnancy. A 27-year-old with primordial dwarfism (height 97 cm, weight 22 kg) and coexisting morbidities of familial hypercholesterolaemia and hypertension presented to our unit. Early pregnancy was complicated by difficult blood pressure control, sinus tachycardia, biochemical hyperthyroidism and insulin-requiring gestational diabetes. Delivery was indicated at 24 weeks with uncontrollable hypertension, progressive renal impairment and intrauterine growth restriction. A caesarean section was performed under general anaesthesia, resulting in the delivery of a 486 g male infant. This case highlights the difficulties of managing pregnancy in a woman with primordial dwarfism. Her limited capacity to respond to the physiological demands of pregnancy created a life-threatening situation, culminating in profound preterm birth.

  9. Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation.

    Science.gov (United States)

    Nair, Pratibha; Hamzeh, Abdul Rezzak; Mohamed, Madiha; Saif, Fatima; Tawfiq, Nafisa; El Halik, Majdi; Al-Ali, Mahmoud Taleb; Bastaki, Fatma

    2016-08-01

    Microcephaly is a rare neurological condition, both in isolation and when it occurs as part of a syndrome. One of the syndromic forms of microcephaly is microcephaly, seizures and developmental delay (MCSZ) (OMIM #613402), a rare autosomal recessive neurodevelopmental disorder with a range of phenotypic severity, and known to be caused by mutations in the polynucleotide kinase 3' phosphatase (PNKP) gene. The PNK protein is a key enzyme involved in the repair of single and double stranded DNA breaks, a process which is particularly important in the nervous system. We describe an Emirati patient who presented with microcephaly, short stature, uncontrollable tonic-clonic seizures, facial dysmorphism, and developmental delay, while at the same time showing evidence of brain atrophy and agenesis of the corpus callosum. We used whole exome sequencing to identify homozygosity for a missense c.1385G > C (p.Arg462Pro) mutation in PNKP in the patient and heterozygosity for this mutation in her consanguineous parents. The Arg 462 residue forms a part of the lid subdomain helix of the P-loop Kinase domain. Although our patient's phenotype resembled that of MCSZ, the short stature and evidence of brain atrophy distinguished it from other classic cases of the condition. The report raises the question of whether to consider this case as an atypical variant of MCSZ or as a novel form of microcephalic primordial dwarfism. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  10. Genomic analysis of primordial dwarfism reveals novel disease genes.

    Science.gov (United States)

    Shaheen, Ranad; Faqeih, Eissa; Ansari, Shinu; Abdel-Salam, Ghada; Al-Hassnan, Zuhair N; Al-Shidi, Tarfa; Alomar, Rana; Sogaty, Sameera; Alkuraya, Fowzan S

    2014-02-01

    Primordial dwarfism (PD) is a disease in which severely impaired fetal growth persists throughout postnatal development and results in stunted adult size. The condition is highly heterogeneous clinically, but the use of certain phenotypic aspects such as head circumference and facial appearance has proven helpful in defining clinical subgroups. In this study, we present the results of clinical and genomic characterization of 16 new patients in whom a broad definition of PD was used (e.g., 3M syndrome was included). We report a novel PD syndrome with distinct facies in two unrelated patients, each with a different homozygous truncating mutation in CRIPT. Our analysis also reveals, in addition to mutations in known PD disease genes, the first instance of biallelic truncating BRCA2 mutation causing PD with normal bone marrow analysis. In addition, we have identified a novel locus for Seckel syndrome based on a consanguineous multiplex family and identified a homozygous truncating mutation in DNA2 as the likely cause. An additional novel PD disease candidate gene XRCC4 was identified by autozygome/exome analysis, and the knockout mouse phenotype is highly compatible with PD. Thus, we add a number of novel genes to the growing list of PD-linked genes, including one which we show to be linked to a novel PD syndrome with a distinct facial appearance. PD is extremely heterogeneous genetically and clinically, and genomic tools are often required to reach a molecular diagnosis.

  11. Mutations in the NHEJ component XRCC4 cause primordial dwarfism.

    Science.gov (United States)

    Murray, Jennie E; van der Burg, Mirjam; IJspeert, Hanna; Carroll, Paula; Wu, Qian; Ochi, Takashi; Leitch, Andrea; Miller, Edward S; Kysela, Boris; Jawad, Alireza; Bottani, Armand; Brancati, Francesco; Cappa, Marco; Cormier-Daire, Valerie; Deshpande, Charu; Faqeih, Eissa A; Graham, Gail E; Ranza, Emmanuelle; Blundell, Tom L; Jackson, Andrew P; Stewart, Grant S; Bicknell, Louise S

    2015-03-05

    Non-homologous end joining (NHEJ) is a key cellular process ensuring genome integrity. Mutations in several components of the NHEJ pathway have been identified, often associated with severe combined immunodeficiency (SCID), consistent with the requirement for NHEJ during V(D)J recombination to ensure diversity of the adaptive immune system. In contrast, we have recently found that biallelic mutations in LIG4 are a common cause of microcephalic primordial dwarfism (MPD), a phenotype characterized by prenatal-onset extreme global growth failure. Here we provide definitive molecular genetic evidence supported by biochemical, cellular, and immunological data for mutations in XRCC4, encoding the obligate binding partner of LIG4, causing MPD. We report the identification of biallelic mutations in XRCC4 in five families. Biochemical and cellular studies demonstrate that these alterations substantially decrease XRCC4 protein levels leading to reduced cellular ligase IV activity. Consequently, NHEJ-dependent repair of ionizing-radiation-induced DNA double-strand breaks is compromised in XRCC4 cells. Similarly, immunoglobulin junctional diversification is impaired in cells. However, immunoglobulin levels are normal, and individuals lack overt signs of immunodeficiency. Additionally, in contrast to individuals with LIG4 mutations, pancytopenia leading to bone marrow failure has not been observed. Hence, alterations that alter different NHEJ proteins give rise to a phenotypic spectrum, from SCID to extreme growth failure, with deficiencies in certain key components of this repair pathway predominantly exhibiting growth deficits, reflecting differential developmental requirements for NHEJ proteins to support growth and immune maturation. Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  12. Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

    NARCIS (Netherlands)

    de Munnik, Sonja A.; Otten, Barto J.; Schoots, Jeroen; Bicknell, Louise S.; Aftimos, Salim; Al-Aama, Jumana Y.; van Bever, Yolande; Bober, Michael B.; Borm, George F.; Clayton-Smith, Jill; Deal, Cheri L.; Edrees, Alaa Y.; Feingold, Murray; Fryer, Alan; van Hagen, Johanna M.; Hennekam, Raoul C.; Jansweijer, Maaike C. E.; Johnson, Diana; Kant, Sarina G.; Opitz, John M.; Ramadevi, A. Radha; Reardon, Willie; Ross, Alison; Sarda, Pierre; Schrander-Stumpel, Constance T. R. M.; Sluiter, A. Erik; Temple, I. Karen; Terhal, Paulien A.; Toutain, Annick; Wise, Carol A.; Wright, Michael; Skidmore, David L.; Samuels, Mark E.; Hoefsloot, Lies H.; Knoers, Nine V. A. M.; Brunner, Han G.; Jackson, Andrew P.; Bongers, Ernie M. H. F.

    2012-01-01

    MeierGorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by primordial dwarfism, microtia, and patellar aplasia/hypoplasia. Recently, mutations in the ORC1, ORC4, ORC6, CDT1, and CDC6 genes, encoding components of the pre-replication complex, have been identified. This complex

  13. Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

    NARCIS (Netherlands)

    de Munnik, S.A.; Otten, B.J.; Schoots, J.; Bicknell, L.S.; Aftimos, S.; Al-Aama, J.Y.; van Bever, Y.; Bober, M.B.; Borm, G.F.; Clayton-Smith, J.; Deal, C.L.; Edrees, A.Y.; Feingold, M.; Fryer, A.; van Hagen, J.M.; Hennekam, R.C.M.; Jansweijer, M.C.E.; Johnson, D.; Kant, S.G.; Opitz, J.M.; Ramadevi, A.R.; Reardon, W.; Ross, A.; Sarda, P.; Schrander-Stumpel, C.T.R.M.; Sluiter, A.E.; Temple, I.K.; Terhal, P.A.; Toutain, A.; Wise, C.A.; Wright, M.; Skidmore, D.L.; Samuels, M.E.; Hoefsloot, L.H.; Knoers, N.V.A.M.; Brunner, H.G.; Jackson, A.P.; Bongers, M.H.F.

    2012-01-01

    Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by primordial dwarfism, microtia, and patellar aplasia/hypoplasia. Recently, mutations in the ORC1, ORC4, ORC6, CDT1, and CDC6 genes, encoding components of the pre-replication complex, have been identified. This

  14. Novel Microcephalic Primordial Dwarfism Disorder Associated with Variants in the Centrosomal Protein Ninein

    DEFF Research Database (Denmark)

    Dauber, Andrew; LaFranchi, Stephen H.; Maliga, Zoltan

    2012-01-01

    Context: Microcephalic primordial dwarfism (MPD) is a rare, severe form of human growth failure in which growth restriction is evident in utero and continues into postnatal life. Single causative gene defects have been identified in a number of patients with MPD, and all involve genes fundamental...

  15. TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.

    Science.gov (United States)

    Harley, Margaret E; Murina, Olga; Leitch, Andrea; Higgs, Martin R; Bicknell, Louise S; Yigit, Gökhan; Blackford, Andrew N; Zlatanou, Anastasia; Mackenzie, Karen J; Reddy, Kaalak; Halachev, Mihail; McGlasson, Sarah; Reijns, Martin A M; Fluteau, Adeline; Martin, Carol-Anne; Sabbioneda, Simone; Elcioglu, Nursel H; Altmüller, Janine; Thiele, Holger; Greenhalgh, Lynn; Chessa, Luciana; Maghnie, Mohamad; Salim, Mahmoud; Bober, Michael B; Nürnberg, Peter; Jackson, Stephen P; Hurles, Matthew E; Wollnik, Bernd; Stewart, Grant S; Jackson, Andrew P

    2016-01-01

    DNA lesions encountered by replicative polymerases threaten genome stability and cell cycle progression. Here we report the identification of mutations in TRAIP, encoding an E3 RING ubiquitin ligase, in patients with microcephalic primordial dwarfism. We establish that TRAIP relocalizes to sites of DNA damage, where it is required for optimal phosphorylation of H2AX and RPA2 during S-phase in response to ultraviolet (UV) irradiation, as well as fork progression through UV-induced DNA lesions. TRAIP is necessary for efficient cell cycle progression and mutations in TRAIP therefore limit cellular proliferation, providing a potential mechanism for microcephaly and dwarfism phenotypes. Human genetics thus identifies TRAIP as a component of the DNA damage response to replication-blocking DNA lesions.

  16. Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations.

    Science.gov (United States)

    Barraza-García, Jimena; Iván Rivera-Pedroza, Carlos; Salamanca, Luis; Belinchón, Alberta; López-González, Vanesa; Sentchordi-Montané, Lucía; del Pozo, Ángela; Santos-Simarro, Fernando; Campos-Barros, Ángel; Lapunzina, Pablo; Guillén-Navarro, Encarna; González-Casado, Isabel; García-Miñaur, Sixto; Heath, Karen E

    2016-01-01

    Primordial dwarfism encompasses rare conditions characterized by severe intrauterine growth retardation and growth deficiency throughout life. Recently, three POC1A mutations have been reported in six families with the primordial dwarfism, SOFT syndrome (Short stature, Onychodysplasia, Facial dysmorphism, and hypoTrichosis). Using a custom-designed Next-generation sequencing skeletal dysplasia panel, we have identified two novel homozygous POC1A mutations in two individuals with primordial dwarfism. The severe growth retardation and the facial profiles are strikingly similar between our patients and those described previously. However, one of our patients was diagnosed with severe foramen magnum stenosis and subglottic tracheal stenosis, malformations not previously associated with this syndrome. Our findings confirm that POC1A mutations cause SOFT syndrome and that mutations in this gene should be considered in patients with severe pre- and postnatal short stature, symmetric shortening of long bones, triangular facies, sparse hair and short, thickened distal phalanges. © 2015 Wiley Periodicals, Inc.

  17. Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance.

    Science.gov (United States)

    Payne, Felicity; Colnaghi, Rita; Rocha, Nuno; Seth, Asha; Harris, Julie; Carpenter, Gillian; Bottomley, William E; Wheeler, Eleanor; Wong, Stephen; Saudek, Vladimir; Savage, David; O'Rahilly, Stephen; Carel, Jean-Claude; Barroso, Inês; O'Driscoll, Mark; Semple, Robert

    2014-09-01

    Structural maintenance of chromosomes (SMC) complexes are essential for maintaining chromatin structure and regulating gene expression. Two the three known SMC complexes, cohesin and condensin, are important for sister chromatid cohesion and condensation, respectively; however, the function of the third complex, SMC5-6, which includes the E3 SUMO-ligase NSMCE2 (also widely known as MMS21) is less clear. Here, we characterized 2 patients with primordial dwarfism, extreme insulin resistance, and gonadal failure and identified compound heterozygous frameshift mutations in NSMCE2. Both mutations reduced NSMCE2 expression in patient cells. Primary cells from one patient showed increased micronucleus and nucleoplasmic bridge formation, delayed recovery of DNA synthesis, and reduced formation of foci containing Bloom syndrome helicase (BLM) after hydroxyurea-induced replication fork stalling. These nuclear abnormalities in patient dermal fibroblast were restored by expression of WT NSMCE2, but not a mutant form lacking SUMO-ligase activity. Furthermore, in zebrafish, knockdown of the NSMCE2 ortholog produced dwarfism, which was ameliorated by reexpression of WT, but not SUMO-ligase-deficient NSMCE. Collectively, these findings support a role for NSMCE2 in recovery from DNA damage and raise the possibility that loss of its function produces dwarfism through reduced tolerance of replicative stress.

  18. Dwarfism

    Science.gov (United States)

    ... and Treatments? There is no cure or specific treatment for dwarfism that's been caused by a genetic disorder. Little ... of doing things in the average-size world. Treatment often includes providing emotional support for people and families living with dwarfism. It's not just that little people have to ...

  19. Dwarfism

    Science.gov (United States)

    ... people with dwarfism in modern movies often includes stereotypes. Misconceptions can impact a person's self-esteem and ... logo are trademarks of Mayo Foundation for Medical Education and Research. © 1998-2018 Mayo Foundation for Medical ...

  20. POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.

    Science.gov (United States)

    Shaheen, Ranad; Faqeih, Eissa; Shamseldin, Hanan E; Noche, Ramil R; Sunker, Asma; Alshammari, Muneera J; Al-Sheddi, Tarfa; Adly, Nouran; Al-Dosari, Mohammed S; Megason, Sean G; Al-Husain, Muneera; Al-Mohanna, Futwan; Alkuraya, Fowzan S

    2012-08-10

    Primordial dwarfism (PD) is a phenotype characterized by profound growth retardation that is prenatal in onset. Significant strides have been made in the last few years toward improved understanding of the molecular underpinning of the limited growth that characterizes the embryonic and postnatal development of PD individuals. These include impaired mitotic mechanics, abnormal IGF2 expression, perturbed DNA-damage response, defective spliceosomal machinery, and abnormal replication licensing. In three families affected by a distinct form of PD, we identified a founder truncating mutation in POC1A. This gene is one of two vertebrate paralogs of POC1, which encodes one of the most abundant proteins in the Chlamydomonas centriole proteome. Cells derived from the index individual have abnormal mitotic mechanics with multipolar spindles, in addition to clearly impaired ciliogenesis. siRNA knockdown of POC1A in fibroblast cells recapitulates this ciliogenesis defect. Our findings highlight a human ciliopathy syndrome caused by deficiency of a major centriolar protein. Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  1. Primordial dwarfism gene maintains Lin28 expression to safeguard embryonic stem cells from premature differentiation.

    Science.gov (United States)

    Dai, Qian; Luan, Guangxin; Deng, Li; Lei, Tingjun; Kang, Han; Song, Xu; Zhang, Yujun; Xiao, Zhi-Xiong; Li, Qintong

    2014-05-08

    Primordial dwarfism (PD) is characterized by global growth failure, both during embryogenesis and postnatally. Loss-of-function germline mutations in La ribonucleoprotein domain family, member 7 (LAPR7) have recently been linked to PD. Paradoxically, LARP7 deficiency was previously assumed to be associated with increased cell growth and proliferation via activation of positive transcription elongation factor b (P-TEFb). Here, we show that Larp7 deficiency likely does not significantly increase P-TEFb activity. We further discover that Larp7 knockdown does not affect pluripotency but instead primes embryonic stem cells (ESCs) for differentiation via downregulation of Lin28, a positive regulator of organismal growth. Mechanistically, we show that Larp7 interacts with a poly(A) polymerase Star-PAP to maintain Lin28 mRNA stability. We propose that proper regulation of Lin28 and PTEFb is essential for embryonic cells to achieve a sufficient number of cell divisions prior to differentiation and ultimately to maintain proper organismal size. Copyright © 2014 The Authors. Published by Elsevier Inc. All rights reserved.

  2. Profound microcephaly, primordial dwarfism with developmental brain malformations: a new syndrome.

    Science.gov (United States)

    Abdel-Salam, Ghada M H; Abdel-Hamid, Mohamed S; Saleem, Sahar N; Ahmed, Mahmoud K H; Issa, Mahmoud; Effat, Laila K; Kayed, Hisham F; Zaki, Maha S; Gaber, Khaled R

    2012-08-01

    We describe two sibs with a lethal form of profound congenital microcephaly, intrauterine and postnatal growth retardation, subtle skeletal changes, and poorly developed brain. The sibs had striking absent cranial vault with sloping of the forehead, large beaked nose, relatively large ears, and mandibular micro-retrognathia. Brain magnetic resonance imaging (MRI) revealed extremely simplified gyral pattern, large interhemispheric cyst and agenesis of corpus callosum, abnormally shaped hippocampus, and proportionately affected cerebellum and brainstem. In addition, fundus examination showed foveal hypoplasia with optic nerve atrophy. No abnormalities of the internal organs were found. This profound form of microcephaly was identified at 17 weeks gestation by ultrasound and fetal brain MRI helped in characterizing the developmental brain malformations in the second sib. Molecular analysis excluded mutations in potentially related genes such as RNU4ATAC, SLC25A19, and ASPM. These clinical and imaging findings are unlike that of any recognized severe forms of microcephaly which is believed to be a new microcephalic primordial dwarfism (MPD) with developmental brain malformations with most probably autosomal recessive inheritance based on consanguinity and similarly affected male and female sibs. Copyright © 2012 Wiley Periodicals, Inc.

  3. Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis.

    Science.gov (United States)

    Koparir, Asuman; Karatas, Omer F; Yuceturk, Betul; Yuksel, Bayram; Bayrak, Ali O; Gerdan, Omer F; Sagiroglu, Mahmut S; Gezdirici, Alper; Kirimtay, Koray; Selcuk, Ece; Karabay, Arzu; Creighton, Chad J; Yuksel, Adnan; Ozen, Mustafa

    2015-10-01

    POC1A encodes a WD repeat protein localizing to centrioles and spindle poles and is associated with short stature, onychodysplasia, facial dysmorphism and hypotrichosis (SOFT) syndrome. These main features are related to the defect in cell proliferation of chondrocytes in growth plate. In the current study, we aimed at identifying the molecular basis of two patients with primordial dwarfism (PD) in a single family through utilization of whole-exome sequencing. A novel homozygous p.T120A missense mutation was detected in POC1A in both patients, a known causative gene of SOFT syndrome, and confirmed using Sanger sequencing. To test the pathogenicity of the detected mutation, primary fibroblast cultures obtained from the patients and a control individual were used. For evaluating the global gene expression profile of cells carrying p.T120A mutation in POC1A, we performed the gene expression array and compared their expression profiles to those of control fibroblast cells. The gene expression array analysis showed that 4800 transcript probes were significantly deregulated in cells with p.T120A mutation in comparison to the control. GO term association results showed that deregulated genes are mostly involved in the extracellular matrix and cytoskeleton. Furthermore, the p.T120A missense mutation in POC1A caused the formation of abnormal mitotic spindle structure, including supernumerary centrosomes, and changes in POC1A were accompanied by alterations in another centrosome-associated WD repeat protein p80-katanin. As a result, we identified a novel mutation in POC1A of patients with PD and showed that this mutation causes the formation of multiple numbers of centrioles and multipolar spindles with abnormal chromosome arrangement. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  4. De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

    Science.gov (United States)

    Burrage, Lindsay C; Charng, Wu-Lin; Eldomery, Mohammad K; Willer, Jason R; Davis, Erica E; Lugtenberg, Dorien; Zhu, Wenmiao; Leduc, Magalie S; Akdemir, Zeynep C; Azamian, Mahshid; Zapata, Gladys; Hernandez, Patricia P; Schoots, Jeroen; de Munnik, Sonja A; Roepman, Ronald; Pearring, Jillian N; Jhangiani, Shalini; Katsanis, Nicholas; Vissers, Lisenka E L M; Brunner, Han G; Beaudet, Arthur L; Rosenfeld, Jill A; Muzny, Donna M; Gibbs, Richard A; Eng, Christine M; Xia, Fan; Lalani, Seema R; Lupski, James R; Bongers, Ernie M H F; Yang, Yaping

    2015-12-03

    Meier-Gorlin syndrome (MGS) is a genetically heterogeneous primordial dwarfism syndrome known to be caused by biallelic loss-of-function mutations in one of five genes encoding pre-replication complex proteins: ORC1, ORC4, ORC6, CDT1, and CDC6. Mutations in these genes cause disruption of the origin of DNA replication initiation. To date, only an autosomal-recessive inheritance pattern has been described in individuals with this disorder, with a molecular etiology established in about three-fourths of cases. Here, we report three subjects with MGS and de novo heterozygous mutations in the 5' end of GMNN, encoding the DNA replication inhibitor geminin. We identified two truncating mutations in exon 2 (the 1(st) coding exon), c.16A>T (p.Lys6(∗)) and c.35_38delTCAA (p.Ile12Lysfs(∗)4), and one missense mutation, c.50A>G (p.Lys17Arg), affecting the second-to-last nucleotide of exon 2 and possibly RNA splicing. Geminin is present during the S, G2, and M phases of the cell cycle and is degraded during the metaphase-anaphase transition by the anaphase-promoting complex (APC), which recognizes the destruction box sequence near the 5' end of the geminin protein. All three GMNN mutations identified alter sites 5' to residue Met28 of the protein, which is located within the destruction box. We present data supporting a gain-of-function mechanism, in which the GMNN mutations result in proteins lacking the destruction box and hence increased protein stability and prolonged inhibition of replication leading to autosomal-dominant MGS. Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  5. Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein.

    Science.gov (United States)

    Dauber, Andrew; Lafranchi, Stephen H; Maliga, Zoltan; Lui, Julian C; Moon, Jennifer E; McDeed, Cailin; Henke, Katrin; Zonana, Jonathan; Kingman, Garrett A; Pers, Tune H; Baron, Jeffrey; Rosenfeld, Ron G; Hirschhorn, Joel N; Harris, Matthew P; Hwa, Vivian

    2012-11-01

    Microcephalic primordial dwarfism (MPD) is a rare, severe form of human growth failure in which growth restriction is evident in utero and continues into postnatal life. Single causative gene defects have been identified in a number of patients with MPD, and all involve genes fundamental to cellular processes including centrosome functions. The objective of the study was to find the genetic etiology of a novel presentation of MPD. The design of the study was whole-exome sequencing performed on two affected sisters in a single family. Molecular and functional studies of a candidate gene were performed using patient-derived primary fibroblasts and a zebrafish morpholino oligonucleotides knockdown model. Two sisters presented with a novel subtype of MPD, including severe intellectual disabilities. NIN, encoding Ninein, a centrosomal protein critically involved in asymmetric cell division, was identified as a candidate gene, and functional impacts in fibroblasts and zebrafish were studied. From 34,606 genomic variants, two very rare missense variants in NIN were identified. Both probands were compound heterozygotes. In the zebrafish, ninein knockdown led to specific and novel defects in the specification and morphogenesis of the anterior neuroectoderm, resulting in a deformity of the developing cranium with a small, squared skull highly reminiscent of the human phenotype. We identified a novel clinical subtype of MPD in two sisters who have rare variants in NIN. We show, for the first time, that reduction of ninein function in the developing zebrafish leads to specific deficiencies of brain and skull development, offering a developmental basis for the myriad phenotypes in our patients.

  6. Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism.

    Science.gov (United States)

    Shaheen, Ranad; Abdel-Salam, Ghada M H; Guy, Michael P; Alomar, Rana; Abdel-Hamid, Mohamed S; Afifi, Hanan H; Ismail, Samira I; Emam, Bayoumi A; Phizicky, Eric M; Alkuraya, Fowzan S

    2015-09-28

    Primordial dwarfism is a state of extreme prenatal and postnatal growth deficiency, and is characterized by marked clinical and genetic heterogeneity. Two presumably unrelated consanguineous families presented with an apparently novel form of primordial dwarfism in which severe growth deficiency is accompanied by distinct facial dysmorphism, brain malformation (microcephaly, agenesis of corpus callosum, and simplified gyration), and severe encephalopathy with seizures. Combined autozygome/exome analysis revealed a novel missense mutation in WDR4 as the likely causal variant. WDR4 is the human ortholog of the yeast Trm82, an essential component of the Trm8/Trm82 holoenzyme that effects a highly conserved and specific (m(7)G46) methylation of tRNA. The human mutation and the corresponding yeast mutation result in a significant reduction of m(7)G46 methylation of specific tRNA species, which provides a potential mechanism for primordial dwarfism associated with this lesion, since reduced m(7)G46 modification causes a growth deficiency phenotype in yeast. Our study expands the number of biological pathways underlying primordial dwarfism and adds to a growing list of human diseases linked to abnormal tRNA modification.

  7. Perinatal findings of Seckel syndrome: a case report of a fetus showing primordial dwarfism and severe microcephaly.

    Science.gov (United States)

    Takikawa, Keiko Miyachi; Kikuchi, Akihiko; Yokoyama, Akiko; Ono, Kyoko; Iwasawa, Yuki; Sunagawa, Sorahiro; Takagi, Kimiyo; Kawame, Hiroshi; Nakamura, Tomohiko

    2008-01-01

    Seckel syndrome is a rare form of primordial dwarfism and most of the previous reports have been limited to postnatal findings. We report on a fetus showing severe microcephaly, intrauterine growth restriction and a few gyri with shallow sulci on the fetal brain suggesting cortical dysplasia, followed by ultrasound and magnetic resonance imaging in the prenatal period. Cardiotocograph revealed a reassuring fetal status throughout the whole pregnancy period. A male infant weighing 1,556 g was delivered at 39 weeks' gestation, and a diagnosis of Seckel syndrome was made based on postnatal typical findings. Although previous reports on prenatal findings of Seckel syndrome are quite limited, we think that our case presents typical features of a fetus affected by this syndrome. When prenatal ultrasound shows severe microcephaly and intrauterine growth restriction, this rare syndrome should be included in the differential diagnosis. Moreover, magnetic resonance imaging of the affected fetal brain provides further diagnostic clues. Copyright 2008 S. Karger AG, Basel.

  8. Disease: H00991 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00991 Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II) Microc...ephalic osteodysplastic primordial dwarfism, type II (MOPD II) is an autosomal recessive condition character...lic osteodysplastic primordial dwarfism, type I (MOPD I). ICD-10: Q87.1 MeSH: C56... ... TITLE ... Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical fi... gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism

  9. Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism.

    Science.gov (United States)

    Shaheen, Ranad; Al Tala, Saeed; Almoisheer, Agaadir; Alkuraya, Fowzan S

    2014-12-01

    Primordial dwarfism (PD) is a heterogeneous clinical entity characterised by severe prenatal and postnatal growth deficiency. Despite the recent wave of disease gene discovery, the causal mutations in many PD patients remain unknown. To describe a PD family that maps to a novel locus. Clinical, imaging and laboratory phenotyping of a new family with PD followed by autozygosity mapping, linkage analysis and candidate gene sequencing. We describe a multiplex consanguineous Saudi family in which two full siblings and one half-sibling presented with classical features of Seckel syndrome in addition to optic nerve hypoplasia. We were able to map the phenotype to a single novel locus on 4q25-q28.2, in which we identified a five base-pair deletion in PLK4, which encodes a master regulator of centriole duplication. Our discovery further confirms the role of genes involved in centriole biology in the pathogenesis of PD. 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.

  10. Disease: H00993 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00993 Microcephalic osteodysplastic primordial dwarfism, type I (MOPD I); Taybi-L...inder syndrome Microcephalic osteodysplastic primordial dwarfism, type I (MOPD I) is a condition comprising ...halic osteodysplastic primordial dwarfism, type II (MOPD II). ICD-10: Q87.1 MeSH:...se of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder. ... JOURNAL ... Am J Med Genet A 155A:2885-96 (2011) DOI:10.1002/ajmg.a.34299 ...

  11. Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism.

    Science.gov (United States)

    Alazami, Anas M; Al-Owain, Mohammad; Alzahrani, Fatema; Shuaib, Taghreed; Al-Shamrani, Hussain; Al-Falki, Yahya H; Al-Qahtani, Saleh M; Alsheddi, Tarfa; Colak, Dilek; Alkuraya, Fowzan S

    2012-10-01

    Primordial dwarfism (PD) is a clinically and genetically heterogeneous condition. Various molecular mechanisms are known to underlie the disease including impaired mitotic mechanics, abnormal IGF2 expression, perturbed DNA damage response, defective spliceosomal machinery, and abnormal replication licensing. Here, we describe a syndromic form of PD associated with severe intellectual disability and distinct facial features in a large multiplex Saudi family. Analysis reveals a novel underlying mechanism for PD involving depletion of 7SK, an abundant cellular noncoding RNA (ncRNA), due to mutation of its chaperone LARP7. We show that 7SK levels are tightly linked to LARP7 expression across cell lines, and that this chaperone is ubiquitously expressed in the mouse embryo. The 7SK is known to influence the expression of a wide array of genes through its inhibitory effect on the positive transcription elongation factor b (P-TEFb) as well as its competing role in HMGA1-mediated transcriptional regulation. This study documents a critical role played by ncRNA in human development and adds to the growing list of molecular mechanisms that, when perturbed, converge on the PD phenotype. © 2012 Wiley Periodicals, Inc.

  12. Dyssegmental dwarfism

    International Nuclear Information System (INIS)

    Miething, R.; Stoever, B.; Tuengerthal, S.; Winterling, D.; Svejcar, J.

    1981-01-01

    Report on 2 cases of dyssegmental dwarfism, a rare lethal form of dwarfism. Both male newborns died from asphyxia immediately after delivery. Its features are malformations of the first visceral arch (Pierre-Robin-Syndrome) malformations of all extremities (Camptomicromelia) and severe malformations of the spine (Anisospondyly), with the vertebral changes serving as the main differential diagnostic feature. Among other things, these malformations are due to defective enchondral ossification; and the disease is presumably autosomal recessive. (orig.) [de

  13. Thanatophoric dwarfism

    International Nuclear Information System (INIS)

    Frahm, R.

    1986-01-01

    The brothers and sisters described above show all the important exterior and radiological signs of thanatophoric dwarfism type I. The other described complications of pregnancy such as hydramnios, premature birth or abortion did not occur. According to present day publications a homogeneous heredity have not been noticed, so the risk of a repetition after having a child with thanatophoric dwarfism is given as 1:50 to 1:4 for healthy parents. Ultrasonic controls frequently repeated at short intervals, especially with hydramnios or an atypical development of the skeleton combined with a radiograph and - in case of doubt-fetography enables a diagnosis of thanatophoric dwarfism to be made from about the 18th week of gestation. With a positive diagnosis an interruption of pregnancy is indicated because of the absolutely lethal prognosis. (orig.) [de

  14. Thanatophoric dwarfism

    Energy Technology Data Exchange (ETDEWEB)

    Frahm, R.

    1986-12-01

    The brothers and sisters described above show all the important exterior and radiological signs of thanatophoric dwarfism type I. The other described complications of pregnancy such as hydramnios, premature birth or abortion did not occur. According to present day publications a homogeneous heredity have not been noticed, so the risk of a repetition after having a child with thanatophoric dwarfism is given as 1:50 to 1:4 for healthy parents. Ultrasonic controls frequently repeated at short intervals, especially with hydramnios or an atypical development of the skeleton combined with a radiograph and - in case of doubt-fetography enables a diagnosis of thanatophoric dwarfism to be made from about the 18th week of gestation. With a positive diagnosis an interruption of pregnancy is indicated because of the absolutely lethal prognosis.

  15. Microcephalin and pericentrin regulate mitotic entry via centrosome-associated Chk1

    DEFF Research Database (Denmark)

    Tibelius, Alexandra; Marhold, Joachim; Zentgraf, Hanswalter

    2009-01-01

    Primary microcephaly, Seckel syndrome, and microcephalic osteodysplastic primordial dwarfism type II (MOPD II) are disorders exhibiting marked microcephaly, with small brain sizes reflecting reduced neuron production during fetal life. Although primary microcephaly can be caused by mutations...

  16. [Limb lengthening in dwarfism].

    Science.gov (United States)

    Correll, J; Held, P

    2000-09-01

    Limb lengthening in dwarfism has become a standardised procedure with a good prognosis. In most cases external fixation is used. Gain of leg length up to 15 cm and more is possible in the lower leg and the femur and 8.5 cm in the humerus. Limb lengthening is useful in many cases of dwarfism due to skeletal dysplasia. There are a number of risks and possible complications involved and the procedure also requires considerable time. We report the results of 48 patients with dwarfism operated on in the Orthopädische Kinderklinik Aschau (Orthopaedic Hospital for Children). It must not be recommended as a normal tool in handling the problems of dwarfism, but it makes sense in some cases of dwarfism. We describe and discuss the prerequisites for the operative treatment.

  17. MR imaging of pituitary dwarfism

    International Nuclear Information System (INIS)

    Kashimada, Akio; Machida, Kikuo; Honda, Norinari; Mamiya, Toshio; Takahashi, Taku; Kamano, Tsuyoshi; Muramatsu, Masayuki; Inoue, Yusuke

    1993-01-01

    Pituitary MR imaging was performed in 32 patients with clinically diagnosed pituitary dwarfism and 12 normal controls. The patients were divided into two groups according to the severity of pituitary dwarfism based on endocrinological data. The two patients with severe dwarfism showed transection of the pituitary stalk, ectopic posterior lobe and atrophy of the anterior lobe on MR imaging, while the 27 patients with mild dwarfism showed no abnormal MR findings of the pituitary gland. The former group corresponds to typical pituitary dwarfism and the latter to partial GH deficiency, which was recently proposed as another type of pituitary dwarfism. In conclusion, pituitary MR imaging may differentiate partial GH deficiency from typical (stalk-transected) pituitary dwarfism. (author)

  18. MR imaging of pituitary dwarfism

    Energy Technology Data Exchange (ETDEWEB)

    Kashimada, Akio; Machida, Kikuo; Honda, Norinari; Mamiya, Toshio; Takahashi, Taku; Kamano, Tsuyoshi; Muramatsu, Masayuki; Inoue, Yusuke (Saitama Medical School, Kawagoe (Japan). Medical Center)

    1993-02-01

    Pituitary MR imaging was performed in 32 patients with clinically diagnosed pituitary dwarfism and 12 normal controls. The patients were divided into two groups according to the severity of pituitary dwarfism based on endocrinological data. The two patients with severe dwarfism showed transection of the pituitary stalk, ectopic posterior lobe and atrophy of the anterior lobe on MR imaging, while the 27 patients with mild dwarfism showed no abnormal MR findings of the pituitary gland. The former group corresponds to typical pituitary dwarfism and the latter to partial GH deficiency, which was recently proposed as another type of pituitary dwarfism. In conclusion, pituitary MR imaging may differentiate partial GH deficiency from typical (stalk-transected) pituitary dwarfism. (author).

  19. Primordial nucleosynthesis.

    Science.gov (United States)

    Schramm, D N

    1998-01-06

    With the advent of the new extragalactic deuterium observations, Big Bang nucleosynthesis (BBN) is on the verge of undergoing a transformation. In the past, the emphasis has been on demonstrating the concordance of the BBN model with the abundances of the light isotopes extrapolated back to their primordial values by using stellar and galactic evolution theories. As a direct measure of primordial deuterium is converged upon, the nature of the field will shift to using the much more precise primordial D/H to constrain the more flexible stellar and galactic evolution models (although the question of potential systematic error in 4He abundance determinations remains open). The remarkable success of the theory to date in establishing the concordance has led to the very robust conclusion of BBN regarding the baryon density. This robustness remains even through major model variations such as an assumed first-order quark-hadron phase transition. The BBN constraints on the cosmological baryon density are reviewed and demonstrate that the bulk of the baryons are dark and also that the bulk of the matter in the universe is nonbaryonic. Comparison of baryonic density arguments from Lyman-alpha clouds, x-ray gas in clusters, and the microwave anisotropy are made.

  20. Primordial Nucleosynthesis

    International Nuclear Information System (INIS)

    Coc, Alain

    2013-01-01

    Primordial nucleosynthesis, or Big Bang Nucleosynthesis (BBN), is one of the three evidences for the Big-Bang model, together with the expansion of the Universe and the Cosmic Microwave Background. There is a good global agreement over a range of nine orders of magnitude between abundances of 4 He, D, 3 He and 7 Li deduced from observations, and calculated in primordial nucleosynthesis. This comparison was used to determine the baryonic density of the Universe. For this purpose, it is now superseded by the analysis of the Cosmic Microwave Background (CMB) radiation anisotropies. However, there remain, a yet unexplained, discrepancy of a factor 3-5, between the calculated and observed lithium primordial abundances, that has not been reduced, neither by recent nuclear physics experiments, nor by new observations. We review here the nuclear physics aspects of BBN for the production of 4 He, D, 3 He and 7 Li, but also 6 Li, 9 Be, 11 B and up to CNO isotopes. These are, for instance, important for the initial composition of the matter at the origin of the first stars. Big-Bang nucleosynthesis, that has been used, to first constrain the baryonic density, and the number of neutrino families, remains, a valuable tool to probe the physics of the early Universe, like variation of ''constants'' or alternative theories of gravity.

  1. Primordial Nucleosynthesis

    Science.gov (United States)

    Coc, Alain

    Primordial or big bang nucleosynthesis (BBN) is now a parameter free theory whose predictions are in good overall agreement with observations. However, the 7Li calculated abundance is significantly higher than the one deduced from spectroscopic observations. Most solutions to this lithium problem involve a source of extra neutrons that inevitably leads to an increase of the deuterium abundance. This seems now to be excluded by recent deuterium observations that have drastically reduced the uncertainty on D/H and also calls for improved precision on thermonuclear reaction rates.

  2. Primordial nuclei

    International Nuclear Information System (INIS)

    Anon.

    1995-01-01

    The recent detection of intergalactic helium by NASA's Astro-2 mission backs up two earlier measurements by ESA and the University of California, San Diego, using instruments aboard the Hubble Space Telescope. Taken together, these results give strong evidence that this helium is primordial, confirming a key prediction of the Big Bang theory. The amount of helium the results imply could also account for some of the Universe's invisible dark matter - material which affects galactic motion but is otherwise undetectable. According to theory, helium nuclei formed at around 100 seconds after the Big Bang, but the amount of helium depended on even earlier events. Initially, protons turned into neutrons with the same probability that neutrons turned into protons. But after about one second, the Universe had cooled down enough for the weak interaction to freeze out. Neutrons continued to decay into the slightly lighter protons, whilst the opposite reaction became much more scarce. At around 100 seconds, thermonuclear fusion reactions could begin, and all the neutrons that were left became absorbed into helium nuclei, leaving the remaining protons locked up in hydrogen. The ratio of helium to hydrogen was therefore determined by events occurring when the Universe was just one second old. Standard models of primordial nucleosynthesis fix this ratio at slightly less than 2 5% by mass. All heavier elements were cooked up much later in the stars, and amount to less than 1 % of the Universe's mass. These predictions have been borne out remarkably well by observation, although proof of the primordial origins of hydrogen and helium has remained elusive until now. Big Bang nucleosynthesis goes on to estimate that primordial baryonic matter in the form of light nuclei could account for around 10% of the Universe's dark matter. All three recent measurements used the same technique of looking at distant quasars, some of the most luminous objects in the Universe, to

  3. Mesomelic dwarfism in pseudoachondroplasia.

    Science.gov (United States)

    Song, Hae-Ryong; Li, Qi-Wei; Oh, Chang-Wug; Lee, Kwang-Soo; Koo, Soo Kyung; Jung, Sung-Chul

    2004-09-01

    Pseudoachondroplasia (PSACH) is associated with mutations in the cartilage oligomeric matrix protein (COMP) gene and the clinical characteristics include short stature, deformities of the extremities involving the epiphyses and metaphyses, early onset arthritis, and ligament laxity. PSACH has been considered a rhizomelic form of dwarfism. So far no previous report has described mesomelic shortening of the limbs in PSACH. We reviewed nine patients with a diagnosis of PSACH based on clinical and radiographic examination and mutation analysis of the COMP gene. The mean height in the adults was 116 cm. All patients showed mesomelic dwarfism. The average ratios of radial length to humeral length and tibial length to femoral length were 0.62 and 0.63, respectively. The tibia and the radius showed more severe bony deformity than the femur and humerus. The degree of short stature was related to the site of the mutation in the COMP gene, but there was no correlation between bony deformity and height or gene mutation.

  4. Primordial Spirituality

    Directory of Open Access Journals (Sweden)

    Kees Waaijman

    2010-11-01

    Full Text Available This article explores the primordial spirituality of the Bible, as expressed in names, narratives and prayers. It looks at the nomadic families of Abraham and Sarah, Isaac and Rebecca, Jacob, Lea and Rachel, moving around from Mesopotamia via Canaan into Egypt and vice versa (see Gn 11:31–32; 12:4–5; 27:43; 28:10; 29:4; Gn 24 and 29–31. It analyses their experiences, covering the span between birth and death and listens to their parental concerns about education as survival. It also follows their journeys along the margins of the deserts. It shares their community life as it takes shape in mutual solidarity, mercy and compassion.

  5. Radiologic findings of dwarfism

    Energy Technology Data Exchange (ETDEWEB)

    Hwang, M. S.; Oh, K. K.; Park, C. Y.; Kim, D. H. [Yonsei University, College of Medicine, Seoul (Korea, Republic of); Kim, D. H. [Yonsei Univ., Seoul (Korea, Republic of)

    1981-06-15

    The stature of human is very important factor in human-being, especially in childhood. The stature depends on various different conditions, such as familial factor, constitutional factor, chromosomal anomalies, skeletal disorders, or endocrinopathies. The early diagnosis of dwarfism is very important problem, because if appropriate treatment is delayed, the complication or sequales are more increased. The survey of familial history or patient's past history, detail check up of physical examination, radiological evaluation, and other laboratory examinations are essentially needed for the accurate diagnosis of dwarfism. Among the patients admitted to Yonsei University college of Medicine, Severance Hospital since 1963, with chief complaint of short stature or other associated diseases, an analysis of radiological findings were made for the 72 cases of chromosomal anomalies, skeletal dysplasia, and cretinism in which radiologic evaluation was available. The conclusions are as follows; 1. The cause of short stature are chromosomal anomalies (48 cases), skeletal dysplasia (14 cases) and cretinism (10 cases). 2. in chromosomal anomalies, 43 cases of mongolism and 5 cease of Turner's syndrome are noted. In mongolism, 18 cases among the 30 cases below 1 year old are distributed below the 10 percentile of height. On radiologic findings, 11 paired ribs (22/43), congenital heart disease (14/43), decreased iliac index (8/12), and associated anomalies or diseases, such as pneumonia (14 cases), C1-C2 dislocation (1 case), imperforated anus (1 case), Morgagni's hernia (1 case) and leukemia with sepsis (1 case). In Turner's syndrome, decreased bone density (5/5), positive metacarpal sign (2/5), positive carpal sign (1/5), change of knee joint (3/5), hypoplasia of (1/3), and increased carrying angle of elbows (1/3) are noted.

  6. Radiologic findings of dwarfism

    International Nuclear Information System (INIS)

    Hwang, M. S.; Oh, K. K.; Park, C. Y.; Kim, D. H.; Kim, D. H.

    1981-01-01

    The stature of human is very important factor in human-being, especially in childhood. The stature depends on various different conditions, such as familial factor, constitutional factor, chromosomal anomalies, skeletal disorders, or endocrinopathies. The early diagnosis of dwarfism is very important problem, because if appropriate treatment is delayed, the complication or sequales are more increased. The survey of familial history or patient's past history, detail check up of physical examination, radiological evaluation, and other laboratory examinations are essentially needed for the accurate diagnosis of dwarfism. Among the patients admitted to Yonsei University college of Medicine, Severance Hospital since 1963, with chief complaint of short stature or other associated diseases, an analysis of radiological findings were made for the 72 cases of chromosomal anomalies, skeletal dysplasia, and cretinism in which radiologic evaluation was available. The conclusions are as follows; 1. The cause of short stature are chromosomal anomalies (48 cases), skeletal dysplasia (14 cases) and cretinism (10 cases). 2. in chromosomal anomalies, 43 cases of mongolism and 5 cease of Turner's syndrome are noted. In mongolism, 18 cases among the 30 cases below 1 year old are distributed below the 10 percentile of height. On radiologic findings, 11 paired ribs (22/43), congenital heart disease (14/43), decreased iliac index (8/12), and associated anomalies or diseases, such as pneumonia (14 cases), C1-C2 dislocation (1 case), imperforated anus (1 case), Morgagni's hernia (1 case) and leukemia with sepsis (1 case). In Turner's syndrome, decreased bone density (5/5), positive metacarpal sign (2/5), positive carpal sign (1/5), change of knee joint (3/5), hypoplasia of (1/3), and increased carrying angle of elbows (1/3) are noted

  7. Primordial nucleosynthesis

    International Nuclear Information System (INIS)

    Gustavino, C.; Anders, M.; Bemmerer, D.; Elekes, Z.; Trezzi, D.

    2016-01-01

    Big Bang nucleosynthesis (BBN) describes the production of light nuclei in the early phases of the Universe. For this, precise knowledge of the cosmological parameters, such as the baryon density, as well as the cross section of the fusion reactions involved are needed. In general, the energies of interest for BBN are so low (E < 1 MeV) that nuclear cross section measurements are practically unfeasible at the Earth's surface. As of today, LUNA (Laboratory for Underground Nuclear Astrophysics) has been the only facility in the world available to perform direct measurements of small cross section in a very low background radiation. Owing to the background suppression provided by about 1400 meters of rock at the Laboratori Nazionali del Gran Sasso (LNGS), Italy, and to the high current offered by the LUNA accelerator, it has been possible to investigate cross sections at energies of interest for Big Bang nucleosynthesis using protons, 3 He and alpha particles as projectiles. The main reaction studied in the past at LUNA is the 2 H( 4 He, γ) 6 Li. Its cross section was measured directly, for the first time, in the BBN energy range. Other processes like 2 H(p, γ) 3 He, 3 He( 2 H, p) 4 He and 3 He( 4 He, γ) 7 Be were also studied at LUNA, thus enabling to reduce the uncertainty on the overall reaction rate and consequently on the determination of primordial abundances. The improvements on BBN due to the LUNA experimental data will be discussed and a perspective of future measurements will be outlined. (orig.)

  8. Brain and bone abnormalities of thanatophoric dwarfism.

    Science.gov (United States)

    Miller, Elka; Blaser, Susan; Shannon, Patrick; Widjaja, Elysa

    2009-01-01

    The purpose of this article is to present the imaging findings of skeletal and brain abnormalities in thanatophoric dwarfism, a lethal form of dysplastic dwarfism. The bony abnormalities associated with thanatophoric dwarfism include marked shortening of the tubular bones and ribs. Abnormal temporal lobe development is a common associated feature and can be visualized as early as the second trimester. It is important to assess the brains of fetuses with suspected thanatophoric dwarfism because the presence of associated brain malformations can assist in the antenatal diagnosis of thanatophoric dwarfism.

  9. Shedding light on canine pituitary dwarfism

    OpenAIRE

    Voorbij, A.M.W.Y.

    2015-01-01

    Pituitary dwarfism, associated with growth hormone deficiency, is an autosomal, recessively inherited disorder in shepherd dogs. Due to the serious nature of pituitary dwarfism and lack of efficient treatment, it is preferable to prevent dwarfs from being born by applying a correct breeding policy. However, because pituitary dwarfism is a recessively inherited disorder and carriers do not differ phenotypically from non-carriers, genetic testing is required to prevent mating of 2 carriers. But...

  10. Dwarfism and gigantism in historical picture postcards.

    OpenAIRE

    Enderle, A

    1998-01-01

    A collection of 893 historical picture postcards from 1900 to 1935, depicting dwarfs and giants, was analysed from medical and psychosocial viewpoints. In conditions such as 'bird headed dwarfism', achondroplasia, cretinism, so-called Aztecs or pinheads, Grebe chondrodysplasia, and acromegalic gigantism, the disorder could be diagnosed easily. In hypopituitary dwarfism, exact diagnosis was more difficult because of heterogeneity. The most common conditions depicted were pituitary dwarfism and...

  11. The primordial nucleosynthesis

    International Nuclear Information System (INIS)

    Audouze, J.

    1984-01-01

    This review of the primordial nucleosynthesis is divided in three chapters. In the first the author attempts to determine the primordial abundances of the lightest elements which can be formed by the Big Bang nucleosynthesis. The second is a summary of the Standard Big Bang nucleosynthesis. This simple and attractive model might be found in difficulty in the case of a primordial abundance of He <= 0.24 and/or in the case of models of galactic evolution allowing infall of external matter having a primordial composition. Finally, in the third, two alternative proposals to the Standard Big Bang nucleosynthesis are summarized. (Auth.)

  12. Shedding light on canine pituitary dwarfism

    NARCIS (Netherlands)

    Voorbij, A.M.W.Y.

    2015-01-01

    Pituitary dwarfism, associated with growth hormone deficiency, is an autosomal, recessively inherited disorder in shepherd dogs. Due to the serious nature of pituitary dwarfism and lack of efficient treatment, it is preferable to prevent dwarfs from being born by applying a correct breeding policy.

  13. Minor class splicing shapes the zebrafish transcriptome during development

    DEFF Research Database (Denmark)

    Markmiller, Sebastian; Cloonan, Nicole; Lardelli, Rea M

    2014-01-01

    known as Taybi-Linder syndrome or microcephalic osteodysplastic primordial dwarfism 1, and a hereditary intestinal polyposis condition, Peutz-Jeghers syndrome. Although a key mechanism for regulating gene expression, the impact of impaired U12-type splicing on the transcriptome is unknown. Here, we...

  14. Primordial chemistry: an overview

    International Nuclear Information System (INIS)

    Signore, Monique; Puy, Denis

    1999-01-01

    In the standard Big Bang model, the light elements in the cosmos -hydrogen and helium but also deuterium and lithium- were created in the very early Universe. The main problem is to connect what we can actually observe to day with the standard Big Bang nucleosynthesis predictions essentially because of uncertainties in modeling their evolution since the Big Bang. After a brief review of the primordial nucleosynthesis -predictions and observations of the primordial abundances- we present the preliminary studies of the primordial chemistry: molecular formation and evolution in the early Universe

  15. Bilateral double level tibial lengthening in dwarfism.

    Science.gov (United States)

    Burghardt, Rolf D; Yoshino, Koichi; Kashiwagi, Naoya; Yoshino, Shigeo; Bhave, Anil; Paley, Dror; Herzenberg, John E

    2015-12-01

    Outcome assessment after double level tibial lengthening in patients with dwarfism. Fourteen patients with dwarfism were analyzed after bilateral simultaneous double level tibial lengthening. Average age was 15.1 years. Average lengthening was 13.5 cm. The two levels were lengthened by an average of 7.5 cm proximally and 6.0 cm distally. Concomitant deformities were also addressed during lengthening. External fixation treatment time averaged 8.8 months. Healing index averaged 0.7 months/cm. Bilateral tibial lengthening for dwarfism is difficult, but the results are usually quite gratifying.

  16. Neonatal death dwarfism - a new form

    Energy Technology Data Exchange (ETDEWEB)

    Colavita, N.; Kozlowski, K.

    1984-09-01

    A new type of neonatal death dwarfism is reported. Although it resembles superficially the metatropic dysplasia group of diseases it has some distinctive radiographic features which help to delineate it as a separate entity.

  17. Neonatal death dwarfism - a new form

    International Nuclear Information System (INIS)

    Colavita, N.; Kozlowski, K.; Universita Cattolica del Sacro Cuore di Milano, Rome

    1984-01-01

    A new type of neonatal death dwarfism is reported. Although it resembles superficially the metatropic dysplasia group of diseases it has some distinctive radiographic features which help to delineate it as a separate entity. (orig.)

  18. Prenatal sonographic diagnosis of diastrophic dwarfism.

    Science.gov (United States)

    Tongsong, Theera; Wanapirak, Chanane; Sirichotiyakul, Supatra; Chanprapaph, Pharuhas

    2002-02-01

    A healthy 27-year-old pregnant woman underwent sonographic examination because her uterine size was large for 20 weeks' menstrual age. Sonograms showed short fetal limbs with hitchhiker thumbs and toes, thoracic scoliosis, clubbed feet, and polyhydramnios. The ossification of all bony structures appeared normal, and there was no evidence of fractures. On the basis of these sonographic findings, we diagnosed skeletal dysplasia and short-limbed dwarfism, most likely diastrophic dwarfism. We counseled the parents, and the pregnancy was continued. At 37 weeks menstrual age, the patient vaginally delivered a male infant that weighed 2,560 g. The infant survived with respiratory support during his first few days of life. Postnatal physical and radiologic examinations confirmed the prenatal diagnosis of diastrophic dwarfism. Sonography is the modality of choice for prenatal detection of diastrophic dwarfism. Copyright 2002 John Wiley & Sons, Inc.

  19. Dyssegmental dwarfism. Report on two cases

    Energy Technology Data Exchange (ETDEWEB)

    Miething, R.; Stoever, B.; Tuengerthal, S.; Winterling, D.; Svejcar, J.

    1981-04-01

    Report on 2 cases of dyssegmental dwarfism, a rare lethal form of dwarfism. Both male newborns died from asphyxia immediately after delivery. Its features are malformations of the first visceral arch (Pierre-Robin-Syndrome), malformations of all extremities (Camptomicromelia) and severe malformations of the spine (Anisospondyly), with the vertebral changes serving as the main differential diagnostic feature. Among other things, these malformations are due to defective enchondral ossification; and the disease is presumably autosomal recessive.

  20. Before primordial inflation

    Science.gov (United States)

    Nanopoulos, D. V.; Srednicki, M.

    1983-12-01

    We show that, before the onset of primordial inflation, there is plenty of time for fields with very flat potentials and very weak couplings (such as the local supersymmetry breaking field and the axion field) to roll to the global minima of their potentials. Thus there is no energy stored in these fields today and hence no constraint (such as faxion USA.

  1. [Dwarfism due to familial panhypopituitarism].

    Science.gov (United States)

    Cos Welsh, J; Espinosa de los Monteros, A; de la Luz Ajuria, M; Morillo Almao, E

    1977-01-01

    Three sisters of 27 7/12, 13 8/12 and 9 1/12 years of age, respectively, with proportionate dwarfism, high pitched voice and lack of sexual development are described. All the patients had very low serum levels of immunoreactive growth hormone (GH), as well as of LH and FSH. Hypoglycemia induced by insulin and arginine infusion failed to increase GH levels, and the administration of the hypothalamic LH-FSH releasing hormone (LH-RH) did not elicit any response in the secretion of gonadotropins. The oldest sister developed hypothyroidism in recent years, since the I131 thyroid uptake was normal ten years before; her serum TSH was low and did not change with TRH stimulation. In addition, a low pituitary ACTH reserve was demonstrated by the hypoglycemia and metirapone tests. Case 2 showed partial pituitary TSH and ACTH reserve, whereas the youngest child only had low TSH pituitary reserve. These patients had all the clinical and laboratory characteristics of familial panhypopituitarism, with normal sella turcica. Genetic transmission in this cases is consistent with the autosomal recessive form, which is the most frequent type of inheritance of this entity. Consanguinity can not be ruled out. The results of the hypothalamic-pituitary functional tests apparently suggest that the primary defect could be located at the pituitary level. It is also possible that the pathological process may have a progressive evolution.

  2. Dwarfism and gigantism in historical picture postcards.

    Science.gov (United States)

    Enderle, A

    1998-01-01

    A collection of 893 historical picture postcards from 1900 to 1935, depicting dwarfs and giants, was analysed from medical and psychosocial viewpoints. In conditions such as 'bird headed dwarfism', achondroplasia, cretinism, so-called Aztecs or pinheads, Grebe chondrodysplasia, and acromegalic gigantism, the disorder could be diagnosed easily. In hypopituitary dwarfism, exact diagnosis was more difficult because of heterogeneity. The most common conditions depicted were pituitary dwarfism and achondroplasia. Most of those with gigantism had pituitary gigantism and acromegaly. Brothers and sisters or parents and their children provided evidence of mendelian inheritance of some of these disorders. The cards suggest that being put on show provided, at least in some cases, social benefits. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 PMID:9764085

  3. Photinos and primordial nucleosynthesis

    International Nuclear Information System (INIS)

    Salati, P.

    1986-07-01

    Photinos are among the most interesting particles predicted by supersymmetric theories. If they exist they should influence in many ways the results of the primordial nucleosynthesis i.e. the predicted primordial abundances of D, 3 He, 4 He (and 7 Li). If photinos are stable, cosmological constraints restrict their possible mass to be either very light (M∼ γ γ > a few GeV), depending on the slepton and squark masses. In the case where photinos are unstable, they could create high energy photons able to photodisintegrate the light elements. The comparison between the predicted and the observed abundances allows to restrict significantly the photino mass-lifetime range: roughly speaking photinos of relatively high mass (M∼ γ > 150 MeV) and low time scale ( 3 sec) are compatible with these abundances

  4. The Primordial Inflation Explorer

    Science.gov (United States)

    Kogut, Alan J.

    2012-01-01

    The Primordial Inflation Explorer is an Explorer-class mission to measure the gravity-wave signature of primordial inflation through its distinctive imprint on the linear polarization of the cosmic microwave background. PIXIE uses an innovative optical design to achieve background-limited sensitivity in 400 spectral channels spanning 2.5 decades in frequency from 30 GHz to 6 THz (1 cm to 50 micron wavelength). The principal science goal is the detection and characterization of linear polarization from an inflationary epoch in the early universe, with tensor-to-scalar ratio r < 10(exp -3) at 5 standard deviations. The rich PIXIE data set will also constrain physical processes ranging from Big Bang cosmology to the nature of the first stars to physical conditions within the interstellar medium of the Galaxy. I describe the PIXIE instrument and mission architecture needed to detect the inflationary signature using only 4 semiconductor bolometers.

  5. Corrections to primordial nucleosynthesis

    International Nuclear Information System (INIS)

    Dicus, D.A.; Kolb, E.W.; Gleeson, A.M.; Sudarshan, E.C.G.; Teplitz, V.L.; Turner, M.S.

    1982-01-01

    The changes in primordial nucleosynthesis resulting from small corrections to rates for weak processes that connect neutrons and protons are discussed. The weak rates are corrected by improved treatment of Coulomb and radiative corrections, and by inclusion of plasma effects. The calculations lead to a systematic decrease in the predicted 4 He abundance of about ΔY = 0.0025. The relative changes in other primoridal abundances are also 1 to 2%

  6. Prenatal diagnosis of dwarfism by ultrasound screening.

    OpenAIRE

    Weldner, B M; Persson, P H; Ivarsson, S A

    1985-01-01

    In a general, ultrasound screening programme, 12 453 women were examined at 16 and 32 weeks of pregnancy. The screening detected all limb deformities in the population during the study period. The seeming prevalence of dwarfism in the population was 750 per million.

  7. Prenatal diagnosis of dwarfism by ultrasound screening.

    Science.gov (United States)

    Weldner, B M; Persson, P H; Ivarsson, S A

    1985-01-01

    In a general, ultrasound screening programme, 12 453 women were examined at 16 and 32 weeks of pregnancy. The screening detected all limb deformities in the population during the study period. The seeming prevalence of dwarfism in the population was 750 per million. PMID:3907507

  8. Spondyloepiphyseal dysplasia congenita. A cause of lethal neonatal dwarfism

    Energy Technology Data Exchange (ETDEWEB)

    Macpherson, R.I.; Wood, B.P.

    1980-07-01

    Spondyloepiphyseal dysplasia congenita is a form of primarily short trunk dwarfism, that is manifest at birth but generally has not been regarded as a cause of lethal neonatal dwarfism. Seven neonates with severe dwarfism are presented. The first survived the newborn period, but the other six were early neonatal deaths. All displayed the clinical and radiologic features of spondyloepiphyseal dysplasia congenita. The striking similarities between spondyloepiphyseal dysplasia congenita and achondrogenesis type 2 are discussed.

  9. Lethal neonatal short-limbed dwarfism

    International Nuclear Information System (INIS)

    Kim, Ok Hwa; Yim, Chung Ik; Bahk, Yong Whee

    1986-01-01

    We have detailed our experiences on 6 cases of neonatal lethal short-limbed dwarfism and reviewed the articles. They include, achondrogenesis, thanatophoric dysplasia, asphyxiating thoracic dysplasia, osteogenesis imperfect a congenita, and hypophosphatasia lethals. Five babies were born alive but died soon after birth and one was a stillbirth. The main cause of failure to thrive was respiratory insufficiency. Each case was having quite characteristic radiologic findings, even if the general appearances were similar to the achondroplasts clinically. Precise diagnosis is very important for genetic counselling of the parents and alarm to them the possibility of bone dysplasias to the next offsprings. For this purpose, the radiologists play major role for the correct diagnosis. We stress that when the baby is born with short-limbed dwarfism, whole body radiogram should be taken including lateral view and postmortem radiogram is also very precious.

  10. Lethal neonatal short-limbed dwarfism

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Ok Hwa; Yim, Chung Ik; Bahk, Yong Whee [Catholic Medical College, Seoul (Korea, Republic of)

    1986-02-15

    We have detailed our experiences on 6 cases of neonatal lethal short-limbed dwarfism and reviewed the articles. They include, achondrogenesis, thanatophoric dysplasia, asphyxiating thoracic dysplasia, osteogenesis imperfect a congenita, and hypophosphatasia lethals. Five babies were born alive but died soon after birth and one was a stillbirth. The main cause of failure to thrive was respiratory insufficiency. Each case was having quite characteristic radiologic findings, even if the general appearances were similar to the achondroplasts clinically. Precise diagnosis is very important for genetic counselling of the parents and alarm to them the possibility of bone dysplasias to the next offsprings. For this purpose, the radiologists play major role for the correct diagnosis. We stress that when the baby is born with short-limbed dwarfism, whole body radiogram should be taken including lateral view and postmortem radiogram is also very precious.

  11. Extreme insular dwarfism evolved in a mammoth.

    Science.gov (United States)

    Herridge, Victoria L; Lister, Adrian M

    2012-08-22

    The insular dwarfism seen in Pleistocene elephants has come to epitomize the island rule; yet our understanding of this phenomenon is hampered by poor taxonomy. For Mediterranean dwarf elephants, where the most extreme cases of insular dwarfism are observed, a key systematic question remains unresolved: are all taxa phyletic dwarfs of a single mainland species Palaeoloxodon antiquus (straight-tusked elephant), or are some referable to Mammuthus (mammoths)? Ancient DNA and geochronological evidence have been used to support a Mammuthus origin for the Cretan 'Palaeoloxodon' creticus, but these studies have been shown to be flawed. On the basis of existing collections and recent field discoveries, we present new, morphological evidence for the taxonomic status of 'P'. creticus, and show that it is indeed a mammoth, most probably derived from Early Pleistocene Mammuthus meridionalis or possibly Late Pliocene Mammuthus rumanus. We also show that Mammuthus creticus is smaller than other known insular dwarf mammoths, and is similar in size to the smallest dwarf Palaeoloxodon species from Sicily and Malta, making it the smallest mammoth species known to have existed. These findings indicate that extreme insular dwarfism has evolved to a similar degree independently in two elephant lineages.

  12. Accretion, primordial black holes and standard cosmology

    Indian Academy of Sciences (India)

    Primordial black holes evaporate due to Hawking radiation. We find that the evaporation times of primordial black holes increase when accretion of radiation is included. Thus, depending on accretion efficiency, more primordial black holes are existing today, which strengthens the conjecture that the primordial black holes ...

  13. [Psychosocial dwarfism, a reality: Case report].

    Science.gov (United States)

    Mariani, A; Chalies, S; Jeandel, C; Rodière, M

    2010-05-01

    Psychosocial dwarfism is a rare condition, but can still be observed. We report the case of a 5-year-old girl seen in our clinic for severe growth retardation that had been evolving for several years. A growth arrest was observed beginning at the age of 3.5years. Initial clinical examination and biological investigations were negative. As the child was hospitalized, serious disturbances in mother-child relations were observed. A significant modification of the child's behavior was observed when the mother was absent. Following questioning, the mother admitted social problems; the pregnancy had not been desired and this contributed to a lack of attachment between the mother and the child. Psychosocial dwarfism seems to originate from serious disturbances in the mother-child relationship. It seems to be caused by a partial growth hormone deficiency and a frequent context of malnutrition due to food behavior disorders. Family problems need to be taken into account and intensive medical and psychological follow-up is required. Prognosis is good if an early diagnosis is made and followed with a close and prolonged follow-up. Copyright 2010 Elsevier Masson SAS. All rights reserved.

  14. A new type of lethal short-limbed dwarfism

    International Nuclear Information System (INIS)

    Nairn, E.R.; Chapman, S.

    1989-01-01

    Details are presented of a most unusual osteo-chondrodysplasia which presents with lethal neonatal short-limbed dwarfism, defective ossification and nodular calcification with cartilage. The features resemble one case previously described in the literature. (orig.)

  15. New type of lethal short-limbed dwarfism

    Energy Technology Data Exchange (ETDEWEB)

    Nairn, E.R.; Chapman, S.

    1989-05-01

    Details are presented of a most unusual osteo-chondrodysplasia which presents with lethal neonatal short-limbed dwarfism, defective ossification and nodular calcification with cartilage. The features resemble one case previously described in the literature.

  16. Laron's Dwarfism: Studies on the Nature of the Defect

    Science.gov (United States)

    Elders, M. Joycelyn; And Others

    1973-01-01

    Laron's syndrome, characterized by severe dwarfism, high circulating levels of immunoreactive growth hormone, and failure to generate somatomedin after administration of human growth hormone, was studied in a boy 7 1/2 years of age. (MC)

  17. Inheritance of proportionate dwarfism in Angus cattle.

    Science.gov (United States)

    Latter, M R; Latter, B D H; Wilkins, J F; Windsor, P A

    2006-04-01

    To determine the mode of inheritance of congenital proportionate dwarfism in Angus and Angus crossbred cattle, initially detected in two commercial beef herds in northern New South Wales. Matings of normal carrier sires to unrelated cows of diverse breeds, and of one carrier sire to his unaffected daughters. An unrelated Piedmontese bull was also mated to unaffected daughters of the carrier sires. Two carrier Angus bulls and nine unaffected daughters, all of whom were completely indistinguishable from normal animals, were purchased for controlled breeding studies under known nutritional and disease conditions. Affected and carrier individuals were examined for the presence of obvious chromosomal abnormalities. Angus dwarfism has been successfully reproduced under controlled experimental conditions over successive years using unrelated dams and is undoubtedly heritable. The high frequency of occurrence of affected individuals (23/61 = 0.38 +/- .06) among the progeny of matings of the Angus sires to unrelated females of diverse breeding is not compatible with recessive inheritance, because of the negligible frequency of proportionate dwarfism in the breeds of the dams. Both paternal and maternal transmission of the defect was demonstrated, so that imprinting in the strict sense of a gene that is only expressed when received from the male parent appears not to be involved. Tested individuals showed no evidence of gross chromosomal abnormality. Dominant autosomal inheritance with incomplete penetrance was indicated by the lack of expression of the defective gene in the two Angus sires and in three unaffected daughters who produced dwarf calves from matings to the Piedmontese bull. The mode of inheritance is that of a single autosomal dominant gene with a penetrance coefficient of 0.75 +/- 0.12, estimated from the observed incidence of 23/61 affected offspring of the two carrier Angus bulls mated to unrelated dams. Simple genetic models involving either (i) an unstable

  18. Torrance type of lethal neonatal short-limbed platyspondylic dwarfism

    International Nuclear Information System (INIS)

    Kaibara, N.; Yokoyama, K.; Nakano, H.

    1983-01-01

    A rare case of lethal neonatal short-limbed platyspondylic dwarfism is described. Roentgenographic features of this case, distinctly different from those of the classical thanatophoric dysplasia, are indistinguishable from the other three types of short-limbed platyspondylic dwarfism. Histologic features of the cartilage in this case are not very different from those of the Torrance type, but the presence of focal disruption of column formation in this case suggests a wider spectrum for this entity. (orig.)

  19. Torrance type of lethal neonatal short-limbed platyspondylic dwarfism

    Energy Technology Data Exchange (ETDEWEB)

    Kaibara, N.; Yokoyama, K.; Nakano, H.

    1983-06-01

    A rare case of lethal neonatal short-limbed platyspondylic dwarfism is described. Roentgenographic features of this case, distinctly different from those of the classical thanatophoric dysplasia, are indistinguishable from the other three types of short-limbed platyspondylic dwarfism. Histologic features of the cartilage in this case are not very different from those of the Torrance type, but the presence of focal disruption of column formation in this case suggests a wider spectrum for this entity.

  20. Searching for Primordial Antimatter

    Science.gov (United States)

    2008-10-01

    Scientists are on the hunt for evidence of antimatter - matter's arch nemesis - leftover from the very early Universe. New results using data from NASA's Chandra X-ray Observatory and Compton Gamma Ray Observatory suggest the search may have just become even more difficult. Antimatter is made up of elementary particles, each of which has the same mass as their corresponding matter counterparts --protons, neutrons and electrons -- but the opposite charges and magnetic properties. When matter and antimatter particles collide, they annihilate each other and produce energy according to Einstein's famous equation, E=mc2. According to the Big Bang model, the Universe was awash in particles of both matter and antimatter shortly after the Big Bang. Most of this material annihilated, but because there was slightly more matter than antimatter - less than one part per billion - only matter was left behind, at least in the local Universe. Trace amounts of antimatter are believed to be produced by powerful phenomena such as relativistic jets powered by black holes and pulsars, but no evidence has yet been found for antimatter remaining from the infant Universe. How could any primordial antimatter have survived? Just after the Big Bang there was believed to be an extraordinary period, called inflation, when the Universe expanded exponentially in just a fraction of a second. "If clumps of matter and antimatter existed next to each other before inflation, they may now be separated by more than the scale of the observable Universe, so we would never see them meet," said Gary Steigman of The Ohio State University, who conducted the study. "But, they might be separated on smaller scales, such as those of superclusters or clusters, which is a much more interesting possibility." X-rayChandra X-ray Image In that case, collisions between two galaxy clusters, the largest gravitationally-bound structures in the Universe, might show evidence for antimatter. X-ray emission shows how much hot

  1. Current insights into the molecular genetic basis of dwarfism in livestock.

    Science.gov (United States)

    Boegheim, Iris J M; Leegwater, Peter A J; van Lith, Hein A; Back, Willem

    2017-06-01

    Impairment of bone growth at a young age leads to dwarfism in adulthood. Dwarfism can be categorised as either proportionate, an overall size reduction without changes in body proportions, or disproportionate, a size reduction in one or more limbs, with changes in body proportions. Many forms of dwarfism are inherited and result from structural disruptions or disrupted signalling pathways. Hormonal disruptions are evident in Brooksville miniature Brahman cattle and Z-linked dwarfism in chickens, caused by mutations in GH1 and GHR. Furthermore, mutations in IHH are the underlying cause of creeper achondroplasia in chickens. Belgian blue cattle display proportionate dwarfism caused by a mutation in RNF11, while American Angus cattle dwarfism is caused by a mutation in PRKG2. Mutations in EVC2 are associated with dwarfism in Japanese brown cattle and Tyrolean grey cattle. Fleckvieh dwarfism is caused by mutations in the GON4L gene. Mutations in COL10A1 and COL2A1 cause dwarfism in pigs and Holstein cattle, both associated with structural disruptions, while several mutations in ACAN are associated with bulldog-type dwarfism in Dexter cattle and dwarfism in American miniature horses. In other equine breeds, such as Shetland ponies and Friesian horses, dwarfism is caused by mutations in SHOX and B4GALT7. In Texel sheep, chondrodysplasia is associated with a deletion in SLC13A1. This review discusses genes known to be involved in these and other forms of dwarfism in livestock. Copyright © 2017 Elsevier Ltd. All rights reserved.

  2. Insights Into Severe Form of Dwarfism Could Lead to New Treatment Strategies

    Science.gov (United States)

    ... Spotlight on Research Insights Into Severe Form of Dwarfism Could Lead to New Treatment Strategies By Colleen ... a mutation that causes a severe form of dwarfism have led to a better understanding of the ...

  3. Mesomelic dwarfism of the Langer type as a homozygous form of dyschondrosteosis

    Energy Technology Data Exchange (ETDEWEB)

    Kemperdick, H.; Majewski, F.

    1982-05-01

    A family is described containing a daughter suffering from mesomelic dwarfism of the Langer type and both parents showing a dyschondrosteosis. This family supports the thesis that mesomelic dwarfism of the Langer type represents the homozygous form of dyschondrosteosis.

  4. Late baryogenesis faces primordial nucleosynthesis

    International Nuclear Information System (INIS)

    Delbourgo-Salvador, P.; Audouze, J.; Salati, P.

    1991-11-01

    Since the sphalleron mechanism present in the standard theory of electro-weak interactions violates B+L, models have been suggested where baryogenesis takes place at late epochs and is concomitant with primordial nucleosynthesis. The possibility for the baryon asymmetry to be generated was numerically investigated at the same time as the light elements are cooked. The primordial yields of D, 3 He, 4 He and 7 Li were shown to exceed the upper limits inferred from observation, unless baryogenesis is anterior to the freeze-out of the weak interactions. This implies strong constraints on scenarios where the baryon asymmetry originates from the late decay of massive gravitinos. (author) 18 refs., 6 figs

  5. Primordial Kaluza-Klein inflation

    International Nuclear Information System (INIS)

    Gonzalez-Diaz, P.F.

    1986-01-01

    In a higher-dimensional version of the gravitational action with higher-derivative terms and logarithmic dependence on the curvature scalar, in addition to the four-dimensional gravitational action integral, the non-gravitational Coleman-Weinberg effective potential that governs primordial inflation is obtained. Also, it is obtained that the length scale for the internal space decreases monotonously during the inflationary era, at a similar rate as the three spacelike dimensions grow. (orig.)

  6. Primordial inflation and the monopole problem

    International Nuclear Information System (INIS)

    Olive, K.A.; Seckel, D.

    1984-01-01

    This chapter discusses the cosmological abundance of magnetic monopoles in locally supersymmetry grand unified theories (GUTs) and primordial inflation. It is shown how the magnetic monopole problem can be solved in variants of broken N=1 supergravity primordial inflation. The monopole problem and its solution in inflationary models is reviewed. It is demonstrated that the monopole problem can be solved by coupling primordial inflation to supersymmetric SU(5) breaking

  7. Neutron oscillations and the primordial magnetic field

    International Nuclear Information System (INIS)

    Sarkar, S.

    1988-01-01

    It has been claimed that a primordial magnetic field must exist in order to suppress possible oscillations of neutrons into antineutrons which would otherwise affect the cosmological synthesis of helium. We demonstrate that such oscillations, even if they do occur, have a negligible effect on primordial nucleosynthesis, thus refuting the above claim. Hence the possible existence of a primordial magnetic field, relevant to current speculations concerning superconducting 'cosmic strings', remains an open question. (author)

  8. QCD pairing in primordial nuggets

    Science.gov (United States)

    Lugones, G.; Horvath, J. E.

    2003-08-01

    We analyze the problem of boiling and surface evaporation of quark nuggets in the cosmological quark-hadron transition. Recently, it has been shown that QCD pairing modifies the stability properties of strange quark matter. More specifically, strange quark matter in a color-flavor locked state was found to be absolutely stable for a much wider range of the parameters than ordinary unpaired strange quark matter (G. Lugones and J. E. Horvath, Phys. Rev. D, 66, 074017 (2002)). Assuming that primordial quark nuggets are actually formed we analyze the consequences of pairing on the rates of boiling and surface evaporation in order to determine whether they could have survived.

  9. Resonant primordial gravitational waves amplification

    Directory of Open Access Journals (Sweden)

    Chunshan Lin

    2016-01-01

    Full Text Available We propose a mechanism to evade the Lyth bound in models of inflation. We minimally extend the conventional single-field inflation model in general relativity (GR to a theory with non-vanishing graviton mass in the very early universe. The modification primarily affects the tensor perturbation, while the scalar and vector perturbations are the same as the ones in GR with a single scalar field at least at the level of linear perturbation theory. During the reheating stage, the graviton mass oscillates coherently and leads to resonant amplification of the primordial tensor perturbation. After reheating the graviton mass vanishes and we recover GR.

  10. Primordial gravitational waves and cosmology.

    Science.gov (United States)

    Krauss, Lawrence M; Dodelson, Scott; Meyer, Stephan

    2010-05-21

    The observation of primordial gravitational waves could provide a new and unique window on the earliest moments in the history of the universe and on possible new physics at energies many orders of magnitude beyond those accessible at particle accelerators. Such waves might be detectable soon, in current or planned satellite experiments that will probe for characteristic imprints in the polarization of the cosmic microwave background, or later with direct space-based interferometers. A positive detection could provide definitive evidence for inflation in the early universe and would constrain new physics from the grand unification scale to the Planck scale.

  11. Ectopic Neurohypophysis in Patient with Pituitary Dwarfism: A Case Report

    Directory of Open Access Journals (Sweden)

    İlhan Kılınç

    2008-09-01

    Full Text Available 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 ofhypophysis and stalk of hypophysis was not observed. Ectopicneurohypophysis may be present with pituitary dwarfism. Cranial MRI maybe useful to investigate related pathologies in such cases.

  12. Cosmology with primordial black holes

    International Nuclear Information System (INIS)

    Lindley, D.

    1981-09-01

    Cosmologies containing a substantial amount of matter in the form of evaporating primordial black holes are investigated. A review of constraints on the numbers of such black holes, including an analysis of a new limit found by looking at the destruction of deuterium by high energy photons, shows that there must be a negligible population of small black holes from the era of cosmological nucleosynthesis onwards, but that there are no strong constraints before this time. The major part of the work is based on the construction of detailed, self-consistent cosmological models in which black holes are continually forming and evaporating The interest in these models centres on the question of baryon generation, which occurs via the asymmetric decay of a new type of particle which appears as a consequence of the recently developed Grand Unified Theories of elementary particles. Unfortunately, there is so much uncertainty in the models that firm conclusions are difficult to reach; however, it seems feasible in principle that primordial black holes could be responsible for a significant part of the present matter density of the Universe. (author)

  13. The Primordial Inflation Explorer (PIXIE)

    Science.gov (United States)

    Kogut, Alan; Chluba, Jens; Fixsen, Dale J.; Meyer, Stephan; Spergel, David

    2016-01-01

    The Primordial Inflation Explorer is an Explorer-class mission to open new windows on the early universe through measurements of the polarization and absolute frequency spectrum of the cosmic microwave background. PIXIE will measure the gravitational-wave signature of primordial inflation through its distinctive imprint in linear polarization, and characterize the thermal history of the universe through precision measurements of distortions in the blackbody spectrum. PIXIE uses an innovative optical design to achieve background-limited sensitivity in 400 spectral channels spanning over 7 octaves in frequency from 30 GHz to 6 THz (1 cm to 50 micron wavelength). Multi-moded non-imaging optics feed a polarizing Fourier Transform Spectrometer to produce a set of interference fringes, proportional to the difference spectrum between orthogonal linear polarizations from the two input beams. Multiple levels of symmetry and signal modulation combine to reduce systematic errors to negligible levels. PIXIE will map the full sky in Stokes I, Q, and U parameters with angular resolution 2.6 degrees and sensitivity 70 nK per 1degree square pixel. The principal science goal is the detection and characterization of linear polarization from an inflationary epoch in the early universe, with tensor-to-scalar ratio r inflation to the nature of the first stars and the physical conditions within the interstellar medium of the Galaxy. We describe the PIXIE instrument and mission architecture required to measure the CMB to the limits imposed by astrophysical foregrounds.

  14. Fluctuations in models with primordial inflation

    International Nuclear Information System (INIS)

    Kahn, R.; Brandenberger, R.

    1984-01-01

    The recently proposed general framework for calculating the growth of primordial energy density fluctuations in cosmological models is applied to two models of phenomenological interest in which the cosmological evolution differs crucially from that in new inflationary universe models. Both in a model of primordial supersymmetric inflation and in Linde's proposal of chaotic inflation we verify the conjectured results. (orig.)

  15. The 3-M syndrome. A heritable low birthweight dwarfism.

    Science.gov (United States)

    Van Goethem, H; Malvaux, P

    1987-10-01

    Two male siblings and one girl with the 3-M syndrome are reported. The main clinical features include low birthweight, proportionate dwarfism, hatched-shaped cranio-facial configuration, abnormalities of mouth and teeth, short broad neck with prominent trapezius, pectus deformity, transverse grooves of anterior chest, and winged scapulae.

  16. Primordial nucleosynthesis: Beyond the standard model

    International Nuclear Information System (INIS)

    Malaney, R.A.

    1991-01-01

    Non-standard primordial nucleosynthesis merits continued study for several reasons. First and foremost are the important implications determined from primordial nucleosynthesis regarding the composition of the matter in the universe. Second, the production and the subsequent observation of the primordial isotopes is the most direct experimental link with the early (t approx-lt 1 sec) universe. Third, studies of primordial nucleosynthesis allow for important, and otherwise unattainable, constraints on many aspects of particle physics. Finally, there is tentative evidence which suggests that the Standard Big Bang (SBB) model is incorrect in that it cannot reproduce the inferred primordial abundances for a single value of the baryon-to-photon ratio. Reviewed here are some aspects of non-standard primordial nucleosynthesis which mostly overlap with the authors own personal interest. He begins with a short discussion of the SBB nucleosynthesis theory, high-lighting some recent related developments. Next he discusses how recent observations of helium and lithium abundances may indicate looming problems for the SBB model. He then discusses how the QCD phase transition, neutrinos, and cosmic strings can influence primordial nucleosynthesis. He concludes with a short discussion of the multitude of other non-standard nucleosynthesis models found in the literature, and make some comments on possible progress in the future. 58 refs., 7 figs., 2 tabs

  17. Primordial black holes from fifth forces

    Science.gov (United States)

    Amendola, Luca; Rubio, Javier; Wetterich, Christof

    2018-04-01

    Primordial black holes can be produced by a long-range attractive fifth force stronger than gravity, mediated by a light scalar field interacting with nonrelativistic "heavy" particles. As soon as the energy fraction of heavy particles reaches a threshold, the fluctuations rapidly become nonlinear. The overdensities collapse into black holes or similar screened objects, without the need for any particular feature in the spectrum of primordial density fluctuations generated during inflation. We discuss whether such primordial black holes can constitute the total dark matter component in the Universe.

  18. The Primordial Inflation Explorer (PIXIE)

    Science.gov (United States)

    Kogut, Alan; Chluba, Jens; Fixsen, Dale J.; Meyer, Stephan; Spergel, David

    2016-07-01

    The Primordial Inflation Explorer is an Explorer-class mission to open new windows on the early universe through measurements of the polarization and absolute frequency spectrum of the cosmic microwave background. PIXIE will measure the gravitational-wave signature of primordial inflation through its distinctive imprint in linear polarization, and characterize the thermal history of the universe through precision measurements of distortions in the blackbody spectrum. PIXIE uses an innovative optical design to achieve background-limited sensitivity in 400 spectral channels spanning over 7 octaves in frequency from 30 GHz to 6 THz (1 cm to 50 micron wavelength). Multi-moded non-imaging optics feed a polarizing Fourier Transform Spectrometer to produce a set of interference fringes, proportional to the difference spectrum between orthogonal linear polarizations from the two input beams. Multiple levels of symmetry and signal modulation combine to reduce systematic errors to negligible levels. PIXIE will map the full sky in Stokes I, Q, and U parameters with angular resolution 2.6° and sensitivity 70 nK per 1° square pixel. The principal science goal is the detection and characterization of linear polarization from an inflationary epoch in the early universe, with tensor-to-scalar ratio r complements anticipated ground-based polarization measurements such as CMB- S4, providing a cosmic-variance-limited determination of the large-scale E-mode signal to measure the optical depth, constrain models of reionization, and provide a firm detection of the neutrino mass (the last unknown parameter in the Standard Model of particle physics). In addition, PIXIE will measure the absolute frequency spectrum to characterize deviations from a blackbody with sensitivity 3 orders of magnitude beyond the seminal COBE/FIRAS limits. The sky cannot be black at this level; the expected results will constrain physical processes ranging from inflation to the nature of the first stars and the

  19. Running of featureful primordial power spectra

    Science.gov (United States)

    Gariazzo, Stefano; Mena, Olga; Miralles, Victor; Ramírez, Héctor; Boubekeur, Lotfi

    2017-06-01

    Current measurements of the temperature and polarization anisotropy power spectra of the cosmic microwave background (CMB) seem to indicate that the naive expectation for the slow-roll hierarchy within the most simple inflationary paradigm may not be respected in nature. We show that a primordial power spectrum with localized features could in principle give rise to the observed slow-roll anarchy when fitted to a featureless power spectrum. From a model comparison perspective, and assuming that nature has chosen a featureless primordial power spectrum, we find that, while with mock Planck data there is only weak evidence against a model with localized features, upcoming CMB missions may provide compelling evidence against such a nonstandard primordial power spectrum. This evidence could be reinforced if a featureless primordial power spectrum is independently confirmed from bispectrum and/or galaxy clustering measurements.

  20. Primordial gravitational waves, BICEP2 and beyond

    Indian Academy of Sciences (India)

    2016-01-07

    Jan 7, 2016 ... Observations of the imprints of primordial gravitational waves on the ... the cosmic microwave background can provide us with unambiguous clues to the ... by the stress–energy tensor) can be classified, for instance, based on ...

  1. Case report: Anesthesia management for emergency cesarean section in a patient with dwarfism.

    Science.gov (United States)

    Li, Xiaoxi; Duan, Hongjun; Zuo, Mingzhang

    2015-04-28

    Dwarfism is characterized by short stature. Pregnancy in women with dwarfism is uncommon and cesarean section is generally indicated for delivery. Patients with dwarfism are high-risk population for both general and regional anesthesia, let alone in an emergency surgery. In this case report we present a 27-year-old Chinese puerpera with dwarfism who underwent emergency cesarean section under combined spinal and epidural anesthesia. It is an original case report, which provides instructive significance for anesthesia management especially combined spinal and epidural anesthesia in this rare condition. There was only one former article that reported a puerpera who underwent combined spinal and epidural anesthesia for a selective cesarean section.

  2. Neonatal lethal dwarfism with distinct skeletal malformations - a separate entity?

    Energy Technology Data Exchange (ETDEWEB)

    Rosendahl, K.; Maurseth, K.; Olsen, Oe.E. [Dept. of Paediatric Radiology, Haukeland University Hospital, Bergen (Norway); Halvorsen, O.J. [Dept. of Pathology, Haukeland University Hospital, Bergen (Norway); Gjelland, K. [Dept. of Gynaecology, Haukeland University Hospital, Bergen (Norway); Engebretsen, L. [Dept. of Genetics, Haukeland University Hospital, Bergen (Norway)

    2001-09-01

    We describe a case of neonatal lethal dwarfism characterised by short trunk, short, stick-like tubular bones, deficient ossification of the axial skeleton and broad, sclerotic horizontal ribs. Two similar cases have previously been reported as examples of the Neu-Laxova syndrome. However, the radiological findings of the Neu-Laxova syndrome, as reported in 16 out of 40 documented cases, show a heterogeneous pattern of minor features, which differ distinctively from those found in the previous two cases and by us. A literature research did not reveal similar cases, and we therefore suggest that our case, together with the two previous cases, may represent a new distinctive form of neonatal lethal dwarfism. (orig.)

  3. Neonatal lethal dwarfism with distinct skeletal malformations - a separate entity?

    International Nuclear Information System (INIS)

    Rosendahl, K.; Maurseth, K.; Olsen, Oe.E.; Halvorsen, O.J.; Gjelland, K.; Engebretsen, L.

    2001-01-01

    We describe a case of neonatal lethal dwarfism characterised by short trunk, short, stick-like tubular bones, deficient ossification of the axial skeleton and broad, sclerotic horizontal ribs. Two similar cases have previously been reported as examples of the Neu-Laxova syndrome. However, the radiological findings of the Neu-Laxova syndrome, as reported in 16 out of 40 documented cases, show a heterogeneous pattern of minor features, which differ distinctively from those found in the previous two cases and by us. A literature research did not reveal similar cases, and we therefore suggest that our case, together with the two previous cases, may represent a new distinctive form of neonatal lethal dwarfism. (orig.)

  4. 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...

  5. Epidural anaesthesia for caesarean section in pituitary dwarfism.

    Science.gov (United States)

    Li, Hongbo; Li, Ruihua; Lang, Bao

    2017-04-01

    We describe the anaesthetic management for caesarean section in a 32-year-old patient with pituitary dwarfism. In addition to supportive treatment, we offered a postoperative epidural analgesia pump. The patient recovered well without any complications. Copyright © 2016 Société française d'anesthésie et de réanimation (Sfar). Published by Elsevier Masson SAS. All rights reserved.

  6. Use of Zinkit in Combination Treatment of Patients with Dwarfism

    Directory of Open Access Journals (Sweden)

    O.V. Bolshova

    2013-02-01

    Full Text Available The article deals with the results of study of zinc content in children and adolescents with dwarfism due to somatotropic deficiency, and rationale for use of zinс-containing preparations (Zinkit, «Wörwag Pharma», Germany in complex treatment of such patients. The findings indicate the direct involvement of trace element zinc in the functioning of growth system of the child and of the advisability of Zinkit administration in complex treatment of patients with somatotropic deficiency.

  7. Acromesomelic dwarfism in a child with an interesting family history

    International Nuclear Information System (INIS)

    Borrelli, P.; Marini, R.; Fasanelli, S.

    1983-01-01

    Acromesomelic dwarfism is a rare skeletal disorder characterized by recessive autosomal transmission. A case is described in a boy 2 1/2 years old whose relatives (in a large number) showed a peculiar aspect of the upper extremities, and whose two grandparents were second cousins. Early diagnosis is important because it makes it possible to advise the parents with regard to the infant's prospects and the genetic implication. (orig.)

  8. Acromesomelic dwarfism in a child with an interesting family history

    Energy Technology Data Exchange (ETDEWEB)

    Borrelli, P.; Marini, R.; Fasanelli, S.

    1983-05-01

    Acromesomelic dwarfism is a rare skeletal disorder characterized by recessive autosomal transmission. A case is described in a boy 2 1/2 years old whose relatives (in a large number) showed a peculiar aspect of the upper extremities, and whose two grandparents were second cousins. Early diagnosis is important because it makes it possible to advise the parents with regard to the infant's prospects and the genetic implication.

  9. Current insights into the molecular genetic basis of dwarfism in livestock

    NARCIS (Netherlands)

    Boegheim, Iris J.M.; Leegwater, Peter A.J.; van Lith, Hein A.; Back, Willem

    2017-01-01

    Impairment of bone growth at a young age leads to dwarfism in adulthood. Dwarfism can be categorised as either proportionate, an overall size reduction without changes in body proportions, or disproportionate, a size reduction in one or more limbs, with changes in body proportions. Many forms of

  10. Current insight into the molecular genetic basis of dwarfism in livestock

    NARCIS (Netherlands)

    Boegheim, Iris J M; Leegwater, P.A.J.; van Lith, H.A.; Back, Willem

    2017-01-01

    Impairment of bone growth at a young age leads to dwarfism in adulthood. Dwarfism can be categorised as either proportionate, an overall size reduction without changes in body proportions, or disproportionate, a size reduction in one or more limbs, with changes in body proportions. Many forms of

  11. Pituitary dwarfism in Saarloos and Czechoslovakian wolfdogs is associated with a mutation in LHX3

    NARCIS (Netherlands)

    Voorbij, AMWY; Leegwater, Peter; Kooistra, Hans

    2014-01-01

    Background Pituitary dwarfism in German Shepherd Dogs is associated with autosomal recessive inheritance and a mutation in LHX3, resulting in combined pituitary hormone deficiency. Congenital dwarfism also is encountered in breeds related to German Shepherd Dogs, such as Saarloos and Czechoslovakian

  12. Mesomelic dwarfism of the Langer type as a homozygous form of dyschondrosteosis

    International Nuclear Information System (INIS)

    Kemperdick, H.; Majewski, F.; Duesseldorf Univ.

    1982-01-01

    A family is described containing a daughter suffering from mesomelic dwarfism of the Langer type and both parents showing a dyschondrosteosis. This family supports the thesis that mesomelic dwarfism of the Langer type represents the homozygous form of dyschondrosteosis. (orig.) [de

  13. Galaxy bias and primordial non-Gaussianity

    Energy Technology Data Exchange (ETDEWEB)

    Assassi, Valentin; Baumann, Daniel [DAMTP, Cambridge University, Wilberforce Road, Cambridge CB3 0WA (United Kingdom); Schmidt, Fabian, E-mail: assassi@ias.edu, E-mail: D.D.Baumann@uva.nl, E-mail: fabians@MPA-Garching.MPG.DE [Max-Planck-Institut für Astrophysik, Karl-Schwarzschild-Str. 1, 85748 Garching (Germany)

    2015-12-01

    We present a systematic study of galaxy biasing in the presence of primordial non-Gaussianity. For a large class of non-Gaussian initial conditions, we define a general bias expansion and prove that it is closed under renormalization, thereby showing that the basis of operators in the expansion is complete. We then study the effects of primordial non-Gaussianity on the statistics of galaxies. We show that the equivalence principle enforces a relation between the scale-dependent bias in the galaxy power spectrum and that in the dipolar part of the bispectrum. This provides a powerful consistency check to confirm the primordial origin of any observed scale-dependent bias. Finally, we also discuss the imprints of anisotropic non-Gaussianity as motivated by recent studies of higher-spin fields during inflation.

  14. Galaxy bias and primordial non-Gaussianity

    International Nuclear Information System (INIS)

    Assassi, Valentin; Baumann, Daniel; Schmidt, Fabian

    2015-01-01

    We present a systematic study of galaxy biasing in the presence of primordial non-Gaussianity. For a large class of non-Gaussian initial conditions, we define a general bias expansion and prove that it is closed under renormalization, thereby showing that the basis of operators in the expansion is complete. We then study the effects of primordial non-Gaussianity on the statistics of galaxies. We show that the equivalence principle enforces a relation between the scale-dependent bias in the galaxy power spectrum and that in the dipolar part of the bispectrum. This provides a powerful consistency check to confirm the primordial origin of any observed scale-dependent bias. Finally, we also discuss the imprints of anisotropic non-Gaussianity as motivated by recent studies of higher-spin fields during inflation

  15. Primordial Black Holes from First Principles (Overview)

    Science.gov (United States)

    Lam, Casey; Bloomfield, Jolyon; Moss, Zander; Russell, Megan; Face, Stephen; Guth, Alan

    2017-01-01

    Given a power spectrum from inflation, our goal is to calculate, from first principles, the number density and mass spectrum of primordial black holes that form in the early universe. Previously, these have been calculated using the Press- Schechter formalism and some demonstrably dubious rules of thumb regarding predictions of black hole collapse. Instead, we use Monte Carlo integration methods to sample field configurations from a power spectrum combined with numerical relativity simulations to obtain a more accurate picture of primordial black hole formation. We demonstrate how this can be applied for both Gaussian perturbations and the more interesting (for primordial black holes) theory of hybrid inflation. One of the tools that we employ is a variant of the BBKS formalism for computing the statistics of density peaks in the early universe. We discuss the issue of overcounting due to subpeaks that can arise from this approach (the ``cloud-in-cloud'' problem). MIT UROP Office- Paul E. Gray (1954) Endowed Fund.

  16. Primordial nucleosynthesis: A cosmological point of view

    International Nuclear Information System (INIS)

    Mathews, G. J.; Kajino, T.; Yamazaki, D.; Kusakabe, M.; Cheoun, M.-K.

    2014-01-01

    Primordial nucleosynthesis remains as one of the pillars of modern cosmology. It is the test-ing ground upon which all cosmological models must ultimately rest. It is our only probe of the universe during the first few minutes of cosmic expansion and in particular during the important radiation-dominated epoch. These lectures review the basic equations of space-time, cosmology, and big bang nucleosynthesis. We will then review the current state of observational constraints on primordial abundances along with the key nuclear reactions and their uncertainties. We summarize which nuclear measure-ments are most crucial during the big bang. We also review various cosmological models and their constraints. In particular, we summarize the constraints that big bang nucleosynthesis places upon the possible time variation of fundamental constants, along with constraints on the nature and origin of dark matter and dark energy, long-lived supersymmetric particles, gravity waves, and the primordial magnetic field

  17. Loop corrections to primordial non-Gaussianity

    Science.gov (United States)

    Boran, Sibel; Kahya, E. O.

    2018-02-01

    We discuss quantum gravitational loop effects to observable quantities such as curvature power spectrum and primordial non-Gaussianity of cosmic microwave background (CMB) radiation. We first review the previously shown case where one gets a time dependence for zeta-zeta correlator due to loop corrections. Then we investigate the effect of loop corrections to primordial non-Gaussianity of CMB. We conclude that, even with a single scalar inflaton, one might get a huge value for non-Gaussianity which would exceed the observed value by at least 30 orders of magnitude. Finally we discuss the consequences of this result for scalar driven inflationary models.

  18. Hereditary dwarfism in yellow lupin (Lupinus luteus L

    Directory of Open Access Journals (Sweden)

    Tadeusz Kazimierski

    2015-01-01

    Full Text Available A dwarf plant was found in the F4 generation of a hybrid between two yellow lupin subspecies. Genetic analysis demonstrated that the dwarf grwoth is conditioned by one recessive factor which was named nanus. This factor acts pleiotroipically since it reduces the height, changes the morphological structure and some anatomical traits and reduces fertility in the dwarf plants. It is believed that in the chromosome with translocation a gene block arose in the F4, plant. These genes acting as a compact system cause dwarfism, changes in the anatomical structure and reduce fertility.

  19. BHDD: Primordial black hole binaries code

    Science.gov (United States)

    Kavanagh, Bradley J.; Gaggero, Daniele; Bertone, Gianfranco

    2018-06-01

    BHDD (BlackHolesDarkDress) simulates primordial black hole (PBH) binaries that are clothed in dark matter (DM) halos. The software uses N-body simulations and analytical estimates to follow the evolution of PBH binaries formed in the early Universe.

  20. Primordial spectra from sudden turning trajectory

    Science.gov (United States)

    Noumi, Toshifumi; Yamaguchi, Masahide

    2013-12-01

    Effects of heavy fields on primordial spectra of curvature perturbations are discussed in inflationary models with a sudden turning trajectory. When heavy fields are excited after the sudden turn and oscillate around the bottom of the potential, the following two effects are generically induced: deformation of the inflationary background spacetime and conversion interactions between adiabatic and isocurvature perturbations, both of which can affect the primordial density perturbations. In this paper, we calculate primordial spectra in inflationary models with sudden turning potentials taking into account both of the two effects appropriately. We find that there are some non-trivial correlations between the two effects in the power spectrum and, as a consequence, the primordial scalar power spectrum has a peak around the scale exiting the horizon at the turn. Though both effects can induce parametric resonance amplifications, they are shown to be canceled out for the case with the canonical kinetic terms. The peak feature and the scale dependence of bispectra are also discussed.

  1. Primordial Prevention of Cardiometabolic Risk in Childhood.

    Science.gov (United States)

    Tanrikulu, Meryem A; Agirbasli, Mehmet; Berenson, Gerald

    2017-01-01

    Fetal life and childhood are important in the development of cardiometabolic risk and later clinical disease of atherosclerosis, hypertension and diabetes mellitus. Molecular and environmental conditions leading to cardiometabolic risk in early life bring us a challenge to develop effective prevention and intervention strategies to reduce cardiovascular (CV) risk in children and later disease. It is important that prevention strategies begin at an early age to reduce future CV morbidity and mortality. Pioneering work from longitudinal studies such as Bogalusa Heart Study (BHS), the Finnish Youth Study and other programs provide an awareness of the need for public and health services to begin primordial prevention. The impending CV risk beginning in childhood has a significant socioeconomic burden. Directions to achieve primordial prevention of cardiometabolic risk in children have been developed by prior longitudinal studies. Based on those studies that show risk factors in childhood as precursors of adult CV risk, implementation of primordial prevention will have effects at broad levels. Considering the epidemic of obesity, the high prevalence of hypertension and cardiometabolic risk, prevention early in life is valuable. Comprehensive health education, such as 'Health Ahead/Heart Smart', for all elementary school age children is one approach to begin primordial prevention and can be included in public education beginning in kindergarten along with the traditional education subject matter.

  2. Primordial braneworld black holes: significant enhancement of ...

    Indian Academy of Sciences (India)

    Abstract. The Randall-Sundrum (RS-II) braneworld cosmological model with a frac- tion of the total energy density in primordial black holes is considered. Due to their 5d geometry, these black holes undergo modified Hawking evaporation. It is shown that dur- ing the high-energy regime, accretion from the surrounding ...

  3. Primordial tensor modes from quantum corrected inflation

    DEFF Research Database (Denmark)

    Joergensen, Jakob; Sannino, Francesco; Svendsen, Ole

    2014-01-01

    . Finally we confront these theories with the Planck and BICEP2 data. We demonstrate that the discovery of primordial tensor modes by BICEP2 require the presence of sizable quantum departures from the $\\phi^4$-Inflaton model for the non-minimally coupled scenario which we parametrize and quantify. We...

  4. Anesthetic management for Cesarean delivery in parturients with a diagnosis of dwarfism.

    Science.gov (United States)

    Lange, Elizabeth M S; Toledo, Paloma; Stariha, Jillian; Nixon, Heather C

    2016-08-01

    The literature on the anesthetic management of parturients with dwarfism is sparse and limited to isolated case reports. Pregnancy complications associated with dwarfism include an increased risk of respiratory compromise, an increased risk of Cesarean delivery, and an unpredictable degree of anesthesia with neuraxial techniques. Therefore, we conducted this retrospective review to evaluate the anesthetic management of parturients with a diagnosis of dwarfism. We used a query of billing data to identify short statured women who underwent a Cesarean delivery during May 1, 2008 to May 1, 2013. We then hand searched the electronic medical record for qualifying patients with heights diagnosis of dwarfism. The extracted data included patient demographics and obstetric and anesthetic information. We identified 13 women with dwarfism who had 15 Cesarean deliveries in total. Twelve of the women had disproportionate dwarfism, and ten of the 15 Cesarean deliveries were due to cephalopelvic disproportion. Neuraxial anesthesia was attempted in 93% of deliveries. The dose chosen for initiation of neuraxial anesthesia was lower than the typical doses used in parturients of normal stature. Neuraxial anesthetic complications included difficult neuraxial placement (64%), high spinal (7%), inadequate surgical level (13%), and unrecognized intrathecal catheter (7%). The data collected suggest that females with a diagnosis of dwarfism may have difficult neuraxial placement and potentially require lower dosages of local anesthetic for both spinal and epidural anesthesia to achieve adequate surgical blockade.

  5. Growth Hormone Receptor Mutations Related to Individual Dwarfism

    Science.gov (United States)

    Li, Charles; Zhang, Xiquan

    2018-01-01

    Growth hormone (GH) promotes body growth by binding with two GH receptors (GHRs) at the cell surface. GHRs interact with Janus kinase, signal transducers, and transcription activators to stimulate metabolic effects and insulin-like growth factor (IGF) synthesis. However, process dysfunctions in the GH–GHR–IGF-1 axis cause animal dwarfism. If, during the GH process, GHR is not successfully recognized and/or bound, or GHR fails to transmit the GH signal to IGF-1, the GH dysfunction occurs. The goal of this review was to focus on the GHR mutations that lead to failures in the GH–GHR–IGF-1 signal transaction process in the dwarf phenotype. Until now, more than 90 GHR mutations relevant to human short stature (Laron syndrome and idiopathic short stature), including deletions, missense, nonsense, frameshift, and splice site mutations, and four GHR defects associated with chicken dwarfism, have been described. Among the 93 identified mutations of human GHR, 68 occur extracellularly, 13 occur in GHR introns, 10 occur intracellularly, and two occur in the transmembrane. These mutations interfere with the interaction between GH and GHRs, GHR dimerization, downstream signaling, and the expression of GHR. These mutations cause aberrant functioning in the GH-GHR-IGF-1 axis, resulting in defects in the number and diameter of muscle fibers as well as bone development. PMID:29748515

  6. Phenotypic diagnosis of dwarfism in six Friesian horses.

    Science.gov (United States)

    Back, W; van der Lugt, J J; Nikkels, P G J; van den Belt, A J M; van der Kolk, J H; Stout, T A E

    2008-05-01

    An extreme form of abnormal development, dwarfism, is common in man and some animals, but has not been officially reported in horses. Within the Friesian horse breed, congenital dwarfism has been recognised for many years, but no detailed report exists on its phenotype. The most salient feature of the dwarf syndrome is the physeal growth retardation in both limbs and ribs. Affected animals have approximately 25% shorter fore- and hindlimbs and approximately 50% reduced bodyweight. Postnatal growth is still possible in these animals, albeit at a slower rate: the head and back grow faster than the limbs and ribs leading to the characteristic disproportional growth disturbance. Thus, adult dwarfs exhibit a normal, but a relatively larger head conformation, a broader chest with narrowing at the costochondral junction, a disproportionally long back, abnormally short limbs, hyperextension of the fetlocks and narrow long-toed hooves. Furthermore, a dysplastic metaphysis of the distal metacarpus and metatarsus is radiographically evident. Microscopic analysis of the growth plates at the costochondral junction shows an irregular transition from cartilage to bone, and thickening and disturbed formation of chondrocyte columns, which is similar to findings in osteochondrodysplasia.

  7. Growth Hormone Receptor Mutations Related to Individual Dwarfism

    Directory of Open Access Journals (Sweden)

    Shudai Lin

    2018-05-01

    Full Text Available Growth hormone (GH promotes body growth by binding with two GH receptors (GHRs at the cell surface. GHRs interact with Janus kinase, signal transducers, and transcription activators to stimulate metabolic effects and insulin‐like growth factor (IGF synthesis. However, process dysfunctions in the GH–GHR–IGF-1 axis cause animal dwarfism. If, during the GH process, GHR is not successfully recognized and/or bound, or GHR fails to transmit the GH signal to IGF-1, the GH dysfunction occurs. The goal of this review was to focus on the GHR mutations that lead to failures in the GH–GHR–IGF-1 signal transaction process in the dwarf phenotype. Until now, more than 90 GHR mutations relevant to human short stature (Laron syndrome and idiopathic short stature, including deletions, missense, nonsense, frameshift, and splice site mutations, and four GHR defects associated with chicken dwarfism, have been described. Among the 93 identified mutations of human GHR, 68 occur extracellularly, 13 occur in GHR introns, 10 occur intracellularly, and two occur in the transmembrane. These mutations interfere with the interaction between GH and GHRs, GHR dimerization, downstream signaling, and the expression of GHR. These mutations cause aberrant functioning in the GH-GHR-IGF-1 axis, resulting in defects in the number and diameter of muscle fibers as well as bone development.

  8. Are cometary nuclei primordial rubble piles?

    Science.gov (United States)

    Weissman, P. R.

    1986-01-01

    Whipple's icy conglomerate model for the cometary nucleus has had considerable sucess in explaining a variety of cometary phenomena such as gas production rates and nongravitational forces. However, as discussed here, both observational evidence and theoretical considerations suggest that the cometary nucleus may not be a well-consolidated single body, but may instead be a loosely bound agglomeration of smaller fragments, weakly bonded and subject to occasional or even frequent disruptive events. The proposed model is analogous to the 'rubble pile' model suggested for the larger main-belt asteroids, although the larger cometary fragments are expected to be primordial condensations rather than collisionally derived debris as in the asteroid case. The concept of cometary nuclei as primordial rubble piles is proposed as a modification of the basic Whipple model, not as a replacement for it.

  9. Shapes and features of the primordial bispectrum

    Energy Technology Data Exchange (ETDEWEB)

    Gong, Jinn-Ouk [Asia Pacific Center for Theoretical Physics, Cheongam-ro 67, Pohang, 37673 (Korea, Republic of); Palma, Gonzalo A.; Sypsas, Spyros, E-mail: jinn-ouk.gong@apctp.org, E-mail: gpalmaquilod@ing.uchile.cl, E-mail: s.sypsas@gmail.com [Departamento de Física, FCFM, Universidad de Chile, Blanco Encalada 2008, Santiago, 837.0415 Chile (Chile)

    2017-05-01

    If time-dependent disruptions from slow-roll occur during inflation, the correlation functions of the primordial curvature perturbation should have scale-dependent features, a case which is marginally supported from the cosmic microwave background (CMB) data. We offer a new approach to analyze the appearance of such features in the primordial bispectrum that yields new consistency relations and justifies the search of oscillating patterns modulated by orthogonal and local templates. Under the assumption of sharp features, we find that the cubic couplings of the curvature perturbation can be expressed in terms of the bispectrum in two specific momentum configurations, for example local and equilateral. This allows us to derive consistency relations among different bispectrum shapes, which in principle could be tested in future CMB surveys. Furthermore, based on the form of the consistency relations, we construct new two-parameter templates for features that include all the known shapes.

  10. Inflating Kahler moduli and primordial magnetic fields

    Directory of Open Access Journals (Sweden)

    Luis Aparicio

    2017-05-01

    Full Text Available We study the production of primordial magnetic fields in inflationary models in type IIB string theory where the role of the inflaton is played by a Kahler modulus. We consider various possibilities to realise the Standard Model degrees of freedom in this setting and explicitly determine the time dependence of the inflaton coupling to the Maxwell term in the models. Using this we determine the strength and scale dependence of the magnetic fields generated during inflation. The usual “strong coupling problem” for primordial magnetogenesis manifests itself by cycle sizes approaching the string scale; this appears in a certain class of fibre inflation models where the standard model is realised by wrapping D7-branes on cycles in the geometric regime.

  11. Inflating Kahler moduli and primordial magnetic fields

    International Nuclear Information System (INIS)

    Aparicio, Luis; Maharana, Anshuman

    2017-01-01

    We study the production of primordial magnetic fields in inflationary models in type IIB string theory where the role of the inflaton is played by a Kahler modulus. We consider various possibilities to realise the Standard Model degrees of freedom in this setting and explicitly determine the time dependence of the inflaton coupling to the Maxwell term in the models. Using this we determine the strength and scale dependence of the magnetic fields generated during inflation. The usual “strong coupling problem” for primordial magnetogenesis manifests itself by cycle sizes approaching the string scale; this appears in a certain class of fibre inflation models where the standard model is realised by wrapping D7-branes on cycles in the geometric regime.

  12. Inflating Kahler moduli and primordial magnetic fields

    Energy Technology Data Exchange (ETDEWEB)

    Aparicio, Luis, E-mail: laparici@ictp.it [Abdus Salam ICTP, Strada Costiera 11, Trieste 34014 (Italy); Maharana, Anshuman, E-mail: anshumanmaharana@hri.res.in [Harish Chandra Research Institute, HBNI, Chattnag Road, Jhunsi, Allahabad 211019 (India)

    2017-05-10

    We study the production of primordial magnetic fields in inflationary models in type IIB string theory where the role of the inflaton is played by a Kahler modulus. We consider various possibilities to realise the Standard Model degrees of freedom in this setting and explicitly determine the time dependence of the inflaton coupling to the Maxwell term in the models. Using this we determine the strength and scale dependence of the magnetic fields generated during inflation. The usual “strong coupling problem” for primordial magnetogenesis manifests itself by cycle sizes approaching the string scale; this appears in a certain class of fibre inflation models where the standard model is realised by wrapping D7-branes on cycles in the geometric regime.

  13. Application of thoracic endovascular aortic repair (TEVAR) in treating dwarfism with Stanford B aortic dissection

    Science.gov (United States)

    Qiu, Jian; Cai, Wenwu; Shu, Chang; Li, Ming; Xiong, Qinggen; Li, Quanming; Li, Xin

    2018-01-01

    Abstract Rationale: To apply thoracic endovascular aortic repair (TEVAR) to treat dwarfism complicated with Stanford B aortic dissection. Patient concerns: In this report, we presented a 63-year-old male patient of dwarfism complicated with Stanford B aortic dissection successfully treated with TEVAR. Diagnoses: He was diagnosed with dwarfism complicated with Stanford B aortic dissection. Interventions: After conservative treatment, the male patient underwent TEVAR at 1 week after hospitalization. After operation, he presented with numbness and weakness of his bilateral lower extremities, and these symptoms were significantly mitigated after effective treatment. At 1- and 3-week after TEVAR, the aorta status was maintained stable and restored. Outcomes: The patient obtained favorable clinical prognosis and was smoothly discharged. During subsequent follow-up, he remained physically stable. Lessons: TEVAR is probably an option for treating dwarfism complicated with Stanford B aortic dissection, which remains to be validated by subsequent studies with larger sample size. PMID:29703033

  14. Severe mental deficiency, proportionate dwarfism, and delayed sexual maturation. A distinct inherited syndrome.

    Science.gov (United States)

    Cantú, J M; Sánchez-Corona, J; García-Cruz, D; Fragoso, R

    1980-01-01

    Two 46,XY brothers were found to have a previously undescribed syndrome characterized by severe mental deficiency, proportionate dwarfism, and delayed sexual development. A recessive mode of inheritance, either autosomal or X-linked, is assumed.

  15. Finite temperature effects in primordial inflation

    Science.gov (United States)

    Gelmini, G. B.; Nanopoulos, D. V.; Olive, K. A.

    1983-11-01

    We present a detailed study of a recently proposed model for primordial inflation based on an N=1 locally supersymmetric potential. For a large class of parameters with which all cosmological constraints are satisfied, the temperature corrections can be neglected during the inflation period. At higher temperatures, the minimum is not at the origin, but very close to it. Address after July 1, 1983: Theory Group, Fermilab, PO Box 500, Batavia, IL 60510, USA.

  16. Primordial Inflation Polarization Explorer: Status and Plans

    Science.gov (United States)

    Kogut, Alan

    2009-01-01

    The Primordial Inflation Polarization Explorer is a balloon-borne instrument to measure the polarization of the cosmic microwave background in order to detect the characteristic signature of gravity waves created during an inflationary epoch in the early universe. PIPER combines cold /I.G K\\ optics, 5120 bolometric detectors, and rapid polarization modulation using VPM grids to achieve both high sensitivity and excellent control of systematic errors. I will discuss the current status and plans for the PIPER instrument.

  17. Primordial anisotropies in gauged hybrid inflation

    Science.gov (United States)

    Akbar Abolhasani, Ali; Emami, Razieh; Firouzjahi, Hassan

    2014-05-01

    We study primordial anisotropies generated in the model of gauged hybrid inflation in which the complex waterfall field is charged under a U(1)gauge field. Primordial anisotropies are generated either actively during inflation or from inhomogeneities modulating the surface of end of inflation during waterfall transition. We present a consistent δN mechanism to calculate the anisotropic power spectrum and bispectrum. We show that the primordial anisotropies generated at the surface of end of inflation do not depend on the number of e-folds and therefore do not produce dangerously large anisotropies associated with the IR modes. Furthermore, one can find the parameter space that the anisotropies generated from the surface of end of inflation cancel the anisotropies generated during inflation, therefore relaxing the constrains on model parameters imposed from IR anisotropies. We also show that the gauge field fluctuations induce a red-tilted power spectrum so the averaged power spectrum from the gauge field can change the total power spectrum from blue to red. Therefore, hybrid inflation, once gauged under a U(1) field, can be consistent with the cosmological observations.

  18. Primordial anisotropies in gauged hybrid inflation

    International Nuclear Information System (INIS)

    Abolhasani, Ali Akbar; Emami, Razieh; Firouzjahi, Hassan

    2014-01-01

    We study primordial anisotropies generated in the model of gauged hybrid inflation in which the complex waterfall field is charged under a U(1)gauge field. Primordial anisotropies are generated either actively during inflation or from inhomogeneities modulating the surface of end of inflation during waterfall transition. We present a consistent δN mechanism to calculate the anisotropic power spectrum and bispectrum. We show that the primordial anisotropies generated at the surface of end of inflation do not depend on the number of e-folds and therefore do not produce dangerously large anisotropies associated with the IR modes. Furthermore, one can find the parameter space that the anisotropies generated from the surface of end of inflation cancel the anisotropies generated during inflation, therefore relaxing the constrains on model parameters imposed from IR anisotropies. We also show that the gauge field fluctuations induce a red-tilted power spectrum so the averaged power spectrum from the gauge field can change the total power spectrum from blue to red. Therefore, hybrid inflation, once gauged under a U(1) field, can be consistent with the cosmological observations

  19. Nuclear reaction rates and primordial 6Li

    International Nuclear Information System (INIS)

    Nollett, K.M.; Schramm, D.N.; Lemoine, M.; Schramm, D.N.; Lemoine, M.; Schramm, D.N.

    1997-01-01

    We examine the possibility that big-bang nucleosynthesis (BBN) may produce nontrivial amounts of 6 Li. If a primordial component of this isotope could be observed, it would provide a new fundamental test of big-bang cosmology, as well as new constraints on the baryon density of the universe. At present, however, theoretical predictions of the primordial 6 Li abundance are extremely uncertain due to difficulties in both theoretical estimates and experimental determinations of the 2 H(α,γ) 6 Li radiative capture reaction cross section. We also argue that present observational capabilities do not yet allow the detection of primeval 6 Li in very metal-poor stars of the galactic halo. However, if the critical cross section is very high in its plausible range and the baryon density is relatively low, then improvements in 6 Li detection capabilities may allow the establishment of 6 Li as another product of BBN. It is also noted that a primordial 6 Li detection could help resolve current concerns about the extragalactic D/H determination. copyright 1997 The American Physical Society

  20. Quantum inflaton, primordial perturbations, and CMB fluctuations

    International Nuclear Information System (INIS)

    Cao, F.J.; Vega, H.J. de; Sanchez, N.G.

    2004-01-01

    We compute the primordial scalar, vector and tensor metric perturbations arising from quantum field inflation. Quantum field inflation takes into account the nonperturbative quantum dynamics of the inflaton consistently coupled to the dynamics of the (classical) cosmological metric. For chaotic inflation, the quantum treatment avoids the unnatural requirements of an initial state with all the energy in the zero mode. For new inflation it allows a consistent treatment of the explosive particle production due to spinodal instabilities. Quantum field inflation (under conditions that are the quantum analog of slow-roll) leads, upon evolution, to the formation of a condensate starting a regime of effective classical inflation. We compute the primordial perturbations taking the dominant quantum effects into account. The results for the scalar, vector and tensor primordial perturbations are expressed in terms of the classical inflation results. For a N-component field in a O(N) symmetric model, adiabatic fluctuations dominate while isocurvature or entropy fluctuations are negligible. The results agree with the current Wilkinson Microwave Anisotropy Probe observations and predict corrections to the power spectrum in classical inflation. Such corrections are estimated to be of the order of (m 2 /NH 2 ), where m is the inflaton mass and H the Hubble constant at the moment of horizon crossing. An upper estimate turns to be about 4% for the cosmologically relevant scales. This quantum field treatment of inflation provides the foundations to the classical inflation and permits to compute quantum corrections to it

  1. Primordial nucleosynthesis revisited via Trojan Horse Results

    Directory of Open Access Journals (Sweden)

    Pizzone R.G.

    2016-01-01

    Full Text Available Big Bang Nucleosynthesis (BBN requires several nuclear physics inputs and nuclear reaction rates. An up-to-date compilation of direct cross sections of d(d,pt, d(d,n3He and 3He(d,p4He reactions is given, being these ones among the most uncertain bare-nucleus cross sections. An intense experimental effort has been carried on in the last decade to apply the Trojan Horse Method (THM to study reactions of relevance for the BBN and measure their astrophysical S(E-factor. The reaction rates and the relative error for the four reactions of interest are then numerically calculated in the temperature ranges of relevance for BBN (0.01primordial nucleosynthesis calculations in order to evaluate their impact on the calculated primordial abundances of D, 3,4He and 7Li. These were compared with the observational primordial abundance estimates in different astrophysical sites. A comparison was also performed with calculations using other reaction rates compilations available in literature.

  2. The primordial helium abundance from updated emissivities

    International Nuclear Information System (INIS)

    Aver, Erik; Olive, Keith A.; Skillman, Evan D.; Porter, R.L.

    2013-01-01

    Observations of metal-poor extragalactic H II regions allow the determination of the primordial helium abundance, Y p . The He I emissivities are the foundation of the model of the H II region's emission. Porter, Ferland, Storey, and Detisch (2012) have recently published updated He I emissivities based on improved photoionization cross-sections. We incorporate these new atomic data and update our recent Markov Chain Monte Carlo analysis of the dataset published by Izotov, Thuan, and Stasi'nska (2007). As before, cuts are made to promote quality and reliability, and only solutions which fit the data within 95% confidence level are used to determine the primordial He abundance. The previously qualifying dataset is almost entirely retained and with strong concordance between the physical parameters. Overall, an upward bias from the new emissivities leads to a decrease in Y p . In addition, we find a general trend to larger uncertainties in individual objects (due to changes in the emissivities) and an increased variance (due to additional objects included). From a regression to zero metallicity, we determine Y p = 0.2465 ± 0.0097, in good agreement with the BBN result, Y p = 0.2485 ± 0.0002, based on the Planck determination of the baryon density. In the future, a better understanding of why a large fraction of spectra are not well fit by the model will be crucial to achieving an increase in the precision of the primordial helium abundance determination

  3. Dental Abnormalities in Pituitary Dwarfism: A Case Report and Review of the Literature

    OpenAIRE

    Ferrante, Franco; Blasi, Sergio; Crippa, Rolando; Angiero, Francesca

    2017-01-01

    Hypopituitarism is a disorder caused by a reduced level of trophic hormones that may be consequent on different destructive processes. The clinical manifestations depend on the type of hormone involved. A deficiency of growth hormone (GH) in children causes the lack of growth known as pituitary dwarfism. The case is reported of a patient with pituitary dwarfism, multiple dental anomalies, functional prosthetic problems, and a revision of the literature. She was subjected to prosthetic rehabil...

  4. A unique virulence factor for proliferation and dwarfism in plants identified from a phytopathogenic bacterium

    OpenAIRE

    Hoshi, Ayaka; Oshima, Kenro; Kakizawa, Shigeyuki; Ishii, Yoshiko; Ozeki, Johji; Hashimoto, Masayoshi; Komatsu, Ken; Kagiwada, Satoshi; Yamaji, Yasuyuki; Namba, Shigetou

    2009-01-01

    One of the most important themes in agricultural science is the identification of virulence factors involved in plant disease. Here, we show that a single virulence factor, tengu-su inducer (TENGU), induces witches' broom and dwarfism and is a small secreted protein of the plant-pathogenic bacterium, phytoplasma. When tengu was expressed in Nicotiana benthamiana plants, these plants showed symptoms of witches' broom and dwarfism, which are typical of phytoplasma infection. Transgenic Arabidop...

  5. Cultural stereotypes and personal beliefs about individuals with dwarfism.

    Science.gov (United States)

    Heider, Jeremy D; Scherer, Cory R; Edlund, John E

    2013-01-01

    Three studies assessed the content of cultural stereotypes and personal beliefs regarding individuals with dwarfism among "average height" (i.e., non-dwarf) individuals. In Studies 1 and 2, undergraduates from three separate institutions selected adjectives to reflect traits constituting both the cultural stereotype about dwarves and their own personal beliefs about dwarves (cf. Devine & Elliot, 1995). The most commonly endorsed traits for the cultural stereotype tended to be negative (e.g., weird, incapable, childlike); the most commonly endorsed traits for personal beliefs were largely positive (e.g., capable, intelligent, kind). In Study 3, undergraduates from two separate institutions used an open-ended method to indicate their personal beliefs about dwarves (cf. Eagly, Mladinic, & Otto, 1994). Responses contained a mixture of positive and negative characteristics, suggesting a greater willingness to admit to negative personal beliefs using the open-ended method.

  6. Successful treatment of dwarfism secondary to long-term steroid therapy in steroid-dependent nephrotic syndrome.

    Science.gov (United States)

    Sun, Linlin; Chen, Dongping; Zhao, Xuezhi; Xu, Chenggang; Mei, Changlin

    2010-01-01

    Prolonged steroid therapy is generally used for steroid-dependent nephrotic syndrome in pediatric patients. However, dwarfism secondary to a long-term regimen and its successful reverse is rarely reported. The underlying mechanism of dwarfism is still poorly understood, as both long-term steroid use and nephrotic syndrome may interact or independently interfere with the process of growth. Here, we present a 17-year-old patient with dwarfism and steroid-dependent nephrotic syndrome and the successful treatment by recombinant human growth factor and cyclosporine A with withdrawal of steroid. We also briefly review the current understanding and the management of dwarfism in pediatric patients with nephrotic syndrome.

  7. Chiral primordial gravitational waves from a Lifshitz point.

    Science.gov (United States)

    Takahashi, Tomohiro; Soda, Jiro

    2009-06-12

    We study primordial gravitational waves produced during inflation in quantum gravity at a Lifshitz point proposed by Horava. Assuming power-counting renormalizability, foliation-preserving diffeomorphism invariance, and the condition of detailed balance, we show that primordial gravitational waves are circularly polarized due to parity violation. The chirality of primordial gravitational waves is a quite robust prediction of quantum gravity at a Lifshitz point which can be tested through observations of cosmic microwave background radiation and stochastic gravitational waves.

  8. Fingerprints of primordial universe paradigms as features in density perturbations

    International Nuclear Information System (INIS)

    Chen Xingang

    2011-01-01

    Experimentally distinguishing different primordial universe paradigms that lead to the Big Bang model is an outstanding challenge in modern cosmology and astrophysics. We show that a generic type of signals that exist in primordial universe models can be used for such purpose. These signals are induced by tiny oscillations of massive fields and manifest as features in primordial density perturbations. They are capable of recording the time-dependence of the scale factor of the primordial universe, and therefore provide direct evidence for specific paradigm. These signals present special opportunities and challenges for experiments and data analyses.

  9. Primordial black holes from passive density fluctuations

    International Nuclear Information System (INIS)

    Lin, Chia-Min; Ng, Kin-Wang

    2013-01-01

    In this Letter, we show that if passive fluctuations are considered, primordial black holes (PBHs) can be easily produced in the framework of single-field, slow-roll inflation models. The formation of PBHs is due to the blue spectrum of passive fluctuations and an enhancement of the spectral range which exits horizon near the end of inflation. Therefore the PBHs are light with masses ≲10 15 g depending on the number of e-folds when the scale of our observable universe leaves horizon. These PBHs are likely to have evaporated and cannot be a candidate for dark matter but they may still affect the early universe.

  10. Primordial black holes from passive density fluctuations

    OpenAIRE

    Lin, Chia-Min; Ng, Kin-Wang

    2013-01-01

    In this paper, we show that if passive fluctuations are considered, primordial black holes (PBHs) can be easily produced in the framework of single-field, slow-roll inflation models. The formation of PBHs is due to the blue spectrum of passive fluctuations and an enhancement of the spectral range which exits horizon near the end of inflation. Therefore the PBHs are light with masses $\\lesssim 10^{15}g$ depending on the number of e-folds when the scale of our observable universe leaves horizon...

  11. Identifying the inflaton with primordial gravitational waves.

    Science.gov (United States)

    Easson, Damien A; Powell, Brian A

    2011-05-13

    We explore the ability of experimental physics to uncover the underlying structure of the gravitational Lagrangian describing inflation. While the observable degeneracy of the inflationary parameter space is large, future measurements of observables beyond the adiabatic and tensor two-point functions, such as non-gaussianity or isocurvature modes, might reduce this degeneracy. We show that, even in the absence of such observables, the range of possible inflaton potentials can be reduced with a precision measurement of the tensor spectral index, as might be possible with a direct detection of primordial gravitational waves.

  12. Primordial hadrosynthesis in the Little Bang

    CERN Document Server

    Heinz, Ulrich W

    1999-01-01

    The present status of soft hadron production in high energy heavy-ion collisions is summarized. In spite of strong evidence for extensive dynamical evolution and collective expansion of the fireball before freeze-out I argue that its chemical composition is hardly changed by hadronic final state interactions. The measured hadron yields thus reflect the primordial conditions at hadronization. The observed production pattern is consistent with statistical hadronization at the Hagedorn temperature from a state of uncorrelated, color deconfined quarks and antiquarks, but requires non-trivial chemical evolution of the fireball in a prehadronic (presumably QGP) stage before hadron formation.

  13. Resolving primordial physics through correlated signatures

    OpenAIRE

    Enqvist, Kari; Mulryne, David J.; Nurmi, Sami

    2014-01-01

    We discuss correlations among spectral observables as a new tool for differentiating between models for the primordial perturbation. We show that if generated in the isocurvature sector, a running of the scalar spectral index is correlated with the statistical properties of non-Gaussianities. In particular, we find a large running will inevitably be accompanied by a large running of $f_{\\rm NL}$ and enhanced $g_{\\rm NL}$, with $g_{\\rm NL}\\gg f_{\\rm NL}^2$. If the tensor to scalar ratio is lar...

  14. Dwarfism in mice lacking collagen-binding integrins alpha 2 beta 1 and alpha 11 beta 1 is caused by severely diminished IGF-1 levels

    OpenAIRE

    Blumbach, Katrin; Niehoff, Anja; Belgardt, Bengt F.; Ehlen, Harald W.A.; Schmitz, Markus; Hallinger, Ralf; Schulz, Jan-Niklas; Brüning, Jens C.; Krieg, Thomas; Schubert, Markus; Gullberg, Donald; Eckes, Beate

    2012-01-01

    Mice with a combined deficiency in the α2β1 and α11β1 integrins lack the major receptors for collagen I. These mutants are born with inconspicuous differences in size but develop dwarfism within the first 4 weeks of life. Dwarfism correlates with shorter, less mineralized and functionally weaker bones that do not result from growth plate abnormalities or osteoblast dysfunction. Besides skeletal dwarfism, internal organs are correspondingly smaller, indicating proportional dwarfism and suggest...

  15. Gravitational waves from primordial black hole mergers

    Energy Technology Data Exchange (ETDEWEB)

    Raidal, Martti; Vaskonen, Ville; Veermäe, Hardi, E-mail: martti.raidal@cern.ch, E-mail: ville.vaskonen@kbfi.ee, E-mail: hardi.veermae@cern.ch [NICPB, Rävala 10, 10143 Tallinn (Estonia)

    2017-09-01

    We study the production of primordial black hole (PBH) binaries and the resulting merger rate, accounting for an extended PBH mass function and the possibility of a clustered spatial distribution. Under the hypothesis that the gravitational wave events observed by LIGO were caused by PBH mergers, we show that it is possible to satisfy all present constraints on the PBH abundance, and find the viable parameter range for the lognormal PBH mass function. The non-observation of a gravitational wave background allows us to derive constraints on the fraction of dark matter in PBHs, which are stronger than any other current constraint in the PBH mass range 0.5−30 M {sub ⊙}. We show that the predicted gravitational wave background can be observed by the coming runs of LIGO, and its non-observation would indicate that the observed events are not of primordial origin. As the PBH mergers convert matter into radiation, they may have interesting cosmological implications, for example in the context of relieving the tension between high and low redshift measurements of the Hubble constant. However, we find that these effects are suppressed as, after recombination, no more that 1% of dark matter can be converted into gravitational waves.

  16. Jupiter's evolution with primordial composition gradients

    Science.gov (United States)

    Vazan, Allona; Helled, Ravit; Guillot, Tristan

    2018-02-01

    Recent formation and structure models of Jupiter suggest that the planet can have composition gradients and not be fully convective (adiabatic). This possibility directly affects our understanding of Jupiter's bulk composition and origin. In this Letter we present Jupiter's evolution with a primordial structure consisting of a relatively steep heavy-element gradient of 40 M⊕. We show that for a primordial structure with composition gradients, most of the mixing occurs in the outer part of the gradient during the early evolution (several 107 yr), leading to an adiabatic outer envelope (60% of Jupiter's mass). We find that the composition gradient in the deep interior persists, suggesting that 40% of Jupiter's mass can be non-adiabatic with a higher temperature than the one derived from Jupiter's atmospheric properties. The region that can potentially develop layered convection in Jupiter today is estimated to be limited to 10% of the mass. Movies associated to Figs. 1-3 are available at http://https://www.aanda.org

  17. The statistical clustering of primordial black holes

    International Nuclear Information System (INIS)

    Carr, B.J.

    1977-01-01

    It is shown that Meszaros theory of galaxy formation, in which galaxies form from the density perturbations associated with the statistical fluctuation in the number density of primordial black holes, must be modified if the black holes are initially surrounded by regions of lower radiation density than average (as is most likely). However, even in this situation, the sort of effect Meszaros envisages does occur and could in principle cause galactic mass-scales to bind at the conventional time. In fact, the requirement that galaxies should not form prematurely implies that black holes could not have a critical density in the mass range above 10 5 M(sun). If the mass spectrum of primordial black holes falls off more slowly than m -3 (as expected), then the biggest black holes have the largest clustering effect. In this case the black hole clustering theory of galaxy formation reduces to the black hole seed theory of galaxy formation, in which each galaxy becomes bound under the gravitational influence of a single black hole nucleus. The seed theory could be viable only if the early Universe had a soft equation of state until a time exceeding 10 -4 s or if something prevented black hole formation before 1 s. (orig.) [de

  18. Summary of Recent Developments in Primordial Nucleosynthesis.

    Science.gov (United States)

    Schramm, D N

    1993-06-01

    This paper summarizes the recent observational and theoretical results on Big Bang Nucleosynthesis. In particular, it is shown that the new Pop II (6)Li results strongly support the argument that the Spite Plateau lithium is a good estimate of the primordial value. The (6)Li is consistent with the Be and Be found in Pop II stars, assuming those elements are cosmic ray produced. The HST (2)D value tightens the (2)D arguments and the observation of the (3)He in planetary nebula strengthens the (3)He +(2)D argument as a lower bound on Ωb. The new low metalicity (4)He determinations slightly raise the best primordial (4)He number and thus make a better fit and avoid a potential problem. The quark-hadron inspired inhomogeneous calculations now unanimously agree that only relatively small variations in Ωb are possible vis-à-vis the homogeneous model; hence, the robustness of Ωb∼ 0.05 is now apparent. A comparison with the ROSAT cluster data is also shown to be consistent with the standard BBN model. Ωb∼ 1 seems to be definitely excluded, so, if Ω= 1, as some recent observations may hint, then non-baryonic dark matter is required.

  19. Inflation and dark matter primordial black holes

    International Nuclear Information System (INIS)

    Erfani, Encieh

    2012-09-01

    In this thesis a broad range of single field models of inflation are analyzed in light of all relevant recent cosmological data, checking whether they can lead to the formation of long-lived Primordial Black Holes (PBHs) to serve as candidates for Dark Matter. To that end we calculate the spectral index of the power spectrum of primordial perturbations as well as its first and second derivatives. PBH formation is possible only if the spectral index increases significantly at small scales, i.e. large wave number k. Since current data indicate that the first derivative α S of the spectral index n S (k pivot ) is negative at the pivot scale k pivot , PBH formation is only possible in the presence of a sizable and positive second derivative (''running of the running'') β S . Among the three small-field and five large-field inflation models we analyze, only one small-field model, the ''running-mass'' model, allows PBH formation, for a narrow range of parameters. We also note that none of the models we analyze can accord for a large and negative value of α S , which is weakly preferred by current data. Similarly, proving conclusively that the second derivative of the spectral index is positive would exclude all the large-field models we investigated.

  20. Inflation and dark matter primordial black holes

    Energy Technology Data Exchange (ETDEWEB)

    Erfani, Encieh

    2012-09-15

    In this thesis a broad range of single field models of inflation are analyzed in light of all relevant recent cosmological data, checking whether they can lead to the formation of long-lived Primordial Black Holes (PBHs) to serve as candidates for Dark Matter. To that end we calculate the spectral index of the power spectrum of primordial perturbations as well as its first and second derivatives. PBH formation is possible only if the spectral index increases significantly at small scales, i.e. large wave number k. Since current data indicate that the first derivative {alpha}{sub S} of the spectral index n{sub S}(k{sub pivot}) is negative at the pivot scale k{sub pivot}, PBH formation is only possible in the presence of a sizable and positive second derivative (''running of the running'') {beta}{sub S}. Among the three small-field and five large-field inflation models we analyze, only one small-field model, the ''running-mass'' model, allows PBH formation, for a narrow range of parameters. We also note that none of the models we analyze can accord for a large and negative value of {alpha}{sub S}, which is weakly preferred by current data. Similarly, proving conclusively that the second derivative of the spectral index is positive would exclude all the large-field models we investigated.

  1. Cosmological implications of primordial black holes

    Energy Technology Data Exchange (ETDEWEB)

    Luis Bernal, José; Bellomo, Nicola; Raccanelli, Alvise; Verde, Licia, E-mail: joseluis.bernal@icc.ub.edu, E-mail: nicola.bellomo@icc.ub.edu, E-mail: alvise@icc.ub.edu, E-mail: liciaverde@icc.ub.edu [ICC, University of Barcelona, IEEC-UB, Martí i Franquès, 1, E08028 Barcelona (Spain)

    2017-10-01

    The possibility that a relevant fraction of the dark matter might be comprised of Primordial Black Holes (PBHs) has been seriously reconsidered after LIGO's detection of a ∼ 30 M {sub ⊙} binary black holes merger. Despite the strong interest in the model, there is a lack of studies on possible cosmological implications and effects on cosmological parameters inference. We investigate correlations with the other standard cosmological parameters using cosmic microwave background observations, finding significant degeneracies, especially with the tilt of the primordial power spectrum and the sound horizon at radiation drag. However, these degeneracies can be greatly reduced with the inclusion of small scale polarization data. We also explore if PBHs as dark matter in simple extensions of the standard ΛCDM cosmological model induces extra degeneracies, especially between the additional parameters and the PBH's ones. Finally, we present cosmic microwave background constraints on the fraction of dark matter in PBHs, not only for monochromatic PBH mass distributions but also for popular extended mass distributions. Our results show that extended mass distribution's constraints are tighter, but also that a considerable amount of constraining power comes from the high-ℓ polarization data. Moreover, we constrain the shape of such mass distributions in terms of the correspondent constraints on the PBH mass fraction.

  2. Statistical clustering of primordial black holes

    Energy Technology Data Exchange (ETDEWEB)

    Carr, B J [Cambridge Univ. (UK). Inst. of Astronomy

    1977-04-01

    It is shown that Meszaros theory of galaxy formation, in which galaxies form from the density perturbations associated with the statistical fluctuation in the number density of primordial black holes, must be modified if the black holes are initially surrounded by regions of lower radiation density than average (as is most likely). However, even in this situation, the sort of effect Meszaros envisages does occur and could in principle cause galactic mass-scales to bind at the conventional time. In fact, the requirement that galaxies should not form prematurely implies that black holes could not have a critical density in the mass range above 10/sup 5/ M(sun). If the mass spectrum of primordial black holes falls off more slowly than m/sup -3/ (as expected), then the biggest black holes have the largest clustering effect. In this case the black hole clustering theory of galaxy formation reduces to the black hole seed theory of galaxy formation, in which each galaxy becomes bound under the gravitational influence of a single black hole nucleus. The seed theory could be viable only if the early Universe had a soft equation of state until a time exceeding 10/sup -4/ s or if something prevented black hole formation before 1 s.

  3. Radiomorphometric examination of the sceleton in differential diagnostics of the endocrine dwarfism in children

    International Nuclear Information System (INIS)

    Preden, N.; Bannert, N.; Mohnike, K.; Keller, E.

    1984-01-01

    To determine the thickness of the cortical bone means to get a criterion for differential diagnostics of endocrine dwarfism in children. The somatotrophic hormone (STH) has besides other factors a deciding influence on the thickness of the compact substance. After the 4th year of life a positive exclusion of a deficiency in STH becomes possible by measurements of the thickness of the cortical substance. By the therapy of the hypothalamic-hypophyseal dwarfism used at present a making up growth in respect to the thickness of the cortical substance was not demonstrable. A deficiency in STH may be suspected in children suffering from a constitutional retardation in growth, but there was no positive delimitation to the group of hypothalamic-hypophyseal dwarfism. Generally all other relevant clinical pictures, also going along with a thinning of the cortical substance, may be discriminated from a deficiency in STH by the -2s limit. (author)

  4. Radiomorphometric examination of the sheleton in differential diagnostics of endocrine dwarfism in children

    Energy Technology Data Exchange (ETDEWEB)

    Preden, N.; Bannert, N.; Mohnike, K.; Keller, E.

    1984-01-01

    To determine the thickness of the cortical bone means to get a criterion for differential diagnostics of endocrine dwarfism in children. The somatotrophic hormone (STH) has besides other factors a deciding influence on the thickness of the compact substance. After the 4th year of life a positive exclusion of a deficiency in STH becomes possible by measurements of the thickness of the cortical substance. In the therapy of hypothalamic-hypophyseal dwarfism used at present a making up growth in respect to the thickness of the cortical substance was not demonstrable. A deficiency in STH may be suspected in children suffering from a constitutional retardation in growth, but there was no positive delimitation to the group of hypothalamic-hypophyseal dwarfism. Generally all other relevant clinical pictures, also going along with a thinning of the cortical substance, may be discriminated from a deficiency in STH by the -2s limit.

  5. Survivorship and complications of total hip arthroplasty in patients with dwarfism.

    Science.gov (United States)

    Modi, Ronuk M; Kheir, Michael M; Tan, Timothy L; Penny, Gregory S; Chen, Chi-Lung; Shao, Hongyi; Chen, Antonia F

    2017-09-19

    Total hip arthroplasty (THA) is a common procedure used to treat bony hip deformities and skeletal dysplasia in dwarfism. These surgeries are often more difficult than conventional THA as they may involve malformed joints and poor bone quality, and may require smaller prostheses. This study aims to investigate whether implant survivorship and revision rates vary among patients with and without dwarfism undergoing THA. A retrospective case-control study was performed for 102 THAs completed between 1997 and 2014 in patients under the height threshold of 147.32 cm. This cohort was matched 1:1.5 with patients of normal height with respect to age, gender, year of surgery, and Charlson comorbidities. All cases had a minimum follow-up of 1 year. A chart review was performed to identify patient and surgical characteristics, including outcomes. Radiographs were assessed for deformity, loosening, and periprosthetic fractures among other factors. The 2-, 5-, and 10-year survivorship of THA in patients with dwarfism was 92.9%, 92.9%, and 80.7%, respectively; and 94.4%, 86.4%, and 86.4% for controls, respectively (p = 0.95). The dwarfism cohort demonstrated an OR of 3.81 and 3.02 for revision for periprosthetic fractures (p = 0.11) and mechanical wear (p = 0.21), respectively. THA in patients with dwarfism achieves comparable results to a non-dwarfism population with regards to implant survivorship; however, there is a trend toward increased periprosthetic fractures and wear-related failures. Surgeons should be aware of this potentially higher risk in this population and take morphological differences into account during surgical planning and technique.

  6. Electroweak baryogenesis with primordial hypermagnetic fields

    International Nuclear Information System (INIS)

    Ayala, Alejandro; Pallares, Gabriel; Besprosvany, Jaime; Piccinelli, Gabriella

    2002-01-01

    Primordial magnetic fields, independently of their origin, could have had a significant influence over several physical processes that took place during the evolution of the early universe, in particular baryogenesis. Recall that for temperatures above the electroweak phase transition (T > 100 GeV), the symmetry of the standard model corresponded to the U(1)y hypercharge group, instead of the U(1)em electromagnetic group and are therefore properly called hypermagnetic fields. In this work, we show that during a first order electroweak phase transition, the presence of hypermagnetic fields produces an axial charge segregation in the reflection and transmission of fermions off the true vacuum bubbles. We also comment on the possible consequences that these processes have for the generation of baryon number during the phase transition

  7. Schwinger-Keldysh diagrammatics for primordial perturbations

    Science.gov (United States)

    Chen, Xingang; Wang, Yi; Xianyu, Zhong-Zhi

    2017-12-01

    We present a systematic introduction to the diagrammatic method for practical calculations in inflationary cosmology, based on Schwinger-Keldysh path integral formalism. We show in particular that the diagrammatic rules can be derived directly from a classical Lagrangian even in the presence of derivative couplings. Furthermore, we use a quasi-single-field inflation model as an example to show how this formalism, combined with the trick of mixed propagator, can significantly simplify the calculation of some in-in correlation functions. The resulting bispectrum includes the lighter scalar case (mcase (m>3H/2) that has not been explicitly computed for this model. The latter provides a concrete example of quantum primordial standard clocks, in which the clock signals can be observably large.

  8. Primordial Evolution in the Finitary Process Soup

    Science.gov (United States)

    Görnerup, Olof; Crutchfield, James P.

    A general and basic model of primordial evolution—a soup of reacting finitary and discrete processes—is employed to identify and analyze fundamental mechanisms that generate and maintain complex structures in prebiotic systems. The processes—ɛ-machines as defined in computational mechanics—and their interaction networks both provide well defined notions of structure. This enables us to quantitatively demonstrate hierarchical self-organization in the soup in terms of complexity. We found that replicating processes evolve the strategy of successively building higher levels of organization by autocatalysis. Moreover, this is facilitated by local components that have low structural complexity, but high generality. In effect, the finitary process soup spontaneously evolves a selection pressure that favors such components. In light of the finitary process soup's generality, these results suggest a fundamental law of hierarchical systems: global complexity requires local simplicity.

  9. The Search for Primordial Molecular Cloud Matter

    DEFF Research Database (Denmark)

    van Kooten, Elishevah M M E

    evolution. Some of the least altered, most primitive meteorites can give us clues to the original make-up of the interstellar molecular cloud from which the Sun and its surrounding planets formed, thus, permitting us to trace Solar System formation from its most early conditions. Using state......Our Solar System today presents a somewhat static picture compared to the turbulent start of its existence. Meteorites are the left-over building blocks of planet formation and allow us to probe the chemical and physical processes that occurred during the first few million years of Solar System...... prebiotic species such as amino acids, determining the formation pathways of this organic matter is of utmost importance to understanding the habitability of Earth as well as exoplanetary systems. Hence, further detailed analyses of organic matter in some of the meteorites with primordial signatures have...

  10. Spectrum evolution of primordial cosmic turbulence

    International Nuclear Information System (INIS)

    Futamase, T.; Matsuda, T.

    1980-01-01

    The evolution of primordial cosmic turbulence prior to the epoch of plasma recombination is investigated numerically using the Wiener-Hermite expansion technique which gives reasonable results for laboratory turbulence. It is found that the Kolmogorov spectrum is established only within a narrow range of wavenumber space for reasonable parameter sets, because the expansion of the Universe has a tendency to suppress an energy cascade from larger eddies to smaller ones. The present result does not agree with that obtained by Kurskov and Ozernoi, who computed the decay of turbulence in a fictitious non-expanding frame using the Heisenberg closure hypothesis, while it was done in a physical frame in the present work. (author)

  11. Primordial beryllium as a big bang calorimeter.

    Science.gov (United States)

    Pospelov, Maxim; Pradler, Josef

    2011-03-25

    Many models of new physics including variants of supersymmetry predict metastable long-lived particles that can decay during or after primordial nucleosynthesis, releasing significant amounts of nonthermal energy. The hadronic energy injection in these decays leads to the formation of ⁹Be via the chain of nonequilibrium transformations: Energy(h)→T, ³He→⁶He, ⁶Li→⁹Be. We calculate the efficiency of this transformation and show that if the injection happens at cosmic times of a few hours the release of O(10 MeV) per baryon can be sufficient for obtaining a sizable ⁹Be abundance. The absence of a plateau structure in the ⁹Be/H abundance down to a O(10⁻¹⁴) level allows one to use beryllium as a robust constraint on new physics models with decaying or annihilating particles.

  12. Primordial nucleosynthesis in the new cosmology

    International Nuclear Information System (INIS)

    Cyburt, R.H.

    2003-01-01

    Big bang nucleosynthesis (BBN) and the cosmic microwave background (CMB) anisotropies independently predict the universal baryon density. Comparing their predictions will provide a fundamental test on cosmology. Using BBN and the CMB together, we will be able to constrain particle physics, and predict the primordial, light element abundances. These future analyses hinge on new experimental and observational data. New experimental data on nuclear cross sections will help reduce theoretical uncertainties in BBN's predictions. New observations of light element abundances will further sharpen BBN's probe of the baryon density. Observations from the MAP and PLANCK satellites will measure the fluctuations in the CMB to unprecedented accuracy, allowing the precise determination of the baryon density. When combined, this data will present us with the opportunity to perform precision cosmology

  13. Chemotherapy dosing in achondroplastic dwarfism: a case report and review of literature.

    Science.gov (United States)

    Elsoueidi, R; Gresham, C; Michael, L; Chaney, D; Mourad, H

    2016-12-01

    CASE DESCRIPTION: A 74-year-old female with achondroplastic dwarfism was diagnosed with ER-, BR- and HER2- breast cancer. No guideline currently exists to direct chemotherapy dosing in this population. She received neoadjuvant chemotherapy based on body surface area utilizing actual height and weight with dose-dense doxorubicin and cyclophosphamide followed by paclitaxel with the use of granulocyte colony-stimulating factor. Satisfactory clinical response and remission were achieved, and treatment proceeded without any significant toxicity or delays. In the absence of guideline recommendations, dosing chemotherapy based on actual height and weight in patients with achondroplastic dwarfism may be safe and appropriate. © 2016 John Wiley & Sons Ltd.

  14. Dental Abnormalities in Pituitary Dwarfism: A Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Franco Ferrante

    2017-01-01

    Full Text Available Hypopituitarism is a disorder caused by a reduced level of trophic hormones that may be consequent on different destructive processes. The clinical manifestations depend on the type of hormone involved. A deficiency of growth hormone (GH in children causes the lack of growth known as pituitary dwarfism. The case is reported of a patient with pituitary dwarfism, multiple dental anomalies, functional prosthetic problems, and a revision of the literature. She was subjected to prosthetic rehabilitation without surgical intervention, using zirconium substructures, thus eliminating the potential complications that may require trauma surgery. The therapeutic approach adopted led to excellent results and restored an aesthetic smile.

  15. Grand unification scale primordial black holes: consequences and constraints.

    Science.gov (United States)

    Anantua, Richard; Easther, Richard; Giblin, John T

    2009-09-11

    A population of very light primordial black holes which evaporate before nucleosynthesis begins is unconstrained unless the decaying black holes leave stable relics. We show that gravitons Hawking radiated from these black holes would source a substantial stochastic background of high frequency gravititational waves (10(12) Hz or more) in the present Universe. These black holes may lead to a transient period of matter-dominated expansion. In this case the primordial Universe could be temporarily dominated by large clusters of "Hawking stars" and the resulting gravitational wave spectrum is independent of the initial number density of primordial black holes.

  16. Primordial Noble Gases from Earth's Core

    Science.gov (United States)

    Wang, K.; Lu, X.; Brodholt, J. P.

    2016-12-01

    Recent partitioning experiment suggests helium is more compatible in iron melt than in molten silicates at high pressures (> 10 GPa) (1), thus provide the possibility of the core as being the primordial noble gases warehouse that is responsible for the high primordial/radiogenic noble gas isotopic ratios observed in plume-related basalts. However, the possible transportation mechanism of the noble gases from the core to the overlying mantle is still ambiguous, understanding how this process would affect the noble gas isotopic characteristics of the mantle is critical to validate this core reservoir model. As diffusion is a dominant mass transport process that plays an important role in chemical exchange at the core-mantle boundary (CMB), we have determined the diffusion coefficients of helium, neon and argon in major lower mantle minerals, i.e. periclase (MgO), bridgemanite (MgSiO3-Pv) and post-perovskite (MgSiO3-PPv), by first-principles calculation based on density functional theory (DFT). As expected, the diffusion rate of helium is the fastest at the CMB, which is in the range of 3 × 10-10 to 1 × 10-8 m2/s. The neon diffusion is slightly slower, from 5 × 10-10 to 5 × 10-9 m2/s. Argon diffuses slowest at the rate from 1 × 10-10 to 2 × 10-10 m2/s. We have further simulated the evolution of noble gas isotopic ratios in the mantle near the CMB. Considering its close relationship with the mantle plumes and very likely to be the direct source of "hot-spot" basalts, we took a close investigation on the large low-shear-velocity provinces (LLSVPs). Under reasonable assumptions based on our diffusion parameters, the modelling results indicate that LLSVP is capable of generating all the noble gas isotope signals, e.g., 3He/4He = 55 Ra, 3He/22Ne = 3.1, 3He/36Ar = 0.82, 40Ar/36Ar = 9500, that are in good agreement with the observed values in "hot-spot" basalts (2). Therefore, this core-reservior hypothesis is a self-consistent model that can fits in multiple noble gas

  17. Dwarfism and insulin resistance in male offspring caused by α1-adrenergic antagonism during pregnancy

    Directory of Open Access Journals (Sweden)

    Rebecca Oelkrug

    2017-10-01

    Conclusions: Our results demonstrate that maternal α1-adrenergic blockade can constitute an epigenetic cause for dwarfism and insulin resistance. The findings are of immediate clinical relevance as combined α/β-adrenergic blockers are first-line treatment of maternal hypertension.

  18. Deletion in the EVC2 Gene Causes Chondrodysplastic Dwarfism in Tyrolean Grey Cattle

    Science.gov (United States)

    Murgiano, Leonardo; Jagannathan, Vidhya; Benazzi, Cinzia; Bolcato, Marilena; Brunetti, Barbara; Muscatello, Luisa Vera; Dittmer, Keren; Piffer, Christian; Gentile, Arcangelo; Drögemüller, Cord

    2014-01-01

    During the summer of 2013 seven Italian Tyrolean Grey calves were born with abnormally short limbs. Detailed clinical and pathological examination revealed similarities to chondrodysplastic dwarfism. Pedigree analysis showed a common founder, assuming autosomal monogenic recessive transmission of the defective allele. A positional cloning approach combining genome wide association and homozygosity mapping identified a single 1.6 Mb genomic region on BTA 6 that was associated with the disease. Whole genome re-sequencing of an affected calf revealed a single candidate causal mutation in the Ellis van Creveld syndrome 2 (EVC2) gene. This gene is known to be associated with chondrodysplastic dwarfism in Japanese Brown cattle, and dwarfism, abnormal nails and teeth, and dysostosis in humans with Ellis-van Creveld syndrome. Sanger sequencing confirmed the presence of a 2 bp deletion in exon 19 (c.2993_2994ACdel) that led to a premature stop codon in the coding sequence of bovine EVC2, and was concordant with the recessive pattern of inheritance in affected and carrier animals. This loss of function mutation confirms the important role of EVC2 in bone development. Genetic testing can now be used to eliminate this form of chondrodysplastic dwarfism from Tyrolean Grey cattle. PMID:24733244

  19. Morphometrics and behavior of a wild Asian elephant exhibiting disproportionate dwarfism.

    Science.gov (United States)

    de Silva, Shermin; Weerathunga, U Sameera; Pushpakumara, Tennekoon V

    2014-12-19

    Dwarfism is a condition characterized by shorter stature, at times accompanied by differential skeletal growth proportions relative to the species-typical physical conformation. Causes vary and are well-documented in humans as well as certain mammalian species in captive or laboratory conditions, but rarely observed in the wild. We report on a single case of apparent dwarfism in a free-ranging adult male Asian elephant in Sri Lanka, comparing physical dimensions to those of other males in the population as well as in previous literature. The subject M459 was found to have a shoulder height of approximately 195 cm, is shorter than the average height of typical mature males, with a body length of 218 cm. This ratio of body length to height deviates from what is typically observed, which is approximately 1:1, but was similar to the attributes of a dwarf elephant in captivity documented in 1955. We report on behavior including the surprising observation that M459 appears to have a competitive advantage in intrasexual contests. We discuss how this phenotype compares to cases of dwarfism in other non-human animals. M459 exemplifies a rare occurrence of disproportionate dwarfism in a free-ranging wild mammal that has survived to reproductive maturity and appears otherwise healthy.

  20. Intrauterine dwarfism, peculiar facies and thin bones with multiple fractures - a new syndrome

    International Nuclear Information System (INIS)

    Kozlowski, K.; Kan, A.; Royal Alexandra Hospital for Children, Sydney

    1988-01-01

    Three newborns with thin ribs and thin long bones with multiple fractures are reported. Whereas one patient presents a syndromic association of bone dysplasia and intrauterine dwarfism two other patients cannot be appropriately evaluated due to lack of basic clinical and pathologic data. (orig.)

  1. Genome-wide SNP association-based localization of a dwarfism gene in Friesian dwarf horses

    NARCIS (Netherlands)

    Orr, J.L.; Back, W.; Gu, J.; Leegwater, P.H.; Govindarajan, P.; Conroy, J.; Ducro, B.J.; Arendonk, van J.A.M.

    2010-01-01

    The recent completion of the horse genome and commercial availability of an equine SNP genotyping array has facilitated the mapping of disease genes. We report putative localization of the gene responsible for dwarfism, a trait in Friesian horses that is thought to have a recessive mode of

  2. A novel two-step method for screening shade tolerant mutant plants via dwarfism

    Science.gov (United States)

    When subjected to shade, plants undergo rapid shoot elongation, which often makes them more prone to disease and mechanical damage. It has been reported that, in turfgrass, induced dwarfism can enhance shade tolerance. Here, we describe a two-step procedure for isolating shade tolerant mutants of ...

  3. A truncated F-box protein confers the dwarfism in cucumber

    Science.gov (United States)

    Dwarfism is an important plant architecture trait for cucumber breeding. In the present study, we identified a dwarf mutant 406M in cucumber which showed a shorter internode length as compared with its wild type. In a BC1F2 population from the cross of 406M with its wild type parental line 406, the ...

  4. Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population

    OpenAIRE

    Woo, Eun Jin; Lee, Won-Joon; Hu, Kyung-Seok; Hwang, Jae Joon

    2015-01-01

    Skeletal dysplasias related to genetic etiologies have rarely been reported for past populations. This report presents the skeletal characteristics of an individual with dwarfism-related skeletal dysplasia from South Korea. To assess abnormal deformities, morphological features, metric data, and computed tomography scans are analyzed. Differential diagnoses include achondroplasia or hypochondroplasia, chondrodysplasia, multiple epiphyseal dysplasia, thalassemia-related hemolytic anemia, and l...

  5. [Panhypopituitarism and dwarfism in a man with a primary empty sella turcica (author's transl)].

    Science.gov (United States)

    Turpin, G; Jambart, S; de Gennes, J L

    1979-03-10

    Endocrine features associated with the primary empty sella turcica syndrom are rare; they are usually related to a pituitary microadenoma and more rarely to an idiopathic panhypop ituitarism. A pituitary dwarfism with an idiopathic panhypopituitarism of hypothalamic origin, associated with an "empty" sella turcica containing functional and stimulable pituitary tissue, is reported in a 27 year old male Moraccan.

  6. Cosmic microwave background constraints on primordial black hole dark matter

    Energy Technology Data Exchange (ETDEWEB)

    Aloni, Daniel; Blum, Kfir [Department of Particle Physics and Astrophysics, Weizmann Institute of Science, Herzl 234, Rehovot (Israel); Flauger, Raphael, E-mail: daniel.aloni@weizmann.ac.il, E-mail: kfir.blum@weizmann.ac.il, E-mail: flauger@physics.ucsd.edu [University of California, 9500 Gilman Drive 0319, La Jolla, San Diego, CA, 92093 (United States)

    2017-05-01

    We revisit cosmic microwave background (CMB) constraints on primordial black hole dark matter. Spectral distortion limits from COBE/FIRAS do not impose a relevant constraint. Planck CMB anisotropy power spectra imply that primordial black holes with m {sub BH}∼> 5 M {sub ⊙} are disfavored. However, this is susceptible to sizeable uncertainties due to the treatment of the black hole accretion process. These constraints are weaker than those quoted in earlier literature for the same observables.

  7. Primordial black holes survive SN lensing constraints

    Science.gov (United States)

    García-Bellido, Juan; Clesse, Sébastien; Fleury, Pierre

    2018-06-01

    It has been claimed in [arxiv:1712.02240] that massive primordial black holes (PBH) cannot constitute all of the dark matter (DM), because their gravitational-lensing imprint on the Hubble diagram of type Ia supernovae (SN) would be incompatible with present observations. In this note, we critically review those constraints and find several caveats on the analysis. First of all, the constraints on the fraction α of PBH in matter seem to be driven by a very restrictive choice of priors on the cosmological parameters. In particular, the degeneracy between Ωm and α was ignored and thus, by fixing Ωm, transferred the constraining power of SN magnitudes to α. Furthermore, by considering more realistic physical sizes for the type-Ia supernovae, we find an effect on the SN lensing magnification distribution that leads to significantly looser constraints. Moreover, considering a wide mass spectrum of PBH, such as a lognormal distribution, further softens the constraints from SN lensing. Finally, we find that the fraction of PBH that could constitute DM today is bounded by fPBH < 1 . 09(1 . 38) , for JLA (Union 2.1) catalogs, and thus it is perfectly compatible with an all-PBH dark matter scenario in the LIGO band.

  8. Primordial non-Gaussianity from LAMOST surveys

    International Nuclear Information System (INIS)

    Gong Yan; Wang Xin; Chen Xuelei; Zheng Zheng

    2010-01-01

    The primordial non-Gaussianity (PNG) in the matter density perturbation is a very powerful probe of the physics of the very early Universe. The local PNG can induce a distinct scale-dependent bias on the large scale structure distribution of galaxies and quasars, which could be used for constraining it. We study the detection limits of PNG from the surveys of the LAMOST telescope. The cases of the main galaxy survey, the luminous red galaxy (LRG) survey, and the quasar survey of different magnitude limits are considered. We find that the Main1 sample (i.e. the main galaxy survey which is one magnitude deeper than the SDSS main galaxy survey, or r NL are |f NL | NL | NL | is between 50 and 103, depending on the magnitude limit of the survey. With Planck-like priors on cosmological parameters, the quasar survey with g NL | < 43 (2σ). We also discuss the possibility of further tightening the constraint by using the relative bias method proposed by Seljak.

  9. Super-horizon primordial black holes

    International Nuclear Information System (INIS)

    Harada, Tomohiro; Carr, B.J.

    2005-01-01

    We discuss a new class of solutions to the Einstein equations which describe a primordial black hole (PBH) in a flat Friedmann background. Such solutions arise if a Schwarzschild black hole is patched onto a Friedmann background via a transition region. They are possible providing the black hole event horizon is larger than the cosmological apparent horizon. Such solutions have a number of strange features. In particular, one has to define the black hole and cosmological horizons carefully and one then finds that the mass contained within the black hole event horizon decreases when the black hole is larger than the Friedmann cosmological apparent horizon, although its area always increases. These solutions involve two distinct future null infinities and are interpreted as the conversion of a white hole into a black hole. Although such solutions may not form from gravitational collapse in the same way as standard PBHs, there is nothing unphysical about them, since all energy and causality conditions are satisfied. Their conformal diagram is a natural amalgamation of the Kruskal diagram for the extended Schwarzschild solution and the conformal diagram for a black hole in a flat Friedmann background. In this paper, such solutions are obtained numerically for a spherically symmetric universe containing a massless scalar field, but it is likely that they exist for more general matter fields and less symmetric systems

  10. Primordial black hole detection through diffractive microlensing

    Science.gov (United States)

    Naderi, T.; Mehrabi, A.; Rahvar, S.

    2018-05-01

    Recent observations of gravitational waves motivate investigations for the existence of primordial black holes (PBHs). We propose the observation of gravitational microlensing of distant quasars for the range of infrared to the submillimeter wavelengths by sublunar PBHs as lenses. The advantage of observations in the longer wavelengths, comparable to the Schwarzschild radius of the lens (i.e., Rsch≃λ ) is the detection of the wave optics features of the gravitational microlensing. The observation of diffraction pattern in the microlensing light curve of a quasar can break the degeneracy between the lens parameters and determine directly the lens mass as well as the distance of the lens from the observer. We estimate the wave optics optical-depth, also calculate the rate of ˜0.1 to ˜0.3 event per year per a quasar, assuming that hundred percent of dark matter is made of sublunar PBHs. Also, we propose a long-term survey of quasars with the cadence of almost one hour to few days to resolve the wave optics features of the light curves to discover PBHs and determine the fraction of dark matter made of sublunar PBHs as well as their mass function.

  11. The Primordial Inflation Explorer (PIXIE) Mission

    Science.gov (United States)

    Kogut, Alan J.; Chuss, David T.; Dotson, Jessie L.; Fixsen, Dale J.; Halpern, Mark; Hinshaw, Gary F.; Meyer, Stephan M.; Moseley, S. Harvey; Seiffert, Michael D.; Spergel, David N.; hide

    2011-01-01

    The Primordial Inflation Explorer (PIXIE) is an Explorer-class mission to map the absolute intensity and linear polarization of the cosmic microwave background and diffuse astrophysical foregrounds over the full sky from frequencies 30 GHz to 6 THz (I cm to 50 I-tm wavelength). PIXIE uses a polarizing Michelson interferometer with 2.7 K optics to measure the difference spectrum between two orthogonal linear polarizations from two co-aligned beams. Either input can view either the sky or a temperature-controlled absolute reference blackbody calibrator. The multimoded optics and high etendu provide sensitivity comparable to kilo-pixel focal plane arrays, but with greatly expanded frequency coverage while using only 4 detectors total. PIXIE builds on the highly successful COBEIFIRAS design by adding large-area polarization-sensitive detectors whose fully symmetric optics are maintained in thermal equilibrium with the CMB. The highly symmetric nulled design provides redundant rejection of major sources of systematic uncertainty. The principal science goal is the detection and characterization of linear polarization from an inflationary epoch in the early universe, with tensor-to-scalar ratio r much less than 10(exp -3). PIXIE will also return a rich data set constraining physical processes ranging from Big Bang cosmology, reionization, and large-scale structure to the local interstellar medium. Keywords: cosmic microwave background, polarization, FTS, bolometer

  12. The origin, evolution and signatures of primordial magnetic fields.

    Science.gov (United States)

    Subramanian, Kandaswamy

    2016-07-01

    The universe is magnetized on all scales probed so far. On the largest scales, galaxies and galaxy clusters host magnetic fields at the micro Gauss level coherent on scales up to ten kpc. Recent observational evidence suggests that even the intergalactic medium in voids could host a weak  ∼  10(-16) Gauss magnetic field, coherent on Mpc scales. An intriguing possibility is that these observed magnetic fields are a relic from the early universe, albeit one which has been subsequently amplified and maintained by a dynamo in collapsed objects. We review here the origin, evolution and signatures of primordial magnetic fields. After a brief summary of magnetohydrodynamics in the expanding universe, we turn to magnetic field generation during inflation and phase transitions. We trace the linear and nonlinear evolution of the generated primordial fields through the radiation era, including viscous effects. Sensitive observational signatures of primordial magnetic fields on the cosmic microwave background, including current constraints from Planck, are discussed. After recombination, primordial magnetic fields could strongly influence structure formation, especially on dwarf galaxy scales. The resulting signatures on reionization, the redshifted 21 cm line, weak lensing and the Lyman-α forest are outlined. Constraints from radio and γ-ray astronomy are summarized. Astrophysical batteries and the role of dynamos in reshaping the primordial field are briefly considered. The review ends with some final thoughts on primordial magnetic fields.

  13. Application of thoracic endovascular aortic repair (TEVAR) in treating dwarfism with Stanford B aortic dissection: A case report.

    Science.gov (United States)

    Qiu, Jian; Cai, Wenwu; Shu, Chang; Li, Ming; Xiong, Qinggen; Li, Quanming; Li, Xin

    2018-04-01

    To apply thoracic endovascular aortic repair (TEVAR) to treat dwarfism complicated with Stanford B aortic dissection. In this report, we presented a 63-year-old male patient of dwarfism complicated with Stanford B aortic dissection successfully treated with TEVAR. He was diagnosed with dwarfism complicated with Stanford B aortic dissection. After conservative treatment, the male patient underwent TEVAR at 1 week after hospitalization. After operation, he presented with numbness and weakness of his bilateral lower extremities, and these symptoms were significantly mitigated after effective treatment. At 1- and 3-week after TEVAR, the aorta status was maintained stable and restored. The patient obtained favorable clinical prognosis and was smoothly discharged. During subsequent follow-up, he remained physically stable. TEVAR is probably an option for treating dwarfism complicated with Stanford B aortic dissection, which remains to be validated by subsequent studies with larger sample size.

  14. The Formation of Primordial Luminous Objects

    International Nuclear Information System (INIS)

    Ripamonti, Emanuele; Kapteyn Astron. Inst., Groningen; Abel, Tom; KIPAC, Menlo Park

    2005-01-01

    The scientific belief that the universe evolves in time is one of the legacies of the theory of the Big Bang. The concept that the universe has an history started to attract the interest of cosmologists soon after the first formulation of the theory: already Gamow (1948; 1949) investigated how and when galaxies could have been formed in the context of the expanding Universe. However, the specific topic of the formation (and of the fate) of the first objects dates to two decades later, when no objects with metallicities as low as those predicted by primordial nucleosynthesis (Z ∼ -10 ∼ 10 -8 Z # circle d ot#) were found. Such concerns were addressed in two seminal papers by Peebles and Dicke (1968; hereafter PD68) and by Doroshkevich, Zel'Dovich and Novikov (1967; hereafter DZN67), introducing the idea that some objects could have formed before the stars we presently observe. (1) Both PD68 and DZN67 suggest a mass of ∼ 10 5 M # circle d ot# for the first generation of bound systems, based on the considerations on the cosmological Jeans length (Gamow 1948; Peebles 1965) and the possible shape of the power spectrum. (2) They point out the role of thermal instabilities in the formation of the proto-galactic bound object, and of the cooling of the gas inside it; in particular, PD68 introduces H 2 cooling and chemistry in the calculations about the contraction of the gas. (3) Even if they do not specifically address the occurrence of fragmentation, these papers make two very different assumptions: PD68 assumes that the gas will fragment into ''normal'' stars to form globular clusters, while DZN67 assumes that fragmentation does not occur, and that a single ''super-star'' forms. (4) Finally, some feedback effects as considered (e.g. Peebles and Dicke considered the effects of supernovae). Today most of the research focuses on the issues when fragmentation may occur, what objects are formed and how they influence subsequent structure formation. In these notes we will

  15. Primordial power spectrum features and consequences

    Science.gov (United States)

    Goswami, G.

    2014-03-01

    The present Cosmic Microwave Background (CMB) temperature and polarization anisotropy data is consistent with not only a power law scalar primordial power spectrum (PPS) with a small running but also with the scalar PPS having very sharp features. This has motivated inflationary models with such sharp features. Recently, even the possibility of having nulls in the power spectrum (at certain scales) has been considered. The existence of these nulls has been shown in linear perturbation theory. What shall be the effect of higher order corrections on such nulls? Inspired by this question, we have attempted to calculate quantum radiative corrections to the Fourier transform of the 2-point function in a toy field theory and address the issue of how these corrections to the power spectrum behave in models in which the tree-level power spectrum has a sharp dip (but not a null). In particular, we have considered the possibility of the relative enhancement of radiative corrections in a model in which the tree-level spectrum goes through a dip in power at a certain scale. The mode functions of the field (whose power spectrum is to be evaluated) are chosen such that they undergo the kind of dynamics that leads to a sharp dip in the tree level power spectrum. Next, we have considered the situation in which this field has quartic self interactions, and found one loop correction in a suitably chosen renormalization scheme. Thus, we have attempted to answer the following key question in the context of this toy model (which is as important in the realistic case): In the chosen renormalization scheme, can quantum radiative corrections be enhanced relative to tree-level power spectrum at scales, at which sharp dips appear in the tree-level spectrum?

  16. The Primordial Inflation Polarization Explorer (PIPER)

    Science.gov (United States)

    Lazear, Justin Scott; Ade, Peter A.; Benford, Dominic J.; Bennett, Charles L.; Chuss, David T.; Dotson, Jessie L.; Eimer, Joseph R.; Fixsen, Dale J.; Halpern, Mark; Hinderks, James; hide

    2014-01-01

    The Primordial Inflation Polarization ExploreR (Piper) is a balloon-borne cosmic microwave background (CMB) polarimeter designed to search for evidence of inflation by measuring the large-angular scale CMB polarization signal. Bicep2 recently reported a detection of B-mode power corresponding to the tensor-to-scalar ratio r = 0.2 on approximately 2 degree scales. If the Bicep2 signal is caused by inflationary gravitational waves (IGWs), then there should be a corresponding increase in B-mode power on angular scales larger than 18 degrees. Piper is currently the only suborbital instrument capable of fully testing and extending the Bicep2 results by measuring the B-mode power spectrum on angular scales theta ? = approximately 0.6 deg to 90 deg, covering both the reionization bump and recombination peak, with sensitivity to measure the tensor-to-scalar ratio down to r = 0.007, and four frequency bands to distinguish foregrounds. Piper will accomplish this by mapping 85% of the sky in four frequency bands (200, 270, 350, 600 GHz) over a series of 8 conventional balloon flights from the northern and southern hemispheres. The instrument has background-limited sensitivity provided by fully cryogenic (1.5 K) optics focusing the sky signal onto four 32×40-pixel arrays of time-domain multiplexed Transition-Edge Sensor (TES) bolometers held at 140 milli-Kelvin. Polarization sensitivity and systematic control are provided by front-end Variabledelay Polarization Modulators (VPMs), which rapidly modulate only the polarized sky signal at 3 Hz and allow Piper to instantaneously measure the full Stokes vector (I,Q,U,0V) for each pointing. We describe the Piper instrument and progress towards its first flight.

  17. Some cosmological consequences of primordial black-hole evaporations

    International Nuclear Information System (INIS)

    Carr, B.J.

    1976-01-01

    According to Hawking, primordial black holes of less than 10 15 g would have evaporated by now. This paper examines the way in which small primordial black holes could thereby have contributed to the background density of photons, nucleons, neutrinos, electrons, and gravitons in the universe. Any photons emitted late enough should maintain their emission temperature apart from a redshift effect: it is shown that the biggest contribution should come from primordial black holes of about 10 15 g, which evaporate in the present era, and it is argued that observations of the γ-ray background indicate that primordial black holes of this size must have a mean density less than 10 -8 times the critical density. Photons which were emitted sufficiently early to be thermalized could, in principle, have generated the 3 K background in an initially cold universe, but only if the density fluctuations in the early universe had a particular form and did not extend up to a mass scale of 10 15 g. Primordial black holes of less than 10 14 g should emit nucleons: it is shown that such nucleons could not contribute appreciably to the cosmic-ray background. However, nucleon emission could have generated the observed number density of baryons in an initially baryon-symmetric universe, provided some CP-violating process operates in black hole evaporations such that more baryons are always produced than antibaryons. We predict the spectrum of neutrinos, electrons, and gravitons which should result from primordial black-hole evaporations and show that the observational limits on the background electron flux might place a stronger limitation on the number of 10 15 g primordial black holes than the γ-ray observations. Finally, we examine the limits that various observations place on the strength of any long-range baryonic field whose existence might be hypothesized as a means of preserving baryon number in black-hole evaporations

  18. Morphological anomaly of primordial follicle in {gamma}-irradiated mice

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jin Kyu; Lee, Chang Joo; Lee, Young Dal [Korea Atomic Energy Research Institute, Taejon (Korea, Republic of)

    1999-08-01

    Ovarian follicles are faced with one of two fates, atresia or development. Up to 99% of follicles become degenerated rather than ovulated in female life span. Thus, atresia occurs at all stages of follicle development in mammalian ovaries. In the present experiment, the effect of {gamma}-radiation on primordial follicles was morphologically analyzed in a mouse ovary. Thirty-seven percent of the primordial follicles in the non-irradiated control mice ovaries were abnormal. At day 8 post irradiation, most of primordial follicles became atretic. They lost their integrity of architecture in the follicular shape. Then, all the oocytes disappeared from the follicles. And only 3 to 4 granulosa cells lay down onto the basement membrane. Disappearance of granulosa cells or oocytes resulted from the radiation-induced apoptotic process. It is definitely clear that {gamma}-radiation induces rapid apoptotic degeneration of the primordial follicles. The morphological degeneration induced by radiation in the primordial follicles can be used as an experimental model to draw out a deeper insight for radioprotectant researches. (author). 22 refs., 4 figs.

  19. [Persistence of the primordial vitreous body and buphthalmos].

    Science.gov (United States)

    Cernea, P; Simionescu, C; Bosun, I

    1995-01-01

    Persistence of the hyperplasic primordial vitreous body is determined by a deletion of embryonal development of the vitreous body and of the hyaloid vascular system. Infant aged 3.5 years presents persistence of primordial vitreous body with crystalline dislocation in the camera aquosa and secondary buphthalmos of the left eye and microphthalmos with dislocation of the crystalline in the vitreous body of the right eye. At the back of the right eye we noticed a whitish mass, richly vascularized with vestiges from the hyaloid artery, but the posterior half of the vitreous cavity is filled with microscopic blood; the fibrovascular membrane is made of conjunctive tissue set in parallel layers and vessels with macrolipophagic degeneration. Microscopic investigation of retina reveals glial hyperplasia zones in the neighbourhood of the vitreous body. In the present paper the authors show the persistence of the primordial vitreous body in the left eye and bilateral dislocation of the crystalline, revealing multiple ocular malformations.

  20. Direct search for features in the primordial bispectrum

    Directory of Open Access Journals (Sweden)

    Stephen Appleby

    2016-09-01

    Full Text Available We study features in the bispectrum of the primordial curvature perturbation correlated with the reconstructed primordial power spectrum from the observed cosmic microwave background temperature data. We first show how the bispectrum can be completely specified in terms of the power spectrum and its first two derivatives, valid for any configuration of interest. Then using a model-independent reconstruction of the primordial power spectrum from the Planck angular power spectrum of temperature anisotropies, we compute the bispectrum in different triangular configurations. We find that in the squeezed limit at k∼0.06 Mpc−1 and k∼0.014 Mpc−1 there are marginal 2σ deviations from the standard featureless bispectrum, which meanwhile is consistent with the reconstructed bispectrum in the equilateral configuration.

  1. Standard Clock in primordial density perturbations and cosmic microwave background

    International Nuclear Information System (INIS)

    Chen, Xingang; Namjoo, Mohammad Hossein

    2014-01-01

    Standard Clocks in the primordial epoch leave a special type of features in the primordial perturbations, which can be used to directly measure the scale factor of the primordial universe as a function of time a(t), thus discriminating between inflation and alternatives. We have started to search for such signals in the Planck 2013 data using the key predictions of the Standard Clock. In this Letter, we summarize the key predictions of the Standard Clock and present an interesting candidate example in Planck 2013 data. Motivated by this candidate, we construct and compute full Standard Clock models and use the more complete prediction to make more extensive comparison with data. Although this candidate is not yet statistically significant, we use it to illustrate how Standard Clocks appear in Cosmic Microwave Background (CMB) and how they can be further tested by future data. We also use it to motivate more detailed theoretical model building

  2. Radioimmunoassay of thyroid related hormones in evaluation of secondary hypothyroidism in pituitary dwarfism

    International Nuclear Information System (INIS)

    Gembicki, M.; Kosowicz, J.; Sobieszczyk, S.

    1982-01-01

    The aim of our studies was the evaluation of thyroid function in 32 patients with idiopathic pituitary dwarfism. Serum T 4 , T 3 , reverse T 3 /rT 3 / and TSH were determined by radioimmunoassay. T 4 in pituitary dwarfs ranged from 0.6 to 7.6 ug/dl, T 3 was between 41 and 124 ng/dl and rT 3 ranged from 5 to 24 ng/dl. The ranges of T 4 , T 3 and rT 3 concentration were lower comparing with controls. In 18 patients a normal rise of TSH after TRH stimulation was observed, in 14 patients the response to TRH was absent or markedly decreased. Seven days administration of TRH, 200 mcg daily i.v. did not enhance pituitary response to TRH stimulation. These results indicate that in a nearly half of patients with idiopathic dwarfism secondary hypthyroidism develops as a results of insufficient TSH secretion. (Author)

  3. [Mutation analysis of FGFR3 gene in a family featuring hereditary dwarfism].

    Science.gov (United States)

    Zhang, Qiong; Jiang, Hai-ou; Quan, Qing-li; Li, Jun; He, Ting; Huang, Xue-shuang

    2011-12-01

    To investigate the clinical symptoms and potential mutation in FGFR3 gene for a family featuring hereditary dwarfism in order to attain diagnosis and provide prenatal diagnosis. Five patients and two unaffected relatives from the family, in addition with 100 healthy controls, were recruited. Genome DNA was extracted. Exons 10 and 13 of the FGFR3 gene were amplified using polymerase chain reaction (PCR). PCR products were sequenced in both directions. All patients had similar features including short stature, short limbs, lumbar hyperlordosis but normal craniofacial features. A heterozygous mutation G1620T (N540K) was identified in the cDNA from all patients but not in the unaffected relatives and 100 control subjects. A heterozygous G380R mutation was excluded. The hereditary dwarfism featured by this family has been caused by hypochondroplasia (HCH) due to a N540K mutation in the FGFR3 gene.

  4. A unique virulence factor for proliferation and dwarfism in plants identified from a phytopathogenic bacterium

    Science.gov (United States)

    Hoshi, Ayaka; Oshima, Kenro; Kakizawa, Shigeyuki; Ishii, Yoshiko; Ozeki, Johji; Hashimoto, Masayoshi; Komatsu, Ken; Kagiwada, Satoshi; Yamaji, Yasuyuki; Namba, Shigetou

    2009-01-01

    One of the most important themes in agricultural science is the identification of virulence factors involved in plant disease. Here, we show that a single virulence factor, tengu-su inducer (TENGU), induces witches' broom and dwarfism and is a small secreted protein of the plant-pathogenic bacterium, phytoplasma. When tengu was expressed in Nicotiana benthamiana plants, these plants showed symptoms of witches' broom and dwarfism, which are typical of phytoplasma infection. Transgenic Arabidopsis thaliana lines expressing tengu exhibited similar symptoms, confirming the effects of tengu expression on plants. Although the localization of phytoplasma was restricted to the phloem, TENGU protein was detected in apical buds by immunohistochemical analysis, suggesting that TENGU was transported from the phloem to other cells. Microarray analyses showed that auxin-responsive genes were significantly down-regulated in the tengu-transgenic plants compared with GUS-transgenic control plants. These results suggest that TENGU inhibits auxin-related pathways, thereby affecting plant development. PMID:19329488

  5. A frameshift mutation in GON4L is associated with proportionate dwarfism in Fleckvieh cattle.

    Science.gov (United States)

    Schwarzenbacher, Hermann; Wurmser, Christine; Flisikowski, Krzysztof; Misurova, Lubica; Jung, Simone; Langenmayer, Martin C; Schnieke, Angelika; Knubben-Schweizer, Gabriela; Fries, Ruedi; Pausch, Hubert

    2016-03-31

    Low birth weight and postnatal growth restriction are the most evident symptoms of dwarfism. Accompanying skeletal aberrations may compromise the general condition and locomotion of affected individuals. Several paternal half-sibs with a low birth weight and a small size were born in 2013 in the Fleckvieh cattle population. Affected calves were strikingly underweight at birth in spite of a normal gestation length and had craniofacial abnormalities such as elongated narrow heads and brachygnathia inferior. In spite of a normal general condition, their growth remained restricted during rearing. We genotyped 27 affected and 10,454 unaffected animals at 44,672 single nucleotide polymorphisms and performed association tests followed by homozygosity mapping, which allowed us to map the locus responsible for growth failure to a 1.85-Mb segment on bovine chromosome 3. Analysis of whole-genome re-sequencing data from one affected and 289 unaffected animals revealed a 1-bp deletion (g.15079217delC, rs723240647) in the coding region of the GON4L gene that segregated with the dwarfism-associated haplotype. We showed that the deletion induces intron retention and premature termination of translation, which can lead to a severely truncated protein that lacks domains that are likely essential to normal protein function. The widespread use of an undetected carrier bull for artificial insemination has resulted in a tenfold increase in the frequency of the deleterious allele in the female population. A frameshift mutation in GON4L is associated with autosomal recessive proportionate dwarfism in Fleckvieh cattle. The mutation has segregated in the population for more than 50 years without being recognized as a genetic disorder. However, the widespread use of an undetected carrier bull for artificial insemination caused a sudden accumulation of homozygous calves with dwarfism. Our findings provide the basis for genome-based mating strategies to avoid the inadvertent mating of carrier

  6. Total knee arthroplasty in a pseudoachondroplastic dwarfism patient with bilateral patellar dislocation.

    Science.gov (United States)

    Oh, Kwang-Jun; Yoon, Jung-Ro; Yang, Jae-Hyuk

    2013-01-01

    Late presentation of congenital patellar dislocation with advanced osteoarthritis is rare. This article presents a case of a 59-year-old man with underlying pseudoachondroplastic dwarfism. Advanced osteoarthritis due to bilateral neglected congenital patellar dislocation was treated with total knee arthroplasty without patella relocation surgery. Two years later, the patient had an improvement in Knee Society scores, painless function, and stability. Copyright © 2012 Elsevier B.V. All rights reserved.

  7. Pituitary dwarfism in Saarloos and Czechoslovakian wolfdogs is associated with a mutation in LHX3.

    Science.gov (United States)

    Voorbij, A M W Y; Leegwater, P A; Kooistra, H S

    2014-01-01

    Pituitary dwarfism in German Shepherd Dogs is associated with autosomal recessive inheritance and a mutation in LHX3, resulting in combined pituitary hormone deficiency. Congenital dwarfism also is encountered in breeds related to German Shepherd Dogs, such as Saarloos and Czechoslovakian wolfdogs. To investigate whether Saarloos and Czechoslovakian wolfdog dwarfs have the same LHX3 mutation as do Germans Shepherd Dog dwarfs. A specific aim was to determine the carrier frequency among Saarloos and Czechoslovakian wolfdogs used for breeding. Two client-owned Saarloos wolfdogs and 4 client-owned Czechoslovakian wolfdogs with pituitary dwarfism, 239 clinically healthy client-owned Saarloos wolfdogs, and 200 client-owned clinically healthy Czechoslovakian wolfdogs. Genomic DNA was amplified using polymerase chain reaction (PCR). In the Saarloos and Czechoslovakian wolfdog dwarfs, PCR products were analyzed by sequencing. DNA fragment length analysis was performed on the samples from the clinically healthy dogs. Saarloos and Czechoslovakian wolfdog dwarfs have the same 7 bp deletion in intron 5 of LHX3 as do German Shepherd Dog dwarfs. The frequency of carriers of this mutation among clinically healthy Saarloos and Czechoslovakian wolfdogs used for breeding was 31% and 21%, respectively. An LHX3 mutation is associated with pituitary dwarfism in Saarloos and Czechoslovakian wolfdogs. The rather high frequency of carriers of the mutated gene in the 2 breeds emphasizes the need for screening before breeding. If all breeding animals were genetically tested for the presence of the LHX3 mutation and a correct breeding policy would be implemented, this disease could be eradicated completely. Copyright © 2014 by the American College of Veterinary Internal Medicine.

  8. Skeletal dysplasia with craniofacial deformity and disproportionate dwarfism in hair sheep of northeastern Brazil.

    Science.gov (United States)

    Dantas, F P M; Medeiros, G X; Figueiredo, A P M; Thompson, K; Riet-Correa, F

    2014-01-01

    This paper reports a newly described form of skeletal dysplasia affecting Brazilian hair sheep of the Cabugi breed. This breed is characterized by having a short head and in some cases the animals are smaller and more compact than sheep of similar breeds. Lambs born with craniofacial abnormalities and dwarfism that die at 2-6 months of age are frequent in this breed. In a flock of 68 ewes and three rams of the Cabugi breed, 134 lambs were born over a 4-year period. Of these, 14 (10.4%) had marked cranial abnormalities and dwarfism and died or were humanely destroyed, 43 (32%) had a normal face and 77 (57.5%) had the short face characteristic of the breed. Dwarf lambs were much smaller than normal, with short legs, a domed head with retruded muzzle and protruded mandible, sternal deformities and exophthalmic eyes situated more laterally in the face than normal. Microscopical examination of long bones of the limbs, bones of the base of the skull and vertebrae showed no lesions. Bones from four affected lambs and one control lamb were macerated for morphometric examination. Although the length of the spinal cord was similar, there was disproportionate shortening of the appendicular bones, particularly the distal segments. Thus the disease was defined as a skeletal dysplasia characterized by craniofacial deformity and disproportionate dwarfism. It is suggested that the disease is inherited as an incomplete dominant trait. The shortened face, which is a feature of the Cabugi breed, may represent the heterozygous state and the more severe, often lethal, dwarfism may occur in homozygotes. Copyright © 2013 Elsevier Ltd. All rights reserved.

  9. Increased intracellular proteolysis reduces disease severity in an ER stress–associated dwarfism

    OpenAIRE

    Mullan, Lorna; Mularczyk, Ewa; Kung, Louise; Forouhan, Mitra; Wragg, Jordan; Goodacre, Royston; Bateman, John F.; Swanton, Eileithyia; Briggs, Michael; Boot-Handford, Raymond

    2017-01-01

    The short-limbed dwarfism metaphyseal chondrodysplasia type Schmid (MCDS) is linked to mutations in type X collagen, which increase ER stress by inducing misfolding of the mutant protein and subsequently disrupting hypertrophic chondrocyte differentiation. Here, we show that carbamazepine (CBZ), an autophagy-stimulating drug that is clinically approved for the treatment of seizures and bipolar disease, reduced the ER stress induced by 4 different MCDS-causing mutant forms of collagen X in hum...

  10. A frameshift mutation in GON4L is associated with proportionate dwarfism in Fleckvieh cattle

    OpenAIRE

    Schwarzenbacher, Hermann; Wurmser, Christine M.; Flisikowski, Krzysztof; Misurova, Lubica; Jung, Simone; Langenmayer, Martin C.; Schnieke, Angelika; Knubben-Schweizer, Gabriela; Fries, Ruedi; Pausch, Hubert

    2016-01-01

    Background Low birth weight and postnatal growth restriction are the most evident symptoms of dwarfism. Accompanying skeletal aberrations may compromise the general condition and locomotion of affected individuals. Several paternal half-sibs with a low birth weight and a small size were born in 2013 in the Fleckvieh cattle population. Results Affected calves were strikingly underweight at birth in spite of a normal gestation length and had craniofacial abnormalities such as elongated narrow h...

  11. Astrochemistry: From primordial gas to present-day clouds

    OpenAIRE

    Schleicher, Dominik R. G.; Bovino, Stefano; Körtgen, Bastian; Grassi, Tommaso; Banerjee, Robi

    2017-01-01

    Astrochemistry plays a central role during the process of star formation, both in the primordial regime as well as in the present-day Universe. We revisit here the chemistry in both regimes, focusing first on the chemistry under close to primordial conditions, as observed in the so-called Caffau star SDSS J102915+172927, and subsequently discuss deuteration processes in present-day star-forming cores. In models of the high-redshift Universe, the chemistry is particularly relevant to determine...

  12. Chirality oscillation of primordial gravitational waves during inflation

    Energy Technology Data Exchange (ETDEWEB)

    Cai, Yong; Wang, Yu-Tong [School of Physics, University of Chinese Academy of Sciences,Beijing 100049 (China); Piao, Yun-Song [School of Physics, University of Chinese Academy of Sciences,Beijing 100049 (China); Institute of Theoretical Physics, Chinese Academy of Sciences,P.O. Box 2735, Beijing 100190 (China)

    2017-03-06

    We show that if the gravitational Chern-Simons term couples to a massive scalar field (m>H), the primordial gravitational waves (GWs) will show itself the chirality oscillation, i.e., the amplitudes of the left- and right-handed GWs modes will convert into each other and oscillate in their propagations. This oscillation will eventually develop a permanent difference of the amplitudes of both modes, which leads to nearly opposite oscillating shapes in the power spectra of the left- and right-handed primordial GWs. We discuss its implication to the CMB B-mode polarization.

  13. Primordial lithium and the standard model(s)

    International Nuclear Information System (INIS)

    Deliyannis, C.P.; Demarque, P.; Kawaler, S.D.; Krauss, L.M.; Romanelli, P.

    1989-01-01

    We present the results of new theoretical work on surface 7 Li and 6 Li evolution in the oldest halo stars along with a new and refined analysis of the predicted primordial lithium abundance resulting from big-bang nucleosynthesis. This allows us to determine the constraints which can be imposed upon cosmology by a consideration of primordial lithium using both standard big-bang and standard stellar-evolution models. Such considerations lead to a constraint on the baryon density today of 0.0044 2 <0.025 (where the Hubble constant is 100h Km sec/sup -1/ Mpc /sup -1/), and impose limitations on alternative nucleosynthesis scenarios

  14. Genome-wide SNP association-based localization of a dwarfism gene in Friesian dwarf horses.

    Science.gov (United States)

    Orr, N; Back, W; Gu, J; Leegwater, P; Govindarajan, P; Conroy, J; Ducro, B; Van Arendonk, J A M; MacHugh, D E; Ennis, S; Hill, E W; Brama, P A J

    2010-12-01

    The recent completion of the horse genome and commercial availability of an equine SNP genotyping array has facilitated the mapping of disease genes. We report putative localization of the gene responsible for dwarfism, a trait in Friesian horses that is thought to have a recessive mode of inheritance, to a 2-MB region of chromosome 14 using just 10 affected animals and 10 controls. We successfully genotyped 34,429 SNPs that were tested for association with dwarfism using chi-square tests. The most significant SNP in our study, BIEC2-239376 (P(2df)=4.54 × 10(-5), P(rec)=7.74 × 10(-6)), is located close to a gene implicated in human dwarfism. Fine-mapping and resequencing analyses did not aid in further localization of the causative variant, and replication of our findings in independent sample sets will be necessary to confirm these results. © 2010 The Authors, Journal compilation © 2010 Stichting International Foundation for Animal Genetics.

  15. Bulldog dwarfism in Dexter cattle is caused by mutations in ACAN.

    Science.gov (United States)

    Cavanagh, Julie A L; Tammen, Imke; Windsor, Peter A; Bateman, John F; Savarirayan, Ravi; Nicholas, Frank W; Raadsma, Herman W

    2007-11-01

    Bulldog dwarfism in Dexter cattle is one of the earliest single-locus disorders described in animals. Affected fetuses display extreme disproportionate dwarfism, reflecting abnormal cartilage development (chondrodysplasia). Typically, they die around the seventh month of gestation, precipitating a natural abortion. Heterozygotes show a milder form of dwarfism, most noticeably having shorter legs. Homozygosity mapping in candidate regions in a small Dexter pedigree suggested aggrecan (ACAN) as the most likely candidate gene. Mutation screening revealed a 4-bp insertion in exon 11 (2266_2267insGGCA) (called BD1 for diagnostic testing) and a second, rarer transition in exon 1 (-198C>T) (called BD2) that cosegregate with the disorder. In chondrocytes from cattle heterozygous for the insertion, mutant mRNA is subject to nonsense-mediated decay, showing only 8% of normal expression. Genotyping in Dexter families throughout the world shows a one-to-one correspondence between genotype and phenotype at this locus. The heterozygous and homozygous-affected Dexter cattle could prove invaluable as a model for human disorders caused by mutations in ACAN.

  16. Recurrent nonsense mutations in the growth hormone receptor from patients with Laron dwarfism.

    Science.gov (United States)

    Amselem, S; Sobrier, M L; Duquesnoy, P; Rappaport, R; Postel-Vinay, M C; Gourmelen, M; Dallapiccola, B; Goossens, M

    1991-01-01

    In addition to its classical effects on growth, growth hormone (GH) has been shown to have a number of other actions, all of which are initiated by an interaction with specific high affinity receptors present in a variety of tissues. Purification of a rabbit liver protein via its ability to bind GH has allowed the isolation of a cDNA encoding a putative human growth hormone receptor that belongs to a new class of transmembrane receptors. We have previously shown that this putative growth hormone receptor gene is genetically linked to Laron dwarfism, a rare autosomal recessive syndrome caused by target resistance to GH. Nevertheless, the inability to express the corresponding full-length coding sequence and the lack of a test for growth-promoting function have hampered a direct confirmation of its role in growth. We have now identified three nonsense mutations within this growth hormone receptor gene, lying at positions corresponding to the amino terminal extremity and causing a truncation of the molecule, thereby deleting a large portion of both the GH binding domain and the full transmembrane and intracellular domains. Three independent patients with Laron dwarfism born of consanguineous parents were homozygous for these defects. Two defects were identical and consisted of a CG to TG transition. Not only do these results confirm the growth-promoting activity of this receptor but they also suggest that CpG doublets may represent hot spots for mutations in the growth hormone receptor gene that are responsible for hereditary dwarfism. Images PMID:1999489

  17. Lateral retroperitoneal transpsoas interbody fusion in a patient with achondroplastic dwarfism.

    Science.gov (United States)

    Staub, Blake N; Holman, Paul J

    2015-02-01

    The authors present the first reported use of the lateral retroperitoneal transpsoas approach for interbody arthrodesis in a patient with achondroplastic dwarfism. The inherent anatomical abnormalities of the spine present in achondroplastic dwarfism predispose these patients to an increased incidence of spinal deformity as well as neurogenic claudication and potential radicular symptoms. The risks associated with prolonged general anesthesia and intolerance of significant blood loss in these patients makes them ideal candidates for minimally invasive spinal surgery. The patient in this case was a 51-year-old man with achondroplastic dwarfism who had a history of progressive claudication and radicular pain despite previous extensive lumbar laminectomies. The lateral retroperitoneal transpsoas approach was used for placement of interbody cages at L1/2, L2/3, L3/4, and L4/5, followed by posterior decompression and pedicle screw instrumentation. The patient tolerated the procedure well with no complications. Postoperatively his claudicatory and radicular symptoms resolved and a CT scan revealed solid arthrodesis with no periimplant lucencies.

  18. Molecular mechanisms governing primordial germ cell migration in zebrafish

    NARCIS (Netherlands)

    Doitsidou, M.

    2005-01-01

    In most sexually reproducing organisms primordial germ cells (pGCs) are specified early in development in places that are distinct from the region where the somatic part of the gonad develops. From their places of specification they have to migrate towards the site where they associate with somatic

  19. Primordial germ cells and amnion development in the avian embryo

    NARCIS (Netherlands)

    De Melo Bernardo, Ana

    2016-01-01

    Primordial germ cells (PGCs) are the progenitors of the gametes, responsible for transmitting genetic information from generation to generation. Although there is a long history of gamete biology research, there is still a lot to be learned about many of the mechanisms underlying germ cell

  20. Lifting Primordial Non-Gaussianity Above the Noise

    NARCIS (Netherlands)

    Welling, Yvette; Woude, Drian van der; Pajer, Enrico

    2016-01-01

    Primordial non-Gaussianity (PNG) in Large Scale Structures is obfuscated by the many additional sources of non-linearity. Within the Effective Field Theory approach to Standard Perturbation Theory, we show that matter non-linearities in the bispectrum can be modeled sufficiently well to strengthen

  1. Rewarming the Primordial Soup: Revisitations and Rediscoveries in Prebiotic Chemistry.

    Science.gov (United States)

    Saladino, Raffaele; Šponer, Judit E; Šponer, Jiří; Di Mauro, Ernesto

    2018-01-04

    A short history of Campbell's primordial soup: In this essay we try to disclose some of the historical connections between the studies that have contributed to our current understanding of the emergence of catalytic RNA molecules and their components from an inanimate matter. © 2017 The Authors. Published by Wiley-VCH Verlag GmbH & Co. KGaA.

  2. Planck 2013 Results. XXIV. Constraints on primordial non-Gaussianity

    DEFF Research Database (Denmark)

    Ade, P. A. R.; Aghanim, N.; Armitage-Caplan, C.

    2013-01-01

    The Planck nominal mission cosmic microwave background (CMB) maps yield unprecedented constraints on primordial non-Gaussianity (NG).Using three optimal bispectrum estimators, separable template-fitting (KSW), binned, and modal, we obtain consistent values for the primordiallocal, equilateral, an...

  3. Cosmic microwave background trispectrum and primordial magnetic field limits.

    Science.gov (United States)

    Trivedi, Pranjal; Seshadri, T R; Subramanian, Kandaswamy

    2012-06-08

    Primordial magnetic fields will generate non-gaussian signals in the cosmic microwave background (CMB) as magnetic stresses and the temperature anisotropy they induce depend quadratically on the magnetic field. We compute a new measure of magnetic non-gaussianity, the CMB trispectrum, on large angular scales, sourced via the Sachs-Wolfe effect. The trispectra induced by magnetic energy density and by magnetic scalar anisotropic stress are found to have typical magnitudes of approximately a few times 10(-29) and 10(-19), respectively. Observational limits on CMB non-gaussianity from WMAP data allow us to conservatively set upper limits of a nG, and plausibly sub-nG, on the present value of the primordial cosmic magnetic field. This represents the tightest limit so far on the strength of primordial magnetic fields, on Mpc scales, and is better than limits from the CMB bispectrum and all modes in the CMB power spectrum. Thus, the CMB trispectrum is a new and more sensitive probe of primordial magnetic fields on large scales.

  4. Chameleon-photon mixing in a primordial magnetic field

    International Nuclear Information System (INIS)

    Schelpe, Camilla A. O.

    2010-01-01

    The existence of a sizable, O(10 -10 -10 -9 G), cosmological magnetic field in the early Universe has been postulated as a necessary step in certain formation scenarios for the large-scale O(μG) magnetic fields found in galaxies and galaxy clusters. If this field exists then it may induce significant mixing between photons and axion-like particles (ALPs) in the early Universe. The resonant conversion of photons into ALPs in a primordial magnetic field has been studied elsewhere by Mirizzi, Redondo and Sigl (2009). Here we consider the nonresonant mixing between photons and scalar ALPs with masses much less than the plasma frequency along the path, with specific reference to the chameleon scalar field model. The mixing would alter the intensity and polarization state of the cosmic microwave background (CMB) radiation. We find that the average modification to the CMB polarization modes is negligible. However the average modification to the CMB intensity spectrum is more significant and we compare this to high-precision measurements of the CMB monopole made by the far infrared absolute spectrophotometer on board the COBE satellite. The resulting 95% confidence limit on the scalar-photon conversion probability in the primordial field (at 100 GHz) is P γ↔φ -2 . This corresponds to a degenerate constraint on the photon-scalar coupling strength, g eff , and the magnitude of the primordial magnetic field. Taking the upper bound on the strength of the primordial magnetic field derived from the CMB power spectra, B λ ≤5.0x10 -9 G, this would imply an upper bound on the photon-scalar coupling strength in the range g eff -13 GeV -1 to g eff -14 GeV -1 , depending on the power spectrum of the primordial magnetic field.

  5. Selections from 2016: Primordial Black Holes as Dark Matter

    Science.gov (United States)

    Kohler, Susanna

    2016-12-01

    Editors note:In these last two weeks of 2016, well be looking at a few selections that we havent yet discussed on AAS Nova from among the most-downloaded paperspublished in AAS journals this year. The usual posting schedule will resume after the AAS winter meeting.LIGO Gravitational Wave Detection, Primordial Black Holes, and the Near-IR Cosmic Infrared Background AnisotropiesPublished May2016Main takeaway:A study by Alexander Kashlinsky (NASA Goddard SFC) proposes that the cold dark matter that makes up the majority of the universes matter may be made of black holes. These black holes, Kashlinsky suggests, are primordial: they collapsed directly from dense regions of the universe soon after the Big Bang.Why its interesting:This model would simultaneously explain several observations. In particular, we see similarities in patterns between the cosmic infrared and X-ray backgrounds. This would make sense if accretion onto primordial black holes in halos produced the X-ray background in the same regions where the first stars also formed, producing the infrared background.What this means for current events:In Kashlinskys model, primordial black holes would occasionally form binary pairs and eventually spiral in and merge. The release of energy from such an event would then be observable by gravitational-wave detectors. Could the gravitational-wave signal that LIGO detected last year have been two primordial black holes merging? More observations will be needed to find out.CitationA. Kashlinsky 2016 ApJL 823 L25. doi:10.3847/2041-8205/823/2/L25

  6. Dwarfism of blue mussels in the low saline Baltic Sea — growth to the lower salinity limit

    DEFF Research Database (Denmark)

    Riisgård, Hans Ulrik; Larsen, Poul Scheel; Turja, Raisa

    2014-01-01

    Mussels within the Baltic Mytilus edulis × M. trossulus hybrid zone have adapted to the low salinities in the Baltic Sea which, however, results in slow-growing dwarfed mussels. To get a better understanding of the nature of dwarfism, we studied the ability of M. trossulus to feed and grow at low...... to become negative below 4.5 psu. We suggest that reduced ability to produce shell material at extremely low salinity may explain dwarfism of mussels in the Baltic Sea. Reduced bio-calcification at low salinity, however, may impede shell growth, but not somatic growth, and this may at first result...

  7. MORPHO‐FUNCTIONAL RE‐ESTABLISHMENT OF CRANIO‐FACIAL GROWTH DISORDERS IN PITUITARY DWARFISM BY RHGH THERAPY

    OpenAIRE

    Adriana BĂLAN; Marinela PĂSĂREANU; Vasilica TOMA; Irina Nicoleta ZETU

    2013-01-01

    The present study evaluates the cranio‐facial growth disorders in a series of patients suffering from pituitary dwarfism, as a result of the therapy with recombinant human growth hormone (rhGH). Included in the study were 15 children diagnosed with pituitary dwarfism in the Endocrinology Clinics of the ”Sf. Spiridon” Hospital of Iasi, subjected to a treatment with rhGH for 2 years. After the application of the therapy, the parameters of general physical development were followed and the denta...

  8. Complete genome sequence of a new enamovirus from Argentina infecting alfalfa plants showing dwarfism symptoms.

    Science.gov (United States)

    Bejerman, Nicolás; Giolitti, Fabián; Trucco, Verónica; de Breuil, Soledad; Dietzgen, Ralf G; Lenardon, Sergio

    2016-07-01

    Alfalfa dwarf disease, probably caused by synergistic interactions of mixed virus infections, is a major and emergent disease that threatens alfalfa production in Argentina. Deep sequencing of diseased alfalfa plant samples from the central region of Argentina resulted in the identification of a new virus genome resembling enamoviruses in sequence and genome structure. Phylogenetic analysis suggests that it is a new member of the genus Enamovirus, family Luteoviridae. The virus is tentatively named "alfalfa enamovirus 1" (AEV-1). The availability of the AEV-1 genome sequence will make it possible to assess the genetic variability of this virus and to construct an infectious clone to investigate its role in alfalfa dwarfism disease.

  9. Primordial statistical anisotropy generated at the end of inflation

    International Nuclear Information System (INIS)

    Yokoyama, Shuichiro; Soda, Jiro

    2008-01-01

    We present a new mechanism for generating primordial statistical anisotropy of curvature perturbations. We introduce a vector field which has a non-minimal kinetic term and couples with a waterfall field in a hybrid inflation model. In such a system, the vector field gives fluctuations of the end of inflation and hence induces a subcomponent of curvature perturbations. Since the vector has a preferred direction, the statistical anisotropy could appear in the fluctuations. We present the explicit formula for the statistical anisotropy in the primordial power spectrum and the bispectrum of curvature perturbations. Interestingly, there is the possibility that the statistical anisotropy does not appear in the power spectrum but does appear in the bispectrum. We also find that the statistical anisotropy provides the shape dependence to the bispectrum

  10. Primordial statistical anisotropy generated at the end of inflation

    Energy Technology Data Exchange (ETDEWEB)

    Yokoyama, Shuichiro [Department of Physics and Astrophysics, Nagoya University, Aichi 464-8602 (Japan); Soda, Jiro, E-mail: shu@a.phys.nagoya-u.ac.jp, E-mail: jiro@tap.scphys.kyoto-u.ac.jp [Department of Physics, Kyoto University, Kyoto 606-8501 (Japan)

    2008-08-15

    We present a new mechanism for generating primordial statistical anisotropy of curvature perturbations. We introduce a vector field which has a non-minimal kinetic term and couples with a waterfall field in a hybrid inflation model. In such a system, the vector field gives fluctuations of the end of inflation and hence induces a subcomponent of curvature perturbations. Since the vector has a preferred direction, the statistical anisotropy could appear in the fluctuations. We present the explicit formula for the statistical anisotropy in the primordial power spectrum and the bispectrum of curvature perturbations. Interestingly, there is the possibility that the statistical anisotropy does not appear in the power spectrum but does appear in the bispectrum. We also find that the statistical anisotropy provides the shape dependence to the bispectrum.

  11. Constraints on amplitudes of curvature perturbations from primordial black holes

    International Nuclear Information System (INIS)

    Bugaev, Edgar; Klimai, Peter

    2009-01-01

    We calculate the primordial black hole (PBH) mass spectrum produced from a collapse of the primordial density fluctuations in the early Universe using, as an input, several theoretical models giving the curvature perturbation power spectra P R (k) with large (∼10 -2 -10 -1 ) values at some scale of comoving wave numbers k. In the calculation we take into account the explicit dependence of gravitational (Bardeen) potential on time. Using the PBH mass spectra, we further calculate the neutrino and photon energy spectra in extragalactic space from evaporation of light PBHs, and the energy density fraction contained in PBHs today (for heavier PBHs). We obtain the constraints on the model parameters using available experimental data (including data on neutrino and photon cosmic backgrounds). We briefly discuss the possibility that the observed 511 keV line from the Galactic center is produced by annihilation of positrons evaporated by PBHs.

  12. Primordial helium abundance determination using sulphur as metallicity tracer

    Science.gov (United States)

    Fernández, Vital; Terlevich, Elena; Díaz, Angeles I.; Terlevich, Roberto; Rosales-Ortega, F. F.

    2018-05-01

    The primordial helium abundance YP is calculated using sulphur as metallicity tracer in the classical methodology (with YP as an extrapolation of Y to zero metals). The calculated value, YP, S = 0.244 ± 0.006, is in good agreement with the estimate from the Planck experiment, as well as, determinations in the literature using oxygen as the metallicity tracer. The chemical analysis includes the sustraction of the nebular continuum and of the stellar continuum computed from simple stellar population synthesis grids. The S+2 content is measured from the near infrared [SIII]λλ9069Å, 9532Å lines, while an ICF(S3 +) is proposed based on the Ar3 +/Ar2 + fraction. Finally, we apply a multivariable linear regression using simultaneously oxygen, nitrogen and sulphur abundances for the same sample to determine the primordial helium abundance resulting in YP - O, N, S = 0.245 ± 0.007.

  13. Cosmological lepton asymmetry, primordial nucleosynthesis and sterile neutrinos

    Science.gov (United States)

    Abazajian, Kevork; Bell, Nicole F.; Fuller, George M.; Wong, Yvonne Y. Y.

    2005-09-01

    We study post weak decoupling coherent active-sterile and active-active matter-enhanced neutrino flavor transformation in the early Universe. We show that flavor conversion efficiency at Mikheyev-Smirnov-Wolfenstein resonances is likely to be high (adiabatic evolution) for relevant neutrino parameters and energies. However, we point out that these resonances cannot sweep smoothly and continuously with the expansion of the Universe. We show how neutrino flavor conversion in this way can leave both the active and sterile neutrinos with nonthermal energy spectra, and how, in turn, these distorted energy spectra can affect the neutron-to-proton ratio, primordial nucleosynthesis, and cosmological mass/closure constraints on sterile neutrinos. We demonstrate that the existence of a light sterile neutrino which mixes with active neutrinos can change fundamentally the relationship between the cosmological lepton numbers and the primordial nucleosynthesis He4 yield.

  14. Inflation, Reionization, and All That: The Primordial Inflation Explorer

    Science.gov (United States)

    Kogut, Alan J.

    2012-01-01

    The Primordial Inflation Explorer is an Explorer-class mission to measure the gravity-wave signature of primordial inflation through its distinctive imprint on the linear polarization of the cosmic microwave background. PIXIE uses an innovative optical design to achieve background-limited sensitivity in 400 spectral channels spanning 2.5 decades in frequency from 30 GHz to 6 THz (1 cm to 50 micron wavelength). The principal science goal is the detection and characterization of linear polarization from an inflationary epoch in the early universe, with tensor-to-scalar ratio r < 10(exp -3) at 5 standard deviations. The rich PIXIE data set will also constrain physical processes ranging from Big Bang cosmology to the nature of the first stars to physical conditions within the interstellar medium of the Galaxy. I describe the PIXIE instrument and mission architecture needed to detect the inflationary signature using only 4 semiconductor bolometers.

  15. Testing the Standard Model with the Primordial Inflation Explorer

    Science.gov (United States)

    Kogut, Alan J.

    2011-01-01

    The Primordial Inflation Explorer is an Explorer-class mission to measure the gravity-wave signature of primordial inflation through its distinctive imprint on the linear polarization of the cosmic microwave background. PIXIE uses an innovative optical design to achieve background-limited sensitivity in 400 spectral channels spanning 2.5 decades in frequency from 30 GHz to 6 THz (1 cm to 50 micron wavelength). The principal science goal is the detection and characterization of linear polarization from an inflationary epoch in the early universe, with tensor-to-scalar ratio r < 10A{-3) at 5 standard deviations. The rich PIXIE data set will also constrain physical processes ranging from Big Bang cosmology to the nature of the first stars to physical conditions within the interstellar medium of the Galaxy. I describe the PIXIE instrument and mission architecture needed to detect the inflationary signature using only 4 semiconductor bolometers.

  16. On the evolution of the primordial cosmic turbulence

    International Nuclear Information System (INIS)

    Tanabe, Kenji.

    1980-09-01

    The evolution of the primordial cosmic turbulence in the big-bang universe is studied by numerical integration of the spectral equation derived by Nariai and closed by Heisenberg's hypothesis. In order to examine whether the turbulence can survive by the epoch of the plasma recombination, the equation is dealt with by taking full account of the viscosity effect. The main conclusion is that the resulting spectrum survived against the viscous decay depends on the initial spectral shape which is assumed at the epoch t sub(eq) when the density of matter is equal to that of radiation. The Taylor's micro-scale is also calculated which is available to determine the fate of the primordial cosmic turbulence. (author)

  17. Primordial non-Gaussian features from DBI Galileon inflation

    International Nuclear Information System (INIS)

    Choudhury, Sayantan; Pal, Supratik

    2015-01-01

    We have studied primordial non-Gaussian features of a model of potential-driven single field DBI Galileon inflation. We have computed the bispectrum from the three-point correlation function considering all possible cross correlations between the scalar and tensor modes of the proposed setup. Further, we have computed the trispectrum from a four-point correlation function considering the contribution from contact interaction, and scalar and graviton exchange diagrams in the in-in picture. Finally we have obtained the non-Gaussian consistency conditions from the four-point correlator, which results in partial violation of the Suyama-Yamaguchi four-point consistency relation. This further leads to the conclusion that sufficient primordial non-Gaussianities can be obtained from DBI Galileon inflation. (orig.)

  18. Primordial Regular Black Holes: Thermodynamics and Dark Matter

    Directory of Open Access Journals (Sweden)

    José Antonio de Freitas Pacheco

    2018-05-01

    Full Text Available The possibility that dark matter particles could be constituted by extreme regular primordial black holes is discussed. Extreme black holes have zero surface temperature, and are not subjected to the Hawking evaporation process. Assuming that the common horizon radius of these black holes is fixed by the minimum distance that is derived from the Riemann invariant computed from loop quantum gravity, the masses of these non-singular stable black holes are of the order of the Planck mass. However, if they are formed just after inflation, during reheating, their initial masses are about six orders of magnitude higher. After a short period of growth by the accretion of relativistic matter, they evaporate until reaching the extreme solution. Only a fraction of 3.8 × 10−22 of relativistic matter is required to be converted into primordial black holes (PBHs in order to explain the present abundance of dark matter particles.

  19. Primordial large-scale electromagnetic fields from gravitoelectromagnetic inflation

    Energy Technology Data Exchange (ETDEWEB)

    Membiela, Federico Agustin [Departamento de Fisica, Facultad de Ciencias Exactas y Naturales, Universidad Nacional de Mar del Plata, Funes 3350, (7600) Mar del Plata (Argentina); Consejo Nacional de Investigaciones Cientificas y Tecnicas (CONICET) (Argentina)], E-mail: membiela@mdp.edu.ar; Bellini, Mauricio [Departamento de Fisica, Facultad de Ciencias Exactas y Naturales, Universidad Nacional de Mar del Plata, Funes 3350, (7600) Mar del Plata (Argentina); Consejo Nacional de Investigaciones Cientificas y Tecnicas (CONICET) (Argentina)], E-mail: mbellini@mdp.edu.ar

    2009-04-20

    We investigate the origin and evolution of primordial electric and magnetic fields in the early universe, when the expansion is governed by a cosmological constant {lambda}{sub 0}. Using the gravitoelectromagnetic inflationary formalism with A{sub 0}=0, we obtain the power of spectrums for large-scale magnetic fields and the inflaton field fluctuations during inflation. A very important fact is that our formalism is naturally non-conformally invariant.

  20. Primordial large-scale electromagnetic fields from gravitoelectromagnetic inflation

    Science.gov (United States)

    Membiela, Federico Agustín; Bellini, Mauricio

    2009-04-01

    We investigate the origin and evolution of primordial electric and magnetic fields in the early universe, when the expansion is governed by a cosmological constant Λ0. Using the gravitoelectromagnetic inflationary formalism with A0 = 0, we obtain the power of spectrums for large-scale magnetic fields and the inflaton field fluctuations during inflation. A very important fact is that our formalism is naturally non-conformally invariant.

  1. Primordial large-scale electromagnetic fields from gravitoelectromagnetic inflation

    International Nuclear Information System (INIS)

    Membiela, Federico Agustin; Bellini, Mauricio

    2009-01-01

    We investigate the origin and evolution of primordial electric and magnetic fields in the early universe, when the expansion is governed by a cosmological constant Λ 0 . Using the gravitoelectromagnetic inflationary formalism with A 0 =0, we obtain the power of spectrums for large-scale magnetic fields and the inflaton field fluctuations during inflation. A very important fact is that our formalism is naturally non-conformally invariant.

  2. Tracing primordial black holes in nonsingular bouncing cosmology

    Energy Technology Data Exchange (ETDEWEB)

    Chen, Jie-Wen, E-mail: chjw@mail.ustc.edu.cn [CAS Key Laboratory for Researches in Galaxies and Cosmology, Department of Astronomy, University of Science and Technology of China, Hefei, Anhui 230026 (China); Liu, Junyu, E-mail: junyu@mail.ustc.edu.cn [CAS Key Laboratory for Researches in Galaxies and Cosmology, Department of Astronomy, University of Science and Technology of China, Hefei, Anhui 230026 (China); Department of Physics, California Institute of Technology, Pasadena, California 91125 (United States); Xu, Hao-Lan, E-mail: xhl1995@mail.ustc.edu.cn [CAS Key Laboratory for Researches in Galaxies and Cosmology, Department of Astronomy, University of Science and Technology of China, Hefei, Anhui 230026 (China); Institut d' Astrophysique de Paris, UMR 7095-CNRS, Université Pierre et Marie Curie, 98 bis boulevard Arago, 75014 Paris (France); Cai, Yi-Fu, E-mail: yifucai@ustc.edu.cn [CAS Key Laboratory for Researches in Galaxies and Cosmology, Department of Astronomy, University of Science and Technology of China, Hefei, Anhui 230026 (China)

    2017-06-10

    We in this paper investigate the formation and evolution of primordial black holes (PBHs) in nonsingular bouncing cosmologies. We discuss the formation of PBH in the contracting phase and calculate the PBH abundance as a function of the sound speed and Hubble parameter. Afterwards, by taking into account the subsequent PBH evolution during the bouncing phase, we derive the density of PBHs and their Hawking radiation. Our analysis shows that nonsingular bounce models can be constrained from the backreaction of PBHs.

  3. Dark energy and dark matter from primordial QGP

    Energy Technology Data Exchange (ETDEWEB)

    Vaidya, Vaishali, E-mail: vaidvavaishali24@gmail.com; Upadhyaya, G. K., E-mail: gopalujiain@yahoo.co.in [School of Studies in Physics, Vikram University Ujjain (India)

    2015-07-31

    Coloured relics servived after hadronization might have given birth to dark matter and dark energy. Theoretical ideas to solve mystery of cosmic acceleration, its origin and its status with reference to recent past are of much interest and are being proposed by many workers. In the present paper, we present a critical review of work done to understand the earliest appearance of dark matter and dark energy in the scenario of primordial quark gluon plasma (QGP) phase after Big Bang.

  4. Calculating the mass fraction of primordial black holes

    Energy Technology Data Exchange (ETDEWEB)

    Young, Sam; Byrnes, Christian T. [Department of Physics and Astronomy, University of Sussex, North-South Road, Brighton (United Kingdom); Sasaki, Misao, E-mail: sy81@sussex.ac.uk, E-mail: ctb22@sussex.ac.uk, E-mail: misao@yukawa.kyoto-u.ac.jp [Yukawa Institute for Theoretical Physics, Kyoto University, Kyoto 606-8502 (Japan)

    2014-07-01

    We reinspect the calculation for the mass fraction of primordial black holes (PBHs) which are formed from primordial perturbations, finding that performing the calculation using the comoving curvature perturbation R{sub c} in the standard way vastly overestimates the number of PBHs, by many orders of magnitude. This is because PBHs form shortly after horizon entry, meaning modes significantly larger than the PBH are unobservable and should not affect whether a PBH forms or not—this important effect is not taken into account by smoothing the distribution in the standard fashion. We discuss alternative methods and argue that the density contrast, Δ, should be used instead as super-horizon modes are damped by a factor k{sup 2}. We make a comparison between using a Press-Schechter approach and peaks theory, finding that the two are in close agreement in the region of interest. We also investigate the effect of varying the spectral index, and the running of the spectral index, on the abundance of primordial black holes.

  5. Calculating the mass fraction of primordial black holes

    International Nuclear Information System (INIS)

    Young, Sam; Byrnes, Christian T.; Sasaki, Misao

    2014-01-01

    We reinspect the calculation for the mass fraction of primordial black holes (PBHs) which are formed from primordial perturbations, finding that performing the calculation using the comoving curvature perturbation R c in the standard way vastly overestimates the number of PBHs, by many orders of magnitude. This is because PBHs form shortly after horizon entry, meaning modes significantly larger than the PBH are unobservable and should not affect whether a PBH forms or not—this important effect is not taken into account by smoothing the distribution in the standard fashion. We discuss alternative methods and argue that the density contrast, Δ, should be used instead as super-horizon modes are damped by a factor k 2 . We make a comparison between using a Press-Schechter approach and peaks theory, finding that the two are in close agreement in the region of interest. We also investigate the effect of varying the spectral index, and the running of the spectral index, on the abundance of primordial black holes

  6. Assumptions of the primordial spectrum and cosmological parameter estimation

    International Nuclear Information System (INIS)

    Shafieloo, Arman; Souradeep, Tarun

    2011-01-01

    The observables of the perturbed universe, cosmic microwave background (CMB) anisotropy and large structures depend on a set of cosmological parameters, as well as the assumed nature of primordial perturbations. In particular, the shape of the primordial power spectrum (PPS) is, at best, a well-motivated assumption. It is known that the assumed functional form of the PPS in cosmological parameter estimation can affect the best-fit-parameters and their relative confidence limits. In this paper, we demonstrate that a specific assumed form actually drives the best-fit parameters into distinct basins of likelihood in the space of cosmological parameters where the likelihood resists improvement via modifications to the PPS. The regions where considerably better likelihoods are obtained allowing free-form PPS lie outside these basins. In the absence of a preferred model of inflation, this raises a concern that current cosmological parameter estimates are strongly prejudiced by the assumed form of PPS. Our results strongly motivate approaches toward simultaneous estimation of the cosmological parameters and the shape of the primordial spectrum from upcoming cosmological data. It is equally important for theorists to keep an open mind towards early universe scenarios that produce features in the PPS. (paper)

  7. Galaxy bispectrum, primordial non-Gaussianity and redshift space distortions

    Energy Technology Data Exchange (ETDEWEB)

    Tellarini, Matteo; Ross, Ashley J.; Wands, David [Institute of Cosmology and Gravitation, University of Portsmouth, Dennis Sciama Building, Portsmouth, PO1 3FX (United Kingdom); Tasinato, Gianmassimo, E-mail: matteo.tellarini@port.ac.uk, E-mail: ross.1333@osu.edu, E-mail: g.tasinato@swansea.ac.uk, E-mail: david.wands@port.ac.uk [Department of Physics, Swansea University, Singleton Park, Swansea, SA2 8PP (United Kingdom)

    2016-06-01

    Measurements of the non-Gaussianity of the primordial density field have the power to considerably improve our understanding of the physics of inflation. Indeed, if we can increase the precision of current measurements by an order of magnitude, a null-detection would rule out many classes of scenarios for generating primordial fluctuations. Large-scale galaxy redshift surveys represent experiments that hold the promise to realise this goal. Thus, we model the galaxy bispectrum and forecast the accuracy with which it will probe the parameter f {sub NL}, which represents the degree of primordial local-type non Gaussianity. Specifically, we address the problem of modelling redshift space distortions (RSD) in the tree-level galaxy bispectrum including f {sub NL}. We find novel contributions associated with RSD, with the characteristic large scale amplification induced by local-type non-Gaussianity. These RSD effects must be properly accounted for in order to obtain un-biased measurements of f {sub NL} from the galaxy bispectrum. We propose an analytic template for the monopole which can be used to fit against data on large scales, extending models used in the recent measurements. Finally, we perform idealised forecasts on σ {sub f} {sub N{sub L}}—the accuracy of the determination of local non-linear parameter f {sub NL}—from measurements of the galaxy bispectrum. Our findings suggest that current surveys can in principle provide f {sub NL} constraints competitive with Planck , and future surveys could improve them further.

  8. Galaxy bispectrum, primordial non-Gaussianity and redshift space distortions

    International Nuclear Information System (INIS)

    Tellarini, Matteo; Ross, Ashley J.; Wands, David; Tasinato, Gianmassimo

    2016-01-01

    Measurements of the non-Gaussianity of the primordial density field have the power to considerably improve our understanding of the physics of inflation. Indeed, if we can increase the precision of current measurements by an order of magnitude, a null-detection would rule out many classes of scenarios for generating primordial fluctuations. Large-scale galaxy redshift surveys represent experiments that hold the promise to realise this goal. Thus, we model the galaxy bispectrum and forecast the accuracy with which it will probe the parameter f NL , which represents the degree of primordial local-type non Gaussianity. Specifically, we address the problem of modelling redshift space distortions (RSD) in the tree-level galaxy bispectrum including f NL . We find novel contributions associated with RSD, with the characteristic large scale amplification induced by local-type non-Gaussianity. These RSD effects must be properly accounted for in order to obtain un-biased measurements of f NL from the galaxy bispectrum. We propose an analytic template for the monopole which can be used to fit against data on large scales, extending models used in the recent measurements. Finally, we perform idealised forecasts on σ f NL —the accuracy of the determination of local non-linear parameter f NL —from measurements of the galaxy bispectrum. Our findings suggest that current surveys can in principle provide f NL constraints competitive with Planck , and future surveys could improve them further.

  9. Quantum inflaton, primordial metric perturbations and CMB fluctuations

    International Nuclear Information System (INIS)

    Cao, F J

    2007-01-01

    We compute the primordial scalar, vector and tensor metric perturbations arising from quantum field inflation. Quantum field inflation takes into account the nonperturbative quantum dynamics of the inflaton consistently coupled to the dynamics of the (classical) cosmological metric. For chaotic inflation, the quantum treatment avoids the unnatural requirements of an initial state with all the energy in the zero mode. For new inflation it allows a consistent treatment of the explosive particle production due to spinodal instabilities. Quantum field inflation (under conditions that are the quantum analog of slow roll) leads, upon evolution, to the formation of a condensate starting a regime of effective classical inflation. We compute the primordial perturbations taking the dominant quantum effects into account. The results for the scalar, vector and tensor primordial perturbations are expressed in terms of the classical inflation results. For a N-component field in a O(N) symmetric model, adiabatic fluctuations dominate while isocurvature or entropy fluctuations are negligible. The results agree with the current WMAP observations and predict corrections to the power spectrum in classical inflation. Such corrections are estimated to be of the order of m 2 /[NH 2 ] where m is the inflaton mass and H the Hubble constant at horizon crossing. This turns to be about 4% for the cosmologically relevant scales. This quantum field treatment of inflation provides the foundations to the classical inflation and permits to compute quantum corrections to it

  10. Reconstructing the size distribution of the primordial Main Belt

    Science.gov (United States)

    Tsirvoulis, G.; Morbidelli, A.; Delbo, M.; Tsiganis, K.

    2018-04-01

    In this work we aim to constrain the slope of the size distribution of main-belt asteroids, at their primordial state. To do so we turn out attention to the part of the main asteroid belt between 2.82 and 2.96 AU, the so-called "pristine zone", which has a low number density of asteroids and few, well separated asteroid families. Exploiting these unique characteristics, and using a modified version of the hierarchical clustering method we are able to remove the majority of asteroid family members from the region. The remaining, background asteroids should be of primordial origin, as the strong 5/2 and 7/3 mean-motion resonances with Jupiter inhibit transfer of asteroids to and from the neighboring regions. The size-frequency distribution of asteroids in the size range 17 size distribution slope q = - 1.43 . In addition, applying the same 'family extraction' method to the neighboring regions, i.e. the middle and outer belts, and comparing the size distributions of the respective background populations, we find statistical evidence that no large asteroid families of primordial origin had formed in the middle or pristine zones.

  11. Inherited neurovascular diseases affecting cerebral blood vessels and smooth muscle.

    Science.gov (United States)

    Sam, Christine; Li, Fei-Feng; Liu, Shu-Lin

    2015-10-01

    Neurovascular diseases are among the leading causes of mortality and permanent disability due to stroke, aneurysm, and other cardiovascular complications. Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and Marfan syndrome are two neurovascular disorders that affect smooth muscle cells through accumulation of granule and osmiophilic materials and defective elastic fiber formations respectively. Moyamoya disease, hereditary hemorrhagic telangiectasia (HHT), microcephalic osteodysplastic primordial dwarfism type II (MOPD II), and Fabry's disease are disorders that affect the endothelium cells of blood vessels through occlusion or abnormal development. While much research has been done on mapping out mutations in these diseases, the exact mechanisms are still largely unknown. This paper briefly introduces the pathogenesis, genetics, clinical symptoms, and current methods of treatment of the diseases in the hope that it can help us better understand the mechanism of these diseases and work on ways to develop better diagnosis and treatment.

  12. A COL11A2 mutation in Labrador retrievers with mild disproportionate dwarfism.

    Directory of Open Access Journals (Sweden)

    Mirjam Frischknecht

    Full Text Available We describe a mild form of disproportionate dwarfism in Labrador Retrievers, which is not associated with any obvious health problems such as secondary arthrosis. We designate this phenotype as skeletal dysplasia 2 (SD2. It is inherited as a monogenic autosomal recessive trait with incomplete penetrance primarily in working lines of the Labrador Retriever breed. Using 23 cases and 37 controls we mapped the causative mutation by genome-wide association and homozygosity mapping to a 4.44 Mb interval on chromosome 12. We re-sequenced the genome of one affected dog at 30x coverage and detected 92 non-synonymous variants in the critical interval. Only two of these variants, located in the lymphotoxin A (LTA and collagen alpha-2(XI chain gene (COL11A2, respectively, were perfectly associated with the trait. Previously described COL11A2 variants in humans or mice lead to skeletal dysplasias and/or deafness. The dog variant associated with disproportionate dwarfism, COL11A2:c.143G>C or p.R48P, probably has only a minor effect on collagen XI function, which might explain the comparatively mild phenotype seen in our study. The identification of this candidate causative mutation thus widens the known phenotypic spectrum of COL11A2 mutations. We speculate that non-pathogenic COL11A2 variants might even contribute to the heritable variation in height.

  13. Phylogeographic and population genetic analyses reveal multiple species of Boa and independent origins of insular dwarfism.

    Science.gov (United States)

    Card, Daren C; Schield, Drew R; Adams, Richard H; Corbin, Andrew B; Perry, Blair W; Andrew, Audra L; Pasquesi, Giulia I M; Smith, Eric N; Jezkova, Tereza; Boback, Scott M; Booth, Warren; Castoe, Todd A

    2016-09-01

    Boa is a Neotropical genus of snakes historically recognized as monotypic despite its expansive distribution. The distinct morphological traits and color patterns exhibited by these snakes, together with the wide diversity of ecosystems they inhabit, collectively suggest that the genus may represent multiple species. Morphological variation within Boa also includes instances of dwarfism observed in multiple offshore island populations. Despite this substantial diversity, the systematics of the genus Boa has received little attention until very recently. In this study we examined the genetic structure and phylogenetic relationships of Boa populations using mitochondrial sequences and genome-wide SNP data obtained from RADseq. We analyzed these data at multiple geographic scales using a combination of phylogenetic inference (including coalescent-based species delimitation) and population genetic analyses. We identified extensive population structure across the range of the genus Boa and multiple lines of evidence for three widely-distributed clades roughly corresponding with the three primary land masses of the Western Hemisphere. We also find both mitochondrial and nuclear support for independent origins and parallel evolution of dwarfism on offshore island clusters in Belize and Cayos Cochinos Menor, Honduras. Copyright © 2016 Elsevier Inc. All rights reserved.

  14. Dwarfism and early death in mice lacking C-type natriuretic peptide

    Science.gov (United States)

    Chusho, Hideki; Tamura, Naohisa; Ogawa, Yoshihiro; Yasoda, Akihiro; Suda, Michio; Miyazawa, Takashi; Nakamura, Kenji; Nakao, Kazuki; Kurihara, Tatsuya; Komatsu, Yasato; Itoh, Hiroshi; Tanaka, Kiyoshi; Saito, Yoshihiko; Katsuki, Motoya; Nakao, Kazuwa

    2001-01-01

    Longitudinal bone growth is determined by endochondral ossification that occurs as chondrocytes in the cartilaginous growth plate undergo proliferation, hypertrophy, cell death, and osteoblastic replacement. The natriuretic peptide family consists of three structurally related endogenous ligands, atrial, brain, and C-type natriuretic peptides (ANP, BNP, and CNP), and is thought to be involved in a variety of homeostatic processes. To investigate the physiological significance of CNP in vivo, we generated mice with targeted disruption of CNP (Nppc−/− mice). The Nppc−/− mice show severe dwarfism as a result of impaired endochondral ossification. They are all viable perinatally, but less than half can survive during postnatal development. The skeletal phenotypes are histologically similar to those seen in patients with achondroplasia, the most common genetic form of human dwarfism. Targeted expression of CNP in the growth plate chondrocytes can rescue the skeletal defect of Nppc−/− mice and allow their prolonged survival. This study demonstrates that CNP acts locally as a positive regulator of endochondral ossification in vivo and suggests its pathophysiological and therapeutic implication in some forms of skeletal dysplasia. PMID:11259675

  15. Increased intracellular proteolysis reduces disease severity in an ER stress-associated dwarfism.

    Science.gov (United States)

    Mullan, Lorna A; Mularczyk, Ewa J; Kung, Louise H; Forouhan, Mitra; Wragg, Jordan Ma; Goodacre, Royston; Bateman, John F; Swanton, Eileithyia; Briggs, Michael D; Boot-Handford, Raymond P

    2017-10-02

    The short-limbed dwarfism metaphyseal chondrodysplasia type Schmid (MCDS) is linked to mutations in type X collagen, which increase ER stress by inducing misfolding of the mutant protein and subsequently disrupting hypertrophic chondrocyte differentiation. Here, we show that carbamazepine (CBZ), an autophagy-stimulating drug that is clinically approved for the treatment of seizures and bipolar disease, reduced the ER stress induced by 4 different MCDS-causing mutant forms of collagen X in human cell culture. Depending on the nature of the mutation, CBZ application stimulated proteolysis of misfolded collagen X by either autophagy or proteasomal degradation, thereby reducing intracellular accumulation of mutant collagen. In MCDS mice expressing the Col10a1.pN617K mutation, CBZ reduced the MCDS-associated expansion of the growth plate hypertrophic zone, attenuated enhanced expression of ER stress markers such as Bip and Atf4, increased bone growth, and reduced skeletal dysplasia. CBZ produced these beneficial effects by reducing the MCDS-associated abnormalities in hypertrophic chondrocyte differentiation. Stimulation of intracellular proteolysis using CBZ treatment may therefore be a clinically viable way of treating the ER stress-associated dwarfism MCDS.

  16. A COL11A2 mutation in Labrador retrievers with mild disproportionate dwarfism.

    Science.gov (United States)

    Frischknecht, Mirjam; Niehof-Oellers, Helena; Jagannathan, Vidhya; Owczarek-Lipska, Marta; Drögemüller, Cord; Dietschi, Elisabeth; Dolf, Gaudenz; Tellhelm, Bernd; Lang, Johann; Tiira, Katriina; Lohi, Hannes; Leeb, Tosso

    2013-01-01

    We describe a mild form of disproportionate dwarfism in Labrador Retrievers, which is not associated with any obvious health problems such as secondary arthrosis. We designate this phenotype as skeletal dysplasia 2 (SD2). It is inherited as a monogenic autosomal recessive trait with incomplete penetrance primarily in working lines of the Labrador Retriever breed. Using 23 cases and 37 controls we mapped the causative mutation by genome-wide association and homozygosity mapping to a 4.44 Mb interval on chromosome 12. We re-sequenced the genome of one affected dog at 30x coverage and detected 92 non-synonymous variants in the critical interval. Only two of these variants, located in the lymphotoxin A (LTA) and collagen alpha-2(XI) chain gene (COL11A2), respectively, were perfectly associated with the trait. Previously described COL11A2 variants in humans or mice lead to skeletal dysplasias and/or deafness. The dog variant associated with disproportionate dwarfism, COL11A2:c.143G>C or p.R48P, probably has only a minor effect on collagen XI function, which might explain the comparatively mild phenotype seen in our study. The identification of this candidate causative mutation thus widens the known phenotypic spectrum of COL11A2 mutations. We speculate that non-pathogenic COL11A2 variants might even contribute to the heritable variation in height.

  17. Laron Dwarfism and Non-Insulin-Dependent Diabetes Mellitus in the Hnf-1α Knockout Mouse

    Science.gov (United States)

    Lee, Ying-Hue; Sauer, Brian; Gonzalez, Frank J.

    1998-01-01

    Mice deficient in hepatocyte nuclear factor 1 alpha (HNF-1α) were produced by use of the Cre-loxP recombination system. HNF-1α-null mice are viable but sterile and exhibit a phenotype reminiscent of both Laron-type dwarfism and non-insulin-dependent diabetes mellitus (NIDDM). In contrast to an earlier HNF-1α-null mouse line that had been produced by use of standard gene disruption methodology (M. Pontoglio, J. Barra, M. Hadchouel, A. Doyen, C. Kress, J. P. Bach, C. Babinet, and M. Yaniv, Cell 84:575–585, 1996), these mice exhibited no increased mortality and only minimal renal dysfunction during the first 6 months of development. Both dwarfism and NIDDM are most likely due to the loss of expression of insulin-like growth factor I (IGF-I) and lower levels of insulin, resulting in stunted growth and elevated serum glucose levels, respectively. These results confirm the functional significance of the HNF-1α regulatory elements that had previously been shown to reside in the promoter regions of both the IGF-I and the insulin genes. PMID:9566924

  18. Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.

    Science.gov (United States)

    Reynolds, John J; Bicknell, Louise S; Carroll, Paula; Higgs, Martin R; Shaheen, Ranad; Murray, Jennie E; Papadopoulos, Dimitrios K; Leitch, Andrea; Murina, Olga; Tarnauskaitė, Žygimantė; Wessel, Sarah R; Zlatanou, Anastasia; Vernet, Audrey; von Kriegsheim, Alex; Mottram, Rachel M A; Logan, Clare V; Bye, Hannah; Li, Yun; Brean, Alexander; Maddirevula, Sateesh; Challis, Rachel C; Skouloudaki, Kassiani; Almoisheer, Agaadir; Alsaif, Hessa S; Amar, Ariella; Prescott, Natalie J; Bober, Michael B; Duker, Angela; Faqeih, Eissa; Seidahmed, Mohammed Zain; Al Tala, Saeed; Alswaid, Abdulrahman; Ahmed, Saleem; Al-Aama, Jumana Yousuf; Altmüller, Janine; Al Balwi, Mohammed; Brady, Angela F; Chessa, Luciana; Cox, Helen; Fischetto, Rita; Heller, Raoul; Henderson, Bertram D; Hobson, Emma; Nürnberg, Peter; Percin, E Ferda; Peron, Angela; Spaccini, Luigina; Quigley, Alan J; Thakur, Seema; Wise, Carol A; Yoon, Grace; Alnemer, Maha; Tomancak, Pavel; Yigit, Gökhan; Taylor, A Malcolm R; Reijns, Martin A M; Simpson, Michael A; Cortez, David; Alkuraya, Fowzan S; Mathew, Christopher G; Jackson, Andrew P; Stewart, Grant S

    2017-04-01

    To ensure efficient genome duplication, cells have evolved numerous factors that promote unperturbed DNA replication and protect, repair and restart damaged forks. Here we identify downstream neighbor of SON (DONSON) as a novel fork protection factor and report biallelic DONSON mutations in 29 individuals with microcephalic dwarfism. We demonstrate that DONSON is a replisome component that stabilizes forks during genome replication. Loss of DONSON leads to severe replication-associated DNA damage arising from nucleolytic cleavage of stalled replication forks. Furthermore, ATM- and Rad3-related (ATR)-dependent signaling in response to replication stress is impaired in DONSON-deficient cells, resulting in decreased checkpoint activity and the potentiation of chromosomal instability. Hypomorphic mutations in DONSON substantially reduce DONSON protein levels and impair fork stability in cells from patients, consistent with defective DNA replication underlying the disease phenotype. In summary, we have identified mutations in DONSON as a common cause of microcephalic dwarfism and established DONSON as a critical replication fork protein required for mammalian DNA replication and genome stability.

  19. Involvement of Auxin and Brassinosteroid in Dwarfism of Autotetraploid Apple (Malus × domestica).

    Science.gov (United States)

    Ma, Yue; Xue, Hao; Zhang, Lei; Zhang, Feng; Ou, Chunqing; Wang, Feng; Zhang, Zhihong

    2016-05-24

    The plant height is an important trait in fruit tree. However, the molecular mechanism on dwarfism is still poorly understood. We found that colchicine-induced autotetraploid apple plants (Malus × domestica) exhibited a dwarf phenotype. The vertical length of cortical parenchyma cells was shorter in autotetraploids than in diploids, by observing paraffin sections. Hormone levels of indoleacetic acid (IAA) and brassinosteroid (BR) were significantly decreased in 3- and 5-year-old autotetraploid plants. Digital gene expression (DGE) analysis showed that the differentially expressed genes were mainly involved in IAA and BR pathways. microRNA390 was significantly upregulated according to microarray analysis. Exogenous application of IAA and BR promoted stem elongation of both apple plants grown in medium. The results show that dwarfing in autotetraploid apple plants is most likely regulated by IAA and BR. The dwarf phenotype of autotetraploid apple plants could be due to accumulation of miR390 after genome doubling, leading to upregulation of apple trans-acting short-interfering RNA 3 (MdTAS3) expression, which in turn downregulates the expression of MdARF3. Overall, this leads to partial interruption of the IAA and BR signal transduction pathway. Our study provides important insights into the molecular mechanisms underlying dwarfism in autopolyploid apple plants.

  20. 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.

  1. Observational constraints on the primordial curvature power spectrum

    Science.gov (United States)

    Emami, Razieh; Smoot, George F.

    2018-01-01

    CMB temperature fluctuation observations provide a precise measurement of the primordial power spectrum on large scales, corresponding to wavenumbers 10‑3 Mpc‑1 lesssim k lesssim 0.1 Mpc‑1, [1-7, 11]. Luminous red galaxies and galaxy clusters probe the matter power spectrum on overlapping scales (0.02 Mpc‑1 lesssim k lesssim 0.7 Mpc‑1 [10, 12-20]), while the Lyman-alpha forest reaches slightly smaller scales (0.3 Mpc‑1 lesssim k lesssim 3 Mpc‑1 [22]). These observations indicate that the primordial power spectrum is nearly scale-invariant with an amplitude close to 2 × 10‑9, [5, 23-28]. These observations strongly support Inflation and motivate us to obtain observations and constraints reaching to smaller scales on the primordial curvature power spectrum and by implication on Inflation. We are able to obtain limits to much higher values of k lesssim 105 Mpc‑1 and with less sensitivity even higher k lesssim 1019‑ 1023 Mpc‑1 using limits from CMB spectral distortions and other limits on ultracompact minihalo objects (UCMHs) and Primordial Black Holes (PBHs). PBHs are one of the known candidates for the Dark Matter (DM). Due to their very early formation, they could give us valuable information about the primordial curvature perturbations. These are complementary to other cosmological bounds on the amplitude of the primordial fluctuations. In this paper, we revisit and collect all the published constraints on both PBHs and UCMHs. We show that unless one uses the CMB spectral distortion, PBHs give us a very relaxed bounds on the primordial curvature perturbations. UCMHs, on the other hand, are very informative over a reasonable k range (3 lesssim k lesssim 106 Mpc‑1) and lead to significant upper-bounds on the curvature spectrum. We review the conditions under which the tighter constraints on the UCMHs could imply extremely strong bounds on the fraction of DM that could be PBHs in reasonable models. Failure to satisfy these conditions would

  2. Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7

    NARCIS (Netherlands)

    Leegwater, Peter A|info:eu-repo/dai/nl/074236539; Vos-Loohuis, Manon; Ducro, Bart J; Boegheim, Iris J; van Steenbeek, Frank G|info:eu-repo/dai/nl/314417958; Nijman, Isaac J; Monroe, Glen R; Bastiaansen, John W M; Dibbits, Bert W; van de Goor, Leanne H; Hellinga, Ids; Back, Willem|info:eu-repo/dai/nl/125023707; Schurink, Anouk

    2016-01-01

    BACKGROUND: Inbreeding and population bottlenecks in the ancestry of Friesian horses has led to health issues such as dwarfism. The limbs of dwarfs are short and the ribs are protruding inwards at the costochondral junction, while the head and back appear normal. A striking feature of the condition

  3. Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7

    NARCIS (Netherlands)

    Leegwater, Peter A.; Vos-Loohuis, Manon; Ducro, Bart J.; Boegheim, Iris J.; Bastiaansen, John W.M.; Dibbits, Bert W.; Schurink, Anouk

    2016-01-01

    Background: Inbreeding and population bottlenecks in the ancestry of Friesian horses has led to health issues such as dwarfism. The limbs of dwarfs are short and the ribs are protruding inwards at the costochondral junction, while the head and back appear normal. A striking feature of the

  4. Effect of vacuum energy on evolution of primordial black holes in Einstein gravity

    International Nuclear Information System (INIS)

    Nayak, Bibekananda; Jamil, Mubasher

    2012-01-01

    We study the evolution of primordial black holes by considering present universe is no more matter dominated rather vacuum energy dominated. We also consider the accretion of radiation, matter and vacuum energy during respective dominance period. In this scenario, we found that radiation accretion efficiency should be less than 0.366 and accretion rate is much larger than previous analysis by Nayak et al. (2009) . Thus here primordial black holes live longer than previous works Nayak and Singh (2011). Again matter accretion slightly increases the mass and lifetime of primordial black holes. However, the vacuum energy accretion is slightly complicated one, where accretion is possible only up to a critical time. If a primordial black hole lives beyond critical time, then its' lifespan increases due to vacuum energy accretion. But for presently evaporating primordial black holes, critical time comes much later than their evaporating time and thus vacuum energy could not affect those primordial black holes.

  5. The Cosmochemistry of Pluto: A Primordial Origin of Volatiles?

    Science.gov (United States)

    Glein, C. R.; Waite, J. H., Jr.

    2017-12-01

    Pluto is a wonderland of volatiles. Nitrogen, methane, and carbon monoxide are the principal volatiles that maintain its tenuous atmosphere, and they have also created a mesmerizing landscape of icy geological features, including Pluto's iconic "heart". Recent data, particularly those returned by the New Horizons mission [1-3], allow us to begin testing hypotheses for the cosmochemical origins of these world-shaping species on Pluto. Here, we investigate if Pluto's volatiles could have been accreted in its building blocks. We take both bottom-up and top-down approaches in testing this hypothesis in terms of mass balance. We estimate Pluto's primordial inventory of volatiles by scaling a range of cometary abundances up to the ice mass fraction of Pluto. We also make estimates of the present and lost inventories of volatiles based on surface observations and interpretations, as well as different scenarios of atmospheric photochemistry and escape. We find that, if primordial Pluto resembled a giant comet with respect to volatile abundances, then the initial volatile inventory would have been sufficient to account for the estimated present and lost inventories. This consistency supports a primordial origin for Pluto's volatiles. However, the observed ratio of CO/N2 in Pluto's atmosphere [4] is several orders of magnitude lower than the nominal cometary value. We are currently using phase equilibrium and rate models to explore if volatile layering in Sputnik Planitia, or the destruction of CO in a past or present subsurface ocean of liquid water could explain the apparent depletion of CO on Pluto. References: [1] Moore et al. (2016) Science 351, 1284. [2] Grundy et al. (2016) Science 351, aad9189. [3] Gladstone et al. (2016) Science 351, aad8866. [4] Lellouch et al. (2017) Icarus 286, 289.

  6. The statistics of maxima in primordial density perturbations

    International Nuclear Information System (INIS)

    Peacock, J.A.; Heavens, A.F.

    1985-01-01

    An investigation has been made of the hypothesis that protogalaxies/protoclusters form at the sites of maxima in a primordial field of normally distributed density perturbations. Using a mixture of analytic and numerical techniques, the properties of the maxima, have been studied. The results provide a natural mechanism for biased galaxy formation in which galaxies do not necessarily follow the large-scale density. Methods for obtained the true autocorrelation function of the density field and implications for Microwave Background studies are discussed. (author)

  7. Bicycling to Work and Primordial Prevention of Cardiovascular Risk

    DEFF Research Database (Denmark)

    Grøntved, Anders; Koivula, Robert W; Johansson, Ingegerd

    2016-01-01

    of incident obesity, hypertension, hypertriglyceridemia, and impaired glucose tolerance, comparing individuals who commuted to work by bicycle with those who used passive modes of transportation. We also examined the relationship of change in commuting mode with incidence of these clinical risk factors......% CI 0.74-0.91) compared with participants not cycling to work at both times points or who switched from cycling to other modes of transport during follow-up. CONCLUSIONS: These data suggest that commuting by bicycle to work is an important strategy for primordial prevention of clinical cardiovascular...... risk factors among middle-aged men and women....

  8. Les Houches 1999 Summer School, Session 71 : The Primordial Universe

    CERN Document Server

    Schäffer, R; Silk, J; David, F

    2000-01-01

    This book reviews the interconnection of cosmology and particle physics over the last decade. It provides introductory courses in supersymmetry, superstring and M-theory, responding to an increasing interest to evaluate the cosmological consequences of these theories. Based on a series of extended courses providing an introduction to the physics of the very early universe, in the light of the most recent advances in our understanding of the fundamental interactions, it reviews all the classical issues (inflation, primordial fluctuations, dark matter, baryogenesis), but also introduces the most

  9. Primordial gravitational waves measurements and anisotropies of CMB polarization rotation

    Directory of Open Access Journals (Sweden)

    Si-Yu Li

    2015-12-01

    Full Text Available Searching for the signal of primordial gravitational waves in the B-modes (BB power spectrum is one of the key scientific aims of the cosmic microwave background (CMB polarization experiments. However, this could be easily contaminated by several foreground issues, such as the interstellar dust grains and the galactic cyclotron electrons. In this paper we study another mechanism, the cosmic birefringence, which can be introduced by a CPT-violating interaction between CMB photons and an external scalar field. Such kind of interaction could give rise to the rotation of the linear polarization state of CMB photons, and consequently induce the CMB BB power spectrum, which could mimic the signal of primordial gravitational waves at large scales. With the recently released polarization data of BICEP2 and the joint analysis data of BICEP2/Keck Array and Planck, we perform a global fitting analysis on constraining the tensor-to-scalar ratio r by considering the polarization rotation angle [α(nˆ] which can be separated into a background isotropic part [α¯] and a small anisotropic part [Δα(nˆ]. Since the data of BICEP2 and Keck Array experiments have already been corrected by using the “self-calibration” method, here we mainly focus on the effects from the anisotropies of CMB polarization rotation angle. We find that including Δα(nˆ in the analysis could slightly weaken the constraints on the tensor-to-scalar ratio r, when using current CMB polarization measurements. We also simulate the mock CMB data with the BICEP3-like sensitivity. Very interestingly, we find that if the effects of the anisotropic polarization rotation angle could not be taken into account properly in the analysis, the constraints on r will be dramatically biased. This implies that we need to break the degeneracy between the anisotropies of the CMB polarization rotation angle and the CMB primordial tensor perturbations, in order to measure the signal of primordial

  10. The quark-hadron phase transition and primordial nucleosynthesis

    Science.gov (United States)

    Hogan, Craig J.

    1987-01-01

    After presenting the current view of the processes taking place during the cosmological transition from 'quark soup' to normal hadron matter, attention is given to what happens to cosmological nucleosynthesis in the presence of small-scale baryon inhomogeneities. The QCD phase transition is among the plausible sources of this inhomogeneity. It is concluded that the formation of primordial 'quark nuggets' and other cold exotica requires very low entropy regions at the outset, and that even the more modest nonlinearities perturbing nucleosynthesis probably require some ingredient in addition to a quiescent, mildly supercooled transition.

  11. Cosmic gamma radiation of ultra high energy of primordial origin

    International Nuclear Information System (INIS)

    Aquino Filho, F.G. de.

    1984-01-01

    The quantum mechanical effects near a collapsing black hole as shown by Stephen W.Hawking in 1974 to produce streaming particles through tunneling effect was explored in the context of cosmic gamma ray production. In this thesis, we show the possible production of gamma rays of high energies (ν approx 10 41 Hz) in the initial stages of the formation of the Universe by the explosion of primordial mini black holes. These mini black hole explosions happening at 10 -43 s to 10 -37 s after the start perhaps may account for the existing universal cosmic background radiation of 2.7 0 K. (Author) [pt

  12. Baryogenesis in extended inflation. II. Baryogenesis via primordial black holes

    International Nuclear Information System (INIS)

    Barrow, J.D.; Copeland, E.J.; Kolb, E.W.; Liddle, A.R.

    1991-01-01

    This is the second of two papers devoted to the study of baryogenesis at the end of extended inflation. Extended inflation is brought to an end by the collisions of bubble walls surrounding regions of true vacuum, a process which produces particles well out of thermal equilibrium. In the first paper we considered baryogenesis via direct production and subsequent decay of baryon-number-violating bosons. In this paper we consider the further possibility that the wall collisions may provide a significant density of primordial black holes and examine their possible role in generating a baryon asymmetry

  13. Influence of the social context on use of surgical-lengthening and group-empowering coping strategies among people with dwarfism.

    Science.gov (United States)

    Fernández, Saulo; Branscombe, Nyla R; Gómez, Angel; Morales, J Francisco

    2012-08-01

    To assess the role that social contextual factors exert on the way people with disproportionate short stature (dwarfism) cope with the negative consequences of discrimination. Using multigroup structural equation modeling, we compare the coping process of people with dwarfism from Spain (N = 63) and the USA (N = 145), two countries that differ in the role played by organizations offering support to people with dwarfism. In Spain, where organizational support is recent, a coping approach aimed at achieving integration with the majority group through limb-lengthening surgery prevails; in the USA, where the long-standing organization of people with dwarfism encourages pride in being a "little person" and positive intragroup contact, a coping strategy based on empowering the minority group dominates. Both strategies, each in its own context, are effective at protecting psychological well-being from the negative consequences of stigmatization; however, they exert their positive effects through different processes.

  14. Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean Population.

    Directory of Open Access Journals (Sweden)

    Eun Jin Woo

    Full Text Available Skeletal dysplasias related to genetic etiologies have rarely been reported for past populations. This report presents the skeletal characteristics of an individual with dwarfism-related skeletal dysplasia from South Korea. To assess abnormal deformities, morphological features, metric data, and computed tomography scans are analyzed. Differential diagnoses include achondroplasia or hypochondroplasia, chondrodysplasia, multiple epiphyseal dysplasia, thalassemia-related hemolytic anemia, and lysosomal storage disease. The diffused deformities in the upper-limb bones and several coarsened features of the craniofacial bones indicate the most likely diagnosis to have been a certain type of lysosomal storage disease. The skeletal remains of EP-III-4-No.107 from the Eunpyeong site, although incomplete and fragmented, provide important clues to the paleopathological diagnosis of skeletal dysplasias.

  15. Dwarfism and age-associated spinal degeneration of heterozygote cmd mice defective in aggrecan

    Science.gov (United States)

    Watanabe, Hideto; Nakata, Ken; Kimata, Koji; Nakanishi, Isao; Yamada, Yoshihiko

    1997-01-01

    Mouse cartilage matrix deficiency (cmd) is an autosomal recessive disorder caused by a genetic defect of aggrecan, a large chondroitin sulfate proteoglycan in cartilage. The homozygotes (−/−) are characterized by cleft palate and short limbs, tail, and snout. They die just after birth because of respiratory failure, and the heterozygotes (+/−) appear normal at birth. Here we report that the heterozygotes show dwarfism and develop spinal misalignment with age. Within 19 months of age, they exhibit spastic gait caused by misalignment of the cervical spine and die because of starvation. Histological examination revealed a high incidence of herniation and degeneration of vertebral discs. Electron microscopy showed a degeneration of disc chondrocytes in the heterozygotes. These findings may facilitate the identification of mutations in humans predisposed to spinal degeneration. PMID:9192671

  16. Mandible shape and dwarfism in squirrels (Mammalia, Rodentia): interaction of allometry and adaptation

    Science.gov (United States)

    Hautier, Lionel; Fabre, Pierre-Henri; Michaux, Jacques

    2009-06-01

    Squirrels include several independent lineages of dwarf forms distributed into two ecological groups: the dwarf tree and flying squirrels. The mandible of dwarf tree squirrels share a highly reduced coronoid process and a condylar process drawn backwards. Dwarf flying squirrels on the other hand, have an elongated coronoid process and a well-differentiated condylar process. To interpret such a difference, Elliptic Fourier Transform was used to evaluate how mandible shape varies with dwarfism in sciurids. The results obtained show that this clear-cut difference cannot be explained by a simple allometric relationship in relation with size decrease. We concluded that the retention of anteriorly positioned eye sockets, in relation with distance estimation, allowed the conservation of a well-differentiated coronoid process in all flying species, despite the trend towards its reduction observed among sciurids as their size decreases.

  17. Radiolical findings in the hand in Seckel syndrome (bird-headed dwarfism)

    International Nuclear Information System (INIS)

    Poznanski, A.K.; Northwestern Univ., Chicago, IL; Iannaccone, G.; Pasquino, A.M.; Boscherini, B.

    1983-01-01

    Two patients with severe intrauterine growth retardation and bird-headed appearance are described. These two children had most of the clinical features of the so-called Seckel dwarfism. The radiological findings included: (1) ivory epiphyses affecting all phalanges in one patient and many phalanges in another; (2) cone-shaped epiphyses in the proximal phalanges; (3) marked disharmonic bone maturation between carpals and phalanges, between individual carpals, and from side to side; (4) alteration in the length of the hand bones, with considerable similarity of the metacarpophalangeal pattern between the two children; (5) relatively small carpals, which have an angular configuration; and (6) relatively normal or increased cortical thickness of the metacarpals. (orig.)

  18. Pregnancy Outcome in Cartilage-Hair Hypoplasia, a Rare Form of Dwarfism

    Directory of Open Access Journals (Sweden)

    Harshithaa Thavarajah

    2017-01-01

    Full Text Available Background. This case report discusses the pregnancy outcome of a patient with cartilage-hair hypoplasia, a rare form of dwarfism, and multiple previous orthopedic surgeries. Literature on pregnancy outcomes in patients with cartilage-hair hypoplasia is limited. Case. A 32-year-old patient with cartilage-hair hypoplasia presented at 12 weeks’ gestation to the high-risk obstetrics clinic for care. Preterm labor resulted in cesarean delivery at 34 weeks’ gestation with general anesthetic. Breastfeeding was stopped at 6 weeks due to neonatal complications. Conclusion. Pregnancy and delivery were uncomplicated. A multidisciplinary approach allowed for effective management during pregnancy and postnatal care. This is the first known documented case of prenatal care, delivery, and breastfeeding in a woman with this rare disorder.

  19. Common atrium associated with polydactily and dwarfism in middle age male patient.

    Science.gov (United States)

    Gorani, Daut R; Kamberi, Lulzim S; Gorani, Nora S

    2011-01-01

    Polydactyly associated with dwarfism may serve as a hint for the presence of additional congenital cardiac abnormalities, thus rousing the demand for a detailed cardiac and genetic investigation. In our case, echocardiography findings led to the diagnosis of most likely Ellis-van Creveld syndrome. We may conclude that prenatal diagnosis of the syndrome can be readily achieved by fetoscopy, fetal echocardiography, and molecular genetic testing by amniocentesis or DNA extracted from chorionic villus samples. Prenatal diagnosis can also be established using mutation analysis of EVC gene from fetal DNA. These cases emphasis the importance of fetal examination for accurate diagnosis of rare syndromes. Education of the general public, especially parents, on congenital anomalies as well as improvement of medical and diagnostic facilities is therefore suggested, if not demanded.

  20. Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population.

    Science.gov (United States)

    Woo, Eun Jin; Lee, Won-Joon; Hu, Kyung-Seok; Hwang, Jae Joon

    2015-01-01

    Skeletal dysplasias related to genetic etiologies have rarely been reported for past populations. This report presents the skeletal characteristics of an individual with dwarfism-related skeletal dysplasia from South Korea. To assess abnormal deformities, morphological features, metric data, and computed tomography scans are analyzed. Differential diagnoses include achondroplasia or hypochondroplasia, chondrodysplasia, multiple epiphyseal dysplasia, thalassemia-related hemolytic anemia, and lysosomal storage disease. The diffused deformities in the upper-limb bones and several coarsened features of the craniofacial bones indicate the most likely diagnosis to have been a certain type of lysosomal storage disease. The skeletal remains of EP-III-4-No.107 from the Eunpyeong site, although incomplete and fragmented, provide important clues to the paleopathological diagnosis of skeletal dysplasias.

  1. Ghrelin-stimulation test in the diagnosis of canine pituitary dwarfism.

    Science.gov (United States)

    Bhatti, S F M; De Vliegher, S P; Mol, J A; Van Ham, L M L; Kooistra, H S

    2006-08-01

    This study investigated whether ghrelin, a potent releaser of growth hormone (GH) secretion, is a valuable tool in the diagnosis of canine pituitary dwarfism. The effect of intravenous administration of ghrelin on the release of GH and other adenohypophyseal hormones was investigated in German shepherd dogs with congenital combined pituitary hormone deficiency and in healthy Beagles. Analysis of the maximal increment (i.e. difference between pre- and maximal post-ghrelin plasma hormone concentration) indicated that the GH response was significantly lower in the dwarf dogs compared with the healthy dogs. In none of the pituitary dwarfs, the ghrelin-induced plasma GH concentration exceeded 5 microg/l at any time. However, this was also true for 3 healthy dogs. In all dogs, ghrelin administration did not affect the plasma concentrations of ACTH, cortisol, TSH, LH and PRL . Thus, while a ghrelin-induced plasma GH concentration above 5 microg/l excludes GH deficiency, false-negative results may occur.

  2. Radiological findings in the hand in Seckel syndrome (bird-headed dwarfism)

    Energy Technology Data Exchange (ETDEWEB)

    Poznanski, A.K.; Iannaccone, G.; Pasquino, A.M.; Boscherini, B.

    1983-02-01

    Two patients with severe intrauterine growth retardation and bird-headed appearance are described. These two children had most of the clinical features of the so-called Seckel dwarfism. The radiological findings included: (1) ivory epiphyses affecting all phalanges in one patient and many phalanges in another; (2) cone-shaped epiphyses in the proximal phalanges; (3) marked disharmonic bone maturation between carpals and phalanges, between individual carpals, and from side to side; (4) alteration in the length of the hand bones, with considerable similarity of the metacarpophalangeal pattern between the two children; (5) relatively small carpals, which have an angular configuration; and (6) relatively normal or increased cortical thickness of the metacarpals.

  3. Non-standard primordial fluctuations and nongaussianity in string inflation

    International Nuclear Information System (INIS)

    Burgess, C.P.; Cicoli, M.; Gomez-Reino, M.; Tasinato, G.; Zavala, I.

    2010-05-01

    Inflationary scenarios in string theory often involve a large number of light scalar fields, whose presence can enrich the post-inflationary evolution of primordial fluctuations generated during the inflationary epoch. We provide a simple example of such post-inflationary processing within an explicit string-inflationary construction, using a Kaehler modulus as the inflaton within the framework of LARGE Volume Type-IIB string flux compactifications. We argue that inflationary models within this broad category often have a selection of scalars that are light enough to be cosmologically relevant, whose contributions to the primordial fluctuation spectrum can compete with those generated in the standard way by the inflaton. These models consequently often predict nongaussianity at a level, f NL ≅O(10), potentially observable by the Planck satellite, with a bi-spectrum maximized by triangles with squeezed shape in a string realization of the curvaton scenario. We argue that the observation of such a signal would robustly prefer string cosmologies such as these that predict a multi-field dynamics during the very early universe. (orig.)

  4. Non-Standard Primordial Fluctuations and Nongaussianity in String Inflation

    International Nuclear Information System (INIS)

    Burgess, C.P.; Cicoli, M.; Gomez-Reino, M.; Quevedo, F.; Tasinato, G.; Zavala, I.

    2010-05-01

    Inflationary scenarios in string theory often involve a large number of light scalar fields, whose presence can enrich the post-inflationary evolution of primordial fluctuations generated during the inflationary epoch. We provide a simple example of such post-inflationary processing within an explicit string-inflationary construction, using a Kaehler modulus as the inflaton within the framework of LARGE Volume Type-IIB string flux compactifications. We argue that inflationary models within this broad category often have a selection of scalars that are light enough to be cosmologically relevant, whose contributions to the primordial fluctuation spectrum can compete with those generated in the standard way by the inflaton. These models consequently often predict nongaussianity at a level, f NL ≅ O(10), potentially observable by the Planck satellite, with a bi-spectrum maximized by triangles with squeezed shape in a string realization of the curvaton scenario. We argue that the observation of such a signal would robustly prefer string cosmologies such as these that predict a multi-field dynamics during the very early universe. (author)

  5. Primordial linkage of β2-microglobulin to the MHC.

    Science.gov (United States)

    Ohta, Yuko; Shiina, Takashi; Lohr, Rebecca L; Hosomichi, Kazuyoshi; Pollin, Toni I; Heist, Edward J; Suzuki, Shingo; Inoko, Hidetoshi; Flajnik, Martin F

    2011-03-15

    β2-Microglobulin (β2M) is believed to have arisen in a basal jawed vertebrate (gnathostome) and is the essential L chain that associates with most MHC class I molecules. It contains a distinctive molecular structure called a constant-1 Ig superfamily domain, which is shared with other adaptive immune molecules including MHC class I and class II. Despite its structural similarity to class I and class II and its conserved function, β2M is encoded outside the MHC in all examined species from bony fish to mammals, but it is assumed to have translocated from its original location within the MHC early in gnathostome evolution. We screened a nurse shark bacterial artificial chromosome library and isolated clones containing β2M genes. A gene present in the MHC of all other vertebrates (ring3) was found in the bacterial artificial chromosome clone, and the close linkage of ring3 and β2M to MHC class I and class II genes was determined by single-strand conformational polymorphism and allele-specific PCR. This study satisfies the long-held conjecture that β2M was linked to the primordial MHC (Ur MHC); furthermore, the apparent stability of the shark genome may yield other genes predicted to have had a primordial association with the MHC specifically and with immunity in general.

  6. Single field double inflation and primordial black holes

    Energy Technology Data Exchange (ETDEWEB)

    Kannike, K.; Marzola, L.; Raidal, M.; Veermäe, H., E-mail: kristjan.kannike@cern.ch, E-mail: luca.marzola@cern.ch, E-mail: martti.raidal@cern.ch, E-mail: hardi.veermae@cern.ch [National Institute of Chemical Physics and Biophysics, Rävala 10, 10143 Tallinn (Estonia)

    2017-09-01

    Within the framework of scalar-tensor theories, we study the conditions that allow single field inflation dynamics on small cosmological scales to significantly differ from that of the large scales probed by the observations of cosmic microwave background. The resulting single field double inflation scenario is characterised by two consequent inflation eras, usually separated by a period where the slow-roll approximation fails. At large field values the dynamics of the inflaton is dominated by the interplay between its non-minimal coupling to gravity and the radiative corrections to the inflaton self-coupling. For small field values the potential is, instead, dominated by a polynomial that results in a hilltop inflation. Without relying on the slow-roll approximation, which is invalidated by the appearance of the intermediate stage, we propose a concrete model that matches the current measurements of inflationary observables and employs the freedom granted by the framework on small cosmological scales to give rise to a sizeable population of primordial black holes generated by large curvature fluctuations. We find that these features generally require a potential with a local minimum. We show that the associated primordial black hole mass function is only approximately lognormal.

  7. Primordial Molecular Cloud Material in Metal-Rich Carbonaceous Chondrites

    Science.gov (United States)

    Taylor, G. J.

    2016-03-01

    The menagerie of objects that make up our Solar System reflects the composition of the huge molecular cloud in which the Sun formed, a late addition of short-lived isotopes from an exploding supernova or stellar winds from a neighboring massive star, heating and/or alteration by water in growing planetesimals that modified and segregated the primordial components, and mixing throughout the Solar System. Outer Solar System objects, such as comets, have always been cold, hence minimizing the changes experienced by more processed objects. They are thought to preserve information about the molecular cloud. Elishevah Van Kooten (Natural History Museum of Denmark and the University of Copenhagen) and co-authors in Denmark and at the University of Hawai'i, measured the isotopic compositions of magnesium and chromium in metal-rich carbonaceous chondrites. They found that the meteorites preserve an isotopic signature of primordial molecular cloud materials, providing a potentially detailed record of the molecular cloud's composition and of materials that formed in the outer Solar System.

  8. Planck 2013 Results. XXIV. Constraints on primordial non-Gaussianity

    CERN Document Server

    Ade, P.A.R.; Armitage-Caplan, C.; Arnaud, M.; Ashdown, M.; Atrio-Barandela, F.; Aumont, J.; Baccigalupi, C.; Banday, A.J.; Barreiro, R.B.; Bartlett, J.G.; Bartolo, N.; Battaner, E.; Benabed, K.; Benoit, A.; Benoit-Levy, A.; Bernard, J.P.; Bersanelli, M.; Bielewicz, P.; Bobin, J.; Bock, J.J.; Bonaldi, A.; Bonavera, L.; Bond, J.R.; Borrill, J.; Bouchet, F.R.; Bridges, M.; Bucher, M.; Burigana, C.; Butler, R.C.; Cardoso, J.F.; Catalano, A.; Challinor, A.; Chamballu, A.; Chiang, L.Y.; Chiang, H.C.; Christensen, P.R.; Church, S.; Clements, D.L.; Colombi, S.; Colombo, L.P.L.; Couchot, F.; Coulais, A.; Crill, B.P.; Curto, A.; Cuttaia, F.; Danese, L.; Davies, R.D.; Davis, R.J.; de Bernardis, P.; de Rosa, A.; de Zotti, G.; Delabrouille, J.; Delouis, J.M.; Desert, F.X.; Diego, J.M.; Dole, H.; Donzelli, S.; Dore, O.; Douspis, M.; Ducout, A.; Dunkley, J.; Dupac, X.; Efstathiou, G.; Elsner, F.; Ensslin, T.A.; Eriksen, H.K.; Fergusson, J.; Finelli, F.; Forni, O.; Frailis, M.; Franceschi, E.; Galeotta, S.; Ganga, K.; Giard, M.; Giraud-Heraud, Y.; Gonzalez-Nuevo, J.; Gorski, K.M.; Gratton, S.; Gregorio, A.; Gruppuso, A.; Hansen, F.K.; Hanson, D.; Harrison, D.; Heavens, A.; Henrot-Versille, S.; Hernandez-Monteagudo, C.; Herranz, D.; Hildebrandt, S.R.; Hivon, E.; Hobson, M.; Holmes, W.A.; Hornstrup, A.; Hovest, W.; Huffenberger, K.M.; Jaffe, T.R.; Jaffe, A.H.; Jones, W.C.; Juvela, M.; Keihanen, E.; Keskitalo, R.; Kisner, T.S.; Knoche, J.; Knox, L.; Kunz, M.; Kurki-Suonio, H.; Lacasa, F.; Lagache, G.; Lahteenmaki, A.; Lamarre, J.M.; Lasenby, A.; Laureijs, R.J.; Lawrence, C.R.; Leahy, J.P.; Leonardi, R.; Lesgourgues, J.; Lewis, A.; Liguori, M.; Lilje, P.B.; Linden-Vornle, M.; Lopez-Caniego, M.; Lubin, P.M.; Macias-Perez, J.F.; Maffei, B.; Maino, D.; Mandolesi, N.; Mangilli, A.; Marinucci, D.; Maris, M.; Marshall, D.J.; Martin, P.G.; Martinez-Gonzalez, E.; Masi, S.; Matarrese, S.; Matthai, F.; Mazzotta, P.; Meinhold, P.R.; Melchiorri, A.; Mendes, L.; Mennella, A.; Migliaccio, M.; Mitra, S.; Miville-Deschenes, M.A.; Moneti, A.; Montier, L.; Morgante, G.; Mortlock, D.; Moss, A.; Munshi, D.; Naselsky, P.; Natoli, P.; Netterfield, C.B.; Norgaard-Nielsen, H.U.; Noviello, F.; Novikov, D.; Novikov, I.; Osborne, S.; Oxborrow, C.A.; Paci, F.; Pagano, L.; Pajot, F.; Paoletti, D.; Pasian, F.; Patanchon, G.; Peiris, H.V.; Perdereau, O.; Perotto, L.; Perrotta, F.; Piacentini, F.; Piat, M.; Pierpaoli, E.; Pietrobon, D.; Plaszczynski, S.; Pointecouteau, E.; Polenta, G.; Ponthieu, N.; Popa, L.; Poutanen, T.; Pratt, G.W.; Prezeau, G.; Prunet, S.; Puget, J.L.; Rachen, J.P.; Racine, B.; Rebolo, R.; Reinecke, M.; Remazeilles, M.; Renault, C.; Renzi, A.; Ricciardi, S.; Riller, T.; Ristorcelli, I.; Rocha, G.; Rosset, C.; Roudier, G.; Rubino-Martin, J.A.; Rusholme, B.; Sandri, M.; Santos, D.; Savini, G.; Scott, D.; Seiffert, M.D.; Shellard, E.P.S.; Smith, K.; Spencer, L.D.; Starck, J.L.; Stolyarov, V.; Stompor, R.; Sudiwala, R.; Sunyaev, R.; Sureau, F.; Sutton, D.; Suur-Uski, A.S.; Sygnet, J.F.; Tauber, J.A.; Tavagnacco, D.; Terenzi, L.; Toffolatti, L.; Tomasi, M.; Tristram, M.; Tucci, M.; Tuovinen, J.; Valenziano, L.; Valiviita, J.; Van Tent, B.; Varis, J.; Vielva, P.; Villa, F.; Vittorio, N.; Wade, L.A.; Wandelt, B.D.; White, M.; White, S.D.M.; Yvon, D.; Zacchei, A.; Zonca, A.

    2014-01-01

    The Planck nominal mission cosmic microwave background (CMB) maps yield unprecedented constraints on primordial non-Gaussianity (NG). Using three optimal bispectrum estimators, separable template-fitting (KSW), binned, and modal, we obtain consistent values for the primordial local, equilateral, and orthogonal bispectrum amplitudes, quoting as our final result fNL^local= 2.7+/-5.8, fNL^equil= -42+/-75, and fNL^ortho= -25+\\-39 (68% CL statistical). NG is detected in the data; using skew-C_l statistics we find a nonzero bispectrum from residual point sources, and the ISW-lensing bispectrum at a level expected in the LambdaCDM scenario. The results are based on comprehensive cross-validation of these estimators on Gaussian and non-Gaussian simulations, are stable across component separation techniques, pass an extensive suite of tests, and are confirmed by skew-C_l, wavelet bispectrum and Minkowski functional estimators. Beyond estimates of individual shape amplitudes, we present model-independent, 3-dimensional...

  9. Constraining the primordial power spectrum from SNIa lensing dispersion

    Energy Technology Data Exchange (ETDEWEB)

    Ben-Dayan, Ido [Deutsches Elektronen-Synchrotron (DESY), Hamburg (Germany); Kalaydzhyan, Tigran [State Univ. of New York, Stony Brook, NY (United States). Dept. of Physics and Astronomy

    2013-09-15

    The (absence of detecting) lensing dispersion of Supernovae type Ia (SNIa) can be used as a novel and extremely efficient probe of cosmology. In this preliminary example we analyze its consequences for the primordial power spectrum. The main setback is the knowledge of the power spectrum in the non-linear regime, 1 Mpc{sup -1}primordial power spectrum. The probe extends our handle on the spectrum to a total of 12-15 inflation e-folds. These constraints are so strong that they are already ruling out a large portion of the parameter space allowed by PLANCK for running {alpha}{identical_to}dn{sub s}/d ln k and running of running {beta}{identical_to}d{sup 2}n{sub s}/d ln k{sup 2}. The bounds follow a linear relation to a very good accuracy. A conservative bound disfavours any enhancement above the line {beta}(k{sub 0})=0.032-0.41{alpha}(k{sub 0}) and a realistic estimate disfavours any enhancement above the line {beta}(k{sub 0})=0.019-0.45{alpha}(k{sub 0}).

  10. Towards Forming a Primordial Protostar in a Cosmological AMR Simulation

    Science.gov (United States)

    Turk, Matthew J.; Abel, Tom; O'Shea, Brian W.

    2008-03-01

    Modeling the formation of the first stars in the universe is a well-posed problem and ideally suited for computational investigation.We have conducted high-resolution numerical studies of the formation of primordial stars. Beginning with primordial initial conditions appropriate for a ΛCDM model, we used the Eulerian adaptive mesh refinement code (Enzo) to achieve unprecedented numerical resolution, resolving cosmological scales as well as sub-stellar scales simultaneously. Building on the work of Abel, Bryan and Norman (2002), we followed the evolution of the first collapsing cloud until molecular hydrogen is optically thick to cooling radiation. In addition, the calculations account for the process of collision-induced emission (CIE) and add approximations to the optical depth in both molecular hydrogen roto-vibrational cooling and CIE. Also considered are the effects of chemical heating/cooling from the formation/destruction of molecular hydrogen. We present the results of these simulations, showing the formation of a 10 Jupiter-mass protostellar core bounded by a strongly aspherical accretion shock. Accretion rates are found to be as high as one solar mass per year.

  11. Primordial-like enzymes from bacteria with reduced genomes.

    Science.gov (United States)

    Ferla, Matteo P; Brewster, Jodi L; Hall, Kelsi R; Evans, Gary B; Patrick, Wayne M

    2017-08-01

    The first cells probably possessed rudimentary metabolic networks, built using a handful of multifunctional enzymes. The promiscuous activities of modern enzymes are often assumed to be relics of this primordial era; however, by definition these activities are no longer physiological. There are many fewer examples of enzymes using a single active site to catalyze multiple physiologically-relevant reactions. Previously, we characterized the promiscuous alanine racemase (ALR) activity of Escherichia coli cystathionine β-lyase (CBL). Now we have discovered that several bacteria with reduced genomes lack alr, but contain metC (encoding CBL). We characterized the CBL enzymes from three of these: Pelagibacter ubique, the Wolbachia endosymbiont of Drosophila melanogaster (wMel) and Thermotoga maritima. Each is a multifunctional CBL/ALR. However, we also show that CBL activity is no longer required in these bacteria. Instead, the wMel and T. maritima enzymes are physiologically bi-functional alanine/glutamate racemases. They are not highly active, but they are clearly sufficient. Given the abundance of the microorganisms using them, we suggest that much of the planet's biochemistry is carried out by enzymes that are quite different from the highly-active exemplars usually found in textbooks. Instead, primordial-like enzymes may be an essential part of the adaptive strategy associated with streamlining. © 2017 The Authors. Molecular Microbiology Published by John Wiley & Sons Ltd.

  12. Conditional expression of Wnt4 during chondrogenesis leads to dwarfism in mice.

    Directory of Open Access Journals (Sweden)

    Hu-Hui Lee

    Full Text Available Wnts are expressed in the forming long bones, suggesting roles in skeletogenesis. To examine the action of Wnts in skeleton formation, we developed a genetic system to conditionally express Wnt4 in chondrogenic tissues of the mouse. A mouse Wnt4 cDNA was introduced into the ubiquitously expressed Rosa26 (R26 locus by gene targeting in embryonic stem (ES cells. The expression of Wnt4 from the R26 locus was blocked by a neomycin selection cassette flanked by loxP sites (floxneo that was positioned between the Rosa26 promoter and the Wnt4 cDNA, creating the allele designated R26(floxneoWnt4. Wnt4 expression was activated during chondrogenesis using Col2a1-Cre transgenic mice that express Cre recombinase in differentiating chondrocytes. R26(floxneoWnt4; Col2a1-Cre double heterozygous mice exhibited a growth deficiency, beginning approximately 7 to 10 days after birth, that resulted in dwarfism. In addition, they also had craniofacial abnormalities, and delayed ossification of the lumbar vertebrae and pelvic bones. Histological analysis revealed a disruption in the organization of the growth plates and a delay in the onset of the primary and secondary ossification centers. Molecular studies showed that Wnt4 overexpression caused decreased proliferation and altered maturation of chondrocytes. In addition, R26(floxneoWnt4; Col2a1-Cre mice had decreased expression of vascular endothelial growth factor (VEGF. These studies demonstrate that Wnt4 overexpression leads to dwarfism in mice. The data indicate that Wnt4 levels must be regulated in chondrocytes for normal growth plate development and skeletogenesis. Decreased VEGF expression suggests that defects in vascularization may contribute to the dwarf phenotype.

  13. Absence of serum growth hormone binding protein in patients with growth hormone receptor deficiency (Laron dwarfism)

    Energy Technology Data Exchange (ETDEWEB)

    Daughaday, W.H.; Trivedi, B.

    1987-07-01

    It has recently been recognized that human serum contains a protein that specifically binds human growth hormone (hGH). This protein has the same restricted specificity for hGH as the membrane-bound GH receptor. To determine whether the GH-binding protein is a derivative of, or otherwise related to, the GH receptor, the authors have examined the serum of three patients with Laron-type dwarfism, a condition in which GH refractoriness has been attributed to a defect in the GH receptor. The binding of /sup 125/I-labeled hGH incubated with serum has been measured after gel filtration of the serum through an Ultrogel AcA 44 minicolumn. Results are expressed as percent of specifically bound /sup 125/I-hGH and as specific binding relative to that of a reference serum after correction is made for endogenous GH. The mean +/- SEM of specific binding of sera from eight normal adults (26-46 years of age) was 21.6 +/- 0.45%, and the relative specific binding was 101.1 +/- 8.6%. Sera from 11 normal children had lower specific binding of 12.5 +/- 1.95% and relative specific binding of 56.6 +/- 9.1%. Sera from three children with Laron-type dwarfism lacked any demonstrable GH binding, whereas sera from 10 other children with other types of nonpituitary short stature had normal relative specific binding. They suggest that the serum GH-binding protein is a soluble derivative of the GH receptor. Measurement of the serum GH-binding protein may permit recognition of other abnormalities of the GH receptor.

  14. Adaptive Stress Response in Segmental Progeria Resembles Long-Lived Dwarfism and Calorie Restriction in Mice

    Science.gov (United States)

    Holcomb, Valerie B; von Lindern, Marieke; Jong, Willeke M. C; Zeeuw, Chris I. De; Suh, Yousin; Hasty, Paul; Hoeijmakers, Jan H. J; van der Horst, Gijsbertus T. J; Mitchell, James R

    2006-01-01

    How congenital defects causing genome instability can result in the pleiotropic symptoms reminiscent of aging but in a segmental and accelerated fashion remains largely unknown. Most segmental progerias are associated with accelerated fibroblast senescence, suggesting that cellular senescence is a likely contributing mechanism. Contrary to expectations, neither accelerated senescence nor acute oxidative stress hypersensitivity was detected in primary fibroblast or erythroblast cultures from multiple progeroid mouse models for defects in the nucleotide excision DNA repair pathway, which share premature aging features including postnatal growth retardation, cerebellar ataxia, and death before weaning. Instead, we report a prominent phenotypic overlap with long-lived dwarfism and calorie restriction during postnatal development (2 wk of age), including reduced size, reduced body temperature, hypoglycemia, and perturbation of the growth hormone/insulin-like growth factor 1 neuroendocrine axis. These symptoms were also present at 2 wk of age in a novel progeroid nucleotide excision repair-deficient mouse model (XPDG602D/R722W/XPA−/−) that survived weaning with high penetrance. However, despite persistent cachectic dwarfism, blood glucose and serum insulin-like growth factor 1 levels returned to normal by 10 wk, with hypoglycemia reappearing near premature death at 5 mo of age. These data strongly suggest changes in energy metabolism as part of an adaptive response during the stressful period of postnatal growth. Interestingly, a similar perturbation of the postnatal growth axis was not detected in another progeroid mouse model, the double-strand DNA break repair deficient Ku80 −/− mouse. Specific (but not all) types of genome instability may thus engage a conserved response to stress that evolved to cope with environmental pressures such as food shortage. PMID:17173483

  15. Absence of serum growth hormone binding protein in patients with growth hormone receptor deficiency (Laron dwarfism)

    International Nuclear Information System (INIS)

    Daughaday, W.H.; Trivedi, B.

    1987-01-01

    It has recently been recognized that human serum contains a protein that specifically binds human growth hormone (hGH). This protein has the same restricted specificity for hGH as the membrane-bound GH receptor. To determine whether the GH-binding protein is a derivative of, or otherwise related to, the GH receptor, the authors have examined the serum of three patients with Laron-type dwarfism, a condition in which GH refractoriness has been attributed to a defect in the GH receptor. The binding of 125 I-labeled hGH incubated with serum has been measured after gel filtration of the serum through an Ultrogel AcA 44 minicolumn. Results are expressed as percent of specifically bound 125 I-hGH and as specific binding relative to that of a reference serum after correction is made for endogenous GH. The mean +/- SEM of specific binding of sera from eight normal adults (26-46 years of age) was 21.6 +/- 0.45%, and the relative specific binding was 101.1 +/- 8.6%. Sera from 11 normal children had lower specific binding of 12.5 +/- 1.95% and relative specific binding of 56.6 +/- 9.1%. Sera from three children with Laron-type dwarfism lacked any demonstrable GH binding, whereas sera from 10 other children with other types of nonpituitary short stature had normal relative specific binding. They suggest that the serum GH-binding protein is a soluble derivative of the GH receptor. Measurement of the serum GH-binding protein may permit recognition of other abnormalities of the GH receptor

  16. Conditional Expression of Wnt4 during Chondrogenesis Leads to Dwarfism in Mice

    Science.gov (United States)

    Lee, Hu-Hui; Behringer, Richard R.

    2007-01-01

    Wnts are expressed in the forming long bones, suggesting roles in skeletogenesis. To examine the action of Wnts in skeleton formation, we developed a genetic system to conditionally express Wnt4 in chondrogenic tissues of the mouse. A mouse Wnt4 cDNA was introduced into the ubiquitously expressed Rosa26 (R26) locus by gene targeting in embryonic stem (ES) cells. The expression of Wnt4 from the R26 locus was blocked by a neomycin selection cassette flanked by loxP sites (floxneo) that was positioned between the Rosa26 promoter and the Wnt4 cDNA, creating the allele designated R26floxneoWnt4. Wnt4 expression was activated during chondrogenesis using Col2a1-Cre transgenic mice that express Cre recombinase in differentiating chondrocytes. R26floxneoWnt4; Col2a1-Cre double heterozygous mice exhibited a growth deficiency, beginning approximately 7 to 10 days after birth, that resulted in dwarfism. In addition, they also had craniofacial abnormalities, and delayed ossification of the lumbar vertebrae and pelvic bones. Histological analysis revealed a disruption in the organization of the growth plates and a delay in the onset of the primary and secondary ossification centers. Molecular studies showed that Wnt4 overexpression caused decreased proliferation and altered maturation of chondrocytes. In addition, R26floxneoWnt4; Col2a1-Cre mice had decreased expression of vascular endothelial growth factor (VEGF). These studies demonstrate that Wnt4 overexpression leads to dwarfism in mice. The data indicate that Wnt4 levels must be regulated in chondrocytes for normal growth plate development and skeletogenesis. Decreased VEGF expression suggests that defects in vascularization may contribute to the dwarf phenotype. PMID:17505543

  17. Dwarfism in homozygous Agc1CreERT mice is associated with decreased expression of aggrecan.

    Science.gov (United States)

    Rashid, Harunur; Chen, Haiyan; Hassan, Quamarul; Javed, Amjad

    2017-10-01

    Aggrecan (Acan), a large proteoglycan is abundantly expressed in cartilage tissue. Disruption of Acan gene causes dwarfism and perinatal lethality of homozygous mice. Because of sustained expression of Acan in the growth plate and articular cartilage, Agc Cre model has been developed for the regulated ablation of target gene in chondrocytes. In this model, the IRES-CreERT-Neo-pgk transgene is knocked-in the 3'UTR of the Acan gene. We consistently noticed variable weight and size among the Agc Cre littermates, prompting us to examine the cause of this phenotype. Wild-type, Cre-heterozygous (Agc +/Cre ), and Cre-homozygous (Agc Cre/Cre ) littermates were indistinguishable at birth. However, by 1-month, Agc Cre/Cre mice showed a significant reduction in body weight (18-27%) and body length (19-22%). Low body weight and dwarfism was sustained through adulthood and occurred in both genders. Compared with wild-type and Agc +/Cre littermates, long bones and vertebrae were shorter in Agc Cre/Cre mice. Histological analysis of Agc Cre/Cre mice revealed a significant reduction in the length of the growth plate and the thickness of articular cartilage. The amount of proteoglycan deposited in the cartilage of Agc Cre/Cre mice was nearly half of the WT littermates. Analysis of gene expression indicates impaired differentiation of chondrocyte in hyaline cartilage of Agc Cre/Cre mice. Notably, both Acan mRNA and protein was reduced by 50% in Agc Cre/Cre mice. A strong correlation was noted between the level of Acan mRNA and the body length. Importantly, Agc +/Cre mice showed no overt skeletal phenotype. Thus to avoid misinterpretation of data, only the Agc +/Cre mice should be used for conditional deletion of a target gene in the cartilage tissue. © 2017 Wiley Periodicals, Inc.

  18. Dwarfism and insulin resistance in male offspring caused by α1-adrenergic antagonism during pregnancy.

    Science.gov (United States)

    Oelkrug, Rebecca; Herrmann, Beate; Geissler, Cathleen; Harder, Lisbeth; Koch, Christiane; Lehnert, Hendrik; Oster, Henrik; Kirchner, Henriette; Mittag, Jens

    2017-10-01

    Maternal and environmental factors control the epigenetic fetal programming of the embryo, thereby defining the susceptibility for metabolic or endocrine disorders in the offspring. Pharmacological interventions required as a consequence of gestational problems, e.g. hypertension, can potentially interfere with correct fetal programming. As epigenetic alterations are usually only revealed later in life and not detected in studies focusing on early perinatal outcomes, little is known about the long-term epigenetic effects of gestational drug treatments. We sought to test the consequences of maternal α1-adrenergic antagonism during pregnancy, which can occur e.g. during hypertension treatment, for the endocrine and metabolic phenotype of the offspring. We treated C57BL/6NCrl female mice with the α1-adrenergic antagonist prazosin during pregnancy and analyzed the male and female offspring for endocrine and metabolic abnormalities. Our data revealed that maternal α1-adrenergic blockade caused dwarfism, elevated body temperature, and insulin resistance in male offspring, accompanied by reduced IGF-1 serum concentrations as the result of reduced hepatic growth hormone receptor (Ghr) expression. We subsequently identified increased CpG DNA methylation at the transcriptional start site of the alternative Ghr promotor caused by the maternal treatment, which showed a strong inverse correlation to hepatic Ghr expression. Our results demonstrate that maternal α1-adrenergic blockade can constitute an epigenetic cause for dwarfism and insulin resistance. The findings are of immediate clinical relevance as combined α/β-adrenergic blockers are first-line treatment of maternal hypertension. Copyright © 2017 The Authors. Published by Elsevier GmbH.. All rights reserved.

  19. A novel two-step method for screening shade tolerant mutant plants via dwarfism

    Directory of Open Access Journals (Sweden)

    Wei Li

    2016-10-01

    Full Text Available When subjected to shade, plants undergo rapid shoot elongation, which often makes them more prone to disease and mechanical damage. Shade-tolerant plants can be difficult to breed; however, they offer a substantial benefit over other varieties in low-light areas. Although perennial ryegrass (Lolium perenne L. is a popular species of turf grasses because of their good appearance and fast establishment, the plant normally does not perform well under shade conditions. It has been reported that, in turfgrass, induced dwarfism can enhance shade tolerance. Here we describe a two-step procedure for isolating shade tolerant mutants of perennial ryegrass by first screening for dominant dwarf mutants, and then screening dwarf plants for shade tolerance. The two-step screening process to isolate shade tolerant mutants can be done efficiently with limited space at early seedling stages, which enables quick and efficient isolation of shade tolerant mutants, and thus facilitates development of shade tolerant new cultivars of turfgrasses. Using the method, we isolated 136 dwarf mutants from 300,000 mutagenized seeds, with 65 being shade tolerant (0.022%. When screened directly for shade tolerance, we recovered only four mutants from a population of 150,000 (0.003% mutagenized seeds. One shade tolerant mutant, shadow-1, was characterized in detail. In addition to dwarfism, shadow-1 and its sexual progeny displayed high degrees of tolerance to both natural and artificial shade. We showed that endogenous gibberellin (GA content in shadow-1 was higher than wild-type controls, and shadow-1 was also partially GA insensitive. Our novel, simple and effective two-step screening method should be applicable to breeding shade tolerant cultivars of turfgrasses, ground covers, and other economically important crop plants that can be used under canopies of existing vegetation to increase productivity per unit area of land.

  20. Adaptive stress response in segmental progeria resembles long-lived dwarfism and calorie restriction in mice.

    Science.gov (United States)

    van de Ven, Marieke; Andressoo, Jaan-Olle; Holcomb, Valerie B; von Lindern, Marieke; Jong, Willeke M C; De Zeeuw, Chris I; Suh, Yousin; Hasty, Paul; Hoeijmakers, Jan H J; van der Horst, Gijsbertus T J; Mitchell, James R

    2006-12-15

    How congenital defects causing genome instability can result in the pleiotropic symptoms reminiscent of aging but in a segmental and accelerated fashion remains largely unknown. Most segmental progerias are associated with accelerated fibroblast senescence, suggesting that cellular senescence is a likely contributing mechanism. Contrary to expectations, neither accelerated senescence nor acute oxidative stress hypersensitivity was detected in primary fibroblast or erythroblast cultures from multiple progeroid mouse models for defects in the nucleotide excision DNA repair pathway, which share premature aging features including postnatal growth retardation, cerebellar ataxia, and death before weaning. Instead, we report a prominent phenotypic overlap with long-lived dwarfism and calorie restriction during postnatal development (2 wk of age), including reduced size, reduced body temperature, hypoglycemia, and perturbation of the growth hormone/insulin-like growth factor 1 neuroendocrine axis. These symptoms were also present at 2 wk of age in a novel progeroid nucleotide excision repair-deficient mouse model (XPD(G602D/R722W)/XPA(-/-)) that survived weaning with high penetrance. However, despite persistent cachectic dwarfism, blood glucose and serum insulin-like growth factor 1 levels returned to normal by 10 wk, with hypoglycemia reappearing near premature death at 5 mo of age. These data strongly suggest changes in energy metabolism as part of an adaptive response during the stressful period of postnatal growth. Interestingly, a similar perturbation of the postnatal growth axis was not detected in another progeroid mouse model, the double-strand DNA break repair deficient Ku80(-/-) mouse. Specific (but not all) types of genome instability may thus engage a conserved response to stress that evolved to cope with environmental pressures such as food shortage.

  1. Adaptive stress response in segmental progeria resembles long-lived dwarfism and calorie restriction in mice.

    Directory of Open Access Journals (Sweden)

    Marieke van de Ven

    2006-12-01

    Full Text Available How congenital defects causing genome instability can result in the pleiotropic symptoms reminiscent of aging but in a segmental and accelerated fashion remains largely unknown. Most segmental progerias are associated with accelerated fibroblast senescence, suggesting that cellular senescence is a likely contributing mechanism. Contrary to expectations, neither accelerated senescence nor acute oxidative stress hypersensitivity was detected in primary fibroblast or erythroblast cultures from multiple progeroid mouse models for defects in the nucleotide excision DNA repair pathway, which share premature aging features including postnatal growth retardation, cerebellar ataxia, and death before weaning. Instead, we report a prominent phenotypic overlap with long-lived dwarfism and calorie restriction during postnatal development (2 wk of age, including reduced size, reduced body temperature, hypoglycemia, and perturbation of the growth hormone/insulin-like growth factor 1 neuroendocrine axis. These symptoms were also present at 2 wk of age in a novel progeroid nucleotide excision repair-deficient mouse model (XPD(G602D/R722W/XPA(-/- that survived weaning with high penetrance. However, despite persistent cachectic dwarfism, blood glucose and serum insulin-like growth factor 1 levels returned to normal by 10 wk, with hypoglycemia reappearing near premature death at 5 mo of age. These data strongly suggest changes in energy metabolism as part of an adaptive response during the stressful period of postnatal growth. Interestingly, a similar perturbation of the postnatal growth axis was not detected in another progeroid mouse model, the double-strand DNA break repair deficient Ku80(-/- mouse. Specific (but not all types of genome instability may thus engage a conserved response to stress that evolved to cope with environmental pressures such as food shortage.

  2. A nonsense mutation in cGMP-dependent type II protein kinase (PRKG2) causes dwarfism in American Angus cattle.

    Science.gov (United States)

    Koltes, James E; Mishra, Bishnu P; Kumar, Dinesh; Kataria, Ranjit S; Totir, Liviu R; Fernando, Rohan L; Cobbold, Rowland; Steffen, David; Coppieters, Wouter; Georges, Michel; Reecy, James M

    2009-11-17

    Historically, dwarfism was the major genetic defect in U.S. beef cattle. Aggressive culling and sire testing were used to minimize its prevalence; however, neither of these practices can eliminate a recessive genetic defect. We assembled a 4-generation pedigree to identify the mutation underlying dwarfism in American Angus cattle. An adaptation of the Elston-Steward algorithm was used to overcome small pedigree size and missing genotypes. The dwarfism locus was fine-mapped to BTA6 between markers AFR227 and BM4311. Four candidate genes were sequenced, revealing a nonsense mutation in exon 15 of cGMP-dependant type II protein kinase (PRKG2). This C/T transition introduced a stop codon (R678X) that truncated 85 C-terminal amino acids, including a large portion of the kinase domain. Of the 75 mutations discovered in this region, only this mutation was 100% concordant with the recessive pattern of inheritance in affected and carrier individuals (log of odds score = 6.63). Previous research has shown that PRKG2 regulates SRY (sex-determining region Y) box 9 (SOX9)-mediated transcription of collagen 2 (COL2). We evaluated the ability of wild-type (WT) or R678X PRKG2 to regulate COL2 expression in cell culture. Real-time PCR results confirmed that COL2 is overexpressed in cells that overexpressed R678X PRKG2 as compared with WT PRKG2. Furthermore, COL2 and COL10 mRNA expression was increased in dwarf cattle compared with unaffected cattle. These experiments indicate that the R678X mutation is functional, resulting in a loss of PRKG2 regulation of COL2 and COL10 mRNA expression. Therefore, we present PRKG2 R678X as a causative mutation for dwarfism cattle.

  3. Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7

    OpenAIRE

    Leegwater, Peter A.; Vos-Loohuis, Manon; Ducro, Bart J.; Boegheim, Iris J.; van Steenbeek, Frank G.; Nijman, Isaac J.; Monroe, Glen R.; Bastiaansen, John W. M.; Dibbits, Bert W.; van de Goor, Leanne H.; Hellinga, Ids; Back, Willem; Schurink, Anouk

    2016-01-01

    Background Inbreeding and population bottlenecks in the ancestry of Friesian horses has led to health issues such as dwarfism. The limbs of dwarfs are short and the ribs are protruding inwards at the costochondral junction, while the head and back appear normal. A striking feature of the condition is the flexor tendon laxity that leads to hyperextension of the fetlock joints. The growth plates of dwarfs display disorganized and thickened chondrocyte columns. The aim of this study was to ident...

  4. Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7

    OpenAIRE

    Leegwater, Peter A.; Vos-Loohuis, Manon; Ducro, Bart J.; Boegheim, Iris J.; Bastiaansen, John W.M.; Dibbits, Bert W.; Schurink, Anouk

    2016-01-01

    Background: Inbreeding and population bottlenecks in the ancestry of Friesian horses has led to health issues such as dwarfism. The limbs of dwarfs are short and the ribs are protruding inwards at the costochondral junction, while the head and back appear normal. A striking feature of the condition is the flexor tendon laxity that leads to hyperextension of the fetlock joints. The growth plates of dwarfs display disorganized and thickened chondrocyte columns. The aim of this study was to iden...

  5. Short limbed dwarfism, genital hypoplasia, sparse hair, and vertebral anomalies: a variant of Ellis-van Creveld syndrome?

    Science.gov (United States)

    Fryns, J P; Moerman, P

    1993-01-01

    A male newborn with acromesomelic short limbed dwarfism, genital hypoplasia, and vertebral anomalies is reported. As the child had an important number of clinical and radiological symptoms seen in patients with Ellis-van Creveld syndrome, we raise the question of whether he may represent a variant example of this syndrome despite the absence of cardinal symptoms such as postaxial polydactyly and ectodermal changes (nail hypoplasia). Images PMID:8487282

  6. Short limbed dwarfism, genital hypoplasia, sparse hair, and vertebral anomalies: a variant of Ellis-van Creveld syndrome?

    OpenAIRE

    Fryns, J P; Moerman, P

    1993-01-01

    A male newborn with acromesomelic short limbed dwarfism, genital hypoplasia, and vertebral anomalies is reported. As the child had an important number of clinical and radiological symptoms seen in patients with Ellis-van Creveld syndrome, we raise the question of whether he may represent a variant example of this syndrome despite the absence of cardinal symptoms such as postaxial polydactyly and ectodermal changes (nail hypoplasia).

  7. Short beak and dwarfism syndrome (SBDS) of mule duck is caused by a distinct lineage of Goose parvovirus

    OpenAIRE

    Palya , Vilmos; Zolnai , Anna; Benyeda , Zsofia; Kovács , Edit; Kardi , Veronika; Mató , Tamás

    2009-01-01

    Abstract From early `70s till now numerous cases of ?short beak and dwarfism syndrome? have been reported in mule ducks from France. The animals showed strong growth retardation with smaller beak and tarsus. The syndrome was suggested to be caused by goose parvovirus on the basis of serological investigation, but the causative agent has not been isolated and the disease has not been reproduced by experimental infection so far. The aim of the present study was to characterize the vi...

  8. A novel mutation in the thyroglobulin gene that causes goiter and dwarfism in Wistar Hannover GALAS rats.

    Science.gov (United States)

    Sato, Akira; Abe, Kuniya; Yuzuriha, Misako; Fujii, Sakiko; Takahashi, Naofumi; Hojo, Hitoshi; Teramoto, Shoji; Aoyama, Hiroaki

    2014-04-01

    Outbred stocks of rats have been used extensively in biomedical, pharmaceutical and/or toxicological studies as a model of genetically heterogeneous human populations. One of such stocks is the Wistar Hannover GALAS rat. However, the colony of Wistar Hannover GALAS rat has been suspected of keeping a problematic mutation that manifests two distinct spontaneous abnormalities, goiter and dwarfism, which often confuses study results. We have successfully identified the responsible mutation, a guanine to thymine transversion at the acceptor site (3' end) of intron 6 in the thyroglobulin (Tg) gene (Tgc.749-1G>T), that induces a complete missing of exon 7 from the whole Tg transcript by mating experiments and subsequent molecular analyses. The following observations confirmed that Tgc.749-1G>T/Tgc.749-1G>T homozygotes manifested both dwarfism and goiter, while Tgc.749-1G>T/+ heterozygotes had only a goiter with normal appearance, suggesting that the mutant phenotypes inherit as an autosomal semi-dominant trait. The mutant phenotypes, goiter and dwarfism, mimicked those caused by typical endocrine disrupters attacking the thyroid. Hence a simple and reliable diagnostic methodology has been developed for genomic DNA-based genotyping of animals. The diagnostic methodology reported here would allow users of Wistar Hannover GALAS rats to evaluate their study results precisely by carefully interpreting the data obtained from Tgc.749-1G>T/+ heterozygotes having externally undetectable thyroidal lesions. Copyright © 2014 Elsevier B.V. All rights reserved.

  9. Elevated Fibroblast Growth Factor Signaling Is Critical for the Pathogenesis of the Dwarfism in Evc2/Limbin Mutant Mice.

    Science.gov (United States)

    Zhang, Honghao; Kamiya, Nobuhiro; Tsuji, Takehito; Takeda, Haruko; Scott, Greg; Rajderkar, Sudha; Ray, Manas K; Mochida, Yoshiyuki; Allen, Benjamin; Lefebvre, Veronique; Hung, Irene H; Ornitz, David M; Kunieda, Tetsuo; Mishina, Yuji

    2016-12-01

    Ellis-van Creveld (EvC) syndrome is a skeletal dysplasia, characterized by short limbs, postaxial polydactyly, and dental abnormalities. EvC syndrome is also categorized as a ciliopathy because of ciliary localization of proteins encoded by the two causative genes, EVC and EVC2 (aka LIMBIN). While recent studies demonstrated important roles for EVC/EVC2 in Hedgehog signaling, there is still little known about the pathophysiological mechanisms underlying the skeletal dysplasia features of EvC patients, and in particular why limb development is affected, but not other aspects of organogenesis that also require Hedgehog signaling. In this report, we comprehensively analyze limb skeletogenesis in Evc2 mutant mice and in cell and tissue cultures derived from these mice. Both in vivo and in vitro data demonstrate elevated Fibroblast Growth Factor (FGF) signaling in Evc2 mutant growth plates, in addition to compromised but not abrogated Hedgehog-PTHrP feedback loop. Elevation of FGF signaling, mainly due to increased Fgf18 expression upon inactivation of Evc2 in the perichondrium, critically contributes to the pathogenesis of limb dwarfism. The limb dwarfism phenotype is partially rescued by inactivation of one allele of Fgf18 in the Evc2 mutant mice. Taken together, our data uncover a novel pathogenic mechanism to understand limb dwarfism in patients with Ellis-van Creveld syndrome.

  10. Elevated Fibroblast Growth Factor Signaling Is Critical for the Pathogenesis of the Dwarfism in Evc2/Limbin Mutant Mice.

    Directory of Open Access Journals (Sweden)

    Honghao Zhang

    2016-12-01

    Full Text Available Ellis-van Creveld (EvC syndrome is a skeletal dysplasia, characterized by short limbs, postaxial polydactyly, and dental abnormalities. EvC syndrome is also categorized as a ciliopathy because of ciliary localization of proteins encoded by the two causative genes, EVC and EVC2 (aka LIMBIN. While recent studies demonstrated important roles for EVC/EVC2 in Hedgehog signaling, there is still little known about the pathophysiological mechanisms underlying the skeletal dysplasia features of EvC patients, and in particular why limb development is affected, but not other aspects of organogenesis that also require Hedgehog signaling. In this report, we comprehensively analyze limb skeletogenesis in Evc2 mutant mice and in cell and tissue cultures derived from these mice. Both in vivo and in vitro data demonstrate elevated Fibroblast Growth Factor (FGF signaling in Evc2 mutant growth plates, in addition to compromised but not abrogated Hedgehog-PTHrP feedback loop. Elevation of FGF signaling, mainly due to increased Fgf18 expression upon inactivation of Evc2 in the perichondrium, critically contributes to the pathogenesis of limb dwarfism. The limb dwarfism phenotype is partially rescued by inactivation of one allele of Fgf18 in the Evc2 mutant mice. Taken together, our data uncover a novel pathogenic mechanism to understand limb dwarfism in patients with Ellis-van Creveld syndrome.

  11. Trabecular bone microarchitecture analysis, a way for an early detection of genetic dwarfism? Case study of a dwarf mother's offspring.

    Science.gov (United States)

    Colombo, Antony; Hoogland, Menno; Coqueugniot, Hélène; Dutour, Olivier; Waters-Rist, Andrea

    2018-03-01

    A 66 year-old woman with a disproportionate dwarfism and who bore seven children was discovered at the Middenbeemster archaeological site (The Netherlands). Three are perinates and show no macroscopic or radiological evidence for a FGFR3 mutation causing hypo-or achondroplasia. This mutation induces dysfunction of the growth cartilage, leading to abnormalities in the development of trabecular bone. Because the mutation is autosomal dominant, these perinates have a 50% risk of having been affected. This study determines whether trabecular bone microarchitecture (TBMA) analysis is useful for detecting genetic dwarfism. Proximal metaphyses of humeri were μCT-scanned with a resolution of 7-12 μm. Three volumes of interest were segmented from each bone with TIVMI© software. The TBMA was quantified in BoneJ© using six parameters on which a multivariate analysis was then performed. Two of the Middenbeemster perinates show a quantitatively different TBMA organization. These results and the family's medical history suggest a diagnosis of genetic dwarfism for this two perinates. This study provides evidence to support the efficacy of μCT for diagnosing early-stage bone disease. Copyright © 2017 Elsevier Inc. All rights reserved.

  12. Elevated Fibroblast Growth Factor Signaling Is Critical for the Pathogenesis of the Dwarfism in Evc2/Limbin Mutant Mice

    Science.gov (United States)

    Zhang, Honghao; Kamiya, Nobuhiro; Tsuji, Takehito; Takeda, Haruko; Scott, Greg; Ray, Manas K.; Mochida, Yoshiyuki; Lefebvre, Veronique; Hung, Irene H.; Kunieda, Tetsuo; Mishina, Yuji

    2016-01-01

    Ellis-van Creveld (EvC) syndrome is a skeletal dysplasia, characterized by short limbs, postaxial polydactyly, and dental abnormalities. EvC syndrome is also categorized as a ciliopathy because of ciliary localization of proteins encoded by the two causative genes, EVC and EVC2 (aka LIMBIN). While recent studies demonstrated important roles for EVC/EVC2 in Hedgehog signaling, there is still little known about the pathophysiological mechanisms underlying the skeletal dysplasia features of EvC patients, and in particular why limb development is affected, but not other aspects of organogenesis that also require Hedgehog signaling. In this report, we comprehensively analyze limb skeletogenesis in Evc2 mutant mice and in cell and tissue cultures derived from these mice. Both in vivo and in vitro data demonstrate elevated Fibroblast Growth Factor (FGF) signaling in Evc2 mutant growth plates, in addition to compromised but not abrogated Hedgehog-PTHrP feedback loop. Elevation of FGF signaling, mainly due to increased Fgf18 expression upon inactivation of Evc2 in the perichondrium, critically contributes to the pathogenesis of limb dwarfism. The limb dwarfism phenotype is partially rescued by inactivation of one allele of Fgf18 in the Evc2 mutant mice. Taken together, our data uncover a novel pathogenic mechanism to understand limb dwarfism in patients with Ellis-van Creveld syndrome. PMID:28027321

  13. Issues on generating primordial anisotropies at the end of inflation

    Energy Technology Data Exchange (ETDEWEB)

    Emami, Razieh; Firouzjahi, Hassan, E-mail: emami@mail.ipm.ir, E-mail: firouz@mail.ipm.ir [School of Physics, Institute for Research in Fundamental Sciences (IPM), P.O. Box 19395-5531, Tehran (Iran, Islamic Republic of)

    2012-01-01

    We revisit the idea of generating primordial anisotropies at the end of inflation in models of inflation with gauge fields. To be specific we consider the charged hybrid inflation model where the waterfall field is charged under a U(1) gauge field so the surface of end of inflation is controlled both by inflaton and the gauge fields. Using δN formalism properly we find that the anisotropies generated at the end of inflation from the gauge field fluctuations are exponentially suppressed on cosmological scales. This is because the gauge field evolves exponentially during inflation while in order to generate appreciable anisotropies at the end of inflation the spectator gauge field has to be frozen. We argue that this is a generic feature, that is, one can not generate observable anisotropies at the end of inflation within an FRW background.

  14. Issues on generating primordial anisotropies at the end of inflation

    International Nuclear Information System (INIS)

    Emami, Razieh; Firouzjahi, Hassan

    2012-01-01

    We revisit the idea of generating primordial anisotropies at the end of inflation in models of inflation with gauge fields. To be specific we consider the charged hybrid inflation model where the waterfall field is charged under a U(1) gauge field so the surface of end of inflation is controlled both by inflaton and the gauge fields. Using δN formalism properly we find that the anisotropies generated at the end of inflation from the gauge field fluctuations are exponentially suppressed on cosmological scales. This is because the gauge field evolves exponentially during inflation while in order to generate appreciable anisotropies at the end of inflation the spectator gauge field has to be frozen. We argue that this is a generic feature, that is, one can not generate observable anisotropies at the end of inflation within an FRW background

  15. Sterile neutrinos, lepton asymmetries, primordial elements: How much of each?

    International Nuclear Information System (INIS)

    Chu Yizen; Cirelli, Marco

    2006-01-01

    We investigate quantitatively the extent to which having a primordial leptonic asymmetry (n ν ≠n ν ) relaxes the bounds on light sterile neutrinos imposed by BBN and LSS. We adopt a few assumptions that allow us to solve the neutrino evolution equations over a broad range of mixing parameters and asymmetries. For the general cases of sterile mixing with the electron or muon neutrino, we identify the regions that can be reopened. For the particular case of a LSND-like sterile neutrino, soon to be rejected or confirmed by MiniBooNE, we find that an asymmetry of the order of 10 -4 is needed to lift the conflicts with cosmology

  16. Primordial and Stellar Nucleosynthesis Chemical Evolution of Galaxies

    International Nuclear Information System (INIS)

    Chiosi, Cesare

    2010-01-01

    Following a brief introduction to early Universe cosmology, we present in some detail the results of primordial nucleosynthesis. Then we summarize the basic theory of nuclear reactions in stars and sketch the general rules of stellar evolution. We shortly review the subject of supernova explosions both by core collapse in massive stars (Type II) and carbon-deflagration in binary systems when one of the components is a White Dwarf accreting mass from the companion (Type Ia). We conclude the part dedicated to nucleosynthesis with elementary notions on the s- and r-process. Finally, we shortly address the topic of galactic chemical evolution and highlight some simple solutions aimed at understanding the main observational data on abundances and abundance ratios.

  17. Running-mass inflation model and primordial black holes

    International Nuclear Information System (INIS)

    Drees, Manuel; Erfani, Encieh

    2011-01-01

    We revisit the question whether the running-mass inflation model allows the formation of Primordial Black Holes (PBHs) that are sufficiently long-lived to serve as candidates for Dark Matter. We incorporate recent cosmological data, including the WMAP 7-year results. Moreover, we include ''the running of the running'' of the spectral index of the power spectrum, as well as the renormalization group ''running of the running'' of the inflaton mass term. Our analysis indicates that formation of sufficiently heavy, and hence long-lived, PBHs still remains possible in this scenario. As a by-product, we show that the additional term in the inflaton potential still does not allow significant negative running of the spectral index

  18. Lifting primordial non-Gaussianity above the noise

    International Nuclear Information System (INIS)

    Welling, Yvette; Woude, Drian van der; Pajer, Enrico

    2016-01-01

    Primordial non-Gaussianity (PNG) in Large Scale Structures is obfuscated by the many additional sources of non-linearity. Within the Effective Field Theory approach to Standard Perturbation Theory, we show that matter non-linearities in the bispectrum can be modeled sufficiently well to strengthen current bounds with near future surveys, such as Euclid. We find that the EFT corrections are crucial to this improvement in sensitivity. Yet, our understanding of non-linearities is still insufficient to reach important theoretical benchmarks for equilateral PNG, while, for local PNG, our forecast is more optimistic. We consistently account for the theoretical error intrinsic to the perturbative approach and discuss the details of its implementation in Fisher forecasts.

  19. The Primordial Role of Stories in Human Self-Creation

    Directory of Open Access Journals (Sweden)

    Arran Gare

    2007-08-01

    Full Text Available We now have a paradoxical situation where the place and status of stories is in decline within the humanities, while scientists are increasingly recognizing their importance. Here the attitude towards narratives of these scientists is defended. It is argued that stories play a primordial role in human self-creation, underpinning more abstract discourses such as mathematics, logic and science. To uphold the consistency of this claim, this thesis is defended by telling a story of the evolution of European culture from Ancient Greece to the present, including an account of the rise of the notion of culture and its relation to the development of history, thereby showing how stories function to justify beliefs, situate people as agents within history and orient them to create the future.

  20. The standard and degenerate primordial nucleosynthesis versus recent experimental data

    International Nuclear Information System (INIS)

    Esposito, S.; Mangano, G.; Miele, G.; Pisanti, O.

    2000-01-01

    We report the results on Big Bang Nucleosynthesis (BBN) based on an updated code, with accuracy of the order of 0.1% on He4 abundance, compared with the predictions of other recent similar analysis. We discuss the compatibility of the theoretical results, for vanishing neutrino chemical potentials, with the observational data. Bounds on the number of relativistic neutrinos and baryon abundance are obtained by a likelihood analysis. We also analyze the effect of large neutrino chemical potentials on primordial nucleosynthesis, motivated by the recent results on the Cosmic Microwave Background Radiation spectrum. The BBN exclusion plots for electron neutrino chemical potential and the effective number of relativistic neutrinos are reported. We find that the standard BBN seems to be only marginally in agreement with the recent BOOMERANG and MAXIMA-1 results, while the agreement is much better for degenerate BBN scenarios for large effective number of neutrinos, N ν ∼ 10. (author)

  1. Primordial Pb, radiogenic Pb and lunar soil maturity

    International Nuclear Information System (INIS)

    Reed, G.W. Jr.; Jovanovic, S.

    1978-01-01

    The soil maturity index I/sub s//FeO does not apply to either 204 Pb/sub r/ or C/sub hyd/; both are directly correlated with the submicron Fe 0 (I/sub s/) content. They act as an index of soil maturity which is independent of soil composition. In contrast to primordial Pb, radiogenic Pb is lost during soil maturation. Radiogenic Pb is present in mineral grains and may be lost by solar wind sputtering (or volatilization) and not resupplied. 204 Pb coating grain surfaces acts as a reservoir to provide the 204 Pb being extracted in the Fe 0 formation process. Venting or some other volatile source may replenish the surface 204 Pb. 1 figure

  2. Globular cluster seeding by primordial black hole population

    Energy Technology Data Exchange (ETDEWEB)

    Dolgov, A. [ITEP, Bol. Cheremushkinsaya ul., 25, 117218 Moscow (Russian Federation); Postnov, K., E-mail: dolgov@fe.infn.it, E-mail: kpostnov@gmail.com [Sternberg Astronomical Institute, Moscow M.V. Lomonosov State University, Universitetskij pr., 13, Moscow 119234 (Russian Federation)

    2017-04-01

    Primordial black holes (PBHs) that form in the early Universe in the modified Affleck-Dine (AD) mechanism of baryogenesis should have intrinsic log-normal mass distribution of PBHs. We show that the parameters of this distribution adjusted to provide the required spatial density of massive seeds (≥ 10{sup 4} M {sub ⊙}) for early galaxy formation and not violating the dark matter density constraints, predict the existence of the population of intermediate-mass PBHs with a number density of 0∼ 100 Mpc{sup −3}. We argue that the population of intermediate-mass AD PBHs can also seed the formation of globular clusters in galaxies. In this scenario, each globular cluster should host an intermediate-mass black hole with a mass of a few thousand solar masses, and should not obligatorily be immersed in a massive dark matter halo.

  3. Nonthermal production of dark matter from primordial black holes

    Science.gov (United States)

    Allahverdi, Rouzbeh; Dent, James; Osinski, Jacek

    2018-03-01

    We present a scenario for nonthermal production of dark matter from evaporation of primordial black holes. A period of very early matter domination leads to formation of black holes with a maximum mass of ≃2 ×108 g , whose subsequent evaporation prior to big bang nucleosynthesis can produce all of the dark matter in the Universe. We show that the correct relic abundance can be obtained in this way for thermally underproduced dark matter in the 100 GeV-10 TeV mass range. To achieve this, the scalar power spectrum at small scales relevant for black hole formation should be enhanced by a factor of O (105) relative to the scales accessible by the cosmic microwave background experiments.

  4. Nuclear Physics Solutions to the Primordial Lithium Problem

    Directory of Open Access Journals (Sweden)

    Williams E.

    2012-10-01

    Full Text Available The primordial lithium problem is one of the major outstanding issues in the standard model of the Big Bang. Measurements of the baryon to photon ratio in the cosmic microwave background constrain model predictions, giving abundances of 7Li two to four times larger than observed via spectroscopic measurements of metal-poor stars. In an attempt to reconcile this discrepancy, significant effort has been directed at measuring reaction cross sections of light nuclei at astrophysically relevant energies. However, there remain reaction cross sections with large uncertainties, and some that have not yet been measured. Particularly relevant are those involving the destruction of 7Be, a progenitor of 7Li. Key issues that can be improved by nuclear physics input will be highlighted, and the applicability of detectors and event reconstruction techniques recently developed at the ANU will be discussed.

  5. Lensing of 21-cm fluctuations by primordial gravitational waves.

    Science.gov (United States)

    Book, Laura; Kamionkowski, Marc; Schmidt, Fabian

    2012-05-25

    Weak-gravitational-lensing distortions to the intensity pattern of 21-cm radiation from the dark ages can be decomposed geometrically into curl and curl-free components. Lensing by primordial gravitational waves induces a curl component, while the contribution from lensing by density fluctuations is strongly suppressed. Angular fluctuations in the 21-cm background extend to very small angular scales, and measurements at different frequencies probe different shells in redshift space. There is thus a huge trove of information with which to reconstruct the curl component of the lensing field, allowing tensor-to-scalar ratios conceivably as small as r~10(-9)-far smaller than those currently accessible-to be probed.

  6. Effect of nuclear reaction rates on primordial abundances

    International Nuclear Information System (INIS)

    Mishra, Abhishek; Basu, D.N.

    2011-01-01

    The theoretical predictions of the primordial abundances of elements in the big-bang nucleosynthesis (BBN) are dominated by uncertainties in the input nuclear reaction rates. The effect of modifying these reaction rates on light element abundance yields in BBN by replacing the thirty-five reaction rates out of the existing eighty-eight has been investigated. Also the study have been taken of these yields as functions of evolution time or temperature. Here it has been found that using these new reaction rates results in only a little increase in helium mass fraction over that obtained previously in BBN calculations. This allows insights into the role of the nuclear reaction rates in the setting of the neutron-to-proton ratio during the BBN epoch. We observe that most of these nuclear reactions have minimal effect on the standard BBN abundance yields of 6 Li and 7 Li

  7. Primordial Black Holes from Supersymmetry in the Early Universe.

    Science.gov (United States)

    Cotner, Eric; Kusenko, Alexander

    2017-07-21

    Supersymmetric extensions of the standard model generically predict that in the early Universe a scalar condensate can form and fragment into Q balls before decaying. If the Q balls dominate the energy density for some period of time, the relatively large fluctuations in their number density can lead to formation of primordial black holes (PBH). Other scalar fields, unrelated to supersymmetry, can play a similar role. For a general charged scalar field, this robust mechanism can generate black holes over the entire mass range allowed by observational constraints, with a sufficient abundance to account for all dark matter in some parameter ranges. In the case of supersymmetry the mass range is limited from above by 10^{23}  g. We also comment on the role that topological defects can play for PBH formation in a similar fashion.

  8. One Percent Determination of the Primordial Deuterium Abundance

    Science.gov (United States)

    Cooke, Ryan J.; Pettini, Max; Steidel, Charles C.

    2018-03-01

    We report a reanalysis of a near-pristine absorption system, located at a redshift {z}abs}=2.52564 toward the quasar Q1243+307, based on the combination of archival and new data obtained with the HIRES echelle spectrograph on the Keck telescope. This absorption system, which has an oxygen abundance [O/H] = ‑2.769 ± 0.028 (≃1/600 of the solar abundance), is among the lowest metallicity systems currently known where a precise measurement of the deuterium abundance is afforded. Our detailed analysis of this system concludes, on the basis of eight D I absorption lines, that the deuterium abundance of this gas cloud is {log}}10({{D}}/{{H}})=-4.622+/- 0.015, which is in very good agreement with the results previously reported by Kirkman et al., but with an improvement on the precision of this single measurement by a factor of ∼3.5. Combining this new estimate with our previous sample of six high precision and homogeneously analyzed D/H measurements, we deduce that the primordial deuterium abundance is {log}}10{({{D}}/{{H}})}{{P}}=-4.5974+/- 0.0052 or, expressed as a linear quantity, {10}5{({{D}}/{{H}})}{{P}}=2.527+/- 0.030; this value corresponds to a one percent determination of the primordial deuterium abundance. Combining our result with a big bang nucleosynthesis (BBN) calculation that uses the latest nuclear physics input, we find that the baryon density derived from BBN agrees to within 2σ of the latest results from the Planck cosmic microwave background data. Based on observations collected at the W.M. Keck Observatory which is operated as a scientific partnership among the California Institute of Technology, the University of California, and the National Aeronautics and Space Administration. The Observatory was made possible by the generous financial support of the W.M. Keck Foundation.

  9. Cosmological cosmic rays: Sharpening the primordial lithium problem

    International Nuclear Information System (INIS)

    Prodanovic, Tijana; Fields, Brian D.

    2007-01-01

    Cosmic structure formation leads to large-scale shocked baryonic flows which are expected to produce a cosmological population of structure-formation cosmic rays (SFCRs). Interactions between SFCRs and ambient baryons will produce lithium isotopes via α+α→ 6,7 Li. This pre-galactic (but nonprimordial) lithium should contribute to the primordial 7 Li measured in halo stars and must be subtracted in order to arrive to the true observed primordial lithium abundance. In this paper we point out that the recent halo star 6 Li measurements can be used to place a strong constraint to the level of such contamination, because the exclusive astrophysical production of 6 Li is from cosmic-ray interactions. We find that the putative 6 Li plateau, if due to pre-galactic cosmic-ray interactions, implies that SFCR-produced lithium represents Li SFCR /Li plateau ≅15% of the observed elemental Li plateau. Taking the remaining plateau Li to be cosmological 7 Li, we find a revised (and slightly worsened) discrepancy between the Li observations and big bang nucleosynthesis predictions by a factor of 7 Li BBN / 7 Li plateau ≅3.7. Moreover, SFCRs would also contribute to the extragalactic gamma-ray background (EGRB) through neutral pion production. This gamma-ray production is tightly related to the amount of lithium produced by the same cosmic rays; the 6 Li plateau limits the pre-galactic (high-redshift) SFCR contribution to be at the level of I γ π SFCR /I EGRB < or approx. 5% of the currently observed EGRB

  10. Primordial nucleosynthesis as a probe of particle physics and cosmology

    International Nuclear Information System (INIS)

    Walker, T.P.

    1987-01-01

    In this dissertation, the author uses the success of the standard model of big-bang nucleosynthesis to examine the effects of interacting particle species and the effect of varying coupling constants, predicted by theories set in extra dimensions, on primordial nucleosynthesis. A review is given of the standard model and of the abundances of the light elements expected to be produced in the early Universe. The weakest piece of the concordance between the standard model of big-bang nucleosynthesis and observation is the production and primordial abundance of 7 Li. Therefore he discusses the production of 7 Li in astrophysical environments other than the early Universe and shows that the predictions of big-bang nucleosynthesis, when supplemented by those due to astrophysical sources, are in good agreement with observation. He then shows that the effect on big-bang nucleosynthesis of an additional particle species which remains coupled to either photons or light neutrinos can be quite different from that predicted by the equivalent number of neutrino species parameterization, which does work for decoupled additional species. In particular he considers the case of an additional axion-like particle and shows that its effect is to decrease the amount of 4 He produced in the big-bang. In addition, he considers the effects of varying coupling constants on 4 He production in the big-bang and shows that constraining Y p = 0.24 ± 0.01 leads to a constraint on the time variation of the fine-structure constant of |dln α/dt| ≤ x 10 -14

  11. Magnification bias as a novel probe for primordial magnetic fields

    International Nuclear Information System (INIS)

    Camera, S.; Fedeli, C.; Moscardini, L.

    2014-01-01

    In this paper we investigate magnetic fields generated in the early Universe. These fields are important candidates at explaining the origin of astrophysical magnetism observed in galaxies and galaxy clusters, whose genesis is still by and large unclear. Compared to the standard inflationary power spectrum, intermediate to small scales would experience further substantial matter clustering, were a cosmological magnetic field present prior to recombination. As a consequence, the bias and redshift distribution of galaxies would also be modified. Hitherto, primordial magnetic fields (PMFs) have been tested and constrained with a number of cosmological observables, e.g. the cosmic microwave background radiation, galaxy clustering and, more recently, weak gravitational lensing. Here, we explore the constraining potential of the density fluctuation bias induced by gravitational lensing magnification onto the galaxy-galaxy angular power spectrum. Such an effect is known as magnification bias. Compared to the usual galaxy clustering approach, magnification bias helps in lifting the pathological degeneracy present amongst power spectrum normalisation and galaxy bias. This is because magnification bias cross-correlates galaxy number density fluctuations of nearby objects with weak lensing distortions of high-redshift sources. Thus, it takes advantage of the gravitational deflection of light, which is insensitive to galaxy bias but powerful in constraining the density fluctuation amplitude. To scrutinise the potentiality of this method, we adopt a deep and wide-field spectroscopic galaxy survey. We show that magnification bias does contain important information on primordial magnetism, which will be useful in combination with galaxy clustering and shear. We find we shall be able to rule out at 95.4% CL amplitudes of PMFs larger than 5 × 10 −4 nG for values of the PMF power spectral index n B ∼ 0

  12. Primordial blackholes and gravitational waves for an inflection-point model of inflation

    Energy Technology Data Exchange (ETDEWEB)

    Choudhury, Sayantan [Physics and Applied Mathematics Unit, Indian Statistical Institute, 203 B.T. Road, Kolkata 700 108 (India); Mazumdar, Anupam [Consortium for Fundamental Physics, Physics Department, Lancaster University, LA1 4YB (United Kingdom)

    2014-06-02

    In this article we provide a new closed relationship between cosmic abundance of primordial gravitational waves and primordial blackholes that originated from initial inflationary perturbations for inflection-point models of inflation where inflation occurs below the Planck scale. The current Planck constraint on tensor-to-scalar ratio, running of the spectral tilt, and from the abundance of dark matter content in the universe, we can deduce a strict bound on the current abundance of primordial blackholes to be within a range, 9.99712×10{sup −3}<Ω{sub PBH}h{sup 2}<9.99736×10{sup −3}.

  13. Impact of stochastic primordial magnetic fields on the scalar contribution to cosmic microwave background anisotropies

    International Nuclear Information System (INIS)

    Finelli, Fabio; Paci, Francesco; Paoletti, Daniela

    2008-01-01

    We study the impact of a stochastic background of primordial magnetic fields on the scalar contribution of cosmic microwave background (CMB) anisotropies and on the matter power spectrum. We give the correct initial conditions for cosmological perturbations and the exact expressions for the energy density and Lorentz force associated to the stochastic background of primordial magnetic fields, given a power-law for their spectra cut at a damping scale. The dependence of the CMB temperature and polarization spectra on the relevant parameters of the primordial magnetic fields is illustrated.

  14. Primordial gravitational waves induced by magnetic fields in an ekpyrotic scenario

    Directory of Open Access Journals (Sweden)

    Asuka Ito

    2017-08-01

    Full Text Available Both inflationary and ekpyrotic scenarios can account for the origin of the large scale structure of the universe. It is often said that detecting primordial gravitational waves is the key to distinguish both scenarios. We show that this is not true if the gauge kinetic function is present in the ekpyrotic scenario. In fact, primordial gravitational waves sourced by the gauge field can be produced in an ekpyrotic universe. We also study scalar fluctuations sourced by the gauge field and show that it is negligible compared to primordial gravitational waves. This comes from the fact that the fast roll condition holds in ekpyrotic models.

  15. An MCMC determination of the primordial helium abundance

    Science.gov (United States)

    Aver, Erik; Olive, Keith A.; Skillman, Evan D.

    2012-04-01

    Spectroscopic observations of the chemical abundances in metal-poor H II regions provide an independent method for estimating the primordial helium abundance. H II regions are described by several physical parameters such as electron density, electron temperature, and reddening, in addition to y, the ratio of helium to hydrogen. It had been customary to estimate or determine self-consistently these parameters to calculate y. Frequentist analyses of the parameter space have been shown to be successful in these parameter determinations, and Markov Chain Monte Carlo (MCMC) techniques have proven to be very efficient in sampling this parameter space. Nevertheless, accurate determination of the primordial helium abundance from observations of H II regions is constrained by both systematic and statistical uncertainties. In an attempt to better reduce the latter, and continue to better characterize the former, we apply MCMC methods to the large dataset recently compiled by Izotov, Thuan, & Stasińska (2007). To improve the reliability of the determination, a high quality dataset is needed. In pursuit of this, a variety of cuts are explored. The efficacy of the He I λ4026 emission line as a constraint on the solutions is first examined, revealing the introduction of systematic bias through its absence. As a clear measure of the quality of the physical solution, a χ2 analysis proves instrumental in the selection of data compatible with the theoretical model. Nearly two-thirds of the observations fall outside a standard 95% confidence level cut, which highlights the care necessary in selecting systems and warrants further investigation into potential deficiencies of the model or data. In addition, the method also allows us to exclude systems for which parameter estimations are statistical outliers. As a result, the final selected dataset gains in reliability and exhibits improved consistency. Regression to zero metallicity yields Yp = 0.2534 ± 0.0083, in broad agreement

  16. An MCMC determination of the primordial helium abundance

    International Nuclear Information System (INIS)

    Aver, Erik; Olive, Keith A.; Skillman, Evan D.

    2012-01-01

    Spectroscopic observations of the chemical abundances in metal-poor H II regions provide an independent method for estimating the primordial helium abundance. H II regions are described by several physical parameters such as electron density, electron temperature, and reddening, in addition to y, the ratio of helium to hydrogen. It had been customary to estimate or determine self-consistently these parameters to calculate y. Frequentist analyses of the parameter space have been shown to be successful in these parameter determinations, and Markov Chain Monte Carlo (MCMC) techniques have proven to be very efficient in sampling this parameter space. Nevertheless, accurate determination of the primordial helium abundance from observations of H II regions is constrained by both systematic and statistical uncertainties. In an attempt to better reduce the latter, and continue to better characterize the former, we apply MCMC methods to the large dataset recently compiled by Izotov, Thuan, and Stasińska (2007). To improve the reliability of the determination, a high quality dataset is needed. In pursuit of this, a variety of cuts are explored. The efficacy of the He I λ4026 emission line as a constraint on the solutions is first examined, revealing the introduction of systematic bias through its absence. As a clear measure of the quality of the physical solution, a χ 2 analysis proves instrumental in the selection of data compatible with the theoretical model. Nearly two-thirds of the observations fall outside a standard 95% confidence level cut, which highlights the care necessary in selecting systems and warrants further investigation into potential deficiencies of the model or data. In addition, the method also allows us to exclude systems for which parameter estimations are statistical outliers. As a result, the final selected dataset gains in reliability and exhibits improved consistency. Regression to zero metallicity yields Y p = 0.2534 ± 0.0083, in broad

  17. Dwarfism and feeding behaviours in Oligo–Miocene crocodiles from Riversleigh, northwestern Queensland, Australia

    Directory of Open Access Journals (Sweden)

    Michael Stein

    2016-02-01

    Full Text Available Instances of dwarfism in the fossil record are of interest to palaeontologists because they often provide insight into aspects of palaeoecology. Fossil species of Australian-Pacific mekosuchine genus Mekosuchus have been described as dwarf, primarily terrestrial crocodiles, in contrast with the nearly ubiquitous semi-aquatic habitus of extant crocodilians (Willis 1997. This hypothesis has been difficult to test because of limited knowledge of the cranial and postcranial skeleton of extinct taxa and the continuous nature of crocodilian growth. New crocodilian vertebral material from Riversleigh, northwestern Queensland, tentatively referred to Mekosuchus whitehunterensis Willis, 1997, displays morphological maturity indicative of adult snout-vent length little over a half-meter, proportionally smaller than extant dwarf taxa. Further, this material displays morphology that indicates a relatively large epaxial neck musculature for its body-size. These attributes suggest this dwarf mekosuchine employed unusual feeding behaviours. The ability to perform normal death-roll, de-fleshing behaviours would be limited in a mekosuchine of such small size. Given the powerful neck muscles and other anatomical features, it is more likely that this mekosuchine killed and/or dismembered its prey using a relatively forceful lifting and shaking of the head.

  18. Smad6/Smurf1 overexpression in cartilage delays chondrocyte hypertrophy and causes dwarfism with osteopenia

    Science.gov (United States)

    Horiki, Mitsuru; Imamura, Takeshi; Okamoto, Mina; Hayashi, Makoto; Murai, Junko; Myoui, Akira; Ochi, Takahiro; Miyazono, Kohei; Yoshikawa, Hideki; Tsumaki, Noriyuki

    2004-01-01

    Biochemical experiments have shown that Smad6 and Smad ubiquitin regulatory factor 1 (Smurf1) block the signal transduction of bone morphogenetic proteins (BMPs). However, their in vivo functions are largely unknown. Here, we generated transgenic mice overexpressing Smad6 in chondrocytes. Smad6 transgenic mice showed postnatal dwarfism with osteopenia and inhibition of Smad1/5/8 phosphorylation in chondrocytes. Endochondral ossification during development in these mice was associated with almost normal chondrocyte proliferation, significantly delayed chondrocyte hypertrophy, and thin trabecular bone. The reduced population of hypertrophic chondrocytes after birth seemed to be related to impaired bone growth and formation. Organ culture of cartilage rudiments showed that chondrocyte hypertrophy induced by BMP2 was inhibited in cartilage prepared from Smad6 transgenic mice. We then generated transgenic mice overexpressing Smurf1 in chondrocytes. Abnormalities were undetectable in Smurf1 transgenic mice. Mating Smad6 and Smurf1 transgenic mice produced double-transgenic pups with more delayed endochondral ossification than Smad6 transgenic mice. These results provided evidence that Smurf1 supports Smad6 function in vivo. PMID:15123739

  19. Small body size and extreme cortical bone remodeling indicate phyletic dwarfism in Magyarosaurus dacus (Sauropoda: Titanosauria).

    Science.gov (United States)

    Stein, Koen; Csiki, Zoltan; Rogers, Kristina Curry; Weishampel, David B; Redelstorff, Ragna; Carballido, Jose L; Sander, P Martin

    2010-05-18

    Sauropods were the largest terrestrial tetrapods (>10(5) kg) in Earth's history and grew at rates that rival those of extant mammals. Magyarosaurus dacus, a titanosaurian sauropod from the Upper Cretaceous (Maastrichtian) of Romania, is known exclusively from small individuals (dwarfism (phyletic nanism) in dinosaurs, but a recent study suggested that the small Romanian titanosaurs actually represent juveniles of a larger-bodied taxon. Here we present strong histological evidence that M. dacus was indeed a dwarf (phyletic nanoid). Bone histological analysis of an ontogenetic series of Magyarosaurus limb bones indicates that even the smallest Magyarosaurus specimens exhibit a bone microstructure identical to fully mature or old individuals of other sauropod taxa. Comparison of histologies with large-bodied sauropods suggests that Magyarosaurus had an extremely reduced growth rate, but had retained high basal metabolic rates typical for sauropods. The uniquely decreased growth rate and diminutive body size in Magyarosaurus were adaptations to life on a Cretaceous island and show that sauropod dinosaurs were not exempt from general ecological principles limiting body size.

  20. Selection of male-sterile and dwarfism genetically modified zoysia japonica through gamma irradiation

    Energy Technology Data Exchange (ETDEWEB)

    Bae, Tae Woong; Song, In Ja; Kang, Hong Gyu; Jeong, Ok Cheol; Sun, Hyeon Jin; Ko, Suk Min; Lim, Pyung Ok; Song, Pill Soon; Song, Sung Jun; Lee, Hyo Yeon [Jeju National University, Jeju (Korea, Republic of)

    2010-09-15

    The aim of this study is selection of the male-sterile plant for inhibiting transgene flow through gamma-irradiation ({sup 60}Co) at the pollination and fertilization cycle of herbicide-tolerant genetically modified (GM) zoysiagrass (Zoysia japonica Steud.). High frequencies of plant mutations were obtained about 18% from M{sub 1} generation at the doses (10 to 50 Gy). We also found that some M{sub 1} plants showed male-sterile plants using de-husked seeds and comparison of stainable pollen using KI-I{sub 2} solution. Besides the effects of irradiation on pollination and fertilization cycle, various other mutation like dwarf, cold tolerance, increasing grains and mass were observed. Four of dwarfism plants were selected through comparison of morphological characteristic between control and mutants during 4 years. These results demonstrated that the gamma-irradiation on pollination and fertilization cycle is very effective to induce the various mutations, and the male-sterile mutants are useful for controlling transgene flow and developing of high quality turfgasses.

  1. RB1CC1 Protein Suppresses Type II Collagen Synthesis in Chondrocytes and Causes Dwarfism*

    Science.gov (United States)

    Nishimura, Ichiro; Chano, Tokuhiro; Kita, Hiroko; Matsusue, Yoshitaka; Okabe, Hidetoshi

    2011-01-01

    RB1-inducible coiled-coil 1 (RB1CC1) functions in various processes, such as cell growth, differentiation, senescence, apoptosis, and autophagy. The conditional transgenic mice with cartilage-specific RB1CC1 excess that were used in the present study were made for the first time by the Cre-loxP system. Cartilage-specific RB1CC1 excess caused dwarfism in mice without causing obvious abnormalities in endochondral ossification and subsequent skeletal development from embryo to adult. In vitro and in vivo analysis revealed that the dwarf phenotype in cartilaginous RB1CC1 excess was induced by reductions in the total amount of cartilage and the number of cartilaginous cells, following suppressions of type II collagen synthesis and Erk1/2 signals. In addition, we have demonstrated that two kinds of SNPs (T-547C and C-468T) in the human RB1CC1 promoter have significant influence on the self-transcriptional level. Accordingly, human genotypic variants of RB1CC1 that either stimulate or inhibit RB1CC1 transcription in vivo may cause body size variations. PMID:22049074

  2. Epigenetic aging signatures in mice livers are slowed by dwarfism, calorie restriction and rapamycin treatment.

    Science.gov (United States)

    Wang, Tina; Tsui, Brian; Kreisberg, Jason F; Robertson, Neil A; Gross, Andrew M; Yu, Michael Ku; Carter, Hannah; Brown-Borg, Holly M; Adams, Peter D; Ideker, Trey

    2017-03-28

    Global but predictable changes impact the DNA methylome as we age, acting as a type of molecular clock. This clock can be hastened by conditions that decrease lifespan, raising the question of whether it can also be slowed, for example, by conditions that increase lifespan. Mice are particularly appealing organisms for studies of mammalian aging; however, epigenetic clocks have thus far been formulated only in humans. We first examined whether mice and humans experience similar patterns of change in the methylome with age. We found moderate conservation of CpG sites for which methylation is altered with age, with both species showing an increase in methylome disorder during aging. Based on this analysis, we formulated an epigenetic-aging model in mice using the liver methylomes of 107 mice from 0.2 to 26.0 months old. To examine whether epigenetic aging signatures are slowed by longevity-promoting interventions, we analyzed 28 additional methylomes from mice subjected to lifespan-extending conditions, including Prop1 df/df dwarfism, calorie restriction or dietary rapamycin. We found that mice treated with these lifespan-extending interventions were significantly younger in epigenetic age than their untreated, wild-type age-matched controls. This study shows that lifespan-extending conditions can slow molecular changes associated with an epigenetic clock in mice livers.

  3. Selection of male-sterile and dwarfism genetically modified zoysia japonica through gamma irradiation

    International Nuclear Information System (INIS)

    Bae, Tae Woong; Song, In Ja; Kang, Hong Gyu; Jeong, Ok Cheol; Sun, Hyeon Jin; Ko, Suk Min; Lim, Pyung Ok; Song, Pill Soon; Song, Sung Jun; Lee, Hyo Yeon

    2010-01-01

    The aim of this study is selection of the male-sterile plant for inhibiting transgene flow through gamma-irradiation ( 60 Co) at the pollination and fertilization cycle of herbicide-tolerant genetically modified (GM) zoysiagrass (Zoysia japonica Steud.). High frequencies of plant mutations were obtained about 18% from M 1 generation at the doses (10 to 50 Gy). We also found that some M 1 plants showed male-sterile plants using de-husked seeds and comparison of stainable pollen using KI-I 2 solution. Besides the effects of irradiation on pollination and fertilization cycle, various other mutation like dwarf, cold tolerance, increasing grains and mass were observed. Four of dwarfism plants were selected through comparison of morphological characteristic between control and mutants during 4 years. These results demonstrated that the gamma-irradiation on pollination and fertilization cycle is very effective to induce the various mutations, and the male-sterile mutants are useful for controlling transgene flow and developing of high quality turfgasses

  4. Physical basis behind achondroplasia, the most common form of human dwarfism.

    Science.gov (United States)

    He, Lijuan; Horton, William; Hristova, Kalina

    2010-09-24

    Fibroblast growth factor receptor 3 (FGFR3) is a receptor tyrosine kinase that plays an important role in long bone development. The G380R mutation in FGFR3 transmembrane domain is known as the genetic cause for achondroplasia, the most common form of human dwarfism. Despite many studies, there is no consensus about the exact mechanism underlying the pathology. To gain further understanding into the physical basis behind the disorder, here we measure the activation of wild-type and mutant FGFR3 in mammalian cells using Western blots, and we analyze the activation within the frame of a physical-chemical model describing dimerization, ligand binding, and phosphorylation probabilities within the dimers. The data analysis presented here suggests that the mutation does not increase FGFR3 dimerization, as proposed previously. Instead, FGFR3 activity in achondroplasia is increased due to increased probability for phosphorylation of the unliganded mutant dimers. This finding has implications for the design of targeted molecular treatments for achondroplasia.

  5. Tyrosine kinase inhibitor NVP-BGJ398 functionally improves FGFR3-related dwarfism in mouse model.

    Science.gov (United States)

    Komla-Ebri, Davide; Dambroise, Emilie; Kramer, Ina; Benoist-Lasselin, Catherine; Kaci, Nabil; Le Gall, Cindy; Martin, Ludovic; Busca, Patricia; Barbault, Florent; Graus-Porta, Diana; Munnich, Arnold; Kneissel, Michaela; Di Rocco, Federico; Biosse-Duplan, Martin; Legeai-Mallet, Laurence

    2016-05-02

    Achondroplasia (ACH) is the most frequent form of dwarfism and is caused by gain-of-function mutations in the fibroblast growth factor receptor 3-encoding (FGFR3-encoding) gene. Although potential therapeutic strategies for ACH, which aim to reduce excessive FGFR3 activation, have emerged over many years, the use of tyrosine kinase inhibitor (TKI) to counteract FGFR3 hyperactivity has yet to be evaluated. Here, we have reported that the pan-FGFR TKI, NVP-BGJ398, reduces FGFR3 phosphorylation and corrects the abnormal femoral growth plate and calvaria in organ cultures from embryos of the Fgfr3Y367C/+ mouse model of ACH. Moreover, we demonstrated that a low dose of NVP-BGJ398, injected subcutaneously, was able to penetrate into the growth plate of Fgfr3Y367C/+ mice and modify its organization. Improvements to the axial and appendicular skeletons were noticeable after 10 days of treatment and were more extensive after 15 days of treatment that started from postnatal day 1. Low-dose NVP-BGJ398 treatment reduced intervertebral disc defects of lumbar vertebrae, loss of synchondroses, and foramen-magnum shape anomalies. NVP-BGJ398 inhibited FGFR3 downstream signaling pathways, including MAPK, SOX9, STAT1, and PLCγ, in the growth plates of Fgfr3Y367C/+ mice and in cultured chondrocyte models of ACH. Together, our data demonstrate that NVP-BGJ398 corrects pathological hallmarks of ACH and support TKIs as a potential therapeutic approach for ACH.

  6. Mode of inheritance of irradiation induced dwarfism and male sterility in the tomato, Lycopersicon esculentum

    International Nuclear Information System (INIS)

    Garofalo, J.F.

    1975-01-01

    Seedlings of the Louisiana tomato cultivar ''Pelican'' were irradiated in the cotyledonary stage with 10,000 roentgen (R) of gamma radiation from 60 Co at 1.67 R/min by Dr. Milton J. Constantin, Comparative Animal Research Laboratory operated by the University of Tennessee for the Atomic Energy Commission. From these irradiated plants one dwarf and six stamenless mutants were selected and propagated. In 1973 to 1974 a genetic study was conducted to determine the mode of inheritance of these mutant characters. Also a combining ability study was conducted to determine the potential value of the dwarf mutant as a parent in the production of F 1 hybrid seed. The results of the genetic study showed that the induced dwarf character was simply inherited and recessive. Results indicate that this gene is probably located at a locus different from that of genes controlling dwarfism in other tomato lines. The combining ability study showed that this dwarf mutant is of little value as a breeding parent. The genetic study of the stamenless lines showed this character to be simply inherited and recessive. It was also shown that the gene controlling male sterility is located at the same locus in the lines L 39 and L 43, and it is assumed that the same locus is involved in all six lines. The stamenless lines have, as far as has been observed, retained the good combining ability of the original parent cultivar ''Pelican''

  7. Midterm Survivorship and Complications of Total Knee Arthroplasty in Patients With Dwarfism.

    Science.gov (United States)

    Tan, Timothy L; Kheir, Michael M; Modi, Ronuk; Chen, Chi-Lung; Shao, Hongyi; Chen, Antonia F

    2017-11-01

    Dwarfism is associated with skeletal dysplasias and joint deformities that frequently result in osteoarthritis requiring treatment with total knee arthroplasty (TKA). These surgeries can be challenging because of alignment deformities, poor bone stock, and smaller components. This study aims to compare TKA implant survivorship and complications between dwarf and nondwarf patients. A retrospective case-control study was performed from 1997-2014 evaluating 115 TKAs in patients under the height threshold of 147.32 cm. This cohort was compared with 164 patients of normal height. Medical records were reviewed for demographics, surgical characteristics, and outcomes. All cases had 2-year minimum follow-up. The revision rate was 8.7% in dwarfs compared with 3.7% in controls (P = .08). The 2-, 5-, and 10-year implant survivorship in dwarfs was 96.4%, 92.5%, and 90.2%, respectively; and 96.6%, 95.6%, and 94.8% for controls, respectively (P = .24). Dwarfs underwent significantly more manipulations for arthrofibrosis (P = .002). There was greater femoral (17.4% vs 2.1%, P manipulation; the increased propensity for stiffness may be associated with oversized components, as evidenced by greater component overhang. Surgeons should be aware of this increased risk and may consider using smaller or customized implants to account for the morphological differences in this patient population. Copyright © 2017 Elsevier Inc. All rights reserved.

  8. Forensic and family psychiatry in abuse dwarfism: Munchausen's syndrome by proxy, atonement, and addiction to abuse.

    Science.gov (United States)

    Money, J; Annecillo, C; Hutchison, J W

    1985-01-01

    The syndrome of abuse dwarfism is characterized by gross impairment of statural and intellectual growth and social maturation while the abused child remains in the domicile of abuse. The parents collude as child abusers, and are medical impostors regarding the symptoms of abuse. The syndrome as a whole is appropriately named Munchausen's syndrome by proxy. Though the mother typically initiates abuse, she cannot give a rational explanation for doing so. In her own history there is a sin that is expiated or atoned for symbolically by the sacrifice of the child--explainable in terms of the theory of opponent-process learning. In the two cases presented, the sin was the mother's own birth out of wedlock, in one case as a sequel to incest. The child's addiction to abuse is a challenge to the program of rehabilitation. With respect to parents at risk, the data of this paper are relevant to the prevention of a predisposition toward, or the actual implementation of child abuse, though a program of prevention needs still to be formulated. The sexological relevance of this paper is that the data demonstrate that the effects of sexual abuse may be transmitted to the next generation and manifested as child abuse which is not necessarily sexual in content.

  9. Production of high stellar-mass primordial black holes in trapped inflation

    Energy Technology Data Exchange (ETDEWEB)

    Cheng, Shu-Lin; Lee, Wolung [Department of Physics, National Taiwan Normal University,Taipei 11677, Taiwan (China); Ng, Kin-Wang [Institute of Physics, Academia Sinica,Taipei 11529, Taiwan (China); Institute of Astronomy and Astrophysics, Academia Sinica,Taipei 11529, Taiwan (China)

    2017-02-01

    Trapped inflation has been proposed to provide a successful inflation with a steep potential. We discuss the formation of primordial black holes in the trapped inflationary scenario. We show that primordial black holes are naturally produced during inflation with a steep trapping potential. In particular, we have given a recipe for an inflaton potential with which particle production can induce large non-Gaussian curvature perturbation that leads to the formation of high stellar-mass primordial black holes. These primordial black holes could be dark matter observed by the LIGO detectors through a binary black-hole merger. At the end, we have given an attempt to realize the required inflaton potential in the axion monodromy inflation, and discussed the gravitational waves sourced by the particle production.

  10. Follistatin288 Regulates Germ Cell Cyst Breakdown and Primordial Follicle Assembly in the Mouse Ovary.

    Directory of Open Access Journals (Sweden)

    Zhengpin Wang

    Full Text Available In mammals, the primordial follicle pool represents the entire reproductive potential of a female. The transforming growth factor-β (TGF-β family member activin (ACT contributes to folliculogenesis, although the exact mechanism is not known. The role of FST288, the strongest ACT-neutralizing isoform of follistatin (FST, during cyst breakdown and primordial follicle formation in the fetal mice ovary was assessed using an in vitro culture system. FST was continuously expressed in the oocytes as well as the cuboidal granulosa cells of growing follicles in perinatal mouse ovaries. Treatment with FST288 delayed germ cell nest breakdown, particularly near the periphery of the ovary, and dramatically decreased the percentage of primordial follicles. In addition, there was a dramatic decrease in proliferation of granulosa cells and somatic cell expression of Notch signaling was impaired. In conclusion, FST288 impacts germ cell nest breakdown and primordial follicle assembly by inhibiting somatic cell proliferation.

  11. The Effect of Aqueous Alteration on Primordial Noble Gases in CM Chondrites

    Science.gov (United States)

    Weimer, D.; Busemann, H.; Alexander, C. M. O'D.; Maden, C.

    2017-07-01

    We have analyzed 32 CM chondrites for their noble gas contents and isotopic compositions and calculated CRE ages. Correlated effects of parent body aqueous alteration with primordial noble gas contents were detected.

  12. Ultrastructure of Sheep Primordial Follicles Cultured in the Presence of Indol Acetic Acid, EGF, and FSH

    Directory of Open Access Journals (Sweden)

    Evelyn Rabelo Andrade

    2011-01-01

    Full Text Available The aim of this study was to investigate the ultrastructural characteristics of primordial follicles after culturing of sheep ovarian cortical slices in the presence of indol acetic acid (IAA, Epidermal Growth Factor (EGF, and FSH. To evaluate ultrastructure of primordial follicles cultured in MEM (control or in MEM containing IAA, EGF, and FSH, fragments of cultured tissue were processes for transmission electron microscopy. Except in the control, primordial follicles cultured in supplemented media for 6 d were ultrastructurally normal. They had oocyte with intact nucleus and the cytoplasm contained heterogeneous-sized lipid droplets and numerous round or elongated mitochondria with intact parallel cristae were observed. Rough endoplasmic reticulum (RER was rarely found. The granulosa cells cytoplasm contained a great number of mitochondria and abundant RER. In conclusion, the presence of IAA, EGF, and FSH helped to maintain ultrastructural integrity of sheep primordial follicles cultured in vitro.

  13. Primordial nucleosynthesis in inhomogeneous cosmologies: Ω = 1 with baryonic dark matter

    International Nuclear Information System (INIS)

    Mathews, G.J.; Sale, K.E.

    1986-09-01

    We consider the constraints on Ω from primordial nucleosynthesis in inhomogeneous cosmologies. We find that allowance for isothermal fluctuations significantly weakens the upper bound on the average value of Ω derived from the standard big bang. Under the plausible additional assumption that regions of high baryon density are preferentially absorbed into cold dark matter, the constraints from primordial nucleosynthesis can be satisfied for large values of Ω, including Ω = 1. 22 refs., 2 figs

  14. Primordial lithium: New reaction rates, new abundances, new constraints

    International Nuclear Information System (INIS)

    Kawano, L.; Schramm, D.; Steigman, G.

    1986-12-01

    Newly measured nuclear reaction rates for 3 H(α,γ) 7 Li (higher than previous values) and 7 Li(p,α) 4 He (lower than previous values) are shown to increase the 7 Li yield from big bang nucleosynthesis for lower baryon to photon ratio (eta ≤ 4 x 10 -10 ); the yield for higher eta is not affected. New, independent determinations of Li abundances in extreme Pop II stars are in excellent agreement with the earlier work of the Spites and give continued confidence in the use of 7 Li in big bang baryon density determinations. The new 7 Li constraints imply a lower limit on eta of 2 x 10 -10 and an upper limit of 5 x 10 -10 . This lower limit to eta is concordant with that obtained from considerations of D + 3 He. The upper limit is consistent with, but even more restrictive than, the D bound. With the new rates, any observed primordial Li/H ratio below 10 -10 would be inexplicable by the standard big bang nucleosynthesis. A review is made of the strengths and possible weaknesses of utilizing conclusions drawn from big bang lithium considerations. An appendix discusses the null effect of a factor of 32 increase in the experimental rate for the D(d,γ) 4 He reaction. 28 refs., 1 fig

  15. Primordial black holes from single field models of inflation

    CERN Document Server

    Garcia-Bellido, Juan

    Primordial black holes (PBH) have been shown to arise from high peaks in the matter power spectra of multi-field models of inflation. Here we show, with a simple toy model, that it is also possible to generate a peak in the curvature power spectrum of single-field inflation. We assume that the effective dynamics of the inflaton field presents a near-inflection point which slows down the field right before the end of inflation and gives rise to a prominent spike in the fluctuation power spectrum at scales much smaller than those probed by Cosmic Microwave Background (CMB) and Large Scale Structure (LSS) observations. This peak will give rise, upon reentry during the radiation era, to PBH via gravitational collapse. The mass and abundance of these PBH is such that they could constitute the totality of the Dark Matter today. We satisfy all CMB and LSS constraints and predict a very broad range of PBH masses. Some of these PBH are light enough that they will evaporate before structure formation, leaving behind a ...

  16. Gravitational wave bursts from Primordial Black Hole hyperbolic encounters

    CERN Document Server

    Garcia-Bellido, Juan

    2017-01-01

    We propose that Gravitational Wave (GW) bursts with millisecond durations can be explained by the GW emission from the hyperbolic encounters of Primordial Black Holes in dense clusters. These bursts are single events, with the bulk of the released energy happening during the closest approach, and emitted in frequencies within the AdvLIGO sensitivity range. We provide expressions for the shape of the GW emission in terms of the peak frequency and amplitude, and estimate the rates of these events for a variety of mass and velocity configurations. We study the regions of parameter space that will allow detection by both AdvLIGO and, in the future, LISA. We find for realistic configurations, with total mass M∼60 M⊙, relative velocities v∼0.01c, and impact parameters b∼10−3 AU, for AdvLIGO an expected event rate is O(10) events/yr/Gpc^3 with millisecond durations. For LISA, the typical duration is in the range of minutes to hours and the event-rate is O(10^3) events/yr/Gpc^3 for both 10^3 M⊙ IMBH and 1...

  17. Curvature profiles as initial conditions for primordial black hole formation

    International Nuclear Information System (INIS)

    Polnarev, Alexander G; Musco, Ilia

    2007-01-01

    This work is part of an ongoing research programme to study possible primordial black hole (PBH) formation during the radiation-dominated era of the early universe. Working within spherical symmetry, we specify an initial configuration in terms of a curvature profile, which represents initial conditions for the large amplitude metric perturbations, away from the homogeneous Friedmann-Robertson-Walker model, which are required for PBH formation. Using an asymptotic quasi-homogeneous solution, we relate the curvature profile with the density and velocity fields, which at an early enough time, when the length scale of the configuration is much larger than the cosmological horizon, can be treated as small perturbations of the background values. We present general analytic solutions for the density and velocity profiles. These solutions enable us to consider in a self-consistent way the formation of PBHs in a wide variety of cosmological situations with the cosmological fluid being treated as an arbitrary mixture of different components with different equations of state. We obtain the analytical solutions for the density and velocity profiles as functions of the initial time. We then use two different parametrizations for the curvature profile and follow numerically the evolution of initial configurations

  18. Primordial black holes formation from particle production during inflation

    International Nuclear Information System (INIS)

    Erfani, Encieh

    2016-01-01

    We study the possibility that particle production during inflation can source the required power spectrum for dark matter (DM) primordial black holes (PBH) formation. We consider the scalar and the gauge quanta production in inflation models, where in the latter case, we focus in two sectors: inflaton coupled i) directly and ii) gravitationally to a U(1) gauge field. We do not assume any specific potential for the inflaton field. Hence, in the gauge production case, in a model independent way we show that the non-production of DM PBHs puts stronger upper bound on the particle production parameter. Our analysis show that this bound is more stringent than the bounds from the bispectrum and the tensor-to-scalar ratio derived by gauge production in these models. In the scenario where the inflaton field coupled to a scalar field, we put an upper bound on the amplitude of the generated scalar power spectrum by non-production of PBHs. As a by-product we also show that the required scalar power spectrum for PBHs formation is lower when the density perturbations are non-Gaussian in comparison to the Gaussian density perturbations

  19. Quantum diffusion during inflation and primordial black holes

    Energy Technology Data Exchange (ETDEWEB)

    Pattison, Chris; Assadullahi, Hooshyar; Wands, David [Institute of Cosmology and Gravitation, University of Portsmouth, Dennis Sciama Building, Burnaby Road, Portsmouth, PO1 3FX (United Kingdom); Vennin, Vincent, E-mail: hooshyar.assadullahi@port.ac.uk, E-mail: christopher.pattison@port.ac.uk, E-mail: vincent.vennin@port.ac.uk, E-mail: david.wands@port.ac.uk [Laboratoire Astroparticule et Cosmologie, Université Denis Diderot Paris 7, 75013 Paris (France)

    2017-10-01

    We calculate the full probability density function (PDF) of inflationary curvature perturbations, even in the presence of large quantum backreaction. Making use of the stochastic-δ N formalism, two complementary methods are developed, one based on solving an ordinary differential equation for the characteristic function of the PDF, and the other based on solving a heat equation for the PDF directly. In the classical limit where quantum diffusion is small, we develop an expansion scheme that not only recovers the standard Gaussian PDF at leading order, but also allows us to calculate the first non-Gaussian corrections to the usual result. In the opposite limit where quantum diffusion is large, we find that the PDF is given by an elliptic theta function, which is fully characterised by the ratio between the squared width and height (in Planck mass units) of the region where stochastic effects dominate. We then apply these results to the calculation of the mass fraction of primordial black holes from inflation, and show that no more than ∼ 1 e -fold can be spent in regions of the potential dominated by quantum diffusion. We explain how this requirement constrains inflationary potentials with two examples.

  20. Primordial Terrestrial Xe from the Viewpoint of CFF-Xe

    Science.gov (United States)

    Meshik, A. P.; Shukolyukov, Yu. A.; Jessberger, E. K.

    1995-09-01

    We have already reported [7, 23] on the non-linear isotope mass-fractionation of fission Xe by migration of the precursors I, Te, Sn, and Sb and simultaneous fission of heavy nuclei. Xe with anomalous isotopic pattern was found in a number of meteorites and terrestrial materials and was named CFF-Xe (Chemically Fractionated Fission Xe). It is characterized by an up eightfold ^132Xe and ^131Xe excesses coupled with smaller ^134Xe and ^129Xe excesses. The present work is aimed to estimate the role of CFF-Xe in the terrestrial lithosphere and specifically deals with the problem of the isotopic composition of primordial terrestrial Xe. Due to variations of the migration conditions the isotopic structure of CFF-Xe is not well established and is even not reproducible in the same rock [2]. Nevertheless, we have tried to estimate the composition of CFF-Xe by investigating all available isotopic data of Xe of presumable mantle origin. This is Xe in MORB [29, 1, 12] and ocean island glasses [1, 28], in diamonds [17], in volcanic rocks [29, 8, 9, 21], in volcanic glasses from pillow basalts [16, 6], continental igneous rocks [1, 24, 10, 22], carbonatites and granitoids [1] as well as Xe in natural gases [3, 24, 11, 4, 15]. All data are plotted Fig. 1 where we also suggest end members of the observed scattering. Optimized slopes of CFF-lines are shown as well as the position of the initial points which we regard as primordial terrestrial Xe (Xe0). The isotopic composition of CFF-Xe and Xe0 are given in Tab. 1. The abundances of ^124Xe and ^126Xe in mantle derived samples are very uncertain, but since ^128Xe/^130Xe in Xea and Xe0 is very similar we propose the same ^124Xe/^130Xe and ^126Xe/^130Xe ratios for both Xea and Xe0. If so, AVCC-Xe is simply Xe0 with an admixture of L-Xe, and atmospheric xenon Xea consists of Xe0, CFF-Xe and a small amount of fission Xe (92.5%Xe0 + 5.3%CFF-Xe + 2.2%XeF). Thus, a number of old problems in xenology are removed. The hypothetic components U

  1. Primordial Black Holes and r-Process Nucleosynthesis.

    Science.gov (United States)

    Fuller, George M; Kusenko, Alexander; Takhistov, Volodymyr

    2017-08-11

    We show that some or all of the inventory of r-process nucleosynthesis can be produced in interactions of primordial black holes (PBHs) with neutron stars (NSs) if PBHs with masses 10^{-14}  M_{⊙}

  2. Primordial black holes from polynomial potentials in single field inflation

    Science.gov (United States)

    Hertzberg, Mark P.; Yamada, Masaki

    2018-04-01

    Within canonical single field inflation models, we provide a method to reverse engineer and reconstruct the inflaton potential from a given power spectrum. This is not only a useful tool to find a potential from observational constraints, but also gives insight into how to generate a large amplitude spike in density perturbations, especially those that may lead to primordial black holes (PBHs). In accord with other works, we find that the usual slow-roll conditions need to be violated in order to generate a significant spike in the spectrum. We find that a way to achieve a very large amplitude spike in single field models is for the classical roll of the inflaton to overshoot a local minimum during inflation. We provide an example of a quintic polynomial potential that implements this idea and leads to the observed spectral index, observed amplitude of fluctuations on large scales, significant PBH formation on small scales, and is compatible with other observational constraints. We quantify how much fine-tuning is required to achieve this in a family of random polynomial potentials, which may be useful to estimate the probability of PBH formation in the string landscape.

  3. Primordial Black Holes as Generators of Cosmic Structures

    Science.gov (United States)

    Carr, Bernard; Silk, Joseph

    2018-05-01

    Primordial black holes (PBHs) could provide the dark matter in various mass windows below 102M⊙ and those of 30M⊙ might explain the LIGO events. PBHs much larger than this might have important consequences even if they provide only a small fraction of the dark matter. In particular, they could generate cosmological structure either individually through the `seed' effect or collectively through the `Poisson' effect, thereby alleviating some problems associated with the standard CDM scenario. If the PBHs all have a similar mass and make a small contribution to the dark matter, then the seed effect dominates on small scales, in which case PBHs could generate the supermassive black holes in galactic nuclei or even galaxies themselves. If they have a similar mass and provide the dark matter, the Poisson effect dominates on all scales and the first bound clouds would form earlier than in the usual scenario, with interesting observational consequences. If the PBHs have an extended mass spectrum, which is more likely, they could fulfill all three roles - providing the dark matter, binding the first bound clouds and generating galaxies. In this case, the galactic mass function naturally has the observed form, with the galaxy mass being simply related to the black hole mass. The stochastic gravitational wave background from the PBHs in this scenario would extend continuously from the LIGO frequency to the LISA frequency, offering a potential goal for future surveys.

  4. Testing for new physics: neutrinos and the primordial power spectrum

    Energy Technology Data Exchange (ETDEWEB)

    Canac, Nicolas; Abazajian, Kevork N. [Department of Physics, University of California at Irvine, Irvine, CA 92697 (United States); Aslanyan, Grigor [Berkeley Center for Cosmological Physics, University of California, Berkeley, CA 94720 (United States); Easther, Richard [Department of Physics, University of Auckland, Private Bag 92019, Auckland (New Zealand); Price, Layne C., E-mail: ncanac@uci.edu, E-mail: aslanyan@berkeley.edu, E-mail: kevork@uci.edu, E-mail: r.easther@auckland.ac.nz, E-mail: laynep@andrew.cmu.edu [McWilliams Center for Cosmology, Department of Physics, Carnegie Mellon University, Pittsburgh, PA 15213 (United States)

    2016-09-01

    We test the sensitivity of neutrino parameter constraints from combinations of CMB and LSS data sets to the assumed form of the primordial power spectrum (PPS) using Bayesian model selection. Significantly, none of the tested combinations, including recent high-precision local measurements of H{sub 0} and cluster abundances, indicate a signal for massive neutrinos or extra relativistic degrees of freedom. For PPS models with a large, but fixed number of degrees of freedom, neutrino parameter constraints do not change significantly if the location of any features in the PPS are allowed to vary, although neutrino constraints are more sensitive to PPS features if they are known a priori to exist at fixed intervals in log k . Although there is no support for a non-standard neutrino sector from constraints on both neutrino mass and relativistic energy density, we see surprisingly strong evidence for features in the PPS when it is constrained with data from Planck 2015, SZ cluster counts, and recent high-precision local measurements of H{sub 0}. Conversely combining Planck with matter power spectrum and BAO measurements yields a much weaker constraint. Given that this result is sensitive to the choice of data this tension between SZ cluster counts, Planck and H{sub 0} measurements is likely an indication of unmodeled systematic bias that mimics PPS features, rather than new physics in the PPS or neutrino sector.

  5. A pilgrim's progress: Seeking meaning in primordial germ cell migration.

    Science.gov (United States)

    Cantú, Andrea V; Laird, Diana J

    2017-10-01

    Comparative studies of primordial germ cell (PGC) development across organisms in many phyla reveal surprising diversity in the route of migration, timing and underlying molecular mechanisms, suggesting that the process of migration itself is conserved. However, beyond the perfunctory transport of cellular precursors to their later arising home of the gonads, does PGC migration serve a function? Here we propose that the process of migration plays an additional role in quality control, by eliminating PGCs incapable of completing migration as well as through mechanisms that favor PGCs capable of responding appropriately to migration cues. Focusing on PGCs in mice, we explore evidence for a selective capacity of migration, considering the tandem regulation of proliferation and migration, cell-intrinsic and extrinsic control, the potential for tumors derived from failed PGC migrants, the potential mechanisms by which migratory PGCs vary in their cellular behaviors, and corresponding effects on development. We discuss the implications of a selective role of PGC migration for in vitro gametogenesis. Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.

  6. Primordial black hole formation during the QCD epoch

    International Nuclear Information System (INIS)

    Jedamzik, K.

    1997-01-01

    We consider the formation of horizon-size primordial black holes (PBH close-quote s) from pre-existing density fluctuations during cosmic phase transitions. It is pointed out that the formation of PBH close-quote s should be particularly efficient during the QCD epoch due to a substantial reduction of pressure forces during adiabatic collapse, or equivalently, a significant decrease in the effective speed of sound during the color-confinement transition. Our considerations imply that for generic initial density perturbation spectra PBH mass functions are expected to exhibit a pronounced peak on the QCD-horizon mass scale ∼1M circle-dot . This mass scale is roughly coincident with the estimated masses for compact objects recently observed in our galactic halo by the MACHO Collaboration. Black holes formed during the QCD epoch may offer an attractive explanation for the origin of halo dark matter evading possibly problematic nucleosynthesis and luminosity bounds on baryonic halo dark matter. copyright 1997 The American Physical Society

  7. Reduced bispectrum seeded by helical primordial magnetic fields

    Energy Technology Data Exchange (ETDEWEB)

    Hortúa, Héctor Javier [Universidad Nacional de Colombia-Bogotá, Facultad de Ciencias, Departamento de Física, Carrera 30 Calle 45-03, C.P. 111321 Bogotá (Colombia); Castañeda, Leonardo, E-mail: hjhortuao@unal.edu.co, E-mail: lcastanedac@unal.edu.co [Grupo de Gravitación y Cosmología, Observatorio Astronómico Nacional, Universidad Nacional de Colombia, cra 45 No 26-85, Edificio Uriel Gutierréz, Bogotá, D.C. (Colombia)

    2017-06-01

    In this paper, we investigate the effects of helical primordial magnetic fields (PMFs) on the cosmic microwave background (CMB) reduced bispectrum. We derive the full three-point statistics of helical magnetic fields and numerically calculate the even contribution in the collinear configuration. We then numerically compute the CMB reduced bispectrum induced by passive and compensated PMF modes on large angular scales. There is a negative signal on the bispectrum due to the helical terms of the fields and we also observe that the biggest contribution to the bispectrum comes from the non-zero IR cut-off for causal fields, unlike the two-point correlation case. For negative spectral indices, the reduced bispectrum is enhanced by the passive modes. This gives a lower value of the upper limit for the mean amplitude of the magnetic field on a given characteristic scale. However, high values of IR cut-off in the bispectrum, and the helical terms of the magnetic field relaxes this bound. This demonstrates the importance of the IR cut-off and helicity in the study of the nature of PMFs from CMB observations.

  8. New cosmic microwave background constraint to primordial gravitational waves.

    Science.gov (United States)

    Smith, Tristan L; Pierpaoli, Elena; Kamionkowski, Marc

    2006-07-14

    Primordial gravitational waves (GWs) with frequencies > or approximately equal to 10(-15) Hz contribute to the radiation density of the Universe at the time of decoupling of the cosmic microwave background (CMB). This affects the CMB and matter power spectra in a manner identical to massless neutrinos, unless the initial density perturbation for the GWs is nonadiabatic, as may occur if such GWs are produced during inflation or some post-inflation phase transition. In either case, current observations provide a constraint to the GW amplitude that competes with that from big-bang nucleosynthesis (BBN), although it extends to much lower frequencies (approximately 10(-15) Hz rather than the approximately 10(-10) Hz from BBN): at 95% confidence level, omega(gw)h(2)

  9. Nuclear Reprogramming in Mouse Primordial Germ Cells: Epigenetic Contribution

    Directory of Open Access Journals (Sweden)

    Massimo De Felici

    2011-01-01

    Full Text Available The unique capability of germ cells to give rise to a new organism, allowing the transmission of primary genetic information from generation to generation, depends on their epigenetic reprogramming ability and underlying genomic totipotency. Recent studies have shown that genome-wide epigenetic modifications, referred to as “epigenetic reprogramming”, occur during the development of the gamete precursors termed primordial germ cells (PGCs in the embryo. This reprogramming is likely to be critical for the germ line development itself and necessary to erase the parental imprinting and setting the base for totipotency intrinsic to this cell lineage. The status of genome acquired during reprogramming and the associated expression of key pluripotency genes render PGCs susceptible to transform into pluripotent stem cells. This may occur in vivo under still undefined condition, and it is likely at the origin of the formation of germ cell tumors. The phenomenon appears to be reproduced under partly defined in vitro culture conditions, when PGCs are transformed into embryonic germ (EG cells. In the present paper, I will try to summarize the contribution that epigenetic modifications give to nuclear reprogramming in mouse PGCs.

  10. Quantum origin of the primordial fluctuation spectrum and its statistics

    Science.gov (United States)

    Landau, Susana; León, Gabriel; Sudarsky, Daniel

    2013-07-01

    The usual account for the origin of cosmic structure during inflation is not fully satisfactory, as it lacks a physical mechanism capable of generating the inhomogeneity and anisotropy of our Universe, from an exactly homogeneous and isotropic initial state associated with the early inflationary regime. The proposal in [A. Perez, H. Sahlmann, and D. Sudarsky, Classical Quantum Gravity 23, 2317 (2006)] considers the spontaneous dynamical collapse of the wave function as a possible answer to that problem. In this work, we review briefly the difficulties facing the standard approach, as well as the answers provided by the above proposal and explore their relevance to the investigations concerning the characterization of the primordial spectrum and other statistical aspects of the cosmic microwave background and large-scale matter distribution. We will see that the new approach leads to novel ways of considering some of the relevant questions, and, in particular, to distinct characterizations of the non-Gaussianities that might have left imprints on the available data.

  11. Relic gravitational waves from light primordial black holes

    International Nuclear Information System (INIS)

    Dolgov, Alexander D.; Ejlli, Damian

    2011-01-01

    The energy density of relic gravitational waves (GWs) emitted by primordial black holes (PBHs) is calculated. We estimate the intensity of GWs produced at quantum and classical scattering of PBHs, the classical graviton emission from the PBH binaries in the early Universe, and the graviton emission due to PBH evaporation. If nonrelativistic PBHs dominated the cosmological energy density prior to their evaporation, the probability of formation of dense clusters of PBHs and their binaries in such clusters would be significant and the energy density of the generated gravitational waves in the present-day universe could exceed that produced by other known mechanisms. The intensity of these gravitational waves would be maximal in the GHz frequency band of the spectrum or higher and makes their observation very difficult by present detectors but also gives a rather good possibility to investigate it by present and future high-frequency gravitational waves electromagnetic detectors. However, the low-frequency part of the spectrum in the range f∼0.1-10 Hz may be detectable by the planned space interferometers DECIGO/BBO. For sufficiently long duration of the PBH matter-dominated stage, the cosmological energy fraction of GWs from inflation would be noticeably diluted.

  12. Planck 2015 results. XIX. Constraints on primordial magnetic fields

    CERN Document Server

    Ade, P.A.R.; Arnaud, M.; Arroja, F.; Ashdown, M.; Aumont, J.; Baccigalupi, C.; Ballardini, M.; Banday, A.J.; Barreiro, R.B.; Bartolo, N.; Battaner, E.; Benabed, K.; Benoît, A.; Benoit-Lévy, A.; Bernard, J.-P.; Bersanelli, M.; Bielewicz, P.; Bock, J.J.; Bonaldi, A.; Bonavera, L.; Bond, J.R.; Borrill, J.; Bouchet, F.R.; Bucher, M.; Burigana, C.; Butler, R.C.; Calabrese, E.; Cardoso, J.-F.; Catalano, A.; Chamballu, A.; Chiang, H.C.; Chluba, J.; Christensen, P.R.; Church, S.; Clements, D.L.; Colombi, S.; Colombo, L.P.L.; Combet, C.; Couchot, F.; Coulais, A.; Crill, B.P.; Curto, A.; Cuttaia, F.; Danese, L.; Davies, R.D.; Davis, R.J.; de Bernardis, P.; de Rosa, A.; de Zotti, G.; Delabrouille, J.; Désert, F.-X.; Diego, J.M.; Dolag, K.; Dole, H.; Donzelli, S.; Doré, O.; Douspis, M.; Ducout, A.; Dupac, X.; Efstathiou, G.; Elsner, F.; Enßlin, T.A.; Eriksen, H.K.; Fergusson, J.; Finelli, F.; Florido, E.; Forni, O.; Frailis, M.; Fraisse, A.A.; Franceschi, E.; Frejsel, A.; Galeotta, S.; Galli, S.; Ganga, K.; Giard, M.; Giraud-Héraud, Y.; Gjerløw, E.; González-Nuevo, J.; Górski, K.M.; Gratton, S.; Gregorio, A.; Gruppuso, A.; Gudmundsson, J.E.; Hansen, F.K.; Hanson, D.; Harrison, D.L.; Helou, G.; Henrot-Versillé, S.; Hernández-Monteagudo, C.; Herranz, D.; Hildebrandt, S.R.; Hivon, E.; Hobson, M.; Holmes, W.A.; Hornstrup, A.; Hovest, W.; Huffenberger, K.M.; Hurier, G.; Jaffe, A.H.; Jaffe, T.R.; Jones, W.C.; Juvela, M.; Keihänen, E.; Keskitalo, R.; Kim, J.; Kisner, T.S.; Knoche, J.; Kunz, M.; Kurki-Suonio, H.; Lagache, G.; Lähteenmäki, A.; Lamarre, J.-M.; Lasenby, A.; Lattanzi, M.; Lawrence, C.R.; Leahy, J.P.; Leonardi, R.; Lesgourgues, J.; Levrier, F.; Liguori, M.; Lilje, P.B.; Linden-Vørnle, M.; López-Caniego, M.; Lubin, P.M.; Macías-Pérez, J.F.; Maggio, G.; Maino, D.; Mandolesi, N.; Mangilli, A.; Maris, M.; Martin, P.G.; Martínez-González, E.; Masi, S.; Matarrese, S.; McGehee, P.; Meinhold, P.R.; Melchiorri, A.; Mendes, L.; Mennella, A.; Migliaccio, M.; Mitra, S.; Miville-Deschênes, M.-A.; Molinari, D.; Moneti, A.; Montier, L.; Morgante, G.; Mortlock, D.; Moss, A.; Munshi, D.; Murphy, J.A.; Naselsky, P.; Nati, F.; Natoli, P.; Netterfield, C.B.; Nørgaard-Nielsen, H.U.; Noviello, F.; Novikov, D.; Novikov, I.; Oppermann, N.; Oxborrow, C.A.; Paci, F.; Pagano, L.; Pajot, F.; Paoletti, D.; Pasian, F.; Patanchon, G.; Perdereau, O.; Perotto, L.; Perrotta, F.; Pettorino, V.; Piacentini, F.; Piat, M.; Pierpaoli, E.; Pietrobon, D.; Plaszczynski, S.; Pointecouteau, E.; Polenta, G.; Popa, L.; Pratt, G.W.; Prézeau, G.; Prunet, S.; Puget, J.-L.; Rachen, J.P.; Rebolo, R.; Reinecke, M.; Remazeilles, M.; Renault, C.; Renzi, A.; Ristorcelli, I.; Rocha, G.; Rosset, C.; Rossetti, M.; Roudier, G.; Rubiño-Martín, J.A.; Ruiz-Granados, B.; Rusholme, B.; Sandri, M.; Santos, D.; Savelainen, M.; Savini, G.; Scott, D.; Seiffert, M.D.; Shellard, E.P.S.; Shiraishi, M.; Spencer, L.D.; Stolyarov, V.; Stompor, R.; Sudiwala, R.; Sunyaev, R.; Sutton, D.; Suur-Uski, A.-S.; Sygnet, J.-F.; Tauber, J.A.; Terenzi, L.; Toffolatti, L.; Tomasi, M.; Tristram, M.; Tucci, M.; Tuovinen, J.; Umana, G.; Valenziano, L.; Valiviita, J.; Van Tent, B.; Vielva, P.; Villa, F.; Wade, L.A.; Wandelt, B.D.; Wehus, I.K.; Yvon, D.; Zacchei, A.

    2016-01-01

    We predict and investigate four types of imprint of a stochastic background of primordial magnetic fields (PMFs) on the cosmic microwave background (CMB) anisotropies: the impact of PMFs on the CMB spectra; the effect on CMB polarization induced by Faraday rotation; magnetically-induced non-Gaussianities; and the magnetically-induced breaking of statistical isotropy. Overall, Planck data constrain the amplitude of PMFs to less than a few nanogauss. In particular, individual limits coming from the analysis of the CMB angular power spectra, using the Planck likelihood, are $B_{1\\,\\mathrm{Mpc}}< 4.4$ nG (where $B_{1\\,\\mathrm{Mpc}}$ is the comoving field amplitude at a scale of 1 Mpc) at 95% confidence level, assuming zero helicity, and $B_{1\\,\\mathrm{Mpc}}< 5.6$ nG when we consider a maximally helical field. For nearly scale-invariant PMFs we obtain $B_{1\\,\\mathrm{Mpc}}<2.1$ nG and $B_{1\\,\\mathrm{Mpc}}<0.7$ nG if the impact of PMFs on the ionization history of the Universe is included in the analysis...

  13. Planck 2015 results. XVII. Constraints on primordial non-Gaussianity

    CERN Document Server

    Ade, P.A.R.; Arnaud, M.; Arroja, F.; Ashdown, M.; Aumont, J.; Baccigalupi, C.; Ballardini, M.; Banday, A.J.; Barreiro, R.B.; Bartolo, N.; Basak, S.; Battaner, E.; Benabed, K.; Benoît, A.; Benoit-Lévy, A.; Bernard, J.P.; Bersanelli, M.; Bielewicz, P.; Bock, J.J.; Bonaldi, A.; Bonavera, L.; Bond, J.R.; Borrill, J.; Bouchet, F.R.; Boulanger, F.; Bucher, M.; Burigana, C.; Butler, R.C.; Calabrese, E.; Cardoso, J.F.; Catalano, A.; Challinor, A.; Chamballu, A.; Chiang, H.C.; Christensen, P.R.; Church, S.; Clements, D.L.; Colombi, S.; Colombo, L.P.L.; Combet, C.; Couchot, F.; Coulais, A.; Crill, B.P.; Curto, A.; Cuttaia, F.; Danese, L.; Davies, R.D.; Davis, R.J.; de Bernardis, P.; De Rosa, A.; De Zotti, G.; Delabrouille, J.; Désert, F.X.; Diego, J.M.; Dole, H.; Donzelli, S.; Doré, O.; Douspis, M.; Ducout, A.; Dupac, X.; Efstathiou, G.; Elsner, F.; Enßlin, T.A.; Eriksen, H.K.; Fergusson, J.; Finelli, F.; Forni, O.; Frailis, M.; Fraisse, A.A.; Franceschi, E.; Frejsel, A.; Galeotta, S.; Galli, S.; Ganga, K.; Gauthier, C.; Ghosh, T.; Giard, M.; Giraud-Héraud, Y.; Gjerløw, E.; González-Nuevo, J.; Górski, K.M.; Gratton, S.; Gregorio, A.; Gruppuso, A.; Gudmundsson, J.E.; Hamann, J.; Hansen, F.K.; Hanson, D.; Harrison, D.L.; Heavens, A.; Helou, G.; Henrot-Versillé, S.; Hernández-Monteagudo, C.; Herranz, D.; Hildebrandt, S.R.; Hivon, E.; Hobson, M.; Holmes, W.A.; Hornstrup, A.; Hovest, W.; Huang, Z.; Huffenberger, K.M.; Hurier, G.; Jaffe, A.H.; Jaffe, T.R.; Jones, W.C.; Juvela, M.; Keihänen, E.; Keskitalo, R.; Kim, J.; Kisner, T.S.; Knoche, J.; Kunz, M.; Kurki-Suonio, H.; Lacasa, F.; Lagache, G.; Lähteenmäki, A.; Lamarre, J.M.; Lasenby, A.; Lattanzi, M.; Lawrence, C.R.; Leonardi, R.; Lesgourgues, J.; Levrier, F.; Lewis, A.; Liguori, M.; Lilje, P.B.; Linden-Vørnle, M.; López-Caniego, M.; Lubin, P.M.; Macías-Pérez, J.F.; Maggio, G.; Maino, D.; Mandolesi, N.; Mangilli, A.; Marinucci, D.; Maris, M.; Martin, P.G.; Martínez-González, E.; Masi, S.; Matarrese, S.; McGehee, P.; Meinhold, P.R.; Melchiorri, A.; Mendes, L.; Mennella, A.; Migliaccio, M.; Mitra, S.; Miville-Deschênes, M.A.; Moneti, A.; Montier, L.; Morgante, G.; Mortlock, D.; Moss, A.; Münchmeyer, M.; Munshi, D.; Murphy, J.A.; Naselsky, P.; Nati, F.; Natoli, P.; Netterfield, C.B.; Nørgaard-Nielsen, H.U.; Noviello, F.; Novikov, D.; Novikov, I.; Oxborrow, C.A.; Paci, F.; Pagano, L.; Pajot, F.; Paoletti, D.; Pasian, F.; Patanchon, G.; Peiris, H.V.; Perdereau, O.; Perotto, L.; Perrotta, F.; Pettorino, V.; Piacentini, F.; Piat, M.; Pierpaoli, E.; Pietrobon, D.; Plaszczynski, S.; Pointecouteau, E.; Polenta, G.; Popa, L.; Pratt, G.W.; Prézeau, G.; Prunet, S.; Puget, J.L.; Rachen, J.P.; Racine, B.; Rebolo, R.; Reinecke, M.; Remazeilles, M.; Renault, C.; Renzi, A.; Ristorcelli, I.; Rocha, G.; Rosset, C.; Rossetti, M.; Roudier, G.; Rubiño-Martín, J.A.; Rusholme, B.; Sandri, M.; Santos, D.; Savelainen, M.; Savini, G.; Scott, D.; Seiffert, M.D.; Shellard, E.P.S.; Shiraishi, M.; Smith, K.; Spencer, L.D.; Stolyarov, V.; Stompor, R.; Sudiwala, R.; Sunyaev, R.; Sutter, P.; Sutton, D.; Suur-Uski, A.S.; Sygnet, J.F.; Tauber, J.A.; Terenzi, L.; Toffolatti, L.; Tomasi, M.; Tristram, M.; Troja, A.; Tucci, M.; Tuovinen, J.; Valenziano, L.; Valiviita, J.; van Tent, B.; Vielva, P.; Villa, F.; Wade, L.A.; Wandelt, B.D.; Wehus, I.K.; Yvon, D.; Zacchei, A.; Zonca, A.

    2016-01-01

    The Planck full mission cosmic microwave background(CMB) temperature and E-mode polarization maps are analysed to obtain constraints on primordial non-Gaussianity(NG). Using three classes of optimal bispectrum estimators - separable template-fitting (KSW), binned, and modal - we obtain consistent values for the local, equilateral, and orthogonal bispectrum amplitudes, quoting as our final result from temperature alone fNL^local=2.5+\\-5.7, fNL^equil=-16+\\-70 and fNL^ortho=-34+\\-33(68%CL). Combining temperature and polarization data we obtain fNL^local=0.8+\\-5.0, fNL^equil=-4+\\-43 and fNL^ortho=-26+\\-21 (68%CL). The results are based on cross-validation of these estimators on simulations, are stable across component separation techniques, pass an extensive suite of tests, and are consistent with Minkowski functionals based measurements. The effect of time-domain de-glitching systematics on the bispectrum is negligible. In spite of these test outcomes we conservatively label the results including polarization da...

  14. The origin and migration of primordial germ cells in sturgeons.

    Directory of Open Access Journals (Sweden)

    Taiju Saito

    Full Text Available Primordial germ cells (PGCs arise elsewhere in the embryo and migrate into developing gonadal ridges during embryonic development. In several model animals, formation and migration patterns of PGCs have been studied, and it is known that these patterns vary. Sturgeons (genus Acipenser have great potential for comparative and evolutionary studies of development. Sturgeons belong to the super class Actinoptergii, and their developmental pattern is similar to that of amphibians, although their phylogenetic position is an out-group to teleost fishes. Here, we reveal an injection technique for sturgeon eggs allowing visualization of germplasm and PGCs. Using this technique, we demonstrate that the PGCs are generated at the vegetal pole of the egg and they migrate on the yolky cell mass toward the gonadal ridge. We also provide evidence showing that PGCs are specified by inheritance of maternally supplied germplasm. Furthermore, we demonstrate that the migratory mechanism is well-conserved between sturgeon and other remotely related teleosts, such as goldfish, by a single PGCs transplantation (SPT assay. The mode of PGCs specification in sturgeon is similar to that of anurans, but the migration pattern resembles that of teleosts.

  15. On minimally parametric primordial power spectrum reconstruction and the evidence for a red tilt

    International Nuclear Information System (INIS)

    Verde, Licia; Peiris, Hiranya

    2008-01-01

    The latest cosmological data seem to indicate a significant deviation from scale invariance of the primordial power spectrum when parameterized either by a power law or by a spectral index with non-zero 'running'. This deviation, by itself, serves as a powerful tool for discriminating among theories for the origin of cosmological structures such as inflationary models. Here, we use a minimally parametric smoothing spline technique to reconstruct the shape of the primordial power spectrum. This technique is well suited to searching for smooth features in the primordial power spectrum such as deviations from scale invariance or a running spectral index, although it would recover sharp features of high statistical significance. We use the WMAP three-year results in combination with data from a suite of higher resolution cosmic microwave background experiments (including the latest ACBAR 2008 release), as well as large-scale structure data from SDSS and 2dFGRS. We employ cross-validation to assess, using the data themselves, the optimal amount of smoothness in the primordial power spectrum consistent with the data. This minimally parametric reconstruction supports the evidence for a power law primordial power spectrum with a red tilt, but not for deviations from a power law power spectrum. Smooth variations in the primordial power spectrum are not significantly degenerate with the other cosmological parameters

  16. Using 15N-glycine trace technique to observe the influence of growth hormone on the rate of whole body protein metabolism in dwarfism

    International Nuclear Information System (INIS)

    Wu Jingchuan; Wu Zhen; Wu Jizong

    1993-01-01

    The changes of whole body protein metabolism was studied using one oral dose 15 N-glycine. Urine 15 N excretion 24 hours before and after injected growth hormone (GH) was measured in 9 cases of dwarfism. The results showed that in children with growth hormone deficiency (CHD) with low nitrogen balance, rate of protein syntheses and 15 N retention capability were significantly increased after treatment with GH. Children with constitutional growth delay (CGD) with normal parameters of nitrogen balance showed no difference before and after treatment of GH. It was concluded that 15 N trace might be a supplementary tool for the diagnosis and differential diagnosis of dwarfism

  17. Neonatal Death Dwarfism in a Girl with Distinctive Bone Dysplasia Compatible with Grebe Chondrodysplasia: Analysis by CT Scan-based Phenotype

    Directory of Open Access Journals (Sweden)

    Ali Al Kaissi

    2014-01-01

    Full Text Available We report on a female fetus noted to have severe malformative type of skeletal dysplasia on ultrasonography done at 35 weeks gestation. The girl died shortly after birth. Clinical examination showed a fetus with severe dwarfism, extensive long and short bones, and bone deficiencies associated with multiple dislocations. Computed tomography (CT scan-based phenotype showed a complex constellation of malformations consistent with the diagnosis of Grebe syndrome. Parents being first cousins (consanguineous marriage strongly suggests autosomal recessive pattern of inheritance. To our knowledge, this is the first report of neonatal death dwarfism of Grebe syndrome analyzed by CT scan-based phenotype.

  18. Neonatal Death Dwarfism in a Girl with Distinctive Bone Dysplasia Compatible with Grebe Chondrodysplasia: Analysis by CT Scan-based Phenotype.

    Science.gov (United States)

    Al Kaissi, Ali; Chehida, Farid Ben; Ganger, Rudolf; Grill, Franz

    2014-01-01

    We report on a female fetus noted to have severe malformative type of skeletal dysplasia on ultrasonography done at 35 weeks gestation. The girl died shortly after birth. Clinical examination showed a fetus with severe dwarfism, extensive long and short bones, and bone deficiencies associated with multiple dislocations. Computed tomography (CT) scan-based phenotype showed a complex constellation of malformations consistent with the diagnosis of Grebe syndrome. Parents being first cousins (consanguineous marriage) strongly suggests autosomal recessive pattern of inheritance. To our knowledge, this is the first report of neonatal death dwarfism of Grebe syndrome analyzed by CT scan-based phenotype.

  19. Atlanto-axial malformation and instability in dogs with pituitary dwarfism due to an LHX3 mutation.

    Science.gov (United States)

    Voorbij, A M W Y; Meij, B P; van Bruggen, L W L; Grinwis, G C M; Stassen, Q E M; Kooistra, H S

    2015-01-01

    Canine pituitary dwarfism or combined pituitary hormone deficiency (CPHD) in shepherd dogs is associated with an LHX3 mutation and can lead to a wide range of clinical manifestations. Some dogs with CPHD have neurological signs that are localized to the cervical spine. In human CPHD, caused by an LHX3 mutation, anatomical abnormalities in the atlanto-axial (C1-C2) joint have been described. To evaluate the presence of atlanto-axial malformations in dogs with pituitary dwarfism associated with an LHX3 mutation and to investigate the degree of similarity between the atlanto-axial anomalies found in canine and human CPHD patients with an LHX3 mutation. Three client-owned Czechoslovakian wolfdogs and 1 client-owned German shepherd dog, previously diagnosed with pituitary dwarfism caused by an LHX3 mutation, with neurological signs indicating a cervical spinal disorder. Radiography, computed tomography, and magnetic resonance imaging of the cranial neck and skull, necropsy, and histology. Diagnostic imaging identified abnormal positioning of the dens axis and incomplete ossification of the suture lines between the ossification centers of the atlas with concurrent atlanto-axial instability and dynamic compression of the spinal cord by the dens axis. The malformations and aberrant motion at C1-C2 were confirmed at necropsy and histology. The atlanto-axial abnormalities of the dwarf dogs resemble those encountered in human CPHD patients with an LHX3 mutation. These findings suggest an association between the LHX3 mutation in dogs with CPHD and atlanto-axial malformations. Consequently, pituitary dwarfs should be monitored closely for neurological signs. Copyright © 2015 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals, Inc. on behalf of American College of Veterinary Internal Medicine.

  20. Dominant dwarfism in transgenic rats by targeting human growth hormone (GH) expression to hypothalamic GH-releasing factor neurons.

    OpenAIRE

    Flavell, D M; Wells, T; Wells, S E; Carmignac, D F; Thomas, G B; Robinson, I C

    1996-01-01

    Expression of human growth hormone (hGH) was targeted to growth hormone-releasing (GRF) neurons in the hypothalamus of transgenic rats. This induced dominant dwarfism by local feedback inhibition of GRF. One line, bearing a single copy of a GRF-hGH transgene, has been characterized in detail, and has been termed Tgr (for Transgenic growth-retarded). hGH was detected by immunocytochemistry in the brain, restricted to the median eminence of the hypothalamus. Low levels were also detected in the...

  1. Volatile inventories in clathrate hydrates formed in the primordial nebula.

    Science.gov (United States)

    Mousis, Olivier; Lunine, Jonathan I; Picaud, Sylvain; Cordier, Daniel

    2010-01-01

    The examination of ambient thermodynamic conditions suggests that clathrate hydrates could exist in the Martian permafrost, on the surface and in the interior of Titan, as well as in other icy satellites. Clathrate hydrates are probably formed in a significant fraction of planetesimals in the solar system. Thus, these crystalline solids may have been accreted in comets, in the forming giant planets and in their surrounding satellite systems. In this work, we use a statistical thermodynamic model to investigate the composition of clathrate hydrates that may have formed in the primordial nebula. In our approach, we consider the formation sequence of the different ices occurring during the cooling of the nebula, a reasonable idealization of the process by which volatiles are trapped in planetesimals. We then determine the fractional occupancies of guests in each clathrate hydrate formed at a given temperature. The major ingredient of our model is the description of the guest-clathrate hydrate interaction by a spherically averaged Kihara potential with a nominal set of parameters, most of which are fitted to experimental equilibrium data. Our model allows us to find that Kr, Ar and N2 can be efficiently encaged in clathrate hydrates formed at temperatures higher than approximately 48.5 K in the primitive nebula, instead of forming pure condensates below 30 K. However, we find at the same time that the determination of the relative abundances of guest species incorporated in these clathrate hydrates strongly depends on the choice of the parameters of the Kihara potential and also on the adopted size of cages. Indeed, by testing different potential parameters, we have noted that even minor dispersions between the different existing sets can lead to non-negligible variations in the determination of the volatiles trapped in clathrate hydrates formed in the primordial nebula. However, these variations are not found to be strong enough to reverse the relative abundances

  2. Overexpression of CHMP7 from rapeseed and Arabidopsis causes dwarfism and premature senescence in Arabidopsis.

    Science.gov (United States)

    Yang, Hongli; Liu, Jing; Lin, Jiulu; Deng, Linbin; Fan, Shihang; Guo, Yan; Sun, Fengming; Hua, Wei

    2016-10-01

    Endosomal sorting complexes required for transport (ESCRT) are well known in mammalians and yeast and plays an essential role in the formation of multi-vesicular bodies. Accumulating evidence has shown that ESCRT proteins contribute to proper plant development. CHMP7 (charged multi-vesicular body protein 7) is an ESCRT-III-related protein and functions in the endosomal sorting pathway in humans. However, its function in plants has not been explored in detail. In this study, we isolate the putative homolog of CHMP7 from rapeseed, BnCHMP7, which contains eight exons and encodes a protein consisting of 423 amino acid residues. Compared with the wild-type, overexpression of BnCHMP7 in Arabidopsis disturbs plant growth and decreases seed yield. Moreover, the transgenic plants also display early leaf senescence and hypersensitivity to dark treatment due to defects in autophagic degradation. Further study showed that BnCHMP7 is highly expressed in leaves and that YFP-BnCHMP7 is predominantly localized in endosome. Compared with human CHMP7, we found that BnCHMP7 not only interacts with ESCRT-III subunits SNF7.2 (CHMP4B), but also with VPS2.2 and CHMP1B. As expected, microarray analysis revealed that the expression of ESCRT transport genes is significantly affected. Additionally, the expression of some genes that are involved in senescence, protein synthesis and protein degradation is also altered in BnCHMP7-overexpressing plants. Taken together, BnCHMP7 encodes an endosome-localized protein, which causes dwarfism and leaf senescence as an ESCRT-III-related component. Copyright © 2016 Elsevier GmbH. All rights reserved.

  3. Probing Primordial Black Hole Dark Matter with Gravitational Waves.

    Science.gov (United States)

    Kovetz, Ely D

    2017-09-29

    Primordial black holes (PBHs) have long been suggested as a candidate for making up some or all of the dark matter in the Universe. Most of the theoretically possible mass range for PBH dark matter has been ruled out with various null observations of expected signatures of their interaction with standard astrophysical objects. However, current constraints are significantly less robust in the 20  M_{⊙}≲M_{PBH}≲100  M_{⊙} mass window, which has received much attention recently, following the detection of merging black holes with estimated masses of ∼30  M_{⊙} by LIGO and the suggestion that these could be black holes formed in the early Universe. We consider the potential of advanced LIGO (aLIGO) operating at design sensitivity to probe this mass range by looking for peaks in the mass spectrum of detected events. To quantify the background, which is due to black holes that are formed from dying stars, we model the shape of the stellar-black-hole mass function and calibrate its amplitude to match the O1 results. Adopting very conservative assumptions about the PBH and stellar-black-hole merger rates, we show that ∼5  yr of aLIGO data can be used to detect a contribution of >20  M_{⊙} PBHs to dark matter down to f_{PBH}99.9% confidence level. Combined with other probes that already suggest tension with f_{PBH}=1, the obtainable independent limits from aLIGO will thus enable a firm test of the scenario that PBHs make up all of dark matter.

  4. On the Maximum Mass of Accreting Primordial Supermassive Stars

    Energy Technology Data Exchange (ETDEWEB)

    Woods, T. E.; Heger, Alexander [Monash Centre for Astrophysics, School of Physics and Astronomy, Monash University, VIC 3800 (Australia); Whalen, Daniel J. [Institute of Cosmology and Gravitation, University of Portsmouth, Dennis Sciama Building, Portsmouth PO1 3FX (United Kingdom); Haemmerlé, Lionel; Klessen, Ralf S. [Universität Heidelberg, Zentrum für Astronomie, Institut für Theoretische. Astrophysik, Albert-Ueberle-Str. 2, D-69120 Heidelberg (Germany)

    2017-06-10

    Supermassive primordial stars are suspected to be the progenitors of the most massive quasars at z ∼ 6. Previous studies of such stars were either unable to resolve hydrodynamical timescales or considered stars in isolation, not in the extreme accretion flows in which they actually form. Therefore, they could not self-consistently predict their final masses at collapse, or those of the resulting supermassive black hole seeds, but rather invoked comparison to simple polytropic models. Here, we systematically examine the birth, evolution, and collapse of accreting, non-rotating supermassive stars under accretion rates of 0.01–10 M {sub ⊙} yr{sup −1} using the stellar evolution code Kepler . Our approach includes post-Newtonian corrections to the stellar structure and an adaptive nuclear network and can transition to following the hydrodynamic evolution of supermassive stars after they encounter the general relativistic instability. We find that this instability triggers the collapse of the star at masses of 150,000–330,000 M {sub ⊙} for accretion rates of 0.1–10 M {sub ⊙} yr{sup −1}, and that the final mass of the star scales roughly logarithmically with the rate. The structure of the star, and thus its stability against collapse, is sensitive to the treatment of convection and the heat content of the outer accreted envelope. Comparison with other codes suggests differences here may lead to small deviations in the evolutionary state of the star as a function of time, that worsen with accretion rate. Since the general relativistic instability leads to the immediate death of these stars, our models place an upper limit on the masses of the first quasars at birth.

  5. Primordial black holes in linear and non-linear regimes

    Energy Technology Data Exchange (ETDEWEB)

    Allahyari, Alireza; Abolhasani, Ali Akbar [Department of Physics, Sharif University of Technology, Tehran (Iran, Islamic Republic of); Firouzjaee, Javad T., E-mail: allahyari@physics.sharif.edu, E-mail: j.taghizadeh.f@ipm.ir [School of Astronomy, Institute for Research in Fundamental Sciences (IPM), P.O. Box 19395-5531, Tehran (Iran, Islamic Republic of)

    2017-06-01

    We revisit the formation of primordial black holes (PBHs) in the radiation-dominated era for both linear and non-linear regimes, elaborating on the concept of an apparent horizon. Contrary to the expectation from vacuum models, we argue that in a cosmological setting a density fluctuation with a high density does not always collapse to a black hole. To this end, we first elaborate on the perturbation theory for spherically symmetric space times in the linear regime. Thereby, we introduce two gauges. This allows to introduce a well defined gauge-invariant quantity for the expansion of null geodesics. Using this quantity, we argue that PBHs do not form in the linear regime irrespective of the density of the background. Finally, we consider the formation of PBHs in non-linear regimes, adopting the spherical collapse picture. In this picture, over-densities are modeled by closed FRW models in the radiation-dominated era. The difference of our approach is that we start by finding an exact solution for a closed radiation-dominated universe. This yields exact results for turn-around time and radius. It is important that we take the initial conditions from the linear perturbation theory. Additionally, instead of using uniform Hubble gauge condition, both density and velocity perturbations are admitted in this approach. Thereby, the matching condition will impose an important constraint on the initial velocity perturbations δ {sup h} {sub 0} = −δ{sub 0}/2. This can be extended to higher orders. Using this constraint, we find that the apparent horizon of a PBH forms when δ > 3 at turn-around time. The corrections also appear from the third order. Moreover, a PBH forms when its apparent horizon is outside the sound horizon at the re-entry time. Applying this condition, we infer that the threshold value of the density perturbations at horizon re-entry should be larger than δ {sub th} > 0.7.

  6. Merger rate of primordial black-hole binaries

    Science.gov (United States)

    Ali-Haïmoud, Yacine; Kovetz, Ely D.; Kamionkowski, Marc

    2017-12-01

    Primordial black holes (PBHs) have long been a candidate for the elusive dark matter (DM), and remain poorly constrained in the ˜20 - 100 M⊙ mass range. PBH binaries were recently suggested as the possible source of LIGO's first detections. In this paper, we thoroughly revisit existing estimates of the merger rate of PBH binaries. We compute the probability distribution of orbital parameters for PBH binaries formed in the early Universe, accounting for tidal torquing by all other PBHs, as well as standard large-scale adiabatic perturbations. We then check whether the orbital parameters of PBH binaries formed in the early Universe can be significantly affected between formation and merger. Our analytic estimates indicate that the tidal field of halos and interactions with other PBHs, as well as dynamical friction by unbound standard DM particles, do not do significant work on nor torque PBH binaries. We estimate the torque due to baryon accretion to be much weaker than previous calculations, albeit possibly large enough to significantly affect the eccentricity of typical PBH binaries. We also revisit the PBH-binary merger rate resulting from gravitational capture in present-day halos, accounting for Poisson fluctuations. If binaries formed in the early Universe survive to the present time, as suggested by our analytic estimates, they dominate the total PBH merger rate. Moreover, this merger rate would be orders of magnitude larger than LIGO's current upper limits if PBHs make a significant fraction of the dark matter. As a consequence, LIGO would constrain ˜10 - 300 M⊙ PBHs to constitute no more than ˜1 % of the dark matter. To make this conclusion fully robust, though, numerical study of several complex astrophysical processes—such as the formation of the first PBH halos and how they may affect PBH binaries, as well as the accretion of gas onto an extremely eccentric binary—is needed.

  7. Primordial black hole production in Critical Higgs Inflation

    Science.gov (United States)

    Ezquiaga, Jose María; García-Bellido, Juan; Ruiz Morales, Ester

    2018-01-01

    Primordial Black Holes (PBH) arise naturally from high peaks in the curvature power spectrum of near-inflection-point single-field inflation, and could constitute today the dominant component of the dark matter in the universe. In this letter we explore the possibility that a broad spectrum of PBH is formed in models of Critical Higgs Inflation (CHI), where the near-inflection point is related to the critical value of the RGE running of both the Higgs self-coupling λ (μ) and its non-minimal coupling to gravity ξ (μ). We show that, for a wide range of model parameters, a half-domed-shaped peak in the matter spectrum arises at sufficiently small scales that it passes all the constraints from large scale structure observations. The predicted cosmic microwave background spectrum at large scales is in agreement with Planck 2015 data, and has a relatively large tensor-to-scalar ratio that may soon be detected by B-mode polarization experiments. Moreover, the wide peak in the power spectrum gives an approximately lognormal PBH distribution in the range of masses 0.01- 100M⊙, which could explain the LIGO merger events, while passing all present PBH observational constraints. The stochastic background of gravitational waves coming from the unresolved black-hole-binary mergers could also be detected by LISA or PTA. Furthermore, the parameters of the CHI model are consistent, within 2σ, with the measured Higgs parameters at the LHC and their running. Future measurements of the PBH mass spectrum could allow us to obtain complementary information about the Higgs couplings at energies well above the EW scale, and thus constrain new physics beyond the Standard Model.

  8. Primordial black hole production in Critical Higgs Inflation

    Directory of Open Access Journals (Sweden)

    Jose María Ezquiaga

    2018-01-01

    Full Text Available Primordial Black Holes (PBH arise naturally from high peaks in the curvature power spectrum of near-inflection-point single-field inflation, and could constitute today the dominant component of the dark matter in the universe. In this letter we explore the possibility that a broad spectrum of PBH is formed in models of Critical Higgs Inflation (CHI, where the near-inflection point is related to the critical value of the RGE running of both the Higgs self-coupling λ(μ and its non-minimal coupling to gravity ξ(μ. We show that, for a wide range of model parameters, a half-domed-shaped peak in the matter spectrum arises at sufficiently small scales that it passes all the constraints from large scale structure observations. The predicted cosmic microwave background spectrum at large scales is in agreement with Planck 2015 data, and has a relatively large tensor-to-scalar ratio that may soon be detected by B-mode polarization experiments. Moreover, the wide peak in the power spectrum gives an approximately lognormal PBH distribution in the range of masses 0.01–100M⊙, which could explain the LIGO merger events, while passing all present PBH observational constraints. The stochastic background of gravitational waves coming from the unresolved black-hole-binary mergers could also be detected by LISA or PTA. Furthermore, the parameters of the CHI model are consistent, within 2σ, with the measured Higgs parameters at the LHC and their running. Future measurements of the PBH mass spectrum could allow us to obtain complementary information about the Higgs couplings at energies well above the EW scale, and thus constrain new physics beyond the Standard Model.

  9. Specification of primordial germ cells in medaka (Oryzias latipes

    Directory of Open Access Journals (Sweden)

    Raz Erez

    2007-01-01

    Full Text Available Abstract Background Primordial germ cells (PGCs give rise to gametes that are responsible for the development of a new organism in the next generation. Two modes of germ line specification have been described: the inheritance of asymmetrically-localized maternally provided cytoplasmic determinants and the induction of the PGC fate by other cell types. PGCs specification in zebrafish appears to depend on inheritance of germ plasm in which several RNA molecules such as vasa and nanos reside. Whether the specification mode of PGCs found in zebrafish is general for other fish species was brought into question upon analysis of olvas expression – the vasa homologue in another teleost, medaka (Oryzias latipes. Here, in contrast to the findings in zebrafish, the PGCs are found in a predictable position relative to a somatic structure, the embryonic shield. This finding, coupled with the fact that vasa mRNA, which is localized to the germ plasm of zebrafish but does not label a similar structure in medaka opened the possibility of fundamentally different mechanisms governing PGC specification in these two fish species. Results In this study we addressed the question concerning the mode of PGC specification in medaka using embryological experiments, analysis of RNA stability in the PGCs and electron microscopy observations. Dramatic alterations in the somatic environment, i.e. induction of a secondary axis or mesoderm formation alteration, did not affect the PGC number. Furthermore, the PGCs of medaka are capable of protecting specific RNA molecules from degradation and could therefore exhibit a specific mRNA expression pattern controlled by posttrancriptional mechanisms. Subsequent analysis of 4-cell stage medaka embryos using electron microscopy revealed germ plasm-like structures located at a region corresponding to that of zebrafish germ plasm. Conclusion Taken together, these results are consistent with the idea that in medaka the inheritance of

  10. Formation of primordial supermassive stars by rapid mass accretion

    Energy Technology Data Exchange (ETDEWEB)

    Hosokawa, Takashi; Yoshida, Naoki [Department of Physics and Research Center for the Early Universe, The University of Tokyo, Tokyo 113-0033 (Japan); Yorke, Harold W. [Jet Propulsion Laboratory, California Institute of Technology, Pasadena, CA 91109 (United States); Inayoshi, Kohei; Omukai, Kazuyuki, E-mail: takashi.hosokawa@phys.s.u-tokyo.ac.jp, E-mail: hosokwtk@gmail.com [Department of Physics, Kyoto University, Kyoto 606-8502 (Japan)

    2013-12-01

    Supermassive stars (SMSs) forming via very rapid mass accretion ( M-dot {sub ∗}≳0.1 M{sub ⊙} yr{sup −1}) could be precursors of supermassive black holes observed beyond a redshift of about six. Extending our previous work, here we study the evolution of primordial stars growing under such rapid mass accretion until the stellar mass reaches 10{sup 4–5} M {sub ☉}. Our stellar evolution calculations show that a star becomes supermassive while passing through the 'supergiant protostar' stage, whereby the star has a very bloated envelope and a contracting inner core. The stellar radius increases monotonically with the stellar mass until ≅ 100 AU for M {sub *} ≳ 10{sup 4} M {sub ☉}, after which the star begins to slowly contract. Because of the large radius, the effective temperature is always less than 10{sup 4} K during rapid accretion. The accreting material is thus almost completely transparent to the stellar radiation. Only for M {sub *} ≳ 10{sup 5} M {sub ☉} can stellar UV feedback operate and disturb the mass accretion flow. We also examine the pulsation stability of accreting SMSs, showing that the pulsation-driven mass loss does not prevent stellar mass growth. Observational signatures of bloated SMSs should be detectable with future observational facilities such as the James Webb Space Telescope. Our results predict that an inner core of the accreting SMS should suffer from the general relativistic instability soon after the stellar mass exceeds 10{sup 5} M {sub ☉}. An extremely massive black hole should form after the collapse of the inner core.

  11. Phenotypic characterization of the Komeda miniature rat Ishikawa, an animal model of dwarfism caused by a mutation in Prkg2.

    Science.gov (United States)

    Tsuchida, Atsuko; Yokoi, Norihide; Namae, Misako; Fuse, Masanori; Masuyama, Taku; Sasaki, Masashi; Kawazu, Shoji; Komeda, Kajuro

    2008-12-01

    The Komeda miniature rat Ishikawa (KMI) is a spontaneous animal model of dwarfism caused by a mutation in Prkg2, which encodes cGMP-dependent protein kinase type II (cGKII). This strain has been maintained as a segregating inbred strain for the mutated allele mri. In this study, we characterized the phenotype of the KMI strain, particularly growth traits, craniofacial measurements, and organ weights. The homozygous mutant (mri/mri) animals were approximately 70% to 80% of the size of normal, heterozygous (mri/+) animals in regard to body length, weight, and naso-occipital length of the calvarium, and the retroperitoneal fat of mri/mri rats was reduced greatly. In addition, among progeny of the (BNxKMI-mri/mri)F1xKMI-mri/mri backcross, animals with the KMI phenotype (mri/mri) were easily distinguished from those showing the wild-type phenotype (mri/+) by using growth traits such as body length and weight. Genetic analysis revealed that all of the backcrossed progeny exhibiting the KMI phenotype were homozygous for the KMI allele in the 1.2-cM region between D14Rat5 and D14Rat80 on chromosome 14, suggesting strongly that mri acts in a completely recessive manner. The KMI strain is the first and only rat model with a confirmed mutation in Prkg2 and is a valuable model for studying dwarfism and longitudinal growth traits in humans and for functional studies of cGKII.

  12. Catalytically Active Guanylyl Cyclase B Requires Endoplasmic Reticulum-mediated Glycosylation, and Mutations That Inhibit This Process Cause Dwarfism.

    Science.gov (United States)

    Dickey, Deborah M; Edmund, Aaron B; Otto, Neil M; Chaffee, Thomas S; Robinson, Jerid W; Potter, Lincoln R

    2016-05-20

    C-type natriuretic peptide activation of guanylyl cyclase B (GC-B), also known as natriuretic peptide receptor B or NPR2, stimulates long bone growth, and missense mutations in GC-B cause dwarfism. Four such mutants (L658F, Y708C, R776W, and G959A) bound (125)I-C-type natriuretic peptide on the surface of cells but failed to synthesize cGMP in membrane GC assays. Immunofluorescence microscopy also indicated that the mutant receptors were on the cell surface. All mutant proteins were dephosphorylated and incompletely glycosylated, but dephosphorylation did not explain the inactivation because the mutations inactivated a "constitutively phosphorylated" enzyme. Tunicamycin inhibition of glycosylation in the endoplasmic reticulum or mutation of the Asn-24 glycosylation site decreased GC activity, but neither inhibition of glycosylation in the Golgi by N-acetylglucosaminyltransferase I gene inactivation nor PNGase F deglycosylation of fully processed GC-B reduced GC activity. We conclude that endoplasmic reticulum-mediated glycosylation is required for the formation of an active catalytic, but not ligand-binding domain, and that mutations that inhibit this process cause dwarfism. © 2016 by The American Society for Biochemistry and Molecular Biology, Inc.

  13. MORPHO‐FUNCTIONAL RE‐ESTABLISHMENT OF CRANIO‐FACIAL GROWTH DISORDERS IN PITUITARY DWARFISM BY RHGH THERAPY

    Directory of Open Access Journals (Sweden)

    Adriana BĂLAN

    2013-06-01

    Full Text Available The present study evaluates the cranio‐facial growth disorders in a series of patients suffering from pituitary dwarfism, as a result of the therapy with recombinant human growth hormone (rhGH. Included in the study were 15 children diagnosed with pituitary dwarfism in the Endocrinology Clinics of the ”Sf. Spiridon” Hospital of Iasi, subjected to a treatment with rhGH for 2 years. After the application of the therapy, the parameters of general physical development were followed and the dental ortho‐ pantomography and profile cephalometry were analyzed. The results obtained confirm a general physical growth of about 1.3 cm/month in the first year of treatment, followed by values around 1.1 cm/month in the second year. Cranio‐facial development was improved by the increase of both mandibular vertical branch and facial height. At the level of the dental arches, one could observe improved sagital and transversal relations at molar level, as well as a regulating tendency of dental eruption. The therapy with rhGH is thus influent at cranio‐facial level, favourizing the development of maxillaries, regulation of dental eruption and the aesthetic aspects.

  14. Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism

    Energy Technology Data Exchange (ETDEWEB)

    Bonaventure, J.; Rousseau, F.; Legeai-Mallet, L.; LeMerrer, M.; Munnich, A.; Maroteaux, P. [INSERM, Paris (France)

    1996-05-03

    The mapping of the achondroplasia locus to the short arm of chromosome 4 and the subsequent identification of a recurrent missense mutation (G380R) in the fibroblast growth factor receptor 3 (FGFR-3) gene has been followed by the detection of common FGFR-3 mutations in two clinically related disorders: thanatophoric dwarfism (types I and II) and hypochondroplasia. The relative clinical homogeneity of achondroplasia was substantiated by demonstration of its genetic homogeneity as more than 98% of all patients hitherto reported exhibit mutations in the transmembrane receptor domain. Although most hypochondroplasia cases were accounted for by a recurrent missense substitution (N540K) in the first tyrosine kinase (TK 1) domain of the receptor, a significant proportion (40%) of our patients did not harbor the N540K mutation and three hypochondroplasia families were not linked to the FGFR-3 locus, thus supporting clinical heterogeneity of this condition. In thanatophoric dwarfism (TD), a recurrent FGFR-3 mutation located in the second tyrosine kinase (TK 2) domain of the receptor was originally detected in 100% of TD II cases; in our series, seven distinct mutations in three different protein domains were identified in 25 of 26 TD I patients, suggesting that TD, like achondroplasia, is a genetically homogenous skeletal disorder. 31 refs., 4 figs., 2 tabs.

  15. Novel splice site mutation in the growth hormone receptor gene in Turkish patients with Laron-type dwarfism.

    Science.gov (United States)

    Arman, Ahmet; Ozon, Alev; Isguven, Pinar S; Coker, Ajda; Peker, Ismail; Yordam, Nursen

    2008-01-01

    Growth hormone (GH) is involved in growth, and fat and carbohydrate metabolism. Interaction of GH with the GH receptor (GHR) is necessary for systemic and local production of insulin-like growth factor-I (IGF-I) which mediates GH actions. Mutations in the GHR cause severe postnatal growth failure; the disorder is an autosomal recessive genetic disease resulting in GH insensitivity, called Laron syndrome. It is characterized by dwarfism with elevated serum GH and low levels of IGF-I. We analyzed the GHR gene for mutations and polymorphisms in eight patients with Laron-type dwarfism from six families. We found three missense mutations (S40L, V125A, I526L), one nonsense mutation (W157X), and one splice site mutation in the extracellular domain of GHR. Furthermore, G168G and exon 3 deletion polymorphisms were detected in patients with Laron syndrome. The splice site mutation, which is a novel mutation, was located at the donor splice site of exon 2/ intron 2 within GHR. Although this mutation changed the highly conserved donor splice site consensus sequence GT to GGT by insertion of a G residue, the intron splicing between exon 2 and exon 3 was detected in the patient. These results imply that the splicing occurs arthe GT site in intron 2, leaving the extra inserted G residue at the end of exon 2, thus changing the open reading frame of GHR resulting in a premature termination codon in exon 3.

  16. The Atacama Cosmology Telescope: A Measurement of the Primordial Power Spectrum

    Science.gov (United States)

    Hlozek, Renee; Dunkley, Joanna; Addison, Graeme; Appel, John William; Bond, J. Richard; Carvalho, C. Sofia; Das, Sudeep; Devlin, Mark J.; Duenner, Rolando; Essinger-Hileman, Thomas; hide

    2011-01-01

    We present constraints on the primordial power spectrum of adiabatic fluctuations using data from the 2008 Southern Survey of the Atacama Cosmology Telescope (ACT). The angular resolution of ACT provides sensitivity to scales beyond l = 1000 for resolution of multiple peaks in the primordial temperature power spectrum, which enables us to probe the primordial power spectrum of adiabatic scalar perturbations with wavenumbers up to k approx. = 0.2 Mp/c. We find no evidence for deviation from power-law fluctuations over two decades in scale. Matter fluctuations inferred from the primordial temperature power spectrum evolve over cosmic time and can be used to predict the matter power spectrum at late times; we illustrate the overlap of the matter power inferred from CMB measurements (which probe the power spectrum in thc linear regime) with existing probes of galaxy clustering, cluster abundances and weak lensing constraints on the primordial power. This highlights the range of scales probed by current measurement.s of the matter power spectrum.

  17. THE ATACAMA COSMOLOGY TELESCOPE: A MEASUREMENT OF THE PRIMORDIAL POWER SPECTRUM

    Energy Technology Data Exchange (ETDEWEB)

    Hlozek, Renee; Dunkley, Joanna; Addison, Graeme [Department of Astrophysics, Oxford University, Oxford OX1 3RH (United Kingdom); Appel, John William; Das, Sudeep; Essinger-Hileman, Thomas; Fowler, Joseph W.; Hajian, Amir; Hincks, Adam D. [Joseph Henry Laboratories of Physics, Jadwin Hall, Princeton University, Princeton, NJ 08544 (United States); Bond, J. Richard [Canadian Institute for Theoretical Astrophysics, University of Toronto, Toronto, ON M5S 3H8 (Canada); Carvalho, C. Sofia [IPFN, IST, Av. RoviscoPais, 1049-001Lisboa, Portugal and RCAAM, Academy of Athens, Soranou Efessiou 4, 11-527 Athens (Greece); Devlin, Mark J.; Klein, Jeff [Department of Physics and Astronomy, University of Pennsylvania, 209 South 33rd Street, Philadelphia, PA 19104 (United States); Duenner, Rolando; Gallardo, Patricio [Departamento de Astronomia y Astrofisica, Facultad de Fisica, Pontificia Universidad Catolica de Chile, Casilla 306, Santiago 22 (Chile); Halpern, Mark; Hasselfield, Matthew [Department of Physics and Astronomy, University of British Columbia, Vancouver, BC V6T 1Z4 (Canada); Hilton, Matt [School of Physics and Astronomy, University of Nottingham, University Park, Nottingham, NG7 2RD (United Kingdom); Hughes, John P. [Department of Physics and Astronomy, Rutgers, The State University of New Jersey, Piscataway, NJ 08854-8019 (United States); Irwin, Kent D. [NIST Quantum Devices Group, 325 Broadway Mailcode 817.03, Boulder, CO 80305 (United States); and others

    2012-04-10

    We present constraints on the primordial power spectrum of adiabatic fluctuations using data from the 2008 Southern Survey of the Atacama Cosmology Telescope (ACT) in combination with measurements from the Wilkinson Microwave Anisotropy Probe and a prior on the Hubble constant. The angular resolution of ACT provides sensitivity to scales beyond l = 1000 for resolution of multiple peaks in the primordial temperature power spectrum, which enables us to probe the primordial power spectrum of adiabatic scalar perturbations with wavenumbers up to k {approx_equal} 0.2 Mpc{sup -1}. We find no evidence for deviation from power-law fluctuations over two decades in scale. Matter fluctuations inferred from the primordial temperature power spectrum evolve over cosmic time and can be used to predict the matter power spectrum at late times; we illustrate the overlap of the matter power inferred from cosmic microwave background measurements (which probe the power spectrum in the linear regime) with existing probes of galaxy clustering, cluster abundances, and weak-lensing constraints on the primordial power. This highlights the range of scales probed by current measurements of the matter power spectrum.

  18. Proteomic Analysis of Fetal Ovaries Reveals That Primordial Follicle Formation and Transition Are Differentially Regulated

    Directory of Open Access Journals (Sweden)

    Mengmeng Xu

    2017-01-01

    Full Text Available Primordial follicle formation represents a critical phase of the initiation of embryonic reproductive organ development, while the primordial follicle transition into primary follicle determines whether oestrus or ovulation will occur in female animals. To identify molecular mechanism of new proteins which are involved in ovarian development, we employed 2D-DIGE to compare the protein expression profiles of primordial follicles and primary follicles of fetal ovaries in pigs. Fetal ovaries were collected at distinct time-points of the gestation cycle (g55 and g90. The identified proteins at the g55 time-point are mainly involved in the development of anatomical structures [reticulocalbin-1 (RCN1, reticulocalbin-3 (RCN3], cell differentiation (actin, and stress response [heterogeneous nuclear ribonucleoprotein K (HNRNPK]. Meanwhile, at the g90 stage, the isolated proteins with altered expression levels were mainly associated with cell proliferation [major vault protein (MVP] and stress response [heat shock-related 70 kDa protein 2 (HSPA2]. In conclusion, our work revealed that primordial follicle formation is regulated by RCN1, RCN3, actin, and HNRNPK, while the primordial follicle transformation to primary follicle is regulated by MVP and HSPA2. Therefore, our results provide further information for the prospective understanding of the molecular mechanism(s involved in the regulation of the ovarian follicle development.

  19. Dwarfism in Mice Lacking Collagen-binding Integrins α2β1 and α11β1 Is Caused by Severely Diminished IGF-1 Levels*

    Science.gov (United States)

    Blumbach, Katrin; Niehoff, Anja; Belgardt, Bengt F.; Ehlen, Harald W. A.; Schmitz, Markus; Hallinger, Ralf; Schulz, Jan-Niklas; Brüning, Jens C.; Krieg, Thomas; Schubert, Markus; Gullberg, Donald; Eckes, Beate

    2012-01-01

    Mice with a combined deficiency in the α2β1 and α11β1 integrins lack the major receptors for collagen I. These mutants are born with inconspicuous differences in size but develop dwarfism within the first 4 weeks of life. Dwarfism correlates with shorter, less mineralized and functionally weaker bones that do not result from growth plate abnormalities or osteoblast dysfunction. Besides skeletal dwarfism, internal organs are correspondingly smaller, indicating proportional dwarfism and suggesting a systemic cause for the overall size reduction. In accordance with a critical role of insulin-like growth factor (IGF)-1 in growth control and bone mineralization, circulating IGF-1 levels in the sera of mice lacking either α2β1 or α11β1 or both integrins were sharply reduced by 39%, 64%, or 81% of normal levels, respectively. Low hepatic IGF-1 production resulted from diminished growth hormone-releasing hormone expression in the hypothalamus and, subsequently, reduced growth hormone expression in the pituitary glands of these mice. These findings point out a novel role of collagen-binding integrin receptors in the control of growth hormone/IGF-1-dependent biological activities. Thus, coupling hormone secretion to extracellular matrix signaling via integrins represents a novel concept in the control of endocrine homeostasis. PMID:22210772

  20. Dwarfism in mice lacking collagen-binding integrins α2β1 and α11β1 is caused by severely diminished IGF-1 levels.

    Science.gov (United States)

    Blumbach, Katrin; Niehoff, Anja; Belgardt, Bengt F; Ehlen, Harald W A; Schmitz, Markus; Hallinger, Ralf; Schulz, Jan-Niklas; Brüning, Jens C; Krieg, Thomas; Schubert, Markus; Gullberg, Donald; Eckes, Beate

    2012-02-24

    Mice with a combined deficiency in the α2β1 and α11β1 integrins lack the major receptors for collagen I. These mutants are born with inconspicuous differences in size but develop dwarfism within the first 4 weeks of life. Dwarfism correlates with shorter, less mineralized and functionally weaker bones that do not result from growth plate abnormalities or osteoblast dysfunction. Besides skeletal dwarfism, internal organs are correspondingly smaller, indicating proportional dwarfism and suggesting a systemic cause for the overall size reduction. In accordance with a critical role of insulin-like growth factor (IGF)-1 in growth control and bone mineralization, circulating IGF-1 levels in the sera of mice lacking either α2β1 or α11β1 or both integrins were sharply reduced by 39%, 64%, or 81% of normal levels, respectively. Low hepatic IGF-1 production resulted from diminished growth hormone-releasing hormone expression in the hypothalamus and, subsequently, reduced growth hormone expression in the pituitary glands of these mice. These findings point out a novel role of collagen-binding integrin receptors in the control of growth hormone/IGF-1-dependent biological activities. Thus, coupling hormone secretion to extracellular matrix signaling via integrins represents a novel concept in the control of endocrine homeostasis.

  1. Effects of rotation on the evolution of primordial stars

    Science.gov (United States)

    Ekström, S.; Meynet, G.; Chiappini, C.; Hirschi, R.; Maeder, A.

    2008-10-01

    Context: Although still beyond our observational abilities, Population III stars are interesting objects from many perspectives. They are responsible for the re-ionisation of the inter-galactic medium. They also left their chemical imprint in the early Universe, which can be deciphered in the most metal-poor stars in the halo of our Galaxy. Aims: Rotation has been shown to play a determinant role at very low metallicity, bringing heavy mass loss where almost none was expected. Is this still true when the metallicity strictly equals zero? The aim of our study is to answer this question, and to determine how rotation changes the evolution and the chemical signature of the primordial stars. Methods: We have calculated seven differentially-rotating stellar models at zero metallicity, with masses between 9 and 200 M⊙. For each mass, we also calculated a corresponding model without rotation. The evolution is followed up to the pre-supernova stage. Results: We find that Z=0 models rotate with an internal profile Ω(r) close to local angular momentum conservation, because of a very weak core-envelope coupling. Rotational mixing drives an H-shell boost due to a sudden onset of the CNO cycle in the shell. This boost leads to a high 14N production, which can be as much as 106 times higher than the production of the non-rotating models. Generally, the rotating models produce much more metal than their non-rotating counterparts. The mass loss is very low, even for the models that reach critical velocity during the main sequence. It may however have an impact on the chemical enrichment of the Universe, because some of the stars are supposed to collapse directly into black holes. They would contribute to the enrichment only through their winds. While in that case non-rotating stars would not contribute at all, rotating stars may leave an imprint on their surrounding. Due to the low mass loss and the weak coupling, the core retains a high angular momentum at the end of the

  2. The heterozygous disproportionate micromelia (dmm) mouse: morphological changes in fetal cartilage precede postnatal dwarfism and compared with lethal homozygotes can explain the mild phenotype.

    Science.gov (United States)

    Seegmiller, Robert E; Bomsta, Brandon D; Bridgewater, Laura C; Niederhauser, Cindy M; Montaño, Carolina; Sudweeks, Sterling; Eyre, David R; Fernandes, Russell J

    2008-11-01

    The disproportionate micromelia (Dmm) mouse has a mutation in the C-propeptide coding region of the Col2a1 gene that causes lethal dwarfism when homozygous (Dmm/Dmm) but causes only mild dwarfism observable approximately 1-week postpartum when heterozygous (Dmm/+). The purpose of this study was 2-fold: first, to analyze and quantify morphological changes that precede the expression of mild dwarfism in Dmm/+ animals, and second, to compare morphological alterations between Dmm/+ and Dmm/Dmm fetal cartilage that may correlate with the marked skeletal differences between mild and lethal dwarfism. Light and electron transmission microscopy were used to visualize structure of chondrocytes and extracellular matrix (ECM) of fetal rib cartilage. Both Dmm/+ and Dmm/Dmm fetal rib cartilage had significantly larger chondrocytes, greater cell density, and less ECM per unit area than +/+ littermates. Quantitative RT-PCR showed a decrease in aggrecan mRNA in Dmm/+ vs +/+ cartilage. Furthermore, the cytoplasm of chondrocytes in Dmm/+ and Dmm/Dmm cartilage was occupied by significantly more distended rough endoplasmic reticulum (RER) compared with wild-type chondrocytes. Fibril diameters and packing densities of +/+ and Dmm/+ cartilage were similar, but Dmm/Dmm cartilage showed thinner, sparsely distributed fibrils. These findings support the prevailing hypothesis that a C-propeptide mutation could interrupt the normal assembly and secretion of Type II procollagen trimers, resulting in a buildup of proalpha1(II) chains in the RER and a reduced rate of matrix synthesis. Thus, intracellular entrapment of proalpha1(II) seems to be primarily responsible for the dominant-negative effect of the Dmm mutation in the expression of dwarfism.

  3. Effect of accretion on primordial black holes in Brans-Dicke theory

    International Nuclear Information System (INIS)

    Nayak, B.; Singh, L. P.; Majumdar, A. S.

    2009-01-01

    We consider the effect of accretion of radiation in the early Universe on primordial black holes in Brans-Dicke theory. The rate of growth of a primordial black hole due to accretion of radiation in Brans-Dicke theory is considerably smaller than the rate of growth of the cosmological horizon, thus making available sufficient radiation density for the black hole to accrete causally. We show that accretion of radiation by Brans-Dicke black holes overrides the effect of Hawking evaporation during the radiation dominated era. The subsequent evaporation of the black holes in later eras is further modified due to the variable gravitational 'constant', and they could survive up to longer times compared to the case of standard cosmology. We estimate the impact of accretion on modification of the constraint on their initial mass fraction obtained from the γ-ray background limit from presently evaporating primordial black holes.

  4. arXiv Light Primordial Exotic Compact Objects as All Dark Matter

    CERN Document Server

    Raidal, Martti; Vaskonen, Ville; Veermäe, Hardi

    2018-06-13

    The radiation emitted by horizonless exotic compact objects (ECOs), such as wormholes, 2-2-holes, fuzzballs, gravastars, boson stars, collapsed polymers, superspinars etc., is expected to be strongly suppressed when compared to the radiation of black holes. If large primordial curvature fluctuations collapse into such objects instead of black holes, they do not evaporate or evaporate much slower than black holes and could thus constitute all of the dark matter with masses below $M < 10^{-16}M_\\odot.$ We reevaluate the relevant experimental constraints for light ECOs in this mass range and show that very large new parameter space down to ECO masses $M\\sim 10\\,{\\rm TeV}$ opens up for light primordial dark matter. A new dedicated experimental program is needed to test this mass range of primordial dark matter.

  5. Imprint of primordial non-Gaussianity on dark matter halo profiles

    Energy Technology Data Exchange (ETDEWEB)

    Dizgah, Azadeh Moradinezhad; Dodelson, Scott; Riotto, Antonio

    2013-09-01

    We study the impact of primordial non-Gaussianity on the density profile of dark matter halos by using the semi-analytical model introduced recently by Dalal {\\it et al.} which relates the peaks of the initial linear density field to the final density profile of dark matter halos. Models with primordial non-Gaussianity typically produce an initial density field that differs from that produced in Gaussian models. We use the path-integral formulation of excursion set theory to calculate the non-Gaussian corrections to the peak profile and derive the statistics of the peaks of non-Gaussian density field. In the context of the semi-analytic model for halo profiles, currently allowed values for primordial non-Gaussianity would increase the shapes of the inner dark matter profiles, but only at the sub-percent level except in the very innermost regions.

  6. Relativistic effects and primordial non-Gaussianity in the galaxy bias

    International Nuclear Information System (INIS)

    Bartolo, Nicola; Matarrese, Sabino; Riotto, Antonio

    2011-01-01

    When dealing with observables, one needs to generalize the bias relation between the observed galaxy fluctuation field to the underlying matter distribution in a gauge-invariant way. We provide such relation at second-order in perturbation theory adopting the local Eulerian bias model and starting from the observationally motivated uniform-redshift gauge. Our computation includes the presence of primordial non-Gaussianity. We show that large scale-dependent relativistic effects in the Eulerian bias arise independently from the presence of some primordial non-Gaussianity. Furthermore, the Eulerian bias inherits from the primordial non-Gaussianity not only a scale-dependence, but also a modulation with the angle of observation when sources with different biases are correlated

  7. Searching for Primordial Black Holes in the Radio and X-Ray Sky.

    Science.gov (United States)

    Gaggero, Daniele; Bertone, Gianfranco; Calore, Francesca; Connors, Riley M T; Lovell, Mark; Markoff, Sera; Storm, Emma

    2017-06-16

    We model the accretion of gas onto a population of massive primordial black holes in the Milky Way and compare the predicted radio and x-ray emission with observational data. We show that, under conservative assumptions on the accretion process, the possibility that O(10)M_{⊙} primordial black holes can account for all of the dark matter in the Milky Way is excluded at 5σ by a comparison with a Very Large Array radio catalog at 1.4 GHz and at ≃40σ by a comparison with a Chandra x-ray catalog (0.5-8 keV). We argue that this method can be used to identify such a population of primordial black holes with more sensitive future radio and x-ray surveys.

  8. SPRAI: coupling of radiative feedback and primordial chemistry in moving mesh hydrodynamics

    Science.gov (United States)

    Jaura, O.; Glover, S. C. O.; Klessen, R. S.; Paardekooper, J.-P.

    2018-04-01

    In this paper, we introduce a new radiative transfer code SPRAI (Simplex Photon Radiation in the Arepo Implementation) based on the SIMPLEX radiation transfer method. This method, originally used only for post-processing, is now directly integrated into the AREPO code and takes advantage of its adaptive unstructured mesh. Radiated photons are transferred from the sources through the series of Voronoi gas cells within a specific solid angle. From the photon attenuation, we derive corresponding photon fluxes and ionization rates and feed them to a primordial chemistry module. This gives us a self-consistent method for studying dynamical and chemical processes caused by ionizing sources in primordial gas. Since the computational cost of the SIMPLEX method does not scale directly with the number of sources, it is convenient for studying systems such as primordial star-forming haloes that may form multiple ionizing sources.

  9. Ultrastructure of sheep primordial follicles cultured in the presence of indol acetic acid, EGF, and FSH

    DEFF Research Database (Denmark)

    Andrade, Evelyn Rabelo; Hyttel, Poul; Landim-Alvarenga, Fernanda Da Cruz

    2011-01-01

    The aim of this study was to investigate the ultrastructural characteristics of primordial follicles after culturing of sheep ovarian cortical slices in the presence of indol acetic acid (IAA), Epidermal Growth Factor (EGF), and FSH. To evaluate ultrastructure of primordial follicles cultured...... in MEM (control) or in MEM containing IAA, EGF, and FSH, fragments of cultured tissue were processes for transmission electron microscopy. Except in the control, primordial follicles cultured in supplemented media for 6¿d were ultrastructurally normal. They had oocyte with intact nucleus...... and the cytoplasm contained heterogeneous-sized lipid droplets and numerous round or elongated mitochondria with intact parallel cristae were observed. Rough endoplasmic reticulum (RER) was rarely found. The granulosa cells cytoplasm contained a great number of mitochondria and abundant RER. In conclusion...

  10. Isotopic evidence for primordial molecular cloud material in metal-rich carbonaceous chondrites

    DEFF Research Database (Denmark)

    van Kooten, Elishevah M. M. E.; Wielandt, Daniel Kim Peel; Schiller, Martin

    2016-01-01

    product of (26)Al. This correlation is interpreted as reflecting progressive thermal processing of in-falling (26)Al-rich molecular cloud material in the inner Solar System. The thermally unprocessed molecular cloud matter reflecting the nucleosynthetic makeup of the molecular cloud before the last......)Mg*-depleted and (54)Cr-enriched component. This composition is consistent with that expected for thermally unprocessed primordial molecular cloud material before its pollution by stellar-derived (26)Al. The (26)Mg* and (54)Cr compositions of bulk metal-rich chondrites require significant amounts (25......-50%) of primordial molecular cloud matter in their precursor material. Given that such high fractions of primordial molecular cloud material are expected to survive only in the outer Solar System, we infer that, similarly to cometary bodies, metal-rich carbonaceous chondrites are samples of planetesimals...

  11. Features in the primordial power spectrum of double D-term inflation

    International Nuclear Information System (INIS)

    Lesgourgues, Julien

    2000-01-01

    Recently, there has been some interest for building supersymmetric models of double inflation. These models, realistic from a particle physics point of view, predict a broken-scale-invariant power spectrum of primordial cosmological perturbations, that may explain eventual nontrivial features in the present matter power spectrum. In previous works, the primordial spectrum was calculated using analytic slow-roll approximations. However, these models involve a fast second-order phase transition during inflation, with a stage of spinodal instability, and an interruption of slow-roll. For our previous model of double D-term inflation, we simulate numerically the evolution of quantum fluctuations, taking into account the spinodal modes, and we show that the semiclassical approximation can be employed even during the transition, due to the presence of a second inflaton field. The primordial power spectrum possesses a rich structure, and possibly, a non-Gaussian spike on observable scales

  12. On the non-Gaussian correlation of the primordial curvature perturbation with vector fields

    DEFF Research Database (Denmark)

    Kumar Jain, Rajeev; Sloth, Martin Snoager

    2013-01-01

    We compute the three-point cross-correlation function of the primordial curvature perturbation generated during inflation with two powers of a vector field in a model where conformal invariance is broken by a direct coupling of the vector field with the inflaton. If the vector field is identified...... with the electromagnetic field, this correlation would be a non-Gaussian signature of primordial magnetic fields generated during inflation. We find that the signal is maximized for the flattened configuration where the wave number of the curvature perturbation is twice that of the vector field and in this limit...

  13. Implications of a primordial origin for the dispersion in D/H in quasar absorption systems.

    Science.gov (United States)

    Copi, C J; Olive, K A; Schramm, D N

    1998-03-17

    We explore the difficulties with a primordial origin of variations of D/H in quasar absorption systems. In particular we examine options such as a very large-scale inhomogeneity in the baryon content of the universe. We show that very large-scale (much larger than 1 Mpc) isocurvature perturbations are excluded by current cosmic microwave background observations. Smaller-scale ad hoc perturbations (approximately 1 Mpc) still may lead to a large dispersion in primordial abundances but are subject to other constraints.

  14. Laboratory approaches of nuclear reactions involved in primordial and stellar nucleosynthesis

    International Nuclear Information System (INIS)

    Rolfs, C.; California Inst. of Tech., Pasadena

    1986-01-01

    Laboratory-based studies of primordial and stellar nucleosynthesis are reviewed, with emphasis on the nuclear reactions induced by charged particles. The analytical approach used to investigate nuclear reactions associated with stellar reactions is described, as well as the experimental details and procedures used to investigate nuclear reactions induced by charged particles. The present knowledge of some of the key reactions involved in primordial nucleosynthesis is discussed, along with the progress and problems of nuclear reactions involved in the hydrogen and helium burning phases of a star. Finally, a description is given of new experimental techniques which might be useful for future experiments in the field of nuclear astrophysics. (U.K.)

  15. Digging Deeper: Observing Primordial Gravitational Waves below the Binary-Black-Hole-Produced Stochastic Background.

    Science.gov (United States)

    Regimbau, T; Evans, M; Christensen, N; Katsavounidis, E; Sathyaprakash, B; Vitale, S

    2017-04-14

    The merger rate of black hole binaries inferred from the detections in the first Advanced LIGO science run implies that a stochastic background produced by a cosmological population of mergers will likely mask the primordial gravitational wave background. Here we demonstrate that the next generation of ground-based detectors, such as the Einstein Telescope and Cosmic Explorer, will be able to observe binary black hole mergers throughout the Universe with sufficient efficiency that the confusion background can potentially be subtracted to observe the primordial background at the level of Ω_{GW}≃10^{-13} after 5 years of observation.

  16. Inflation with primordial broken power law spectrum as an alternative to the concordance cosmological model

    International Nuclear Information System (INIS)

    Pandolfi, Stefania; Giusarma, Elena; Lattanzi, Massimiliano; Melchiorri, Alessandro

    2010-01-01

    We consider cosmological models with a non-scale-invariant spectrum of primordial perturbations and assess whether they represent a viable alternative to the concordance ΛCDM model. We find that in the framework of a model selection analysis, the WMAP and 2dF data do not provide any conclusive evidence in favor of one or the other kind of model. However, when a marginalization over the entire space of nuisance parameters is performed, models with a modified primordial spectrum and Ω Λ =0 are strongly disfavored.

  17. Microwave background anisotropies and the primordial spectrum of cosmological density fluctuations

    International Nuclear Information System (INIS)

    Suto, Yasushi; Gouda, Naoteru; Sugiyama, Naoshi

    1990-01-01

    Microwave background anisotropies in various cosmological scenarios are studied. In particular, the extent to which nonscale-invariant spectra of the primordial density fluctuations are consistent with the observational upper limits is examined. The resultant constraints are summarized as contours on (n, Omega)-plane, where n is the power-law index of the primordial spectrum of density fuctuations and Omega is the cosmological density parameter. They are compared also with the constraints from the cosmic Mach number test, recently proposed by Ostriker and Suto (1990). The parameter regions which pass both tests are not consistent with the theoretical prejudice inspired by the inflationary model. 44 refs

  18. From electroweak theory to the primordial universe. A synthesis of some experimental results; De la theorie electrofaible a l'univers primordial. Synthese de quelques resultats experimentaux

    Energy Technology Data Exchange (ETDEWEB)

    Ealet, A

    2004-12-15

    Particle physic is based on a theory which can be tested on the current large colliders. Measurements are in a very good agreement with this electroweak theory and no deviation is observed to indicate new physics. What is surprising today is that none of its results agrees with what is known from our universe, neither to explain the primordial baryogenesis, neither to explain the acceleration of the expansion of the Universe. In this work, I come back on some results obtained in the Lep collider, to test the electroweak theory (Higgs and W boson production) and on some measurements of CP violation. I compare them with what can be extrapolated in term of primordial baryogenesis and dark energy density and show that there is no possible agreement in the Standard Model. I finish by some experimental and theoretical views to answer this fundamental question. (author)

  19. Preservation of primordial follicles from lions by slow freezing and xenotransplantation of ovarian cortex into an immunodeficient mouse

    DEFF Research Database (Denmark)

    Wiedemann, C; Hribal, R; Ringleb, J

    2012-01-01

    follicles within the ovarian cortex survived culture when the original sample was from a young healthy lion collected immediately after euthanasia. Within the xenotransplants, the number of primordial follicles decreased after 28 days by 20%, but the relation between primordial and growing follicles changed...

  20. Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7.

    Science.gov (United States)

    Leegwater, Peter A; Vos-Loohuis, Manon; Ducro, Bart J; Boegheim, Iris J; van Steenbeek, Frank G; Nijman, Isaac J; Monroe, Glen R; Bastiaansen, John W M; Dibbits, Bert W; van de Goor, Leanne H; Hellinga, Ids; Back, Willem; Schurink, Anouk

    2016-10-28

    Inbreeding and population bottlenecks in the ancestry of Friesian horses has led to health issues such as dwarfism. The limbs of dwarfs are short and the ribs are protruding inwards at the costochondral junction, while the head and back appear normal. A striking feature of the condition is the flexor tendon laxity that leads to hyperextension of the fetlock joints. The growth plates of dwarfs display disorganized and thickened chondrocyte columns. The aim of this study was to identify the gene defect that causes the recessively inherited trait in Friesian horses to understand the disease process at the molecular level. We have localized the genetic cause of the dwarfism phenotype by a genome wide approach to a 3 Mb region on the p-arm of equine chromosome 14. The DNA of two dwarfs and one control Friesian horse was sequenced completely and we identified the missense mutation ECA14:g.4535550C > T that cosegregated with the phenotype in all Friesians analyzed. The mutation leads to the amino acid substitution p.(Arg17Lys) of xylosylprotein beta 1,4-galactosyltransferase 7 encoded by B4GALT7. The protein is one of the enzymes that synthesize the tetrasaccharide linker between protein and glycosaminoglycan moieties of proteoglycans of the extracellular matrix. The mutation not only affects a conserved arginine codon but also the last nucleotide of the first exon of the gene and we show that it impedes splicing of the primary transcript in cultured fibroblasts from a heterozygous horse. As a result, the level of B4GALT7 mRNA in fibroblasts from a dwarf is only 2 % compared to normal levels. Mutations in B4GALT7 in humans are associated with Ehlers-Danlos syndrome progeroid type 1 and Larsen of Reunion Island syndrome. Growth retardation and ligamentous laxity are common manifestations of these syndromes. We suggest that the identified mutation of equine B4GALT7 leads to the typical dwarfism phenotype in Friesian horses due to deficient splicing of transcripts of

  1. Duck "beak atrophy and dwarfism syndrome" disease complex: Interplay of novel goose parvovirus-related virus and duck circovirus?

    Science.gov (United States)

    Li, P; Li, J; Zhang, R; Chen, J; Wang, W; Lan, J; Xie, Z; Jiang, S

    2018-04-01

    As a newly emerged infectious disease, duck "beak atrophy and dwarfism syndrome (BADS)" disease has caused huge economic losses to waterfowl industry in China since 2015. Novel goose parvovirus-related virus (NGPV) is believed the main pathogen of BADS disease; however, BADS is rarely reproduced by infecting ducks with NGPV alone. As avian circovirus infection causes clinical symptoms similar to BADS, duck circovirus (DuCV) is suspected the minor pathogen of BADS disease. In this study, an investigation was carried out to determine the coinfection of NGPV and DuCV in duck embryos and in ducks with BADS disease. According to our study, the coinfection of emerging NGPV and DuCV was prevalent in East China (Shandong, Jiangsu and Anhui province) and could be vertical transmitted, indicating their cooperative roles in duck BADS disease. © 2018 Blackwell Verlag GmbH.

  2. The future of primordial features with large-scale structure surveys

    International Nuclear Information System (INIS)

    Chen, Xingang; Namjoo, Mohammad Hossein; Dvorkin, Cora; Huang, Zhiqi; Verde, Licia

    2016-01-01

    Primordial features are one of the most important extensions of the Standard Model of cosmology, providing a wealth of information on the primordial Universe, ranging from discrimination between inflation and alternative scenarios, new particle detection, to fine structures in the inflationary potential. We study the prospects of future large-scale structure (LSS) surveys on the detection and constraints of these features. We classify primordial feature models into several classes, and for each class we present a simple template of power spectrum that encodes the essential physics. We study how well the most ambitious LSS surveys proposed to date, including both spectroscopic and photometric surveys, will be able to improve the constraints with respect to the current Planck data. We find that these LSS surveys will significantly improve the experimental sensitivity on features signals that are oscillatory in scales, due to the 3D information. For a broad range of models, these surveys will be able to reduce the errors of the amplitudes of the features by a factor of 5 or more, including several interesting candidates identified in the recent Planck data. Therefore, LSS surveys offer an impressive opportunity for primordial feature discovery in the next decade or two. We also compare the advantages of both types of surveys.

  3. The Primordial Soup Algorithm : a systematic approach to the specification of parallel parsers

    NARCIS (Netherlands)

    Janssen, Wil; Janssen, W.P.M.; Poel, Mannes; Sikkel, Nicolaas; Zwiers, Jakob

    1992-01-01

    A general framework for parallel parsing is presented, which allows for a unitied, systematic approach to parallel parsing. The Primordial Soup Algorithm creates trees by allowing partial parse trees to combine arbitrarily. By adding constraints to the general algorithm, a large, class of parallel

  4. Planck 2015 results: XVII. Constraints on primordial non-Gaussianity

    DEFF Research Database (Denmark)

    Ade, P. A R; Aghanim, N.; Arnaud, M.

    2016-01-01

    The Planck full mission cosmic microwave background (CMB) temperature and E-mode polarization maps are analysed to obtain constraints on primordial non-Gaussianity (NG). Using three classes of optimal bispectrum estimators – separable template-fitting (KSW), binned, and modal – we obtain consiste...

  5. The Observational Determination of the Primordial Helium Abundance: a Y2K Status Report

    Science.gov (United States)

    Skillman, Evan D.

    I review observational progress and assess the current state of the determination of the primordial helium abundance, Yp. At present there are two determinations with non-overlapping errors. My impression is that the errors have been under-estimated in both studies. I review recent work on errors assessment and give suggestions for decreasing systematic errors in future studies.

  6. Gravitational wave production by Hawking radiation from rotating primordial black holes

    Energy Technology Data Exchange (ETDEWEB)

    Dong, Ruifeng; Kinney, William H.; Stojkovic, Dejan, E-mail: ruifengd@buffalo.edu, E-mail: whkinney@buffalo.edu, E-mail: ds77@buffalo.edu [HEPCOS, Department of Physics, SUNY, University at Buffalo, Buffalo, NY 14260-1500 (United States)

    2016-10-01

    In this paper we analyze in detail a rarely discussed question of gravity wave production from evaporating primordial black holes. These black holes emit gravitons which are, at classical level, registered as gravity waves. We use the latest constraints on their abundance, and calculate the power emitted in gravitons at the time of their evaporation. We then solve the coupled system of equations that gives us the evolution of the frequency and amplitude of gravity waves during the expansion of the universe. The spectrum of gravitational waves that can be detected today depends on multiple factors: fraction of the total energy density which was occupied by primordial black holes, the epoch in which they were formed, and quantities like their mass and angular momentum. We conclude that very small primordial black holes which evaporate before the big-bang nucleosynthesis emit gravitons whose spectral energy fraction today can be as large as 10{sup −7.5}. On the other hand, those which are massive enough so that they still exist now can yield a signal as high as 10{sup −6.5}. However, typical frequencies of the gravity waves from primordial black holes are still too high to be observed with the current and near future gravity wave observations.

  7. Genetic Testing for Type 2 Diabetes in High-Risk Children: the Case for Primordial Prevention

    Directory of Open Access Journals (Sweden)

    Jennifer Wessel

    2017-09-01

    Full Text Available Extensive research now demonstrates that lifestyle modification can significantly lower risk of developing type 2 diabetes (T2D in high-risk adults. In children, the evidence for lifestyle modification is not as robust, but the rapidly rising rate of obesity in children coupled with the substantial difficulty in changing behaviors later in life illuminates the need to implement prevention efforts early in the life course of children. Genetic data can now be used early in the life course to identify children at high-risk of developing T2D before traditional clinical measures can detect the presence of prediabetes; a metabolic condition associated with obesity that significantly increases risk for developing T2D.  Such early detection of risk may enable the promotion of “primordial prevention” in which parents implement behavior change for their at risk children.  Young children with genetic risk are a novel target population.  Here we review the literature on genetic testing for prevention as it relates to chronic diseases and specifically use T2D as a model. We discuss the history of primordial prevention, the need for primordial prevention of T2D and the role genetic testing has in primordial prevention of high-risk families.

  8. The atmospheric Cherenkov technique in searches for exploding primordial black holes

    International Nuclear Information System (INIS)

    Danaher, S.; Fegan, D.J.; Porter, N.A.; Weekes, T.C.

    1981-01-01

    The Cherenkov technique has been used with a number of detectors, ranging from 1.5 m 2 mirrors to the Central Receiver Test Facility of 8400 m 2 . Limits have been set to the flux of primordial black holes for various models of the evaporation process. (author)

  9. The future of primordial features with large-scale structure surveys

    Energy Technology Data Exchange (ETDEWEB)

    Chen, Xingang; Namjoo, Mohammad Hossein [Institute for Theory and Computation, Harvard-Smithsonian Center for Astrophysics, 60 Garden Street, Cambridge, MA 02138 (United States); Dvorkin, Cora [Department of Physics, Harvard University, Cambridge, MA 02138 (United States); Huang, Zhiqi [School of Physics and Astronomy, Sun Yat-Sen University, 135 Xingang Xi Road, Guangzhou, 510275 (China); Verde, Licia, E-mail: xingang.chen@cfa.harvard.edu, E-mail: dvorkin@physics.harvard.edu, E-mail: huangzhq25@sysu.edu.cn, E-mail: mohammad.namjoo@cfa.harvard.edu, E-mail: liciaverde@icc.ub.edu [ICREA and ICC-UB, University of Barcelona (IEEC-UB), Marti i Franques, 1, Barcelona 08028 (Spain)

    2016-11-01

    Primordial features are one of the most important extensions of the Standard Model of cosmology, providing a wealth of information on the primordial Universe, ranging from discrimination between inflation and alternative scenarios, new particle detection, to fine structures in the inflationary potential. We study the prospects of future large-scale structure (LSS) surveys on the detection and constraints of these features. We classify primordial feature models into several classes, and for each class we present a simple template of power spectrum that encodes the essential physics. We study how well the most ambitious LSS surveys proposed to date, including both spectroscopic and photometric surveys, will be able to improve the constraints with respect to the current Planck data. We find that these LSS surveys will significantly improve the experimental sensitivity on features signals that are oscillatory in scales, due to the 3D information. For a broad range of models, these surveys will be able to reduce the errors of the amplitudes of the features by a factor of 5 or more, including several interesting candidates identified in the recent Planck data. Therefore, LSS surveys offer an impressive opportunity for primordial feature discovery in the next decade or two. We also compare the advantages of both types of surveys.

  10. The role of primordial emotions in the evolutionary origin of consciousness.

    Science.gov (United States)

    Denton, D A; McKinley, M J; Farrell, M; Egan, G F

    2009-06-01

    Primordial emotions are the subjective element of the instincts which are the genetically programmed behaviour patterns which contrive homeostasis. They include thirst, hunger for air, hunger for food, pain and hunger for specific minerals etc. There are two constituents of a primordial emotion--the specific sensation which when severe may be imperious, and the compelling intention for gratification by a consummatory act. They may dominate the stream of consciousness, and can have plenipotentiary power over behaviour. It is hypothesized that early in animal evolution complex reflex mechanisms in the basal brain subserving homeostatic responses, in concert with elements of the reticular activating system subserving arousal, melded functionally with regions embodied in the progressive rostral development of the telencephalon. This included the emergent limbic and paralimbic areas, and the insula. This phylogenetically ancient organization subserved the origin of consciousness as the primordial emotion, which signalled that the organisms existence was immediately threatened. Neuroimaging confirms major activations in regions of the basal brain during primordial emotions in humans. The behaviour of decorticate humans and animals is discussed in relation to the possible existence of primitive awareness. Neuroimaging of the primordial emotions reveals that rapid gratification of intention by a consummatory act such as ingestion causes precipitate decline of both the initiating sensation and the intention. There is contemporaneous rapid disappearance of particular regions of brain activation which suggests they may be part of the jointly sufficient and severally necessary activations and deactivations which correlate with consciousness [Crick, F. & Koch, C. (2003). A framework for consciousness. NatureNeuroscience,6, 119-126].

  11. Neonatal Death Dwarfism in a Girl with Distinctive Bone Dysplasia Compatible with Grebe Chondrodysplasia: Analysis by CT Scan-based Phenotype

    OpenAIRE

    Ali Al Kaissi; Farid Ben Chehida; Rudolf Ganger; Franz Grill

    2014-01-01

    We report on a female fetus noted to have severe malformative type of skeletal dysplasia on ultrasonography done at 35 weeks gestation. The girl died shortly after birth. Clinical examination showed a fetus with severe dwarfism, extensive long and short bones, and bone deficiencies associated with multiple dislocations. Computed tomography (CT) scan-based phenotype showed a complex constellation of malformations consistent with the diagnosis of Grebe syndrome. Parents being first cousins (con...

  12. Neutral endopeptidase-resistant C-type natriuretic peptide variant represents a new therapeutic approach for treatment of fibroblast growth factor receptor 3-related dwarfism.

    Science.gov (United States)

    Wendt, Daniel J; Dvorak-Ewell, Melita; Bullens, Sherry; Lorget, Florence; Bell, Sean M; Peng, Jeff; Castillo, Sianna; Aoyagi-Scharber, Mika; O'Neill, Charles A; Krejci, Pavel; Wilcox, William R; Rimoin, David L; Bunting, Stuart

    2015-04-01

    Achondroplasia (ACH), the most common form of human dwarfism, is caused by an activating autosomal dominant mutation in the fibroblast growth factor receptor-3 gene. Genetic overexpression of C-type natriuretic peptide (CNP), a positive regulator of endochondral bone growth, prevents dwarfism in mouse models of ACH. However, administration of exogenous CNP is compromised by its rapid clearance in vivo through receptor-mediated and proteolytic pathways. Using in vitro approaches, we developed modified variants of human CNP, resistant to proteolytic degradation by neutral endopeptidase, that retain the ability to stimulate signaling downstream of the CNP receptor, natriuretic peptide receptor B. The variants tested in vivo demonstrated significantly longer serum half-lives than native CNP. Subcutaneous administration of one of these CNP variants (BMN 111) resulted in correction of the dwarfism phenotype in a mouse model of ACH and overgrowth of the axial and appendicular skeletons in wild-type mice without observable changes in trabecular and cortical bone architecture. Moreover, significant growth plate widening that translated into accelerated bone growth, at hemodynamically tolerable doses, was observed in juvenile cynomolgus monkeys that had received daily subcutaneous administrations of BMN 111. BMN 111 was well tolerated and represents a promising new approach for treatment of patients with ACH. Copyright © 2015 by The American Society for Pharmacology and Experimental Therapeutics.

  13. A dominant mutation of TWISTED DWARF 1 encoding an alpha-tubulin protein causes severe dwarfism and right helical growth in rice.

    Science.gov (United States)

    Sunohara, Hidehiko; Kawai, Takayuki; Shimizu-Sato, Sae; Sato, Yutaka; Sato, Kanna; Kitano, Hidemi

    2009-06-01

    Dwarfism is a common type of mutation in many plant species. The pathways and factors regulating biosynthesis and signaling of several plant growth regulators have been clarified through analyses of dwarf mutants in rice, Arabidopsis, pea, and maize. However, the genetic mechanisms controlling dwarfism are not well characterized, and the causal genes underlying most dwarf mutants are still uncovered. Here, we report a dominant mutant, Twisted dwarf 1-1 (Tid1-1), showing dwarfism and twisted growth in rice. Tid1-1 exhibit right helical growth of the leaves and stem and shortening of the roots. They also show an increased number of cells in the shoot apical meristem. Cells in the leaves of Tid1-1 are often ill-shapen, possibly owing to irregular cell division. Cell elongation in roots is suppressed in the elongation zone, and cells in the root apical meristem are enlarged. Map-based cloning of TID1 revealed that it encodes an alpha-tubulin protein comprising microtubules and is an ortholog of Arabidopsis LEFTY genes. Our analysis of the Tid1-1 mutant revealed that the dynamics of microtubules affects not only anisotropic growth in both dicots and monocots, but also meristematic activity and gross plant morphology.

  14. Multicollector High Precision Resolution of Primordial Kr and Xe in Mantle CO2 Well Gases

    Science.gov (United States)

    Holland, G.; Ballentine, C.; Cassidy, M.

    2008-12-01

    Noble gas isotopes in magmatic CO2 well gases provide a unique insight into mantle volatile origin and dynamics [1-3]. Previous work has resolved mantle 20Ne/22Ne ratios consistent with a solar wind irradiated meteoritic source for mantle He and Ne [1]. This is distinct from Solar Wind values that might be expected if the primary mechanism of terrestrial mantle volatile acquisition was through the gravitational capture of solar nebula gases [see 4]. Within the CO2 well gases a primordial component has also been resolved in the non- radiogenic Xe isotopic composition [2,3]. Using multicollector mass spectrometry we have observed a 124Xe/130Xe excess of 1.85 percent over air plus/minus 0.17 percent for the least air contaminated samples. At this level of precision we are for the first time able to differentiate between a trapped meteoritic origin (average carbonaceous chondrite or Q Xe) rather than Solar Wind origin as the primordial Xe component. The well gases also contain Kr which, in the least air contaminated sample, have a correlated 86Kr/82Kr excess of 0.55 percent over air plus/minus 0.04 percent. Whilst mass dependent fractionation can theoretically produce correlated excesses in 124Xe-128Xe and 82Kr-86Kr isotopes, no fractionation from air is observed in 38Ar/36Ar [3] and the Kr excesses are in the opposite sense to that of Xe. From 136Xe excesses, Kr fission yield from Pu and U can be calculated and subtracted from the Kr isotopic signature. This fission-corrected signature is most reasonably explained as a primordial component. This is the first time that primordial Kr has ever been resolved in a terrestrial sample. The primordial Kr isotopic signature is distinct from Solar Wind Kr and is consistent with the primordial Kr also originating as a trapped component within meteorites. We are now able to demonstrate that both the light (He and Ne) and Heavy (Kr and Xe) noble gas origin in the terrestrial mantle is consistent with a trapped component during the

  15. El lugar del padre primordial en Moisés y la religión monoteísta: Algunas conclusiones The Place Of The Primordial Father In Moses And Monotheism: Some Conclusions

    Directory of Open Access Journals (Sweden)

    Laura Edith Raffaini

    2008-12-01

    Full Text Available En Moisés y la religión monoteísta Freud desarrolla su última versión del padre. En este trabajo, analizo el lugar que ocupa el padre primordial de Tótem y tabú a partir de dicha versión. Presento, asimismo, un movimiento teórico fundamental en la teoría freudiana sobre el padre: el pasaje del padre primordial a la religión del padre como producto de la neurosis.In "Moses and Monotheism" Freud's ultimate version of the father is described. In this paper, the place the primordial father in "Totem und Tabu" occupies is established based on such version. The transition from the primordial father to the religion of the father as a neurosis product is analysed.

  16. Formation of primordial black holes from non-Gaussian perturbations produced in a waterfall transition

    Science.gov (United States)

    Bugaev, Edgar; Klimai, Peter

    2012-05-01

    We consider the process of primordial black hole (PBH) formation originated from primordial curvature perturbations produced during waterfall transition (with tachyonic instability), at the end of hybrid inflation. It is known that in such inflation models, rather large values of curvature perturbation amplitudes can be reached, which can potentially cause a significant PBH production in the early Universe. The probability distributions of density perturbation amplitudes in this case can be strongly non-Gaussian, which requires a special treatment. We calculated PBH abundances and PBH mass spectra for the model and analyzed their dependence on model parameters. We obtained the constraints on the parameters of the inflationary potential, using the available limits on βPBH.

  17. Stochastic Gravitational-Wave Background due to Primordial Binary Black Hole Mergers.

    Science.gov (United States)

    Mandic, Vuk; Bird, Simeon; Cholis, Ilias

    2016-11-11

    Recent Advanced LIGO detections of binary black hole mergers have prompted multiple studies investigating the possibility that the heavy GW150914 binary system was of primordial origin, and hence could be evidence for dark matter in the form of black holes. We compute the stochastic background arising from the incoherent superposition of such primordial binary black hole systems in the Universe and compare it to the similar background spectrum due to binary black hole systems of stellar origin. We investigate the possibility of detecting this background with future gravitational-wave detectors, and conclude that constraining the dark matter component in the form of black holes using stochastic gravitational-wave background measurements will be very challenging.

  18. Simultaneous effect of modified gravity and primordial non-Gaussianity in large scale structure observations

    International Nuclear Information System (INIS)

    Mirzatuny, Nareg; Khosravi, Shahram; Baghram, Shant; Moshafi, Hossein

    2014-01-01

    In this work we study the simultaneous effect of primordial non-Gaussianity and the modification of the gravity in f(R) framework on large scale structure observations. We show that non-Gaussianity and modified gravity introduce a scale dependent bias and growth rate functions. The deviation from ΛCDM in the case of primordial non-Gaussian models is in large scales, while the growth rate deviates from ΛCDM in small scales for modified gravity theories. We show that the redshift space distortion can be used to distinguish positive and negative f NL in standard background, while in f(R) theories they are not easily distinguishable. The galaxy power spectrum is generally enhanced in presence of non-Gaussianity and modified gravity. We also obtain the scale dependence of this enhancement. Finally we define galaxy growth rate and galaxy growth rate bias as new observational parameters to constrain cosmology

  19. Primordial soup was edible: abiotically produced Miller-Urey mixture supports bacterial growth.

    Science.gov (United States)

    Xie, Xueshu; Backman, Daniel; Lebedev, Albert T; Artaev, Viatcheslav B; Jiang, Liying; Ilag, Leopold L; Zubarev, Roman A

    2015-09-28

    Sixty years after the seminal Miller-Urey experiment that abiotically produced a mixture of racemized amino acids, we provide a definite proof that this primordial soup, when properly cooked, was edible for primitive organisms. Direct admixture of even small amounts of Miller-Urey mixture strongly inhibits E. coli bacteria growth due to the toxicity of abundant components, such as cyanides. However, these toxic compounds are both volatile and extremely reactive, while bacteria are highly capable of adaptation. Consequently, after bacterial adaptation to a mixture of the two most abundant abiotic amino acids, glycine and racemized alanine, dried and reconstituted MU soup was found to support bacterial growth and even accelerate it compared to a simple mixture of the two amino acids. Therefore, primordial Miller-Urey soup was perfectly suitable as a growth media for early life forms.

  20. Primordial Radionuclides Distribution and dose Evaluation in Udagamandalam Region of Nilgiris in India

    International Nuclear Information System (INIS)

    Manikandan, N. Muguntha; Selvasekarapandian, S.; Sivakumar, R.; Meenakshisundaram, V.; Raghunath, V. M.

    2001-01-01

    The activity concentration of primordial radionuclides i.e., 238 U series, 232 Th series and 40 K, in soil samples collected from Udagamandalam environment, have been measured by employing NaI (TI) Gamma ray Spectrometer. The absorbed gamma dose rate has also been simultaneously measured by using both environmental radiation dosimeter at each soil sampling location (ambient gamma dose) as well as from the gamma dose derived from the activity concentration of the primordial radionuclides. The results of activity concentration of each radionuclides in soil, absorbed dose rate in air due to soil activity and possible cosmic radiation at each location along with human effective dose equivalent for Udagamandalam environment are presented and discussed

  1. Primordial Radionuclides Distribution and dose Evaluation in Udagamandalam Region of Nilgiris in India

    Energy Technology Data Exchange (ETDEWEB)

    Manikandan, N. Muguntha; Selvasekarapandian, S.; Sivakumar, R.; Meenakshisundaram, V. [Bharathiar Univ., Coimbatore (India); Raghunath, V. M. [Indira Gandhi Center for Atomic Research, Kalpakkam (India)

    2001-09-15

    The activity concentration of primordial radionuclides i.e., {sup 238}U series, {sup 232}Th series and {sup 40}K, in soil samples collected from Udagamandalam environment, have been measured by employing NaI (TI) Gamma ray Spectrometer. The absorbed gamma dose rate has also been simultaneously measured by using both environmental radiation dosimeter at each soil sampling location (ambient gamma dose) as well as from the gamma dose derived from the activity concentration of the primordial radionuclides. The results of activity concentration of each radionuclides in soil, absorbed dose rate in air due to soil activity and possible cosmic radiation at each location along with human effective dose equivalent for Udagamandalam environment are presented and discussed.

  2. From electroweak theory to the primordial universe. A synthesis of some experimental results

    International Nuclear Information System (INIS)

    Ealet, A.

    2004-12-01

    Particle physic is based on a theory which can be tested on the current large colliders. Measurements are in a very good agreement with this electroweak theory and no deviation is observed to indicate new physics. What is surprising today is that none of its results agrees with what is known from our universe, neither to explain the primordial baryogenesis, neither to explain the acceleration of the expansion of the Universe. In this work, I come back on some results obtained in the Lep collider, to test the electroweak theory (Higgs and W boson production) and on some measurements of CP violation. I compare them with what can be extrapolated in term of primordial baryogenesis and dark energy density and show that there is no possible agreement in the Standard Model. I finish by some experimental and theoretical views to answer this fundamental question. (author)

  3. Primordial germ cell biology at the beginning of the XXI century.

    Science.gov (United States)

    De Felici, Massimo

    2009-01-01

    At the XIV Workshop on the Development and Function of the Reproductive Organs held at the Congress Centre of the University of Rome Tor Vergata, Monteporzio Catone, Rome, Italy, the introduction to the first session entitled Mammalian primordial germ cells dedicated to the memory of Anne McLaren, was the occasion for a concise review of the state of art of research on the biology of primordial germ cells (PGCs). This great, unforgettable scientist, who died in a car accident in July 2007, dedicated most of her studies to this field over the last 25 years. Topics briefly reviewed in this Meeting Report are: 1) how the germ line is determined; 2) what are the mechanisms underlying PGC migration; 3) to what extent PGC survival, proliferation and differentiation are cell autonomous or environmentally controlled processes and 4) how the potential for totipotency is retained in PGCs.

  4. Cosmic microwave background bispectrum from primordial magnetic fields on large angular scales.

    Science.gov (United States)

    Seshadri, T R; Subramanian, Kandaswamy

    2009-08-21

    Primordial magnetic fields lead to non-Gaussian signals in the cosmic microwave background (CMB) even at the lowest order, as magnetic stresses and the temperature anisotropy they induce depend quadratically on the magnetic field. In contrast, CMB non-Gaussianity due to inflationary scalar perturbations arises only as a higher-order effect. We propose a novel probe of stochastic primordial magnetic fields that exploits the characteristic CMB non-Gaussianity that they induce. We compute the CMB bispectrum (b(l1l2l3)) induced by such fields on large angular scales. We find a typical value of l1(l1 + 1)l3(l3 + 1)b(l1l2l3) approximately 10(-22), for magnetic fields of strength B0 approximately 3 nG and with a nearly scale invariant magnetic spectrum. Observational limits on the bispectrum allow us to set upper limits on B0 approximately 35 nG.

  5. Chiral primordial blue tensor spectra from the axion-gauge couplings

    Energy Technology Data Exchange (ETDEWEB)

    Obata, Ippei, E-mail: obata@tap.scphys.kyoto-u.ac.jp [Department of Physics, Kyoto University, Kyoto, 606-8502 (Japan)

    2017-06-01

    We suggest the new feature of primordial gravitational waves sourced by the axion-gauge couplings, whose forms are motivated by the dimensional reduction of the form field in the string theory. In our inflationary model, as an inflaton we adopt two types of axion, dubbed the model-independent axion and the model-dependent axion, which couple with two gauge groups with different sign combination each other. Due to these forms both polarization modes of gauge fields are amplified and enhance both helicies of tensor modes during inflation. We point out the possibility that a primordial blue-tilted tensor power spectra with small chirality are provided by the combination of these axion-gauge couplings, intriguingly both amplitudes and chirality are potentially testable by future space-based gravitational wave interferometers such as DECIGO and BBO project.

  6. Search for gravitational waves from primordial black hole binary coalescences in the galactic halo

    International Nuclear Information System (INIS)

    Abbott, B.; Anderson, S.B.; Araya, M.; Armandula, H.; Asiri, F.; Barish, B.C.; Barnes, M.; Barton, M.A.; Bhawal, B.; Billingsley, G.; Black, E.; Blackburn, K.; Bogue, L.; Bork, R.; Brown, D.A.; Busby, D.; Cardenas, L.; Chandler, A.; Chapsky, J.; Charlton, P.

    2005-01-01

    We use data from the second science run of the LIGO gravitational-wave detectors to search for the gravitational waves from primordial black hole binary coalescence with component masses in the range 0.2-1.0M · . The analysis requires a signal to be found in the data from both LIGO observatories, according to a set of coincidence criteria. No inspiral signals were found. Assuming a spherical halo with core radius 5 kpc extending to 50 kpc containing nonspinning black holes with masses in the range 0.2-1.0M · , we place an observational upper limit on the rate of primordial black hole coalescence of 63 per year per Milky Way halo (MWH) with 90% confidence

  7. Non-Gaussian initial conditions in ΛCDM: Newtonian, relativistic, and primordial contributions

    International Nuclear Information System (INIS)

    Bruni, Marco; Hidalgo, Juan Carlos; Meures, Nikolai; Wands, David

    2014-01-01

    The goal of the present paper is to set initial conditions for structure formation at nonlinear order, consistent with general relativity, while also allowing for primordial non-Gaussianity. We use the nonlinear continuity and Raychaudhuri equations, which together with the nonlinear energy constraint, determine the evolution of the matter density fluctuation in general relativity. We solve this equations at first and second order in a perturbative expansion, recovering and extending previous results derived in the matter-dominated limit and in the Newtonian regime. We present a second-order solution for the comoving density contrast in a ΛCDM universe, identifying nonlinear contributions coming from the Newtonian growing mode, primordial non-Gaussianity and intrinsic non-Gaussianity, due to the essential nonlinearity of the relativistic constraint equations. We discuss the application of these results to initial conditions in N-body simulations, showing that relativistic corrections mimic a non-zero nonlinear parameter f NL

  8. Gravitational Waves from Primordial Black Holes and New Weak Scale Phenomena

    OpenAIRE

    Davoudiasl, Hooman; Giardino, Pier Paolo

    2016-01-01

    We entertain the possibility that primordialblack holes of mass $\\sim (10^{26}$--$10^{29})$~g, with Schwarzschild radii of $\\mathcal{O}{\\text{cm}}$, constitute $\\sim 10\\%$ or more of cosmic dark matter, as allowed by various constraints. These black holes would typically originate from cosmological eras corresponding to temperatures $\\mathcal{O}{10-100}$~GeV, and may be associated with first order phase transitions in the visible or hidden sectors. In case these small primordial black holes g...

  9. Low-Metallicity Blue Compact Dwarfs as Templates for Primordial Star Formation

    OpenAIRE

    Hunt, L. K.; Hirashita, H.; Thuan, T. X.; Izotov, Y. I.; Vanzi, L.

    2003-01-01

    Understanding how galaxies formed their first stars is a vital cosmological question, but the study of high-redshift objects, caught in the act of forming their first stars, is difficult. Here we argue that two extremely low-metallicity Blue Compact Dwarf galaxies (BCDs), IZw18 and SBS0335-052, could be local templates for primordial star formation, since both lack evolved ($> $1 Gyr) stellar populations; but they form stars differently.

  10. Cosmological Signature of the Standard Model Higgs Vacuum Instability: Primordial Black Holes as Dark Matter.

    Science.gov (United States)

    Espinosa, J R; Racco, D; Riotto, A

    2018-03-23

    For the current central values of the Higgs boson and top quark masses, the standard model Higgs potential develops an instability at a scale of the order of 10^{11}  GeV. We show that a cosmological signature of such instability could be dark matter in the form of primordial black holes seeded by Higgs fluctuations during inflation. The existence of dark matter might not require physics beyond the standard model.

  11. Neutrino burst of white dwarf being absorbed by a primordial black hole

    CERN Document Server

    Tikhomirov, V V

    2003-01-01

    Primordial black holes (PBHS) of masses M>=5x10 sup 4 g are able to absorb white dwarfs (WD), giving rise to formation of black holes of WD masses. The WD absorption is accomplained by up to 10 sup 5 sup 2 erg neutrino bursts which can be readily detected by modern neutrino detectors. We calculate time characteristics of such a burst in this paper. (authors)

  12. THE ROLE OF METHANOL IN THE CRYSTALLIZATION OF TITAN'S PRIMORDIAL OCEAN

    International Nuclear Information System (INIS)

    Deschamps, Frederic; Mousis, Olivier; Sanchez-Valle, Carmen; Lunine, Jonathan I.

    2010-01-01

    A key parameter that controls the crystallization of primordial oceans in large icy moons is the presence of anti-freeze compounds, which may have maintained primordial oceans over the age of the solar system. Here we investigate the influence of methanol, a possible anti-freeze candidate, on the crystallization of Titan's primordial ocean. Using a thermodynamic model of the solar nebula and assuming a plausible composition of its initial gas phase, we first calculate the condensation sequence of ices in Saturn's feeding zone, and show that in Titan's building blocks methanol can have a mass fraction of ∼4 wt% relative to water, i.e., methanol can be up to four times more abundant than ammonia. We then combine available data on the phase diagram of the water-methanol system and scaling laws derived from thermal convection to estimate the influence of methanol on the dynamics of the outer ice I shell and on the heat transfer through this layer. For a fraction of methanol consistent with the building blocks composition we determined, the vigor of convection in the ice I shell is strongly reduced. The effect of 5 wt% methanol is equivalent to that of 3 wt% ammonia. Thus, if methanol is present in the primordial ocean of Titan, the crystallization may stop, and a sub-surface ocean may be maintained between the ice I and high-pressure ice layers. A preliminary estimate indicates that the presence of 4 wt% methanol and 1 wt% ammonia may result in an ocean of thickness at least 90 km.

  13. Perchlorate Exposure Reduces Primordial Germ Cell Number in Female Threespine Stickleback.

    Directory of Open Access Journals (Sweden)

    Ann M Petersen

    Full Text Available Perchlorate is a common aquatic contaminant that has long been known to affect thyroid function in vertebrates, including humans. More recently perchlorate has been shown to affect primordial sexual differentiation in the aquatic model fishes zebrafish and threespine stickleback, but the mechanism has been unclear. Stickleback exposed to perchlorate from fertilization have increased androgen levels in the embryo and disrupted reproductive morphologies as adults, suggesting that perchlorate could disrupt the earliest stages of primordial sexual differentiation when primordial germ cells (PGCs begin to form the gonad. Female stickleback have three to four times the number of PGCs as males during the first weeks of development. We hypothesized that perchlorate exposure affects primordial sexual differentiation by reducing the number of germ cells in the gonad during an important window of stickleback sex determination at 14-18 days post fertilization (dpf. We tested this hypothesis by quantifying the number of PGCs at 16 dpf in control and 100 mg/L perchlorate-treated male and female stickleback. Perchlorate exposure from the time of fertilization resulted in significantly reduced PGC number only in genotypic females, suggesting that the masculinizing effects of perchlorate observed in adult stickleback may result from early changes to the number of PGCs at a time critical for sex determination. To our knowledge, this is the first evidence of a connection between an endocrine disruptor and reduction in PGC number prior to the first meiosis during sex determination. These findings suggest that a mode of action of perchlorate on adult reproductive phenotypes in vertebrates, including humans, such as altered fecundity and sex reversal or intersex gonads, may stem from early changes to germ cell development.

  14. Exposure to Endocrine Disruptor Induces Transgenerational Epigenetic Deregulation of MicroRNAs in Primordial Germ Cells

    Czech Academy of Sciences Publication Activity Database

    Brieno-Enriguez, M. A.; García-López, J.; Cárdenas, D.B.; Guibert, S.; Cleroux, E.; Děd, Lukáš; de Dios Hourcade, J.; Pěknicová, Jana; Weber, M.; del Mazo, J.

    2015-01-01

    Roč. 10, č. 4 (2015) E-ISSN 1932-6203 R&D Projects: GA ČR(CZ) GAP503/12/1834; GA MŠk(CZ) ED1.1.00/02.0109 Institutional support: RVO:86652036 Keywords : endocrine disruptor * epigenetic s * primordial germ cells * vinclozolin * TUNEL analysis * methylation Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 3.057, year: 2015

  15. Cosmological Signature of the Standard Model Higgs Vacuum Instability: Primordial Black Holes as Dark Matter

    Science.gov (United States)

    Espinosa, J. R.; Racco, D.; Riotto, A.

    2018-03-01

    For the current central values of the Higgs boson and top quark masses, the standard model Higgs potential develops an instability at a scale of the order of 1 011 GeV . We show that a cosmological signature of such instability could be dark matter in the form of primordial black holes seeded by Higgs fluctuations during inflation. The existence of dark matter might not require physics beyond the standard model.

  16. The safe use of a PTEN inhibitor for the activation of dormant mouse primordial follicles and generation of fertilizable eggs.

    Directory of Open Access Journals (Sweden)

    Deepak Adhikari

    Full Text Available Primordial ovarian follicles, which are often present in the ovaries of premature ovarian failure (POF patients or are cryopreserved from the ovaries of young cancer patients who are undergoing gonadotoxic anticancer therapies, cannot be used to generate mature oocytes for in vitro fertilization (IVF. There has been very little success in triggering growth of primordial follicles to obtain fertilizable oocytes due to the poor understanding of the biology of primordial follicle activation.We have recently reported that PTEN (phosphatase and tensin homolog deleted on chromosome ten prevents primordial follicle activation in mice, and deletion of Pten from the oocytes of primordial follicles leads to follicular activation. Consequently, the PTEN inhibitor has been successfully used in vitro to activate primordial follicles in both mouse and human ovaries. These results suggest that PTEN inhibitors could be used in ovarian culture medium to trigger the activation of primordial follicle. To study the safety and efficacy of the use of such inhibitors, we activated primordial follicles from neonatal mouse ovaries by transient treatment with a PTEN inhibitor bpV(HOpic. These ovaries were then transplanted under the kidney capsules of recipient mice to generate mature oocytes. The mature oocytes were fertilized in vitro and progeny mice were obtained after embryo transfer.Long-term monitoring up to the second generation of progeny mice showed that the mice were reproductively active and were free from any overt signs or symptoms of chronic illnesses. Our results indicate that the use of PTEN inhibitors could be a safe and effective way of generating mature human oocytes for use in novel IVF techniques.

  17. Gravitational wave signatures of inflationary models from Primordial Black Hole dark matter

    Energy Technology Data Exchange (ETDEWEB)

    García-Bellido, Juan [Instituto de Física Teórica UAM-CSIC, Universidad Autonóma de Madrid, Cantoblanco, Madrid, 28049 Spain (Spain); Peloso, Marco; Unal, Caner, E-mail: juan.garciabellido@uam.es, E-mail: peloso@physics.umn.edu, E-mail: unal@physics.umn.edu [School of Physics and Astronomy, and Minnesota Institute for Astrophysics, University of Minnesota, Minneapolis, Minnesota, 55455 (United States)

    2017-09-01

    Primordial Black Holes (PBH) could be the cold dark matter of the universe. They could have arisen from large (order one) curvature fluctuations produced during inflation that reentered the horizon in the radiation era. At reentry, these fluctuations source gravitational waves (GW) via second order anisotropic stresses. These GW, together with those (possibly) sourced during inflation by the same mechanism responsible for the large curvature fluctuations, constitute a primordial stochastic GW background (SGWB) that unavoidably accompanies the PBH formation. We study how the amplitude and the range of frequencies of this signal depend on the statistics (Gaussian versus χ{sup 2}) of the primordial curvature fluctuations, and on the evolution of the PBH mass function due to accretion and merging. We then compare this signal with the sensitivity of present and future detectors, at PTA and LISA scales. We find that this SGWB will help to probe, or strongly constrain, the early universe mechanism of PBH production. The comparison between the peak mass of the PBH distribution and the peak frequency of this SGWB will provide important information on the merging and accretion evolution of the PBH mass distribution from their formation to the present era. Different assumptions on the statistics and on the PBH evolution also result in different amounts of CMB μ-distortions. Therefore the above results can be complemented by the detection (or the absence) of μ-distortions with an experiment such as PIXIE.

  18. Primordial non-Gaussianity and power asymmetry with quantum gravitational effects in loop quantum cosmology

    Science.gov (United States)

    Zhu, Tao; Wang, Anzhong; Kirsten, Klaus; Cleaver, Gerald; Sheng, Qin

    2018-02-01

    Loop quantum cosmology provides a resolution of the classical big bang singularity in the deep Planck era. The evolution, prior to the usual slow-roll inflation, naturally generates excited states at the onset of the slow-roll inflation. It is expected that these quantum gravitational effects could leave its fingerprints on the primordial perturbation spectrum and non-Gaussianity, and lead to some observational evidences in the cosmic microwave background. While the impact of the quantum effects on the primordial perturbation spectrum has been already studied and constrained by current data, in this paper we continue to study such effects but now on the non-Gaussianity of the primordial curvature perturbations. We present detailed and analytical calculations of the non-Gaussianity and show explicitly that the corrections due to the quantum effects are at the same magnitude of the slow-roll parameters in the observable scales and thus are well within current observational constraints. Despite this, we show that the non-Gaussianity in the squeezed limit can be enhanced at superhorizon scales and it is these effects that can yield a large statistical anisotropy on the power spectrum through the Erickcek-Kamionkowski-Carroll mechanism.

  19. Reconstruction of the primordial power spectrum of curvature perturbations using multiple data sets

    DEFF Research Database (Denmark)

    Hunt, Paul; Sarkar, Subir

    2014-01-01

    Detailed knowledge of the primordial power spectrum of curvature perturbations is essential both in order to elucidate the physical mechanism (`inflation') which generated it, and for estimating the cosmological parameters from observations of the cosmic microwave background and large-scale struc......Detailed knowledge of the primordial power spectrum of curvature perturbations is essential both in order to elucidate the physical mechanism (`inflation') which generated it, and for estimating the cosmological parameters from observations of the cosmic microwave background and large...... content of the universe. Moreover the deconvolution problem is ill-conditioned so a regularisation scheme must be employed to control error propagation. We demonstrate that `Tikhonov regularisation' can robustly reconstruct the primordial spectrum from multiple cosmological data sets, a significant...... advantage being that both its uncertainty and resolution are then quantified. Using Monte Carlo simulations we investigate several regularisation parameter selection methods and find that generalised cross-validation and Mallow's Cp method give optimal results. We apply our inversion procedure to data from...

  20. Constraining Primordial Black Holes with the EDGES 21-cm Absorption Signal arXiv

    CERN Document Server

    Hektor, Andi; Marzola, Luca; Raidal, Martti; Vaskonen, Ville; Veermäe, Hardi

    The EDGES experiment has recently measured an anomalous global 21-cm spectrum due to hydrogen absorptions at redshifts of about $z\\sim 17$. Model independently, the unusually low temperature of baryons probed by this observable sets strong constraints on any physical process that transfers energy into the baryonic environment at such redshifts. Here we make use of the 21-cm spectrum to derive bounds on the energy injection due to a possible population of ${\\cal O}(1-100) M_\\odot$ primordial black holes, which induce a wide spectrum of radiation during the accretion of the surrounding gas. After calculating the total radiative intensity of a primordial black hole population, we estimate the amount of heat and ionisations produced in the baryonic gas and compute the resulting thermal history of the Universe with a modified version of RECFAST code. Finally, by imposing that the temperature of the gas at $z\\sim 17$ does not exceed the indications of EDGES, we constrain the possible abundance of primordial black h...