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  1. Progeria syndrome: A case report

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    Rastogi Rajul

    2008-01-01

    Full Text Available Progeria is a rare and peculiar combination of dwarfism and premature aging. The incidence is one in several million births. It occurs sporadically and is probably an autosomal recessive syndrome. Though the clinical presentation is usually typical, conventional radiological and biochemical investigations help in confirming the diagnosis. We present a rare case of progeria with most of the radiological features as a pictorial essay.

  2. Hutchinson-Gilford progeria syndrome

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    Zahoor Hussain Daraz

    2017-06-01

    Full Text Available Hutchinson-Gilford progeria syndrome (HGPS is a rare genetic disease in which symptoms of aging are manifested at an early age. In the present report, we describe a 9 months old female child presented with a history of progressive coarsening of skin, failure to thrive and irregular bumps over thighs, buttocks and lower limbs for the last 7½ months. In the course of time, she developed alopecia, hyperpigmented spots over the abdomen with thickening and a typical facial profile of HGPS including micrognathia, absent ear lobules, prominent eyes, loss of eyelashes, eyebrows and a bluish hue over the nose.

  3. Progeria

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    Mohamed Riyaz S

    2009-01-01

    Full Text Available Hutchinson Gilford Progeria Syndrome (HGPS is a rare, sporadic, autosomal dominant syndrome that involves premature ageing and death at early age due to myocardial infarction or stroke. A 30-year-old male with clinical and radiologic features highly suggestive of HGPS is presented here with description of differential diagnosis, dental considerations and review of literature.

  4. Hutchinson-Gilford Progeria Syndrome

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    Gopal G

    2014-08-01

    Full Text Available Hutchinson-Gilford Progeria syndrome (HGPS is a rare pediatric genetic syndrome associated with a characteristic aged appearance very early in life, generally leading to death in the second decade of life. Apart from premature aging, the other notable characteristics of children with HGPS include extreme short stature, prominent superficial veins, poor weight gain, alopecia, as well as various skeletal and cardiovascular pathologies associated with advanced age. The pattern of inheritance of HGPS is uncertain, though both autosomal dominant and autosomal recessive modes have been described. Recent genetic studies have demonstrated mutations in the LMNA gene in children with HGPS. In this article, we report a 16 years old girl who had the phenotypic features of HGPS and was later confirmed to have LMNA mutation by genetic analysis.

  5. Hutchinson-Gilford progeria syndrome: a rare case report

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    Kalegowda Deepadarshan

    2016-04-01

    Full Text Available Progeroid syndromes are characterised by clinical features of physiological aging at an early age. Hutchinson-Gilford progeria syndrome is a type of progeroid syndrome, characterised by abnormal facies, bone abnormalities, sclerodermatous skin changes and retarded physical development. Average life expectancy of progeria patients is 13 years. Herein we are reporting a case of progeria who is 21 years old.

  6. Genetics Home Reference: Hutchinson-Gilford progeria syndrome

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    ... Wilson A. Progeria of stem cells: stem cell exhaustion in Hutchinson-Gilford progeria syndrome. J Gerontol A ... should not be used as a substitute for professional medical care or advice. Users with questions about ...

  7. Hutchinson-Gilford progeria syndrome

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    Agarwal Uma

    2010-01-01

    Full Text Available Progeria is a rare genetic disorder characterized by premature aging, involving the skin, bones, heart, and blood vessels. We report a 4-year-old boy who presented with clinical manifestations of progeria. He had characteristic facies, prominent eyes, scalp and leg veins, senile look, loss of scalp hair, eyebrows and eyelashes, stunted growth, and sclerodermatous changes. The present case is reported due to its rarity.

  8. Immortalization of Werner syndrome and progeria fibroblasts

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    Saito, H.; Moses, R.E. (Baylor College of Medicine, Houston, TX (USA))

    1991-02-01

    Human fibroblast cells from two different progeroid syndromes, Werner syndrome (WS) and progeria, were established as immortalized cell lines by transfection with plasmid DNA containing the SV40 early region. The lineage of each immortalized cell line was confirmed by VNTR analysis. Each of the immortalized cell lines maintained its original phenotype of slow growth. DNA repair ability of these cells was also studied by measuring sensitivity to killing by uv or the DNA-damaging drugs methyl methansulfonate, bleomycin, and cis-dichlorodiamine platinum. The results showed that both WS and progeria cells have normal sensitivity to these agents.

  9. Progeria

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    Kaur Charandeep

    2000-01-01

    Full Text Available A case of progeria is being reported in a 7-year old boy. He had characteristic facies, short stature, alopecia, high pitched voice, coxa valga and sclerodermatous changes in skin.

  10. Lethal neonatal Hutchinson-Gilford progeria syndrome.

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    Rodríguez, J I; Pérez-Alonso, P; Funes, R; Pérez-Rodríguez, J

    1999-01-29

    We report on a 35-week gestation female fetus with Hutchinson-Gilford progeria (HGP). This patient, who is the first reported with neonatal HGP in the English literature but is the fourth, counting three previous French cases, supports the existence of a more severe prenatal form of progeria. She died 7 hours after birth and presented with intrauterine growth retardation, premature aging, absence of subcutaneous fat, brachydactyly, absent nipples, hypoplastic external genitalia, and abnormal ear lobes. The child's combination of clinical and skeletal manifestations differentiates this form of HGP from other progeroid syndromes with neonatal presentation. We also report previously undescribed autopsy findings including premature loss of hair follicles, premature regression of the renal nephrogenic layer, and premature closure of the growth plates in the distal phalanges that may be related to the aging processes in this condition. We could not find any histological data to support acro-osteolysis, which is the radiographic sign of brachydactyly. The terminal phalanges in HGP seem to be underdeveloped rather than osteolytic.

  11. Progeria

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    Raval Ranjan

    1992-01-01

    Full Text Available An 8-year-old boy presented with clinical manifestations of progeria. He had senile looks, scanty scalp hair, stunted growth, and wrinkled skin with loss of subcutaneous fat. Sclerodermatous changes were found on both thighs and pelvic region, which was confirmed by histopathology.

  12. Progeria (Hutchison - Gilford syndrome in siblings: In an autosomal recessive pattern of inheritance

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    Raghu Tanjore

    2001-09-01

    Full Text Available Progeria is an autosomal dominant, premature aging syndrome. Six and three year old female siblings had sclcrodermatous changes over the extremities, alopecia, beaked nose, prominent veins and bird-like facies. Radiological features were consistent with features of progeria. The present case highlights rarity of progeria in siblings with a possible autosomal recessive pattern.

  13. Hutchinson-Gilford progeria syndrome: review of the phenotype

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    Hennekam, Raoul C. M.

    2006-01-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare but well known entity characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons. Cardiovascular compromise leads

  14. Ocular manifestations in the Hutchinson-Gilford progeria syndrome

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    Shivcharan L Chandravanshi

    2011-01-01

    Full Text Available The Hutchinson-Gilford progeria (HGP syndrome is an extremely rare genetic condition characterized by an appearance of accelerated aging in children. The word progeria is derived from the Greek word progeros meaning ′prematurely old′. It is caused by de novo dominant mutation in the LMNA gene (gene map locus 1q21.2 and characterized by growth retardation and accelerated degenerative changes of the skin, musculoskeletal and cardiovascular systems. The most common ocular manifestations are prominent eyes, loss of eyebrows and eyelashes, and lagophthalmos. In the present case some additional ocular features such as horizontal narrowing of palpebral fissure, superior sulcus deformity, upper lid retraction, upper lid lag in down gaze, poor pupillary dilatation, were noted. In this case report, a 15-year-old Indian boy with some additional ocular manifestations of the HGP syndrome is described.

  15. Hutchinson - Gilford progeria syndrome: A rare case report

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    Subhash Kashyap

    2014-01-01

    Full Text Available Hutchinson - Gilford Progeria Syndrome is a rare genetic disorder characterized by premature aging involving the skin, bones, heart, and blood vessels. We report a three-year-old boy with clinical manifestations characteristic of this syndrome. He had a characteristic "plucked-bird" appearance, prominent eyes and scalp veins, senile look, loss of scalp hair, eyebrows, and eyelashes, stunted growth, and mottled pigmentation with sclerodermatous changes over the trunk and lower limbs. Radiological changes and decreased high-density lipoprotein (HDL levels were also characteristic of the syndrome. This interesting case is reported for its rarity.

  16. A case of progeria syndrome treated as VIP patient

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    Seema Mahant, Mahant PD, C.M. Reddy

    2014-11-01

    Full Text Available Progeria is rare autosomal recessive genetic disease with an incidence of about one in eight million. He was 16 years old boy lying on the couch. He was short stature thin with minimal subcutaneous tissue, skin was thin and fragile with loss of hair over scalp, eyebrows and eyelashes, and his face was dismorphic with prominent eyes, beaked nose, small jaw and large cranium with visible veins over it. His voice was thin and high pitched. Overall, this gives them an extremely aged nearly 70 -80 years old man look. The patient was a known case of progeria syndrome and he was treated as a VIP patient by all faculty members and staff, though he belongs low socioeconomic status, no political issue with them. But still he was a VIP.

  17. Hutchinson-Gilford Progeria Syndrome: A Rare Genetic Disorder

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    Rajat G. Panigrahi

    2013-01-01

    Full Text Available Hutchinson-Gilford progeria syndrome (HGPS is a rare pediatric genetic syndrome with incidence of one per eight million live births. The disorder is characterised by premature aging, generally leading to death at approximately 13.4 years of age. This is a follow-up study of a 9-year-old male with clinical and radiographic features highly suggestive of HGPS and presented here with description of differential diagnosis and dental consideration. This is the first case report of HGPS which showed pectus carinatum structure of chest.

  18. A prospective study of radiographic manifestations in Hutchinson-Gilford progeria syndrome

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    Cleveland, Robert H. [Harvard Medical School, Pediatric Radiology, Children' s Hospital Boston, Boston, MA (United States); Gordon, Leslie B. [Harvard Medical School, Department of Anesthesia, Children' s Hospital Boston, Boston, MA (United States); Warren Alpert Medical School of Brown University, Department of Pediatrics, Hasbro Children' s Hospital, Providence, RI (United States); Kleinman, Monica E. [Harvard Medical School, Department of Anesthesia, Children' s Hospital Boston, Boston, MA (United States); Miller, David T. [Harvard Medical School, Division of Genetics, Children' s Hospital Boston, Boston, MA (United States); Gordon, Catherine M. [Harvard Medical School, Division of Endocrinology and Adolescent Medicine, Children' s Hospital Boston, Boston, MA (United States); Snyder, Brian D. [Harvard Medical School, Department of Orthopedic Surgery, Children' s Hospital Boston, Boston, MA (United States); Nazarian, Ara [Harvard Medical School, Boston, MA (United States); Giobbie-Hurder, Anita [Dana-Farber Cancer Institute, Department of Biostatistics and Computational Biology, Boston, MA (United States); Neuberg, Donna [Dana-Farber Cancer Institute, Department of Biostatistics and Computational Biology, Boston, MA (United States); Harvard School of Public Health, Department of Biostatistics, Boston, MA (United States); Kieran, Mark W. [Dana-Farber Cancer Institute and Children' s Hospital Boston, Division of Pediatric Oncology, Boston, MA (United States)

    2012-09-15

    Progeria is a rare segmental premature aging disease with significant skeletal abnormalities. Defining the full scope of radiologic abnormalities requires examination of a large proportion of the world's progeria population (estimated at 1 in 4 million). There has been no comprehensive prospective study describing the skeletal abnormalities associated with progeria. To define characteristic radiographic features of this syndrome. Thirty-nine children with classic progeria, ages 2-17 years, from 29 countries were studied at a single site. Comprehensive radiographic imaging studies were performed. Sample included 23 girls and 16 boys - the largest number of patients with progeria evaluated prospectively to date. Eight new and two little known progeria-associated radiologic findings were identified (frequencies of 3-36%). Additionally, 23 commonly reported findings were evaluated. Of these, 2 were not encountered and 21 were present and ranked according to their frequency. Nine abnormalities were associated with increasing patient age (P = 0.02-0.0001). This study considerably expands the radiographic morphological spectrum of progeria. A better understanding of the radiologic abnormalities associated with progeria and improved understanding of the biology of progerin (the molecule responsible for this disease), will improve our ability to treat the spectrum of bony abnormalities. (orig.)

  19. Molecular ageing in progeroid syndromes: Hutchinson-Gilford progeria syndrome as a model

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    da Nóbrega Raphael

    2009-04-01

    Full Text Available Abstract Hutchinson-Gilford progeria syndrome (HGPS is a rare premature aging disorder that belongs to a group of conditions called laminopathies which affect nuclear lamins. Mutations in two genes, LMNA and ZMPSTE24, have been found in patients with HGPS. The p.G608G LMNA mutation is the most commonly reported mutation. The aim of this work was to compile a comprehensive literature review of the clinical features and genetic mutations and mechanisms of this syndrome as a contribution to health care workers. This review shows the necessity of a more detailed clinical identification of Hutchinson-Gilford progeria syndrome and the need for more studies on the pharmacologic and pharmacogenomic approach to this syndrome.

  20. Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation.

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    Verstraeten, V.L.; Broers, J.L.; Steensel, M.A.M. van; Zinn-Justin, S.; Ramaekers, F.C.S.; Steijlen, P.M.; Kamps, M.; Kuijpers, H.J.; Merckx, D.; Smeets, H.J.M.; Hennekam, R.C.M.; Marcelis, C.L.M.; Wijngaard, A. van de

    2006-01-01

    LMNA-associated progeroid syndromes have been reported with both recessive and dominant inheritance. We report a 2-year-old boy with an apparently typical Hutchinson-Gilford progeria syndrome (HGPS) due to compound heterozygous missense mutations (p.T528M and p.M540T) in LMNA. Both mutations affect

  1. Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation

    NARCIS (Netherlands)

    Verstraeten, Valerie L. R. M.; Broers, Jos L. V.; van Steensel, Maurice A. M.; Zinn-Justin, Sophie; Ramaekers, Frans C. S.; Steijlen, Peter M.; Kamps, Miriam; Kuijpers, Helma J. H.; Merckx, Diane; Smeets, Hubert J. M.; Hennekam, Raoul C. M.; Marcelis, Carlo L. M.; van den Wijngaard, Arthur

    2006-01-01

    LMNA-associated progeroid syndromes have been reported with both recessive and dominant inheritance. We report a 2-year-old boy with an apparently typical Hutchinson-Gilford progeria syndrome (HGPS) due to compound heterozygous missense mutations (p.T528M and p.M540T) in LMNA. Both mutations affect

  2. An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria.

    NARCIS (Netherlands)

    Andressoo, Jaan-Olle; Mitchell, James R; Wit, Jan de; Hoogstraten, Deborah; Volker, Marcel; Toussaint, Wendy; Speksnijder, Ewoud; Beems, Rudolf B; Steeg, Harry van; Jans, Judith; Zeeuw, Chris I de; Jaspers, Nicolaas G J; Raams, Anja; Lehmann, Alan R; Vermeulen, Wim; Hoeijmakers, Jan H J; Horst, Gijsbertus T J van der

    2006-01-01

    Inborn defects in nucleotide excision DNA repair (NER) can paradoxically result in elevated cancer incidence (xeroderma pigmentosum [XP]) or segmental progeria without cancer predisposition (Cockayne syndrome [CS] and trichothiodystrophy [TTD]). We report generation of a knockin mouse model for the

  3. Model of human aging: Recent findings on Werner’s and Hutchinson-Gilford progeria syndromes

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    Shian-ling Ding

    2008-09-01

    Full Text Available Shian-ling Ding1, Chen-Yang Shen2,3,41Department of Nursing, Kang-Ning Junior College of Medical Care and Management, Taipei, Taiwan; 2Institute of Biomedical Sciences, and 3Life Science Library, Academia Sinica, Taipei, Taiwan; 4Graduate Institute of Environmental Science, China Medical University, Taichong, TaiwanAbstract: The molecular mechanisms involved in human aging are complicated. Two progeria syndromes, Werner’s syndrome (WS and Hutchinson-Gilford progeria syndrome (HGPS, characterized by clinical features mimicking physiological aging at an early age, provide insights into the mechanisms of natural aging. Based on recent findings on WS and HGPS, we suggest a model of human aging. Human aging can be triggered by two main mechanisms, telomere shortening and DNA damage. In telomere-dependent aging, telomere shortening and dysfunction may lead to DNA damage responses which induce cellular senescence. In DNA damage-initiated aging, DNA damage accumulates, along with DNA repair deficiencies, resulting in genomic instability and accelerated cellular senescence. In addition, aging due to both mechanisms (DNA damage and telomere shortening is strongly dependent on p53 status. These two mechanisms can also act cooperatively to increase the overall level of genomic instability, triggering the onset of human aging phenotypes.Keywords: human aging, Hutchinson-Gilford Progeria syndrome, Werner syndrome

  4. A lamin A protein isoform overexpressed in Hutchinson–Gilford progeria syndrome interferes with mitosis in progeria and normal cells

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    Cao, Kan; Capell, Brian C.; Erdos, Michael R.; Djabali, Karima; Collins, Francis S.

    2007-01-01

    Hutchinson–Gilford progeria syndrome (HGPS) is a rare genetic disorder characterized by dramatic premature aging. Classic HGPS is caused by a de novo point mutation in exon 11 (residue 1824, C → T) of the LMNA gene, activating a cryptic splice donor and resulting in a mutant lamin A (LA) protein termed “progerin/LAΔ50” that lacks the normal cleavage site to remove a C-terminal farnesyl group. During interphase, irreversibly farnesylated progerin/LAΔ50 anchors to the nuclear membrane and causes characteristic nuclear blebbing. Progerin/LAΔ50's localization and behavior during mitosis, however, are completely unknown. Here, we report that progerin/LAΔ50 mislocalizes into insoluble cytoplasmic aggregates and membranes during mitosis and causes abnormal chromosome segregation and binucleation. These phenotypes are largely rescued with either farnesyltransferase inhibitors or a farnesylation-incompetent mutant progerin/LAΔ50. Furthermore, we demonstrate that small amounts of progerin/LAΔ50 exist in normal fibroblasts, and a significant percentage of these progerin/LAΔ50-expressing normal cells are binucleated, implicating progerin/LAΔ50 as causing similar mitotic defects in the normal aging process. Our findings present evidence of mitotic abnormality in HGPS and may shed light on the general phenomenon of aging. PMID:17360355

  5. Progeria syndrome with characteristic deformation of proximal radius observed on CT

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    Sood, S.; Rao, R.C.K.; Ragav, B.; Berry, M. (All India Inst. of Medical Sciences, New Delhi (India). Dept. of Radio-Diagnosis)

    1991-01-01

    The progeria syndrome (Hutchinson-Gilford) is an uncommon disease. A peculiar shape of the proximal radial metaphyseal region caused by an infolding of the cortex was observed on CT in 2 brothers suffering from this disorder, a feature not previously reported. A brief review of the radiologic literature was undertaken. This new observation needs to be further evaluated as it may provide a clinching diagnostic feature of this disease. (orig.).

  6. Hypoparathyroidism in an Egyptian child with Hutchinson-Gilford progeria syndrome: a case report

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    Kalil Kotb

    2012-01-01

    Full Text Available Abstract Introduction Hutchinson-Gilford progeria syndrome is a rare genetic disorder. It is reported to be present in one in eight million and is characterized by severe growth failure, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, early atherosclerosis and facial features that resemble those of an aged person. Apart from diabetes mellitus, there are no reported abnormalities of thyroid, parathyroid, pituitary or adrenal function. Here, we report the case of a 10-year-old Egyptian child with Hutchinson-Gilford progeria syndrome and hypoparathyroidism. Case presentation A 10-year-old Egyptian boy was referred to our institution for an evaluation of recurrent attacks of muscle cramps, paresthesia of his fingertips and perioral numbness of two months duration. On examination, we found dilated veins present over his scalp with alopecia and frontal bossing, a beaked nose, thin lips, protruding ears, a high pitched voice with sparse hair over his eyebrows and eyelashes and micrognathia but normal dentition. His eyes appeared prominent and our patient appeared to have poor sexual development. A provisional diagnosis of progeria was made, which was confirmed by molecular genetics study. Chvostek's and Trousseau's signs were positive. He had low total calcium (5.4 mg/dL, low ionized calcium (2.3 mg/dL, raised serum phosphate (7.2 mg/dL, raised alkaline phosphatase (118 U/L and low intact parathyroid hormone (1.2 pg/mL levels. He was started on oral calcium salt and vitamin D; his symptoms improved with the treatment and his serum calcium, urinary calcium and alkaline phosphates level were monitored every three months to ensure adequacy of therapy and to avoid hypercalcemia. Conclusion Routine checking of serum calcium, phosphorus and parathyroid hormone will help in the early detection of hypoparathyrodism among children with progeria.

  7. Hypoparathyroidism in an Egyptian child with Hutchinson-Gilford progeria syndrome: a case report.

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    Kalil, Kotb Abbass Metwalley; Fargalley, Hekma Saad

    2012-01-17

    Hutchinson-Gilford progeria syndrome is a rare genetic disorder. It is reported to be present in one in eight million and is characterized by severe growth failure, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, early atherosclerosis and facial features that resemble those of an aged person. Apart from diabetes mellitus, there are no reported abnormalities of thyroid, parathyroid, pituitary or adrenal function. Here, we report the case of a 10-year-old Egyptian child with Hutchinson-Gilford progeria syndrome and hypoparathyroidism. A 10-year-old Egyptian boy was referred to our institution for an evaluation of recurrent attacks of muscle cramps, paresthesia of his fingertips and perioral numbness of two months duration. On examination, we found dilated veins present over his scalp with alopecia and frontal bossing, a beaked nose, thin lips, protruding ears, a high pitched voice with sparse hair over his eyebrows and eyelashes and micrognathia but normal dentition. His eyes appeared prominent and our patient appeared to have poor sexual development. A provisional diagnosis of progeria was made, which was confirmed by molecular genetics study. Chvostek's and Trousseau's signs were positive. He had low total calcium (5.4 mg/dL), low ionized calcium (2.3 mg/dL), raised serum phosphate (7.2 mg/dL), raised alkaline phosphatase (118 U/L) and low intact parathyroid hormone (1.2 pg/mL) levels. He was started on oral calcium salt and vitamin D; his symptoms improved with the treatment and his serum calcium, urinary calcium and alkaline phosphates level were monitored every three months to ensure adequacy of therapy and to avoid hypercalcemia. Routine checking of serum calcium, phosphorus and parathyroid hormone will help in the early detection of hypoparathyrodism among children with progeria.

  8. Simultaneous Shoulder and Hip Dislocation in a 12-Year-Old Girl with Hutchinson-Gilford Progeria Syndrome

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    Shirin Mardookhpour

    2012-06-01

    Full Text Available Hutchinson-Gilford progeria syndrome (HGPS is a rare premature ageing disorder that is characterized by accelerated degenerative changes of the cutaneous, musculoskeletal and cardiovascular systems. Mean age at diagnosis is 2.9 years and generally leading to death at approximately 13 years of age due to myocardial infarction or stroke. Orthopedic manifestations of HGPS are multiple and shoulder dislocation is a rare skeletal trauma in progeria syndrome. Our patient had simultaneous shoulder and hip dislocation associated with a low energy trauma. This subject has not been reported. Treatment accomplished as close reduction under general anesthesia and immobilization.

  9. Radiological Diagnosis of a Rare Premature Aging Genetic Disorder: Progeria (Hutchinson-Gilford Syndrome

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    Haji Mohammed Nazir

    2017-01-01

    Full Text Available Hutchinson-Gilford Progeria Syndrome (HGPS is a rare disease with a combination of short stature, bone abnormalities, premature ageing, and skin changes. Though the physical appearance of these patients is characteristic, there is little emphasis on the characteristic radiological features. In this paper, we report a 16-year-old boy with clinical and radiological features of this rare genetic disorder. He had a characteristic facial appearance with a large head, large eyes, thin nose with beaked tip, small chin, protruding ears, prominent scalp veins, and absence of hair.

  10. Hutchinson-Gilford progeria syndrome with severe calcific aortic valve stenosis

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    Natesh B Hanumanthappa

    2011-01-01

    Full Text Available Hutchinson-Gilford progeria syndrome (HGPS is a rare premature aging syndrome that results from mutation in the Laminin A gene. This case report of a 12-year-old girl with HGPS is presented for the rarity of the syndrome and the classical clinical features that were observed in the patient. All patients with this condition should undergo early and periodic evaluation for cardiovascular diseases. However, the prognosis is poor and management is mainly conservative. There is no proven therapy available. Mortality in this uniformly fatal condition is primarily due to myocardial infarction, strokes or congestive cardiac failure between ages 7 and 21 years due to the rapidly progressive arteriosclerosis involving the large vessels.

  11. Bilateral stenosis of carotid siphon in Hutchinson-Gilford progeria syndrome.

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    Narazaki, Ryo; Makimura, Mika; Sanefuji, Masafumi; Fukamachi, Shigeru; Akiyoshi, Hidetaka; So, Hidenori; Yamamura, Kenichiro; Doisaki, Sayoko; Kojima, Seiji; Ihara, Kenji; Hara, Toshiro; Ohga, Shouichi

    2013-08-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disease, caused by a de novo mutation of lamin-A gene, LMNA G608G. Accumulation of abnormal lamin-A (progerin) compromises nuclear membrane integrity and results in the accelerated senescence. Affected patients show a typical feature of birdlike face, alopecia, sclerotic skin, loss of subcutaneous fat, and short stature with advancing years. Neonatal scleroderma is the first presentation, although early diagnosis is challenging. The leading cause of death is cardio-/cerebro-vascular accidents associated with atherosclerosis. However, not all findings may recapitulate the aging process. We herein report a 9-year-old Japanese male with HGPS who developed cerebral infarction. The genetic study of peripheral blood-derived DNA determined a heterozygous c.1824C>T mutation, p.G608G. Telomere length of lymphocytes was normal. Bilateral stenosis of carotid siphons was prominent, while systemic arteriosclerosis was unremarkable assessed by the ankle-brachial index, carotid ultrasound imaging and funduscopic study. HGPS patients have marked loss and functional defects in vascular smooth muscle cells, leading to the vulnerability to circulatory stress. Symmetrical stenosis of siphons might occur as a distinctive cerebral vasculopathy of HGPS, rather than simple vascular senescence. Peripheral blood study on LMNA G608G and telomere length could screen progerias in infancy for early therapeutic intervention. Copyright © 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  12. A 36 years old woman with Hutchinson-Gilford Progeria Syndrome: a case report

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    Akrami S M

    2007-10-01

    Full Text Available Background: Hutchinson-Gilford Progeria Syndrome (HGPS is a very rare genetic disorder with a frequency of 1 in 8 million live births. It is characterised by premature aging phenotype. The median age at death is 13.4 years. It is an autosomal dominat disease due to a de novo point mutation in the Lamin A gene exon 11 in the majority of cases. More than 100 cases have been reported world wide."nCase report: We describe here an exceptionally long-lived patient with HGPS, who is alive at age 36. She was referred by a cardiologist to our endocrinology clinic to be worked up for presence of a metabolic or genetic disorder before a heart surgery."nResults: Having more attention of clinicians about very rare diseases and referring the patients to geneticist are the main goals of this case report as well as describing the disease.

  13. Hip pathology in Hutchinson-Gilford progeria syndrome: a report of two children.

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    Akhbari, Pouya; Jha, Shilpa; James, Kyle D; Hinves, Barry L; Buchanan, Jamie A F

    2012-11-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder. The estimated incidence is one in 4 million births. Orthopaedic manifestations include abnormality of the hips occurring early in the disease process. Severe coxa valga can be apparent by the age of 2 years. We report two cases of HGPS, one in a 7-year-old girl with avascular necrosis of the left hip and the second in a 13-year-old girl with recurrent traumatic hip dislocations. We demonstrate the pathoanatomical changes in the hip with HGPS using a combination of imaging modalities including radiographic, computed tomographic and MRI scans. These include coxa magna, coxa valga and acetabular dysplasia. We also comment on how these would affect the surgical management of this high-risk group of patients. © 2012 Wolters Kluwer Health | Lippincott Williams & Wilkins.

  14. Transient monoparesis following blade plate removal in a Hutchinson-Gilford progeria syndrome patient. A case report

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    Yandow, Suzanne M.; Rimoin, David L.; Grace, Aimee M.; Fillman, Ramona R.; Raney, Ellen M.

    2009-01-01

    Treating patients with Hutchinson-Gilford progeria syndrome (HGPS) are based on the abnormalities of accelerated aging that affect the healing processes, combined with a fragile cardiovascular status. A classic HGPS case is presented, of Korean ancestry, who was treated for severe coxa valga with bilateral varus osteotomies using blade plate fixation. Complications over the blade plate area required removal of the hardware, after which the patient displayed left-sided hypertonicity--determine...

  15. Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome.

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    Donadille, Bruno; D'Anella, Pascal; Auclair, Martine; Uhrhammer, Nancy; Sorel, Marc; Grigorescu, Romulus; Ouzounian, Sophie; Cambonie, Gilles; Boulot, Pierre; Laforêt, Pascal; Carbonne, Bruno; Christin-Maitre, Sophie; Bignon, Yves-Jean; Vigouroux, Corinne

    2013-07-12

    Laminopathies, due to mutations in LMNA, encoding A type-lamins, can lead to premature ageing and/or lipodystrophic syndromes, showing that these diseases could have close physiopathological relationships. We show here that lipodystrophy and extreme insulin resistance can also reveal the adult progeria Werner syndrome linked to mutations in WRN, encoding a RecQ DNA helicase. We analysed the clinical and biological features of two women, aged 32 and 36, referred for partial lipodystrophic syndrome which led to the molecular diagnosis of Werner syndrome. Cultured skin fibroblasts from one patient were studied. Two normal-weighted women presented with a partial lipodystrophic syndrome with hypertriglyceridemia and liver steatosis. One of them had also diabetes. Both patients showed a peculiar, striking lipodystrophic phenotype with subcutaneous lipoatrophy of the four limbs contrasting with truncal and abdominal fat accumulation. Their oral glucose tolerance tests showed extremely high levels of insulinemia, revealing major insulin resistance. Low serum levels of sex-hormone binding globulin and adiponectin suggested a post-receptor insulin signalling defect. Other clinical features included bilateral cataracts, greying hair and distal skin atrophy. We observed biallelic WRN null mutations in both women (p.Q748X homozygous, and compound heterozygous p.Q1257X/p.M1329fs). Their fertility was decreased, with preserved menstrual cycles and normal follicle-stimulating hormone levels ruling out premature ovarian failure. However undetectable anti-müllerian hormone and inhibin B indicated diminished follicular ovarian reserve. Insulin-resistance linked ovarian hyperandrogenism could also contribute to decreased fertility, and the two patients became pregnant after initiation of insulin-sensitizers (metformin). Both pregnancies were complicated by severe cervical incompetence, leading to the preterm birth of a healthy newborn in one case, but to a second trimester

  16. Transgene silencing of the Hutchinson-Gilford progeria syndrome mutation results in a reversible bone phenotype, whereas resveratrol treatment does not show overall beneficial effects

    DEFF Research Database (Denmark)

    Strandgren, Charlotte; Nasser, Hasina Abdul; McKenna, Tomás

    2015-01-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder that is most commonly caused by a de novo point mutation in exon 11 of the LMNA gene, c.1824C>T, which results in an increased production of a truncated form of lamin A known as progerin. In this study, we used a mouse...... progerin splicing give hope to patients who are affected by HGPS.-Strandgren, C., Nasser, H. A., McKenna, T., Koskela, A., Tuukkanen, J., Ohlsson, C., Rozell, B., Eriksson, M. Transgene silencing of the Hutchinson-Gilford progeria syndrome mutation results in a reversible bone phenotype, whereas...

  17. Transient monoparesis following blade plate removal in a Hutchinson-Gilford progeria syndrome patient. A case report

    Science.gov (United States)

    Yandow, Suzanne M.; Rimoin, David L.; Grace, Aimee M.; Fillman, Ramona R.; Raney, Ellen M.

    2010-01-01

    Treating patients with Hutchinson-Gilford progeria syndrome (HGPS) are based on the abnormalities of accelerated aging that affect the healing processes, combined with a fragile cardiovascular status. A classic HGPS case is presented, of Korean ancestry, who was treated for severe coxa valga with bilateral varus osteotomies using blade plate fixation. Complications over the blade plate area required removal of the hardware, after which the patient displayed left-sided hypertonicity--determined to be a cerebrovascular accident. Subsequently, she returned almost completely to her pre-surgical neurologic status. Perioperative planning for HGPS patients should include risks typically considered in the planning for geriatric patient care. PMID:19373113

  18. Progeria: a new kind of Laminopathy-- report of the First European Symposium on Progeria and creation of EURO-Progeria, a European Consortium on Progeria and related disorders

    NARCIS (Netherlands)

    Brune, Thomas; Bonne, Gisele; Denecke, Jonas; Elcioglu, Nursel; Hennekam, Raoul C. M.; Marquardt, Thorsten; Ozgen, Heval; Stamsnijder, Marjet; Steichen, Elisabeth; Steinmann, Beat; Wehnert, Manfred; Levy, Nicolas

    2004-01-01

    Progeria is a rare, genetically determined condition characterized by accelerated aging in children. Its name is derived from Greek (Geron) and means "prematurely old". The classic type is the Hutchinson-Gilford Progeria Syndrome (HGPS), which was first described in England in 1886 by Dr. Jonathan

  19. Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation

    NARCIS (Netherlands)

    Soria-Valles, Clara; Carrero, Dido; Gabau, Elisabeth; Velasco, Gloria; Quesada, Víctor; Bárcena, Clea; Moens, Marleen; Fieggen, Karen; Möhrcken, Silvia; Owens, Martina; Puente, Diana A.; Asensio, Óscar; Loeys, Bart; Pérez, Ana; Benoit, Valerie; Wuyts, Wim; Lévy, Nicolas; Hennekam, Raoul C.; de Sandre-Giovannoli, Annachiara; López-Otín, Carlos

    2016-01-01

    Background Progeroid syndromes are genetic disorders that recapitulate some phenotypes of physiological ageing. Classical progerias, such as Hutchinson-Gilford progeria syndrome (HGPS), are generally caused by mutations in LMNA leading to accumulation of the toxic protein progerin and consequently,

  20. Using drug treatments to control genome behaviour in normal and Hutchinson-Gilford Progeria Syndrome fibroblasts, with and without hTERT immortalisation

    OpenAIRE

    Bikkul, Mehmet Ural

    2016-01-01

    This thesis was submitted for the award of Doctor of Philosophy and was awarded by Brunel University London Hutchinson-Gilford Progeria Syndrome (HGPS) is an exceedingly rare genetic condition with striking features reminiscent of marked premature ageing. HGPS is commonly caused by a ‘classic’ mutation in the A-type lamin gene, LMNA (G608G). This leads to the expression of an aberrant truncated lamin A protein, progerin. The nuclear lamina is known to anchor chromosomes, stabilising and re...

  1. Blocking protein farnesylation improves nuclear shape abnormalities in keratinocytes of mice expressing the prelamin A variant in Hutchinson-Gilford progeria syndrome

    OpenAIRE

    Wang, Yuexia; Östlund, Cecilia; Worman, Howard J

    2010-01-01

    Hutchinson-Gilford progeria syndrome (HGPS) is an accelerated aging disorder caused by mutations in LMNA leading to expression of a truncated prelamin A variant termed progerin. Whereas a farnesylated polypeptide is normally removed from the carboxyl-terminus of prelamin A during endoproteolytic processing to lamin A, progerin lacks the cleavage site and remains farnesylated. Cultured cells from human subjects with HGPS and genetically modified mice expressing progerin have nuclear morphologi...

  2. The Defective Nuclear Lamina in Hutchinson-Gilford Progeria Syndrome Disrupts the Nucleocytoplasmic Ran Gradient and Inhibits Nuclear Localization of Ubc9▿

    Science.gov (United States)

    Kelley, Joshua B.; Datta, Sutirtha; Snow, Chelsi J.; Chatterjee, Mandovi; Ni, Li; Spencer, Adam; Yang, Chun-Song; Cubeñas-Potts, Caelin; Matunis, Michael J.; Paschal, Bryce M.

    2011-01-01

    The mutant form of lamin A responsible for the premature aging disease Hutchinson-Gilford progeria syndrome (termed progerin) acts as a dominant negative protein that changes the structure of the nuclear lamina. How the perturbation of the nuclear lamina in progeria is transduced into cellular changes is undefined. Using patient fibroblasts and a variety of cell-based assays, we determined that progerin expression in Hutchinson-Gilford progeria syndrome inhibits the nucleocytoplasmic transport of several factors with key roles in nuclear function. We found that progerin reduces the nuclear/cytoplasmic concentration of the Ran GTPase and inhibits the nuclear localization of Ubc9, the sole E2 for SUMOylation, and of TPR, the nucleoporin that forms the basket on the nuclear side of the nuclear pore complex. Forcing the nuclear localization of Ubc9 in progerin-expressing cells rescues the Ran gradient and TPR import, indicating that these pathways are linked. Reducing nuclear SUMOylation decreases the nuclear mobility of the Ran nucleotide exchange factor RCC1 in vivo, and the addition of SUMO E1 and E2 promotes the dissociation of RCC1 and Ran from chromatin in vitro. Our data suggest that the cellular effects of progerin are transduced, at least in part, through reduced function of the Ran GTPase and SUMOylation pathways. PMID:21670151

  3. Progeria in siblings: A rare case report

    Directory of Open Access Journals (Sweden)

    R Sowmiya

    2011-01-01

    Full Text Available Progeria, also known as Hutchinson-Gilford syndrome, is an extremely rare, severe genetic condition wherein symptoms resembling aspects of aging are manifested at an early age. It is an autosomal dominant disorder. It is not seen in siblings of affected children although there are very few case reports of progeria affecting more than one child in a family. Here we are presenting two siblings, a 14-year-old male and a 13-year-old female with features of progeria, suggesting a possible autosomal recessive inheritance.

  4. Lifespan extension by dietary intervention in a mouse model of Cockayne syndrome uncouples early postnatal development from segmental progeria.

    Science.gov (United States)

    Brace, Lear E; Vose, Sarah C; Vargas, Dorathy F; Zhao, Shuangyun; Wang, Xiu-Ping; Mitchell, James R

    2013-12-01

    Cockayne syndrome (CS) is a rare autosomal recessive segmental progeria characterized by growth failure, lipodystrophy, neurological abnormalities, and photosensitivity, but without skin cancer predisposition. Cockayne syndrome life expectancy ranges from 5 to 16 years for the two most severe forms (types II and I, respectively). Mouse models of CS have thus far been of limited value due to either very mild phenotypes, or premature death during postnatal development prior to weaning. The cause of death in severe CS models is unknown, but has been attributed to extremely rapid aging. Here, we found that providing mutant pups with soft food from as late as postnatal day 14 allowed survival past weaning with high penetrance independent of dietary macronutrient balance in a novel CS model (Csa(-/-) | Xpa(-/-)). Survival past weaning revealed a number of CS-like symptoms including small size, progressive loss of adiposity, and neurological symptoms, with a maximum lifespan of 19 weeks. Our results caution against interpretation of death before weaning as premature aging, and at the same time provide a valuable new tool for understanding mechanisms of progressive CS-related progeroid symptoms including lipodystrophy and neurodysfunction. © 2013 the Anatomical Society and John Wiley & Sons Ltd.

  5. Defective lamin A-Rb signaling in Hutchinson-Gilford Progeria Syndrome and reversal by farnesyltransferase inhibition.

    Directory of Open Access Journals (Sweden)

    Jackleen Marji

    Full Text Available Hutchinson-Gilford Progeria Syndrome (HGPS is a rare premature aging disorder caused by a de novo heterozygous point mutation G608G (GGC>GGT within exon 11 of LMNA gene encoding A-type nuclear lamins. This mutation elicits an internal deletion of 50 amino acids in the carboxyl-terminus of prelamin A. The truncated protein, progerin, retains a farnesylated cysteine at its carboxyl terminus, a modification involved in HGPS pathogenesis. Inhibition of protein farnesylation has been shown to improve abnormal nuclear morphology and phenotype in cellular and animal models of HGPS. We analyzed global gene expression changes in fibroblasts from human subjects with HGPS and found that a lamin A-Rb signaling network is a major defective regulatory axis. Treatment of fibroblasts with a protein farnesyltransferase inhibitor reversed the gene expression defects. Our study identifies Rb as a key factor in HGPS pathogenesis and suggests that its modulation could ameliorate premature aging and possibly complications of physiological aging.

  6. Chemical screening identifies ROCK as a target for recovering mitochondrial function in Hutchinson-Gilford progeria syndrome.

    Science.gov (United States)

    Kang, Hyun Tae; Park, Joon Tae; Choi, Kobong; Choi, Hyo Jei Claudia; Jung, Chul Won; Kim, Gyu Ree; Lee, Young-Sam; Park, Sang Chul

    2017-06-01

    Hutchinson-Gilford progeria syndrome (HGPS) constitutes a genetic disease wherein an aging phenotype manifests in childhood. Recent studies indicate that reactive oxygen species (ROS) play important roles in HGPS phenotype progression. Thus, pharmacological reduction in ROS levels has been proposed as a potentially effective treatment for patient with this disorder. In this study, we performed high-throughput screening to find compounds that could reduce ROS levels in HGPS fibroblasts and identified rho-associated protein kinase (ROCK) inhibitor (Y-27632) as an effective agent. To elucidate the underlying mechanism of ROCK in regulating ROS levels, we performed a yeast two-hybrid screen and discovered that ROCK1 interacts with Rac1b. ROCK activation phosphorylated Rac1b at Ser71 and increased ROS levels by facilitating the interaction between Rac1b and cytochrome c. Conversely, ROCK inactivation with Y-27632 abolished their interaction, concomitant with ROS reduction. Additionally, ROCK activation resulted in mitochondrial dysfunction, whereas ROCK inactivation with Y-27632 induced the recovery of mitochondrial function. Furthermore, a reduction in the frequency of abnormal nuclear morphology and DNA double-strand breaks was observed along with decreased ROS levels. Thus, our study reveals a novel mechanism through which alleviation of the HGPS phenotype is mediated by the recovery of mitochondrial function upon ROCK inactivation. © 2017 The Authors. Aging Cell published by the Anatomical Society and John Wiley & Sons Ltd.

  7. Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn

    OpenAIRE

    Reunert, Janine; Wentzell, Rüdiger; Walter, Michael; Jakubiczka, Sibylle; Zenker, Martin; Brune, Thomas; Rust, Stephan; Marquardt, Thorsten

    2012-01-01

    Hutchinson–Gilford progeria syndrome (HGPS) is an important model disease for premature ageing. Affected children appear healthy at birth, but develop the first symptoms during their first year of life. They die at an average age of 13 years, mostly because of myocardial infarction or stroke. Classical progeria is caused by the heterozygous point mutation c.1824C>T in the LMNA gene, which activates a cryptic splice site. The affected protein cannot be processed correctly to mature lamin A, bu...

  8. Progeria: A rare genetic premature ageing disorder

    Directory of Open Access Journals (Sweden)

    Jitendra Kumar Sinha

    2014-01-01

    Full Text Available Progeria is characterized by clinical features that mimic premature ageing. Although the mutation responsible for this syndrome has been deciphered, the mechanism of its action remains elusive. Progeria research has gained momentum particularly in the last two decades because of the possibility of revealing evidences about the ageing process in normal and other pathophysiological conditions. Various experimental models, both in vivo and in vitro, have been developed in an effort to understand the cellular and molecular basis of a number of clinically heterogeneous rare genetic disorders that come under the umbrella of progeroid syndromes (PSs. As per the latest clinical trial reports, Lonafarnib, a farnesyltranferase inhibitor, is a potent ′drug of hope′ for Hutchinson-Gilford progeria syndrome (HGPS and has been successful in facilitating weight gain and improving cardiovascular and skeletal pathologies in progeroid children. This can be considered as the dawn of a new era in progeria research and thus, an apt time to review the research developments in this area highlighting the molecular aspects, experimental models, promising drugs in trial and their implications to gain a better understanding of PSs.

  9. Physical Therapy and Occupational Therapy in Progeria

    Science.gov (United States)

    Physical Therapy and Occupational Therapy in Progeria Information for Families and Caretakers from The Progeria Research Foundation Written ... accelerated aging in children. Children with Progeria need Physical Therapy (PT) and Occupational Therapy (OT) as often as ...

  10. Labor Market Progeria.

    Science.gov (United States)

    Rodeheaver, Dean

    1990-01-01

    Social ambivalence toward women's roles, sexuality, appearance, and aging combine with social standards of attractiveness to create both age and sex discrimination in the workplace. The life expectancy of presentability is shorter among women than men, thus creating an accelerated aging process termed labor market progeria. (SK)

  11. Defective DSB repair correlates with abnormal nuclear morphology and is improved with FTI treatment in Hutchinson-Gilford progeria syndrome fibroblasts

    Energy Technology Data Exchange (ETDEWEB)

    Constantinescu, Dan [Department of Cell Biology-Physiology, University of Pittsburgh, Pittsburgh, PA 15260 (United States); Pittsburgh Development Center, Magee-Women' s Research Institute, University of Pittsburgh, Pittsburgh, PA 15260 (United States); Csoka, Antonei B. [Division of Geriatrics, Department of Medicine, University of Pittsburgh Medical Center, Pittsburgh, PA 15260 (United States); Navara, Christopher S. [Division of Developmental and Regenerative Medicine, Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA 15260 (United States); Pittsburgh Development Center, Magee-Women' s Research Institute, University of Pittsburgh, Pittsburgh, PA 15260 (United States); Schatten, Gerald P., E-mail: schattengp@upmc.edu [Division of Developmental and Regenerative Medicine, Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA 15260 (United States); Department of Cell Biology-Physiology, University of Pittsburgh, Pittsburgh, PA 15260 (United States); Pittsburgh Development Center, Magee-Women' s Research Institute, University of Pittsburgh, Pittsburgh, PA 15260 (United States)

    2010-10-15

    Impaired DSB repair has been implicated as a molecular mechanism contributing to the accelerating aging phenotype in Hutchinson-Gilford progeria syndrome (HGPS), but neither the extent nor the cause of the repair deficiency has been fully elucidated. Here we perform a quantitative analysis of the steady-state number of DSBs and the repair kinetics of ionizing radiation (IR)-induced DSBs in HGPS cells. We report an elevated steady-state number of DSBs and impaired repair of IR-induced DSBs, both of which correlated strongly with abnormal nuclear morphology. We recreated the HGPS cellular phenotype in human coronary artery endothelial cells for the first time by lentiviral transduction of GFP-progerin, which also resulted in impaired repair of IR-induced DSBs, and which correlated with abnormal nuclear morphology. Farnesyl transferase inhibitor (FTI) treatment improved the repair of IR-induced DSBs, but only in HGPS cells whose nuclear morphology was also normalized. Interestingly, FTI treatment did not result in a statistically significant reduction in the higher steady-state number of DSBs. We also report a delay in localization of phospho-NBS1 and MRE11, MRN complex repair factors necessary for homologous recombination (HR) repair, to DSBs in HGPS cells. Our results demonstrate a correlation between nuclear structural abnormalities and the DSB repair defect, suggesting a mechanistic link that may involve delayed repair factor localization to DNA damage. Further, our results show that similar to other HGPS phenotypes, FTI treatment has a beneficial effect on DSB repair.

  12. Naïve adult stem cells from patients with Hutchinson-Gilford progeria syndrome express low levels of progerin in vivo

    Directory of Open Access Journals (Sweden)

    Vera Wenzel

    2012-04-01

    Hutchinson-Gilford progeria syndrome (HGPS, OMIM 176670 is a rare disorder characterized by segmental accelerated aging and early death from coronary artery disease or stroke. Nearly 90% of HGPS sufferers carry a G608G mutation within exon 11 of LMNA, producing a truncated form of prelamin A, referred to as “progerin”. Here, we report the isolation of naïve multipotent skin-derived precursor (SKP cells from dermal fibroblast cultures from HGPS donors. These cells form spheres and express the neural crest marker, nestin, in addition to the multipotent markers, OCT4, Sox2, Nanog and TG30; these cells can self-renew and differentiate into smooth muscle cells (SMCs and fibroblasts. The SMCs derived from the HGPS-SKPs accumulate nuclear progerin with increasing passages. A subset of the HGPS-naïve SKPs express progerin in vitro and in situ in HGPS skin sections. This is the first in vivo evidence that progerin is produced in adult stem cells, and implies that this protein could induce stem cells exhaustion as a mechanism contributing to aging. Our study provides a basis on which to explore therapeutic applications for HGPS stem cells and opens avenues for investigating the pathogenesis of other genetic diseases.

  13. Unique Preservation of Neural Cells in Hutchinson- Gilford Progeria Syndrome Is Due to the Expression of the Neural-Specific miR-9 MicroRNA

    Directory of Open Access Journals (Sweden)

    Xavier Nissan

    2012-07-01

    Full Text Available One puzzling observation in patients affected with Hutchinson-Gilford progeria syndrome (HGPS, who overall exhibit systemic and dramatic premature aging, is the absence of any conspicuous cognitive impairment. Recent studies based on induced pluripotent stem cells derived from HGPS patient cells have revealed a lack of expression in neural derivatives of lamin A, a major isoform of LMNA that is initially produced as a precursor called prelamin A. In HGPS, defective maturation of a mutated prelamin A induces the accumulation of toxic progerin in patient cells. Here, we show that a microRNA, miR-9, negatively controls lamin A and progerin expression in neural cells. This may bear major functional correlates, as alleviation of nuclear blebbing is observed in nonneural cells after miR-9 overexpression. Our results support the hypothesis, recently proposed from analyses in mice, that protection of neural cells from progerin accumulation in HGPS is due to the physiologically restricted expression of miR-9 to that cell lineage.

  14. Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn.

    Science.gov (United States)

    Reunert, Janine; Wentzell, Rüdiger; Walter, Michael; Jakubiczka, Sibylle; Zenker, Martin; Brune, Thomas; Rust, Stephan; Marquardt, Thorsten

    2012-09-01

    Hutchinson-Gilford progeria syndrome (HGPS) is an important model disease for premature ageing. Affected children appear healthy at birth, but develop the first symptoms during their first year of life. They die at an average age of 13 years, mostly because of myocardial infarction or stroke. Classical progeria is caused by the heterozygous point mutation c.1824C>T in the LMNA gene, which activates a cryptic splice site. The affected protein cannot be processed correctly to mature lamin A, but is modified into a farnesylated protein truncated by 50 amino acids (progerin). Three more variations in LMNA result in the same mutant protein, but different grades of disease severity. We describe a patient with the heterozygous LMNA mutation c.1821G>A, leading to neonatal progeria with death in the first year of life. Intracellular lamin A was downregulated in the patient's fibroblasts and the ratio of progerin to lamin A was increased when compared with HGPS. It is suggestive that the ratio of farnesylated protein to mature lamin A determines the disease severity in progeria.

  15. Loss of H3K9me3 Correlates with ATM Activation and Histone H2AX Phosphorylation Deficiencies in Hutchinson-Gilford Progeria Syndrome.

    Directory of Open Access Journals (Sweden)

    Haoyue Zhang

    Full Text Available Compelling evidence suggests that defective DNA damage response (DDR plays a key role in the premature aging phenotypes in Hutchinson-Gilford progeria syndrome (HGPS. Studies document widespread alterations in histone modifications in HGPS cells, especially, the global loss of histone H3 trimethylated on lysine 9 (H3K9me3. In this study, we explore the potential connection(s between H3K9me3 loss and the impaired DDR in HGPS. When cells are exposed to a DNA-damaging agent Doxorubicin (Dox, double strand breaks (DSBs are generated that result in the phosphorylation of histone H2A variant H2AX (gammaH2AX within an hour. We find that the intensities of gammaH2AX foci appear significantly weaker in the G0/G1 phase HGPS cells compared to control cells. This reduction is associated with a delay in the recruitment of essential DDR factors. We further demonstrate that ataxia-telangiectasia mutated (ATM is responsible for the amplification of gammaH2AX signals at DSBs during G0/G1 phase, and its activation is inhibited in the HGPS cells that display significant loss of H3K9me3. Moreover, methylene (MB blue treatment, which is known to save heterochromatin loss in HGPS, restores H3K9me3, stimulates ATM activity, increases gammaH2AX signals and rescues deficient DDR. In summary, this study demonstrates an early DDR defect of attenuated gammaH2AX signals in G0/G1 phase HGPS cells and provides a plausible connection between H3K9me3 loss and DDR deficiency.

  16. Discordant gene expression signatures and related phenotypic differences in lamin A- and A/C-related Hutchinson-Gilford progeria syndrome (HGPS.

    Directory of Open Access Journals (Sweden)

    Martina Plasilova

    Full Text Available Hutchinson-Gilford progeria syndrome (HGPS is a genetic disorder displaying features reminiscent of premature senescence caused by germline mutations in the LMNA gene encoding lamin A and C, essential components of the nuclear lamina. By studying a family with homozygous LMNA mutation (K542N, we showed that HGPS can also be caused by mutations affecting both isoforms, lamin A and C. Here, we aimed to elucidate the molecular mechanisms underlying the pathogenesis in both, lamin A- (sporadic and lamin A and C-related (hereditary HGPS. For this, we performed detailed molecular studies on primary fibroblasts of hetero- and homozygous LMNA K542N mutation carriers, accompanied with clinical examinations related to the molecular findings. By assessing global gene expression we found substantial overlap in altered transcription profiles (13.7%; 90/657 in sporadic and hereditary HGPS, with 83.3% (75/90 concordant and 16.7% (15/90 discordant transcriptional changes. Among the concordant ones we observed down-regulation of TWIST2, whose inactivation in mice and humans leads to loss of subcutaneous fat and dermal appendages, and loss of expression in dermal fibroblasts and periadnexial cells from a LMNA(K542N/K542N patient further confirming its pivotal role in skin development. Among the discordant transcriptional profiles we identified two key mediators of vascular calcification and bone metabolism, ENPP1 and OPG, which offer a molecular explanation for the major phenotypic differences in vascular and bone disease in sporadic and hereditary HGPS. Finally, this study correlates reduced TWIST2 and OPG expression with increased osteocalcin levels, thereby linking altered bone remodeling to energy homeostasis in hereditary HGPS.

  17. Dermal fibroblasts in Hutchinson-Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress

    Directory of Open Access Journals (Sweden)

    Worman Howard J

    2005-06-01

    Full Text Available Abstract Background Hutchinson-Gilford progeria syndrome (HGPS, OMIM 176670 is a rare sporadic disorder with an incidence of approximately 1 per 8 million live births. The phenotypic appearance consists of short stature, sculptured nose, alopecia, prominent scalp veins, small face, loss of subcutaneous fat, faint mid-facial cyanosis, and dystrophic nails. HGPS is caused by mutations in LMNA, the gene that encodes nuclear lamins A and C. The most common mutation in subjects with HGPS is a de novo single-base pair substitution, G608G (GGC>GGT, within exon 11 of LMNA. This creates an abnormal splice donor site, leading to expression of a truncated protein. Results We studied a new case of a 5 year-old girl with HGPS and found a heterozygous point mutation, G608G, in LMNA. Complementary DNA sequencing of RNA showed that this mutation resulted in the deletion of 50 amino acids in the carboxyl-terminal tail domain of prelamin A. We characterized a primary dermal fibroblast cell line derived from the subject's skin. These cells expressed the mutant protein and exhibited a normal growth rate at early passage in primary culture but showed alterations in nuclear morphology. Expression levels and overall distributions of nuclear lamins and emerin, an integral protein of the inner nuclear membrane, were not dramatically altered. Ultrastructural analysis of the nuclear envelope using electron microscopy showed that chromatin is in close association to the nuclear lamina, even in areas with abnormal nuclear envelope morphology. The fibroblasts were hypersensitive to heat shock, and demonstrated a delayed response to heat stress. Conclusion Dermal fibroblasts from a subject with HGPS expressing a mutant truncated lamin A have dysmorphic nuclei, hypersensitivity to heat shock, and delayed response to heat stress. This suggests that the mutant protein, even when expressed at low levels, causes defective cell stability, which may be responsible for phenotypic

  18. Stem cell aging in adult progeria

    Directory of Open Access Journals (Sweden)

    Hoi-Hung Cheung

    2015-01-01

    Full Text Available Aging is considered an irreversible biological process and also a major risk factor for a spectrum of geriatric diseases. Advanced age-related decline in physiological functions, such as neurodegeneration, development of cardiovascular disease, endocrine and metabolic dysfunction, and neoplastic transformation, has become the focus in aging research. Natural aging is not regarded as a programmed process. However, accelerated aging due to inherited genetic defects in patients of progeria is programmed and resembles many aspects of natural aging. Among several premature aging syndromes, Werner syndrome (WS and Hutchinson–Gilford progeria syndrome (HGPS are two broadly investigated diseases. In this review, we discuss how stem cell aging in WS helps us understand the biology of aging. We also discuss briefly how the altered epigenetic landscape in aged cells can be reversed to a “juvenile” state. Lastly, we explore the potential application of the latest genomic editing technique for stem cell-based therapy and regenerative medicine in the context of aging.

  19. The two-faced progeria gene and its implications in aging and metabolism

    NARCIS (Netherlands)

    Chatzispyrou, Iliana A.; Houtkooper, Riekelt H.

    2014-01-01

    Premature aging syndromes have gained much attention, not only because of their devastating symptoms but also because they might hold a key to some of the mechanisms underlying aging. The Hutchinson-Gilford progeria syndrome (HGPS) is caused by a mutation in the LMNA gene, which normally produces

  20. A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS.

    Science.gov (United States)

    Denecke, Jonas; Brune, Thomas; Feldhaus, Tobias; Robenek, Horst; Kranz, Christian; Auchus, Richard J; Agarwal, Anil K; Marquardt, Thorsten

    2006-06-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder normally caused by a spontaneous heterozygous mutation in the LMNA gene that codes for the nuclear lamina protein lamin A. Several enzymes are involved in the processing of its precursor, prelamin A, to the mature lamin A. A functional knockout of one of the enzymes involved in prelamin A processing, the zinc metalloprotease ZMPSTE24, causes an even more severe disorder with early neonatal death described as restrictive dermatopathy (RD). This work describes a HGPS patient with a combined defect of a homozygous loss-of-function mutation in the ZMPSTE24 gene and a heterozygous mutation in the LMNA gene that results in a C-terminal elongation of the final lamin A. Whereas the loss of function mutation of ZMPSTE24 normally results in lethal RD, the truncation of LMNA seems to be a salvage alteration alleviating the clinical picture to the HGPS phenotype. The mutations of our patient indicate that farnesylated prelamin A is the deleterious agent leading to the HGPS phenotype, which gives further insights into the pathophysiology of the disorder. Copyright 2006 Wiley-Liss, Inc.

  1. [Hutchinson-Gilford progeria. A rare case of neonatal occurrence].

    Science.gov (United States)

    Zucchini, A; Bonfiglioli, G; Masignà Ricciardi, M G

    1986-01-01

    A case of Hutchinson-Gilford progeria syndrome is described in which phenotypic and metabolic symptoms were already evident at birth. Both under a clinical and autopsy point of view an early old age of organs and apparatuses was apparent, posing the problem of the reason why an early old aging occurs. The authors mention literature in favour of a genetic control of cellular aging and make the assumption that the genes controlling old age are various and that a greater or lesser presence and incidence of them could justify the earlier or normal appearance of this status.

  2. Progeria

    Science.gov (United States)

    ... urac.org). URAC's accreditation program is an independent audit to verify that A.D.A.M. follows ... the principles of the Health on the Net Foundation (www.hon.ch). The information provided herein should ...

  3. HH 5, HH 6, and their exciting stars

    Science.gov (United States)

    Cohen, Martin; Jones, Burton F.; Hereld, Mark

    1991-01-01

    Long-slit optical spectroscopy, astrometry, and H-alpha forbidden S II and broad-band 2 micron images of HH 5 and of the HH 6 complex have been obtained. The excitations and radial velocities of the individual HH knots are described. The morphology of the optical and the 2 micron images (the latter dominated by H2 emission and/or the continuum of any embedded exciting stars) is compared; and the new astrometry is discussed. Finally, the likely sources of excitation of these HH nebulae are commented on.

  4. The magnetic field geometry in the vicinity of HH 7-11/HH 12 and HH 33/HH 40

    Science.gov (United States)

    Heyer, Mark H.; Strom, Stephen E.; Strom, Karen M.

    1987-01-01

    The small-scale structure of the interstellar magnetic field in the vicinity of the Herbig-Haro objects HH 7-11/HH 12 and HH 33/40 is derived from CCD imaging polarimetry of stars nearby to these young stellar object driven outflows. The outflow associated with SVS 13/HH 7-11 lies approximately parallel to the local field direction. The outflow mapped by HH 33/HH 40 is also well aligned with the local magnetic field. However, the orientation of the outflow associated with HH 12 located 2 arcmin to the north of HH 7-11 is offset from the inferred magnetic field direction by 60 deg. These results taken together with those of previous studies suggest: (1) magnetic fields are directly or indirectly responsible for the observed orientation of outflows associated with newborn stars in the majority of cases; and (2) in some cases, the flow properties may depend upon other characteristics of the parent cloud core.

  5. Progeria Research Foundation Diagnostic Testing Program

    Science.gov (United States)

    ... scientific test to definitively diagnose children with Progeria. What is the Gene for HGPS? The gene responsible for HGPS is called LMNA (pronounced Lamin A). Within this gene there is a change in one element of DNA. This type of gene change is ...

  6. Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation.

    Science.gov (United States)

    Soria-Valles, Clara; Carrero, Dido; Gabau, Elisabeth; Velasco, Gloria; Quesada, Víctor; Bárcena, Clea; Moens, Marleen; Fieggen, Karen; Möhrcken, Silvia; Owens, Martina; Puente, Diana A; Asensio, Óscar; Loeys, Bart; Pérez, Ana; Benoit, Valerie; Wuyts, Wim; Lévy, Nicolas; Hennekam, Raoul C; De Sandre-Giovannoli, Annachiara; López-Otín, Carlos

    2016-06-22

    Progeroid syndromes are genetic disorders that recapitulate some phenotypes of physiological ageing. Classical progerias, such as Hutchinson-Gilford progeria syndrome (HGPS), are generally caused by mutations in LMNA leading to accumulation of the toxic protein progerin and consequently, to nuclear envelope alterations. In this work, we describe a novel phenotypic feature of the progeria spectrum affecting three unrelated newborns and identify its genetic cause. Patients reported herein present an extremely homogeneous phenotype that somewhat recapitulates those of patients with HGPS and mandibuloacral dysplasia. However, pathological signs appear earlier, are more aggressive and present distinctive features including episodes of severe upper airway obstruction. Exome and Sanger sequencing allowed the identification of heterozygous de novo c.163G>A, p.E55K and c.164A>G, p.E55G mutations in LMNA as the alterations responsible for this disorder. Functional analyses demonstrated that fibroblasts from these patients suffer important dysfunctions in nuclear lamina, which generate profound nuclear envelope abnormalities but without progerin accumulation. These nuclear alterations found in patients' dermal fibroblasts were also induced by ectopic expression of the corresponding site-specific LMNA mutants in control human fibroblasts. Our results demonstrate the causal role of p.E55K and p.E55G lamin A mutations in a disorder which manifests novel phenotypic features of the progeria spectrum characterised by neonatal presentation and aggressive clinical evolution, despite being caused by lamin A/C missense mutations with effective prelamin A processing. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  7. Decreased repair of gamma damaged DNA in progeria

    Energy Technology Data Exchange (ETDEWEB)

    Rainbow, A.J.; Howes, M.

    1977-01-01

    A sensitive host-cell reactivation technique was used to examine the DNA repair ability of fibroblasts from two patients with classical progeria. Fibroblasts were infected with either non-irradiated or gamma-irradiated adenovirus type 2 and at 48 hrs after infection cells were examined for the presence of viral structural antigens using immunofluorescent staining. The production of viral structural antigens was considerably reduced in the progeria lines as compared to normal fibroblasts when gamma-irradiated virus was used, indicating a defect in the repair of gamma ray damaged DNA in the progeria cells.

  8. Ammonia downstream from HH 80 North

    Science.gov (United States)

    Girart, Jose M.; Rodriguez, Luis F.; Anglada, Guillem; Estalella, Robert; Torrelles, Jose, M.; Marti, Josep; Pena, Miriam; Ayala, Sandra; Curiel, Salvador; Noriega-Crespo, Alberto

    1994-01-01

    HH 80-81 are two optically visible Herbig-Haro (HH) objects located about 5 minutes south of their exciting source IRAS 18162-2048. Displaced symmetrically to the north of this luminous IRAS source, a possible HH counterpart was recently detected as a radio continuum source with the very large array (VLA). This radio source, HH 80 North, has been proposed to be a member of the Herbig-Haro class since its centimeter flux density, angular size, spectral index, and morphology are all similar to those of HH 80. However, no object has been detected at optical wavelengths at the position of HH 80 North, possibly because of high extinction, and the confirmation of the radio continuum source as an HH object has not been possible. In the prototypical Herbig-Haro objects HH 1 and 2, ammonia emission has been detected downstream of the flow in both objects. This detection has been intepreted as a result of an enhancement in the ammonia emission produced by the radiation field of the shock associated with the HH object. In this Letter we report the detection of the (1,1) and (2,2) inversion transitions of ammonia downstream HH 80 North. This detection gives strong suppport to the interpretation of HH 80 North as a heavily obscured HH object. In addition, we suggest that ammonia emission may be a tracer of embedded Herbig-Haro objects in other regions of star formation. A 60 micrometer IRAS source could be associated with HH 80 North and with the ammonia condensation. A tentative explanation for the far-infrared emission as arising in dust heated by their optical and UV radiation of the HH object is presented.

  9. A Jet Model of HH Objects

    Science.gov (United States)

    Tenorio-Tagle, Guillermo; Rozyczka, Michal; Cantó, Jorge

    It is shown by means of two dimensional hydrodynamical simulations that Canto's model of HH objects does not lead to an entirely stationary flow. It causes both a stationary cylindrical shock (at the interaction place) and a fast moving region emitting an HH spectra. A coherent picture of these phenomena is here presented. The models account for "optical jet" structures embedded in a much larger (>0.1 pc) hydrodynamical jet at the tip of which an HH object should be found.

  10. 31 CFR 353.31 - Series HH bonds.

    Science.gov (United States)

    2010-07-01

    ... 31 Money and Finance: Treasury 2 2010-07-01 2010-07-01 false Series HH bonds. 353.31 Section 353... BONDS, SERIES EE AND HH Interest § 353.31 Series HH bonds. (a) General. Series HH bonds are current income bonds issued at par (face amount). Interest on a Series HH bond is paid semiannually beginning six...

  11. 40 CFR Appendix to Subpart Hh of... - Tables

    Science.gov (United States)

    2010-07-01

    ... 40 Protection of Environment 10 2010-07-01 2010-07-01 false Tables Appendix to Subpart HH of Part..., Subpt. HH, App. Appendix to Subpart HH of Part 63—Tables Table 1 to Subpart HH of Part 63—List of Hazardous Air Pollutants for Subpart HH CAS Number a Chemical name 75070 Acetaldehyde 71432 Benzene...

  12. HH-60D night hawk helicopter

    Science.gov (United States)

    Richardson, C. S.

    1984-01-01

    Fundamental development issues, system requirements and improvements are reported for the HH-60D night hawk helicopter. The HH-60D mission requirements are for combat search and rescue (aerospace rescue and recovery service user based at Scott AFB) and special operations (special operations forces based at Hurlburt AFB). Cockpit design, computer architecture and software are described in detail.

  13. Autophagic degradation of farnesylated prelamin A as a therapeutic approach to lamin-linked progeria

    Directory of Open Access Journals (Sweden)

    V. Cenni

    2011-10-01

    Full Text Available Farnesylated prelamin A is a processing intermediate produced in the lamin A maturation pathway. Accumulation of a truncated farnesylated prelamin A form, called progerin, is a hallmark of the severe premature ageing syndrome, Hutchinson-Gilford progeria. Progerin elicits toxic effects in cells, leading to chromatin damage and cellular senescence and ultimately causes skin and endothelial defects, bone resorption, lipodystrophy and accelerated ageing. Knowledge of the mechanism underlying prelamin A turnover is critical for the development of clinically effective protein inhibitors that can avoid accumulation to toxic levels without impairing lamin A/C expression, which is essential for normal biological functions. Little is known about specific molecules that may target farnesylated prelamin A to elicit protein degradation. Here, we report the discovery of rapamycin as a novel inhibitor of progerin, which dramatically and selectively decreases protein levels through a mechanism involving autophagic degradation. Rapamycin treatment of progeria cells lowers progerin, as well as wild-type prelamin A levels, and rescues the chromatin phenotype of cultured fibroblasts, including histone methylation status and BAF and LAP2alpha distribution patterns. Importantly, rapamycin treatment does not affect lamin C protein levels, but increases the relative expression of the prelamin A endoprotease ZMPSTE24. Thus, rapamycin, an antibiotic belonging to the class of macrolides, previously found to increase longevity in mouse models, can serve as a therapeutic tool, to eliminate progerin, avoid farnesylated prelamin A accumulation, and restore chromatin dynamics in progeroid laminopathies.

  14. The benefit of HH during the CPAP titration in the cool sleeping environment.

    Science.gov (United States)

    Li, Yayong; Wang, Yina

    2016-12-01

    Upper airway symptom associated with continuous positive airway pressure (CPAP) treatment is an important factor influencing CPAP adherence. There are conflicting data on the effect of a heated humidifier (HH) during CPAP titration for patients with obstructive sleep apnea hypopnea syndrome (OSAHS). This study investigated the effects of HH during CPAP titration in the cool sleeping environment. Forty newly diagnosed OSAHS patients who received CPAP titration in the cool sleeping environment were randomly assigned to HH and non-HH groups. A questionnaire was used to evaluate upper airway symptoms, satisfaction with initial CPAP treatment, and willingness to further use CPAP. Some therapy parameters including leak, apnea hypopnea index (AHI) reduction, and optimal CPAP pressure level were analyzed. We compared these subjective and objective data between the two groups. In subjective sensation, the use of HH can alleviate upper airway symptoms associated with CPAP titration (P HH group has benefit in satisfaction with initial CPAP treatment (P HH is recommended during CPAP titration in the cool sleeping environment because of its benefit in the treatment of upper airway symptoms associated with CPAP therapy and improvement of the CPAP acceptance.

  15. Planarian Hh signaling regulates regeneration polarity and links Hh pathway evolution to cilia.

    Science.gov (United States)

    Rink, Jochen C; Gurley, Kyle A; Elliott, Sarah A; Sánchez Alvarado, Alejandro

    2009-12-04

    The Hedgehog (Hh) signaling pathway plays multiple essential roles during metazoan development, homeostasis, and disease. Although core protein components are highly conserved, the variations in Hh signal transduction mechanisms exhibited by existing model systems (Drosophila, fish, and mammals) are difficult to understand. We characterized the Hh pathway in planarians. Hh signaling is essential for establishing the anterior/posterior axis during regeneration by modulating wnt expression. Moreover, RNA interference methods to reduce signal transduction proteins Cos2/Kif27/Kif7, Fused, or Iguana do not result in detectable Hh signaling defects; however, these proteins are essential for planarian ciliogenesis. Our study expands the understanding of Hh signaling in the animal kingdom and suggests an ancestral mechanistic link between Hh signaling and the function of cilia.

  16. Ultraviolet spectra of HH 1 and HH 2 - Spatial variations and the continuum problem

    Science.gov (United States)

    Boehm, K. H.; Raga, A. C.; Buehrke, TH.; Brugel, E. W.; Witt, A. N.

    1987-01-01

    High-SNR 12-hr and 14-hr ultraviolet spectra of HH 1 and HH2 in the IUE short-wavelength range are reported. HH 1 data show a (spatial) half-width of the image size in the C IV 1548-A, 1551-A line which is smaller than the spatial half-width for the semiforbidden C II 1907-A, 1909-A line. A qualitatively similar situation is shown for HH 2, although differences in the image sizes are smaller than for HH 1. The continua of HH 1 and HH2 are found to have a relatively similar wavelength dependence, even in rather small features, and to both have their maxima between 1570 and 1580 A. It is noted that the observed wavelength of the continuum maximum agrees with the position of the maximum of the H2 fluorescence spectrum.

  17. The exciting star of HH 57

    Science.gov (United States)

    Cohen, M.; Dopita, M. A.; Schwartz, R.

    1986-01-01

    The first spectral classification for the exciting star of HH 57 is provided. The star is an F8 III and suffers about 5 mag of visual extinction, far greater than that toward the HH 57A knot, only a few arcseconds away. This difference supports the previous identification of a flattened geometry for the circumstellar dust around this star. Using IRAS photometry, a distance of 940 pc to HH 57 is determined by bolometrically matching the observed luminosity of the star to those of FU Ori and V1057 Cyg.

  18. H-H interactions in Pd

    DEFF Research Database (Denmark)

    Christensen, O. B.; Ditlevsen, Peter; Jacobsen, Karsten Wedel

    1989-01-01

    A discussion of the H-H interactions in a metal is given. Based on self-consistent total-energy calculations within the local-density approximation for H2 in a homogeneous electron gas, we show that metallic electrons make the H-H interaction more repulsive than in vacuum. Using effective......-medium theory to calculate total energies we show the same tendency for the short-range part of the H-H interaction when two H atoms are squeezed into a single site in Pd or PdH. At longer range (of the order a lattice constant) there is an attractive, lattice-mediated H-H interaction. On the basis...

  19. Accelerated aging syndromes, are they relevant to normal human aging?

    OpenAIRE

    Dreesen, Oliver; Stewart, Colin L.

    2011-01-01

    Hutchinson-Gilford Progeria (HGPS) and Werner syndromes are diseases that clinically resemble some aspects of accelerated aging. HGPS is caused by mutations in theLMNA gene resulting in post-translational processing defects that trigger Progeria in children. Werner syndrome, arising from mutations in the WRN helicase gene, causes premature aging in young adults. What are the molecular mechanism(s) underlying these disorders and what aspects of the diseases resemble physiological human aging? ...

  20. Biomechanical Strain Exacerbates Inflammation on a Progeria-on-a-Chip Model

    NARCIS (Netherlands)

    Ribas, J.; Zhang, Y.S.; Pitrez, P.R.; Leijten, Jeroen Christianus Hermanus; Miscuglio, M.; Rouwkema, Jeroen; Dokmeci, M.R.; Nissan, X.; Ferreira, L.; Khademhosseini, A.

    2017-01-01

    A progeria-on-a-chip model is engineered to recapitulate the biomechanical dynamics of vascular disease and aging. The model shows an exacerbated injury response to strain and is rescued by pharmacological treatments. The progeria-on-a-chip is expected to drive the discovery of new drugs and to

  1. The ultraviolet continuous and emission-line spectra of the Herbig-Haro objects HH 2 and HH 1

    Science.gov (United States)

    Boehm-Vitense, E.; Cardelli, J. A.; Nemec, J. M.; Boehm, K. H.

    1982-01-01

    Recent studies of the continuous spectrum of Herbig-Haro (HH) objects at optical and near-infrared wavelengths and the observation of continuous radiation in the ultraviolet have shown an unexpectedly steep increase of the flux toward shorter wavelengths. The present investigation provides the results of ultraviolet observations of HH 2. The obtained data are compared with the HH 1 data. It is found that HH 2 has an ultraviolet continuous and emission-line spectrum which is similar to that of HH 1. The UV line spectrum of HH 2H indicates an even somewhat larger ionization than does the HH 1 spectrum. As in HH1, the UV emission-line spectrum shows a much higher degree of ionization than that derived from the optical spectrum. Consequently, the same difficulty arises as in the case of HH 1. The complete UV plus optical spectrum cannot be explained by a single plane-parallel shock-wave model.

  2. Gemini-IFU Spectroscopy of HH 111

    Science.gov (United States)

    Cerqueira, A. H.; Vasconcelos, M. J.; Raga, A. C.; Feitosa, J.; Plana, H.

    2015-03-01

    We present new optical observations of the Herbig-Haro (HH) 111 jet using the Gemini Multi Object Spectrograph in its Integral Field Unit mode. Eight fields of 5\\prime\\prime × 3\\buildrel{\\prime\\prime}\\over{.} 5 have been positioned along and across the HH 111 jet, covering the spatial region from knot E to L in HH 111 (namely, knots E, F, G, H, J, K, and L). We present images and velocity channel maps for the [O i] 6300+6360, Hα, [N ii] 6548+6583, and [S ii] 6716+6730 lines, as well as for the [S ii] 6716/6730 line ratio. We find that the HH 111 jet has an inner region with lower excitation and higher radial velocity, surrounded by a broader region of higher excitation and lower radial velocity. Also, we find higher electron densities at lower radial velocities. These results imply that the HH 111 jet has a fast, axial region with lower velocity shocks surrounded by a lower velocity sheath with higher velocity shocks. Based on observations obtained at the Gemini Observatory, which is operated by the Association of Universities for Research in Astronomy, Inc., under a cooperative agreement with the NSF on behalf of the Gemini partnership: the National Science Foundation (United States), the Science and Technology Facilities Council (United Kingdom), the National Research Council (Canada), CONICYT (Chile), the Australian Research Council (Australia), Ministério da Ciência, Tecnologia e Inovação (Brazil), and Ministerio de Ciencia, Tecnología e Innovación Productiva (Argentina).

  3. Sporadic premature aging in a Japanese monkey: a primate model for progeria.

    Directory of Open Access Journals (Sweden)

    Takao Oishi

    Full Text Available In our institute, we have recently found a child Japanese monkey who is characterized by deep wrinkles of the skin and cataract of bilateral eyes. Numbers of analyses were performed to identify symptoms representing different aspects of aging. In this monkey, the cell cycle of fibroblasts at early passage was significantly extended as compared to a normal control. Moreover, both the appearance of senescent cells and the deficiency in DNA repair were observed. Also, pathological examination showed that this monkey has poikiloderma with superficial telangiectasia, and biochemical assay confirmed that levels of HbA1c and urinary hyaluronan were higher than those of other (child, adult, and aged monkey groups. Of particular interest was that our MRI analysis revealed expansion of the cerebral sulci and lateral ventricles probably due to shrinkage of the cerebral cortex and the hippocampus. In addition, the conduction velocity of a peripheral sensory but not motor nerve was lower than in adult and child monkeys, and as low as in aged monkeys. However, we could not detect any individual-unique mutations of known genes responsible for major progeroid syndromes. The present results indicate that the monkey suffers from a kind of progeria that is not necessarily typical to human progeroid syndromes.

  4. Proper motions of the HH 1 jet

    Science.gov (United States)

    Raga, A. C.; Reipurth, B.; Esquivel, A.; Castellanos-Ramírez, A.; Velázquez, P. F.; Hernández-Martínez, L.; Rodríguez-González, A.; Rechy-García, J. S.; Estrella-Trujillo, D.; Bally, J.; González-Gómez, D.; Riera, A.

    2017-10-01

    We describe a new method for determining proper motions of extended objects, and a pipeline developed for the application of this method. We then apply this method to an analysis of four epochs of [S II] HST images of the HH 1 jet (covering a period of ≈20 yr). We determine the proper motions of the knots along the jet, and make a reconstruction of the past ejection velocity time-variability (assuming ballistic knot motions). This reconstruction shows an "acceleration" of the ejection velocities of the jet knots, with higher velocities at more recent times. This acceleration will result in an eventual merging of the knots in ≈450 yr and at a distance of ≈80'' from the outflow source, close to the present-day position of HH 1.

  5. Study of HH production at CMS

    CERN Document Server

    Francois, Brieuc Arnaud L

    2016-01-01

    The production of a pair of Higgs bosons provides a direct handle on the structure of the Higgs field potential. While the HH production within the SM is very small and essentially out of the experimental reach within the LHC Run I or II, several beyond SM theories foresee an enhancement that can be already probed with the available data. First searches for resonant and non-resonant Higgs pair production made using CMS Run II data will be presented.

  6. Farby-Perot observations and new models of the HH 47A and HH 47D bow shocks

    Science.gov (United States)

    Morse, Jon A.; Hartigan, Patrick; Heathcote, Steve; Raymond, John C.; Cecil, Gerald

    1994-01-01

    We present new models for the HH 47A and HH 47D bow shocks based on line flux and velocity maps obtained with an imaging Fabry-Perot spectrometer. We confirm that HH 47A and HH 47D each show a bow shock/Mach disk morphology, and that velocity variability in the outflow can account for the observed structures. While it was suggested a decade ago that the inner working surface HH 47A appears to be traveling into the wake of HH 47D, we find kinematic evidence that the outer bow shock HH 47D is also not the primary ejection event in the outflow but follows in the wake of previously ejected material. By comparing the observed line ratios and line profiles to those predicted by our bow shock models, we find that both bow shocks have substantially lower shock velocities than their space motions would imply, and that the emission from each bow shock is systematically blueshifted from the rest-frame velocity of the ambient emission, indicating a comoving preshock medium. We derive kinematic ages of approximately 1150 yr for HH 47D and approximately 550 yr for HH 47A, which implies that the stellar driving source may undergo repetitive eruptions similar to FU Orionis-type outbursts every several hundred years. This timescale is similar to estimates made by Reipurth and collaborators for the separation between major outbursts in the HH 34 and HH 111 stellar jets.

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

    NARCIS (Netherlands)

    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.

    2006-01-01

    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

  8. Infrasound Generation from the HH Seismic Hammer.

    Energy Technology Data Exchange (ETDEWEB)

    Jones, Kyle Richard

    2014-10-01

    The HH Seismic hammer is a large, "weight-drop" source for active source seismic experiments. This system provides a repetitive source that can be stacked for subsurface imaging and exploration studies. Although the seismic hammer was designed for seismological studies it was surmised that it might produce energy in the infrasonic frequency range due to the ground motion generated by the 13 metric ton drop mass. This study demonstrates that the seismic hammer generates a consistent acoustic source that could be used for in-situ sensor characterization, array evaluation and surface-air coupling studies for source characterization.

  9. Entrainment by the jet in HH 47

    Science.gov (United States)

    Raymond, John C.; Morse, Jon A.; Hartigan, P.; Curiel, S.; Heathcote, Steve

    1994-01-01

    Fabry-Perot images of the HH 47 optical jet show that the velocity decreases from the center toward the edges which is interpreted as evidence for entrainment. Those images can be used to investigate the rate of entrainment required to account for the observed luminosity. Entrainment along the jet can account for only small fractions of the jet mass and the molecular outflow seen in CO. We compare the density, excitation, and velocity structure of the jet with the predictions of viscous entrainment models and models of entrainment by expulsion of jet material by internal shocks, and find that either type of model can explain the general features.

  10. Different prelamin A forms accumulate in human fibroblasts: a study in experimental models and progeria

    Directory of Open Access Journals (Sweden)

    S Dominici

    2009-08-01

    Full Text Available Lamin A is a component of the nuclear lamina mutated in a group of human inherited disorders known as laminopathies. Among laminopathies, progeroid syndromes and lipodystrophies feature accumulation of prelamin A, the precursor protein which, in normal cells, undergoes a multi-step processing to yield mature lamin A. It is of utmost importance to characterize the prelamin A form accumulated in each laminopathy, since existing evidence shows that drugs acting on protein processing can improve some pathological aspects.We report that two antibodies raised against differently modified prelamin A peptides show a clear specificity to full-length prelamin A or carboxymethylated farnesylated prelamin A, respectively. Using these antibodies, we demonstrated that inhibition of the prelamin A endoprotease ZMPSTE24 mostly elicits accumulation of full-length prelamin A in its farnesylated form, while loss of the prelamin A cleavage site causes accumulation of carboxymethylated prelamin A in progeria cells. These results suggest a major role of ZMPSTE24 in the first prelamin A cleavage step.

  11. Different prelamin A forms accumulate in human fibroblasts: a study in experimental models and progeria

    Directory of Open Access Journals (Sweden)

    G Lattanzi

    2009-03-01

    Full Text Available Lamin A is a component of the nuclear lamina mutated in a group of human inherited disorders known as laminopathies. Among laminopathies, progeroid syndromes and lipodystrophies feature accumulation of prelamin A, the precursor protein which, in normal cells, undergoes a multi-step processing to yield mature lamin A. It is of utmost importance to characterize the prelamin A form accumulated in each laminopathy, since existing evidence shows that drugs acting on protein processing can improve some pathological aspects.We report that two antibodies raised against differently modified prelamin A peptides show a clear specificity to full-length prelamin A or carboxymethylated farnesylated prelamin A, respectively. Using these antibodies, we demonstrated that inhibition of the prelamin A endoprotease ZMPSTE24 mostly elicits accumulation of full-length prelamin A in its farnesylated form, while loss of the prelamin A cleavage site causes accumulation of carboxymethylated prelamin A in progeria cells. These results suggest a major role of ZMPSTE24 in the first prelamin A cleavage step.

  12. Ihog and Boi elicit Hh signaling via Ptc but do not aid Ptc in sequestering the Hh ligand.

    Science.gov (United States)

    Camp, Darius; Haitian He, Billy; Li, Sally; Althaus, Irene W; Holtz, Alexander M; Allen, Benjamin L; Charron, Frédéric; van Meyel, Donald J

    2014-10-01

    Hedgehog (Hh) proteins are secreted molecules essential for tissue development in vertebrates and invertebrates. Hh reception via the 12-pass transmembrane protein Patched (Ptc) elicits intracellular signaling through Smoothened (Smo). Hh binding to Ptc is also proposed to sequester the ligand, limiting its spatial range of activity. In Drosophila, Interference hedgehog (Ihog) and Brother of ihog (Boi) are two conserved and redundant transmembrane proteins that are essential for Hh pathway activation. How Ihog and Boi activate signaling in response to Hh remains unknown; each can bind both Hh and Ptc and so it has been proposed that they are essential for both Hh reception and sequestration. Using genetic epistasis we established here that Ihog and Boi, and their orthologs in mice, act upstream or at the level of Ptc to allow Hh signal transduction. In the Drosophila developing wing model we found that it is through Hh pathway activation that Ihog and Boi maintain the boundary between the anterior and posterior compartments. We dissociated the contributions of Ptc from those of Ihog/Boi and, surprisingly, found that cells expressing Ptc can retain and sequester the Hh ligand without Ihog and Boi, but that Ihog and Boi cannot do so without Ptc. Together, these results reinforce the central role for Ptc in Hh binding in vivo and demonstrate that, although Ihog and Boi are dispensable for Hh sequestration, they are essential for pathway activation because they allow Hh to inhibit Ptc and thereby relieve its repression of Smo. © 2014. Published by The Company of Biologists Ltd.

  13. Mechanisms of cardiovascular disease in accelerated aging syndromes.

    Science.gov (United States)

    Capell, Brian C; Collins, Francis S; Nabel, Elizabeth G

    2007-07-06

    In the past several years, remarkable progress has been made in the understanding of the mechanisms of premature aging. These rare, genetic conditions offer valuable insights into the normal aging process and the complex biology of cardiovascular disease. Many of these advances have been made in the most dramatic of these disorders, Hutchinson-Gilford progeria syndrome. Although characterized by features of normal aging such as alopecia, skin wrinkling, and osteoporosis, patients with Hutchinson-Gilford progeria syndrome are affected by accelerated, premature arteriosclerotic disease that leads to heart attacks and strokes at a mean age of 13 years. In this review, we highlight recent advances in the biology of premature aging uncovered in Hutchinson-Gilford progeria syndrome and other accelerated aging syndromes, advances that provide insight into the mechanisms of cardiovascular diseases ranging from atherosclerosis to arrhythmias.

  14. CRISPR/Cas9-mediated Dax1 knockout in the monkey recapitulates human AHC-HH.

    Science.gov (United States)

    Kang, Yu; Zheng, Bo; Shen, Bin; Chen, Yongchang; Wang, Lei; Wang, Jianying; Niu, Yuyu; Cui, Yiqiang; Zhou, Jiankui; Wang, Hong; Guo, Xuejiang; Hu, Bian; Zhou, Qi; Sha, Jiahao; Ji, Weizhi; Huang, Xingxu

    2015-12-20

    Mutations in the DAX1 locus cause X-linked adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HH), which manifest with primary adrenal insufficiency and incomplete or absent sexual maturation, respectively. The associated defects in spermatogenesis can range from spermatogenic arrest to Sertoli cell only syndrome. Conclusions from Dax1 knockout mouse models provide only limited insight into AHC/HH disease mechanisms, because mouse models exhibit more extensive abnormalities in testicular development, including disorganized and incompletely formed testis cords with decreased number of peritubular myoid cells and male-to-female sex reversal. We previously reported successful clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein 9 (Cas9)-mediated genome targeting in cynomolgus monkeys. Here, we describe a male fetal monkey in which targeted genome editing using CRISPR/Cas9 produced Dax1-null mutations in most somatic tissues and in the gonads. This DAX1-deficient monkey displayed defects in adrenal gland development and abnormal testis architecture with small cords, expanded blood vessels and extensive fibrosis. Sertoli cell formation was not affected. This phenotype strongly resembles findings in human patients with AHC-HH caused by mutations in DAX1. We further detected upregulation of Wnt/β-catenin-VEGF signaling in the fetal Dax1-deficient testis, suggesting abnormal activation of signaling pathways in the absence of DAX1 as one mechanism of AHC-HH. Our study reveals novel insight into the role of DAX1 in HH and provides proof-of-principle for the generation of monkey models of human disease via CRISPR/Cas9-mediated gene targeting. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  15. HH-65A Dolphin digital integrated avionics

    Science.gov (United States)

    Huntoon, R. B.

    1984-01-01

    Communication, navigation, flight control, and search sensor management are avionics functions which constitute every Search and Rescue (SAR) operation. Routine cockpit duties monopolize crew attention during SAR operations and thus impair crew effectiveness. The United States Coast Guard challenged industry to build an avionics system that automates routine tasks and frees the crew to focus on the mission tasks. The HH-64A SAR avionics systems of communication, navigation, search sensors, and flight control have existed independently. On the SRR helicopter, the flight management system (FMS) was introduced. H coordinates or integrates these functions. The pilot interacts with the FMS rather than the individual subsystems, using simple, straightforward procedures to address distinct mission tasks and the flight management system, in turn, orchestrates integrated system response.

  16. A 3-mode, Variable Velocity Jet Model for HH 34

    Science.gov (United States)

    Raga, A.; Noriega-Crespo, A.

    1998-01-01

    Variable ejection velocity jet models can qualitatively explain the appearance of successive working surfaces in Herbig-Haro (HH) jets. This paper presents an attempt to explore which features of the HH 34 jet can indeed be reproduced by such a model.

  17. Evidence for a wind-swept cavity in HH 34?

    Science.gov (United States)

    Rudolph, Alexander; Welch, William J.

    1992-01-01

    High-resolution HCO(+) observations of two sections of the HH 34 system are presented. The emission is seen in association with, and to the north of, the exciting star of the HH 34 jet as well as to the south of the HH object HH 34. The emission to the north and northwest of HH 34 IR is in two ridge formed in the shape of a U. These two ridges are probably the limb-brightened walls of a cavity. The data suggest that the cavity was cleared by a protostellar wind with mass loss and momentum flux similar to the neutral wind in HH 7-11. HCO(+) emission is detected in association with the source IRS 5 and to the south of HH 34, with a gap between the HH object and the emission of 15-40 arcsec. These results confirm that the emission traces dense circumstellar gas an both low and high velocity gas involved in the interaction between fast protostellar winds and their surroundings.

  18. The outflow history of two Herbig-Haro jets in RCW 36: HH 1042 and HH 1043

    National Research Council Canada - National Science Library

    Ellerbroek, L. E; Podio, L; Kaper, L; Sana, H; Huppenkothen, D; de Koter, A; Monaco, L

    2013-01-01

    .... To this end we have obtained optical to near-infrared spectra of HH 1042 and HH 1043, two newly discovered jets in the massive star-forming region RCW 36, using X-shooter on the ESO Very Large Telescope...

  19. An unidentified neonatal progeroid syndrome: follow-up report.

    Science.gov (United States)

    Wiedemann, H R

    1979-01-18

    Two male infants with a pseudo-hydrocephalic progeroid syndrome with natal teeth are compared with two very similar female cases reported in the literature and interpreted as congenital progeria. All these cases may represent a separate entity, a previously unrecognized genetic progeroid syndrome.

  20. The dusty silhouette jet HH 1019 in the Carina Nebula

    Science.gov (United States)

    Reiter, Megan; Kiminki, Megan M.; Smith, Nathan; Bally, John

    2017-06-01

    We report the discovery in Hubble Space Telescope (HST) images of the new Herbig-Haro jet, HH 1019, located near the Tr 14 cluster in the Carina Nebula. Like other HH jets in the region, this bipolar collimated flow emerges from the head of a dark dust pillar. However, HH 1019 is unique because - unlike all other HH jets known to date - it is identified by a linear chain of dark, dusty knots that are seen primarily in silhouette against the background screen of the H II region. Proper motions confirm that these dark condensations move along the jet axis at high speed. [S ii] emission traces a highly collimated jet that is spatially coincident with these dust knots. The high extinction in the body of the jet suggests that this outflow has lifted a large amount of dust directly from the disc, although it is possible that it has entrained dust from its surrounding protostellar envelope before exiting the dust pillar. If dust in HH 1019 originates from the circumstellar disc, this provides further evidence for a jet launched from a range of radii in the disc, including those outside the dust sublimation radius. HH 1019 may be the prototype for a new subclass of dusty HH objects seen primarily in extinction against the background screen of a bright H II region. Such jets may be common, but difficult to observe because they require the special condition of a very bright background in order to be seen in silhouette.

  1. Could Metabolic Syndrome, Lipodystrophy, and Aging Be Mesenchymal Stem Cell Exhaustion Syndromes?

    Directory of Open Access Journals (Sweden)

    Eduardo Mansilla

    2011-01-01

    Full Text Available One of the most important and complex diseases of modern society is metabolic syndrome. This syndrome has not been completely understood, and therefore an effective treatment is not available yet. We propose a possible stem cell mechanism involved in the development of metabolic syndrome. This way of thinking lets us consider also other significant pathologies that could have similar etiopathogenic pathways, like lipodystrophic syndromes, progeria, and aging. All these clinical situations could be the consequence of a progressive and persistent stem cell exhaustion syndrome (SCES. The main outcome of this SCES would be an irreversible loss of the effective regenerative mesenchymal stem cells (MSCs pools. In this way, the normal repairing capacities of the organism could become inefficient. Our point of view could open the possibility for a new strategy of treatment in metabolic syndrome, lipodystrophic syndromes, progeria, and even aging: stem cell therapies.

  2. IFIN - HH contribution at the Pierre Auger observatory

    Science.gov (United States)

    Brancus, I. M.; Saftoiu, A.

    2017-06-01

    Since 2000, in collaboration with KIT, Germany, the research of Astroparticle Physics has developed in IFIN-HH Bucharest. Romanian researchers participated in large international experiments, KASCADE Grande and LOPES, for investigating cosmic rays. New experimental devices have been built in IFIN-HH Bucharest for measuring the cosmic ray muons. Based on the experience and results gained over that time, Romanian researchers became part of the Pierre Auger Collaboration, the largest complex experiment for the investigation of Extensive Air Showers. The contribution of IFIN-HH is focused on the studies of cosmic rays using radio antennae and the measuring of cosmic muons using detectors based on new technology.

  3. Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles.

    Directory of Open Access Journals (Sweden)

    Jaan-Olle Andressoo

    2006-10-01

    Full Text Available Although compound heterozygosity, or the presence of two different mutant alleles of the same gene, is common in human recessive disease, its potential to impact disease outcome has not been well documented. This is most likely because of the inherent difficulty in distinguishing specific biallelic effects from differences in environment or genetic background. We addressed the potential of different recessive alleles to contribute to the enigmatic pleiotropy associated with XPD recessive disorders in compound heterozygous mouse models. Alterations in this essential helicase, with functions in both DNA repair and basal transcription, result in diverse pathologies ranging from elevated UV sensitivity and cancer predisposition to accelerated segmental progeria. We report a variety of biallelic effects on organismal phenotype attributable to combinations of recessive Xpd alleles, including the following: (i the ability of homozygous lethal Xpd alleles to ameliorate a variety of disease symptoms when their essential basal transcription function is supplied by a different disease-causing allele, (ii differential developmental and tissue-specific functions of distinct Xpd allele products, and (iii interallelic complementation, a phenomenon rarely reported at clinically relevant loci in mammals. Our data suggest a re-evaluation of the contribution of "null" alleles to XPD disorders and highlight the potential of combinations of recessive alleles to affect both normal and pathological phenotypic plasticity in mammals.

  4. Observations of jets from low-luminosity stars. II - SVS 12, HH 30, near HL Tauri, and HH 34

    Science.gov (United States)

    Cohen, Martin; Jones, B. F.

    1987-01-01

    Spatially resolved spectral scans were obtained for four Herbig-Haro jets emanating from low-luminosity premain-sequence stars. There appears to be a general tendency for the excitation and electron density to diminish along these jets. For three jets, the electron density dependence is close to 1/r. HH 30's scattered stellar continuum showed much weaker Fe II lines in 1985 than in 1979, indicative of variable stellar activity. The most distant knot in HH 34's jet has the lowest excitation of any known HH object, with S II-line/H-alpha = 12.

  5. Hh signaling in regeneration of the ischemic heart.

    Science.gov (United States)

    Dunaeva, Marina; Waltenberger, Johannes

    2017-05-18

    Myocardial infarction (MI) is caused by the occlusion of a coronary artery due to underlying atherosclerosis complicated by localized thrombosis. The blockage of blood flow leads to cardiomyocyte (CM) death in the infarcted area. Adult mammalian cardiomyocytes have little capacity to proliferate in response to injury; however, some pathways active during embryogenesis and silent during adult life are recruited in response to tissue injury. One such example is hedgehog (Hh) signaling. Hh is involved in the embryonic development of the heart and coronary vascular system. Pathological conditions including ischemia activate Hh signaling in adult tissues. This review highlights the involvement of Hh signaling in ischemic tissue regeneration with a particular emphasis on heart regeneration and discusses its potential role as a therapeutic agent.

  6. Regulation of Hh/Gli signaling by dual ubiquitin pathways.

    Science.gov (United States)

    Jiang, Jin

    2006-11-01

    The Hedgehog (Hh) signaling pathway governs cell growth and patterning in animal development. Malfunction of several pathway components, including the key transcriptional effector Ci/Gli proteins, leads to a variety of human disorders including several malignancies. Ci/Gli activity is controlled by multi-layered regulatory mechanisms, the most prominent of which is the ubiquitin-mediated proteolysis. In the absence of Hh, Ci/Gli is proteolytically processed into a truncated form that functions as a transcriptional repressor of the Hh pathway. Ci processing is mediated by an SCF (Skip1/Cul1/F-box protein) ubiquitin ligase in which the F-box protein Slimb/beta-TRCP bridges Ci to the ubiquitin ligase. Recent studies in Drosophila and mammalian cultured cells have demonstrated that sequential phosphorylation of Ci/Gli by PKA, GSK3, and CKI creates multiple docking sites that can recruit SCF(Slimb/beta-TRCP), which then promotes Ci/Gli ubiquitination followed by proteasome-mediated processing. Recently, an E3 ubiquitin ligase consisting of the BTB (Broad Complex, Tramtrack, and Bric a Brac) protein HIB (Hh induced MATH and BTB protein) and Cullin 3 (Cul3) has been identified that acts in a negative feedback loop to fine-tune Hh signaling responses by degrading full length Ci. In eye imaginal discs where Hh signals coordinate cell proliferation and differentiation, HIB is highly expressed in the differentiating cells to prevent aberrant Hh signaling activity and ensure normal eye development. Tissue- and developmental stage-specific expression of HIB and its homologs in vertebrates may provide a conserved mechanism for ensuring precision in spatial and temporal control of Hh signaling.

  7. A farnesyltransferase inhibitor prevents both the onset and late progression of cardiovascular disease in a progeria mouse model.

    Science.gov (United States)

    Capell, Brian C; Olive, Michelle; Erdos, Michael R; Cao, Kan; Faddah, Dina A; Tavarez, Urraca L; Conneely, Karen N; Qu, Xuan; San, Hong; Ganesh, Santhi K; Chen, Xiaoyan; Avallone, Hedwig; Kolodgie, Frank D; Virmani, Renu; Nabel, Elizabeth G; Collins, Francis S

    2008-10-14

    Hutchinson-Gilford progeria syndrome (HGPS) is the most dramatic form of human premature aging. Death occurs at a mean age of 13 years, usually from heart attack or stroke. Almost all cases of HGPS are caused by a de novo point mutation in the lamin A (LMNA) gene that results in production of a mutant lamin A protein termed progerin. This protein is permanently modified by a lipid farnesyl group, and acts as a dominant negative, disrupting nuclear structure. Treatment with farnesyltransferase inhibitors (FTIs) has been shown to prevent and even reverse this nuclear abnormality in cultured HGPS fibroblasts. We have previously created a mouse model of HGPS that shows progressive loss of vascular smooth muscle cells in the media of the large arteries, in a pattern that is strikingly similar to the cardiovascular disease seen in patients with HGPS. Here we show that the dose-dependent administration of the FTI tipifarnib (R115777, Zarnestra) to this HGPS mouse model can significantly prevent both the onset of the cardiovascular phenotype as well as the late progression of existing cardiovascular disease. These observations provide encouraging evidence for the current clinical trial of FTIs for this rare and devastating disease.

  8. HH 114 MMS: a new chemically active outflow

    Science.gov (United States)

    Tafalla, M.; Hacar, A.

    2013-04-01

    Context. A small group of bipolar protostellar outflows display strong emission from shock-tracer molecules such as SiO and CH3OH, and are generally referred to as "chemically active". The best-studied outflow from this group is the one in L 1157. Aims: We study the molecular emission from the bipolar outflow powered by the very young stellar object HH 114 MMS and compare its chemical composition with that of the L 1157 outflow. Methods: We have used the IRAM 30 m radio telescope to observe a number of transitions from CO, SiO, CH3OH, SO, CS, HCN, and HCO+ toward the HH 114 MMS outflow. The observations consist of maps and a two-position molecular survey. Results: The HH 114 MMS outflow presents strong emission from a number of shock-tracer molecules that dominate the appearance of the maps around the central source. The abundance of these molecules is comparable to the abundance in L 1157. Conclusions: The outflow from HH 114 MMS is a spectacular new case of a chemically active outflow. Based on observations carried out with the IRAM 30 m Telescope. IRAM is supported by INSU/CNRS (France), MPG (Germany) and IGN (Spain).

  9. Structure and Biological Roles of Sinorhizobium fredii HH103 Exopolysaccharide

    Science.gov (United States)

    Acosta-Jurado, Sebastián; Soto, María J.; Margaret, Isabel; Crespo-Rivas, Juan C.; Sanjuan, Juan; Temprano, Francisco; Gil-Serrano, Antonio; Ruiz-Sainz, José E.; Vinardell, José M.

    2014-01-01

    Here we report that the structure of the Sinorhizobium fredii HH103 exopolysaccharide (EPS) is composed of glucose, galactose, glucuronic acid, pyruvic acid, in the ratios 5∶2∶2∶1 and is partially acetylated. A S. fredii HH103 exoA mutant (SVQ530), unable to produce EPS, not only forms nitrogen fixing nodules with soybean but also shows increased competitive capacity for nodule occupancy. Mutant SVQ530 is, however, less competitive to nodulate Vigna unguiculata. Biofilm formation was reduced in mutant SVQ530 but increased in an EPS overproducing mutant. Mutant SVQ530 was impaired in surface motility and showed higher osmosensitivity compared to its wild type strain in media containing 50 mM NaCl or 5% (w/v) sucrose. Neither S. fredii HH103 nor 41 other S. fredii strains were recognized by soybean lectin (SBL). S. fredii HH103 mutants affected in exopolysaccharides (EPS), lipopolysaccharides (LPS), cyclic glucans (CG) or capsular polysaccharides (KPS) were not significantly impaired in their soybean-root attachment capacity, suggesting that these surface polysaccharides might not be relevant in early attachment to soybean roots. These results also indicate that the molecular mechanisms involved in S. fredii attachment to soybean roots might be different to those operating in Bradyrhizobium japonicum. PMID:25521500

  10. FCC-hh Hadron Collider - Parameter Scenarios and Staging Options

    CERN Document Server

    Benedikt, Michael; Schulte, Daniel; Zimmermann, F; Syphers, M J

    2015-01-01

    FCC-hh is a proposed future energy-frontier hadron collider, based on dipole magnets with a field around 16 T installed in a new tunnel with a circumference of about 100 km, which would provide proton collisions at a centre-of-mass energy of 100 TeV, as well as heavy-ion collisions at the equivalent energy. The FCC-hh should deliver a high integrated proton-proton luminosity at the level of several 100 fb−1 per year, or more. The challenges for operating FCC-hh with high beam current and at high luminosity include the heat load from synchrotron radiation in a cold environment, the radiation from collision debris around the interaction region, and machine protection. In this paper, starting from the FCC-hh design baseline parameters we explore different approaches for increasing the integrated luminosity, and discuss the impact of key individual pa- rameters, such as the turnaround time. We also present some injector considerations and options for early hadron-collider operation.

  11. Structure and biological roles of Sinorhizobium fredii HH103 exopolysaccharide.

    Directory of Open Access Journals (Sweden)

    Dulce N Rodríguez-Navarro

    Full Text Available Here we report that the structure of the Sinorhizobium fredii HH103 exopolysaccharide (EPS is composed of glucose, galactose, glucuronic acid, pyruvic acid, in the ratios 5∶2∶2∶1 and is partially acetylated. A S. fredii HH103 exoA mutant (SVQ530, unable to produce EPS, not only forms nitrogen fixing nodules with soybean but also shows increased competitive capacity for nodule occupancy. Mutant SVQ530 is, however, less competitive to nodulate Vigna unguiculata. Biofilm formation was reduced in mutant SVQ530 but increased in an EPS overproducing mutant. Mutant SVQ530 was impaired in surface motility and showed higher osmosensitivity compared to its wild type strain in media containing 50 mM NaCl or 5% (w/v sucrose. Neither S. fredii HH103 nor 41 other S. fredii strains were recognized by soybean lectin (SBL. S. fredii HH103 mutants affected in exopolysaccharides (EPS, lipopolysaccharides (LPS, cyclic glucans (CG or capsular polysaccharides (KPS were not significantly impaired in their soybean-root attachment capacity, suggesting that these surface polysaccharides might not be relevant in early attachment to soybean roots. These results also indicate that the molecular mechanisms involved in S. fredii attachment to soybean roots might be different to those operating in Bradyrhizobium japonicum.

  12. Ab initio Potential Energy Surface for H-H2

    Science.gov (United States)

    Partridge, Harry; Bauschlicher, Charles W., Jr.; Stallcop, James R.; Levin, Eugene

    1993-01-01

    Ab initio calculations employing large basis sets are performed to determine an accurate potential energy surface for H-H2 interactions for a broad range of separation distances. At large distances, the spherically averaged potential determined from the calculated energies agrees well with the corresponding results determined from dispersion coefficients; the van der Waals well depth is predicted to be 75 +/- (mu)E(sub h). Large basis sets have also been applied to reexamine the accuracy of theoretical repulsive potential energy surfaces. Multipolar expansions of the computed H-H2 potential energy surface are reported for four internuclear separation distances (1.2, 1.401, 1.449, and 1.7a(sub 0) of the hydrogen molecule. The differential elastic scattering cross section calculated from the present results is compared with the measurements from a crossed beam experiment.

  13. The outflow history of two Herbig-Haro jets in RCW 36: HH 1042 and HH 1043

    Science.gov (United States)

    Ellerbroek, L. E.; Podio, L.; Kaper, L.; Sana, H.; Huppenkothen, D.; de Koter, A.; Monaco, L.

    2013-03-01

    Jets around low- and intermediate-mass young stellar objects (YSOs) contain a fossil record of the recent accretion and outflow activity of their parent star-forming systems. We aim to understand whether the accretion/ejection process is similar across the entire stellar mass range of the parent YSOs. To this end we have obtained optical to near-infrared spectra of HH 1042 and HH 1043, two newly discovered jets in the massive star-forming region RCW 36, using X-shooter on the ESO Very Large Telescope. HH 1042 is associated with the intermediate-mass YSO 08576nr292. Over 90 emission lines are detected in the spectra of both targets. High-velocity (up to 220 km s-1) blue- and redshifted emission from a bipolar flow is observed in typical shock tracers. Low-velocity emission from the background cloud is detected in nebular tracers, including lines from high ionization species. We applied combined optical and infrared spectral diagnostic tools in order to derive the physical conditions (density, temperature, and ionization) in the jets. The measured mass outflow rates are Ṁjet ~ 10-7M⊙ yr-1. It is not possible to determine a reliable estimate for the accretion rate of the driving source of HH 1043 using optical tracers. We measure a high accretion rate for the driving source of HH 1042 (Ṁacc ~ 10-6M⊙ yr-1). For this system the ratio Ṁjet/Ṁacc ~ 0.1, which is comparable to low-mass sources and consistent with models for magneto-centrifugal jet launching. The knotted structure and velocity spread in both jets are interpreted as fossil signatures of a variable outflow rate. While the mean velocities in both lobes of the jets are comparable, the variations in mass outflow rate and velocity in the two lobes are not symmetric. This asymmetry suggests that the launching mechanism on either side of the accretion disk is not synchronized. For the HH 1042 jet, we have constructed an interpretative physical model with a stochastic or periodic outflow rate and a

  14. First results for a FCC-hh ring optics design

    CERN Document Server

    Chance, Antoine; Payet, Jacques; Alemany Fernandez, Reyes; Holzer, Bernhard; Schulte, Daniel

    2015-01-01

    The first order considerations of the optics for the FCC-hh ring are presented. The arc cell is generated taking into account some general considerations like the whole circumference, maximum gradients and lengths of the elements in the cell. The integration of the insertion regions started. Three types of Dispersion Suppressors (DIS) are studied. The sensitivity of the arc parameters to these layout considerations is studied in more detail. An alternative layout is shown as well.

  15. Spectropolarimetry of Herbig-Haro objects and the exciting star of HH 30

    Science.gov (United States)

    Cohen, M.; Schmidt, G. D.

    1981-01-01

    Spectrophotometric and spectropolarimetric observations are presented of three HH objects: HH 11, 30, and 43. Although null polarization results are obtained for HH 11 and 43, the unusually strong continuum of HH 30 is linearly polarized by 3%. The emission lines in this nebula are unpolarized. The electric vector position angle appropriate to the continuum polarization, and the presence of Fe II emission lines apparently from the photosphere of a T Tauri-like star, indicate HL Tau as the exciting/illuminating star for HH 30. Evidence is adduced for a highly anisotropic distribution of circumstellar obscuration around this star.

  16. Deuterated Formaldehyde in the low mass protostar HH212

    Science.gov (United States)

    Sahu, Dipen; Minh, YC; Lee, Chin-Fei; Liu, Sheng-Yuan; Das, Ankan; Chakrabarti, SK; Sivaraman, Bhala

    2018-01-01

    HH212, a nearby (400 pc) object in Orion, is a Class 0 protostellar system with a Keplerian disk and collimated bipolar SiO jets. Deuterated water, HDO and a deuterated complex molecule, methanol (CH2DOH) have been reported in the source. Here, we report the HDCO (deuterated formaldehyde) line observation from ALMA data to probe the inner region of HH212. We compare HDCO line with other molecular lines to understand the possible chemistry and physics of the source. The distribution of HDCO emission suggests it may be associated with the base of the outflow. The emission also shows a rotation but it is not associated with the Keplerian rotation of disk or the rotating infalling envelope, rather it is associated with the outflow as previously seen in C34S. From the possible deuterium fractionation, we speculate that the gas phase formation of deuterated formaldehyde is active in the central hot region of the low-mass protostar system, HH212.

  17. Progeria caused by a rare LMNA mutation p.S143F associated with mild myopathy and atrial fibrillation.

    Science.gov (United States)

    Madej-Pilarczyk, Agnieszka; Kmieć, Tomasz; Fidziańska, Anna; Rekawek, Joanna; Niebrój-Dobosz, Irena; Turska-Kmieć, Anna; Nestorowicz, Klaudia; Jóźwiak, Sergiusz; Hausmanowa-Petrusewicz, Irena

    2008-09-01

    We present a 6-year-old girl with premature aging associated with mild myopathy, displaying muscle weakness, joint contractures and hyporeflexia. Genetic analysis revealed rare heterozygous point mutation in lamin A/C gene, g.428C>T. Cardiological evaluation showed atrial fibrillation, but we did not find signs of coronary heart disease, which is life-threatening cardiovascular complication in progeria. Electron microscopy of the muscle revealed abnormalities in nuclear architecture, i.e. blebbing, thick lamina and peripheral distribution of heterochromatin. As some diagnostic criteria characteristic for classic progeria are not fulfilled, this case could be regarded as atypical progeria associated with myopathy and atrial fibrillation. To our knowledge, this is the second case of such association described in the literature.

  18. Gut–neuron interaction via Hh signaling regulates intestinal progenitor cell differentiation in Drosophila

    Science.gov (United States)

    Han, Hui; Pan, Chenyu; Liu, Chunying; Lv, Xiangdong; Yang, Xiaofeng; Xiong, Yue; Lu, Yi; Wu, Wenqing; Han, Junhai; Zhou, Zhaocai; Jiang, Hai; Zhang, Lei; Zhao, Yun

    2015-01-01

    Intestinal homeostasis is maintained by intestinal stem cells (ISCs) and their progenies. A complex autonomic nervous system spreads over posterior intestine. However, whether and how neurons regulate posterior intestinal homeostasis is largely unknown. Here we report that neurons regulate Drosophila posterior intestinal homeostasis. Specifically, downregulation of neuronal Hedgehog (Hh) signaling inhibits the differentiation of ISCs toward enterocytes (ECs), whereas upregulated neuronal Hh signaling promotes such process. We demonstrate that, among multiple sources of Hh ligand, those secreted by ECs induces similar phenotypes as does neuronal Hh. In addition, intestinal JAK/STAT signaling responds to activated neuronal Hh signaling, suggesting that JAK/STAT signaling acts downstream of neuronal Hh signaling in intestine. Collectively, our results indicate that neuronal Hh signaling is essential for the determination of ISC fate. PMID:27462407

  19. CDO, an Hh-coreceptor, mediates lung cancer cell proliferation and tumorigenicity through Hedgehog signaling.

    Science.gov (United States)

    Leem, Young-Eun; Ha, Hye-Lim; Bae, Ju-Hyeon; Baek, Kwan-Hyuck; Kang, Jong-Sun

    2014-01-01

    Hedgehog (Hh) signaling plays essential roles in various developmental processes, and its aberrant regulation results in genetic disorders or malignancies in various tissues. Hyperactivation of Hh signaling is associated with lung cancer development, and there have been extensive efforts to investigate how to control Hh signaling pathway and regulate cancer cell proliferation. In this study we investigated a role of CDO, an Hh co-receptor, in non-small cell lung cancer (NSCLC). Inhibition of Hh signaling by SANT-1 or siCDO in lung cancer cells reduced proliferation and tumorigenicity, along with the decrease in the expression of the Hh components. Histological analysis with NSCLC mouse tissue demonstrated that CDO was expressed in advanced grade of the cancer, and precisely co-localized with GLI1. These data suggest that CDO is required for proliferation and survival of lung cancer cells via Hh signaling.

  20. Gut-neuron interaction via Hh signaling regulates intestinal progenitor cell differentiation in Drosophila.

    Science.gov (United States)

    Han, Hui; Pan, Chenyu; Liu, Chunying; Lv, Xiangdong; Yang, Xiaofeng; Xiong, Yue; Lu, Yi; Wu, Wenqing; Han, Junhai; Zhou, Zhaocai; Jiang, Hai; Zhang, Lei; Zhao, Yun

    2015-01-01

    Intestinal homeostasis is maintained by intestinal stem cells (ISCs) and their progenies. A complex autonomic nervous system spreads over posterior intestine. However, whether and how neurons regulate posterior intestinal homeostasis is largely unknown. Here we report that neurons regulate Drosophila posterior intestinal homeostasis. Specifically, downregulation of neuronal Hedgehog (Hh) signaling inhibits the differentiation of ISCs toward enterocytes (ECs), whereas upregulated neuronal Hh signaling promotes such process. We demonstrate that, among multiple sources of Hh ligand, those secreted by ECs induces similar phenotypes as does neuronal Hh. In addition, intestinal JAK/STAT signaling responds to activated neuronal Hh signaling, suggesting that JAK/STAT signaling acts downstream of neuronal Hh signaling in intestine. Collectively, our results indicate that neuronal Hh signaling is essential for the determination of ISC fate.

  1. HH 1158: THE LOWEST LUMINOSITY EXTERNALLY IRRADIATED HERBIG–HARO JET

    Energy Technology Data Exchange (ETDEWEB)

    Riaz, B. [Max-Planck-Institut für Extraterrestrische Physik, Giessenbachstrasse 1, D-85748 Garching (Germany); Whelan, E. T. [Institute für Astronomie und Astrophysik, Eberhard Karls University Tuebingen, Sand 1, D-72076 Tübingen (Germany)

    2015-12-20

    We have identified a new externally irradiated Herbig–Haro (HH) jet, HH 1158, within ∼2 pc of the massive OB type stars in the σ Orionis cluster. At an L{sub bol} ∼ 0.1 L{sub ⊙}, HH 1158 is the lowest luminosity irradiated HH jet identified to date in any cluster. Results from the analysis of high-resolution optical spectra indicate asymmetries in the brightness, morphology, electron density, velocity, and the mass outflow rates for the blue and redshifted lobes. We constrain the position angle of the HH 1158 jet at 102° ± 5°. The mass outflow rate and the mean accretion rate for HH 1158 using multiple diagnostics are estimated to be (5.2 ± 2.6) × 10{sup −10} M{sub ⊙} yr{sup −1} and (3.0 ± 1.0) × 10{sup −10} M{sub ⊙} yr{sup −1}, respectively. The properties for HH 1158 are notably similar to the externally irradiated HH 444–HH 447 jets previously identified in σ Orionis. In particular, the morphology is such that the weaker jet beam is tilted toward the massive stars, indicating a higher extent of photo-evaporation. The high value for the Hα/[S ii] ratio is also consistent with the ratios measured in other irradiated jets, including HH 444–HH 447. The presence of an extended collimated jet that is bipolar and the evidence of shocked emission knots make HH 1158 the first unique case of irradiated HH jets at the very low-luminosity end, and provides an opportunity to learn the physical properties of very faint HH jet sources.

  2. Expression profiling identifies novel Hh/Gli-regulated genes in developing zebrafish embryos.

    Science.gov (United States)

    Bergeron, Sadie A; Milla, Luis A; Villegas, Rosario; Shen, Meng-Chieh; Burgess, Shawn M; Allende, Miguel L; Karlstrom, Rolf O; Palma, Verónica

    2008-02-01

    The Hedgehog (Hh) signaling pathway plays critical instructional roles during embryonic development. Misregulation of Hh/Gli signaling is a major causative factor in human congenital disorders and in a variety of cancers. The zebrafish is a powerful genetic model for the study of Hh signaling during embryogenesis, as a large number of mutants that affect different components of the Hh/Gli signaling system have been identified. By performing global profiling of gene expression in different Hh/Gli gain- and loss-of-function scenarios we identified known (e.g., ptc1 and nkx2.2a) and novel Hh-regulated genes that are differentially expressed in embryos with altered Hh/Gli signaling function. By uncovering changes in tissue-specific gene expression, we revealed new embryological processes that are influenced by Hh signaling. We thus provide a comprehensive survey of Hh/Gli-regulated genes during embryogenesis and we identify new Hh-regulated genes that may be targets of misregulation during tumorigenesis.

  3. EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH).

    Science.gov (United States)

    Porto, Graça; Brissot, Pierre; Swinkels, Dorine W; Zoller, Heinz; Kamarainen, Outi; Patton, Simon; Alonso, Isabel; Morris, Michael; Keeney, Steve

    2016-04-01

    Molecular genetic testing for hereditary hemochromatosis (HH) is recognized as a reference test to confirm the diagnosis of suspected HH or to predict its risk. The vast majority (typically >90%) of patients with clinically characterized HH are homozygous for the p.C282Y variant in the HFE gene, referred to as HFE-related HH. Since 1996, HFE genotyping was implemented in diagnostic algorithms for suspected HH, allowing its early diagnosis and prevention. However, the penetrance of disease in p.C282Y homozygotes is incomplete. Hence, homozygosity for p.C282Y is not sufficient to diagnose HH. Neither is p.C282Y homozygosity required for diagnosis as other rare forms of HH exist, generally referred to as non-HFE-related HH. These pose significant challenges when defining criteria for referral, testing protocols, interpretation of test results and reporting practices. We present best practice guidelines for the molecular genetic diagnosis of HH where recommendations are classified, as far as possible, according to the level and strength of evidence. For clarification, the guidelines' recommendations are preceded by a detailed description of the methodology and results obtained with a series of actions taken in order to achieve a wide expert consensus, namely: (i) a survey on the current practices followed by laboratories offering molecular diagnosis of HH; (ii) a systematic literature search focused on some identified controversial topics; (iii) an expert Best Practice Workshop convened to achieve consensus on the practical recommendations included in the guidelines.

  4. EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH)

    Science.gov (United States)

    Porto, Graça; Brissot, Pierre; Swinkels, Dorine W; Zoller, Heinz; Kamarainen, Outi; Patton, Simon; Alonso, Isabel; Morris, Michael; Keeney, Steve

    2016-01-01

    Molecular genetic testing for hereditary hemochromatosis (HH) is recognized as a reference test to confirm the diagnosis of suspected HH or to predict its risk. The vast majority (typically >90%) of patients with clinically characterized HH are homozygous for the p.C282Y variant in the HFE gene, referred to as HFE-related HH. Since 1996, HFE genotyping was implemented in diagnostic algorithms for suspected HH, allowing its early diagnosis and prevention. However, the penetrance of disease in p.C282Y homozygotes is incomplete. Hence, homozygosity for p.C282Y is not sufficient to diagnose HH. Neither is p.C282Y homozygosity required for diagnosis as other rare forms of HH exist, generally referred to as non-HFE-related HH. These pose significant challenges when defining criteria for referral, testing protocols, interpretation of test results and reporting practices. We present best practice guidelines for the molecular genetic diagnosis of HH where recommendations are classified, as far as possible, according to the level and strength of evidence. For clarification, the guidelines' recommendations are preceded by a detailed description of the methodology and results obtained with a series of actions taken in order to achieve a wide expert consensus, namely: (i) a survey on the current practices followed by laboratories offering molecular diagnosis of HH; (ii) a systematic literature search focused on some identified controversial topics; (iii) an expert Best Practice Workshop convened to achieve consensus on the practical recommendations included in the guidelines. PMID:26153218

  5. Synchrotron radiation backgrounds for the FCC-hh experiments

    Science.gov (United States)

    Collamati, F.; Boscolo, M.; Burkhardt, H.; Kersevan, R.

    2017-07-01

    In this paper we present a detailed analysis of the Synchrotron Radiation emitted by the 50 TeV protons of the FCC-hh in the last bending and quadrupole magnets upstream of the interaction region. We discuss the characteristics of this radiation in terms of power, flux, photon spectrum and fans with and without crossing angle for comparison. We mainly focus our study on the fraction of photons that may hit the detector, with a full tracking in GEANT4 that simulates the interaction within the central beam pipe.

  6. HH 114 MMS: a new chemically active outflow

    OpenAIRE

    Tafalla, M; Hacar, A.

    2013-01-01

    Context. A small group of bipolar protostellar outflows display strong emission from shock-tracer molecules such as SiO and CH3OH, and are generally referred to as "chemically active." The best-studied outflow from this group is the one in L 1157. Aims. We study the molecular emission from the bipolar outflow powered by the very young stellar object HH 114 MMS and compare its chemical composition with that of the L1157 outflow. Methods. We have used the IRAM 30m radio telescope to observe a n...

  7. Beam-beam studies for FCC-hh

    CERN Document Server

    AUTHOR|(CDS)2068329; Pieloni, Tatiana; Buffat, Xavier; Furuseth, Sondre Vik

    2017-01-01

    The Future Circular Collider hadron-hadron (FCC-hh) design study is currently exploring different IR design possibilities including round and flat optics or different crossing schemes. The present study intends to evaluate each scenario from the beam-beam effects point of view. In particular the single particle long term stability to maximize beam lifetimes and luminosity reach is used to quantify the differences. The impact of strong head on interactions on the beam quality and lifetime is addressed by means of GPU accelerated simulations code featuring a weak-strong 6-dimensional beam-beam interaction.

  8. Computational Exploration for Lead Compounds That Can Reverse the Nuclear Morphology in Progeria

    Directory of Open Access Journals (Sweden)

    Shailima Rampogu

    2017-01-01

    Full Text Available Progeria is a rare genetic disorder characterized by premature aging that eventually leads to death and is noticed globally. Despite alarming conditions, this disease lacks effective medications; however, the farnesyltransferase inhibitors (FTIs are a hope in the dark. Therefore, the objective of the present article is to identify new compounds from the databases employing pharmacophore based virtual screening. Utilizing nine training set compounds along with lonafarnib, a common feature pharmacophore was constructed consisting of four features. The validated Hypo1 was subsequently allowed to screen Maybridge, Chembridge, and Asinex databases to retrieve the novel lead candidates, which were then subjected to Lipinski’s rule of 5 and ADMET for drug-like assessment. The obtained 3,372 compounds were forwarded to docking simulations and were manually examined for the key interactions with the crucial residues. Two compounds that have demonstrated a higher dock score than the reference compounds and showed interactions with the crucial residues were subjected to MD simulations and binding free energy calculations to assess the stability of docked conformation and to investigate the binding interactions in detail. Furthermore, this study suggests that the Hits may be more effective against progeria and further the DFT studies were executed to understand their orbital energies.

  9. Cyclopamine treatment of full-blown Hh/Ptch-associated RMS partially inhibits Hh/Ptch signaling, but not tumor growth.

    Science.gov (United States)

    Ecke, Ines; Rosenberger, Albert; Obenauer, Silvia; Dullin, Christian; Aberger, Fritz; Kimmina, Sarah; Schweyer, Stefan; Hahn, Heidi

    2008-05-01

    Mutations in the Hedgehog (Hh) receptor Patched (Ptch) are responsible for a variety of tumors, which show ligand-independent stimulation of the Hh/Ptch signaling cascade. Cyclopamine is an alkaloid of the corn lily Veratrum californicum, which blocks activity of the pathway by inhibition of Smoothened (Smo), the signal transduction partner of Ptch. This results in growth inhibition of Hh/Ptch-dependent tumor cells in vitro, of subcutaneous xenografts as well as of precancerous lesions in Ptch(+/-) mice. However, the evidence that treatment with cyclopamine is an effective anti-cancer therapy against full-blown tumors is sparse. Here, we have investigated the responsiveness of full-blown Hh/Ptch-associated rhabdomyosarcoma (RMS) to this drug. Hh pathway activity and proliferation of cultured primary RMS cells was inhibited by cyclopamine. Hh signaling was also partially suppressed by the drug in RMS in vivo, but cyclopamine treatment did not result in stable disease or tumor regression. It also did not affect proliferation, apoptosis or the differentiation status of RMS. This was in contrast to anti-proliferative effects on tumor growth caused by doxorubicin, an anthracycline routinely used in therapy of human RMS. In summary, our data indicate that there must be additional factors that render full-blown Hh/Ptch-associated RMS insensitive against anti-proliferative effects of cyclopamine in vivo. (c) 2007 Wiley-Liss, Inc.

  10. The Spectral Energy Distribution of HH 100 IRS

    Science.gov (United States)

    Siebenmorgen, Ralf

    1996-01-01

    Recent progress in the modeling of the radiative transfer in star forming regions has lead to improved dusty envelope models. Such models can now explain in great detail the observed infrared spectrum. The success of such models suggests that input parameters correspond to the true physical situation of the environment of the young stellar object. However, so far only minor attention has been given to models which include the spectroscopic signature of ice bands. Such models are applied to the Herbig-Haro energy source HH100 IRS. Calculations have been performed to interpret the spectral energy distribution as a function of dust parameters such as the grain size, the ice volume fraction, and the 'fluffiness' of the particles. The infrared spectrum together with the strength of the water ice band of HH 100 IRS is successfully reproduced if an upper limit of the grain size below 1 micron is used. Comet-like grains, with sizes above 1 micron, result in a poor fit of the observations.

  11. Models for the Infrared Cavity of HH 46/47

    Science.gov (United States)

    Raga, A. C.; Noriega-Crespo, A.; Gonzalez, R. F.; Velazquez, P. F.

    2004-01-01

    We have modeled the limb-brightened cavity seen in the new Spitzer Space Telescope IR images of the southwest lobe of HH 46/47 as the bow shock driven by an outflow from a young, low-mass star. We present models in which the outflow is a perfectly collimated, straight jet, models in which the jet precesses, and finally a model in which the outflow takes the form of a latitude-dependent wind. We study cases in which the outflow moves into a constant-density cloud and into a stratified cloud. We find that the best agreement with the observed cavity is obtained for the precessing jet in a stratified cloud. However, the straight jet (traveling in a stratified cloud) also gives cavity shapes close to the observed one. The latitude-dependent wind model that we have computed gives cavity shapes that are substantially wider than the observed cavity. We therefore conclude that the cavity seen in the Spitzer observations of the southwest lobe of the HH 46/47 outflow do not seem to imply the presence of a latitude-dependent wind, as it can be modeled successfully with a perfectly collimated jet model.

  12. INTU is essential for oncogenic Hh signaling through regulating primary cilia formation in basal cell carcinoma.

    Science.gov (United States)

    Yang, N; Leung, E L-H; Liu, C; Li, L; Eguether, T; Jun Yao, X-J; Jones, E C; Norris, D A; Liu, A; Clark, R A; Roop, D R; Pazour, G J; Shroyer, K R; Chen, J

    2017-08-31

    Inturned (INTU), a cilia and planar polarity effector, performs prominent ciliogenic functions during morphogenesis, such as in the skin. INTU is expressed in adult tissues but its role in tissue maintenance is unknown. Here, we report that the expression of the INTU gene is aberrantly elevated in human basal cell carcinoma (BCC), coinciding with increased primary cilia formation and activated hedgehog (Hh) signaling. Disrupting Intu in an oncogenic mutant Smo (SmoM2)-driven BCC mouse model prevented the formation of BCC through suppressing primary cilia formation and Hh signaling, suggesting that Intu performs a permissive role during BCC formation. INTU is essential for intraflagellar transport A complex assembly during ciliogenesis. To further determine whether Intu is directly involved in the activation of Hh signaling downstream of ciliogenesis, we examined the Hh signaling pathway in mouse embryonic fibroblasts, which readily responds to the Hh pathway activation. Depleting Intu blocked Smo agonist-induced Hh pathway activation, whereas the expression of Gli2ΔN, a constitutively active Gli2, restored Hh pathway activation in Intu-deficient cells, suggesting that INTU functions upstream of Gli2 activation. In contrast, overexpressing Intu did not promote ciliogenesis or Hh signaling. Taken together, data obtained from this study suggest that INTU is indispensable during BCC tumorigenesis and that its aberrant upregulation is likely a prerequisite for primary cilia formation during Hh-dependent tumorigenesis.

  13. The prevalence of anxiety and depression in patients with or without hyperhidrosis (HH).

    Science.gov (United States)

    Bahar, Rayeheh; Zhou, Pingyu; Liu, Yudan; Huang, Yuanshen; Phillips, Arlie; Lee, Tim K; Su, Mingwan; Yang, Sen; Kalia, Sunil; Zhang, Xuejun; Zhou, Youwen

    2016-12-01

    There are conflicting data about the correlation between hyperhidrosis (HH) and anxiety and depression. We sought to determine the prevalence of anxiety and depression in patients with or without HH. We examined 2017 consecutive dermatology outpatients from Vancouver, British Columbia, Canada, and Shanghai, China, using Patient Health Questionnaire-9 and Generalized Anxiety Disorder-7 scales for anxiety and depression assessments. Multivariable logistic regression analysis was performed to evaluate if the impact of HH on anxiety and depression is dependent on demographic factors and diagnoses of the patients' presenting skin conditions. The prevalence of anxiety and depression was 21.3% and 27.2% in patients with HH, respectively, and 7.5% and 9.7% in patients without HH, respectively (P value HH severity and the prevalence of anxiety and depression. Multivariable analysis showed that HH-associated increase in anxiety and depression prevalence is independent of demographic factors and presenting skin conditions. The data from the questionnaires relied on the accuracy of patients' self-reports. Both single variant and multivariable analyses showed a significant association between HH and the prevalence of anxiety and depression in a HH severity-dependent manner. Copyright © 2016 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

  14. The contrasting roles of primary cilia and cytonemes in Hh signaling.

    Science.gov (United States)

    Kornberg, Thomas B

    2014-10-01

    Hedgehog (Hh) is a paracrine signaling protein with major roles in development and disease. In vertebrates and invertebrates, Hh signal transduction is carried out almost entirely by evolutionarily conserved components, and in both, intercellular movement of Hh is mediated by cytonemes - specialized filopodia that serve as bridges that bring distant cells into contact. A significant difference is the role of the primary cilium, a slender, tubulin-based protuberance of many vertebrate cells. Although the primary cilium is essential for Hh signaling in cells that have one, most Drosophila cells lack a primary cilium. This perspective addresses the roles of primary cilia and cytonemes, and proposes that for Hh signaling, the role of primary cilia is to provide a specialized hydrophobic environment that hosts lipid-modified Hh and other components of Hh signal transduction after Hh has traveled from elsewhere in the cell. Implicit in this model is the idea that initial binding and uptake of Hh is independent of and segregated from the processes of signal transduction and activation. Copyright © 2014 Elsevier Inc. All rights reserved.

  15. Temsirolimus Partially Rescues the Hutchinson-Gilford Progeria Cellular Phenotype.

    Directory of Open Access Journals (Sweden)

    Diana Gabriel

    Full Text Available Hutchinson-Gilford syndrome (HGPS, OMIM 176670, a rare premature aging disorder that leads to death at an average age of 14.7 years due to myocardial infarction or stroke, is caused by mutations in the LMNA gene. Lamins help maintain the shape and stability of the nuclear envelope in addition to regulating DNA replication, DNA transcription, proliferation and differentiation. The LMNA mutation results in the deletion of 50 amino acids from the carboxy-terminal region of prelamin A, producing the truncated, farnesylated protein progerin. The accumulation of progerin in HGPS nuclei causes numerous morphological and functional changes that lead to premature cellular senescence. Attempts to reverse this HGPS phenotype have identified rapamycin, an inhibitor of mammalian target of rapamycin (mTOR, as a drug that is able to rescue the HGPS cellular phenotype by promoting autophagy and reducing progerin accumulation. Rapamycin is an obvious candidate for the treatment of HGPS disease but is difficult to utilize clinically. To further assess rapamycin's efficacy with regard to proteostasis, mitochondrial function and the degree of DNA damage, we tested temsirolimus, a rapamycin analog with a more favorable pharmacokinetic profile than rapamycin. We report that temsirolimus decreases progerin levels, increases proliferation, reduces misshapen nuclei, and partially ameliorates DNA damage, but does not improve proteasome activity or mitochondrial dysfunction. Our findings suggest that future therapeutic strategies should identify new drug combinations and treatment regimens that target all the dysfunctional hallmarks that characterize HGPS cells.

  16. The mutant form of lamin A that causes Hutchinson-Gilford progeria is a biomarker of cellular aging in human skin.

    Directory of Open Access Journals (Sweden)

    Dayle McClintock

    2007-12-01

    Full Text Available Hutchinson-Gilford progeria syndrome (HGPS, OMIM 176670 is a rare disorder characterized by accelerated aging and early death, frequently from stroke or coronary artery disease. 90% of HGPS cases carry the LMNA G608G (GGC>GGT mutation within exon 11 of LMNA, activating a splice donor site that results in production of a dominant negative form of lamin A protein, denoted progerin. Screening 150 skin biopsies from unaffected individuals (newborn to 97 years showed that a similar splicing event occurs in vivo at a low level in the skin at all ages. While progerin mRNA remains low, the protein accumulates in the skin with age in a subset of dermal fibroblasts and in a few terminally differentiated keratinocytes. Progerin-positive fibroblasts localize near the basement membrane and in the papillary dermis of young adult skin; however, their numbers increase and their distribution reaches the deep reticular dermis in elderly skin. Our findings demonstrate that progerin expression is a biomarker of normal cellular aging and may potentially be linked to terminal differentiation and senescence in elderly individuals.

  17. HH137 and 138: Discovering New Knots and a Molecular Outflow with Gemini and APEX

    Science.gov (United States)

    Ferrero, L. V.; Cappa, C. E.; Gomez, M.

    2017-07-01

    We present a multi-frequency study of HH 137 and HH 138 using Gemini images and APEX molecular line data, as well as Spitzer images. Several 2.12 micron knots linked to HH137 are identified in the Gemini image. 12^CO(3-2), 13^CO(3-2), and C18^O(3-2) line data reveal the molecular counterpart of HH 137. Spitzer combined images suggest the location of the exciting source of HH 137, almost coincident with a high-density molecular clump detected in C18^O. We derive the main physical parameters of the molecular clump and the molecular outflow, and propose a simple scenario for the whole complex.

  18. Synthetic Small Molecule Inhibitors of Hh Signaling As Anti-Cancer Chemotherapeutics.

    Science.gov (United States)

    Maschinot, C A; Pace, J R; Hadden, M K

    2015-01-01

    The hedgehog (Hh) pathway is a developmental signaling pathway that is essential to the proper embryonic development of many vertebrate systems. Dysregulation of Hh signaling has been implicated as a causative factor in the development and progression of several forms of human cancer. As such, the development of small molecule inhibitors of Hh signaling as potential anti-cancer chemotherapeutics has been a major area of research interest in both academics and industry over the past ten years. Through these efforts, synthetic small molecules that target multiple components of the Hh pathway have been identified and advanced to preclinical or clinical development. The goal of this review is to provide an update on the current status of several synthetic small molecule Hh pathway inhibitors and explore the potential of several recently disclosed inhibitory scaffolds.

  19. EGFR/ARF6 regulation of Hh signalling stimulates oncogenic Ras tumour overgrowth.

    Science.gov (United States)

    Chabu, Chiswili; Li, Da-Ming; Xu, Tian

    2017-03-10

    Multiple signalling events interact in cancer cells. Oncogenic Ras cooperates with Egfr, which cannot be explained by the canonical signalling paradigm. In turn, Egfr cooperates with Hedgehog signalling. How oncogenic Ras elicits and integrates Egfr and Hedgehog signals to drive overgrowth remains unclear. Using a Drosophila tumour model, we show that Egfr cooperates with oncogenic Ras via Arf6, which functions as a novel regulator of Hh signalling. Oncogenic Ras induces the expression of Egfr ligands. Egfr then signals through Arf6, which regulates Hh transport to promote Hh signalling. Blocking any step of this signalling cascade inhibits Hh signalling and correspondingly suppresses the growth of both, fly and human cancer cells harbouring oncogenic Ras mutations. These findings highlight a non-canonical Egfr signalling mechanism, centered on Arf6 as a novel regulator of Hh signalling. This explains both, the puzzling requirement of Egfr in oncogenic Ras-mediated overgrowth and the cooperation between Egfr and Hedgehog.

  20. A Hh-driven gene network controls specification, pattern and size of the Drosophila simple eyes.

    Science.gov (United States)

    Aguilar-Hidalgo, Daniel; Domínguez-Cejudo, María A; Amore, Gabriele; Brockmann, Anette; Lemos, María C; Córdoba, Antonio; Casares, Fernando

    2013-01-01

    During development, extracellular signaling molecules interact with intracellular gene networks to control the specification, pattern and size of organs. One such signaling molecule is Hedgehog (Hh). Hh is known to act as a morphogen, instructing different fates depending on the distance to its source. However, how Hh, when signaling across a cell field, impacts organ-specific transcriptional networks is still poorly understood. Here, we investigate this issue during the development of the Drosophila ocellar complex. The development of this sensory structure, which is composed of three simple eyes (or ocelli) located at the vertices of a triangular patch of cuticle on the dorsal head, depends on Hh signaling and on the definition of three domains: two areas of eya and so expression--the prospective anterior and posterior ocelli--and the intervening interocellar domain. Our results highlight the role of the homeodomain transcription factor engrailed (en) both as a target and as a transcriptional repressor of hh signaling in the prospective interocellar region. Furthermore, we identify a requirement for the Notch pathway in the establishment of en maintenance in a Hh-independent manner. Therefore, hh signals transiently during the specification of the interocellar domain, with en being required here for hh signaling attenuation. Computational analysis further suggests that this network design confers robustness to signaling noise and constrains phenotypic variation. In summary, using genetics and modeling we have expanded the ocellar gene network to explain how the interaction between the Hh gradient and this gene network results in the generation of stable mutually exclusive gene expression domains. In addition, we discuss some general implications our model may have in some Hh-driven gene networks.

  1. First Reported Patient with Human ERCC1 Deficiency Has Cerebro-Oculo-Facio-Skeletal Syndrome with a Mild Defect in Nucleotide Excision Repair and Severe Developmental Failure

    OpenAIRE

    Jaspers, Nicolaas G.J.; Raams, Anja; Silengo, Margherita Cirillo; Wijgers, Nils; Niedernhofer, Laura J; Robinson, Andria Rasile; Giglia-Mari, Giuseppina; Hoogstraten, Deborah; Kleijer, Wim J.; Hoeijmakers, Jan H.J.; Vermeulen, Wim

    2007-01-01

    Nucleotide excision repair (NER) is a genome caretaker mechanism responsible for removing helix-distorting DNA lesions, most notably ultraviolet photodimers. Inherited defects in NER result in profound photosensitivity and the cancer-prone syndrome xeroderma pigmentosum (XP) or two progeroid syndromes: Cockayne and trichothiodystrophy syndromes. The heterodimer ERCC1-XPF is one of two endonucleases required for NER. Mutations in XPF are associated with mild XP and rarely with progeria. Mutati...

  2. A spitzer space telescope study of SN 2002hh: An infrared echo from a type llP supernova

    DEFF Research Database (Denmark)

    Meikle, W. P. S.; Mattila, S.; Gerardy, C. L.

    2006-01-01

    Stars: Supernovae: General, supernovae: individual (NGC 6946), Stars: Supernovae: Individual: Alphanumeric: SN 2002hh Udgivelsesdato: May 22......Stars: Supernovae: General, supernovae: individual (NGC 6946), Stars: Supernovae: Individual: Alphanumeric: SN 2002hh Udgivelsesdato: May 22...

  3. Skeletal abnormalities of acrogeria, a progeroid syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Ho, A.; White, S.J.; Rasmussen, J.E.

    1987-08-01

    We report the skeletal abnormalities in a 4 1/2-year-old boy with acrogeria, a progeroid syndrome of premature aging of the skin without the involvement of internal organs seen in Hutchinson-Gilford progeria syndrome. Acro-osteolysis of the distal phalanges, delayed cranial suture closure with wormian bones, linear lucent defects of the metaphyses, and antegonial notching of the mandible are the predominant skeletal features of the disorder. The skeletal features described in 21 other reported cases of acrogeria are summarized.

  4. Human CAFs promote lymphangiogenesis in ovarian cancer via the Hh-VEGF-C signaling axis.

    Science.gov (United States)

    Wei, Rui; Lv, Mengqin; Li, Fei; Cheng, Teng; Zhang, Zhengzhong; Jiang, Guiying; Zhou, Ying; Gao, Ruiqiu; Wei, Xiao; Lou, Jicheng; Wu, Xizi; Luo, Danfeng; Ma, Xiangyi; Jiang, Jin; Ma, Ding; Xi, Ling

    2017-09-15

    Cancer-associated fibroblasts (CAFs) play a pivotal role in the development and progression of many human cancers. Recent studies have shown that Hedgehog (Hh) signalling modulates the stromal microenvironment and prepares a suitable niche for tumour metastasis. However, the detailed molecular mechanisms underlying CAF-mediated lymphangiogenesis have not been fully elucidated. Therefore, our goal is to illustrate whether Hh ligands can activate Hh signalling in CAFs in a paracrine fashion and elucidate the effect of CAFs on lymphangiogenesis. We determined here that Sonic Hedgehog (SHH) secreted by ovarian cancer (OC) cells activated Hh signalling in CAFs and promoted the proliferation of CAFs. Moreover, we co-injected SHH-overexpressing OC cells and CAFs in a xenograft model and found that the CAFs accelerated tumourigenesis and lymphangiogenesis in OC. Mechanistically, we found that SHH secreted by the OC cells induced VEGF-C expression in CAFs. Inhibition of Hh signalling in CAFs decreased VEGF-C expression and diminished the positive role of CAFs in supporting tumourigenesis and lymphangiogenesis in a murine xenograft model. Our results demonstrate that CAFs constitute a supportive niche for cancer lymphangiogenesis via the Hh/VEGF-C signalling axis and provide evidence for the clinical application of Hh inhibitors in the treatment of OC.

  5. Mepyramine-JNJ7777120-hybrid compounds show high affinity to hH(1)R, but low affinity to hH(4)R.

    Science.gov (United States)

    Wagner, Eva; Wittmann, Hans-Joachim; Elz, Sigurd; Strasser, Andrea

    2011-11-01

    In literature, a synergism between histamine H(1) and H(4) receptor is discussed. Furthermore, it was shown, that the combined application of mepyramine, a H(1) antagonist and JNJ7777120, a H(4) receptor ligand leads to a synergistic effect in the acute murine asthma model. Thus, the aim of this study was to develop new hybrid ligands, containing one H(1) and one H(4) pharmacophor, connected by an appropriate spacer, in order to address both, H(1)R and H(4)R. Within this study, we synthesized nine hybrid compounds, which were pharmacologically characterized at hH(1)R and hH(4)R. The new compounds revealed (high) affinity to hH(1)R, but showed only low affinity to hH(4)R. Additionally, we performed molecular dynamic studies for some selected compounds at hH(1)R, in order to obtain information about the binding mode of these compounds on molecular level. Copyright © 2011 Elsevier Ltd. All rights reserved.

  6. Comparative evaluation of H&H and WFNS grading scales with modified H&H (sans systemic disease): A study on 1000 patients with subarachnoid hemorrhage.

    Science.gov (United States)

    Aggarwal, Ashish; Dhandapani, Sivashanmugam; Praneeth, Kokkula; Sodhi, Harsimrat Bir Singh; Pal, Sudhir Singh; Gaudihalli, Sachin; Khandelwal, N; Mukherjee, Kanchan K; Tewari, M K; Gupta, Sunil Kumar; Mathuriya, S N

    2017-03-15

    The comparative studies on grading in subarachnoid hemorrhage (SAH) had several limitations such as the unclear grading of Glasgow Coma Scale 15 with neurological deficits in World Federation of Neurosurgical Societies (WFNS), and the inclusion of systemic disease in Hunt and Hess (H&H) scales. Their differential incremental impacts and optimum cut-off values for unfavourable outcome are unsettled. This is a prospective comparison of prognostic impacts of grading schemes to address these issues. SAH patients were assessed using WFNS, H&H (including systemic disease), modified H&H (sans systemic disease) and followed up with Glasgow Outcome Score (GOS) at 3 months. Their performance characteristics were analysed as incremental ordinal variables and different grading scale dichotomies using rank-order correlation, sensitivity, specificity, positive predictive value, negative predictive value, Youden's J and multivariate analyses. A total of 1016 patients were studied. As univariate incremental variable, H&H sans systemic disease had the best negative rank-order correlation coefficient (-0.453) with respect to lower GOS (p H&H sans systemic disease had the greatest adjusted incremental impact of 0.72 (95% confidence interval (CI) 0.54-0.91) against a lower GOS as compared to 0.6 (95% CI 0.45-0.74) and 0.55 (95% CI 0.42-0.68) for H&H and WFNS grades, respectively. In multivariate categorical analysis, H&H grades 4-5 sans systemic disease had the greatest impact on unfavourable GOS with an adjusted odds ratio of 6.06 (95% CI 3.94-9.32). To conclude, H&H grading sans systemic disease had the greatest impact on unfavourable GOS. Though systemic disease is an important prognostic factor, it should be considered distinctly from grading. Appropriate cut-off values suggesting unfavourable outcome for H&H and WFNS were 4-5 and 3-5, respectively, indicating the importance of neurological deficits in addition to level of consciousness.

  7. Suppression of phase and amplitude J(HH) modulations in HSQC experiments.

    Science.gov (United States)

    Castañar, Laura; Sistaré, Eduard; Virgili, Albert; Williamson, R Thomas; Parella, Teodor

    2015-02-01

    The amplitude and the phase of cross peaks in conventional 2D HSQC experiments are modulated by both proton-proton, J(HH), and proton-carbon, (1)J(CH), coupling constants. It is shown by spectral simulation and experimentally that J(HH) interferences are suppressed in a novel perfect-HSQC pulse scheme that incorporates perfect-echo INEPT periods. The improved 2D spectra afford pure in-phase cross peaks with respect to (1)J(CH) and J(HH), irrespective of the experiment delay optimization. In addition, peak volumes are not attenuated by the influence of J(HH), rendering practical issues such as phase correction, multiplet analysis, and signal integration more appropriate. Copyright © 2014 John Wiley & Sons, Ltd.

  8. Hh signalling is essential for somatic stem cell maintenance in the Drosophila testis niche.

    Science.gov (United States)

    Michel, Marcus; Kupinski, Adam P; Raabe, Isabel; Bökel, Christian

    2012-08-01

    In the Drosophila testis, germline stem cells (GSCs) and somatic cyst stem cells (CySCs) are arranged around a group of postmitotic somatic cells, termed the hub, which produce a variety of growth factors contributing to the niche microenvironment that regulates both stem cell pools. Here we show that CySC but not GSC maintenance requires Hedgehog (Hh) signalling in addition to Jak/Stat pathway activation. CySC clones unable to transduce the Hh signal are lost by differentiation, whereas pathway overactivation leads to an increase in proliferation. However, unlike cells ectopically overexpressing Jak/Stat targets, the additional cells generated by excessive Hh signalling remain confined to the testis tip and retain the ability to differentiate. Interestingly, Hh signalling also controls somatic cell populations in the fly ovary and the mammalian testis. Our observations might therefore point towards a higher degree of organisational homology between the somatic components of gonads across the sexes and phyla than previously appreciated.

  9. Epigenetic high regulation of ATAD2 regulates the Hh pathway in human hepatocellular carcinoma.

    Science.gov (United States)

    Wu, Gang; Lu, Xiaojun; Wang, Yawei; He, Hui; Meng, Xiangyu; Xia, Shuguan; Zhen, Kunming; Liu, Yongfeng

    2014-07-01

    ATAD2 is associated with many cellular progresses such as cell growth, differentiation and apoptosis. Some studies suggest ATAD2 is highly expressed in cancer cells. In our previous studies, we found that ATAD2 is highly expressed in HCC tissues, compared with adjacent normal tissues, and patients with high expression of ATAD2 had a poorer prognosis. Moreover, we found mir-372 can regulate the expression of ATAD2 in HCC cell lines. We also detected a relationship between the mRNA expression of ATAD2 and Ptch1 by gene microarray. Here, we completed the function studies of ATAD2 in vivo and in vitro, and tested whether ATAD2 could regulate the Hh pathway. ATAD2 and Hh pathway protein expressions in 80 HCC specimens were examined by immunohistochemistry (IHC). The mRNA expression of ATAD2 and Hh pathway members in paired-HCC tissues and cell lines were, respectively, analyzed using quantitative PCR. ATAD2‑RNAi was transduced into HCCLM3 and Huh7 cells, using a lentiviral vector. The effect of ATAD2 in HCC cell lines on cell cycle and apoptosis were evaluated by flow cytometry. Tumorigenicity experiments in nude mice were performed to test the function of ATAD2 in vivo. Pharmacological regulation of Hh signaling was performed to test the relation between the ATAD2 and Hh pathways and C-myc. We found that ATAD2 and Ptch1 were both highly expressed in HCC tissues, compared with paired normal hepatic tissues. In addition, we found that ATAD2 could affect the expression of the Hh pathway by PCR and western blot anaysis in HCC cell lines, by observing the outcome before and after transfection. We speculate that ATAD2 cooperates with the MYC gene to regulate the expression of SMO and Gli, activating the Hh pathway and inducing an active feedback of the Hh pathway.

  10. Hh signaling regulates patterning and morphogenesis of the pharyngeal arch-derived skeleton.

    Science.gov (United States)

    Swartz, Mary E; Nguyen, Van; McCarthy, Neil Q; Eberhart, Johann K

    2012-09-01

    The proper function of the craniofacial skeleton requires the proper shaping of many individual skeletal elements. Neural crest cells generate much of the craniofacial skeleton and morphogenesis of skeletal elements occurs in transient, reiterated structures termed pharyngeal arches. The shape of individual elements depends upon intrinsic patterning within the neural crest as well as extrinsic signals to the neural crest from adjacent tissues within the arches. Hedgehog (Hh) signaling is known to play roles in craniofacial development, yet its involvement in intrinsic and extrinsic patterning of the craniofacial skeleton is still not well understood. Here, we show that morphogenetic movements of the pharyngeal arches and patterning of the neural crest require Hh signaling. Loss of Hh signaling, in smoothened (smo) mutants, disrupts the expression of some Dlx genes as well as other markers of dorsal/ventral patterning of the neural crest. Transplantation of wild-type neural crest cells into smo mutants rescues this defect, demonstrating that the neural crest requires reception of Hh signals for proper patterning. Despite the rescue, morphogenesis of the facial skeleton is not fully recovered. Through transplant analyses, we find two additional requirements for Hh signaling. The endoderm requires the reception of Hh signals for proper morphogenetic movements of the pharyngeal arches and the neural crest require the reception of Hh signaling for the activity of a reverse signal that maintains sonic hedgehog expression in the endoderm. Collectively, these results demonstrate that Hh signaling is essential to establish intrinsic and extrinsic patterning information for the craniofacial skeleton. Copyright © 2012 Elsevier Inc. All rights reserved.

  11. Dual function of suppressor of fused in Hh pathway activation and mouse spinal cord patterning.

    Science.gov (United States)

    Liu, Jinling; Heydeck, Westley; Zeng, Huiqing; Liu, Aimin

    2012-02-15

    The morphogen Sonic hedgehog, one of the Hedgehog (Hh) family of secreted proteins, plays a key role in patterning the mammalian spinal cord along its dorsoventral (D/V) axis through the activation of Glioma-associated oncogene (Gli) family of transcription factors. Suppressor of Fused (Sufu), a Gli-interacting protein, modulates the D/V patterning of the spinal cord by antagonizing Hh signaling. The molecular mechanisms underlying the function of Sufu in Hh pathway activation and spinal cord D/V patterning remain controversial, particularly in light of recent findings that Sufu protects Gli2 and Gli3 proteins from proteasomal degradation. In the current study, we show that Hh pathway activation and dorsal expansion of ventral spinal cord cell types in the absence of Sufu depend on the activator activities of all three Gli family proteins. We also show that Sufu plays a positive role in the maximal activation of Hh signaling that defines the ventral-most cell fate in the mammalian spinal cord, likely through protecting Gli2 and Gli3 proteins from degradation. Finally, by altering the level of Gli3 repressor on a background of reduced Gli activator activities, we reveal an important contribution of Gli3 repressor activity to the Hh pathway activation and the D/V patterning of the spinal cord. Copyright © 2011 Elsevier Inc. All rights reserved.

  12. Dihydrogen intermolecular contacts in group 13 compounds: HH or EH (E = B, Al, Ga) interactions?

    Science.gov (United States)

    Echeverría, Jorge; Aullón, Gabriel; Alvarez, Santiago

    2017-02-28

    A systematic theoretical analysis of homopolar dihydrogen interactions in group 13 compounds is presented here. Ab initio calculations and structural analysis allow us to demonstrate that interactions involving B-HH-B contacts are comparable in strength to the previously studied C-HH-C ones, yet attractive and important for the stabilization of dimers of large molecules. We have also shown that a polyhedral skeleton enhances the B-HH-B interaction strength with respect to non-polyhedral compounds, and it has also been proven that Al-HH-Al and Ga-HH-Ga interactions can be attractive in some cases. If HE (B, Al and Ga) short contacts are present, the interaction is significantly strengthened, especially for Al and Ga. In general, HH interactions combined with associated HE (B, Al and Ga) short contacts are responsible for the stability of a large number of dimers of group 13 compounds and may play an important role in the packing of their crystal structures.

  13. HH/GLI signalling as a new therapeutic target for patients with oral squamous cell carcinoma.

    Science.gov (United States)

    Yan, Ming; Wang, Lijun; Zuo, Hui; Zhang, Zhiyuan; Chen, Wantao; Mao, Li; Zhang, Ping

    2011-06-01

    Aberrant activation of HH/GLI has recently been reported in multiple cancer types, yet its role in oral squamous cell carcinoma (OSCC) has not been investigated. In this study, we aimed to determine the role of HH/GLI in OSCC. Expression of GLI1 and GLI2 was examined in OSCC samples from 136 patients by immunohistochemistry and correlated with clinicopathology parameters and clinical outcomes of the patients. Two HH/GLI specific small molecule inhibitors cyclopamine and GANT61, were used to test the potential role of HH/GLI in OSCC. We found that GLI2, one of the main transcriptional activators of HH/GLI signalling, was expressed in 60 (44%) of the 136 OSCC samples and the expression was significantly associated with poor clinical outcomes. Only 44% of the patients whose tumours expressed GLI2 survived at 5years after surgery compared to 77% of those whose tumours lacked the GLI2 expression (PHH/GLI pathway plays an important role in OSCC progression. Together with the finding that expression of GLI2 is strongly associated with a poor clinic outcome of OSCC patients, the data suggest that a subset of OSCC patients may benefit from anti-HH/GLI therapies. Copyright © 2011. Published by Elsevier Ltd.

  14. BMP and Hh signaling affects primordial germ cell division in Drosophila.

    Science.gov (United States)

    Sato, Takuya; Ogata, Jun; Niki, Yuzo

    2010-10-01

    The germline is segregated from the remainder of the soma during early embryonic development in metazoan species. In Drosophila, female primordial germ cells (PGCs) continue to proliferate during larval development, and become germline stem cells at the early pupal stage. To elucidate the roles of growth factors in larval PGC division, we examined expression patterns of a bone morphogenetic protein (BMP) growth factor, Decapentaplegic (Dpp), and Hedgehog (Hh), along with factors downstream of each, in the ovary during larval development. Dpp signaling appeared in the ovarian soma from early larval development, and was prominent in the terminal filament cells at late larval stage, whereas Hh appeared in the ovarian soma and PGCs from the third instar larval stage. The number of PGCs decreased when components of these signal transduction pathways were abrogated by RNAi in the PGCs, indicating that both Dpp and Hh signals directly regulate PGC proliferation. Experiments on the up- and down-regulation of Dpp and Hh with a tissue-specific Gal4 driver indicated that Dpp and Hh act as extrinsic and autocrine growth factors. Furthermore, heat-pulse experiments with hs-Gal4 showed that Dpp is active in PGC proliferation throughout larval development, whereas Hh has effects only during late larval development. In addition to Dpp, the reduction of Glass bottom boat (Gbb), another BMP molecule, caused a decrease in the number of PGCs and initiation of larval PGCs differentiation into cystocytes, indicating that Gbb functions to promote PGC division and repress differentiation.

  15. The mammalian Cos2 homolog Kif7 plays an essential role in modulating Hh signal transduction during development.

    Science.gov (United States)

    Endoh-Yamagami, Setsu; Evangelista, Marie; Wilson, Deanna; Wen, Xiaohui; Theunissen, Jan-Willem; Phamluong, Khanhky; Davis, Matti; Scales, Suzie J; Solloway, Mark J; de Sauvage, Frederic J; Peterson, Andrew S

    2009-08-11

    The Hedgehog (Hh) signaling pathway regulates development in animals ranging from flies to humans. Although its framework is conserved, differences in pathway components have been reported. A kinesin-like protein, Costal2 (Cos2), plays a central role in the Hh pathway in flies. Knockdown of a zebrafish homolog of Cos2, Kif7, results in ectopic Hh signaling, suggesting that Kif7 acts primarily as a negative regulator of Hh signal transduction. However, in vitro analysis of the function of mammalian Kif7 and the closely related Kif27 has led to the conclusion that neither protein has a role in Hh signaling. Using Kif7 knockout mice, we demonstrate that mouse Kif7, like its zebrafish and Drosophila homologs, plays a role in transducing the Hh signal. We show that Kif7 accumulates at the distal tip of the primary cilia in a Hh-dependent manner. We also demonstrate a requirement for Kif7 in the efficient localization of Gli3 to cilia in response to Hh and for the processing of Gli3 to its repressor form. These results suggest a role for Kif7 in coordinating Hh signal transduction at the tip of cilia and preventing Gli3 cleavage into a repressor form in the presence of Hh.

  16. Defining the sister rat mammary tumor cell lines HH-16 cl.2/1 and HH-16.cl.4 as an in vitro cell model for Erbb2.

    Science.gov (United States)

    Louzada, Sandra; Adega, Filomena; Chaves, Raquel

    2012-01-01

    Cancer cell lines have been shown to be reliable tools in genetic studies of breast cancer, and the characterization of these lines indicates that they are good models for studying the biological mechanisms underlying this disease. Here, we describe the molecular cytogenetic/genetic characterization of two sister rat mammary tumor cell lines, HH-16 cl.2/1 and HH-16.cl.4, for the first time. Molecular cytogenetic analysis using rat and mouse chromosome paint probes and BAC/PAC clones allowed the characterization of clonal chromosome rearrangements; moreover, this strategy assisted in revealing detected breakpoint regions and complex chromosome rearrangements. This comprehensive cytogenetic analysis revealed an increase in the number of copies of the Mycn and Erbb2 genes in the investigated cell lines. To analyze its possible correlation with expression changes, relative RNA expression was assessed by real-time reverse transcription quantitative PCR and RNA FISH. Erbb2 was found to be overexpressed in HH-16.cl.4, but not in the sister cell line HH-16 cl.2/1, even though these lines share the same initial genetic environment. Moreover, the relative expression of Erbb2 decreased after global genome demethylation in the HH-16.cl.4 cell line. As these cell lines are commercially available and have been used in previous studies, the present detailed characterization improves their value as an in vitro cell model. We believe that the development of appropriate in vitro cell models for breast cancer is of crucial importance for revealing the genetic and cellular pathways underlying this neoplasy and for employing them as experimental tools to assist in the generation of new biotherapies.

  17. Nondetectable cone and rod electroretinographic responses in a patient with Cockayne syndrome.

    Science.gov (United States)

    Ikeda, N; Yamamoto, S; Hayasaka, S; Fukuo, Y; Koike, T

    1995-01-01

    A 10-year-old girl complained or poor vision in both eyes. The patient showed progeria, physical and mental retardation, sensorineural hearing loss, cutaneous photosensitivity, hyperopia, poor pupillary dilation, exotropia, salt-and-pepper fundi, nondetectable cone and rod electroretinographic (ERG) responses, cerebral atrophy on computed tomography, and demyelination of periventricular white matter on magnetic resonance imaging. We believe that nondetectable cone and rod ERG responses in Cockayne syndrome, as demonstrated in our patient, may be uncommon.

  18. PROPER MOTIONS OF THE OUTER KNOTS OF THE HH 80/81/80N RADIO-JET

    Energy Technology Data Exchange (ETDEWEB)

    Masqué, Josep M.; Rodriguez, Luis F.; Carrasco-González, Carlos [Instituto de Radioastronomía y Astrofísica, Universidad Nacional Autónoma de México, Morelia 58089, México (Mexico); Araudo, Anabella [University of Oxford, Astrophysics, Keble Road, Oxford OX1 3RH (United Kingdom); Estalella, Robert [Departament d’Astronomia i Meteorologia and Institut de Ciències del Cosmos (IEEC-UB), Universitat de Barcelona, Martí i Franquès 1, E-08028 Barcelona, Catalunya (Spain); Anglada, Guillem; Osorio, Mayra [Instituto de Astrofísica de Andalucía (CSIC), Apartado 3004, E-18080 Granada (Spain); Girart, Josep M. [Institut de Ciències de l’Espai (CSIC-IEEC), Campus UAB, Carrer de Can Magrans, S/N, E-08193 Cerdanyola del Vallès, Catalunya (Spain)

    2015-11-20

    The radio-knots of the Herbig–Haro (HH) 80/81/80N jet extend from the HH 80 object to the recently discovered Source 34 and has a total projected jet size of 10.3 pc, constituting the largest collimated radio-jet system known so far. It is powered by the bright infrared source IRAS 18162−2048 associated with a massive young stellar object. We report 6 cm JVLA observations that, compared with previous 6 cm VLA observations carried out in 1989, allow us to derive proper motions of the HH 80, HH 81, and HH 80N radio knots located about 2.5 pc away in projection from the powering source. For the first time, we measure proper motions of the optically obscured HH 80N object providing evidence that this knot, along with HH 81 and HH 80 are associated with the same radio-jet. We also confirm the presence of Source 34, located further north of HH 80N, previously proposed to belong to the jet.We derived that the tangential velocity of HH 80N is 260 km s{sup −1} and has a direction in agreement with the expected direction of a ballistic precessing jet. The HH 80 and HH 81 objects have tangential velocities of 350 and 220 km s{sup −1}, respectively, but their directions are somewhat deviated from the expected jet path. The velocities of the HH objects studied in this work are significantly lower than those derived for the radio knots of the jet close to the powering source (600–1400 km s{sup −1}) suggesting that the jet is slowing down due to a strong interaction with the ambient medium. As a result, since HH 80 and HH 81 are located near the edge of the cloud, the inhomogeneous and low density medium may contribute to skew the direction of their determined proper motions. The HH 80 and HH 80N emission at 6 cm is, at least in part, probably synchrotron radiation produced by relativistic electrons in a magnetic field of 1 mG. If these electrons are accelerated in a reverse adiabatic shock, we estimate a jet total density of ≲1000 cm{sup −3}. All of these

  19. Physalin H from Solanum nigrum as an Hh signaling inhibitor blocks GLI1-DNA-complex formation.

    Science.gov (United States)

    Arai, Midori A; Uchida, Kyoko; Sadhu, Samir K; Ahmed, Firoj; Ishibashi, Masami

    2014-01-13

    Hedgehog (Hh) signaling plays an important role in embryonic development, cell maintenance and cell proliferation. Moreover, Hh signaling contributes to the growth of cancer cells. Physalins are highly oxidized natural products with a complex structure. Physalins (1-7) were isolated from Solanum nigrum (Solanaceae) collected in Bangladesh by using our cell-based assay. The isolated physalins included the previously reported Hh inhibitors 5 and 6. Compounds 1 and 4 showed strong inhibition of GLI1 transcriptional activity, and exhibited cytotoxicity against cancer cell lines with an aberrant activation of Hh signaling. Compound 1 inhibited the production of the Hh-related proteins patched (PTCH) and BCL2. Analysis of the structures of different physalins showed that the left part of the physalins was important for Hh inhibitory activity. Interestingly, physalin H (1) disrupted GLI1 binding to its DNA binding domain, while the weak inhibitor physalin G (2) did not show inhibition of GLI1-DNA complex formation.

  20. Molecular hydrogen and excitation in the HH 1-2 system

    Science.gov (United States)

    Noriega-Crespo, A.; Garnavich, P. M.

    1994-01-01

    We present a series of molecular hydrogen images of the Herbig-Haro 1-2 system in the 1-0 S(1) transition at 2.121 microns, with a spatial resolution of approximately 2 sec. The distribution of H2 is then compared with that of the excitation, given by the (S II) 6717+6731 to H-alpha line ratio. We find that most optical condensations in the HH 1-2 system, including the VLA 1 jet, have H2 counterparts. H2 emission is detected in most low excitation knots, as expected for low velocity shocks (50 km/s less than), but also in high excitation regions, like in HH 1F and HH 2A min. For these latter objects, the H2 emission could be due to the interaction of the preionizing flux, produced by 150-200 km/s shocks, with the surrounding interstellar matter, i.e., fluorescence. The lack fluorescent lines in the ultraviolet (UV), however, suggest a different mechanism. H2 is detected at the tip of the VLA 1 jet, where the knot morphology suggests the presence of a second bow shock. H2 is detected also SE of HH 2E and SW of HH 1F, in regions with known NH3 emission.

  1. A New Look at Stellar Outflows: Spitzer Observations of the HH 46/47 System

    Science.gov (United States)

    Noriega-Crespo, Alberto; Morris, Patrick; Marleau, Francine R.; Carey, Sean; Boogert, Adwin; van Dishoeck, Ewine; Evans, Neal J., II; Keene, Jocelyn; Muzerolle, James; Stapelfeldt, Karl; hide

    2004-01-01

    We present the Early Release Observations of the HH 46/47 system and HH 46 IRS 1 source, taken with the three instruments aboard the Spitzer Space Telescope. The optically invisible southwest lobe, driven by the HH 47C bow shock, is revealed in full detail by the Infrared Array Camera (IRAC) images and displays a 'loop'-like morphology. Both of the mid-infrared outflow lobes are narrower than those of CO flow. We believe that the combination of emission by H2 rotational lines [S(11)-S(4)] and some atomic lines, which fall within the IRAC passbands, are responsible for the bulk of the observed emission, although contributions from the 3.3, 6.2, and 7.7 micron polycyclic aromatic hydrocarbon emission bands cannot be ruled out. Weak spectral features corresponding to these emitters are present in the Infrared Spectrograph spectrum of the HH 47A bow shock. The spectrum of HH 46 IRS 1 shows remarkable similarities to those of high-mass protostars, which include the presence of H2O, CO2, CH4, and possibly NH3, CH3OH, and ices. The high ice abundances and the lack of signs of thermal processing indicate that these ices in the envelope are well shielded from the powerful outflow and its cavity. Emission from the Bok globule at 24 micron is detected and displays a similar structure to that observed at 8 micron.

  2. Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype.

    Directory of Open Access Journals (Sweden)

    Shoko Onodera

    Full Text Available Gorlin syndrome is a genetic disorder of autosomal dominant inheritance that predisposes the affected individual to a variety of disorders that are attributed largely to heterozygous germline patched1 (PTCH1 mutations. PTCH1 is a hedgehog (Hh receptor as well as a repressor, mutation of which leads to constitutive activation of Hh pathway. Hh pathway encompasses a wide variety of cellular signaling cascades, which involve several molecules; however, no associated genotype-phenotype correlations have been reported. Recently, mutations in Suppressor of fused homolog (SUFU or PTCH2 were reported in patients with Gorlin syndrome. These facts suggest that multi-layered mutations in Hh pathway may contribute to the development of Gorlin syndrome. We demonstrated multiple mutations of Hh-related genes in addition to PTCH1, which possibly act in an additive or multiplicative manner and lead to Gorlin syndrome. High-throughput sequencing was performed to analyze exome sequences in four unrelated Gorlin syndrome patient genomes. Mutations in PTCH1 gene were detected in all four patients. Specific nucleotide variations or frameshift variations of PTCH1 were identified along with the inferred amino acid changes in all patients. We further filtered 84 different genes which are closely related to Hh signaling. Fifty three of these had enough coverage of over ×30. The sequencing results were filtered and compared to reduce the number of sequence variants identified in each of the affected individuals. We discovered three genes, PTCH2, BOC, and WNT9b, with mutations with a predicted functional impact assessed by MutationTaster2 or PolyPhen-2 (Polymorphism Phenotyping v2 analysis. It is noticeable that PTCH2 and BOC are Hh receptor molecules. No significant mutations were observed in SUFU. Multi-layered mutations in Hh pathway may change the activation level of the Hh signals, which may explain the wide phenotypic variability of Gorlin syndrome.

  3. 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.

  4. Cross-talk studies between FCC-hh Experimental Interaction Regions

    CERN Document Server

    AUTHOR|(CDS)2081283; Seryi, Andrei; Appleby, Robert Barrie; Rafique, Haroon; Besana, Maria Ilaria

    2017-01-01

    Debris from 50 TeV proton-proton collisions at the main interaction point in the FCC-hh may contribute to the background in the subsequent detector. This cross-talk is of possible concern for the FCC-hh due to the high luminosity and energy of the collider. DPMJET-III is used as a collision debris generator in order to assess the muon cross-talk contribution. An analytical calculation of muon range in rock is performed. This is followed by a full Monte Carlo simulation using FLUKA, where the accelerator tunnel has been modelled. The muon cross talk between the adjacent interaction points is assessed and its implications for FCC-hh design are discussed.

  5. First Design of a Proton Collimation System for 50 TeV FCC-hh

    CERN Document Server

    Fiascaris, Maria; Mirarchi, Daniele; Redaelli, Stefano

    2016-01-01

    We present studies aimed at defining a first conceptual solution for a collimation system for the hadron-hadron option for the Future Circular Collider (FCC-hh). The baseline collimation layout is based on the scaling of the present LHC collimation system to the FCC-hh energy. It currently includes a dedicated betatron cleaning insertion as well as collimators in the experimental insertions to protect the inner triplets. An aperture model for the FCC-hh is defined and the geometrical acceptance is calculated at top energy taking into account mechanical and optics imperfections. Based on these studies the collimator settings needed to protect the machine are defined. The performance of the collimation system is then assessed with particle tracking simulation tools assuming a perfect machine.

  6. Zebrafish Ext2 is necessary for Fgf and Wnt signaling, but not for Hh signaling.

    Science.gov (United States)

    Fischer, Sabine; Filipek-Gorniok, Beata; Ledin, Johan

    2011-09-05

    Heparan sulfate (HS) biosynthesis is tightly regulated during vertebrate embryo development. However, potential roles for HS biosynthesis in regulating the function of paracrine signaling molecules that bind to HS are incompletely understood. In this report we have studied Fgf, Wnt and Hedgehog (Hh) signaling in ext2 mutants, where heparan sulfate content is low. We found that Fgf targeted gene expression is reduced in ext2 mutants and that the remaining expression is readily inhibited by SU5402, an FGF receptor inhibitor. In the ext2 mutants, Fgf signaling is shown to be affected during nervous system development and reduction of Fgf ligands in the mutants affects tail development. Also, Wnt signaling is affected in the ext2 mutants, as shown by a stronger phenotype in ext2 mutants injected with morpholinos that partially block translation of Wnt11 or Wnt5b, compared to injected wild type embryos. In contrast, Hh dependent signaling is apparently unaffected in the ext2 mutants; Hh targeted gene expression is not reduced, the Hh inhibitor cyclopamine is not more affective in the mutants and Hh dependent cell differentiation in the retina and in the myotome are normal in ext2 mutants. In addition, no genetic interaction between ext2 and shha during development could be detected. We conclude that ext2 is involved in Fgf and Wnt signaling but not in Hh signaling, revealing an unexpected specificity for ext2 in signaling pathways during embryonic development. Thus, our results support the hypothesis that regulation of heparan sulfate biosynthesis has distinct instructive functions for different signaling factors.

  7. Updates on the optics of the future hadron-hadron collider FCC-hh

    CERN Document Server

    AUTHOR|(CDS)2093721; Boutin, David Jean Henri; Dalena, Barbara; Holzer, Bernhard; Langner, Andy Sven; Schulte, Daniel

    2017-01-01

    The FCC-hh (Future Hadron-Hadron Circular Collider) is one of the three options considered for the next generation accelerator in high-energy physics as recommended by the European Strategy Group. The layout of FCC-hh has been optimized to a more compact design following recommendations from civil engineering aspects. The updates on the first order and second order optics of the ring will be shown for collisions at the required centre-of-mass energy of 100 TeV. Special emphasis is put on the dispersion suppressors and general beam cleaning sections as well as first considerations of injection and extraction sections.

  8. Altered Nuclear Functions in Progeroid Syndromes: a Paradigm for Aging Research

    Directory of Open Access Journals (Sweden)

    Baomin Li

    2009-01-01

    Full Text Available Syndromes of accelerated aging could provide an entry point for identifying and dissecting the cellular pathways that are involved in the development of age-related pathologies in the general population. However, their usefulness for aging research has been controversial, as it has been argued that these diseases do not faithfully reflect the process of natural aging. Here we review recent findings on the molecular basis of two progeroid diseases, Werner syndrome (WS and Hutchinson-Gilford progeria syndrome (HGPS, and highlight functional connections to cellular processes that may contribute to normal aging.

  9. A dynamic Gli code interprets Hh signals to regulate induction, patterning, and endocrine cell specification in the zebrafish pituitary.

    Science.gov (United States)

    Devine, Christine A; Sbrogna, Jennifer L; Guner, Burcu; Osgood, Marcey; Shen, Meng-Chieh; Karlstrom, Rolf O

    2009-02-01

    Hedgehog (Hh) signaling is necessary for the induction and functional patterning of the pituitary placode, however the mechanisms by which Hh signals are interpreted by placodal cells are unknown. Here we show distinct temporal requirements for Hh signaling in endocrine cell differentiation and describe a dynamic Gli transcriptional response code that interprets these Hh signals within the developing adenohypophysis. Gli1 is required for the differentiation of selected endocrine cell types and acts as the major activator of Hh-mediated pituitary induction, while Gli2a and Gli2b contribute more minor activator functions. Intriguingly, this Gli response code changes as development proceeds. Gli1 continues to be required for the activation of the Hh response anteriorly in the pars distalis. In contrast, Gli2b is required to repress Hh target gene expression posteriorly in the pars intermedia. Consistent with these changing roles, gli1, gli2a, and gli2b, but not gli3, are expressed in pituitary precursor cells at the anterior neural ridge. Later in development, gli1 expression is maintained throughout the adenohypophysis while gli2a and gli2b expression are restricted to the pars intermedia. Given the link between Hh signaling and pituitary adenomas in humans, our data suggest misregulation of Gli function may contribute to these common pituitary tumors.

  10. Human carcinoma-associated mesenchymal stem cells promote ovarian cancer chemotherapy resistance via a BMP4/HH signaling loop.

    Science.gov (United States)

    Coffman, Lan G; Choi, Yun-Jung; McLean, Karen; Allen, Benjamin L; di Magliano, Marina Pasca; Buckanovich, Ronald J

    2016-02-09

    The tumor microenvironment is critical to cancer growth and therapy resistance. We previously characterized human ovarian carcinoma-associated mesenchymal stem cells (CA-MSCs). CA-MSCs are multi-potent cells that can differentiate into tumor microenvironment components including fibroblasts, myofibroblasts and adipocytes. We previously reported CA-MSCs, compared to normal MSCs, express high levels of BMP proteins and promote tumor growth by increasing numbers of cancer stem-like cells (CSCs). We demonstrate here that ovarian tumor cell-secreted Hedgehog (HH) induces CA-MSC BMP4 expression. CA-MSC-derived BMP4 reciprocally increases ovarian tumor cell HH expression indicating a positive feedback loop. Interruption of this loop with a HH pathway inhibitor or BMP4 blocking antibody decreases CA-MSC-derived BMP4 and tumor-derived HH preventing enrichment of CSCs and reversing chemotherapy resistance. The impact of HH inhibition was only seen in CA-MSC-containing tumors, indicating the importance of a humanized stroma. These results are reciprocal to findings in pancreatic and bladder cancer, suggesting HH signaling effects are tumor tissue specific warranting careful investigation in each tumor type. Collectively, we define a critical positive feedback loop between CA-MSC-derived BMP4 and ovarian tumor cell-secreted HH and present evidence for the further investigation of HH as a clinical target in ovarian cancer.

  11. Hyperactivation of BDNF-TrkB signaling cascades in human hypothalamic hamartoma (HH): a potential mechanism contributing to epileptogenesis.

    Science.gov (United States)

    Semaan, Suzan; Wu, Jie; Gan, Yan; Jin, Yu; Li, Guo-Hui; Kerrigan, John F; Chang, Yong-Chang; Huang, Yao

    2015-02-01

    Although compelling evidence suggests that human hypothalamic hamartoma (HH) is intrinsically epileptogenic for gelastic seizures, the molecular mechanisms responsible for epileptogenesis within HH remain to be elucidated. The aim of this study was to test the hypothesis that hyperactivation of BDNF-TrkB signaling pathways in surgically resected HH tissue is a possible mechanism for downregulation of KCC2 expression, which in turn underlies GABA-mediated excitation within HH. Activation of three major BDNF-TrkB signaling pathways including MAPKs, Akt, and PLCγ1 were evaluated in surgically resected HH tissue (n = 14) versus human hypothalamic control tissue (n = 8) using combined methodologies of biochemistry, molecular biology, cell biology, and electrophysiology. Our data show that compared with hypothalamic control tissue, in HH tissue, (i) activation of TrkB and expression of mature BDNF are elevated; (ii) MAPKs (including ERK1/2, p38, and JNK), Akt, and PLCγ1 are highly activated; (iii) KCC2 expression is downregulated; and (iv) pharmacological manipulation of TrkB signaling alters HH neuronal firing rate. Our findings suggest that multiple BDNF-TrkB signaling pathways are activated in HH. They act independently or collaboratively to downregulate KCC2 expression, which is the key component for GABA-mediated excitation associated with gelastic seizures. © 2014 John Wiley & Sons Ltd.

  12. Hyper-reactive PMNs in Fc gamma RIIa 131 H/H genotype periodontitis patients

    NARCIS (Netherlands)

    Nicu, E A; Van der Velden, U; Everts, V; Van Winkelhoff, A J; Roos, D; Loos, B G

    2007-01-01

    Background: Receptors for the Fc part of IgG (Fc gamma RIIa) on polymorphonuclear leukocytes (PMN) mediate phagocytosis and cell activation. Previous results show that one of the genetic variants of the Fc gamma RIIa, the 131 H/H, is associated with more periodontal breakdown than the R/R. This may

  13. $hh+\\text{jet}$ production at 100 TeV arXiv

    CERN Document Server

    Banerjee, Shankha; Mangano, Michelangelo L.; Selvaggi, Michele; Spannowsky, Michael

    Higgs pair production is a crucial phenomenological process in deciphering the nature of the TeV scale and the mechanism underlying electroweak symmetry breaking. At the Large Hadron Collider, this process is statistically limited. Pushing the energy frontier beyond the LHC's reach will create new opportunities to exploit the rich phenomenology at higher centre-of-mass energies and luminosities. In this work, we perform a comparative analysis of the $hh+\\text{jet}$ channel at a future 100 TeV hadron collider. We focus on the $hh\\to b\\bar b b\\bar b$ and $hh \\to b\\bar b \\tau^+\\tau^-$ channels and employ a range of analysis techniques to estimate the sensitivity potential that can be gained by including this jet-associated Higgs pair production to the list of sensitive collider processes in such an environment. In particular, we observe that $hh \\to b\\bar b \\tau^+\\tau^-$ in the boosted regime exhibits a large sensitivity to the Higgs boson self-coupling and the Higgs self-coupling could be constrained at the 8\\%...

  14. Spitzer spectral line mapping of the HH211 outflow

    DEFF Research Database (Denmark)

    Dionatos, Odyssefs; Nisini, Brunella; Cabrit, Sylvie

    2010-01-01

    Aims: We employ archival Spitzer slit-scan observations of the HH211 outflow in order to investigate its warm gas content, assess the jet mass flux in the form of H2 and probe for the existence of an embedded atomic jet. Methods: Detected molecular and atomic lines are interpreted by means of emi...

  15. 76 FR 66855 - United States Savings Bonds, Series EE, HH and I

    Science.gov (United States)

    2011-10-28

    ... Fiscal Service 31 CFR Parts 351, 353, 359, and 360 United States Savings Bonds, Series EE, HH and I... be able to obtain paper Series I savings bonds with their tax refunds through Internal Revenue.... 0 7. Revise Sec. 351.46 to read as follows: Sec. 351.46 May I purchase definitive Series EE savings...

  16. WFPC2 Studies of the Disk and Jet of HH 30

    Science.gov (United States)

    Watson, A.; Stapelfeldt, K.

    1996-01-01

    Hubble Space Telescope imaging of HH 30 has revealed this object to be a prototype young stellar object (YSO) accretion disk system. An optically thick circumstellar absorption disk, 450 AU in diameter, is seen extending perpendicular to highly collimated bipolar jets.

  17. Hh signaling inhibitors from Vitex negundo; naturally occurring inhibitors of the GLI1-DNA complex.

    Science.gov (United States)

    Arai, Midori A; Fujimatsu, Teruhisa; Uchida, Kyoko; Sadhu, Samir K; Ahmed, Firoj; Ishibashi, Masami

    2013-05-01

    The hedgehog (Hh) signaling pathway has crucial roles in embryonic development, cell maintenance and proliferation, and is also known to contribute to cancer cell growth. New naturally occurring Hh inhibitors (1, 7 and 9) were isolated from Vitex negundo using our previously constructed cell-based assay. Bioactivity guided isolation provided 9 natural compounds including a new diterpene, nishindanol (9). Compounds 7 and 9 showed cytotoxicity against cancer cell lines in which Hh signaling was aberrantly activated. Vitetrifolin D (7; GLI1 transcriptional inhibition IC50 = 20.2 μM) showed inhibition of Hh related protein (PTCH and BCL2) production. Interestingly, the constructed electrophoresis mobility shift assay revealed that vitetrifolin D (7) disrupted GLI1 binding on its DNA binding domain. epi-Sclareol (8; inactive), possessing a similar structure to 7, did not show inhibition of GLI1–DNA complex formation. This is the first example of naturally occurring inhibitors of GLI1–DNA complex formation.

  18. Itinerant Deaf Educator and General Educator Perceptions of the D/HH Push-in Model

    Science.gov (United States)

    Rabinsky, Rebecca J.

    2013-01-01

    A qualitative case study using the deaf and hard of hearing (D/HH) push-in model was conducted on the perceptions of 3 itinerant deaf educators and 3 general educators working in 1 school district. Participants worked in pairs of 1 deaf educator and 1 general educator at 3 elementary schools. Open-ended research questions guided the study, which…

  19. Evaluating the Effects of Function-Based Interventions with D/HH Students

    Science.gov (United States)

    Gann, Candace J.

    2014-01-01

    This study examined the effectiveness of function-based interventions applied within a school for the deaf. The participants were elementary-aged males diagnosed as deaf or hard of hearing (D/HH) who exhibited chronic off-task behaviors throughout the school day. This study was conducted across two phases: (a) a descriptive functional behavior…

  20. Data of evolutionary structure change: 1JHKH-2V7HH [Confc[Archive

    Lifescience Database Archive (English)

    Full Text Available equence>AFSLE---TTAYL e>EEE --- EEE> H 2V7HH TFTADTSSNTAYM ...>EEEEE EEEEE> ATOM 5465 CA THR H 69 25.885 18.472 40.39...dbChain> 1JHKH GNSAY---WGQGT > EEE--- E...entryIDChain> YWAYDFDYWGQGT > EE E

  1. Overview of design development of FCC-hh Experimental Interaction Regions

    CERN Document Server

    AUTHOR|(CDS)2082479; Abelleira, Jose; Cruz Alaniz, Emilia; Van Riesen-Haupt, Leon; Benedikt, Michael; Besana, Maria Ilaria; Buffat, Xavier; Burkhardt, Helmut; Cerutti, Francesco; Langner, Andy Sven; Martin, Roman; Riegler, Werner; Schulte, Daniel; Tomas Garcia, Rogelio; Appleby, Robert Barrie; Rafique, Haroon; Barranco Garcia, Javier; Pieloni, Tatiana; Boscolo, Manuela; Collamati, Francesco; Nevay, Laurence James; Hofer, Michael

    2017-01-01

    The experimental interaction region (EIR) is one of the key areas that define the performance of the Future Circular Collider. In this overview we will describe the status and the evolution of the design of EIR of FCC-hh, focusing on design of the optics, energy deposition in EIR elements, beam-beam effects and machine detector interface issues.

  2. De gong en de rookberg : intrigerende materie van H.H. ter Balkt en Jacques Hamelink

    NARCIS (Netherlands)

    Gerbrandy, Pieter Sjoerd

    2009-01-01

    H.H. ter Balkt (born 1938) and Jacques Hamelink (born 1939) both have reputations, in literary circles, for writing poetry that is fascinating but quite complex. This perceived difficulty stems at least partially from the inclusion of numerous references to literary and historiographical texts, as

  3. Establishment and characterization of a human primary prostate carcinoma cell line, HH870.

    Science.gov (United States)

    Selvan, Senthamil R; Cornforth, Andrew N; Rao, Nagesh P; Reid, Yvonne A; Schiltz, Patric M; Liao, Ray P; Price, David T; Heinemann, F Scott; Dillman, Robert O

    2005-04-01

    Development of new therapeutic modalities for human prostate carcinoma has been impeded by a lack of adequate in vitro and in vivo models. Most in vitro studies have been carried out using a limited number of human prostate cancer cell lines that are mostly derived from metastatic tumors sites or are immortalized. Characterization of the prostate cancer cell line, HH870, included description of morphology, determination of doubling time, response to androgens, immunocytochemistry, and immunoblotting of proteins known to be associated with prostate carcinoma, karyotyping, fluorescence in situ hybridization (FISH), DNA profiling, and growth as xenograft in athymic rodents. HH870 expresses various epithelial marker antigens that correlate with known basic immunostaining profiles of prostate adenocarcinoma, although the cell line does not express PSA, PSMA, or PAP. HH870 exhibits complex chromosomal abnormalities and harbors no immortalizing HPV, BKV, JCV, and SV40 DNA. We report the successful establishment and characterization of a new long-term primary human prostate tumor cell line HH870. Copyright (c) 2004 Wiley-Liss, Inc.

  4. Crustacean hyperglycemic hormone (cHH as a modulator of aggression in crustacean decapods.

    Directory of Open Access Journals (Sweden)

    Laura Aquiloni

    Full Text Available Biogenic amines, particularly serotonin, are recognised to play an important role in controlling the aggression of invertebrates, whereas the effect of neurohormones is still underexplored. The crustacean Hyperglycemic Hormone (cHH is a multifunctional member of the eyestalk neuropeptide family. We expect that this neuropeptide influences aggression either directly, by controlling its expression, or indirectly, by mobilizing the energetic stores needed for the increased activity of an animal. Our study aims at testing such an influence and the possible reversion of hierarchies in the red swamp crayfish, Procambarus clarkii, as a model organism. Three types of pairs of similarly sized males were formed: (1 'control pairs' (CP, n = 8: both individuals were injected with a phosphate saline solution (PBS; (2 'reinforced pairs' (RP, n = 9: the alpha alone was injected with native cHH, and the beta with PBS; (3 'inverted pairs' (IP, n = 9: the opposite of (2. We found that, independently of the crayfish's prior social experience, cHH injections induced (i the expression of dominance behaviour, (ii higher glycemic levels, and (iii lower time spent motionless. In CP and RP, fight intensity decreased with the establishment of dominance. On the contrary, in IP, betas became increasingly likely to initiate and escalate fights and, consequently, increased their dominance till a temporary reversal of the hierarchy. Our results demonstrate, for the first time, that, similarly to serotonin, cHH enhances individual aggression, up to reverse, although transitorily, the hierarchical rank. New research perspectives are thus opened in our intriguing effort of understanding the role of cHH in the modulation of agonistic behaviour in crustaceans.

  5. The epidemiology of premature aging and associated comorbidities

    National Research Council Canada - National Science Library

    Coppedè, Fabio

    2013-01-01

    Hutchinson-Gilford Progeria Syndrome and Werner syndrome, also known as childhood- and adulthood-progeria, respectively, represent two of the best characterized human progeroid diseases with clinical...

  6. From the rarest to the most common: insights from progeroid syndromes into skin cancer and aging.

    Science.gov (United States)

    Capell, Brian C; Tlougan, Brook E; Orlow, Seth J

    2009-10-01

    Despite their rarity, diseases of premature aging, or "progeroid" syndromes, have provided important insights into basic mechanisms that may underlie cancer and normal aging. In this review, we highlight these recent developments in Hutchinson-Gilford progeria syndrome (HGPS), Werner syndrome, Bloom syndrome, Cockayne syndrome, trichothiodystrophy, ataxia-telangiectasia, Rothmund-Thomson syndrome, and xeroderma pigmentosum. Though they are caused by different mutations in various genes and often result in quite disparate phenotypes, deciphering the molecular bases of these conditions has served to highlight their underlying basic similarities. Studies of progeroid syndromes, particularly HGPS, the most dramatic form of premature aging, have contributed to our knowledge of fundamental processes of importance to skin biology, including DNA transcription, replication, and repair, genome instability, cellular senescence, and stem-cell differentiation.

  7. Anosmia Predicts Hypogonadotropic Hypogonadism in CHARGE Syndrome

    NARCIS (Netherlands)

    Bergman, Jorieke E. H.; Bocca, Gianni; Hoefsloot, Lies H.; Meiners, Linda C.; van Ravenswaaij-Arts, Conny M. A.

    Objective To test the hypothesis that a smell test could predict the occurrence of hypogonadotropic hypogonadism (HH) in patients with CHARGE syndrome, which is a variable combination of ocular coloboma, heart defects, choanal atresia, retardation of growth/development, genital hypoplasia, and ear

  8. Luminous Herbig-Haro objects from a massive protostar: The unique case of HH 80/81

    Science.gov (United States)

    Reipurth, Bo

    2017-08-01

    Herbig-Haro (HH) objects are the optical manifestations of shock waves excited by outflows from young stars. They represent one of the few classes of spatially extended astronomical objects where both structural changes and proper motions can be measured on time scales of years to decades. HH 80/81 is a pair of HH objects in Sagittarius which are the intrinsically most luminous HH objects known. The driving source of HH 80/81 is the embedded star IRAS 18162-2048, which has a luminosity of 20,000 Lsun and excites a compact HII region, suggesting that it is a newborn massive star. HH objects associated with massive young stars are very rare, only a handful of cases are known, but what makes the HH 80/81 source unique among massive protostars is that it produces a finely collimated bipolar radio jet with extremely high velocity and pointing straight to HH 80/81. We propose to observe the HH 80/81 complex with WFC3 and the following four filters: Halpha 6563, Hbeta 4861, [SII] 6717/31, and [OIII] 5007. First epoch HST images were obtained 22 years ago, which now allows a very precise determination of proper motions. Groundbased optical and radio proper motions are not only uncertain, but actually contradict each other, a controversy that will be resolved by HST. The fine resolution of WFC3 allows a study of both fine structural details and structural changes of the shocks. Finally we will use a sophisticated adaptive grid code to interpret the (de-reddened) line ratios across the shocks.

  9. AIRBORNE X-HH INCIDENCE ANGLE IMPACT ON CANOPY HEIGHT RETREIVAL: IMPLICATIONS FOR SPACEBORNE X-HH TANDEM-X GLOBAL CANOPY HEIGHT MODEL

    Directory of Open Access Journals (Sweden)

    M. L. Tighe

    2012-07-01

    Full Text Available To support international climate change mitigation efforts, the United Nations REDD+ initiative (Reducing Emissions from Deforestation and Degradation seeks to reduce land use induced greenhouse gas emissions to the atmosphere. It requires independent monitoring of forest cover and forest biomass information in a spatially explicit form. It is widely recognised that remote sensing is required to deliver this information. Synthetic Aperture Radar interferometry (InSAR techniques have gained traction in the last decade as a viable technology from which vegetation canopy height and bare earth elevations can be derived. The viewing geometry of a SAR sensor is side-looking where the radar pulse is transmitted out to one side of the aircraft or satellite, defining an incidence angle (θ range. The incidence angle will change from near-range (NR to far-range (FR across of the track of the SAR platform. InSAR uses image pairs and thus, contain two set of incidence angles. Changes in the InSAR incidence angles can alter the relative contributions from the vegetation canopy and the ground surface and thus, affect the retrieved vegetation canopy height. Incidence angle change is less pronounced in spaceborne data than in airborne data and mitigated somewhat when multiple InSAR-data takes are combined. This study uses NEXTMap® single- and multi-pass X-band HH polarized InSAR to derive vegetation canopy height from the scattering phase centre height (hspc. Comparisons with in situ vegetation canopy height over three test sites (Arizona-1, Minnesota-2; the effect of incidence angle changes across swath on the X-HH InSAR hspc was examined. Results indicate at steep incidence angles (θ = 35º, more exposure of lower vegetation canopy structure (e.g. tree trunks led to greater lower canopy double bounce, increased ground scattering, and decreased volume scattering. This resulted in a lower scattering phase centre height (hspc or a greater underestimation of

  10. An adult case of Cockayne syndrome without sclerotic angiopathy.

    Science.gov (United States)

    Inoue, T; Sano, N; Ito, Y; Matsuzaki, Y; Okauchi, Y; Kondo, H; Horiuchi, N; Nakao, K; Iwata, M

    1997-08-01

    We report an autopsy case of Cockayne syndrome (CS). A 40-year-old Japanese woman was admitted to our hospital for cachexia. She had displayed the striking features of CS, including dwarfism, mental retardation, neural deafness, ataxia, intracranial calcifications, and progeria since her childhood. Endocrinological examinations suggested normal pituitary function and a disorder of the hypothalamus or the cerebrum. She died of acute pneumonia at the age of 42. Autopsy findings showed typical abnormalities in the central nervous system compatible with CS; however, no atherosclerotic change was observed in the systemic arteries.

  11. Ultraboosted Zt and γ t production at the HL-LHC and FCC-hh

    Science.gov (United States)

    Aguilar-Saavedra, J. A.

    2017-11-01

    Searches for anomalous Zt and γ t production provide an excellent probe of flavour-changing top interactions when the energies considered are very large. In this note we estimate the sensitivity to these interactions at the high-luminosity phase of the LHC and a future 100 TeV pp collider (FCC-hh). For the LHC, the expected limits on t → uZ / uγ branching ratios from Zt and γ t production will reach the 10^{-5} level, one order of magnitude better than the existing projections for t → uZ from t {\\bar{t}} production. For the FCC-hh, the limits on t → uZ / uγ could reach an impressive sensitivity at the 10^{-6} level, with limits on t → cZ / cγ at the 10^{-5} level.

  12. Infrared observations of low-mass star formation in Orion - HH objects

    Science.gov (United States)

    Harvey, P. M.; Wilking, B. A.; Cohen, M.

    1982-01-01

    The results of a preliminary analysis of IR data on Herbig-Haro objects in the Orion nebula are reported. The observations were made with the high angular resolution IR photometry equipment on the NASA Kuiper Airborne Observatory and the NASA facility on Mauna Kea, HI. Data were taken in the 1-200 microns region with 40, 6, and 8 arcsec resolution. Attention was focused on NGC 1999 (HH1-3) and M78 (HH24-25) and the determination of absolute luminosities of the exciting stars. Measurements were also made of the IR energy distribution in the thermally emitting dust clouds and the point sources. Herbig-Haro objects featured compact and far IR sizes and large visual extinction, in addition to a steeply rising energy distribution up to 50-100 microns, where the luminosity emitted was concentrated.

  13. Observations of entrainment and time variability in the HH 47 jet

    Science.gov (United States)

    Hartigan, Patrick; Morse, Jon A.; Heathcote, Steve; Cecil, Gerald

    1993-01-01

    We present new Fabry-Perot images of the HH 47 jet that show the first clear evidence for entrainment in a jet from a young star. The material in the jet moves faster down the axis of the flow and slower at the edges, similar to viscous flow in a pipe. The higher excitation lines occur along the edges of the jet, as expected if entrainment accelerates and heats the ambient material. We confirm previous observations of multiple bow shocks in this system. Together, time variability and entrainment produce much of the observed shock-excited gas in this object. Our data show that the 'wiggles' along the jet are not caused by jet material tied to a spiraling magnetic field, but instead result from time variability, variable ejection angles, or inhomogeneities in the flow. The gas entrained in the HH 47 jet may be atomic; our results do not provide direct evidence that stellar jets drive molecular outflows.

  14. Di-Higgs phenomenology in tt¯hh: The forgotten channel

    Directory of Open Access Journals (Sweden)

    Christoph Englert

    2015-04-01

    Full Text Available Searches for multi-Higgs final states allow to constrain parameters of the SM (or extensions thereof that directly relate to the mechanism of electroweak symmetry breaking. Multi-Higgs production cross sections, however, are small and the phenomenologically accessible final states are challenging to isolate in the busy multi-jet hadron collider environment of the LHC run 2 and HL-LHC. This makes the necessity to extend the list of potentially observable production mechanisms obvious. Most of the phenomenological analyses in the past have focused on gg→hh+jets; in this paper we study pp→tt¯hh at the HL-LHC and find that this channel for h→bb¯ and semi-leptonic and hadronic top decays has the potential to provide an additional handle to constrain the Higgs trilinear coupling in a global fit at the end of the high luminosity phase.

  15. Main changes to LHC layout for reuse as FCC-hh High Energy Booster

    CERN Document Server

    AUTHOR|(SzGeCERN)396044; Wolfgang Bartmann; Werner Herr; Philippe Lebrun; Attilio Milanese

    2015-01-01

    Reuse of the LHC is one option being investigated for a High Energy Booster for injection of 3.3 TeV protons (and heavy ions at equivalent rigidity) into the proposed 100 TeV centre of mass FCC-hh collider. In this note the major changes required to the LHC layout are listed, assuming beam transfer to the FCC collider is required from both LHC Points 1 and 8.

  16. Epicardial regeneration is guided by cardiac outflow tract and Hh signaling

    Science.gov (United States)

    Dickson, Amy L.; Poss, Kenneth D.

    2015-01-01

    In response to cardiac damage, a mesothelial tissue layer enveloping the heart called the epicardium is activated to proliferate and accumulate at the injury site. Recent studies have implicated the epicardium in multiple aspects of cardiac repair: a source of paracrine signals for cardiomyocyte survival or proliferation; a supply of perivascular cells and possibly other cell types like cardiomyocytes; and, a mediator of inflammation1-9. Yet, the biology and dynamism of the adult epicardium is poorly understood. Here, we created a transgenic line to ablate this cell population in adult zebrafish. We find that genetic depletion of epicardium after myocardial loss inhibits cardiomyocyte proliferation and delays muscle regeneration. The epicardium vigorously regenerates after its ablation, through proliferation and migration of spared epicardial cells as a sheet to cover the exposed ventricular surface in a wave from the chamber base toward its apex. By reconstituting epicardial regeneration ex vivo, we show that extirpation of the bulbous arteriosus (BA), a distinct, smooth muscle-rich tissue structure that distributes outflow from the ventricle, prevents epicardial regeneration. Conversely, experimental repositioning of the BA by tissue recombination initiates epicardial regeneration and can govern its direction. Hedgehog (Hh) ligand is expressed in the BA, and treatment with Hh signaling antagonist arrests epicardial regeneration and blunts the epicardial response to muscle injury. Transplantation of Shh-soaked beads at the ventricular base stimulates epicardial regeneration after BA removal, indicating that Hh signaling can substitute for the BA influence. Thus, the ventricular epicardium has pronounced regenerative capacity, regulated by the neighboring cardiac outflow tract and Hh signaling. These findings extend our understanding of tissue interactions during regeneration and have implications for mobilizing epicardial cells for therapeutic heart repair. PMID

  17. Analytical parametrization and shape classification of anomalous HH production in the EFT approach

    CERN Document Server

    Carvalho, Alexandra; Manzano, Pablo de Castro; Dorigo, Tommaso; Goertz, Florian; Gouzevich, Maxime; Tosi, Mia

    2016-01-01

    In this document we study the effect of anomalous Higgs boson couplings on non-resonant pair production of Higgs bosons ($HH$) at the LHC. We explore the space of the five parameters $\\kappa_{\\lambda}$, $\\kappa_{t}$, $c_2$, $c_g$, and $c_{2g}$ in terms of the corresponding kinematics of the final state, and describe a partition of the space into a limited number of regions featuring similar phenomenology in the kinematics of $HH$ final state. We call clusters the sets of points belonging to the same region; to each cluster corresponds a representative point which we call a benchmark. We discuss a possible technique to estimate the sensitivity of an experimental search to the kinematical differences between the phenomenology of the benchmark points and the rest of the parameter space contained in the corresponding cluster. We also provide an analytical parametrization of the cross-section modifications that the variation of anomalous couplings produces with respect to standard model $HH$ production along with ...

  18. FLIP-FLOP ACTIVITY ON THE W UMa-TYPE BINARY SYSTEM HH UMa

    Energy Technology Data Exchange (ETDEWEB)

    Wang, Kun; Zhang, Xiaobin; Deng, Licai; Luo, Changqing; Luo, Yangping [Key Laboratory of Optical Astronomy, National Astronomical Observatories, Chinese Academy of Sciences, Beijing 100012 (China); Zhang, Jun, E-mail: kwang@bao.ac.cn [Key Laboratory of Solar Activity, National Astronomical Observatories, Chinese Academy of Sciences, Beijing 100012 (China)

    2015-05-20

    We report the discovery of flip-flop activity in a W UMa-type binary. A long-term multi-color photometric surveillance of HH UMa was carried out with three sets of light curves obtained over six weeks. The light curves of the eclipsing binary presented marked asymmetry and rapid interchange between the two light maxima. During the observations from 2014 February to 2014 April, the spot distortion phase jumped between phases 0.25 and 0.75 twice, a typical indication of flip-flop activity. We applied the Wilson–Devinney method to analyze the three light curves. The results indicate that HH UMa is a partially eclipsing contact system of A subtype with an obviously asymmetric light curve. The observed light curves can be modeled by assuming that there are two dark spots on the massive primary component that are almost persistently located around phases 0.25 and 0.75, but can interchange their intensities. We further suggest that a plausible scenario for explaining the properties of those dark spots is strong surface magnetic activity with a sudden reversal of the more active longitude. We therefore conclude that HH UMa is very likely a W UMa-type system displaying flip-flop activity.

  19. HH 588: A giant bipolar outflow in the dark cloud BRC 37

    Science.gov (United States)

    Movsessian, T. A.; Magakian, T. Yu.; Sargsyan, D. M.; Ogura, K.

    2012-12-01

    Results of 2D spectroscopy of the complex of Herbig-Haro objects HH 588 in the dark globule BRC 37 are presented. The multipupil spectrograph VAGR has been used to obtain spectra of four parts of this complex, including the objects NE2, NE1, center, and SW2. The kinematic characteristics of these components of the complex confirm the existence of a giant bipolar outflow from the central infrared source IRAS 21388+5622. Spectral studies also show that the central object has the very low excitation and strong [OI] and [SII] emission characteristic of jets emerging from young stellar objects. In terms of their physical parameters, the other objects are typical Herbig-Haro objects. On the other hand, it is found that the entire HH 588 complex is an irradiated Herbig-Haro flow. This is indicated by the comparatively high excitation of the object NE2, and by the fact that the entire HH 588 flow is an arc with its convex side facing the center of the HII region IC 1396.

  20. Hallmarks of progeroid syndromes: lessons from mice and reprogrammed cells

    Directory of Open Access Journals (Sweden)

    Dido Carrero

    2016-07-01

    Full Text Available Ageing is a process that inevitably affects most living organisms and involves the accumulation of macromolecular damage, genomic instability and loss of heterochromatin. Together, these alterations lead to a decline in stem cell function and to a reduced capability to regenerate tissue. In recent years, several genetic pathways and biochemical mechanisms that contribute to physiological ageing have been described, but further research is needed to better characterize this complex biological process. Because premature ageing (progeroid syndromes, including progeria, mimic many of the characteristics of human ageing, research into these conditions has proven to be very useful not only to identify the underlying causal mechanisms and identify treatments for these pathologies, but also for the study of physiological ageing. In this Review, we summarize the main cellular and animal models used in progeria research, with an emphasis on patient-derived induced pluripotent stem cell models, and define a series of molecular and cellular hallmarks that characterize progeroid syndromes and parallel physiological ageing. Finally, we describe the therapeutic strategies being investigated for the treatment of progeroid syndromes, and their main limitations.

  1. B-tagging studies in $HH \\rightarrow 4b$ analysis at $\\sqrt{s} = 8$ TeV

    CERN Document Server

    Karskens, Tijs

    2013-01-01

    We search for heavy resonances decaying into $HH \\rightarrow 4b$, resulting in a dijet topology. Subjet b-tagging is explored as background discriminator, and feasibility studies in background estimations are done using an ABCD method. We find that 3 and 4 subjet b-tags result in the most efficient categories. Using these categories, we construct a background estimation to be used in further analysis in $HH \\rightarrow 4b$ channel.

  2. Detailed optical study of HH 32 and the highly collimated outflow from the T Tauri star AS 353A

    Energy Technology Data Exchange (ETDEWEB)

    Hartigan, P.; Mundt, R.; Stocke, J.

    1986-06-01

    The T Tauri star AS 353A and its highly collimated bipolar outflow have been studied using medium- and high-resolution spectroscopy and deep emission-line CCD imagery. We report the discovery of a linear emission jet in the redshifted part of the flow, and present spectra of the HH objects (HH 32A--D) that confirm the bipolarity of the flow. Despite widely varying line profiles, all four HH objects have similar extremely broad emission linewidths and maximum radial velocities (approx.400 km/s) as well as nearly constant number density as a function of radial velocity. Three of the four objects (HH 32D is the possible exception) possess prominent double-peaked emission-line profiles, and in HH 32A and HH 32C the high-velocity component is situated closer to the star than the low-velocity component. The line profile of (O III) lambda5007 differs markedly from the profiles of lower-excitation lines for HH 32A. These characteristics are examined in the light of two physical models: HH objects as strongly radiating shocks in outflowing jets or as single bow shocks around dense clumps in the outflow. Both are successful in explaining the majority of characteristics observed, but both models encounter some difficulties. The stellar wind has been studied through examination of the star's emission and absorption lines, and we find that the wind is already accelerated to 300 km/s close to the star, and reaches a terminal velocity in excess of 350 km/s. The blueshifted component of the H..cap alpha.. profile of AS 353A is highly variable, and the profiles of different lines have quite dissimilar characteristics. The P Cygni line profiles are discussed briefly in terms of two wind models. There is evidence that the flow collimation occurs at distances greater than two stellar radii.

  3. The extracellular domain of Smoothened regulates ciliary localization and is required for high-level Hh signaling.

    Science.gov (United States)

    Aanstad, Pia; Santos, Nicole; Corbit, Kevin C; Scherz, Paul J; Trinh, Le A; Salvenmoser, Willi; Huisken, Jan; Reiter, Jeremy F; Stainier, Didier Y R

    2009-06-23

    Members of the Hedgehog (Hh) family of secreted proteins function as morphogens to pattern developing tissues and control cell proliferation. The seven-transmembrane domain (7TM) protein Smoothened (Smo) is essential for the activation of all levels of Hh signaling. However, the mechanisms by which Smo differentially activates low- or high-level Hh signaling are not known. Here we show that a newly identified mutation in the extracellular domain (ECD) of zebrafish Smo attenuates Smo signaling. The Smo agonist purmorphamine induces the stabilization, ciliary translocation, and high-level signaling of wild-type Smo. In contrast, purmorphamine induces the stabilization but not the ciliary translocation or high-level signaling of the Smo ECD mutant protein. Surprisingly, a truncated form of Smo that lacks the cysteine-rich domain of the ECD localizes to the cilium but is unable to activate high-level Hh signaling. We also present evidence that cilia may be required for Hh signaling in early zebrafish embryos. These data indicate that the ECD, previously thought to be dispensable for vertebrate Smo function, both regulates Smo ciliary localization and is essential for high-level Hh signaling.

  4. N (α)-Methylated phenylhistamines exhibit affinity to the hH(4)R-a pharmacological and molecular modelling study.

    Science.gov (United States)

    Wittmann, Hans-Joachim; Elz, Sigurd; Seifert, Roland; Straber, Andrea

    2011-09-01

    Histamine H(1)-receptor agonists and antagonists exhibit affinity to the human histamine H(4)-receptor (hH(4)R). However, the pharmacological profiles between hH(1)R and hH(4)R exhibit similarities and differences. Since suprahistaprodifen and trifluoromethylphenylhistamine show significant affinity to hH(4)R, the aim of this study was to analyse a large number of new phenylhistamines, histaprodifens and phenoprodifens at hH(4)R to extend the pharmacological profile of these compound classes at hH(4)R. The hH(4)R-RGS19 fusion protein was co-expressed with G(αi2) and G(β1γ2) in Sf9 insect cells, and [(3)H]histamine competition binding as well as GTPase assays were performed. Based on adequate crystal structures, homology models of hH(4)R were generated. Molecular modelling studies, including molecular dynamics and prediction of Gibbs energy of ligand binding, were performed in order to explain the pharmacological data at hH(4)R on molecular level. The exchange of the phenyl moiety of phenylhistamines into the diphenylpropyl moiety of histaprodifens acts, in contrast to hH(1)R, as partial agonism-inverse agonism switch at hH(4)R. Based on our studies, some phenylhistamine derivatives with significantly higher affinity at hH(4)R than at hH(1)R were identified. The molecular dynamic simulations revealed two different conformations for the highly conserved Trp(6.48), suggested to be involved in receptor activation. Furthermore, the predicted Gibbs energy of ligand binding for six selected phenylhistamines was in very good agreement with the experimentally determined affinities. We identified phenylhistamine derivatives with higher affinity at hH(4)R than at hH(1)R. Besides, we have identified partial agonism-inverse agonism switch between phenylhistamines and histaprodifens at hH(4)R. These results are very important to understand selectivity between hH(1)R and hH(4)R and to design new potent H(1)R and/or H(4)R receptor ligands.

  5. Small molecule modulation of HH-GLI signaling: current leads, trials and tribulations.

    Science.gov (United States)

    Mas, Christophe; Ruiz i Altaba, Ariel

    2010-09-01

    Many human sporadic cancers have been recently shown to require the activity of the Hedgehog-GLI pathway for sustained growth. The survival and expansion of cancer stem cells is also HH-GLI dependent. Here we review the advances on the modulation of HH-GLI signaling by small molecules. We focus on both natural compounds and synthetic molecules that target upstream pathway components, mostly SMOOTHENED, and those that target the last steps of the pathway, the GLI transcription factors. In this review we have sought to provide some bases for useful comparisons, listing original assays used and sources to facilitate comparisons of IC50 values. This area is a rapidly expanding field where biology, medicine and chemistry intersect, both in academia and industry. We also highlight current clinical trials, with positive results in early stages. While we have tried to be exhaustive regarding the molecules, not all data is in the public domain yet. Indeed, we have opted to avoid listing chemical structures but these can be easily found in the references given. Finally, we are hopeful that the best molecules will soon reach the patients but caution about the lack of investment on compounds that lack tight IP positions. While the market in developed nations is expected to compensate the investment and risk of making HH-GLI modulators, other sources or plans must be available for developing nations and poor patient populations. The promise of curing cancer recalls the once revered dream of El Dorado, which taught us that not everything that GLI-tters is gold. Copyright 2010 Elsevier Inc. All rights reserved.

  6. Exploring the triplet parameters space to optimise the final focus of the FCC-hh

    CERN Document Server

    AUTHOR|(CDS)2141109; Abelleira, Jose; Seryi, Andrei; Cruz Alaniz, Emilia

    2017-01-01

    One of the main challenges when designing final focus systems of particle accelerators is maximising the beam stay clear in the strong quadrupole magnets of the inner triplet. Moreover it is desirable to keep the quadrupoles in the triplet as short as possible for space and costs reasons but also to reduce chromaticity and simplify corrections schemes. An algorithm that explores the triplet parameter space to optimise both these aspects was written. It uses thin lenses as a first approximation and MADX for more precise calculations. In cooperation with radiation studies, this algorithm was then applied to design an alternative triplet for the final focus of the Future Circular Collider (FCC-hh).

  7. Observing and Reducing IFUs: INTEGRAL and PMAS—Properties of the Ionized Gas in HH 202

    Directory of Open Access Journals (Sweden)

    Luis López-Martín

    2014-01-01

    Full Text Available The reduction of integral field spectroscopy (IFS data requires several stages and many repetitive operations to convert raw data into, typically, a large number of spectra. Instead there are several semiautomatic data reduction tools and here we present this data reduction process using some of the Image Reduction and Analysis Facility (IRAF tasks devoted to reduce spectroscopic data. After explaining the whole process, we illustrate the power of this instrumental technique with some results obtained for the object HH202 in the Orion Nebula (Mesa-Delgado et al., 2009.

  8. Hemiconvulsion-Hemiplegia-Epilepsy syndrome associated with inflammatory-degenerative hystopathological findings in child with congenital adrenal hyperplasia.

    Science.gov (United States)

    Serino, Domenico; Camassei, Francesca Diomedi; Delalande, Olivier; Marras, Carlo E; Specchio, Nicola; Vigevano, Federico; Fusco, Lucia

    2014-05-01

    Hemiconvulsion-Hemiplegia (HH) syndrome represents an uncommon consequence of prolonged unilateral clonic or hemiconvulsive status epilepticus in childhood, usually occurring during a febrile illness, followed by ipsilateral hemiplegia. The subsequent appearance of focal seizures configures the so called Hemiconvulsion-Hemiplegia-Epilepsy (HHE) syndrome. The pathogenesis of HH/HHE syndrome is still unclear. We describe the case of a 4 year-old girl with congenital adrenal hyperplasia (CAH) whom developed HH/HHE syndrome with drug resistant seizures at the age of 21 months and underwent left cerebral hemispherotomy at the age of 3 years and 6 months. Histopathological findings showed the presence of an underlying inflammatory-degenerative process. Disregulation of the inflammatory cascade has been proposed as one of the possible pathogenetic mechanisms underlying HH/HHE syndrome. To our knowledge however, this is the first report of an association with a histologically documented inflammatory process. The clinical and histopathological findings of our reported case lend support to the possible role of inflammation in the pathogenesis of HH/HHE syndrome. Copyright © 2013 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  9. HH-MOTiF: de novo detection of short linear motifs in proteins by Hidden Markov Model comparisons.

    Science.gov (United States)

    Prytuliak, Roman; Volkmer, Michael; Meier, Markus; Habermann, Bianca H

    2017-04-29

    Short linear motifs (SLiMs) in proteins are self-sufficient functional sequences that specify interaction sites for other molecules and thus mediate a multitude of functions. Computational, as well as experimental biological research would significantly benefit, if SLiMs in proteins could be correctly predicted de novo with high sensitivity. However, de novo SLiM prediction is a difficult computational task. When considering recall and precision, the performances of published methods indicate remaining challenges in SLiM discovery. We have developed HH-MOTiF, a web-based method for SLiM discovery in sets of mainly unrelated proteins. HH-MOTiF makes use of evolutionary information by creating Hidden Markov Models (HMMs) for each input sequence and its closely related orthologs. HMMs are compared against each other to retrieve short stretches of homology that represent potential SLiMs. These are transformed to hierarchical structures, which we refer to as motif trees, for further processing and evaluation. Our approach allows us to identify degenerate SLiMs, while still maintaining a reasonably high precision. When considering a balanced measure for recall and precision, HH-MOTiF performs better on test data compared to other SLiM discovery methods. HH-MOTiF is freely available as a web-server at http://hh-motif.biochem.mpg.de. © The Author(s) 2017. Published by Oxford University Press on behalf of Nucleic Acids Research.

  10. Baseline inhibin B and anti-Mullerian hormone measurements for diagnosis of hypogonadotropic hypogonadism (HH) in boys with delayed puberty.

    Science.gov (United States)

    Coutant, Régis; Biette-Demeneix, Estelle; Bouvattier, Claire; Bouhours-Nouet, Natacha; Gatelais, Frédérique; Dufresne, Sylvie; Rouleau, Stéphanie; Lahlou, Najiba

    2010-12-01

    The diagnosis of isolated hypogonadotropic hypogonadism (IHH) in boys with delayed puberty is challenging, as may be the diagnosis of hypogonadotropic hypogonadism (HH) in boys with combined pituitary hormone deficiency (CPHD). Yet, the therapeutic choices for puberty induction depend on accurate diagnosis and may influence future fertility. The aim was to assess the utility of baseline inhibin B (INHB) and anti-Mullerian hormone (AMH) measurements to discriminate HH from constitutional delay of puberty (CDP). Both hormones are produced by Sertoli cells upon FSH stimulation. Moreover, prepubertal AMH levels are high as a reflection of Sertoli cell integrity. We studied 82 boys aged 14 to 18 yr with pubertal delay: 16 had IHH, 15 congenital HH within CPHD, and 51 CDP, as confirmed by follow-up. Subjects were genital stage 1 (testis volumeHH. In IHH and CPHD boys with genital stage 1, sensitivity and specificity were 100% for INHB concentration of 35 pg/ml or less. In IHH and CPHD boys with genital stage 2, sensitivities were 86 and 80%, whereas specificities were 92% and 88%, respectively, for an INHB concentration of 65 pg/ml or less. The performance of testosterone, AMH, FSH, and LH measurements was lower. No combination or ratio of hormones performed better than INHB alone. Discrimination of HH from CDP with baseline INHB measurement was excellent in subjects with genital stage 1 and fair in subjects with genital stage 2.

  11. Toward Understanding the Roaming Mechanism in H + MgH → Mg + HH Reaction.

    Science.gov (United States)

    Mauguière, Frédéric A L; Collins, Peter; Stamatiadis, Stamatis; Li, Anyang; Ezra, Gregory S; Farantos, Stavros C; Kramer, Zeb C; Carpenter, Barry K; Wiggins, Stephen; Guo, Hua

    2016-07-14

    The roaming mechanism in the reaction H + MgH →Mg + HH is investigated by classical and quantum dynamics employing an accurate ab initio three-dimensional ground electronic state potential energy surface. The reaction dynamics are explored by running trajectories initialized on a four-dimensional dividing surface anchored on three-dimensional normally hyperbolic invariant manifold associated with a family of unstable orbiting periodic orbits in the entrance channel of the reaction (H + MgH). By locating periodic orbits localized in the HMgH well or involving H orbiting around the MgH diatom, and following their continuation with the total energy, regions in phase space where reactive or nonreactive trajectories may be trapped are found. In this way roaming reaction pathways are deduced in phase space. Patterns similar to periodic orbits projected into configuration space are found for the quantum bound and resonance eigenstates. Roaming is attributed to the capture of the trajectories in the neighborhood of certain periodic orbits. The complex forming trajectories in the HMgH well can either return to the radical channel or "roam" to the MgHH minimum from where the molecule may react.

  12. ERDA at the 9 MV Tandem and at the 3 MV Tandetron of IFIN-HH

    Science.gov (United States)

    Petrascu, H.; Petrascu, M.; Pantelica, D.; Negoita, F.; Ionescu, P.; Mihai, M. D.; Acsente, T.; Statescu, M.; Scafes, A. C.

    2017-09-01

    Recoil spectrometry using heavy ions proposed in 1976 by L'Ecuyer has evolved into a universal IBA technique. Few years later an experimental setup for simultaneous light and medium heavy element detection including a compact ΔE(gas)-Er(solid) telescope, was developed at the Tandem accelerator of IFIN-HH. To increase the resolution, an integrated preamplifier was mounted close to the ionization chamber. The calibration procedure for the telescope and the software for the quantitative evaluation of the data are briefly presented. Recently, a 3 MV Tandetron accelerator has been installed and commissioned at the IFIN-HH. Among several ion-beam techniques for detection and depth profiling of hydrogen isotopes, Elastic Recoil Detection Analysis (ERDA) technique using a low energy 4He beam, proposed by Doyle and Peercy, is particularly advantageous. By measuring simultaneously both the H or D recoiling at a forward angle and backscattered 4He ions, a rather complete characterization of the sample can be achieved. Selected results from our investigations, obtained using these facilities, are presented.

  13. Discovery of X-rays from the protostellar outflow object HH2.

    Science.gov (United States)

    Pravdo, S H; Feigelson, E D; Garmire, G; Maeda, Y; Tsuboi, Y; Bally, J

    2001-10-18

    Herbig-Haro (HH) objects have been known for 50 years to be luminous condensations of gas in star-forming regions, but their underlying physical nature is still being elucidated. Previously suggested models encompass newborn stars, stellar winds clashing with nebular material, dense pockets of interstellar gas excited by shocks from outflows, and interstellar 'bullets' (ref. 6). Recent progress has been made with the jet-induced shock model, in which material streams out of young stellar objects and collides with the surrounding interstellar medium. A clear prediction of this model is that the most energetic Herbig-Haro objects will emit X-rays, although they have not hitherto been detected. Here we report the discovery of X-ray emission from one of the brightest and closest Herbig-Haro objects, HH2, at a level consistent with the model predictions. We conclude that this Herbig-Haro object contains shock-heated material located at or near its leading edge with a temperature of about 106 K.

  14. A one-sided knot ejection at the core of the HH 111 outflow

    Science.gov (United States)

    Gómez, L.; Rodríguez, L. F.; Loinard, L.

    2013-04-01

    We present an astrometry study of the radio source VLA 1 at the core of the HH 111 outflow using new data (2007) as well as archival observations (1992-1996). All data were taken at 3.6 cm with the Very Large Array in its most extended (A) configuration. The source VLA 1 has undergone a dramatic morphological change, showing a one-sided knot ejection in the 2007 epoch. We also report the detection of a 3.6 cm compact continuum source (VLA 3) located at (-10''.6, 98''.7) from VLA 1. No significant absolute proper motions were found for VLA 1 and VLA 3 and the upper limits are consistent with those found for (embedded) radio sources in the Orion Nebula. We favor the interpretation that in the continuum at 3.6 cm we are observing two nearly perpendicular jets. HH 111 presents a new case of one-sided jet ejection in a young stellar object. The galactic (or extragalactic) nature of VLA 3 remains unclear.

  15. 3D kinematics of the near-IR HH 223 outflow in L723

    Science.gov (United States)

    López, R.; Acosta-Pulido, J. A.; Estalella, R.; Gómez, G.; García-Lorenzo, B.

    2015-03-01

    In this work, we derive the full 3D kinematics of the near-infrared outflow HH 223, located in the dark cloud Lynds 723 (L723), where a well-defined quadrupolar CO outflow is found. HH 223 appears projected on to the two lobes of the east-west CO outflow. The radio continuum source VLA 2, towards the centre of the CO outflow, harbours a multiple system of low-mass young stellar objects. One of the components has been proposed to be the exciting source of the east-west CO outflow. From the analysis of the kinematics, we get further evidence on the relationship between the near-infrared and CO outflows and on the location of their exciting source. The proper motions were derived using multi-epoch, narrow-band H2 (2.122 μm line) images. Radial velocities were derived from the 2.122 μm line of the spectra. Because of the extended (˜5 arcmin), S-shaped morphology of the target, the spectra were obtained with the multi-object-spectroscopy (MOS) observing mode using the instrument Long-Slit Intermediate Resolution Infrared Spectrograph (LIRIS) at the 4.2 m William Herschel Telescope. To our knowledge, this work is the first time that MOS observing mode has been successfully used in the near-infrared range for an extended target.

  16. Optimizing laboratory animal stress paradigms: The H-H* experimental design.

    Science.gov (United States)

    McCarty, Richard

    2017-01-01

    Major advances in behavioral neuroscience have been facilitated by the development of consistent and highly reproducible experimental paradigms that have been widely adopted. In contrast, many different experimental approaches have been employed to expose laboratory mice and rats to acute versus chronic intermittent stress. An argument is advanced in this review that more consistent approaches to the design of chronic intermittent stress experiments would provide greater reproducibility of results across laboratories and greater reliability relating to various neural, endocrine, immune, genetic, and behavioral adaptations. As an example, the H-H* experimental design incorporates control, homotypic (H), and heterotypic (H*) groups and allows for comparisons across groups, where each animal is exposed to the same stressor, but that stressor has vastly different biological and behavioral effects depending upon each animal's prior stress history. Implementation of the H-H* experimental paradigm makes possible a delineation of transcriptional changes and neural, endocrine, and immune pathways that are activated in precisely defined stressor contexts. Copyright © 2016 Elsevier Ltd. All rights reserved.

  17. Deuterated formaldehyde in HH212: physics and chemistry of a typical protostar

    Science.gov (United States)

    Sahu, Dipen; Chakrabarti, Sandip Kumar; Minh, Young Chol

    2016-07-01

    HH212 is a nearby (400 pc) source in Orion. Recent observation (Codella et al., 2014) with ALMA using 24 no. of 12 m antenna revealed the source with high angular resolution and sensitivity (HPBW=0.65arc × 0.47 arc, σ - 3 to 4 mJy/beam/0.43 km s^-1) than previous SMA observation (Lee et al., 2007). This allows observations of several molecular lines e.g., SO, SO^2, C^{17}O, CO, and SiO. Emissions from these species probe different regions of this young stellar object, e.g., the outflow, the molecular jet, the envelop and the disk. The source might be the Class 0 protostellar system with a Keplerian disc and collimated bipolar SiO jets. Physics and chemistry of this region are very interesting. No deuterated molecule has been reported in this source except the recent report of deuterated water, HDO (Codella et al., 2016). Here, we report the HDCO (deuterated formaldehyde) line observation from ALMA data to probe the inner region of HH212. We compare HDCO line with other molecular lines to explain the possible chemistry and physics of the source, and also discussed the deuterium enrichment of molecular species.

  18. EVIDENCE OF NON-THERMAL X-RAY EMISSION FROM HH 80

    Energy Technology Data Exchange (ETDEWEB)

    López-Santiago, J. [Instituto de Matemática Interdisciplinar, S. D. Astronomía y Geodesia, Facultad de Ciencias Matemáticas, Universidad Complutense de Madrid, E-28040 Madrid (Spain); Peri, C. S.; Benaglia, P. [Instituto Argentino de Radioastronomía (IAR), CCT La Plata (CONICET), C.C.5, 1894 Villa Elisa, Buenos Aires (Argentina); Bonito, R. [Dipartimento di Fisica e Chimica, Università di Palermo, Piazza del Parlamento 1, I-90134 Palermo (Italy); Miceli, M. [INAF-Osservatorio Astronomico di Palermo, Piazza del Parlamento 1, I-90134 Palermo (Italy); Albacete-Colombo, J. F. [Universidad Nacional del COMAHUE, Monseñor Esandi y Ayacucho, 8500 Viedma, Río Negro (Argentina); De Castro, E. [Dpto. de Astrofísica y CC. de la Atmósfera, Universidad Complutense de Madrid, E-28040 Madrid (Spain)

    2013-10-20

    Protostellar jets appear at all stages of star formation when the accretion process is still at work. Jets travel at velocities of hundreds of km s{sup –1}, creating strong shocks when interacting with the interstellar medium. Several cases of jets have been detected in X-rays, typically showing soft emission. For the first time, we report evidence of hard X-ray emission possibly related to non-thermal processes not explained by previous models of the post-shock emission predicted in the jet/ambient interaction scenario. HH 80 is located at the south head of the jet associated with the massive protostar IRAS 18162-2048. It shows soft and hard X-ray emission in regions that are spatially separated, with the soft X-ray emission region situated behind the region of hard X-ray emission. We propose a scenario for HH 80 where soft X-ray emission is associated with thermal processes from the interaction of the jet with denser ambient matter and hard X-ray emission is produced by synchrotron radiation at the front shock.

  19. Ubr3, a Novel Modulator of Hh Signaling Affects the Degradation of Costal-2 and Kif7 through Poly-ubiquitination.

    Science.gov (United States)

    Li, Tongchao; Fan, Junkai; Blanco-Sánchez, Bernardo; Giagtzoglou, Nikolaos; Lin, Guang; Yamamoto, Shinya; Jaiswal, Manish; Chen, Kuchuan; Zhang, Jie; Wei, Wei; Lewis, Michael T; Groves, Andrew K; Westerfield, Monte; Jia, Jianhang; Bellen, Hugo J

    2016-05-01

    Hedgehog (Hh) signaling regulates multiple aspects of metazoan development and tissue homeostasis, and is constitutively active in numerous cancers. We identified Ubr3, an E3 ubiquitin ligase, as a novel, positive regulator of Hh signaling in Drosophila and vertebrates. Hh signaling regulates the Ubr3-mediated poly-ubiquitination and degradation of Cos2, a central component of Hh signaling. In developing Drosophila eye discs, loss of ubr3 leads to a delayed differentiation of photoreceptors and a reduction in Hh signaling. In zebrafish, loss of Ubr3 causes a decrease in Shh signaling in the developing eyes, somites, and sensory neurons. However, not all tissues that require Hh signaling are affected in zebrafish. Mouse UBR3 poly-ubiquitinates Kif7, the mammalian homologue of Cos2. Finally, loss of UBR3 up-regulates Kif7 protein levels and decreases Hh signaling in cultured cells. In summary, our work identifies Ubr3 as a novel, evolutionarily conserved modulator of Hh signaling that boosts Hh in some tissues.

  20. 177Lu-DOTA-HH1, a novel anti-CD37 radio-immunoconjugate: a study of toxicity in nude mice.

    Directory of Open Access Journals (Sweden)

    Ada H V Repetto-Llamazares

    Full Text Available CD37 is an internalizing B-cell antigen expressed on Non-Hodgkin lymphoma (NHL and chronic lymphocytic leukemia cells (CLL. The anti-CD37 monoclonal antibody HH1 was conjugated to the bifunctional chelator p-SCN-Bn-DOTA and labelled with the beta-particle emitting radionuclide 177Lu creating the radio-immunoconjugate (RIC 177Lu-DOTA-HH1 (177Lu-HH1, trade name Betalutin. The present toxicity study was performed prior to initiation of clinical studies with 177Lu-HH1.Nude mice with or without tumor xenografts were treated with 50 to 1000 MBq/kg 177Lu- HH1 and followed for clinical signs of toxicity up to ten months. Acute, life threatening bone marrow toxicity was observed in animals receiving 800 and 1000 MBq/kg 177Lu-HH1. Significant changes in serum concentrations of liver enzymes were evident for treatment with 1000 MBq/kg 177Lu-HH1. Lymphoid depletion, liver necrosis and atrophy, and interstitial cell hyperplasia of the ovaries were also observed for mice in this dose group.177Lu-DOTA-HH1 was well tolerated at dosages about 10 times above those considered relevant for radioimmunotherapy in patients with B-cell derived malignancies.The toxicity profile was as expected for RICs. Our experimental results have paved the way for clinical evaluation of 177Lu-HH1 in NHL patients.

  1. Fine-tuning of Hh signaling by the RNA-binding protein Quaking to control muscle development.

    Science.gov (United States)

    Lobbardi, Riadh; Lambert, Guillaume; Zhao, Jue; Geisler, Robert; Kim, Hyejeong R; Rosa, Frederic M

    2011-05-01

    The development of the different muscles within the somite is a complex process that involves the Hedgehog (Hh) signaling pathway. To specify the proper number of muscle cells and organize them spatially and temporally, the Hh signaling pathway needs to be precisely regulated at different levels, but only a few factors external to the pathway have been described. Here, we report for the first time the role of the STAR family RNA-binding protein Quaking A (QkA) in somite muscle development. We show in zebrafish that the loss of QkA function affects fast muscle fiber maturation as well as Hh-induced muscle derivative specification and/or morphogenesis. Mosaic analysis reveals that fast fiber maturation depends on the activity of QkA in the environment of fast fiber progenitors. We further show that Hh signaling requires QkA activity for muscle development. By an in silico approach, we screened the 3'UTRs of known Hh signaling component mRNAs for the Quaking response element and found the transcription factor Gli2a, a known regulator of muscle fate development. Using destabilized GFP as a reporter, we show that the gli2a mRNA 3'UTR is a functional QkA target. Consistent with this notion, the loss of QkA function rescued slow muscle fibers in yot mutant embryos, which express a dominant-negative Gli2a isoform. Thus, our results reveal a new mechanism to ensure muscle cell fate diversity by fine-tuning of the Hh signaling pathway via RNA-binding proteins.

  2. [Cockayne syndrome and epidermolysis bullosa dystrophica (Hallopeau-Siemens). Simultaneous occurrence in a family].

    Science.gov (United States)

    Lubach, D; Riechers, U

    1982-09-01

    A Turkish family with four children is described, two boys suffering from Cockayne's syndrome and a girl from recessive dystrophic epidermolysis bullosa (Hallopeau-Siemens). The outstanding features in the brothers are a pronounced delay in growth which began in both children at the age of about 1.5 years, progeria-like facial features, and a high degree of light sensitivity noticed very soon after birth. The daughter died of septicemia at the age of 4 years. Both diseases are rare and probably the consequence of extremely high consanguinity.

  3. [Neonatal progeroid syndrome (Wiedemann-Rautenstrauch). A follow-up study].

    Science.gov (United States)

    Rautenstrauch, T; Snigula, F; Wiedemann, H R

    1994-01-01

    The diagnostic criteria of the neonatal progeroid syndrome (NPS) are: intrauterine and postnatal growth failure, hydrocephalic appearance, prominent scalp veins, old-looking face, absence of subcutaneous fat and neonatal teeth. Until now altogether nine cases have been reported, which were predominant diagnosed in infant age. The NPS is in general assigned to the autosomal recessive trait. With increasing age the outward appearance stays unchanged. The in 1977 under diagnose progeria presented patient is now 16 years old. With her a considerable atactic movement disturbance developed next to a psychomotoric retardation. The change in metabolism of proteoglycane that was remarkable in infant age is now no longer provable.

  4. Cell-sorting at the A/P boundary in the Drosophila wing primordium: a computational model to consolidate observed non-local effects of Hh signaling.

    Science.gov (United States)

    Schilling, Sabine; Willecke, Maria; Aegerter-Wilmsen, Tinri; Cirpka, Olaf A; Basler, Konrad; von Mering, Christian

    2011-04-01

    Non-intermingling, adjacent populations of cells define compartment boundaries; such boundaries are often essential for the positioning and the maintenance of tissue-organizers during growth. In the developing wing primordium of Drosophila melanogaster, signaling by the secreted protein Hedgehog (Hh) is required for compartment boundary maintenance. However, the precise mechanism of Hh input remains poorly understood. Here, we combine experimental observations of perturbed Hh signaling with computer simulations of cellular behavior, and connect physical properties of cells to their Hh signaling status. We find that experimental disruption of Hh signaling has observable effects on cell sorting surprisingly far from the compartment boundary, which is in contrast to a previous model that confines Hh influence to the compartment boundary itself. We have recapitulated our experimental observations by simulations of Hh diffusion and transduction coupled to mechanical tension along cell-to-cell contact surfaces. Intriguingly, the best results were obtained under the assumption that Hh signaling cannot alter the overall tension force of the cell, but will merely re-distribute it locally inside the cell, relative to the signaling status of neighboring cells. Our results suggest a scenario in which homotypic interactions of a putative Hh target molecule at the cell surface are converted into a mechanical force. Such a scenario could explain why the mechanical output of Hh signaling appears to be confined to the compartment boundary, despite the longer range of the Hh molecule itself. Our study is the first to couple a cellular vertex model describing mechanical properties of cells in a growing tissue, to an explicit model of an entire signaling pathway, including a freely diffusible component. We discuss potential applications and challenges of such an approach.

  5. Proton cross-talk and losses in the dispersion suppressor regions at the FCC-hh

    CERN Document Server

    AUTHOR|(CDS)2100784; Appleby, Robert Barrie; Krainer, Alexander; Langner, Andy Sven; Abelleira, Jose

    2017-01-01

    Protons that collide at the interaction points of the FCC-hh may contribute to the background in the subsequent detector. Due to the high luminosity of the proton beams this may be of concern. Using DPMJET-III to model 50 TeV proton-proton collisions, tracking studies have been performed with PTC and MERLIN in order to gauge the elastic and inelastic proton cross-talk. High arc losses, particularly in the dispersion suppressor regions, have been revealed. These losses originate mainly from particles with a momentum deviation, either from interaction with a primary collimator in the betatron cleaning insertion, or from the proton-proton collisions. This issue can be mitigated by introducing additional collimators in the dispersion suppressor region. The specific design, lattice integration, and the effect of these collimators on cross-talk is assessed.

  6. Evidence for CP violation in time-integrated $D^0 \\rightarrow h^-h^+$ decay rates

    CERN Document Server

    Aaij, R; Adeva, B; Adinolfi, M; Adrover, C; Affolder, A; Ajaltouni, Z; Albrecht, J; Alessio, F; Alexander, M; Alkhazov, G; Alvarez Cartelle, P; Alves, A A; Amato, S; Amhis, Y; Anderson, J; Appleby, R B; Aquines Gutierrez, O; Archilli, F; Arrabito, L; Artamonov, A; Artuso, M; Aslanides, E; Auriemma, G; Bachmann, S; Back, J J; Bailey, D S; Balagura, V; Baldini, W; Barlow, R J; Barschel, C; Barsuk, S; Barter, W; Bates, A; Bauer, C; Bauer, Th; Bay, A; Bediaga, I; Belogurov, S; Belous, K; Belyaev, I; Ben-Haim, E; Benayoun, M; Bencivenni, G; Benson, S; Benton, J; Bernet, R; Bettler, M-O; van Beuzekom, M; Bien, A; Bifani, S; Bird, T; Bizzeti, A; Bjørnstad, P M; Blake, T; Blanc, F; Blanks, C; Blouw, J; Blusk, S; Bobrov, A; Bocci, V; Bondar, A; Bondar, N; Bonivento, W; Borghi, S; Borgia, A; Bowcock, T J V; Bozzi, C; Brambach, T; van den Brand, J; Bressieux, J; Brett, D; Britsch, M; Britton, T; Brook, N H; Brown, H; Büchler-Germann, A; Burducea, I; Bursche, A; Buytaert, J; Cadeddu, S; Callot, O; Calvi, M; Calvo Gomez, M; Camboni, A; Campana, P; Carbone, A; Carboni, G; Cardinale, R; Cardini, A; Carson, L; Carvalho Akiba, K; Casse, G; Cattaneo, M; Cauet, Ch; Charles, M; Charpentier, Ph; Chiapolini, N; Ciba, K; Cid Vidal, X; Ciezarek, G; Clarke, P E L; Clemencic, M; Cliff, H V; Closier, J; Coca, C; Coco, V; Cogan, J; Collins, P; Comerma-Montells, A; Constantin, F; Contu, A; Cook, A; Coombes, M; Corti, G; Cowan, G A; Currie, R; D'Ambrosio, C; David, P; David, P N Y; De Bonis, I; De Capua, S; De Cian, M; De Lorenzi, F; De Miranda, J M; De Paula, L; De Simone, P; Decamp, D; Deckenhoff, M; Degaudenzi, H; Del Buono, L; Deplano, C; Derkach, D; Deschamps, O; Dettori, F; Dickens, J; Dijkstra, H; Diniz Batista, P; Domingo Bonal, F; Donleavy, S; Dordei, F; Dosil Suárez, A; Dossett, D; Dovbnya, A; Dupertuis, F; Dzhelyadin, R; Dziurda, A; Easo, S; Egede, U; Egorychev, V; Eidelman, S; van Eijk, D; Eisele, F; Eisenhardt, S; Ekelhof, R; Eklund, L; Elsasser, Ch; Elsby, D; Esperante Pereira, D; Estève, L; Falabella, A; Fanchini, E; Färber, C; Fardell, G; Farinelli, C; Farry, S; Fave, V; Fernandez Albor, V; Ferro-Luzzi, M; Filippov, S; Fitzpatrick, C; Fontana, M; Fontanelli, F; Forty, R; Frank, M; Frei, C; Frosini, M; Furcas, S; Gallas Torreira, A; Galli, D; Gandelman, M; Gandini, P; Gao, Y; Garnier, J-C; Garofoli, J; Garra Tico, J; Garrido, L; Gascon, D; Gaspar, C; Gauvin, N; Gersabeck, M; Gershon, T; Ghez, Ph; Gibson, V; Gligorov, V V; Göbel, C; Golubkov, D; Golutvin, A; Gomes, A; Gordon, H; Grabalosa Gándara, M; Graciani Diaz, R; Granado Cardoso, L A; Graugés, E; Graziani, G; Grecu, A; Greening, E; Gregson, S; Gui, B; Gushchin, E; Guz, Yu; Gys, T; Haefeli, G; Haen, C; Haines, S C; Hampson, T; Hansmann-Menzemer, S; Harji, R; Harnew, N; Harrison, J; Harrison, P F; Hartmann, T; He, J; Heijne, V; Hennessy, K; Henrard, P; Hernando Morata, J A; van Herwijnen, E; Hicks, E; Holubyev, K; Hopchev, P; Hulsbergen, W; Hunt, P; Huse, T; Huston, R S; Hutchcroft, D; Hynds, D; Iakovenko, V; Ilten, P; Imong, J; Jacobsson, R; Jaeger, A; Jahjah Hussein, M; Jans, E; Jansen, F; Jaton, P; Jean-Marie, B; Jing, F; John, M; Johnson, D; Jones, C R; Jost, B; Kaballo, M; Kandybei, S; Karacson, M; Karbach, T M; Keaveney, J; Kenyon, I R; Kerzel, U; Ketel, T; Keune, A; Khanji, B; Kim, Y M; Knecht, M; Koopman, R; Koppenburg, P; Kozlinskiy, A; Kravchuk, L; Kreplin, K; Kreps, M; Krocker, G; Krokovny, P; Kruse, F; Kruzelecki, K; Kucharczyk, M; Kvaratskheliya, T; La Thi, V N; Lacarrere, D; Lafferty, G; Lai, A; Lambert, D; Lambert, R W; Lanciotti, E; Lanfranchi, G; Langenbruch, C; Latham, T; Lazzeroni, C; Le Gac, R; van Leerdam, J; Lees, J-P; Lefèvre, R; Leflat, A; Lefrançois, J; Leroy, O; Lesiak, T; Li, L; Li Gioi, L; Lieng, M; Liles, M; Lindner, R; Linn, C; Liu, B; Liu, G; von Loeben, J; Lopes, J H; Lopez Asamar, E; Lopez-March, N; Lu, H; Luisier, J; Mac Raighne, A; Machefert, F; Machikhiliyan, I V; Maciuc, F; Maev, O; Magnin, J; Malde, S; Mamunur, R M D; Manca, G; Mancinelli, G; Mangiafave, N; Marconi, U; Märki, R; Marks, J; Martellotti, G; Martens, A; Martin, L; Martín Sánchez, A; Martinez Santos, D; Massafferri, A; Mathe, Z; Matteuzzi, C; Matveev, M; Maurice, E; Maynard, B; Mazurov, A; McGregor, G; McNulty, R; Meissner, M; Merk, M; Merkel, J; Messi, R; Miglioranzi, S; Milanes, D A; Minard, M-N; Molina Rodriguez, J; Monteil, S; Moran, D; Morawski, P; Mountain, R; Mous, I; Muheim, F; Müller, K; Muresan, R; Muryn, B; Muster, B; Musy, M; Mylroie-Smith, J; Naik, P; Nakada, T; Nandakumar, R; Nasteva, I; Nedos, M; Needham, M; Neufeld, N; Nguyen-Mau, C; Nicol, M; Niess, V; Nikitin, N; Nomerotski, A; Novoselov, A; Oblakowska-Mucha, A; Obraztsov, V; Oggero, S; Ogilvy, S; Okhrimenko, O; Oldeman, R; Orlandea, M; Otalorav Goicochea, J M; Owen, P; Pal, K; Palacios, J; Palano, A; Palutan, M; Panman, J; Papanestis, A; Pappagallo, M; Parkes, C; Parkinson, C J; Passaleva, G; Patel, G D; Patel, M; Paterson, S K; Patrick, G N; Patrignani, C; Pavel-Nicorescu, C; Pazos Alvarez, A; Pellegrino, A; Penso, G; Pepe Altarelli, M; Perazzini, S; Perego, D L; Perez Trigo, E; Pérez-Calero Yzquierdo, A; Perret, P; Perrin-Terrin, M; Pessina, G; Petrella, A; Petrolini, A; Phan, A; Picatoste Olloqui, E; Pie Valls, B; Pietrzyk, B; Pilař, T; Pinci, D; Plackett, R; Playfer, S; Plo Casasus, M; Polok, G; Poluektov, A; Polycarpo, E; Popov, D; Popovici, B; Potterat, C; Powell, A; Prisciandaro, J; Pugatch, V; Puig Navarro, A; Qian, W; Rademacker, J H; Rakotomiaramanana, B; Rangel, M S; Raniuk, I; Raven, G; Redford, S; Reid, M M; dos Reis, A C; Ricciardi, S; Rinnert, K; Roa Romero, D A; Robbe, P; Rodrigues, E; Rodrigues, F; Rodriguez Perez, P; Rogers, G J; Roiser, S; Romanovsky, V; Rosello, M; Rouvinet, J; Ruf, T; Ruiz, H; Sabatino, G; Saborido Silva, J J; Sagidova, N; Sail, P; Saitta, B; Salzmann, C; Sannino, M; Santacesaria, R; Santamarina Rios, C; Santinelli, R; Santovetti, E; Sapunov, M; Sarti, A; Satriano, C; Satta, A; Savrie, M; Savrina, D; Schaack, P; Schiller, M; Schleich, S; Schlupp, M; Schmelling, M; Schmidt, B; Schneider, O; Schopper, A; Schune, M-H; Schwemmer, R; Sciascia, B; Sciubba, A; Seco, M; Semennikov, A; Senderowska, K; Sepp, I; Serra, N; Serrano, J; Seyfert, P; Shapkin, M; Shapoval, I; Shatalov, P; Shcheglov, Y; Shears, T; Shekhtman, L; Shevchenko, O; Shevchenko, V; Shires, A; Silva Coutinho, R; Skwarnicki, T; Smith, A C; Smith, N A; Smith, E; Sobczak, K; Soler, F J P; Solomin, A; Soomro, F; Souza De Paula, B; Spaan, B; Sparkes, A; Spradlin, P; Stagni, F; Stahl, S; Steinkamp, O; Stoica, S; Stone, S; Storaci, B; Straticiuc, M; Straumann, U; Subbiah, V K; Swientek, S; Szczekowski, M; Szczypka, P; Szumlak, T; T'Jampens, S; Teodorescu, E; Teubert, F; Thomas, C; Thomas, E; van Tilburg, J; Tisserand, V; Tobin, M; Topp-Joergensen, S; Torr, N; Tournefier, E; Tran, M T; Tsaregorodtsev, A; Tuning, N; Ubeda Garcia, M; Ukleja, A; Urquijo, P; Uwer, U; Vagnoni, V; Valenti, G; Vazquez Gomez, R; Vazquez Regueiro, P; Vecchi, S; Velthuis, J J; Veltri, M; Viaud, B; Videau, I; Vilasis-Cardona, X; Visniakov, J; Vollhardt, A; Volyanskyy, D; Voong, D; Vorobyev, A; Voss, H; Wandernoth, S; Wang, J; Ward, D R; Watson, N K; Webber, A D; Websdale, D; Whitehead, M; Wiedner, D; Wiggers, L; Wilkinson, G; Williams, M P; Williams, M; Wilson, F F; Wishahi, J; Witek, M; Witzeling, W; Wotton, S A; Wyllie, K; Xie, Y; Xing, F; Xing, Z; Yang, Z; Young, R; Yushchenko, O; Zavertyaev, M; Zhang, F; Zhang, L; Zhang, W C; Zhang, Y; Zhelezov, A; Zhong, L; Zverev, E; Zvyagin, A

    2012-01-01

    A search for time-integrated $CP$ violation in $D^0 \\rightarrow h^-h^+$ ($h=K$, $\\pi$) decays is presented using 0.62~fb$^{-1}$ of data collected by LHCb in 2011. The flavor of the charm meson is determined by the charge of the slow pion in the $D^{*+} \\rightarrow D^0 \\pi^+$ and $D^{*-} \\rightarrow \\overline{D}^0 \\pi^-$ decay chains. The difference in $CP$ asymmetry between $D^0 \\rightarrow K^- K^+$ and $D^0 \\rightarrow \\pi^- \\pi^+$, $\\Delta A_{CP} \\equiv A_{CP}(K^-K^+) \\, - \\, A_{CP}(\\pi^-\\pi^+)$, is measured to be $\\left[ -0.82 \\pm 0.21 (\\mathrm{stat.}) \\pm 0.11 (\\mathrm{syst.}) \\right]\\%$. This differs from the hypothesis of $CP$ conservation by $3.5$ standard deviations.

  7. The X-ray emission mechanism in the protostellar jet HH 154

    Science.gov (United States)

    Bonito, R.; Orlando, S.; Peres, G.; Favata, F.; Rosner, R.

    2004-09-01

    We study the mechanism causing the X-ray emission recently detected in protostellar jets, by performing a detailed modeling of the interaction between a supersonic jet originating from a young stellar object and the ambient medium, for various values of density contrast, ν, between the ambient density and the jet, and of Mach number, M; radiative losses and thermal conduction have been taken into account. Here we report a representative case which reproduces, without any ad hoc assumption, the characteristics of the X-ray emission recently observed in the protostellar jet HH 154. We find that the X-ray emission originates from a localized blob, consistent with observations, which moves with velocity v ˜ 500 km s-1; we therefore predict the X-ray source to have a detectable proper motion.

  8. El Perfil Sinusoidal del Jet HH 31 en la Protoestrella IRAS 042482612

    Science.gov (United States)

    Ferrero, L. V.; Gómez, M. N.

    In this contribution we study the HH 31 jet; associated with the Class I proto-star; IRAS 042482612 (age 10 yrs); in the Taurus molecular cloud. We use mid-infrared images; taken by Spitzer and WISE; to analyze the sinusoidal or S-shape chain of knots (or EGOs) that delineate the jet. The binarity of the central source naturally explains the wiggling jet. The orbital period is 2.7 times the estimated dynamical time of the jet. The spatial difference between knots agrees with time elapse expected between quasi-periodic FU Orionis events; suggesting that central star might have experimented this type of events several times since its birth. FULL TEXT IN SPANISH

  9. ATLAS Searches for VH, HH, VV, V+$\\gamma$/$\\gamma\\gamma$ Resonances

    CERN Document Server

    Biesuz, Nicolo Vladi; The ATLAS collaboration

    2017-01-01

    The discovery of a Higgs boson at the Large Hadron Collider motivates searches for physics beyond the Standard Model in channels involving coupling to the Higgs boson. A search for massive resonances decaying into couples of bosons is described. The considered final states are: $HH$, $VH$, $VV$, $V\\gamma$ and $\\gamma\\gamma$ with $V$ indicating either the $W$ or the $Z$ boson. Final states with different number of leptons or photons and where, in many cases, at least one Higgs decays into a b-quark pair are studied using different jet reconstruction techniques which allow to optimize the signal acceptance for low or Higgs boson transverse momentum. The most recent diboson resonance searches using LHC Run 2 data are described.

  10. Non linear field correction effects on the dynamic aperture of the FCC-hh

    CERN Document Server

    AUTHOR|(INSPIRE)INSPIRE-00361058; Seryi, Andrei; Maclean, Ewen Hamish; Martin, Roman; Tomas Garcia, Rogelio

    2017-01-01

    The Future Circular Collider (FCC) design study aims to develop the designs of possible circular colliders in the post LHC era. In particular the FCC-hh will aim to produce proton-proton collisions at a center of mass energy of 100 TeV. Given the large beta functions and integrated length of the quadrupoles of the final focus triplet the effect of systematic and random non linear errors in the magnets are expected to have a severe impact on the stability of the beam. Following the experience on the HL-LHC this work explores the implementation of non-linear correctors to minimize the resonance driving terms arising from the errors of the triplet. Dynamic aperture studies are then performed to study the impact of this correction.

  11. VLT spectroscopic analysis of HH 202. Implications on dust destruction and thermal inhomogeneities

    Science.gov (United States)

    Espíritu, J. N.; Peimbert, A.; Delgado-Inglada, G.; Ruiz, M. T.

    2017-04-01

    We present a long-slit spectroscopic analysis of Herbig-Haro 202 and the surrounding gas of the Orion Nebula using data from the Very Large Telescope. We determined the spatial variation of its physical conditions and chemical abundances; our results are consistent with those from previous studies albeit with improved uncertainties in some determinations. Special attention is paid to the iron (Fe) and oxygen (O) abundances, which show a peak at the brightest part of HH 202, allowing us to estimate that 57% of the dust is the destroyed; we also calculate the amount of depletion of oxygen in dust grains, which amounts to 0.126±0.024 dex. Finally we show that O abundances determined from collisionally excited lines and recombination lines are irreconcilable at the center of the shock unless thermal inhomogeneities are considered.

  12. A composite L-band HH radar backscattering model for coniferous forest stands

    Science.gov (United States)

    Sun, Guoquing; Simonett, David S.

    1988-01-01

    The radar backscattering model developed by Richards et al. (1987), has been improved and further tested in this research. The trunk term may now be calculated from the exact solution to the electromagnetic wave equations instead of the corner reflector equation. Rough surface models have been introduced into the radar model, so that the forward reflectance and the backscattering from the ground surface are now calculated from the same model and, thus, are consistent. The number of trees in an individual pixel is assumed to be Poisson distributed, with tree height in a stand log-normally distributed. The simulated results show that the match of backscattering coefficients for eight forest stands between SIR-B image data and the simulated results are satisfying, and that the trunk term now seems to be convincingly established as the dominant term in the L-band HH radar return from coniferous forest stands.

  13. Neutral competition of stem cells is skewed by proliferative changes downstream of Hh and Hpo.

    Science.gov (United States)

    Amoyel, Marc; Simons, Benjamin D; Bach, Erika A

    2014-10-16

    Neutral competition, an emerging feature of stem cell homeostasis, posits that individual stem cells can be lost and replaced by their neighbors stochastically, resulting in chance dominance of a clone at the niche. A single stem cell with an oncogenic mutation could bias this process and clonally spread the mutation throughout the stem cell pool. The Drosophila testis provides an ideal system for testing this model. The niche supports two stem cell populations that compete for niche occupancy. Here, we show that cyst stem cells (CySCs) conform to the paradigm of neutral competition and that clonal deregulation of either the Hedgehog (Hh) or Hippo (Hpo) pathway allows a single CySC to colonize the niche. We find that the driving force behind such behavior is accelerated proliferation. Our results demonstrate that a single stem cell colonizes its niche through oncogenic mutation by co-opting an underlying homeostatic process. © 2014 The Authors.

  14. Improved bow shock models for Herbig-Haro objects - Application to HH 2A-prime

    Science.gov (United States)

    Raymond, John C.; Hartmann, Lee; Hartigan, Patrick

    1988-01-01

    An improved version of the bow shock theory previously applied to Herbig-Haro objects is presented. The modifications provide a more accurate calculation of the ionization state of material entering the bow shock. The revised preionization does not drastically affect the emission-line predictions for a 200 km/s bow shock model, though the effects will be more severe for slower shock velocities. The line profiles of the new models resemble the observed profiles somewhat more closely, and the relative emission-line intensities typically differ by 30 percent from those predicted by the older models. The models agree well with new IUE spectra and existing optical data for HH 2A-prime.

  15. The HH212 Protostar as Observed by ALMA: the Jet, the Cavity, and the Forming Disk

    Science.gov (United States)

    Codella, C.; Cabrit, S.; Gueth, F.; Bachiller, R.; Gusdorf, A.; Lefloch, B.; Leurini, S.; Nisini, B.; Podio, L.; Santangelo, G.; Tafalla, M.; Yvart, W.

    2015-12-01

    We report ALMA observations of HH212, a protostar driving a strikingly bipolar H2/SiO collimated jet. We show how ALMA-Band 7 data can trace in unprecedented detail, and within a single spectral set-up, all the crucial ingredients involved in the star-disk formation recipe, namely: (i) the dusty protostar; (ii) the axial jet launched from it; (iii) the biconical outflow and its cavities; (iv) the parent infalling envelope; (v) the forming disk. We reveal different kinematics among chemical tracers, and more asymmetric structures than predicted by simple models, with significant contribution from the rotating swept-up cavity. In particular, we focus on the C17O emission indicating a combination of infall and rotation, with a keplerian disk nested inside

  16. Physics at the FCC-hh, a 100 TeV pp collider

    CERN Document Server

    2017-01-01

    A 100 TeV pp collider is under consideration, by the high-energy physics community, as an important step for the future development of our field, following the completion of the LHC and High-luminosity LHC physics programmes. In particular, CERN is considering 100 TeV pp collisions as the key target of a Future Circular Collider facility, built around a 100 km tunnel and designed to deliver pp, e+e- and ep collisions, in addition to a programme with heavy ion beams and with the injector complex. CERN is coordinating an international study tasked with the completion, by the end of 2018, of a Conceptual Design Report (CDR) for this facility. This document presents the first results of the assessment of the physics potential of the hadronic part of this research programme (FCC-hh).

  17. The Circumestellar Disk of the B0 Protostar Powering the HH 80-81 Radio Jet

    Science.gov (United States)

    Girart, J. M.; Estalella, R.; Fernández-López, M.; Curiel, S.; Frau, P.; Galvan-Madrid, R.; Rao, R.; Busquet, G.; Juárez, C.

    2017-09-01

    We present subarcsecond angular resolution observations carried out with the Submillimeter Array (SMA) at 880 μm centered at the B0-type protostar GGD27 MM1, the driving source of the parsec scale HH 80-81 jet. We constrain its polarized continuum emission to ≲0.8% at this wavelength. Its submillimeter spectrum is dominated by sulfur-bearing species tracing a rotating-disk-like structure (SO and SO2 isotopologues mainly), but also shows HCN-bearing and CH3OH lines, which trace the disk and the outflow cavity walls excavated by the HH 80-81 jet. The presence of many sulfurated lines could indicate the presence of shocked gas at the disk’s centrifugal barrier or that MM1 is a hot core at an evolved stage. The resolved SO2 emission traces the disk kinematics very well and we fit the SMA observations using a thin-disk Keplerian model, which gives the inclination (47°), the inner (≲170 au) and outer (˜950-1300 au) radii, and the disk’s rotation velocity (3.4 km s-1 at a putative radius of 1700 au). We roughly estimate a protostellar dynamical mass of 4-18 {M}⊙ . MM2 and WMC cores show, comparatively, an almost empty spectra, suggesting that they are associated with extended emission detected in previous low-angular resolution observations, and therefore indicating youth (MM2) or the presence of a less massive object (WMC).

  18. Discrepancy between electroencephalography and hemodynamics in a patient with Cockayne syndrome during general anesthesia.

    Science.gov (United States)

    Tsukamoto, Masanori; Hitosugi, Takashi; Yokoyama, Takeshi

    2016-12-01

    Cockayne syndrome is a kind of progeria with autosomal chromosome recessiveness described first by Cockayne in 1936. Patients with this syndrome were characterized by retarded growth, cerebral atrophy, and mental retardation. We experienced an anesthetic management of a patient with Cockayne syndrome, who underwent dental treatment twice. The primary concern was discrepancy between electroencephalography and hemodynamics. The values of bispectral index showed a sharp fall to 1 digit and suppression ratio more than 40, while hemodynamics was stable during induction of anesthesia with sevoflurane 8%. We should pay attention to anesthetic depth in the central nervous system in patients with Cockayne syndrome. Titration of anesthetics should be performed by the information from electroencephalography. Copyright © 2016 Elsevier Inc. All rights reserved.

  19. Incidence, morbidity, and mortality of Terson syndrome in Hamilton, Ontario.

    Science.gov (United States)

    Seif, Gamal I; Teichman, Joshua C; Reddy, Kesava; Martin, Charmaine; Rodriguez, Amadeo R

    2014-09-01

    Evaluate the incidence, neurologic morbidity, and mortality of patients with Terson syndrome. Consecutive patients admitted to the Hamilton General Hospital from May 2012 to May 2013 with a diagnosis of spontaneous subarachnoid hemorrhage (SAH) were recruited. Funduscopic examinations were performed under pharmacological mydriasis. Outcome measures included: (1) the presence or absence of Terson syndrome; (2) The Glasgow Coma Scale (GCS), Hunt and Hess scale (H&H), and SAH Fisher score upon admission to the hospital; (3) the modified Rankin score upon discharge; and (4) and all-cause mortality. Forty-six patients were included and 10 had Terson syndrome (21%). The median H&H, GCS, and Fisher scores were 4, 6.5, and 4.0 for patients with Terson syndrome vs. 2, 14, and 3 for patients without Terson syndrome (p=0.0032, 0.0052, and 0.031), respectively. The median Rankin score was 6 for patients with Terson syndrome vs. 3.5 for patients without Terson syndrome (p=0.0019). The odds of all-cause mortality with Terson syndrome vs. no Terson syndrome was 12: 1 (95% confidence interval 2.33-61.7), p =0.003. Only four of the 10 patients with Terson syndrome survived. Based on this study, approximately one-fifth of patients admitted to the hospital with a spontaneous SAH could have Terson syndrome. Patients with Terson syndrome have significantly worse GCS and H&H scores upon admission to the hospital, lower modified Rankin scores upon discharge, and greater mortality. Thus, Terson syndrome is not rare among patients with SAH and carries a worse prognosis.

  20. APEX-CHAMP(+) high-J CO observations of low-mass young stellar objects I. The HH 46 envelope and outflow

    NARCIS (Netherlands)

    van Kempen, T. A.; van Dishoeck, E. F.; Guesten, R.; Kristensen, L. E.; Schilke, P.; Hogerheijde, M. R.; Boland, W.; Nefs, B.; Menten, K. M.; Baryshev, A.; Wyrowski, F.

    Context. The spectacular outflow of HH 46/47 is driven by HH 46 IRS 1, an embedded Class I Young Stellar Object (YSO). Although much is known about this region from extensive optical and infrared observations, the properties of its protostellar envelope and molecular outflow are poorly constrained.

  1. Updated branching fraction measurements of B-(s)(0) -> K(S)(0)h(+)h'(-) decays

    NARCIS (Netherlands)

    Dufour, L.; Mulder, M; Onderwater, C. J. G.; Pellegrino, A.; Tolk, S.; van Veghel, M.

    2017-01-01

    The charmless three-body decays B-(s)(0) -> K(S)(0)h(+)h '(-) (where h((')) - pi, K) are analysed using a sample of pp collision data recorded by the LHCb experiment, corresponding to an integrated luminosity of 3 fb(-1). The branching fractions are measured relative to that of the B-0 -> K-S(0)

  2. Efficient heterologous expression and secretion in Aspergillus oryzae of a llama variable heavy-chain antibody fragment V(HH) against EGFR.

    Science.gov (United States)

    Okazaki, Fumiyoshi; Aoki, Jun-ichi; Tabuchi, Soichiro; Tanaka, Tsutomu; Ogino, Chiaki; Kondo, Akihiko

    2012-10-01

    We have constructed a filamentous fungus Aspergillus oryzae that secretes a llama variable heavy-chain antibody fragment (V(HH)) that binds specifically to epidermal growth factor receptor (EGFR) in a culture medium. A major improvement in yield was achieved by fusing the V(HH) with a Taka-amylase A signal sequence (sTAA) and a segment of 28 amino acids from the N-terminal region of Rhizopus oryzae lipase (N28). The yields of secreted, immunologically active anti-EGFR V(HH) reached 73.8 mg/1 in a Sakaguchi flask. The V(HH) fragments were released from the sTAA or N28 proteins by an indigenous A. oryzae protease during cultivation. The purified recombinant V(HH) fragment was specifically recognized and could bind to the EGFR with a high affinity.

  3. Sequential application of ligand and structure based modeling approaches to index chemicals for their hH4R antagonism.

    Science.gov (United States)

    Pappalardo, Matteo; Shachaf, Nir; Basile, Livia; Milardi, Danilo; Zeidan, Mouhammed; Raiyn, Jamal; Guccione, Salvatore; Rayan, Anwar

    2014-01-01

    The human histamine H4 receptor (hH4R), a member of the G-protein coupled receptors (GPCR) family, is an increasingly attractive drug target. It plays a key role in many cell pathways and many hH4R ligands are studied for the treatment of several inflammatory, allergic and autoimmune disorders, as well as for analgesic activity. Due to the challenging difficulties in the experimental elucidation of hH4R structure, virtual screening campaigns are normally run on homology based models. However, a wealth of information about the chemical properties of GPCR ligands has also accumulated over the last few years and an appropriate combination of these ligand-based knowledge with structure-based molecular modeling studies emerges as a promising strategy for computer-assisted drug design. Here, two chemoinformatics techniques, the Intelligent Learning Engine (ILE) and Iterative Stochastic Elimination (ISE) approach, were used to index chemicals for their hH4R bioactivity. An application of the prediction model on external test set composed of more than 160 hH4R antagonists picked from the chEMBL database gave enrichment factor of 16.4. A virtual high throughput screening on ZINC database was carried out, picking ∼ 4000 chemicals highly indexed as H4R antagonists' candidates. Next, a series of 3D models of hH4R were generated by molecular modeling and molecular dynamics simulations performed in fully atomistic lipid membranes. The efficacy of the hH4R 3D models in discrimination between actives and non-actives were checked and the 3D model with the best performance was chosen for further docking studies performed on the focused library. The output of these docking studies was a consensus library of 11 highly active scored drug candidates. Our findings suggest that a sequential combination of ligand-based chemoinformatics approaches with structure-based ones has the potential to improve the success rate in discovering new biologically active GPCR drugs and increase the

  4. Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective.

    Science.gov (United States)

    Cau, Pierre; Navarro, Claire; Harhouri, Karim; Roll, Patrice; Sigaudy, Sabine; Kaspi, Elise; Perrin, Sophie; De Sandre-Giovannoli, Annachiara; Lévy, Nicolas

    2014-05-01

    Lamin A-related progeroid syndromes are genetically determined, extremely rare and severe. In the past ten years, our knowledge and perspectives for these diseases has widely progressed, through the progressive dissection of their pathophysiological mechanisms leading to precocious and accelerated aging, from the genes mutations discovery until therapeutic trials in affected children. A-type lamins are major actors in several structural and functional activities at the nuclear periphery, as they are major components of the nuclear lamina. However, while this is usually poorly considered, they also play a key role within the rest of the nucleoplasm, whose defects are related to cell senescence. Although nuclear shape and nuclear envelope deformities are obvious and visible events, nuclear matrix disorganization and abnormal composition certainly represent the most important causes of cell defects with dramatic pathological consequences. Therefore, lamin-associated diseases should be better referred as laminopathies instead of envelopathies, this later being too restrictive, considering neither the key structural and functional roles of soluble lamins in the entire nucleoplasm, nor the nuclear matrix contribution to the pathophysiology of lamin-associated disorders and in particular in defective lamin A processing-associated aging diseases. Based on both our understanding of pathophysiological mechanisms and the biological and clinical consequences of progeria and related diseases, therapeutic trials have been conducted in patients and were terminated less than 10 years after the gene discovery, a quite fast issue for a genetic disease. Pharmacological drugs have been repurposed and used to decrease the toxicity of the accumulated, unprocessed and truncated prelaminA in progeria. To date, none of them may be considered as a cure for progeria and these clinical strategies were essentially designed toward reducing a subset of the most dramatic and morbid features

  5. Evasion of p53 and G2/M checkpoints are characteristic of Hh-driven basal cell carcinoma.

    Science.gov (United States)

    Li, Z J; Mack, S C; Mak, T H; Angers, S; Taylor, M D; Hui, C-C

    2014-05-15

    Basal cell carcinoma (BCC), the most common type of cancer, is characterized by aberrant Hedgehog (Hh) pathway activity. Mutations in pathway components, such as PATCHED1 (PTCH1), are commonly found in BCC. While the tumor suppressor role of PTCH1 in BCC is well established, how Hh pathway activation disrupts normal skin homeostasis to promote BCC formationremains poorly understood. Like Ptc1, Sufu is a major negative regulator of the Hh pathway. Previously, we showed that inactivation of Sufu in the skin does not result in BCC formation. Why loss of Ptc1, but not Sufu, in the epidermis induces BCC formation is unclear. In this report, we utilized gene expression profiling to identify biological pathways and processes that distinguish Sufu from Ptc1 mutants, and discovered a novel role for Sufu in cell cycle regulation. We demonstrated that the Hh pathway activation inSufu and Ptc1 mutant skin is associated with abnormal cell cycle entry, ectopic expression of D-type cyclins and increasedDNA damage. However, despite the presence of DNA damage, p53 stabilization was impaired in the mutant skin. Alternative mechanism to halt genomic instability is the activation of G2/M cell cycle checkpoint, which can occur independent of p53. We found that while Ptc1 mutant cells continue to cycle, which would favor genomic instability, loss of Sufu results in G2/M cell cycle arrest.This finding may explain why inactivation of Sufu is not sufficient to drive BCC formation. Taken together, these studies revealed a unique role for Sufu in G2/M phase progression, and uncovered the molecular and cellular features associated with Hh-driven BCC.

  6. CENTIMETER CONTINUUM OBSERVATIONS OF THE NORTHERN HEAD OF THE HH 80/81/80N JET: REVISING THE ACTUAL DIMENSIONS OF A PARSEC-SCALE JET

    Energy Technology Data Exchange (ETDEWEB)

    Masque, Josep M.; Estalella, Robert [Departament d' Astronomia i Meteorologia, Universitat de Barcelona, Marti i Franques 1, E-08028 Barcelona, Catalunya (Spain); Girart, Josep M. [Institut de Ciencies de l' Espai, (CSIC-IEEC), Campus UAB, Facultat de Ciencies, Torre C5-parell 2, E-08193 Bellaterra, Catalunya (Spain); Rodriguez, Luis F. [Centro de Radioastronomia y Astrofisica, Universidad Nacional Autonoma de Mexico, Apartado Postal 3-72, 58090 Morelia, Michoacan (Mexico); Beltran, Maria T. [INAF-Osservatorio Astrofisico di Arcetri, Largo E. Fermi 5, I-50125 Firenze (Italy)

    2012-10-10

    We present 6 and 20 cm Jansky Very Large Array/Very Large Array observations of the northern head of the HH 80/81/80N jet, one of the largest collimated jet systems known so far, aimed to look for knots farther than HH 80N, the northern head of the jet. Aligned with the jet and 10' northeast of HH 80N, we found a radio source not reported before, with a negative spectral index similar to that of HH 80, HH 81, and HH 80N. The fit of a precessing jet model to the knots of the HH 80/81/80N jet, including the new source, shows that the position of this source is close to the jet path resulting from the modeling. If the new source belongs to the HH 80/81/80N jet, its derived size and dynamical age are 18.4 pc and >9 Multiplication-Sign 10{sup 3} yr, respectively. If the jet is symmetric, its southern lobe would expand beyond the cloud edge resulting in an asymmetric appearance of the jet. Based on the updated dynamical age, we speculate on the possibility that the HH 80/81/80N jet triggered the star formation observed in a dense core found ahead of HH 80N, which shows signposts of interaction with the jet. These results indicate that parsec-scale radio jets can play a role in the stability of dense clumps and the regulation of star formation in the molecular cloud.

  7. New cosmic rays experiments in the underground laboratory of IFIN-HH from Slanic Prahova, Romania

    Science.gov (United States)

    Mitrica, Bogdan; Stanca, Denis; Brancus, Iliana; Margineanu, Romul; Blebea-Apostu, Ana-Maria; Gomoiu, Claudia; Saftoiu, Alexandra; Toma, Gabriel; Rebel, Heinigerd; Haungs, Andreas; Sima, Octavian; Gherghel-Lascu, Alexandru; Niculescu-Oglinzanu, Mihai

    2015-02-01

    Since 2006 a modern laboratory has been developed by IFIN-HH in the underground of Slanic Prahova salt ore. This work presents a short review of previous scientific activities performed in the underground laboratory, in parallel with some plans for the future. A mobile detector for cosmic muon flux measurements has been set up at IFIN-HH, Romania. The device is used to measure the muon flux on different locations at the surface and underground and it consists of two detection layers, each one including four large scintillator plates. A new rotatable detector for measurements of the directional variation of the muon flux has been designed and it is presently under preliminary tests. Built from four layers of sensitive material and using for collecting the signals and directing them to the micro PMTs a new technique, through optical fibers instead wave length shifters, it allows an easy discrimination of the moun flux on the arrival directions of muons. Combining the possibility to rotate and the directionality properties, the underground muon detector is acting like a muon tomography device, being able to scan, using cosmic muons, the rock material above the detector. In parallel new detection system based on SiPM will be also installed in the following weeks. It should be composed by four layers, each layer consisting in 4 scintillator plates what we consider in the following as a module of detection. For this purpose, first two scintillator layers, with the optical fibers positioned on perpendicular directions are put in coincidence with other two layers, 1 m distance from the first two, with similar optical fiber arrangement, thus allowing reconstructing muon trajectory. It is intended also to design and construct an experimental device for the investigation of such radio antennas and the behavior of the signal in rock salt at the Slanic salt mine in Romania. Another method to detect high energy neutrinos is based on the detection of secondary particles resulting

  8. New cosmic rays experiments in the underground laboratory of IFIN-HH from Slanic Prahova, Romania

    Energy Technology Data Exchange (ETDEWEB)

    Mitrica, Bogdan; Stanca, Denis; Brancus, Iliana; Margineanu, Romul; Blebea-Apostu, Ana-Maria; Gomoiu, Claudia; Saftoiu, Alexandra; Toma, Gabriel; Gherghel-Lascu, Alexandru; Niculescu-Oglinzanu, Mihai [Horia Hulubei National Institute of Physics and Nuclear Engineering - IFIN HH, P.O.B. MG-6, Bucharest (Romania); Rebel, Heinigerd; Haungs, Andreas [Institute of Experimental Nuclear Physics, Karlsruhe Institute of Technology-Campus North, 76021 Karlsruhe (Germany); Sima, Octavian [Department of Physics, University of Bucharest, 077125 Magurele (Romania)

    2015-02-24

    Since 2006 a modern laboratory has been developed by IFIN-HH in the underground of Slanic Prahova salt ore. This work presents a short review of previous scientific activities performed in the underground laboratory, in parallel with some plans for the future. A mobile detector for cosmic muon flux measurements has been set up at IFIN-HH, Romania. The device is used to measure the muon flux on different locations at the surface and underground and it consists of two detection layers, each one including four large scintillator plates. A new rotatable detector for measurements of the directional variation of the muon flux has been designed and it is presently under preliminary tests. Built from four layers of sensitive material and using for collecting the signals and directing them to the micro PMTs a new technique, through optical fibers instead wave length shifters, it allows an easy discrimination of the moun flux on the arrival directions of muons. Combining the possibility to rotate and the directionality properties, the underground muon detector is acting like a muon tomography device, being able to scan, using cosmic muons, the rock material above the detector. In parallel new detection system based on SiPM will be also installed in the following weeks. It should be composed by four layers, each layer consisting in 4 scintillator plates what we consider in the following as a module of detection. For this purpose, first two scintillator layers, with the optical fibers positioned on perpendicular directions are put in coincidence with other two layers, 1 m distance from the first two, with similar optical fiber arrangement, thus allowing reconstructing muon trajectory. It is intended also to design and construct an experimental device for the investigation of such radio antennas and the behavior of the signal in rock salt at the Slanic salt mine in Romania. Another method to detect high energy neutrinos is based on the detection of secondary particles resulting

  9. Logical modelling of the role of the Hh pathway in the patterning of the Drosophila wing disc.

    Science.gov (United States)

    González, Aitor; Chaouiya, Claudine; Thieffry, Denis

    2008-08-15

    The development of most tissues and organs relies on a limited number of signal transduction pathways enabling the coordination of cellular differentiation. A proper understanding of the roles of signal transduction pathways requires the definition of formal models capturing the main qualitative features of these patterning processes. This is a challenging task because the underlying processes, diffusion, regulatory modifications, reception and sequestration of signalling molecules, transcriptional regulation of target genes, etc. are only partly characterized. In this context, qualitative models can be more readily proposed on the basis of available (molecular) genetic data. But this requires novel computational tools and proper qualitative representations of phenomena such as diffusion or sequestration. To assess the power and limits of a logical formalism in this context, we propose a multi-level model of the multi-cellular network involved in the definition of the anterior-posterior boundary during the development of the wing disc of Drosophila melanogaster. The morphogen Hedgehog (Hh) is the inter-cellular signal coordinating this process. It diffuses from the posterior compartment of the disc to activate its pathway in cells immediately anterior to the boundary. In these boundary cells, the Hh gradient induces target genes in distinct domains as a function of the Hh concentration. One target of Hh signalling is the gene coding for the receptor Patched (Ptc), which sequesters Hh and impedes further diffusion, thereby refining the boundary. We have delineated a logical model of the patterning process defining the cellular anterior-posterior boundary in the developing imaginal disc of Drosophila melanogaster. This model qualitatively accounts for the formation of a gradient of Hh, as well as for the transduction of this signal through a balance between the activatory (CiA) and inhibitory (CiR) products of the gene cubitus interruptus (ci). Wild-type and mutant

  10. An upregulation in the expression of vanilloid transient potential channels 2 enhances hypotonicity-induced cytosolic Ca²⁺ rise in human induced pluripotent stem cell model of Hutchinson-Gillford Progeria.

    Directory of Open Access Journals (Sweden)

    Chun-Yin Lo

    Full Text Available Hutchinson-Gillford Progeria Syndrome (HGPS is a fatal genetic disorder characterized by premature aging in multiple organs including the skin, musculoskeletal and cardiovascular systems. It is believed that an increased mechanosensitivity of HGPS cells is a causative factor for vascular cell death and vascular diseases in HGPS patients. However, the exact mechanism is unknown. Transient receptor potential (TRP channels are cationic channels that can act as cellular sensors for mechanical stimuli. The aim of this present study was to examine the expression and functional role of TRP channels in human induced pluripotent stem cell-derived endothelial cells (iPSC-ECs from the patients with HGPS. The mRNA and protein expression of TRP channels in HGPS and control (IMR90 iPSC-ECs were examined by semi-quantitative RT-PCRs and immunoblots, respectively. Hypotonicity-induced cytosolic Ca²⁺ ([Ca²⁺](i rise in iPSC-ECs was measured by confocal microscopy. RT-PCRs and immunoblots showed higher expressional levels of TRPV2 in iPSC-ECs from HGPS patients than those from normal individuals. In functional studies, hypotonicity induced a transient [Ca²⁺](i rise in iPSC-ECs from normal individuals but a sustained [Ca²⁺](i elevation in iPSC-ECs from HGPS patients. A nonselective TRPV inhibitor, ruthenium red (RuR, 20 µM, and a specific TRPV2 channel inhibitor, tranilast (100 µM, abolished the sustained phase of hypotonicity-induced [Ca²⁺](i rise in iPSC-ECs from HGPS patients, and also markedly attenuated the transient phase of the [Ca²⁺](i rise in these cells. Importantly, a short 10 min hypotonicity treatment caused a substantial increase in caspase 8 activity in iPSC-ECs from HGPS patients but not in cells from normal individuals. Tranilast could also inhibit the hypotonicity-induced increase in caspase 8 activity. Taken together, our data suggest that an up-regulation in TRPV2 expression causes a sustained [Ca²⁺](i elevation in HGPS

  11. Dorsoventral patterning of the Xenopus eye involves differential temporal changes in the response of optic stalk and retinal progenitors to Hh signalling.

    Science.gov (United States)

    Wang, Xiumei; Lupo, Giuseppe; He, Rongqiao; Barsacchi, Giuseppina; Harris, William A; Liu, Ying

    2015-03-20

    Hedgehog (Hh) signals are instrumental to the dorsoventral patterning of the vertebrate eye, promoting optic stalk and ventral retinal fates and repressing dorsal retinal identity. There has been limited analysis, however, of the critical window during which Hh molecules control eye polarity and of the temporal changes in the responsiveness of eye cells to these signals. In this study, we used pharmacological and molecular tools to perform stage-specific manipulations of Hh signalling in the developing Xenopus eye. In gain-of-function experiments, most of the eye was sensitive to ventralization when the Hh pathway was activated starting from gastrula/neurula stages. During optic vesicle stages, the dorsal eye became resistant to Hh-dependent ventralization, but this pathway could partially upregulate optic stalk markers within the retina. In loss-of-function assays, inhibition of Hh signalling starting from neurula stages caused expansion of the dorsal retina at the expense of the ventral retina and the optic stalk, while the effects of Hh inhibition during optic vesicle stages were limited to the reduction of optic stalk size. Our results suggest the existence of two competence windows during which the Hh pathway differentially controls patterning of the eye region. In the first window, between the neural plate and the optic vesicle stages, Hh signalling exerts a global influence on eye dorsoventral polarity, contributing to the specification of optic stalk, ventral retina and dorsal retinal domains. In the second window, between optic vesicle and optic cup stages, this pathway plays a more limited role in the maintenance of the optic stalk domain. We speculate that this temporal regulation is important to coordinate dorsoventral patterning with morphogenesis and differentiation processes during eye development.

  12. IRAS observations near young objects with bipolar outflows L1551 and HH 46-47

    Science.gov (United States)

    Emerson, J. P.; Harris, S.; Jennings, R. E.; Beichman, C. A.; Baud, B.; Beintema, D. A.; Wesselius, P. R.; Marsden, P. L.

    1984-01-01

    A 6-solar luminosity dust-embedded precursor of a low-mass (about 1 solar mass) pre-main-sequence star has been discovered with IRAS near the northeast lobe of the bipolar outflow region in the dust cloud L1551 and designated L1551 NE. Star formation is proceeding in at least two locations in L1551, reminiscent of the situation in regions of more massive star formation. If the position of NE in the flow from IRS 5 is indicative of the flow having initiated star formation in NE, then the object can be only about 24,000 years old. Alternatively, NE could appear by chance to lie in the flow from IRS 5. In the globule ES 0210-6A, a 12 solar luminosity dust-embedded precursor of a low-mass (about 1 solar mass) pre-main-sequence star is found which drives the bipolar flow responsible for the string of Herbig-Haro objects HH 46-47 A-D. In this globule, there is only one region of active star formation.

  13. A rotating protostellar jet launched from the innermost disk of HH 212

    Science.gov (United States)

    Lee, Chin-Fei; Ho, Paul. T. P.; Li, Zhi-Yun; Hirano, Naomi; Zhang, Qizhou; Shang, Hsien

    2017-07-01

    The central problem in forming a star is the angular momentum in the circumstellar disk, which prevents material from falling into the central stellar core. An attractive solution to the angular momentum problem appears to be the ubiquitous (low-velocity and poorly collimated) molecular outflows and (high-velocity and highly collimated) protostellar jets accompanying the earliest phase of star formation that remove angular momentum at a range of disk radii1. Previous observations have suggested that outflowing material carries away the excess angular momentum via magneto-centrifugally driven winds from the surfaces of circumstellar disks down to ˜10 au scales2,3,4,5,6, allowing the material in the outer disk to be transported to the inner disk. Here we show that highly collimated protostellar jets remove the residual angular momenta at the ˜0.05 au scale, enabling the material in the innermost region of the disk to accrete towards the central protostar. This is supported by the rotation of the jet measured down to ˜10 au from the protostar in the HH 212 protostellar system. The measurement implies a jet launching radius of ˜0.05-0.02+0.05 au on the disk, based on the magneto-centrifugal theory of jet production, which connects the properties of the jet measured at large distances with those at its base through energy and angular momentum conservation7.

  14. Multisite interaction with Sufu regulates Ci/Gli activity through distinct mechanisms in Hh signal transduction.

    Science.gov (United States)

    Han, Yuhong; Shi, Qing; Jiang, Jin

    2015-05-19

    The tumor suppressor protein Suppressor of fused (Sufu) plays a conserved role in the Hedgehog (Hh) signaling pathway by inhibiting Cubitus interruptus (Ci)/Glioma-associated oncogene homolog (Gli) transcription factors, but the molecular mechanism by which Sufu inhibits Ci/Gli activity remains poorly understood. Here we show that Sufu can bind Ci/Gli through a C-terminal Sufu-interacting site (SIC) in addition to a previously identified N-terminal site (SIN), and that both SIC and SIN are required for optimal inhibition of Ci/Gli by Sufu. We show that Sufu can sequester Ci/Gli in the cytoplasm through binding to SIN while inhibiting Ci/Gli activity in the nucleus depending on SIC. We also find that binding of Sufu to SIC and the middle region of Ci can impede recruitment of the transcriptional coactivator CBP by masking its binding site in the C-terminal region of Ci. Indeed, moving the CBP-binding site to an "exposed" location can render Ci resistant to Sufu-mediated inhibition in the nucleus. Hence, our study identifies a previously unidentified and conserved Sufu-binding motif in the C-terminal region of Ci/Gli and provides mechanistic insight into how Sufu inhibits Ci/Gli activity in the nucleus.

  15. The Study of RS Graviton to HH at 13 TeV

    CERN Document Server

    Bendicio, Alvin Kristopher

    2013-01-01

    We studied the simulated production of a Randall-Sundrum graviton decaying to Higgs bosons in proton-proton collisions at a center of mass of 13 TeV. Partons inside the protons interact to produce the RS graviton G*, which then undergoes the decay G* -> HH. The process was simulated using PYTHIA8 to generate events, with the FastJet 3 framework to find hadronic jets in the reaction products. Quantities such as the transverse momentum, pseudorapidity, azimuthal angle and the invariant mass of the first two jets from the simulation were compared through histograms made using ROOT. The cross section of the process was observed using different values of the coupling of the graviton. It was found out that the relation of these two quantities is parabolic. Also, ratios of N-subjettiness of the jets were calculated to distinguish the events where the jets come from the processes in Quantum Chromodynamics (QCD) from the events where the jets come Extra Dimensions (ED) processes.

  16. RESOLVING THE CIRCUMSTELLAR DISK AROUND THE MASSIVE PROTOSTAR DRIVING THE HH 80-81 JET

    Energy Technology Data Exchange (ETDEWEB)

    Carrasco-Gonzalez, Carlos [Max-Planck-Institut fuer Radioastronomie (MPIfR), Auf dem Huegel 69, 53121 Bonn (Germany); Galvan-Madrid, Roberto [European Southern Observatory, Karl-Schwarzschild-Str. 2, 85748 Garching (Germany); Anglada, Guillem; Osorio, Mayra [Instituto de Astrofisica de Andalucia, CSIC, Camino Bajo de Huetor 50, E-18008 Granada (Spain); D' Alessio, Paola; Rodriguez, Luis F. [Centro de Radioastronomia y Astrofisica UNAM, Apartado Postal 3-72 (Xangari), 58089 Morelia, Michoacan (Mexico); Hofner, Peter [Physics Department, New Mexico Tech, 801 Leroy Pl., Socorro, NM 87801 (United States); Linz, Hendrik [Max-Planck-Institut fuer Astronomie (MPIA), Koenigstuhl 17, 69117 Heidelberg (Germany); Araya, Esteban D., E-mail: carrasco@mpifr-bonn.mpg.de [Physics Department, Western Illinois University, 1 University Circle, Macomb, IL 61455 (United States)

    2012-06-20

    We present new high angular resolution observations toward the driving source of the HH 80-81 jet (IRAS 18162-2048). Continuum emission was observed with the Very Large Array at 7 mm and 1.3 cm, and with the Submillimeter Array at 860 {mu}m, with angular resolutions of {approx}0.''1 and {approx}0.''8, respectively. Submillimeter observations of the sulfur oxide (SO) molecule are reported as well. At 1.3 cm the emission traces the well-known radio jet, while at 7 mm the continuum morphology is quadrupolar and seems to be produced by a combination of free-free and dust emission. An elongated structure perpendicular to the jet remains in the 7 mm image after subtraction of the free-free contribution. This structure is interpreted as a compact accretion disk of {approx}200 AU radius. Our interpretation is favored by the presence of rotation in our SO observations observed at larger scales. The observations presented here add to the small list of cases where the hundred-AU scale emission from a circumstellar disk around a massive protostar has been resolved.

  17. MULTI-COMPONENT ANALYSIS OF POSITION-VELOCITY CUBES OF THE HH 34 JET

    Energy Technology Data Exchange (ETDEWEB)

    Rodriguez-Gonzalez, A.; Esquivel, A.; Raga, A. C. [Instituto de Ciencias Nucleares, Universidad Nacional Autonoma de Mexico, Ap. 70-543, 04510 DF (Mexico); Canto, J.; Curiel, S. [Instituto de Astronomia, Universidad Nacional Autonoma de Mexico, Ap. 70-264, 04510 DF (Mexico); Riera, A. [Departamento de Fisica e Ingenieria Nuclear, Escuela Universitaria de Ingenieria Tecnica Industrial de Barcelona, Universidad Politecnica de Cataluna, C. Comte Urgell 187, 08036, Barcelona (Spain); Beck, T. L., E-mail: ary@nucleares.unam.mx [Space Telescope Science Institute, 3700 San Martin Drive, Baltimore, MD 21218 (United States)

    2012-03-15

    We present an analysis of H{alpha} spectra of the HH 34 jet with two-dimensional spectral resolution. We carry out multi-Gaussian fits to the spatially resolved line profiles and derive maps of the intensity, radial velocity, and velocity width of each of the components. We find that close to the outflow source we have three components: a high (negative) radial velocity component with a well-collimated, jet-like morphology; an intermediate velocity component with a broader morphology; and a positive radial velocity component with a non-collimated morphology and large linewidth. We suggest that this positive velocity component is associated with jet emission scattered in stationary dust present in the circumstellar environment. Farther away from the outflow source, we find only two components (a high, negative radial velocity component, which has a narrower spatial distribution than an intermediate velocity component). The fitting procedure was carried out with the new AGA-V1 code, which is available online and is described in detail in this paper.

  18. Wiedemann-Rautenstrauch (neonatal progeroid) syndrome: new case with normal telomere length in skin fibroblasts.

    Science.gov (United States)

    Korniszewski, L; Nowak, R; Oknińska-Hoffmann, E; Skórka, A; Gieruszczak-Białek, D; Sawadro-Rochowska, M

    2001-10-01

    Wiedemann-Rautenstrauch (neonatal progeroid) syndrome is an autosomal recessive condition with characteristic appearance of premature aging present at birth (aged face, natal teeth, and wrinkled skin). Other features of the syndrome are generalized lipoatrophy with specific fat accumulation in the lateral suprabuttock region, hypotrichosis, macrocephaly (pseudohydrocephalus), and mental retardation. We report on a new case that demonstrates all typical features of the syndrome. The girl is now 16 years and 10 months old and has had follow-up from birth. We measured terminal restriction fragment (TRF) length to evaluate whether the patient's premature aging process is accompanied by shortening of telomere length in her cultured fibroblasts. Mean TRF of 13.5 kb found in our patient's fibroblasts is not shortened as compared to that of normal fibroblasts. Our results differ from those observed in Hutchinson-Gilford progeria. Copyright 2001 Wiley-Liss, Inc.

  19. Você conhece esta síndrome? Do you know this syndrome?

    Directory of Open Access Journals (Sweden)

    Josie da Costa Eiras

    2011-02-01

    Full Text Available A Síndrome de Huntchinson-Gilford (Progeria é uma rara doença autossômica dominante, caracterizada pelo envelhecimento precoce. Relata-se caso de uma criança, que aos 6 meses iniciou alopecia na região occipital e placas esclerodermiformes no abdome. Esta síndrome apresenta alterações em vários órgãos e sistemas como a pele, esquelético e sistema cardiovascular. O diagnóstico é clínico e não possui tratamento, porém seu reconhecimento é necessário para minimizar a aterosclerose precoce através do controle da dislipidemia.Huntchinson-Gilford Syndrome (Progeria is a rare autosomal dominant disease characterized by premature aging. It is reported the case of child whose alopecia started at the age of 6 months on the occipital region. The child also presented scleroderma plaques on the abdomen. This syndrome presents alterations in many organs and systems such as the skin and the skeletal and cardiovascular systems. The diagnosis is clinical and there is no treatment for it but recognition is necessary to minimize early atherosclerosis through the control of dyslipidemia.

  20. Simulation of L-band and HH microwave backscattering from coniferous forest stands - A comparison with SIR-B data

    Science.gov (United States)

    Sun, Guo-Qing; Simonett, David S.

    1988-01-01

    SIR-B images of the Mt. Shasta region of northern California are used to evaluate a composite L-band HH backscattering model of coniferous forest stands. It is found that both SIR-B and simulated backscattering coefficients for eight stands studied have similar trends and relations to average tree height and average number of trees per pixel. Also, the dispersion and distribution of simulated backscattering coefficients from each stand broadly match SIR-B data from the same stand. Although the limited quality and quantity of experimental data makes it difficult to draw any strong conclusions, the comparisons indicate that a stand-based L-band HH composite model seems promising for explaining backscattering features.

  1. Assessment of Snow Status Changes Using L-HH Temporal-Coherence Components at Mt. Dagu, China

    OpenAIRE

    Yong Wang; Lei Wang; Hong Li; Yuanyuan Yang; Taoli Yang

    2015-01-01

    Multitemporal Phased Array type L-band Synthetic Aperture Radar (PALSAR) horizontally transmitted and horizontally received (HH) coherence data was decomposed into temporal-coherence, spatial-coherence, and thermal noise components. The multitemporal data spanned between February and May of 2008, and consisted of two pairs of interferometric SAR (InSAR) images formed by consecutive repeat passes. With the analysis of ancillary data, a snow increase process and a snow decrease process were det...

  2. X-RAY EMISSION FROM STELLAR JETS BY COLLISION AGAINST HIGH-DENSITY MOLECULAR CLOUDS: AN APPLICATION TO HH 248

    Energy Technology Data Exchange (ETDEWEB)

    López-Santiago, J.; Ustamujic, S.; Castro, A. I. Gómez de [S. D. Astronomía y Geodesia, Facultad de Ciencias Matemáticas, Universidad Complutense de Madrid, E-28040 Madrid (Spain); Bonito, R.; Orlando, S. [Dipartimento di Fisica e Chimica, Università di Palermo, Piazza del Parlamento 1, I-90134 Palermo (Italy); Orellana, M. [Sede Andina de la Universidad Nacional de Río Negro (Argentina); Miceli, M. [INAF-Osservatorio Astronomico di Palermo, Piazza del Parlamento 1, I-90134 Palermo (Italy); Albacete-Colombo, J. F. [Sede Atlántica de la Universidad Nacional de Río Negro, Don Bosco y Leloir s/n, 8500 Viedma RN (Argentina); Castro, E. de [Dpto. de Astrofísica y CC. de la Atmósfera, Facultad de Física, Universidad Complutense de Madrid, E-28040 Madrid (Spain)

    2015-06-10

    We investigate the plausibility of detecting X-ray emission from a stellar jet that impacts a dense molecular cloud, a scenario that may be typical for classical T Tauri stars with jets in dense star-forming complexes. We first model the impact of a jet against a dense cloud using two-dimensional axisymmetric hydrodynamic simulations, exploring different configurations of the ambient environment. Then, we compare our results with XMM-Newton observations of the Herbig–Haro object HH 248, where extended X-ray emission aligned with the optical knots is detected at the edge of the nearby IC 434 cloud. Our simulations show that a jet can produce plasma with temperatures up to 10{sup 7} K, consistent with production of X-ray emission, after impacting a dense cloud. We find that jets denser than the ambient medium but less dense than the cloud produce detectable X-ray emission only at impact with the cloud. From an exploration of the model parameter space, we constrain the physical conditions (jet density and velocity and cloud density) that reproduce the intrinsic luminosity and emission measure of the X-ray source possibly associated with HH 248 well. Thus, we suggest that the extended X-ray source close to HH 248 corresponds to a jet impacting a dense cloud.

  3. Molecular and enzymatic characterization of a subfamily I.4 lipase from an edible oil-degrader Bacillus sp. HH-01.

    Science.gov (United States)

    Kamijo, Takashi; Saito, Akihiro; Ema, Sadaharu; Yoh, Inchi; Hayashi, Hiroko; Nagata, Ryo; Nagata, Yoshiho; Ando, Akikazu

    2011-02-01

    An edible-oil degrading bacterial strain HH-01 was isolated from oil plant gummy matter and was classified as a member of the genus Bacillus on the basis of the nucleotide sequence of the 16S rRNA gene. A putative lipase gene and its flanking regions were cloned from the strain based on its similarity to lipase genes from other Bacillus spp. The deduced product was composed of 214 amino acids and the putative mature protein, consisting of 182 amino acids, exhibited 82% amino acid sequence identity with the subfamily I.4 lipase LipA of Bacillus subtilis 168. The recombinant product was successfully overproduced as a soluble form in Escherichia coli and showed lipase activity. The gene was, therefore, designated as lipA of HH-01. HH-01 LipA was stable at pH 4-11 and up to 30°C, and its optimum pH and temperature were 8-9 and 30°C, respectively. The enzyme showed preferential hydrolysis of the 1(3)-position ester bond in trilinolein. The activity was, interestingly, enhanced by supplementing with 1 mM CoCl(2), in contrast to other Bacillus lipases. The lipA gene seemed to be constitutively transcribed during the exponential growth phase, regardless of the presence of edible oil.

  4. Socioeconomic effect of land grab on farming household (HH heads in Delta Central Agricultural Zone, Delta State, Nigeria

    Directory of Open Access Journals (Sweden)

    Albert Ukaro Ofuoku

    2017-06-01

    Full Text Available The study examined socioeconomic effects of land grab on farming HH heads in Delta Central Agricultural Zone of Delta State, Nigeria. Ten percent (10% of identified farming HH heads were involved in the study. Most (50.37% of the respondents had farms of the sizes of between 0.10 and 1.99ha with a mean farm size of 2.4ha. Their mean farm income was N400, 000. Most (84.44% of them were employed by the agricultural investors after their plots of land were grabbed; 52.59% had fair health status. Sizes of land grabbed from individual farmers ranged between 0.10 and 5.99ha. The lands grabbed were for plantation agricultural, and food crops production. Few of the land deals (24.44% were sealed with the involvement of the farmers and the investors and the farmers were adequately compensated. The results of the hypothesis showed that land grab had negative effects on farming HH heads’ socio-economic variables of farm size, farm income, employment status, health status and social status. It was recommended that land deals should involve the investors, government, community leaders and the land holders.

  5. Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.

    Science.gov (United States)

    Graul-Neumann, Luitgard M; Kienitz, Tina; Robinson, Peter N; Baasanjav, Sevjidmaa; Karow, Benjamin; Gillessen-Kaesbach, Gabriele; Fahsold, Raimund; Schmidt, Hartmut; Hoffmann, Katrin; Passarge, Eberhard

    2010-11-01

    We report on a 25-year-old woman with pronounced generalized lipodystrophy and a progeroid aspect since birth, who also had Marfan syndrome (MFS; fulfilling the Ghent criteria) with mild skeletal features, dilated aortic bulb, dural ectasia, bilateral subluxation of the lens, and severe myopia in addition to the severe generalized lipodystrophy. She lacked insulin resistance, hypertriglyceridemia, hepatic steatosis, and diabetes. Mutation analysis in the gene encoding fibrillin 1 (FBN1) revealed a novel de novo heterozygous deletion, c.8155_8156del2 in exon 64. The severe generalized lipodystrophy in this patient with progeroid features has not previously been described in other patients with MFS and FBN1 mutations. We did not find a mutation in genes known to be associated with congenital lipodystrophy (APGAT2, BSCL2, CAV1, PTRF-CAVIN, PPARG, LMNB2) or with Hutchinson-Gilford progeria (ZMPSTE24, LMNA/C). Other progeria syndromes were considered unlikely because premature greying, hypogonadism, and scleroderma-like skin disease were not present. Our patient shows striking similarity to two patients who have been published in this journal by O'Neill et al. [O'Neill et al. (2007); Am J Med Genet Part A 143A:1421-1430] with the diagnosis of neonatal progeroid syndrome (NPS). This condition also known as Wiedemann-Rautenstrauch syndrome is a rare disorder characterized by accelerated aging and lipodystrophy from birth, poor postnatal weight gain, and characteristic facial features. The course is usually progressive with early lethality. However this entity seems heterogeneous. We suggest that our patient and the two similar cases described before represent a new entity, a subgroup of MFS with overlapping features to NPS syndrome. © 2010 Wiley-Liss, Inc.

  6. Draft Whole-Genome Sequence of the Alkaliphilic Alishewanella aestuarii Strain HH-ZS, Isolated from Historical Lime Kiln Waste-Contaminated Soil

    OpenAIRE

    Salah, Zohier B.; Rout, Simon P.; Humphreys, Paul

    2016-01-01

    Here, we present the whole-genome sequence of an environmental Gram-negative Alishewanella aestuarii strain (HH-ZS), isolated\\ud from the hyperalkaline contaminated soil of a historical lime kiln in Buxton, United Kingdom.

  7. Formation and Atmosphere of Complex Organic Molecules of the HH 212 Protostellar Disk

    Science.gov (United States)

    Lee, Chin-Fei; Li, Zhi-Yun; Ho, Paul T. P.; Hirano, Naomi; Zhang, Qizhou; Shang, Hsien

    2017-07-01

    HH 212 is a nearby (400 pc) Class 0 protostellar system recently found to host a “hamburger”-shaped dusty disk with a radius of ˜60 au, deeply embedded in an infalling-rotating flattened envelope. We have spatially resolved this envelope-disk system with the Atacama Large Millimeter/submillimeter Array at up to ˜16 au (0.″04) resolution. The envelope is detected in HCO+ J = 4-3 down to the dusty disk. Complex organic molecules (COMs) and doubly deuterated formaldehyde (D2CO) are detected above and below the dusty disk within ˜40 au of the central protostar. The COMs are methanol (CH3OH), deuterated methanol (CH2DOH), methyl mercaptan (CH3SH), and formamide (NH2CHO, a prebiotic precursor). We have modeled the gas kinematics in HCO+ and COMs and found a centrifugal barrier (CB) at a radius of ˜44 au, within which a Keplerian rotating disk is formed. This indicates that HCO+ traces the infalling-rotating envelope down to the CB and COMs trace the atmosphere of a Keplerian rotating disk within the CB. The COMs are spatially resolved for the first time, both radially and vertically, in the atmosphere of a disk in the earliest, Class 0 phase of star formation. Our spatially resolved observations of COMs favor their formation in the disk rather than a rapidly infalling (warm) inner envelope. The abundances and spatial distributions of the COMs provide strong constraints on models of their formation and transport in low-mass star formation.

  8. Deuterated methanol on a solar system scale around the HH212 protostar

    Science.gov (United States)

    Bianchi, E.; Codella, C.; Ceccarelli, C.; Taquet, V.; Cabrit, S.; Bacciotti, F.; Bachiller, R.; Chapillon, E.; Gueth, F.; Gusdorf, A.; Lefloch, B.; Leurini, S.; Podio, L.; Rygl, K. L. J.; Tabone, B.; Tafalla, M.

    2017-10-01

    Context. Deuterium fractionation is a valuable tool for understanding the chemical evolution during the process that leads to the formation of a Sun-like planetary system. Aims: Methanol is thought to be mainly formed during the prestellar phase, and its deuterated form keeps a memory of the conditions at that epoch. The unique combination of high angular resolution and sensitivity provided by ALMA enables us to measure methanol deuteration in the planet formation region around a Class 0 protostar and to understand its origin. Methods: We mapped both the 13CH3OH and CH2DOH distribution in the inner regions ( 100 au) of the HH212 system in Orion B. To this end, we used ALMA Cycle 1 and Cycle 4 observations in Band 7 with angular resolution down to 0.̋15. Results: We detected 6 lines of 13CH3OH and 13 lines of CH2DOH with upper level energies of up to 438 K in temperature units. We derived a rotational temperature of (171 ± 52) K and column densities of 7 × 1016 cm-2 (13CH3OH) and 1 × 1017 cm-2 (CH2DOH), respectively. This yields a D/H ratio of (2.4 ± 0.4) × 10-2, which is lower by an order of magnitude than previously measured values using single-dish telescopes toward protostars located in Perseus. Our findings are consistent with the higher dust temperatures in Orion B with respect to the temperature derived for the Perseus cloud. The emission traces a rotating structure extending up to 45 au from the jet axis, which is elongated by 90 au along the jet axis. So far, the origin of the observed emission appears to be related with the accretion disc. Only higher spatial resolution measurements will be able to distinguish between different possible scenarios, however: disc wind, disc atmosphere, or accretion shocks.

  9. Formation and Atmosphere of Complex Organic Molecules of the HH 212 Protostellar Disk

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Chin-Fei; Ho, Paul T. P.; Hirano, Naomi; Shang, Hsien [Academia Sinica Institute of Astronomy and Astrophysics, P.O. Box 23-141, Taipei 106, Taiwan (China); Li, Zhi-Yun [Astronomy Department, University of Virginia, Charlottesville, VA 22904 (United States); Zhang, Qizhou, E-mail: cflee@asiaa.sinica.edu.tw [Harvard-Smithsonian Center for Astrophysics, 60 Garden Street, Cambridge, MA 02138 (United States)

    2017-07-01

    HH 212 is a nearby (400 pc) Class 0 protostellar system recently found to host a “hamburger”-shaped dusty disk with a radius of ∼60 au, deeply embedded in an infalling-rotating flattened envelope. We have spatially resolved this envelope-disk system with the Atacama Large Millimeter/submillimeter Array at up to ∼16 au (0.″04) resolution. The envelope is detected in HCO{sup +} J = 4–3 down to the dusty disk. Complex organic molecules (COMs) and doubly deuterated formaldehyde (D{sub 2}CO) are detected above and below the dusty disk within ∼40 au of the central protostar. The COMs are methanol (CH{sub 3}OH), deuterated methanol (CH{sub 2}DOH), methyl mercaptan (CH{sub 3}SH), and formamide (NH{sub 2}CHO, a prebiotic precursor). We have modeled the gas kinematics in HCO{sup +} and COMs and found a centrifugal barrier (CB) at a radius of ∼44 au, within which a Keplerian rotating disk is formed. This indicates that HCO{sup +} traces the infalling-rotating envelope down to the CB and COMs trace the atmosphere of a Keplerian rotating disk within the CB. The COMs are spatially resolved for the first time, both radially and vertically, in the atmosphere of a disk in the earliest, Class 0 phase of star formation. Our spatially resolved observations of COMs favor their formation in the disk rather than a rapidly infalling (warm) inner envelope. The abundances and spatial distributions of the COMs provide strong constraints on models of their formation and transport in low-mass star formation.

  10. Simultaneous Overexpression of the HhERF2 and PeDREB2a Genes Enhanced Tolerances to Salt and Drought in Transgenic Cotton.

    Science.gov (United States)

    Li, Jin Bo; Ni Dong, Xue; Lei, Zhi; Liang Li, Yong; Yang Yang, Pei; Tao, Fei; Zhao, Liang; Li, Shi-Gang; Du, Lin Feng; Shao, Ji Rong; Wu, Yan Min

    2016-01-01

    A desert-grown Halimodendron halodendron ethylene-responsive element binding factor gene (HhERF2), which encodes a 245 amino acids protein containing a conserved AP2/EREBP domain, was isolated through the rapid amplification cDNA end (RACE) method. Sequence and phylogenetic analysis indicated that HhERF2 was classified into the B-2 group of ERF subfamily. Semiquantitative RT-PCR showed that HhERF2 was greatly induced by treatments with high-salt, drought and low temperature in H. halodendron seedlings. The expression vector containing HhERF2 and Populus euphratica dehydration- responsive element binding protein (PeDREB2a) genes driven by rd29A promoter was constructed and transferred into cotton (Gossypium hirsutum L.) by non-tissue culture Agrobacterium-mediated genetic transformation system. The transformation and expression of HhERF2 and PeDREB2a were identified by PCR and RT-PCR. Analyses of physiological function indicated that transgenic cottons had improved seeds germination, tolerance to drought and highsalt stresses. Agronomic evaluation in the field exhibited that transgenic lines presented a dwarf phenotype and improved further in the yield and characters. These results demonstrated that overexpressed both HhERF2 and PeDREB2a transcription factor genes in cotton induced elevated tolerance to drought and high-salt stresses.

  11. Progeria Research Foundation, Inc.

    Science.gov (United States)

    ... Find The Other 150 Kids Video Gallery In Memory Of Life According To Sam Awards & Reviews Buy & ... 2018 in Boston MA: Night of Wonder 2018: Music to your ears! Learn More College Diabetes Network ...

  12. Progeria 101/FAQ

    Science.gov (United States)

    ... growth failure, loss of body fat and hair, aged-looking skin and stiffness of joints. As children get older, they suffer from osteoporosis, generalized atherosclerosis, cardiovascular (heart) disease and stroke. The ...

  13. Learning about Progeria

    Science.gov (United States)

    ... and Projects Grant Information NIH Common Fund NIH RePORTER Research at NHGRI An Overview Branches Clinical Research ... use of high-throughput screening technology to identify chemical compounds that might reverse nuclear membrane abnormalities of ...

  14. First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure.

    Science.gov (United States)

    Jaspers, Nicolaas G J; Raams, Anja; Silengo, Margherita Cirillo; Wijgers, Nils; Niedernhofer, Laura J; Robinson, Andria Rasile; Giglia-Mari, Giuseppina; Hoogstraten, Deborah; Kleijer, Wim J; Hoeijmakers, Jan H J; Vermeulen, Wim

    2007-03-01

    Nucleotide excision repair (NER) is a genome caretaker mechanism responsible for removing helix-distorting DNA lesions, most notably ultraviolet photodimers. Inherited defects in NER result in profound photosensitivity and the cancer-prone syndrome xeroderma pigmentosum (XP) or two progeroid syndromes: Cockayne and trichothiodystrophy syndromes. The heterodimer ERCC1-XPF is one of two endonucleases required for NER. Mutations in XPF are associated with mild XP and rarely with progeria. Mutations in ERCC1 have not been reported. Here, we describe the first case of human inherited ERCC1 deficiency. Patient cells showed moderate hypersensitivity to ultraviolet rays and mitomycin C, yet the clinical features were very severe and, unexpectedly, were compatible with a diagnosis of cerebro-oculo-facio-skeletal syndrome. This discovery represents a novel complementation group of patients with defective NER. Further, the clinical severity, coupled with a relatively mild repair defect, suggests novel functions for ERCC1.

  15. Proper Motions, Shear, Mass-Loss Rates and C-Shocks in the HH 7-11 Jet

    Science.gov (United States)

    Hartigan, Patrick

    2017-08-01

    We propose to obtain the first complete set of narrow band HST images of the iconic HH 7-11 protostellar jet. Owing to positional errors, both previous attempts to image the system failed to capture the HH 7 bow shock, arguably the best example we have of a well-resolved, strong shock in molecular gas. The proposed observations will tie together the optical and the IR emission in HH 7 and establish whether the molecular gas is heated by a continuous shock or a jump shock, physics of direct relevance to upcoming JWST observations of protostars. HST is needed to measure proper motions, to detect offsets between H-alpha and the forbidden lines that define the directions of shock propagation throughout the flow, and to resolve small scale structures present in the previous images. The portions of the jet imaged in 1995 and 1998 show several curious features, including two 'rings' that may result from the jet penetrating through preexisting sheets or filaments. I f this explanation is correct, the shocks in the rings will have expanded perpendicular to the axis of the jet by measurable amounts in the last 20 years. Any shear or entrainment along the jet will manifest itself as differential motions in the shocked gas. Our proposal employs a WFC3 quad filter to measure electron densities at each pixel. Combined with proper motion measurements, these observations will allow us to separate jet material from shocked gas along the cavity, observe dynamical instabilities if they exist behind the shock, and assess the accuracy of simple mass loss calculations that depend solely upon integrated line luminosities.

  16. Theoretical study of dynamics for the abstraction reaction H' + HBr(v=0, j=0) --> H'H + Br.

    Science.gov (United States)

    Zhang, Wenqin; Cong, Shulin; Zhang, Cuihua; Xu, Xuesong; Chen, Maodu

    2009-04-23

    Theoretical studies of the dynamics of the abstraction reaction, H' + HBr (v=0,j=0) --> H'H + Br, have been performed with quasiclassical trajectory method (QCT) on a new ab initio potential energy surface (Y. Kurosaki and T. Takayanagi, private communication). The calculated QCT cross sections are in good agreement with earlier quantum wave packet results over most of the collision energy range from 0.1 to 2.6 eV, and the state-resolved rotational distributions of the product H'H molecule are quantitatively consistent with the experimental results. Comparisons of the QCT-calculated rotational-state-resolved cross sections on different potential energy surfaces show that the characteristics of the potential energy surface in the region far away from the minimum energy path have a large influence on the title abstraction reaction dynamics, and the indirect reactions that do not follow the minimum energy path have little influence on the differential cross sections (DCS). The DCSs are mainly governed by the direct reactions that do follow the minimum energy path, at both low and high collision energies. The degree of the rotational alignment of the product H'H molecule is strong at high collision energies, which means that the influence of the indirect reactions on the product rotational alignment is negligible, whereas the distribution of P(varphi(r)) is sensitive to the indirect reactions at high collision energies. With increasing collision energy, the polarization of the product rotational angular momentum decreases and the molecular rotation of the product prefers an in-plane reaction mechanism rather than the out-of-plane mechanism.

  17. Hemiconvulsion-hemiplegia-epilepsy syndrome: current understandings.

    Science.gov (United States)

    Auvin, Stéphane; Bellavoine, Vanina; Merdariu, Dana; Delanoë, Catherine; Elmaleh-Bergés, Monique; Gressens, Pierre; Boespflug-Tanguy, Odile

    2012-09-01

    Hemiconvulsion-Hemiplegia (HH) syndrome is an uncommon consequence of prolonged focal febrile convulsive seizures in infancy and early childhood. It is characterized by the occurrence of prolonged clonic seizures with unilateral predominance occurring in a child and followed by the development of hemiplegia. Neuroradiological studies showed unilateral edematous swelling of the epileptic hemisphere at the time of initial status epilepticus (SE). This acute phase is followed by characteristic cerebral hemiatrophy with subsequent appearance of epilepsy, so called Hemiconvulsion-Hemiplegia-Epilepsy (HHE) syndrome. The etiologies and the underlying mechanisms remain to be understood. Using a review of the literature, we summarized the data of the last 20 years. It appears that idiopathic HH/HHE syndrome is the most common reported form. The basic science data suggest that immature brain is relatively resistant to SE-induced cell injury. Several factors might contribute to the pathogenesis of HH/HHE syndrome: 1. prolonged febrile seizure in which inflammation may worsen the level of cell injury; 2. inflammation and prolonged ictal activity that act on blood-brain-barrier permeability; 3. predisposing factors facilitating prolonged seizure such as genetic factors or focal epileptogenic lesion. However, these factors cannot explain the elective involvement of an entire hemisphere. We draw new hypothesis that may explain the involvement of one hemisphere such as maturation of brain structure such as corpus callosum or genetic factors (CACNA1A gene) that are specifically discussed. An early diagnosis and a better understanding of the underlying mechanisms of HHE are needed to improve the outcome of this condition. Copyright © 2012 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  18. Increasing the dosage of progesterone (P) supplemention from the mid-luteal phase in women not attaining a mid-luteal homogeneous hyperechogenic (HH) pattern with sonography improves pregnancy rates (PRS) following frozen embryo transfer (ET).

    Science.gov (United States)

    Check, J H; Dietterich, C; Cohen, R; Choe, J K; Amui, J; Brasile, D

    2010-01-01

    To determine if a mid-luteal phase non-homogeneous hyperechogenic (HH) endometrial echo pattern may lower pregnancy rates following frozen embryo transfer and to determine if raising the dosage of progesterone improves pregnancy outcome. Women not attaining an HH pattern at the mid-luteal phase following estrogen-progesterone replacement were randomly given (or not) an increase in progesterone dosage. Increasing the progesterone dosage in those not attaining an HH pattern significantly improved the pregnancy rate relative to controls not attaining an HH pattern and showed a trend for higher pregnancy rates than those with an HH pattern. The mid-luteal phase echo pattern should be evaluated for a non-HH pattern so that an increase in progesterone dosage could be provided possibly resulting in higher pregnancy rates.

  19. The regulation of Hh/Gli1 signaling cascade involves Gsk3β- mediated mechanism in estrogen-derived endometrial hyperplasia.

    Science.gov (United States)

    Kaushal, Jyoti Bala; Sankhwar, Pushplata; Kumari, Suparna; Popli, Pooja; Shukla, Vinay; Hussain, Mohd Kamil; Hajela, Kanchan; Dwivedi, Anila

    2017-07-26

    The present study was undertaken to explore the functional involvement of Hh signaling and its regulatory mechanism in endometrial hyperplasia. Differential expression of Hh signaling molecules i.e., Ihh, Shh, Gli1 or Gsk3β was observed in endometrial hyperplasial (EH) cells as compared to normal endometrial cells. Estradiol induced the expression of Hh signaling molecules and attenuated the expression of Gsk3β whereas anti-estrogen (K1) or progestin (MPA) suppressed these effects in EH cells. Cyclopamine treatment or Gli1 siRNA knockdown suppressed the growth of EH cells and reduced the expression of proliferative markers. Estradiol also induced the nuclear translocation of Gli1 which was suppressed by both MPA and K1 in EH cells. While exploring non-canonical mechanism, LY-294002 (Gsk3β activator) caused a decrease in Gli1 expression indicating the involvement of Gsk3β in Gli1 regulation. Further, Gsk3β silencing promoted the expression and nuclear translocation of Gli1 demonstrating that Gsk3β serves as a negative kinase regulator of Gli1 in EH cells. Similar attenuation of Hh signaling molecules was observed in rats with uterine hyperplasia undergoing anti-estrogen treatment. The study suggested that Hh/Gli1 cascade (canonical pathway) as well as Gsk3β-Gli1 crosstalk (non-canonical pathway) play crucial role in estrogen-dependent cell proliferation in endometrial hyperplasia.

  20. Activation of the Hh pathway in periosteum-derived mesenchymal stem cells induces bone formation in vivo: implication for postnatal bone repair.

    Science.gov (United States)

    Wang, Qun; Huang, Chunlan; Zeng, Fanjie; Xue, Ming; Zhang, Xinping

    2010-12-01

    While the essential role of periosteum in cortical bone repair and regeneration is well established, the molecular pathways that control the early osteogenic and chondrogenic differentiation of periosteal stem/progenitor cells during repair processes are unclear. Using a murine segmental bone graft transplantation model, we isolated a population of early periosteum-callus-derived mesenchymal stem cells (PCDSCs) from the healing autograft periosteum. These cells express typical mesenchymal stem cell markers and are capable of differentiating into osteoblasts, adipocytes, and chondrocytes. Characterization of these cells demonstrated that activation of the hedgehog (Hh) pathway effectively promoted osteogenic and chondrogenic differentiation of PCDSCs in vitro and induced bone formation in vivo. To determine the role of the Hh pathway in adult bone repair, we deleted Smoothened (Smo), the receptor that transduces all Hh signals at the onset of bone autograft repair via a tamoxifen-inducible RosaCreER mouse model. We found that deletion of Smo markedly reduced osteogenic differentiation of isolated PCDSCs and further resulted in a near 50% reduction in periosteal bone callus formation at the cortical bone junction as determined by MicroCT and histomorphometric analyses. These data strongly suggest that the Hh pathway plays an important role in adult bone repair via enhancing differentiation of periosteal progenitors and that activation of the Hh pathway at the onset of healing could be beneficial for repair and regeneration.

  1. Hh-induced Smoothened conformational switch is mediated by differential phosphorylation at its C-terminal tail in a dose- and position-dependent manner.

    Science.gov (United States)

    Fan, Junkai; Liu, Yajuan; Jia, Jianhang

    2012-06-15

    The activation of Smoothened (Smo) requires phosphorylation at three clusters of Serine residues in Drosophila Hedgehog (Hh) signaling. However, the mechanism by which phosphorylation promotes Smo conformational change and subsequently activates Smo in response to Hh gradient remains unclear. Here, we show that the conformational states of Smo are determined by not only the amount but also the position of the negative charges provided by phosphorylation. By using a Smo phospho-specific antibody, we demonstrate that Smo is differentially phosphorylated at three clusters of serine residues in response to levels of Hh activity. Mutating the first cluster, compared to mutating the other clusters, impairs Smo activity more severely, whereas mutating the last cluster prohibits C-terminus dimerization. In addition, phosphorylation of the membrane proximal cluster promotes phosphorylation of the distal cluster. We propose a zipper-lock model in which the gradual phosphorylation at these clusters induces a gradual conformational change in the Smo cytoplasmic tail, which promotes the interaction between Smo and Costal2 (Cos2). Moreover, we show that Hh regulates both PKA and CK1 phosphorylation of Smo. Thus, the differential phosphorylation of Smo mediates the thresholds of Hh activity. Copyright © 2012 Elsevier Inc. All rights reserved.

  2. Loss of WNT-TCF addiction and enhancement of HH-GLI1 signalling define the metastatic transition of human colon carcinomas.

    Science.gov (United States)

    Varnat, Frédéric; Siegl-Cachedenier, Irene; Malerba, Monica; Gervaz, Pascal; Ruiz i Altaba, Ariel

    2010-11-01

    Previous studies demonstrate the initiation of colon cancers through deregulation of WNT-TCF signalling. An accepted but untested extension of this finding is that incurable metastatic colon carcinomas (CCs) universally remain WNT-TCF-dependent, prompting the search for WNT-TCF inhibitors. CCs and their stem cells also require Hedgehog (HH)-GLI1 activity, but how these pathways interact is unclear. Here we define coincident high-to-low WNT-TCF and low-to-high HH-GLI transitions in patient CCs, most strikingly in their CD133(+) stem cells, that mark the development of metastases. We find that enhanced HH-GLI mimics this transition, driving also an embryonic stem (ES)-like stemness signature and that GLI1 can be regulated by multiple CC oncogenes. The data support a model in which the metastatic transition involves the acquisition or enhancement of a more primitive ES-like phenotype, and the downregulation of the early WNT-TCF programme, driven by oncogene-regulated high GLI1 activity. Consistently, TCF blockade does not generally inhibit tumour growth; instead, it, like enhanced HH-GLI, promotes metastatic growth in vivo. Treatments for metastatic disease should therefore block HH-GLI1 but not WNT-TCF activities.

  3. Elemental classification of the tusks of dugong (Dugong dugong) by HH-XRF analysis and comparison with other species

    Science.gov (United States)

    Nganvongpanit, Korakot; Buddhachat, Kittisak; Piboon, Promporn; Euppayo, Thippaporn; Kaewmong, Patcharaporn; Cherdsukjai, Phaothep; Kittiwatanawong, Kongkiat; Thitaram, Chatchote

    2017-04-01

    The elemental composition was investigated and applied for identifying the sex and habitat of dugongs, in addition to distinguishing dugong tusks and teeth from other animal wildlife materials such as Asian elephant (Elephas maximus) tusks and tiger (Panthera tigris tigris) canine teeth. A total of 43 dugong tusks, 60 dugong teeth, 40 dolphin teeth, 1 whale tooth, 40 Asian elephant tusks and 20 tiger canine teeth were included in the study. Elemental analyses were conducted using a handheld X-ray fluorescence analyzer (HH-XRF). There was no significant difference in the elemental composition of male and female dugong tusks, whereas the overall accuracy for identifying habitat (the Andaman Sea and the Gulf of Thailand) was high (88.1%). Dolphin teeth were able to be correctly predicted 100% of the time. Furthermore, we demonstrated a discrepancy in elemental composition among dugong tusks, Asian elephant tusks and tiger canine teeth, and provided a high correct prediction rate among these species of 98.2%. Here, we demonstrate the feasible use of HH-XRF for preliminary species classification and habitat determination prior to using more advanced techniques such as molecular biology.

  4. Elemental classification of the tusks of dugong (Dugong dugong) by HH-XRF analysis and comparison with other species.

    Science.gov (United States)

    Nganvongpanit, Korakot; Buddhachat, Kittisak; Piboon, Promporn; Euppayo, Thippaporn; Kaewmong, Patcharaporn; Cherdsukjai, Phaothep; Kittiwatanawong, Kongkiat; Thitaram, Chatchote

    2017-04-07

    The elemental composition was investigated and applied for identifying the sex and habitat of dugongs, in addition to distinguishing dugong tusks and teeth from other animal wildlife materials such as Asian elephant (Elephas maximus) tusks and tiger (Panthera tigris tigris) canine teeth. A total of 43 dugong tusks, 60 dugong teeth, 40 dolphin teeth, 1 whale tooth, 40 Asian elephant tusks and 20 tiger canine teeth were included in the study. Elemental analyses were conducted using a handheld X-ray fluorescence analyzer (HH-XRF). There was no significant difference in the elemental composition of male and female dugong tusks, whereas the overall accuracy for identifying habitat (the Andaman Sea and the Gulf of Thailand) was high (88.1%). Dolphin teeth were able to be correctly predicted 100% of the time. Furthermore, we demonstrated a discrepancy in elemental composition among dugong tusks, Asian elephant tusks and tiger canine teeth, and provided a high correct prediction rate among these species of 98.2%. Here, we demonstrate the feasible use of HH-XRF for preliminary species classification and habitat determination prior to using more advanced techniques such as molecular biology.

  5. Crystal structure of the neutralizing Llama V(HH D7 and its mode of HIV-1 gp120 interaction.

    Directory of Open Access Journals (Sweden)

    Andreas Hinz

    2010-05-01

    Full Text Available HIV-1 entry into host cells is mediated by the sequential binding of the envelope glycoprotein gp120 to CD4 and a chemokine receptor. Antibodies binding to epitopes overlapping the CD4-binding site on gp120 are potent inhibitors of HIV entry, such as the llama heavy chain antibody fragment V(HH D7, which has cross-clade neutralizing properties and competes with CD4 and mAb b12 for high affinity binding to gp120. We report the crystal structure of the D7 V(HH at 1.5 A resolution, which reveals the molecular details of the complementarity determining regions (CDR and substantial flexibility of CDR3 that could facilitate an induced fit interaction with gp120. Structural comparison of CDRs from other CD4 binding site antibodies suggests diverse modes of interaction. Mutational analysis identified CDR3 as a key component of gp120 interaction as determined by surface plasmon resonance. A decrease in affinity is directly coupled to the neutralization efficiency since mutations that decrease gp120 interaction increase the IC50 required for HIV-1 IIIB neutralization. Thus the structural study identifies the long CDR3 of D7 as the key determinant of interaction and HIV-1 neutralization. Furthermore, our data confirm that the structural plasticity of gp120 can accommodate multiple modes of antibody binding within the CD4 binding site.

  6. New VLA Observations for the HH 1-2 Region: Evidence for Density Enhancements Moving Along the Axis of the VLA 1 Radio Jet

    Science.gov (United States)

    Noriega-Crespo, A.; Rodriguez, L.; Delgado, V.; Gomez, Y.; Reipurth, B.; Torrelles, J.; Raga, A.; Canto, J.

    1999-01-01

    Using the Very Large Array, we have carried out new, sensitive radio continuum observations at 6 and 3.6 cm of the HH 1-2 region. The comparison between the 6 cm maps made from data taken in 1986.2 and 1992.9 indicates that VLA 1, the exciting source of the HH 1-2 flow, has suffered a morphological change that is attributed to the motion of a symmetric pair of knots along the axis of the radio jet.

  7. Hypogonadotropic hypogonadism and metabolic syndrome: insights from the high-fat diet experimental rabbit animal model.

    Science.gov (United States)

    Morelli, Annamaria; Vignozzi, Linda; Maggi, Mario

    2016-06-01

    The etiology of metabolic syndrome (MetS) is complex and involves the interplay between environmental, lifestyle and genetic determinants. MetS in men can be associated with a biochemical pattern of partial hypogonadotropic hypogonadism (HH). A similar pattern has been noted in both men and women with a variety of acute illnesses and chronic diseases, and there is ongoing debate regarding whether this phenomenon might adaptive (e.g. diverting resources from reproduction into survival), or maladaptive (e.g. anemia, sarcopenia, osteopenia and fatigue of androgen-deficiency amplify and widen the adverse consequences of the original disease-trigger). In women with hypothalamic amenorrhea (HA-HH secondary to chronic bioenergetic deficit from dietary restriction and/or intensive exercise), a genetic link to congenital HH (CHH) was recently established; women carrying monoallelic CHH gene mutations will typically not develop CHH, but are significantly more susceptible to HA. However, the male reproductive axis seems to be more resistant to similar environmental insults. In contrast, MetS-associated HH (mHH) is specifically a male phenomenon; the reproductive phenotype of females with MetS tending instead towards hyperandrogenism, rather than hypogonadism. The underlying pathogenic mechanisms responsible for mHH have not been clearly identified and, as yet, there has been no investigation of a potential role for CHH mutation carriage in its etiology. Over the decades, the use of either genetic- or diet-induced obesity and/or MetS animal models has greatly helped to illuminate the complex etiology of metabolic dysregulation, but the strong relationship between obesity/MetS and mHH in males has been largely neglected, with little or no information about the regulation of reproductive function by metabolic factors under conditions of bioenergetic excess. However, the pathogenic link between MetS and HH in males has been recently investigated in an animal model of high fat

  8. Serotonin syndrome

    Science.gov (United States)

    Hyperserotonemia; Serotonergic syndrome; Serotonin toxicity; SSRI - serotonin syndrome; MAO - serotonin syndrome ... brain area. For example, you can develop this syndrome if you take migraine medicines called triptans together ...

  9. Whole-Genome Sequence of the Anaerobic Isosaccharinic Acid Degrading Isolate, Macellibacteroides fermentans Strain HH-ZS.

    Science.gov (United States)

    Rout, Simon P; Salah, Zohier B; Charles, Christopher J; Humphreys, Paul N

    2017-08-01

    The ability of micro-organisms to degrade isosaccharinic acids (ISAs) while tolerating hyperalkaline conditions is pivotal to our understanding of the biogeochemistry associated within these environs, but also in scenarios pertaining to the cementitious disposal of radioactive wastes. An alkalitolerant, ISA degrading micro-organism was isolated from the hyperalkaline soils resulting from lime depositions. Here, we report the first whole-genome sequence, ISA degradation profile and carbohydrate preoteome of a Macellibacteroides fermentans strain HH-ZS, 4.08 Mb in size, coding 3,241 proteins, 64 tRNA, and 1 rRNA. © The Author 2017. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution.

  10. Solvent determined conformation of gramicidin affects the ability of the peptide to induce hexagonal HH phase formation in dioleoylphosphatidylcholine model membranes

    NARCIS (Netherlands)

    Tournois, H.; Killian, J.A.; Urry, D.W.; Bokking, O.R.; Gier, J. de; Kruijff, B. de

    1987-01-01

    It is shown by 31P-NMR and small angle X-ray scattering that induction of an hexagonal HH phase in dioleoylphosphatidylcholine model membranes by external addition of gramicidin A′ depends on the solvent which is used to solubilize the peptide. Addition of gramicidin from dimethylsulfoxide or

  11. Draft Whole-Genome Sequence of the Alkaliphilic Alishewanella aestuarii Strain HH-ZS, Isolated from Historical Lime Kiln Waste-Contaminated Soil.

    Science.gov (United States)

    Salah, Zohier B; Rout, Simon P; Humphreys, Paul N

    2016-12-29

    Here, we present the whole-genome sequence of an environmental Gram-negative Alishewanella aestuarii strain (HH-ZS), isolated from the hyperalkaline contaminated soil of a historical lime kiln in Buxton, United Kingdom. Copyright © 2016 Salah et al.

  12. Brain vascular changes in Cockayne syndrome.

    Science.gov (United States)

    Hayashi, Masaharu; Miwa-Saito, Naho; Tanuma, Naoyuki; Kubota, Masaya

    2012-04-01

    Cockayne syndrome (CS) and xeroderma pigmentosum (XP) are caused by deficient nucleotide excision repair. CS is characterized by cachectic dwarfism, mental disability, microcephaly and progeria features. Neuropathological examination of CS patients reveals dysmyelination and basal ganglia calcification. In addition, arteriosclerosis in the brain and subdural hemorrhage have been reported in a few CS cases. Herein, we performed elastica van Gieson (EVG) staining and immunohistochemistry for collagen type IV, CD34 and aquaporin 4 to evaluate the brain vessels in autopsy cases of CS, XP group A (XP-A) and controls. Small arteries without arteriosclerosis in the subarachnoid space had increased in CS cases but not in either XP-A cases or controls. In addition, string vessels (twisted capillaries) in the cerebral white matter and increased density of CD34-immunoreactive vessels were observed in CS cases. Immunohistochemistry findings for aquaporin 4 indicated no pathological changes in either CS or XP-A cases. Hence, the increased subarachnoid artery space may have caused subdural hemorrhage. Since such vascular changes were not observed in XP-A cases, the increased density of vessels in CS cases was not caused by brain atrophy. Hence, brain vascular changes may be involved in neurological disturbances in CS. © 2011 Japanese Society of Neuropathology.

  13. The neonatal progeroid syndrome (Wiedemann-Rautenstrauch): a model for the study of human aging?

    Science.gov (United States)

    Arboleda, Gonzalo; Ramírez, Nelson; Arboleda, Humberto

    2007-10-01

    The Wiedemann-Rautenstrauch syndrome (WRS) characterises a premature aging syndrome in which several features of human aging are apparent at birth therefore allowing their grouping as a neonatal progeroid condition. This differentiates WRS from other progeroid entities such as Hutchinson-Gilford progeria syndrome (HGPS) in which characteristics of premature aging become apparent some time after birth. The etiology of WRS remains unknown. Some studies have observed an autosomal recessive mode of inheritance. Several studies analysing telomere length and lamin A gene have not revealed any alterations. However, mutations in LMNA have been reported in several other atypical progeroid syndromes. Based on these observations, several hypothesis could be withdrawn concerning the etiology of WRS. The study of genes associated with lamin A metabolism, such as Zmpste24, and the metabolic pathways associated with insulin, such as protein kinase B or AKT, are of particular interest. We believe that WRS characteristics indicate that discovery of the gene and the metabolic pathway associated with this syndrome will most likely lead to new knowledge about the physiopathology of human aging.

  14. Two Component Decomposition of Dual Polarimetric HH/VV SAR Data: Case Study for the Tundra Environment of the Mackenzie Delta Region, Canada

    Directory of Open Access Journals (Sweden)

    Tobias Ullmann

    2016-12-01

    Full Text Available This study investigates a two component decomposition technique for HH/VV-polarized PolSAR (Polarimetric Synthetic Aperture Radar data. The approach is a straight forward adaption of the Yamaguchi decomposition and decomposes the data into two scattering contributions: surface and double bounce under the assumption of a negligible vegetation scattering component in Tundra environments. The dependencies between the features of this two and the classical three component Yamaguchi decomposition were investigated for Radarsat-2 (quad and TerraSAR-X (HH/VV data for the Mackenzie Delta Region, Canada. In situ data on land cover were used to derive the scattering characteristics and to analyze the correlation among the PolSAR features. The double bounce and surface scattering features of the two and three component scattering model (derived from pseudo-HH/VV- and quad-polarized data showed similar scattering characteristics and positively correlated-R2 values of 0.60 (double bounce and 0.88 (surface scattering were observed. The presence of volume scattering led to differences between the features and these were minimized for land cover classes of low vegetation height that showed little volume scattering contribution. In terms of separability, the quad-polarized Radarsat-2 data offered the best separation of the examined tundra land cover types and will be best suited for the classification. This is anticipated as it represents the largest feature space of all tested ones. However; the classes “wetland” and “bare ground” showed clear positions in the feature spaces of the C- and X-Band HH/VV-polarized data and an accurate classification of these land cover types is promising. Among the possible dual-polarization modes of Radarsat-2 the HH/VV was found to be the favorable mode for the characterization of the aforementioned tundra land cover classes due to the coherent acquisition and the preserved co-pol. phase. Contrary, HH/HV-polarized and VV

  15. Straightforward measurement of individual (1)J(CH) and (2)J(HH) in diastereotopic CH(2) groups.

    Science.gov (United States)

    Saurí, Josep; Castañar, Laura; Nolis, Pau; Virgili, Albert; Parella, Teodor

    2014-05-01

    The C-H(A) cross-peak corresponding to a diastereotopic CHAHB methylene spin system exhibits a characteristic 1:0:1 multiplet pattern along the indirect dimension of a ω1-coupled HSQC spectrum. It is shown here that the use of the initial (13)C Boltzmann polarization instead of the regular INEPT-based (1)H Boltzmann polarization makes visible the central lines of this multiplet pattern. A spin-state-selective method is proposed for the efficient measurement of both (1)J(CHA) and (1)J(CHB) along the indirect dimension of a 2D spectrum as well as to the magnitude and the sign of the geminal (2)J(HAHB) coupling constant from the straightforward analysis of a single four-component E.COSY cross-peak. Additionally, the extraction of (1)J(CH) values for CH and CH3 multiplicities can be also performed from the same spectrum. The success of the method is also illustrated for the determination of residual dipolar (1)D(CH) and (2)D(HH) coupling constants in a small molecule weakly aligned in a PMMA swollen gel. Copyright © 2014 Elsevier Inc. All rights reserved.

  16. High variability of expression profiles of homeologous genes for Wnt, Hh, Notch, and Hippo signaling pathways in Xenopus laevis.

    Science.gov (United States)

    Michiue, Tatsuo; Yamamoto, Takayoshi; Yasuoka, Yuuri; Goto, Toshiyasu; Ikeda, Takafumi; Nagura, Kei; Nakayama, Takuya; Taira, Masanori; Kinoshita, Tsutomu

    2017-06-15

    Cell signaling pathways, such as Wnt, Hedgehog (Hh), Notch, and Hippo, are essential for embryogenesis, organogenesis, and tissue homeostasis. In this study, we analyzed 415 genes involved in these pathways in the allotetraploid frog, Xenopus laevis. Most genes are retained in two subgenomes called L and S (193 homeologous gene pairs and 29 singletons). This conservation rate of homeologs is much higher than that of all genes in the X. laevis genome (86.9% vs 60.2%). Among singletons, 24 genes are retained in the L subgenome, a rate similar to the average for all genes (82.8% vs 74.6%). In addition, as general components of signal transduction, we also analyzed 32 heparan sulfate proteoglycan (HSPG)-related genes and eight TLE/Groucho transcriptional corepressors-related genes. In these gene sets, all homeologous pairs have been retained. Transcriptome analysis using RNA-seq data from developmental stages and adult tissues demonstrated that most homeologous pairs of signaling components have variable expression patterns, in contrast to the conservative expression profiles of homeologs for transcription factors. Our results indicate that homeologous gene pairs for cell signaling regulation have tended to become subfunctionalized after allotetraploidization. Diversification of signaling pathways by subfunctionalization of homeologs may enhance environmental adaptability. These results provide insights into the evolution of signaling pathways after polyploidization. Copyright © 2017 Elsevier Inc. All rights reserved.

  17. Assessment of Snow Status Changes Using L-HH Temporal-Coherence Components at Mt. Dagu, China

    Directory of Open Access Journals (Sweden)

    Yong Wang

    2015-09-01

    Full Text Available Multitemporal Phased Array type L-band Synthetic Aperture Radar (PALSAR horizontally transmitted and horizontally received (HH coherence data was decomposed into temporal-coherence, spatial-coherence, and thermal noise components. The multitemporal data spanned between February and May of 2008, and consisted of two pairs of interferometric SAR (InSAR images formed by consecutive repeat passes. With the analysis of ancillary data, a snow increase process and a snow decrease process were determined. Then, the multiple temporal-coherence components were used to study the variation of thawing and freezing statuses of snow because the components can mostly reflect the temporal change of the snow that occurred between two data acquisitions. Compared with snow mapping results derived from optical images, the outcomes from the snow increase process and the snow decrease process reached an overall accuracy of 71.3% and 79.5%, respectively. Being capable of delineating not only the areas with or without snow cover but also status changes among no-snow, wet snow, and dry snow, we have developed a critical means to assess the water resource in alpine areas.

  18. Cushing syndrome

    Science.gov (United States)

    Hypercortisolism; Cortisol excess; Glucocorticoid excess - Cushing syndrome ... The most common cause of Cushing syndrome is taking too much ... called exogenous Cushing syndrome . Prednisone, dexamethasone, ...

  19. LncRNA-Hh Strengthen Cancer Stem Cells Generation in Twist-Positive Breast Cancer via Activation of Hedgehog Signaling Pathway.

    Science.gov (United States)

    Zhou, Mingli; Hou, Yixuan; Yang, Guanglun; Zhang, Hailong; Tu, Gang; Du, Yan-e; Wen, Siyang; Xu, Liyun; Tang, Xi; Tang, Shifu; Yang, Li; Cui, Xiaojiang; Liu, Manran

    2016-01-01

    Cancer stem cells (CSCs) are a subpopulation of neoplastic cells with self-renewal capacity and limitless proliferative potential as well as high invasion and migration capacity. These cells are commonly associated with epithelial-mesenchymal transition (EMT), which is also critical for tumor metastasis. Recent studies illustrate a direct link between EMT and stemness of cancer cells. Long non-coding RNAs (lncRNAs) have emerged as important new players in the regulation of multiple cellular processes in various diseases. To date, the role of lncRNAs in EMT-associated CSC stemness acquisition and maintenance remains unclear. In this study, we discovered that a set of lncRNAs were dysregulated in Twist-positive mammosphere cells using lncRNA microarray analysis. Multiple lncRNAs-associated canonical signaling pathways were identified via bioinformatics analysis. Especially, the Shh-GLI1 pathway associated lncRNA-Hh, transcriptionally regulated by Twist, directly targets GAS1 to stimulate the activation of hedgehog signaling (Hh). The activated Hh increases GLI1 expression, and enhances the expression of SOX2 and OCT4 to play a regulatory role in CSC maintenance. Thus, the mammosphere-formation efficiency (MFE) and the self-renewal capacity in vitro, and oncogenicity in vivo in Twist-positive breast cancer cells are elevated. lncRNA-Hh silence in Twist-positive breast cells attenuates the activated Shh-GLI1 signaling and decreases the CSC-associated SOX and OCT4 levels, thus reduces the MFE and tumorigenesis of transplanted tumor. Our results reveal that lncRNAs function as an important regulator endowing Twist-induced EMT cells to gain the CSC-like stemness properties. © 2015 The Authors STEM CELLS published by Wiley Periodicals, Inc. on behalf of AlphaMed Press.

  20. Developing a conceptual framework and a tool for measuring access to, and use of, medicines at household level (HH-ATM tool).

    Science.gov (United States)

    Yaghoubifard, S; Rashidian, A; Kebriaeezadeh, A; Majdzadeh, R; Hosseini, S A; Akbari Sari, A; Salamzadeh, J

    2015-05-01

    To develop a valid and reliable tool to evaluate access to, and use of, medicines at household level (HH-ATM tool). The Behavioral Model of Health Services Use was adapted and used as the conceptual framework for developing the HH-ATM tool. Questionnaires were designed (individual and household) based on the conceptual framework and existing tools, including items that captured the characteristics of predisposing, enabling and need factors; health care behaviours; outcomes and impacts. Face validity, content validity and test-retest reliability were assessed using inter-rater agreement, item and scale content validity indices, comprehensiveness indices, and intra-class correlation, kappa and weighted-kappa coefficients. The household and individual questionnaires demonstrated appropriate validity and reliability. The content validity of household questionnaire was favourable, with inter-rater agreement of 86% and 91% for relevance and clarity, respectively. Scale content validity indices for relevance and clarity were 89% and 91%, respectively, and comprehensiveness was scored at 100%. These indices were also favourable for the individual questionnaire, all scoring 94% or higher. The questionnaires showed excellent validity and reliability for use in Iran. The HH-ATM tool can be implemented to evaluate access to, and use of, medicines in Farsi-speaking communities, and may be useful in other communities if adapted appropriately. Copyright © 2015 The Royal Society for Public Health. Published by Elsevier Ltd. All rights reserved.

  1. Duane Syndrome

    Science.gov (United States)

    ... Frequently Asked Questions Español Condiciones Chinese Conditions Duane Syndrome En Español Read in Chinese What is Duane Syndrome? Duane syndrome, also called Duane retraction syndrome (DRS), ...

  2. Fanconi syndrome

    Science.gov (United States)

    De Toni-Fanconi syndrome ... Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown. Common causes of Fanconi syndrome in ...

  3. Hamartomatous polyposis syndromes

    DEFF Research Database (Denmark)

    Jelsig, Anne Marie; Qvist, Niels; Brusgaard, Klaus

    2014-01-01

    Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as ...

  4. Subpart HH Training Presentations

    Science.gov (United States)

    EPA has produced the following training presentation(s) for reporters subject to this subpart. Generally, these presentations explain the rule or show how to use the reporting system e-GGRT to submit annual GHG reports to EPA.

  5. High resolution HH-XRF scanning and XRD modelling as a tool in sedimentological analysis - A case study from the Enreca-3 core, Bach Long Vi Island, Vietnam

    Science.gov (United States)

    Rizzi, Malgorzata; Hemmingsen Schovsbo, Niels; Korte, Christoph; Bryld Wessel Fyhn, Michael

    2017-04-01

    To improve the understanding and interpretation of the depositional environment of a late Oligocene lacustrine organic rich oil-prone source rock succession, 2464 hand held (HH)-XRF measurements were made systematically on the 500 m long, continuous core from the fully cored Enreca-3 well. This core, drilled on the remote Bach Long Vi Island, northern Gulf of Tonkin, offshore Vietnam, represents a deep lake succession alternating between lacustrine pelagic dominated sediments interrupted by hyperpycnal turbidites, high density turbidites and debris flows [1, 2]. From a combined HH-XRF-XRD data set, multivariate data analysis and regression models are used to type the rock and to predict the XRD mineral composition based on HH-XRF composition. The rock types and the modelled mineral composition highlight the geochemical variations of the sediment and allows for direct comparison with sedimentological processes and facies changes. The modeling also depicts the cyclic alteration of rock types that are present on many different scales ranging from centimeters to hundreds of meters [1, 2]. The sedimentological and geochemical variations observed throughout the cored section reflects fluctuating paleoclimate, tectonism and hinterland condition controlling the depositional setting, which may provide a deeper understanding of the deposition of this and similar Paleogene syn-rift succession in the South China Sea region. It allows furthermore the development of a more generalized depositional model relevant for other deep-lacustrine syn-rift basins. [1] Petersen et al. (2014) Journal of Petroleum Geology, 37: 373-389. [2] Hovikoski et al. (2016) Journal of Sedimentary Research, 86(8): 982-1007.

  6. Study of the physics potential of the FCC-hh machine to measure the coupling of the Higgs boson to b quarks

    CERN Document Server

    Rodríguez, Arturo

    2016-01-01

    The FCC project as well as the Pythia + Delphes analysis within the FCC software are introduced. The ROOT analysis carried out to reconstruct main observables, such the invariant mass of the bb system, transverse mass and momentum of the W boson together with the lepton pT and distribution is explained. The resulting reconstructed invariant mass of the bb system showed a peak near the 125 GeV in correspondence with the Higgs boson. Future steps towards estimating the physics potential of the FCC-hh machine in this channel are discussed.

  7. A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Damien Galant

    2016-04-01

    Full Text Available ZMPSTE24 encodes the only metalloprotease, which transforms prelamin into mature lamin A. Up to now, mutations in ZMPSTE24 have been linked to Restrictive Dermopathy (RD, Progeria or Mandibulo-Acral Dysplasia (MAD. We report here the phenotype of a patient referred for severe metabolic syndrome and cardiomyopathy, carrying a mutation in ZMPSTE24. The patient presented with a partial lipodystrophic syndrome associating hypertriglyceridemia, early onset type 2 diabetes, and android obesity with truncal and abdominal fat accumulation but without subcutaneous lipoatrophy. Other clinical features included acanthosis nigricans, liver steatosis, dilated cardiomyopathy, and high myocardial and hepatic triglycerides content. Mutated fibroblasts from the patient showed increased nuclear shape abnormalities and premature senescence as demonstrated by a decreased Population Doubling Level, an increased beta-galactosidase activity and a decreased BrdU incorporation rate. Reduced prelamin A expression by siRNA targeted toward LMNA transcripts resulted in decreased nuclear anomalies. We show here that a central obesity without subcutaneous lipoatrophy is associated with a laminopathy due to a heterozygous missense mutation in ZMPSTE24. Given the high prevalence of metabolic syndrome and android obesity in the general population, and in the absence of familial study, the causative link between mutation and phenotype cannot be formally established. Nevertheless, altered lamina architecture observed in mutated fibroblasts are responsible for premature cellular senescence and could contribute to the phenotype observed in this patient.

  8. A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy.

    Science.gov (United States)

    Galant, Damien; Gaborit, Bénédicte; Desgrouas, Camille; Abdesselam, Ines; Bernard, Monique; Levy, Nicolas; Merono, Françoise; Coirault, Catherine; Roll, Patrice; Lagarde, Arnaud; Bonello-Palot, Nathalie; Bourgeois, Patrice; Dutour, Anne; Badens, Catherine

    2016-04-25

    ZMPSTE24 encodes the only metalloprotease, which transforms prelamin into mature lamin A. Up to now, mutations in ZMPSTE24 have been linked to Restrictive Dermopathy (RD), Progeria or Mandibulo-Acral Dysplasia (MAD). We report here the phenotype of a patient referred for severe metabolic syndrome and cardiomyopathy, carrying a mutation in ZMPSTE24. The patient presented with a partial lipodystrophic syndrome associating hypertriglyceridemia, early onset type 2 diabetes, and android obesity with truncal and abdominal fat accumulation but without subcutaneous lipoatrophy. Other clinical features included acanthosis nigricans, liver steatosis, dilated cardiomyopathy, and high myocardial and hepatic triglycerides content. Mutated fibroblasts from the patient showed increased nuclear shape abnormalities and premature senescence as demonstrated by a decreased Population Doubling Level, an increased beta-galactosidase activity and a decreased BrdU incorporation rate. Reduced prelamin A expression by siRNA targeted toward LMNA transcripts resulted in decreased nuclear anomalies. We show here that a central obesity without subcutaneous lipoatrophy is associated with a laminopathy due to a heterozygous missense mutation in ZMPSTE24. Given the high prevalence of metabolic syndrome and android obesity in the general population, and in the absence of familial study, the causative link between mutation and phenotype cannot be formally established. Nevertheless, altered lamina architecture observed in mutated fibroblasts are responsible for premature cellular senescence and could contribute to the phenotype observed in this patient.

  9. Williams syndrome

    Science.gov (United States)

    A support group can be helpful for emotional support and for giving and receiving practical advice. The following organization provides additional information about Williams Syndrome: Williams Syndrome Association -- www.williams-syndrome.org

  10. WIEDEMANN SYNDROME

    African Journals Online (AJOL)

    hi-tech

    BILATERAL BENIGN HAEMORRHAGIC ADRENAL CYSTS IN BECKWITH - WIEDEMANN. SYNDROME: CASE REPORT. P. ANOOP and M. A. ANJAY. SUMMARY. Beckwith-Wiedemann syndrome is the most common overgrowth malformation syndrome. The classical features include macrosomia, macroglossia, ...

  11. Marfan Syndrome

    Science.gov (United States)

    Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, ... A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, and ...

  12. Brown Syndrome

    Science.gov (United States)

    ... extraction) have also been linked to acquired Brown syndrome. Inflammation of the tendon-trochlea complex (from adult and juvenile rheumatoid arthritis, systemic lupus erythematosus and sinusitis) can be ... syndrome hereditary? Hereditary cases of Brown syndrome are rare. ...

  13. Asperger Syndrome

    Science.gov (United States)

    ... Page You are here Home » Disorders » All Disorders Asperger Syndrome Information Page Asperger Syndrome Information Page What research is being done? ... Definition Treatment Prognosis Clinical Trials Organizations Publications Definition Asperger syndrome (AS) is a developmental disorder. It is ...

  14. Cockayne syndrome: Clinical features, model systems and pathways.

    Science.gov (United States)

    Karikkineth, Ajoy C; Scheibye-Knudsen, Morten; Fivenson, Elayne; Croteau, Deborah L; Bohr, Vilhelm A

    2017-01-01

    Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average. It is an autosomal recessive disorder, with a prevalence of approximately 2.5 per million. There are several phenotypes (1-3) and two complementation groups (CSA and CSB), and CS overlaps with xeroderma pigmentosum (XP). It has been considered a progeria, and many of the clinical features resemble accelerated aging. As such, the study of CS affords an opportunity to better understand the underlying mechanisms of aging. The molecular basis of CS has traditionally been ascribed to defects in transcription and transcription-coupled nucleotide excision repair (TC-NER). However, recent work suggests that defects in base excision DNA repair and mitochondrial functions may also play key roles. This opens up the possibility for molecular interventions in CS, and by extrapolation, possibly in aging. Published by Elsevier B.V.

  15. Searches for Higgs boson pair production in the $hh\\to bb\\tau\\tau, \\gamma\\gamma WW*, \\gamma\\gamma bb, bbbb$ channels with the ATLAS detector

    CERN Document Server

    Aad, Georges; Abdallah, Jalal; Abdinov, Ovsat; Aben, Rosemarie; Abolins, Maris; AbouZeid, Ossama; Abramowicz, Halina; Abreu, Henso; Abreu, Ricardo; Abulaiti, Yiming; Acharya, Bobby Samir; Adamczyk, Leszek; Adams, David; Adelman, Jahred; Adomeit, Stefanie; Adye, Tim; Affolder, Tony; Agatonovic-Jovin, Tatjana; Agricola, Johannes; Aguilar-Saavedra, Juan Antonio; Ahlen, Steven; Ahmadov, Faig; Aielli, Giulio; Akerstedt, Henrik; Åkesson, Torsten Paul Ake; Akimov, Andrei; Alberghi, Gian Luigi; Albert, Justin; Albrand, Solveig; Alconada Verzini, Maria Josefina; Aleksa, Martin; Aleksandrov, Igor; Alexa, Calin; Alexander, Gideon; Alexopoulos, Theodoros; Alhroob, Muhammad; Alimonti, Gianluca; Alio, Lion; Alison, John; Alkire, Steven Patrick; Allbrooke, Benedict; Allport, Phillip; Aloisio, Alberto; Alonso, Alejandro; Alonso, Francisco; Alpigiani, Cristiano; Altheimer, Andrew David; Alvarez Gonzalez, Barbara; Άlvarez Piqueras, Damián; Alviggi, Mariagrazia; Amadio, Brian Thomas; Amako, Katsuya; Amaral Coutinho, Yara; Amelung, Christoph; Amidei, Dante; Amor Dos Santos, Susana Patricia; Amorim, Antonio; Amoroso, Simone; Amram, Nir; Amundsen, Glenn; Anastopoulos, Christos; Ancu, Lucian Stefan; Andari, Nansi; Andeen, Timothy; Anders, Christoph Falk; Anders, Gabriel; Anders, John Kenneth; Anderson, Kelby; Andreazza, Attilio; Andrei, George Victor; Angelidakis, Stylianos; Angelozzi, Ivan; Anger, Philipp; Angerami, Aaron; Anghinolfi, Francis; Anisenkov, Alexey; Anjos, Nuno; Annovi, Alberto; Antonelli, Mario; Antonov, Alexey; Antos, Jaroslav; Anulli, Fabio; Aoki, Masato; Aperio Bella, Ludovica; Arabidze, Giorgi; Arai, Yasuo; Araque, Juan Pedro; Arce, Ayana; Arduh, Francisco Anuar; Arguin, Jean-Francois; Argyropoulos, Spyridon; Arik, Metin; Armbruster, Aaron James; Arnaez, Olivier; Arnold, Hannah; Arratia, Miguel; Arslan, Ozan; Artamonov, Andrei; Artoni, Giacomo; Asai, Shoji; Asbah, Nedaa; Ashkenazi, Adi; Åsman, Barbro; Asquith, Lily; Assamagan, Ketevi; Astalos, Robert; Atkinson, Markus; Atlay, Naim Bora; Augsten, Kamil; Aurousseau, Mathieu; Avolio, Giuseppe; Axen, Bradley; Ayoub, Mohamad Kassem; Azuelos, Georges; Baak, Max; Baas, Alessandra; Baca, Matthew John; Bacci, Cesare; Bachacou, Henri; Bachas, Konstantinos; Backes, Moritz; Backhaus, Malte; Bagiacchi, Paolo; Bagnaia, Paolo; Bai, Yu; Bain, Travis; Baines, John; Baker, Oliver Keith; Baldin, Evgenii; Balek, Petr; Balestri, Thomas; Balli, Fabrice; Balunas, William Keaton; Banas, Elzbieta; Banerjee, Swagato; Bannoura, Arwa A E; Barak, Liron; Barberio, Elisabetta Luigia; Barberis, Dario; Barbero, Marlon; Barillari, Teresa; Barisonzi, Marcello; Barklow, Timothy; Barlow, Nick; Barnes, Sarah Louise; Barnett, Bruce; Barnett, Michael; Barnovska, Zuzana; Baroncelli, Antonio; Barone, Gaetano; Barr, Alan; Barreiro, Fernando; Barreiro Guimarães da Costa, João; Bartoldus, Rainer; Barton, Adam Edward; Bartos, Pavol; Basalaev, Artem; Bassalat, Ahmed; Basye, Austin; Bates, Richard; Batista, Santiago Juan; Batley, Richard; Battaglia, Marco; Bauce, Matteo; Bauer, Florian; Bawa, Harinder Singh; Beacham, James Baker; Beattie, Michael David; Beau, Tristan; Beauchemin, Pierre-Hugues; Beccherle, Roberto; Bechtle, Philip; Beck, Hans Peter; Becker, Kathrin; Becker, Maurice; Beckingham, Matthew; Becot, Cyril; Beddall, Andrew; Beddall, Ayda; Bednyakov, Vadim; Bee, Christopher; Beemster, Lars; Beermann, Thomas; Begel, Michael; Behr, Janna Katharina; Belanger-Champagne, Camille; Bell, William; Bella, Gideon; Bellagamba, Lorenzo; Bellerive, Alain; Bellomo, Massimiliano; Belotskiy, Konstantin; Beltramello, Olga; Benary, Odette; Benchekroun, Driss; Bender, Michael; Bendtz, Katarina; Benekos, Nektarios; Benhammou, Yan; Benhar Noccioli, Eleonora; Benitez Garcia, Jorge-Armando; Benjamin, Douglas; Bensinger, James; Bentvelsen, Stan; Beresford, Lydia; Beretta, Matteo; Berge, David; Bergeaas Kuutmann, Elin; Berger, Nicolas; Berghaus, Frank; Beringer, Jürg; Bernard, Clare; Bernard, Nathan Rogers; Bernius, Catrin; Bernlochner, Florian Urs; Berry, Tracey; Berta, Peter; Bertella, Claudia; Bertoli, Gabriele; Bertolucci, Federico; Bertsche, Carolyn; Bertsche, David; Besana, Maria Ilaria; Besjes, Geert-Jan; Bessidskaia Bylund, Olga; Bessner, Martin Florian; Besson, Nathalie; Betancourt, Christopher; Bethke, Siegfried; Bevan, Adrian John; Bhimji, Wahid; Bianchi, Riccardo-Maria; Bianchini, Louis; Bianco, Michele; Biebel, Otmar; Biedermann, Dustin; Bieniek, Stephen Paul; Biesuz, Nicolo Vladi; Biglietti, Michela; Bilbao De Mendizabal, Javier; Bilokon, Halina; Bindi, Marcello; Binet, Sebastien; Bingul, Ahmet; Bini, Cesare; Biondi, Silvia; Bjergaard, David Martin; Black, Curtis; Black, James; Black, Kevin; Blackburn, Daniel; Blair, Robert; Blanchard, Jean-Baptiste; Blanco, Jacobo Ezequiel; Blazek, Tomas; Bloch, Ingo; Blocker, Craig; Blum, Walter; Blumenschein, Ulrike; Blunier, Sylvain; Bobbink, Gerjan; Bobrovnikov, Victor; Bocchetta, Simona Serena; Bocci, Andrea; Bock, Christopher; Boehler, Michael; Bogaerts, Joannes Andreas; Bogavac, Danijela; Bogdanchikov, Alexander; Bohm, Christian; Boisvert, Veronique; Bold, Tomasz; Boldea, Venera; Boldyrev, Alexey; Bomben, Marco; Bona, Marcella; Boonekamp, Maarten; Borisov, Anatoly; Borissov, Guennadi; Borroni, Sara; Bortfeldt, Jonathan; Bortolotto, Valerio; Bos, Kors; Boscherini, Davide; Bosman, Martine; Boudreau, Joseph; Bouffard, Julian; Bouhova-Thacker, Evelina Vassileva; Boumediene, Djamel Eddine; Bourdarios, Claire; Bousson, Nicolas; Boutle, Sarah Kate; Boveia, Antonio; Boyd, James; Boyko, Igor; Bozic, Ivan; Bracinik, Juraj; Brandt, Andrew; Brandt, Gerhard; Brandt, Oleg; Bratzler, Uwe; Brau, Benjamin; Brau, James; Braun, Helmut; Breaden Madden, William Dmitri; Brendlinger, Kurt; Brennan, Amelia Jean; Brenner, Lydia; Brenner, Richard; Bressler, Shikma; Bristow, Timothy Michael; Britton, Dave; Britzger, Daniel; Brochu, Frederic; Brock, Ian; Brock, Raymond; Bronner, Johanna; Brooijmans, Gustaaf; Brooks, Timothy; Brooks, William; Brosamer, Jacquelyn; Brost, Elizabeth; Bruckman de Renstrom, Pawel; Bruncko, Dusan; Bruneliere, Renaud; Bruni, Alessia; Bruni, Graziano; Bruschi, Marco; Bruscino, Nello; Bryngemark, Lene; Buanes, Trygve; Buat, Quentin; Buchholz, Peter; Buckley, Andrew; Buda, Stelian Ioan; Budagov, Ioulian; Buehrer, Felix; Bugge, Lars; Bugge, Magnar Kopangen; Bulekov, Oleg; Bullock, Daniel; Burckhart, Helfried; Burdin, Sergey; Burgard, Carsten Daniel; Burghgrave, Blake; Burke, Stephen; Burmeister, Ingo; Busato, Emmanuel; Büscher, Daniel; Büscher, Volker; Bussey, Peter; Butler, John; Butt, Aatif Imtiaz; Buttar, Craig; Butterworth, Jonathan; Butti, Pierfrancesco; Buttinger, William; Buzatu, Adrian; Buzykaev, Aleksey; Cabrera Urbán, Susana; Caforio, Davide; Cairo, Valentina; Cakir, Orhan; Calace, Noemi; Calafiura, Paolo; Calandri, Alessandro; Calderini, Giovanni; Calfayan, Philippe; Caloba, Luiz; Calvet, David; Calvet, Samuel; Camacho Toro, Reina; Camarda, Stefano; Camarri, Paolo; Cameron, David; Caminal Armadans, Roger; Campana, Simone; Campanelli, Mario; Campoverde, Angel; Canale, Vincenzo; Canepa, Anadi; Cano Bret, Marc; Cantero, Josu; Cantrill, Robert; Cao, Tingting; Capeans Garrido, Maria Del Mar; Caprini, Irinel; Caprini, Mihai; Capua, Marcella; Caputo, Regina; Carbone, Ryne Michael; Cardarelli, Roberto; Cardillo, Fabio; Carli, Tancredi; Carlino, Gianpaolo; Carminati, Leonardo; Caron, Sascha; Carquin, Edson; Carrillo-Montoya, German D; Carter, Janet; Carvalho, João; Casadei, Diego; Casado, Maria Pilar; Casolino, Mirkoantonio; Castaneda-Miranda, Elizabeth; Castelli, Angelantonio; Castillo Gimenez, Victoria; Castro, Nuno Filipe; Catastini, Pierluigi; Catinaccio, Andrea; Catmore, James; Cattai, Ariella; Caudron, Julien; Cavaliere, Viviana; Cavalli, Donatella; Cavalli-Sforza, Matteo; Cavasinni, Vincenzo; Ceradini, Filippo; Cerio, Benjamin; Cerny, Karel; Cerqueira, Augusto Santiago; Cerri, Alessandro; Cerrito, Lucio; Cerutti, Fabio; Cerv, Matevz; Cervelli, Alberto; Cetin, Serkant Ali; Chafaq, Aziz; Chakraborty, Dhiman; Chalupkova, Ina; Chan, Yat Long; Chang, Philip; Chapman, John Derek; Charlton, Dave; Chau, Chav Chhiv; Chavez Barajas, Carlos Alberto; Cheatham, Susan; Chegwidden, Andrew; Chekanov, Sergei; Chekulaev, Sergey; Chelkov, Gueorgui; Chelstowska, Magda Anna; Chen, Chunhui; Chen, Hucheng; Chen, Karen; Chen, Liming; Chen, Shenjian; Chen, Shion; Chen, Xin; Chen, Ye; Cheng, Hok Chuen; Cheng, Yangyang; Cheplakov, Alexander; Cheremushkina, Evgenia; Cherkaoui El Moursli, Rajaa; Chernyatin, Valeriy; Cheu, Elliott; Chevalier, Laurent; Chiarella, Vitaliano; Chiarelli, Giorgio; Chiodini, Gabriele; Chisholm, Andrew; Chislett, Rebecca Thalatta; Chitan, Adrian; Chizhov, Mihail; Choi, Kyungeon; Chouridou, Sofia; Chow, Bonnie Kar Bo; Christodoulou, Valentinos; Chromek-Burckhart, Doris; Chudoba, Jiri; Chuinard, Annabelle Julia; Chwastowski, Janusz; Chytka, Ladislav; Ciapetti, Guido; Ciftci, Abbas Kenan; Cinca, Diane; Cindro, Vladimir; Cioara, Irina Antonela; Ciocio, Alessandra; Cirotto, Francesco; Citron, Zvi Hirsh; Ciubancan, Mihai; Clark, Allan G; Clark, Brian Lee; Clark, Philip James; Clarke, Robert; Clement, Christophe; Coadou, Yann; Cobal, Marina; Coccaro, Andrea; Cochran, James H; Coffey, Laurel; Cogan, Joshua Godfrey; Colasurdo, Luca; Cole, Brian; Cole, Stephen; Colijn, Auke-Pieter; Collot, Johann; Colombo, Tommaso; Compostella, Gabriele; Conde Muiño, Patricia; Coniavitis, Elias; Connell, Simon Henry; Connelly, Ian; Consorti, Valerio; Constantinescu, Serban; Conta, Claudio; Conti, Geraldine; Conventi, Francesco; Cooke, Mark; Cooper, Ben; Cooper-Sarkar, Amanda; Cornelissen, Thijs; Corradi, Massimo; Corriveau, Francois; Corso-Radu, Alina; Cortes-Gonzalez, Arely; Cortiana, Giorgio; Costa, Giuseppe; Costa, María José; Costanzo, Davide; Côté, David; Cottin, Giovanna; Cowan, Glen; Cox, Brian; Cranmer, Kyle; Cree, Graham; Crépé-Renaudin, Sabine; Crescioli, Francesco; Cribbs, Wayne Allen; Crispin Ortuzar, Mireia; Cristinziani, Markus; Croft, Vince; Crosetti, Giovanni; Cuhadar Donszelmann, Tulay; Cummings, Jane; Curatolo, Maria; Cúth, Jakub; Cuthbert, Cameron; Czirr, Hendrik; Czodrowski, Patrick; D'Auria, Saverio; D'Onofrio, Monica; Da Cunha Sargedas De Sousa, Mario Jose; Da Via, Cinzia; Dabrowski, Wladyslaw; Dafinca, Alexandru; Dai, Tiesheng; Dale, Orjan; Dallaire, Frederick; Dallapiccola, Carlo; Dam, Mogens; Dandoy, Jeffrey Rogers; Dang, Nguyen Phuong; Daniells, Andrew Christopher; Danninger, Matthias; Dano Hoffmann, Maria; Dao, Valerio; Darbo, Giovanni; Darmora, Smita; Dassoulas, James; Dattagupta, Aparajita; Davey, Will; David, Claire; Davidek, Tomas; Davies, Eleanor; Davies, Merlin; Davison, Peter; Davygora, Yuriy; Dawe, Edmund; Dawson, Ian; Daya-Ishmukhametova, Rozmin; De, Kaushik; de Asmundis, Riccardo; De Benedetti, Abraham; De Castro, Stefano; De Cecco, Sandro; De Groot, Nicolo; de Jong, Paul; De la Torre, Hector; De Lorenzi, Francesco; De Pedis, Daniele; De Salvo, Alessandro; De Sanctis, Umberto; De Santo, Antonella; De Vivie De Regie, Jean-Baptiste; Dearnaley, William James; Debbe, Ramiro; Debenedetti, Chiara; Dedovich, Dmitri; Deigaard, Ingrid; Del Peso, Jose; Del Prete, Tarcisio; Delgove, David; Deliot, Frederic; Delitzsch, Chris Malena; Deliyergiyev, Maksym; Dell'Acqua, Andrea; Dell'Asta, Lidia; Dell'Orso, Mauro; Della Pietra, Massimo; della Volpe, Domenico; Delmastro, Marco; Delsart, Pierre-Antoine; Deluca, Carolina; DeMarco, David; Demers, Sarah; Demichev, Mikhail; Demilly, Aurelien; Denisov, Sergey; Derendarz, Dominik; Derkaoui, Jamal Eddine; Derue, Frederic; Dervan, Paul; Desch, Klaus Kurt; Deterre, Cecile; Dette, Karola; Deviveiros, Pier-Olivier; Dewhurst, Alastair; Dhaliwal, Saminder; Di Ciaccio, Anna; Di Ciaccio, Lucia; Di Domenico, Antonio; Di Donato, Camilla; Di Girolamo, Alessandro; Di Girolamo, Beniamino; Di Mattia, Alessandro; Di Micco, Biagio; Di Nardo, Roberto; Di Simone, Andrea; Di Sipio, Riccardo; Di Valentino, David; Diaconu, Cristinel; Diamond, Miriam; Dias, Flavia; Diaz, Marco Aurelio; Diehl, Edward; Dietrich, Janet; Diglio, Sara; Dimitrievska, Aleksandra; Dingfelder, Jochen; Dita, Petre; Dita, Sanda; Dittus, Fridolin; Djama, Fares; Djobava, Tamar; Djuvsland, Julia Isabell; do Vale, Maria Aline Barros; Dobos, Daniel; Dobre, Monica; Doglioni, Caterina; Dohmae, Takeshi; Dolejsi, Jiri; Dolezal, Zdenek; Dolgoshein, Boris; Donadelli, Marisilvia; Donati, Simone; Dondero, Paolo; Donini, Julien; Dopke, Jens; Doria, Alessandra; Dova, Maria-Teresa; Doyle, Tony; Drechsler, Eric; Dris, Manolis; Dubreuil, Emmanuelle; Duchovni, Ehud; Duckeck, Guenter; Ducu, Otilia Anamaria; Duda, Dominik; Dudarev, Alexey; Duflot, Laurent; Duguid, Liam; Dührssen, Michael; Dunford, Monica; Duran Yildiz, Hatice; Düren, Michael; Durglishvili, Archil; Duschinger, Dirk; Dutta, Baishali; Dyndal, Mateusz; Eckardt, Christoph; Ecker, Katharina Maria; Edgar, Ryan Christopher; Edson, William; Edwards, Nicholas Charles; Ehrenfeld, Wolfgang; Eifert, Till; Eigen, Gerald; Einsweiler, Kevin; Ekelof, Tord; El Kacimi, Mohamed; Ellert, Mattias; Elles, Sabine; Ellinghaus, Frank; Elliot, Alison; Ellis, Nicolas; Elmsheuser, Johannes; Elsing, Markus; Emeliyanov, Dmitry; Enari, Yuji; Endner, Oliver Chris; Endo, Masaki; Erdmann, Johannes; Ereditato, Antonio; Ernis, Gunar; Ernst, Jesse; Ernst, Michael; Errede, Steven; Ertel, Eugen; Escalier, Marc; Esch, Hendrik; Escobar, Carlos; Esposito, Bellisario; Etienvre, Anne-Isabelle; Etzion, Erez; Evans, Hal; Ezhilov, Alexey; Fabbri, Laura; Facini, Gabriel; Fakhrutdinov, Rinat; Falciano, Speranza; Falla, Rebecca Jane; Faltova, Jana; Fang, Yaquan; Fanti, Marcello; Farbin, Amir; Farilla, Addolorata; Farooque, Trisha; Farrell, Steven; Farrington, Sinead; Farthouat, Philippe; Fassi, Farida; Fassnacht, Patrick; Fassouliotis, Dimitrios; Faucci Giannelli, Michele; Favareto, Andrea; Fayard, Louis; Fedin, Oleg; Fedorko, Wojciech; Feigl, Simon; Feligioni, Lorenzo; Feng, Cunfeng; Feng, Eric; Feng, Haolu; Fenyuk, Alexander; Feremenga, Last; Fernandez Martinez, Patricia; Fernandez Perez, Sonia; Ferrando, James; Ferrari, Arnaud; Ferrari, Pamela; Ferrari, Roberto; Ferreira de Lima, Danilo Enoque; Ferrer, Antonio; Ferrere, Didier; Ferretti, Claudio; Ferretto Parodi, Andrea; Fiascaris, Maria; Fiedler, Frank; Filipčič, Andrej; Filipuzzi, Marco; Filthaut, Frank; Fincke-Keeler, Margret; Finelli, Kevin Daniel; Fiolhais, Miguel; Fiorini, Luca; Firan, Ana; Fischer, Adam; Fischer, Cora; Fischer, Julia; Fisher, Wade Cameron; Flaschel, Nils; Fleck, Ivor; Fleischmann, Philipp; Fletcher, Gareth Thomas; Fletcher, Gregory; Fletcher, Rob Roy MacGregor; Flick, Tobias; Floderus, Anders; Flores Castillo, Luis; Flowerdew, Michael; Formica, Andrea; Forti, Alessandra; Fournier, Daniel; Fox, Harald; Fracchia, Silvia; Francavilla, Paolo; Franchini, Matteo; Francis, David; Franconi, Laura; Franklin, Melissa; Frate, Meghan; Fraternali, Marco; Freeborn, David; French, Sky; Friedrich, Felix; Froidevaux, Daniel; Frost, James; Fuchi, Ryosuke; Fukunaga, Chikara; Fullana Torregrosa, Esteban; Fulsom, Bryan Gregory; Fusayasu, Takahiro; Fuster, Juan; Gabaldon, Carolina; Gabizon, Ofir; Gabrielli, Alessandro; Gabrielli, Andrea; Gach, Grzegorz; Gadatsch, Stefan; Gadomski, Szymon; Gagliardi, Guido; Gagnon, Pauline; Galea, Cristina; Galhardo, Bruno; Gallas, Elizabeth; Gallop, Bruce; Gallus, Petr; Galster, Gorm Aske Gram Krohn; Gan, KK; Gao, Jun; Gao, Yanyan; Gao, Yongsheng; Garay Walls, Francisca; Garberson, Ford; García, Carmen; García Navarro, José Enrique; Garcia-Sciveres, Maurice; Gardner, Robert; Garelli, Nicoletta; Garonne, Vincent; Gatti, Claudio; Gaudiello, Andrea; Gaudio, Gabriella; Gaur, Bakul; Gauthier, Lea; Gauzzi, Paolo; Gavrilenko, Igor; Gay, Colin; Gaycken, Goetz; Gazis, Evangelos; Ge, Peng; Gecse, Zoltan; Gee, Norman; Geich-Gimbel, Christoph; Geisler, Manuel Patrice; Gemme, Claudia; Genest, Marie-Hélène; Gentile, Simonetta; George, Matthias; George, Simon; Gerbaudo, Davide; Gershon, Avi; Ghasemi, Sara; Ghazlane, Hamid; Giacobbe, Benedetto; Giagu, Stefano; Giangiobbe, Vincent; Giannetti, Paola; Gibbard, Bruce; Gibson, Stephen; Gignac, Matthew; Gilchriese, Murdock; Gillam, Thomas; Gillberg, Dag; Gilles, Geoffrey; Gingrich, Douglas; Giokaris, Nikos; Giordani, MarioPaolo; Giorgi, Filippo Maria; Giorgi, Francesco Michelangelo; Giraud, Pierre-Francois; Giromini, Paolo; Giugni, Danilo; Giuliani, Claudia; Giulini, Maddalena; Gjelsten, Børge Kile; Gkaitatzis, Stamatios; Gkialas, Ioannis; Gkougkousis, Evangelos Leonidas; Gladilin, Leonid; Glasman, Claudia; Glatzer, Julian; Glaysher, Paul; Glazov, Alexandre; Goblirsch-Kolb, Maximilian; Goddard, Jack Robert; Godlewski, Jan; Goldfarb, Steven; Golling, Tobias; Golubkov, Dmitry; Gomes, Agostinho; Gonçalo, Ricardo; Goncalves Pinto Firmino Da Costa, Joao; Gonella, Laura; González de la Hoz, Santiago; Gonzalez Parra, Garoe; Gonzalez-Sevilla, Sergio; Goossens, Luc; Gorbounov, Petr Andreevich; Gordon, Howard; Gorelov, Igor; Gorini, Benedetto; Gorini, Edoardo; Gorišek, Andrej; Gornicki, Edward; Goshaw, Alfred; Gössling, Claus; Gostkin, Mikhail Ivanovitch; Goujdami, Driss; Goussiou, Anna; Govender, Nicolin; Gozani, Eitan; Grabas, Herve Marie Xavier; Graber, Lars; Grabowska-Bold, Iwona; Gradin, Per Olov Joakim; Grafström, Per; Gramling, Johanna; Gramstad, Eirik; Grancagnolo, Sergio; Gratchev, Vadim; Gray, Heather; Graziani, Enrico; Greenwood, Zeno Dixon; Grefe, Christian; Gregersen, Kristian; Gregor, Ingrid-Maria; Grenier, Philippe; Griffiths, Justin; Grillo, Alexander; Grimm, Kathryn; Grinstein, Sebastian; Gris, Philippe Luc Yves; Grivaz, Jean-Francois; Grohs, Johannes Philipp; Grohsjean, Alexander; Gross, Eilam; Grosse-Knetter, Joern; Grossi, Giulio Cornelio; Grout, Zara Jane; Guan, Liang; Guenther, Jaroslav; Guescini, Francesco; Guest, Daniel; Gueta, Orel; Guido, Elisa; Guillemin, Thibault; Guindon, Stefan; Gul, Umar; Gumpert, Christian; Guo, Jun; Guo, Yicheng; Gupta, Shaun; Gustavino, Giuliano; Gutierrez, Phillip; Gutierrez Ortiz, Nicolas Gilberto; Gutschow, Christian; Guyot, Claude; Gwenlan, Claire; Gwilliam, Carl; Haas, Andy; Haber, Carl; Hadavand, Haleh Khani; Haddad, Nacim; Haefner, Petra; Hageböck, Stephan; Hajduk, Zbigniew; Hakobyan, Hrachya; Haleem, Mahsana; Haley, Joseph; Hall, David; Halladjian, Garabed; Hallewell, Gregory David; Hamacher, Klaus; Hamal, Petr; Hamano, Kenji; Hamilton, Andrew; Hamity, Guillermo Nicolas; Hamnett, Phillip George; Han, Liang; Hanagaki, Kazunori; Hanawa, Keita; Hance, Michael; Haney, Bijan; Hanke, Paul; Hanna, Remie; Hansen, Jørgen Beck; Hansen, Jorn Dines; Hansen, Maike Christina; Hansen, Peter Henrik; Hara, Kazuhiko; Hard, Andrew; Harenberg, Torsten; Hariri, Faten; Harkusha, Siarhei; Harrington, Robert; Harrison, Paul Fraser; Hartjes, Fred; Hasegawa, Makoto; Hasegawa, Yoji; Hasib, A; Hassani, Samira; Haug, Sigve; Hauser, Reiner; Hauswald, Lorenz; Havranek, Miroslav; Hawkes, Christopher; Hawkings, Richard John; Hawkins, Anthony David; Hayashi, Takayasu; Hayden, Daniel; Hays, Chris; Hays, Jonathan Michael; Hayward, Helen; Haywood, Stephen; Head, Simon; Heck, Tobias; Hedberg, Vincent; Heelan, Louise; Heim, Sarah; Heim, Timon; Heinemann, Beate; Heinrich, Lukas; Hejbal, Jiri; Helary, Louis; Hellman, Sten; Hellmich, Dennis; Helsens, Clement; Henderson, James; Henderson, Robert; Heng, Yang; Hengler, Christopher; Henkelmann, Steffen; Henrichs, Anna; Henriques Correia, Ana Maria; Henrot-Versille, Sophie; Herbert, Geoffrey Henry; Hernández Jiménez, Yesenia; Herten, Gregor; Hertenberger, Ralf; Hervas, Luis; Hesketh, Gavin Grant; Hessey, Nigel; Hetherly, Jeffrey Wayne; Hickling, Robert; Higón-Rodriguez, Emilio; Hill, Ewan; Hill, John; Hiller, Karl Heinz; Hillier, Stephen; Hinchliffe, Ian; Hines, Elizabeth; Hinman, Rachel Reisner; Hirose, Minoru; Hirschbuehl, Dominic; Hobbs, John; Hod, Noam; Hodgkinson, Mark; Hodgson, Paul; Hoecker, Andreas; Hoeferkamp, Martin; Hoenig, Friedrich; Hohlfeld, Marc; Hohn, David; Holmes, Tova Ray; Homann, Michael; Hong, Tae Min; Hopkins, Walter; Horii, Yasuyuki; Horton, Arthur James; Hostachy, Jean-Yves; Hou, Suen; Hoummada, Abdeslam; Howard, Jacob; Howarth, James; Hrabovsky, Miroslav; Hristova, Ivana; Hrivnac, Julius; Hryn'ova, Tetiana; Hrynevich, Aliaksei; Hsu, Catherine; Hsu, Pai-hsien Jennifer; Hsu, Shih-Chieh; Hu, Diedi; Hu, Qipeng; Hu, Xueye; Huang, Yanping; Hubacek, Zdenek; Hubaut, Fabrice; Huegging, Fabian; Huffman, Todd Brian; Hughes, Emlyn; Hughes, Gareth; Huhtinen, Mika; Hülsing, Tobias Alexander; Huseynov, Nazim; Huston, Joey; Huth, John; Iacobucci, Giuseppe; Iakovidis, Georgios; Ibragimov, Iskander; Iconomidou-Fayard, Lydia; Ideal, Emma; Idrissi, Zineb; Iengo, Paolo; Igonkina, Olga; Iizawa, Tomoya; Ikegami, Yoichi; Ikematsu, Katsumasa; Ikeno, Masahiro; Ilchenko, Iurii; Iliadis, Dimitrios; Ilic, Nikolina; Ince, Tayfun; Introzzi, Gianluca; Ioannou, Pavlos; Iodice, Mauro; Iordanidou, Kalliopi; Ippolito, Valerio; Irles Quiles, Adrian; Isaksson, Charlie; Ishino, Masaya; Ishitsuka, Masaki; Ishmukhametov, Renat; Issever, Cigdem; Istin, Serhat; Iturbe Ponce, Julia Mariana; Iuppa, Roberto; Ivarsson, Jenny; Iwanski, Wieslaw; Iwasaki, Hiroyuki; Izen, Joseph; Izzo, Vincenzo; Jabbar, Samina; Jackson, Brett; Jackson, Matthew; Jackson, Paul; Jaekel, Martin; Jain, Vivek; Jakobs, Karl; Jakobsen, Sune; Jakoubek, Tomas; Jakubek, Jan; Jamin, David Olivier; Jana, Dilip; Jansen, Eric; Jansky, Roland; Janssen, Jens; Janus, Michel; Jarlskog, Göran; Javadov, Namig; Javůrek, Tomáš; Jeanty, Laura; Jejelava, Juansher; Jeng, Geng-yuan; Jennens, David; Jenni, Peter; Jentzsch, Jennifer; Jeske, Carl; Jézéquel, Stéphane; Ji, Haoshuang; Jia, Jiangyong; Jiang, Yi; Jiggins, Stephen; Jimenez Pena, Javier; Jin, Shan; Jinaru, Adam; Jinnouchi, Osamu; Joergensen, Morten Dam; Johansson, Per; Johns, Kenneth; Johnson, William Joseph; Jon-And, Kerstin; Jones, Graham; Jones, Roger; Jones, Tim; Jongmanns, Jan; Jorge, Pedro; Joshi, Kiran Daniel; Jovicevic, Jelena; Ju, Xiangyang; Jussel, Patrick; Juste Rozas, Aurelio; Kaci, Mohammed; Kaczmarska, Anna; Kado, Marumi; Kagan, Harris; Kagan, Michael; Kahn, Sebastien Jonathan; Kajomovitz, Enrique; Kalderon, Charles William; Kama, Sami; Kamenshchikov, Andrey; Kanaya, Naoko; Kaneti, Steven; Kantserov, Vadim; Kanzaki, Junichi; Kaplan, Benjamin; Kaplan, Laser Seymour; Kapliy, Anton; Kar, Deepak; Karakostas, Konstantinos; Karamaoun, Andrew; Karastathis, Nikolaos; Kareem, Mohammad Jawad; Karentzos, Efstathios; Karnevskiy, Mikhail; Karpov, Sergey; Karpova, Zoya; Karthik, Krishnaiyengar; Kartvelishvili, Vakhtang; Karyukhin, Andrey; Kasahara, Kota; Kashif, Lashkar; Kass, Richard; Kastanas, Alex; Kataoka, Yousuke; Kato, Chikuma; Katre, Akshay; Katzy, Judith; Kawade, Kentaro; Kawagoe, Kiyotomo; Kawamoto, Tatsuo; Kawamura, Gen; Kazama, Shingo; Kazanin, Vassili; Keeler, Richard; Kehoe, Robert; Keller, John; Kempster, Jacob Julian; Keoshkerian, Houry; Kepka, Oldrich; Kerševan, Borut Paul; Kersten, Susanne; Keyes, Robert; Khalil-zada, Farkhad; Khandanyan, Hovhannes; Khanov, Alexander; Kharlamov, Alexey; Khoo, Teng Jian; Khovanskiy, Valery; Khramov, Evgeniy; Khubua, Jemal; Kido, Shogo; Kim, Hee Yeun; Kim, Shinhong; Kim, Young-Kee; Kimura, Naoki; Kind, Oliver Maria; King, Barry; King, Matthew; King, Samuel Burton; Kirk, Julie; Kiryunin, Andrey; Kishimoto, Tomoe; Kisielewska, Danuta; Kiss, Florian; Kiuchi, Kenji; Kivernyk, Oleh; Kladiva, Eduard; Klein, Matthew Henry; Klein, Max; Klein, Uta; Kleinknecht, Konrad; Klimek, Pawel; Klimentov, Alexei; Klingenberg, Reiner; Klinger, Joel Alexander; Klioutchnikova, Tatiana; Kluge, Eike-Erik; Kluit, Peter; Kluth, Stefan; Knapik, Joanna; Kneringer, Emmerich; Knoops, Edith; Knue, Andrea; Kobayashi, Aine; Kobayashi, Dai; Kobayashi, Tomio; Kobel, Michael; Kocian, Martin; Kodys, Peter; Koffas, Thomas; Koffeman, Els; Kogan, Lucy Anne; Kohlmann, Simon; Kohout, Zdenek; Kohriki, Takashi; Koi, Tatsumi; Kolanoski, Hermann; Kolb, Mathis; Koletsou, Iro; Komar, Aston; Komori, Yuto; Kondo, Takahiko; Kondrashova, Nataliia; Köneke, Karsten; König, Adriaan; Kono, Takanori; Konoplich, Rostislav; Konstantinidis, Nikolaos; Kopeliansky, Revital; Koperny, Stefan; Köpke, Lutz; Kopp, Anna Katharina; Korcyl, Krzysztof; Kordas, Kostantinos; Korn, Andreas; Korol, Aleksandr; Korolkov, Ilya; Korolkova, Elena; Kortner, Oliver; Kortner, Sandra; Kosek, Tomas; Kostyukhin, Vadim; Kotov, Vladislav; Kotwal, Ashutosh; Kourkoumeli-Charalampidi, Athina; Kourkoumelis, Christine; Kouskoura, Vasiliki; Koutsman, Alex; Kowalewski, Robert Victor; Kowalski, Tadeusz; Kozanecki, Witold; Kozhin, Anatoly; Kramarenko, Viktor; Kramberger, Gregor; Krasnopevtsev, Dimitriy; Krasny, Mieczyslaw Witold; Krasznahorkay, Attila; Kraus, Jana; Kravchenko, Anton; Kreiss, Sven; Kretz, Moritz; Kretzschmar, Jan; Kreutzfeldt, Kristof; Krieger, Peter; Krizka, Karol; Kroeninger, Kevin; Kroha, Hubert; Kroll, Joe; Kroseberg, Juergen; Krstic, Jelena; Kruchonak, Uladzimir; Krüger, Hans; Krumnack, Nils; Kruse, Amanda; Kruse, Mark; Kruskal, Michael; Kubota, Takashi; Kucuk, Hilal; Kuday, Sinan; Kuehn, Susanne; Kugel, Andreas; Kuger, Fabian; Kuhl, Andrew; Kuhl, Thorsten; Kukhtin, Victor; Kukla, Romain; Kulchitsky, Yuri; Kuleshov, Sergey; Kuna, Marine; Kunigo, Takuto; Kupco, Alexander; Kurashige, Hisaya; Kurochkin, Yurii; Kus, Vlastimil; Kuwertz, Emma Sian; Kuze, Masahiro; Kvita, Jiri; Kwan, Tony; Kyriazopoulos, Dimitrios; La Rosa, Alessandro; La Rosa Navarro, Jose Luis; La Rotonda, Laura; Lacasta, Carlos; Lacava, Francesco; Lacey, James; Lacker, Heiko; Lacour, Didier; Lacuesta, Vicente Ramón; Ladygin, Evgueni; Lafaye, Remi; Laforge, Bertrand; Lagouri, Theodota; Lai, Stanley; Lambourne, Luke; Lammers, Sabine; Lampen, Caleb; Lampl, Walter; Lançon, Eric; Landgraf, Ulrich; Landon, Murrough; Lang, Valerie Susanne; Lange, J örn Christian; Lankford, Andrew; Lanni, Francesco; Lantzsch, Kerstin; Lanza, Agostino; Laplace, Sandrine; Lapoire, Cecile; Laporte, Jean-Francois; Lari, Tommaso; Lasagni Manghi, Federico; Lassnig, Mario; Laurelli, Paolo; Lavrijsen, Wim; Law, Alexander; Laycock, Paul; Lazovich, Tomo; Le Dortz, Olivier; Le Guirriec, Emmanuel; Le Menedeu, Eve; LeBlanc, Matthew Edgar; LeCompte, Thomas; Ledroit-Guillon, Fabienne Agnes Marie; Lee, Claire Alexandra; Lee, Shih-Chang; Lee, Lawrence; Lefebvre, Guillaume; Lefebvre, Michel; Legger, Federica; Leggett, Charles; Lehan, Allan; Lehmann Miotto, Giovanna; Lei, Xiaowen; Leight, William Axel; Leisos, Antonios; Leister, Andrew Gerard; Leite, Marco Aurelio Lisboa; Leitner, Rupert; Lellouch, Daniel; Lemmer, Boris; Leney, Katharine; Lenz, Tatjana; Lenzi, Bruno; Leone, Robert; Leone, Sandra; Leonidopoulos, Christos; Leontsinis, Stefanos; Leroy, Claude; Lester, Christopher; Levchenko, Mikhail; Levêque, Jessica; Levin, Daniel; Levinson, Lorne; Levy, Mark; Lewis, Adrian; Leyko, Agnieszka; Leyton, Michael; Li, Bing; Li, Haifeng; Li, Ho Ling; Li, Lei; Li, Liang; Li, Shu; Li, Xingguo; Li, Yichen; Liang, Zhijun; Liao, Hongbo; Liberti, Barbara; Liblong, Aaron; Lichard, Peter; Lie, Ki; Liebal, Jessica; Liebig, Wolfgang; Limbach, Christian; Limosani, Antonio; Lin, Simon; Lin, Tai-Hua; Linde, Frank; Lindquist, Brian Edward; Linnemann, James; Lipeles, Elliot; Lipniacka, Anna; Lisovyi, Mykhailo; Liss, Tony; Lissauer, David; Lister, Alison; Litke, Alan; Liu, Bo; Liu, Dong; Liu, Hao; Liu, Jian; Liu, Jianbei; Liu, Kun; Liu, Lulu; Liu, Miaoyuan; Liu, Minghui; Liu, Yanwen; Livan, Michele; Lleres, Annick; Llorente Merino, Javier; Lloyd, Stephen; Lo Sterzo, Francesco; Lobodzinska, Ewelina; Loch, Peter; Lockman, William; Loebinger, Fred; Loevschall-Jensen, Ask Emil; Loew, Kevin Michael; Loginov, Andrey; Lohse, Thomas; Lohwasser, Kristin; Lokajicek, Milos; Long, Brian Alexander; Long, Jonathan David; Long, Robin Eamonn; Looper, Kristina Anne; Lopes, Lourenco; Lopez Mateos, David; Lopez Paredes, Brais; Lopez Paz, Ivan; Lorenz, Jeanette; Lorenzo Martinez, Narei; Losada, Marta; Lösel, Philipp Jonathan; Lou, XinChou; Lounis, Abdenour; Love, Jeremy; Love, Peter; Lu, Haonan; Lu, Nan; Lubatti, Henry; Luci, Claudio; Lucotte, Arnaud; Luedtke, Christian; Luehring, Frederick; Lukas, Wolfgang; Luminari, Lamberto; Lundberg, Olof; Lund-Jensen, Bengt; Lynn, David; Lysak, Roman; Lytken, Else; Ma, Hong; Ma, Lian Liang; Maccarrone, Giovanni; Macchiolo, Anna; Macdonald, Calum Michael; Maček, Boštjan; Machado Miguens, Joana; Macina, Daniela; Madaffari, Daniele; Madar, Romain; Maddocks, Harvey Jonathan; Mader, Wolfgang; Madsen, Alexander; Maeda, Junpei; Maeland, Steffen; Maeno, Tadashi; Maevskiy, Artem; Magradze, Erekle; Mahboubi, Kambiz; Mahlstedt, Joern; Maiani, Camilla; Maidantchik, Carmen; Maier, Andreas Alexander; Maier, Thomas; Maio, Amélia; Majewski, Stephanie; Makida, Yasuhiro; Makovec, Nikola; Malaescu, Bogdan; Malecki, Pawel; Maleev, Victor; Malek, Fairouz; Mallik, Usha; Malon, David; Malone, Caitlin; Maltezos, Stavros; Malyshev, Vladimir; Malyukov, Sergei; Mamuzic, Judita; Mancini, Giada; Mandelli, Beatrice; Mandelli, Luciano; Mandić, Igor; Mandrysch, Rocco; Maneira, José; Manfredini, Alessandro; Manhaes de Andrade Filho, Luciano; Manjarres Ramos, Joany; Mann, Alexander; Manousakis-Katsikakis, Arkadios; Mansoulie, Bruno; Mantifel, Rodger; Mantoani, Matteo; Mapelli, Livio; March, Luis; Marchiori, Giovanni; Marcisovsky, Michal; Marino, Christopher; Marjanovic, Marija; Marley, Daniel; Marroquim, Fernando; Marsden, Stephen Philip; Marshall, Zach; Marti, Lukas Fritz; Marti-Garcia, Salvador; Martin, Brian; Martin, Tim; Martin, Victoria Jane; Martin dit Latour, Bertrand; Martinez, Mario; Martin-Haugh, Stewart; Martoiu, Victor Sorin; Martyniuk, Alex; Marx, Marilyn; Marzano, Francesco; Marzin, Antoine; Masetti, Lucia; Mashimo, Tetsuro; Mashinistov, Ruslan; Masik, Jiri; Maslennikov, Alexey; Massa, Ignazio; Massa, Lorenzo; Mastrandrea, Paolo; Mastroberardino, Anna; Masubuchi, Tatsuya; Mättig, Peter; Mattmann, Johannes; Maurer, Julien; Maxfield, Stephen; Maximov, Dmitriy; Mazini, Rachid; Mazza, Simone Michele; Mc Goldrick, Garrin; Mc Kee, Shawn Patrick; McCarn, Allison; McCarthy, Robert; McCarthy, Tom; McCubbin, Norman; McFarlane, Kenneth; Mcfayden, Josh; Mchedlidze, Gvantsa; McMahon, Steve; McPherson, Robert; Medinnis, Michael; Meehan, Samuel; Mehlhase, Sascha; Mehta, Andrew; Meier, Karlheinz; Meineck, Christian; Meirose, Bernhard; Mellado Garcia, Bruce Rafael; Meloni, Federico; Mengarelli, Alberto; Menke, Sven; Meoni, Evelin; Mercurio, Kevin Michael; Mergelmeyer, Sebastian; Mermod, Philippe; Merola, Leonardo; Meroni, Chiara; Merritt, Frank; Messina, Andrea; Metcalfe, Jessica; Mete, Alaettin Serhan; Meyer, Carsten; Meyer, Christopher; Meyer, Jean-Pierre; Meyer, Jochen; Meyer Zu Theenhausen, Hanno; Middleton, Robin; Miglioranzi, Silvia; Mijović, Liza; Mikenberg, Giora; Mikestikova, Marcela; Mikuž, Marko; Milesi, Marco; Milic, Adriana; Miller, David; Mills, Corrinne; Milov, Alexander; Milstead, David; Minaenko, Andrey; Minami, Yuto; Minashvili, Irakli; Mincer, Allen; Mindur, Bartosz; Mineev, Mikhail; Ming, Yao; Mir, Lluisa-Maria; Mistry, Khilesh; Mitani, Takashi; Mitrevski, Jovan; Mitsou, Vasiliki A; Miucci, Antonio; Miyagawa, Paul; Mjörnmark, Jan-Ulf; Moa, Torbjoern; Mochizuki, Kazuya; Mohapatra, Soumya; Mohr, Wolfgang; Molander, Simon; Moles-Valls, Regina; Monden, Ryutaro; Mönig, Klaus; Monini, Caterina; Monk, James; Monnier, Emmanuel; Montalbano, Alyssa; Montejo Berlingen, Javier; Monticelli, Fernando; Monzani, Simone; Moore, Roger; Morange, Nicolas; Moreno, Deywis; Moreno Llácer, María; Morettini, Paolo; Mori, Daniel; Mori, Tatsuya; Morii, Masahiro; Morinaga, Masahiro; Morisbak, Vanja; Moritz, Sebastian; Morley, Anthony Keith; Mornacchi, Giuseppe; Morris, John; Mortensen, Simon Stark; Morton, Alexander; Morvaj, Ljiljana; Mosidze, Maia; Moss, Josh; Motohashi, Kazuki; Mount, Richard; Mountricha, Eleni; Mouraviev, Sergei; Moyse, Edward; Muanza, Steve; Mudd, Richard; Mueller, Felix; Mueller, James; Mueller, Ralph Soeren Peter; Mueller, Thibaut; Muenstermann, Daniel; Mullen, Paul; Mullier, Geoffrey; Murillo Quijada, Javier Alberto; Murray, Bill; Musheghyan, Haykuhi; Musto, Elisa; Myagkov, Alexey; Myska, Miroslav; Nachman, Benjamin Philip; Nackenhorst, Olaf; Nadal, Jordi; Nagai, Koichi; Nagai, Ryo; Nagai, Yoshikazu; Nagano, Kunihiro; Nagarkar, Advait; Nagasaka, Yasushi; Nagata, Kazuki; Nagel, Martin; Nagy, Elemer; Nairz, Armin Michael; Nakahama, Yu; Nakamura, Koji; Nakamura, Tomoaki; Nakano, Itsuo; Namasivayam, Harisankar; Naranjo Garcia, Roger Felipe; Narayan, Rohin; Narrias Villar, Daniel Isaac; Naumann, Thomas; Navarro, Gabriela; Nayyar, Ruchika; Neal, Homer; Nechaeva, Polina; Neep, Thomas James; Nef, Pascal Daniel; Negri, Andrea; Negrini, Matteo; Nektarijevic, Snezana; Nellist, Clara; Nelson, Andrew; Nemecek, Stanislav; Nemethy, Peter; Nepomuceno, Andre Asevedo; Nessi, Marzio; Neubauer, Mark; Neumann, Manuel; Neves, Ricardo; Nevski, Pavel; Newman, Paul; Nguyen, Duong Hai; Nickerson, Richard; Nicolaidou, Rosy; Nicquevert, Bertrand; Nielsen, Jason; Nikiforou, Nikiforos; Nikiforov, Andriy; Nikolaenko, Vladimir; Nikolic-Audit, Irena; Nikolopoulos, Konstantinos; Nilsen, Jon Kerr; Nilsson, Paul; Ninomiya, Yoichi; Nisati, Aleandro; Nisius, Richard; Nobe, Takuya; Nomachi, Masaharu; Nomidis, Ioannis; Nooney, Tamsin; Norberg, Scarlet; Nordberg, Markus; Novgorodova, Olga; Nowak, Sebastian; Nozaki, Mitsuaki; Nozka, Libor; Ntekas, Konstantinos; Nunes Hanninger, Guilherme; Nunnemann, Thomas; Nurse, Emily; Nuti, Francesco; O'Brien, Brendan Joseph; O'grady, Fionnbarr; O'Neil, Dugan; O'Shea, Val; Oakham, Gerald; Oberlack, Horst; Obermann, Theresa; Ocariz, Jose; Ochi, Atsuhiko; Ochoa, Ines; Ochoa-Ricoux, Juan Pedro; Oda, Susumu; Odaka, Shigeru; Ogren, Harold; Oh, Alexander; Oh, Seog; Ohm, Christian; Ohman, Henrik; Oide, Hideyuki; Okamura, Wataru; Okawa, Hideki; Okumura, Yasuyuki; Okuyama, Toyonobu; Olariu, Albert; Olivares Pino, Sebastian Andres; Oliveira Damazio, Denis; Olszewski, Andrzej; Olszowska, Jolanta; Onofre, António; Onogi, Kouta; Onyisi, Peter; Oram, Christopher; Oreglia, Mark; Oren, Yona; Orestano, Domizia; Orlando, Nicola; Oropeza Barrera, Cristina; Orr, Robert; Osculati, Bianca; Ospanov, Rustem; Otero y Garzon, Gustavo; Otono, Hidetoshi; Ouchrif, Mohamed; Ould-Saada, Farid; Ouraou, Ahmimed; Oussoren, Koen Pieter; Ouyang, Qun; Ovcharova, Ana; Owen, Mark; Owen, Rhys Edward; Ozcan, Veysi Erkcan; Ozturk, Nurcan; Pachal, Katherine; Pacheco Pages, Andres; Padilla Aranda, Cristobal; Pagáčová, Martina; Pagan Griso, Simone; Paganis, Efstathios; Paige, Frank; Pais, Preema; Pajchel, Katarina; Palacino, Gabriel; Palestini, Sandro; Palka, Marek; Pallin, Dominique; Palma, Alberto; Pan, Yibin; Panagiotopoulou, Evgenia; Pandini, Carlo Enrico; Panduro Vazquez, William; Pani, Priscilla; Panitkin, Sergey; Pantea, Dan; Paolozzi, Lorenzo; Papadopoulou, Theodora; Papageorgiou, Konstantinos; Paramonov, Alexander; Paredes Hernandez, Daniela; Parker, Michael Andrew; Parker, Kerry Ann; Parodi, Fabrizio; Parsons, John; Parzefall, Ulrich; Pasqualucci, Enrico; Passaggio, Stefano; Pastore, Fernanda; Pastore, Francesca; Pásztor, Gabriella; Pataraia, Sophio; Patel, Nikhul; Pater, Joleen; Pauly, Thilo; Pearce, James; Pearson, Benjamin; Pedersen, Lars Egholm; Pedersen, Maiken; Pedraza Lopez, Sebastian; Pedro, Rute; Peleganchuk, Sergey; Pelikan, Daniel; Penc, Ondrej; Peng, Cong; Peng, Haiping; Penning, Bjoern; Penwell, John; Perepelitsa, Dennis; Perez Codina, Estel; Pérez García-Estañ, María Teresa; Perini, Laura; Pernegger, Heinz; Perrella, Sabrina; Peschke, Richard; Peshekhonov, Vladimir; Peters, Krisztian; Peters, Yvonne; Petersen, Brian; Petersen, Troels; Petit, Elisabeth; Petridis, Andreas; Petridou, Chariclia; Petroff, Pierre; Petrolo, Emilio; Petrucci, Fabrizio; Pettersson, Nora Emilia; Pezoa, Raquel; Phillips, Peter William; Piacquadio, Giacinto; Pianori, Elisabetta; Picazio, Attilio; Piccaro, Elisa; Piccinini, Maurizio; Pickering, Mark Andrew; Piegaia, Ricardo; Pignotti, David; Pilcher, James; Pilkington, Andrew; Pin, Arnaud Willy J; Pina, João Antonio; Pinamonti, Michele; Pinfold, James; Pingel, Almut; Pires, Sylvestre; Pirumov, Hayk; Pitt, Michael; Pizio, Caterina; Plazak, Lukas; Pleier, Marc-Andre; Pleskot, Vojtech; Plotnikova, Elena; Plucinski, Pawel; Pluth, Daniel; Poettgen, Ruth; Poggioli, Luc; Pohl, David-leon; Polesello, Giacomo; Poley, Anne-luise; Policicchio, Antonio; Polifka, Richard; Polini, Alessandro; Pollard, Christopher Samuel; Polychronakos, Venetios; Pommès, Kathy; Pontecorvo, Ludovico; Pope, Bernard; Popeneciu, Gabriel Alexandru; Popovic, Dragan; Poppleton, Alan; Pospisil, Stanislav; Potamianos, Karolos; Potrap, Igor; Potter, Christina; Potter, Christopher; Poulard, Gilbert; Poveda, Joaquin; Pozdnyakov, Valery; Pralavorio, Pascal; Pranko, Aliaksandr; Prasad, Srivas; Prell, Soeren; Price, Darren; Price, Lawrence; Primavera, Margherita; Prince, Sebastien; Proissl, Manuel; Prokofiev, Kirill; Prokoshin, Fedor; Protopapadaki, Eftychia-sofia; Protopopescu, Serban; Proudfoot, James; Przybycien, Mariusz; Ptacek, Elizabeth; Puddu, Daniele; Pueschel, Elisa; Puldon, David; Purohit, Milind; Puzo, Patrick; Qian, Jianming; Qin, Gang; Qin, Yang; Quadt, Arnulf; Quarrie, David; Quayle, William; Queitsch-Maitland, Michaela; Quilty, Donnchadha; Raddum, Silje; Radeka, Veljko; Radescu, Voica; Radhakrishnan, Sooraj Krishnan; Radloff, Peter; Rados, Pere; Ragusa, Francesco; Rahal, Ghita; Rajagopalan, Srinivasan; Rammensee, Michael; Rangel-Smith, Camila; Rauscher, Felix; Rave, Stefan; Ravenscroft, Thomas; Raymond, Michel; Read, Alexander Lincoln; Readioff, Nathan Peter; Rebuzzi, Daniela; Redelbach, Andreas; Redlinger, George; Reece, Ryan; Reeves, Kendall; Rehnisch, Laura; Reichert, Joseph; Reisin, Hernan; Rembser, Christoph; Ren, Huan; Renaud, Adrien; Rescigno, Marco; Resconi, Silvia; Rezanova, Olga; Reznicek, Pavel; Rezvani, Reyhaneh; Richter, Robert; Richter, Stefan; Richter-Was, Elzbieta; Ricken, Oliver; Ridel, Melissa; Rieck, Patrick; Riegel, Christian Johann; Rieger, Julia; Rifki, Othmane; Rijssenbeek, Michael; Rimoldi, Adele; Rinaldi, Lorenzo; Ristić, Branislav; Ritsch, Elmar; Riu, Imma; Rizatdinova, Flera; Rizvi, Eram; Robertson, Steven; Robichaud-Veronneau, Andree; Robinson, Dave; Robinson, James; Robson, Aidan; Roda, Chiara; Roe, Shaun; Røhne, Ole; Rolli, Simona; Romaniouk, Anatoli; Romano, Marino; Romano Saez, Silvestre Marino; Romero Adam, Elena; Rompotis, Nikolaos; Ronzani, Manfredi; Roos, Lydia; Ros, Eduardo; Rosati, Stefano; Rosbach, Kilian; Rose, Peyton; Rosendahl, Peter Lundgaard; Rosenthal, Oliver; Rossetti, Valerio; Rossi, Elvira; Rossi, Leonardo Paolo; Rosten, Jonatan; Rosten, Rachel; Rotaru, Marina; Roth, Itamar; Rothberg, Joseph; Rousseau, David; Royon, Christophe; Rozanov, Alexandre; Rozen, Yoram; Ruan, Xifeng; Rubbo, Francesco; Rubinskiy, Igor; Rud, Viacheslav; Rudolph, Christian; Rudolph, Matthew Scott; Rühr, Frederik; Ruiz-Martinez, Aranzazu; Rurikova, Zuzana; Rusakovich, Nikolai; Ruschke, Alexander; Russell, Heather; Rutherfoord, John; Ruthmann, Nils; Ryabov, Yury; Rybar, Martin; Rybkin, Grigori; Ryder, Nick; Ryzhov, Andrey; Saavedra, Aldo; Sabato, Gabriele; Sacerdoti, Sabrina; Saddique, Asif; Sadrozinski, Hartmut; Sadykov, Renat; Safai Tehrani, Francesco; Saha, Puja; Sahinsoy, Merve; Saimpert, Matthias; Saito, Tomoyuki; Sakamoto, Hiroshi; Sakurai, Yuki; Salamanna, Giuseppe; Salamon, Andrea; Salazar Loyola, Javier Esteban; Saleem, Muhammad; Salek, David; Sales De Bruin, Pedro Henrique; Salihagic, Denis; Salnikov, Andrei; Salt, José; Salvatore, Daniela; Salvatore, Pasquale Fabrizio; Salvucci, Antonio; Salzburger, Andreas; Sammel, Dirk; Sampsonidis, Dimitrios; Sanchez, Arturo; Sánchez, Javier; Sanchez Martinez, Victoria; Sandaker, Heidi; Sandbach, Ruth Laura; Sander, Heinz Georg; Sanders, Michiel; Sandhoff, Marisa; Sandoval, Carlos; Sandstroem, Rikard; Sankey, Dave; Sannino, Mario; Sansoni, Andrea; Santoni, Claudio; Santonico, Rinaldo; Santos, Helena; Santoyo Castillo, Itzebelt; Sapp, Kevin; Sapronov, Andrey; Saraiva, João; Sarrazin, Bjorn; Sasaki, Osamu; Sasaki, Yuichi; Sato, Koji; Sauvage, Gilles; Sauvan, Emmanuel; Savage, Graham; Savard, Pierre; Sawyer, Craig; Sawyer, Lee; Saxon, James; Sbarra, Carla; Sbrizzi, Antonio; Scanlon, Tim; Scannicchio, Diana; Scarcella, Mark; Scarfone, Valerio; Schaarschmidt, Jana; Schacht, Peter; Schaefer, Douglas; Schaefer, Ralph; Schaeffer, Jan; Schaepe, Steffen; Schaetzel, Sebastian; Schäfer, Uli; Schaffer, Arthur; Schaile, Dorothee; Schamberger, R Dean; Scharf, Veit; Schegelsky, Valery; 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    2015-01-01

    Searches for both resonant and non-resonant Higgs boson pair production are performed in the $hh\\to bb\\tau\\tau, \\gamma\\gamma WW^*$ final states using 20.3 fb$^{-1}$ of $pp$ collision data at a center-of-mass energy of 8 TeV recorded with the ATLAS detector at the Large Hadron Collider. No evidence of their production is observed and 95% confidence level upper limits on the production cross sections are set. These results are then combined with the published results of the $hh\\to \\gamma\\gamma bb, bbbb$ analyses. An upper limit of 0.69 (0.47) pb on the non-resonant Standard Model like $hh$ production is observed (expected), corresponding to 70 (48) times of the SM $gg\\to hh$ cross section. For production via narrow resonances, cross section limits of $hh$ production from a heavy Higgs boson decay are set as a function of the heavy Higgs boson mass. The observed (expected) limits range from 2.1 (1.1) pb at 260 GeV to 0.011 (0.018) pb at 1000 GeV. These results are interpreted in the context of two simplified sce...

  16. Ability of innate defence regulator peptides IDR-1002, IDR-HH2 and IDR-1018 to protect against Mycobacterium tuberculosis infections in animal models.

    Directory of Open Access Journals (Sweden)

    Bruno Rivas-Santiago

    Full Text Available Tuberculosis is an ongoing threat to global health, especially with the emergence of multi drug-resistant (MDR and extremely drug-resistant strains that are motivating the search for new treatment strategies. One potential strategy is immunotherapy using Innate Defence Regulator (IDR peptides that selectively modulate innate immunity, enhancing chemokine induction and cell recruitment while suppressing potentially harmful inflammatory responses. IDR peptides possess only modest antimicrobial activity but have profound immunomodulatory functions that appear to be influential in resolving animal model infections. The IDR peptides HH2, 1018 and 1002 were tested for their activity against two M. tuberculosis strains, one drug-sensitive and the other MDR in both in vitro and in vivo models. All peptides showed no cytotoxic activity and only modest direct antimicrobial activity versus M. tuberculosis (MIC of 15-30 µg/ml. Nevertheless peptides HH2 and 1018 reduced bacillary loads in animal models with both the virulent drug susceptible H37Rv strain and an MDR isolate and, especially 1018 led to a considerable reduction in lung inflammation as revealed by decreased pneumonia. These results indicate that IDR peptides have potential as a novel immunotherapy against TB.

  17. Observations and measurements of dynamic effects due to beam-beam interactions in the LHC and extrapolation to the FCC-hh

    CERN Document Server

    Goncalves Jorge, Patrik

    The Future Circular hadron-hadron Collider (FCC-hh) is a design study for a 100 TeV centre-of-mass energy. The dynamics of the beams in such a collider poses many challenges, in particular the amount of energy stored in each beam (8.4 GJ) makes them very destructive and therefore requires a tight control of the machine and beam parameters during the full cycle in order to avoid damages and reach the collider designed performances. The FCC-hh features an increase of the beam brightness during the cycle due to the presence of synchrotron radiation damping at high energy. As a result, the electromagnetic forces that the two beams exert on each other, the so-called beam-beam forces, are enhanced and might become an issue for the safe operation of the machine. In this new regime, the impact of the beam-beam interaction on the optics becomes non-negligible. In this master thesis, for the first time, the impact of the beam-beam interaction on the optics ($\\beta$-beating) is measured in a hadron collider (LHC). The e...

  18. Biomechanics of the chick embryonic heart outflow tract at HH18 using 4D optical coherence tomography imaging and computational modeling.

    Directory of Open Access Journals (Sweden)

    Aiping Liu

    Full Text Available During developmental stages, biomechanical stimuli on cardiac cells modulate genetic programs, and deviations from normal stimuli can lead to cardiac defects. Therefore, it is important to characterize normal cardiac biomechanical stimuli during early developmental stages. Using the chicken embryo model of cardiac development, we focused on characterizing biomechanical stimuli on the Hamburger-Hamilton (HH 18 chick cardiac outflow tract (OFT, the distal portion of the heart from which a large portion of defects observed in humans originate. To characterize biomechanical stimuli in the OFT, we used a combination of in vivo optical coherence tomography (OCT imaging, physiological measurements and computational fluid dynamics (CFD modeling. We found that, at HH18, the proximal portion of the OFT wall undergoes larger circumferential strains than its distal portion, while the distal portion of the OFT wall undergoes larger wall stresses. Maximal wall shear stresses were generally found on the surface of endocardial cushions, which are protrusions of extracellular matrix onto the OFT lumen that later during development give rise to cardiac septa and valves. The non-uniform spatial and temporal distributions of stresses and strains in the OFT walls provide biomechanical cues to cardiac cells that likely aid in the extensive differential growth and remodeling patterns observed during normal development.

  19. DOWN SYNDROME WITH MOYAMOYA SYNDROME

    National Research Council Canada - National Science Library

    Mohan Makwana; R. K. Vishnoi; Jai Prakash Soni; Kapil Jetha; Suresh Kumar Verma; Pradeep Singh Rathore; Monika Choudhary

    2017-01-01

    ...,” in which the arterial changes are seen among patients with various syndromes or other disease processes- Down syndrome, sickle cell anaemia, neurofibromatosis type-1, congenital heart disease...

  20. Kindler syndrome

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    Kaviarasan P

    2005-01-01

    Full Text Available Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma. The differential diagnosis of Kindler syndrome includes diseases like Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. Our patient had classical cutaneous features of Kindler syndrome with phimosis as a complication.

  1. Severe Hyperinsulinaemic Hypoglycaemia in Beckwith-Wiedemann Syndrome due to Paternal Uniparental Disomy of 11p15.5 Managed with Sirolimus Therapy.

    Science.gov (United States)

    Güemes, Maria; Shah, Pratik; Roženková, Klára; Gilbert, Clare; Morgan, Kate; Hussain, Khalid

    2016-01-01

    Almost half of the children with Beckwith-Wiedemann syndrome (BWS) will develop hyperinsulinaemic hypoglycaemia (HH). In the majority of BWS cases, HH will be transient; however, approximately in 5% of them, HH will be severe and often medically-unresponsive. Children with BWS due to paternal uniparental disomy (UPD) of chromosome 11p15 belong to this severe category and have traditionally required near-total pancreatectomy. The use of mTOR inhibitors had not been reported yet in this type of patients. A 1-month-old female with genetically confirmed BWS due to UPD of chromosome 11p15 was admitted for management of severe HH. Blood glucose concentrations were stabilised with high intravenous dextrose concentration, glucagon and octreotide infusions as she was proven to be diazoxide unresponsive. To avoid a subtotal pancreatectomy, an mTOR inhibitor - sirolimus - was introduced. The dose of sirolimus was optimised progressively and she was able to come off intravenous fluids and glucagon therapy. She has not presented any side effects and her growth is normal after 19 months of therapy. This is the first case reported of BWS due to UPD of chromosome 11p15 where sirolimus treatment has been effective in stabilising the blood glucose concentrations and avoiding a near-total pancreatectomy without major side effects detected. © 2016 S. Karger AG, Basel.

  2. Semiclassical analysis of angular differential cross sections for single-electron capture in 250-eV H++H collisions

    Science.gov (United States)

    Frémont, F.

    2015-05-01

    A classical model based on the resolution of Hamilton equations of motion is used to determine the angular distribution of H projectiles following single-electron capture in H++H collisions at an incident projectile energy of 250 eV. At such low energies, the experimental charge-exchange probability and angular differential cross sections exhibit oscillatory structures that are classically related to the number of swaps the electron experiences between the target and the projectile during the collision. These oscillations are well reproduced by models based on quantum mechanics. In the present paper, the angular distribution of H projectiles is determined classically, at angles varying from 0.1° up to 7°. The variation in intensity due to interferences caused by the indiscernibility between different trajectories is calculated, and the role of these interferences is discussed.

  3. Simultaneous measurement of J(HH) and two different (n)J(CH) coupling constants from a single multiply edited 2D cross-peak.

    Science.gov (United States)

    Saurí, Josep; Parella, Teodor

    2013-07-01

    Three different J-editing methods (IPAP, E.COSY and J-resolved) are implemented in a single NMR experiment to provide spin-state-edited 2D cross-peaks from which a simultaneous measurement of different homonuclear and heteronuclear coupling constants can be performed. A new J-selHSQMBC-IPAP experiment is proposed for the independent measurement of two different (n)J(CH) coupling constants along the F2 and F1 dimensions of the same 2D cross-peak. In addition, the E.COSY pattern provides additional information about the magnitude and relative sign between J(HH) and (n)J(CH) coupling constants. Copyright © 2013 John Wiley & Sons, Ltd.

  4. Transcriptional regulation and adaptation to a high-fiber environment in Bacillus subtilis HH2 isolated from feces of the giant panda.

    Science.gov (United States)

    Zhou, Ziyao; Zhou, Xiaoxiao; Li, Jin; Zhong, Zhijun; Li, Wei; Liu, Xuehan; Liu, Furui; Su, Huaiyi; Luo, Yongjiu; Gu, Wuyang; Wang, Chengdong; Zhang, Hemin; Li, Desheng; He, Tingmei; Fu, Hualin; Cao, Suizhong; Shi, Jinjiang; Peng, Guangneng

    2015-01-01

    In the giant panda, adaptation to a high-fiber environment is a first step for the adequate functioning of intestinal bacteria, as the high cellulose content of the gut due to the panda's vegetarian appetite results in a harsh environment. As an excellent producer of several enzymes and vitamins, Bacillus subtilis imparts various advantages to animals. In our previous study, we determined that several strains of B. subtilis isolated from pandas exhibited good cellulose decomposition ability, and we hypothesized that this bacterial species can survive in and adapt well to a high-fiber environment. To evaluate this hypothesis, we employed RNA-Seq technology to analyze the differentially expressed genes of the selected strain B. subtilis HH2, which demonstrates significant cellulose hydrolysis of different carbon sources (cellulose and glucose). In addition, we used bioinformatics software and resources to analyze the functions and pathways of differentially expressed genes. Interestingly, comparison of the cellulose and glucose groups revealed that the up-regulated genes were involved in amino acid and lipid metabolism or transmembrane transport, both of which are involved in cellulose utilization. Conversely, the down-regulated genes were involved in non-essential functions for bacterial life, such as toxin and bacteriocin secretion, possibly to conserve energy for environmental adaptation. The results indicate that B. subtilis HH2 triggered a series of adaptive mechanisms at the transcriptional level, which suggests that this bacterium could act as a probiotic for pandas fed a high-fiber diet, despite the fact that cellulose is not a very suitable carbon source for this bacterial species. In this study, we present a model to understand the dynamic organization of and interactions between various functional and regulatory networks for unicellular organisms in a high-fiber environment.

  5. Transcriptional regulation and adaptation to a high-fiber environment in Bacillus subtilis HH2 isolated from feces of the giant panda.

    Directory of Open Access Journals (Sweden)

    Ziyao Zhou

    Full Text Available In the giant panda, adaptation to a high-fiber environment is a first step for the adequate functioning of intestinal bacteria, as the high cellulose content of the gut due to the panda's vegetarian appetite results in a harsh environment. As an excellent producer of several enzymes and vitamins, Bacillus subtilis imparts various advantages to animals. In our previous study, we determined that several strains of B. subtilis isolated from pandas exhibited good cellulose decomposition ability, and we hypothesized that this bacterial species can survive in and adapt well to a high-fiber environment. To evaluate this hypothesis, we employed RNA-Seq technology to analyze the differentially expressed genes of the selected strain B. subtilis HH2, which demonstrates significant cellulose hydrolysis of different carbon sources (cellulose and glucose. In addition, we used bioinformatics software and resources to analyze the functions and pathways of differentially expressed genes. Interestingly, comparison of the cellulose and glucose groups revealed that the up-regulated genes were involved in amino acid and lipid metabolism or transmembrane transport, both of which are involved in cellulose utilization. Conversely, the down-regulated genes were involved in non-essential functions for bacterial life, such as toxin and bacteriocin secretion, possibly to conserve energy for environmental adaptation. The results indicate that B. subtilis HH2 triggered a series of adaptive mechanisms at the transcriptional level, which suggests that this bacterium could act as a probiotic for pandas fed a high-fiber diet, despite the fact that cellulose is not a very suitable carbon source for this bacterial species. In this study, we present a model to understand the dynamic organization of and interactions between various functional and regulatory networks for unicellular organisms in a high-fiber environment.

  6. Effective inhibition of melanoma tumorigenesis and growth via a new complex vaccine based on NY-ESO-1-alum-polysaccharide-HH2.

    Science.gov (United States)

    Li, Meng; Shi, Huashan; Mu, Yandong; Luo, Zichao; Zhang, Hailong; Wan, Yang; Zhang, Dongmei; Lu, Lian; Men, Ke; Tian, Yaomei; Wu, Xiaozhe; Liu, Xiaoyan; Pan, Ying; Fan, Yingzi; Yu, Chaoheng; Zhou, Bailing; Xiang, Rong; Chen, Xiancheng; Yang, Li

    2014-07-28

    A safe and effective adjuvant plays an important role in the development of a vaccine. However, adjuvants licensed for administration in humans remain limited. Here, for the first time, we developed a novel combination adjuvant alum-polysaccharide-HH2 (APH) with potent immunomodulating activities, consisting of alum, polysaccharide of Escherichia coli and the synthetic cationic innate defense regulator peptide HH2. The adjuvant effects of APH were examined using NY-ESO-1 protein-based vaccines in prophylactic and therapeutic models. We further determined the immunogenicity and anti-tumor effect of NY-ESO-1-APH (NAPH) vaccine using adoptive cellular/serum therapy in C57/B6 and nude mice. Cell-mediated and antibody-mediated immune responses were evaluated. The APH complex significantly promoted antigen uptake, maturation and cross-presentation of dendritic cells and enhanced the secretion of TNF-α, MCP-1 and IFN-γ by human peripheral blood mononuclear cells compared with individual components. Vaccination of NAPH resulted in significant tumor regression or delayed tumor progression in prophylactic and therapeutic models. In addition, passive serum/cellular therapy potently inhibited tumor growth of NY-ESO-1-B16. Mice treated with NAPH vaccine produced higher antibody titers and greater antibody-dependent/independent cellular cytotoxicity. Therefore, NAPH vaccination effectively stimulated innate immunity, and boosted both arms of the adaptive humoral and cellular immune responses to suppress tumorigenesis and growth of melanoma. Our study revealed the potential application of APH complex as a novel immunomodulatory agent for vaccines against tumor refractory and growth.

  7. Effective inhibition of melanoma tumorigenesis and growth via a new complex vaccine based on NY-ESO-1-alum-polysaccharide-HH2

    Science.gov (United States)

    2014-01-01

    Background A safe and effective adjuvant plays an important role in the development of a vaccine. However, adjuvants licensed for administration in humans remain limited. Here, for the first time, we developed a novel combination adjuvant alum-polysaccharide-HH2 (APH) with potent immunomodulating activities, consisting of alum, polysaccharide of Escherichia coli and the synthetic cationic innate defense regulator peptide HH2. Methods The adjuvant effects of APH were examined using NY-ESO-1 protein-based vaccines in prophylactic and therapeutic models. We further determined the immunogenicity and anti-tumor effect of NY-ESO-1-APH (NAPH) vaccine using adoptive cellular/serum therapy in C57/B6 and nude mice. Cell-mediated and antibody-mediated immune responses were evaluated. Results The APH complex significantly promoted antigen uptake, maturation and cross-presentation of dendritic cells and enhanced the secretion of TNF-α, MCP-1 and IFN-γ by human peripheral blood mononuclear cells compared with individual components. Vaccination of NAPH resulted in significant tumor regression or delayed tumor progression in prophylactic and therapeutic models. In addition, passive serum/cellular therapy potently inhibited tumor growth of NY-ESO-1-B16. Mice treated with NAPH vaccine produced higher antibody titers and greater antibody-dependent/independent cellular cytotoxicity. Therefore, NAPH vaccination effectively stimulated innate immunity, and boosted both arms of the adaptive humoral and cellular immune responses to suppress tumorigenesis and growth of melanoma. Conclusions Our study revealed the potential application of APH complex as a novel immunomodulatory agent for vaccines against tumor refractory and growth. PMID:25070035

  8. Quality assurance for measurements of the radioactivity in the area of the"Horia Hulubei" National Institute for Physics and Nuclear Engineering, IFIN-HH.

    Science.gov (United States)

    Stochioiu, Ana; Luca, Aurelian; Sahagia, Maria; Margineanu, Romul Mircea; Tudor, Ion

    2012-10-01

    This paper presents one part of the activities deployed by the Laboratory for Environment and Personnel Dosimetry (LDPM) of IFIN-HH, namely the radiological monitoring of the environment within the Institute's area and its surrounding influence zone, according to the program approved by the National Regulatory Body for Nuclear Activities, CNCAN. The representative reports regard the radioactive content of soil, surface and underground water, cultivated and spontaneous vegetation, aerosols and atmospheric fallout, sediments. The common requirement is that the measured quantities be precise and the reported values be reliable and credible. This goal is achieved by maintaining a Quality System, verified within the obtaining and maintaining of the laboratory accreditation, according to the international standard ISO/IEC 17025:2005.The LDPM is accredited by the Romanian accreditation body, RENAR, member of the European Accreditation, EA and is designed by CNCAN as a notified testing laboratory. Many measurements were performed in collaboration with the Radionuclide Metrology Laboratory (RML) from IFIN-HH, RENAR accredited and CNCAN notified for calibration and for testing in the field of radioactivity measurement. This paper proposes a short presentation of the important aspects in our activity: i. description of equipment, samplingmethods, processing and measurement of environmental samples; ii. validation of equipment and methods by participation in international and national proficiency tests; iii. a five year follow chart, containing the results in measurement of samples; iv. a recent application, with a wide impact in Romanian mass media: the credible daily report on the possible influence of Fukushima accident over the Romanian environmental radioactivity. Copyright © 2012 Elsevier Ltd. All rights reserved.

  9. Reversible Heterolytic Cleavage of the H-H Bond by Molybdenum Complexes: Controlling the Dynamics of Exchange Between Proton and Hydride

    Energy Technology Data Exchange (ETDEWEB)

    Zhang, Shaoguang; Appel, Aaron M.; Bullock, R. Morris

    2017-05-18

    Controlling the heterolytic cleavage of the H-H bond of dihydrogen is critically important in catalytic hydrogenations and in the catalytic oxidation of H2. We show how the rate of reversible heterolytic cleavage of H2 can be controlled over nearly four orders of magnitude at 25 °C, from 2.1 × 103 s-1 to ≥107 s-1. Bifunctional Mo complexes, [CpMo(CO)(κ3-P2N2)]+ (P2N2 = 1,5-diaza-3,7-diphosphacyclooctane with alkyl/aryl groups on N and P), have been developed for heterolytic cleavage of H2 into a proton and a hydride, akin to Frustrated Lewis Pairs. The H-H bond cleavage is enabled by the basic amine in the second coordination sphere. The products of heterolytic cleavage of H2, Mo hydride complexes bearing protonated amines, [CpMo(H)(CO)(P2N2H)]+, were characterized by spectroscopic studies and by X-ray crystallography. Variable temperature 1H, 15N and 2-D 1H-1H ROESY NMR spectra indicated rapid exchange of the proton and hydride. The exchange rates are in the order [CpMo(H)(CO)(PPh2NPh2H)]+ > [CpMo(H)(CO)(PtBu2NPh2H)]+ > [CpMo(H)(CO)(PPh2NBn2H)]+ > [CpMo(H)(CO)(PtBu2NBn2H)]+ > [CpMo(H)(CO)(PtBu2NtBu2H)]+. The pKa values determined in acetonitrile range from 9.3 to 17.7, and show a linear correlation with the logarithm of the exchange rates. Thus the exchange dynamics are controlled through the relative acidity of the [CpMo(H)(CO)(P2N2H)]+ and [CpMo(H2)(CO)(P2N2)]+ isomers, providing a design principle for controlling heterolytic cleavage of H2.

  10. Dumping Syndrome

    Science.gov (United States)

    ... Intestinal Pseudo-obstruction Irritable Bowel Syndrome (IBS) Definition & Facts Symptoms & Causes Diagnosis Treatment Eating, Diet, & Nutrition Clinical Trials Irritable Bowel Syndrome (IBS) in Children Lactose Intolerance Ménétrier’s Disease Microscopic Colitis Ostomy Surgery of the ...

  11. Piriformis syndrome

    Science.gov (United States)

    Pseudosciatica; Wallet sciatica; Hip socket neuropathy; Pelvic outlet syndrome; Low back pain - piriformis ... Sciatica is the main symptom of piriformis syndrome. Other symptoms include: Tenderness or a dull ache in ...

  12. Alagille Syndrome

    Science.gov (United States)

    ... Liver Tumors Biliary Atresia Cirrhosis of the Liver Galactosemia Gilbert’s Syndrome Diseases of the Liver Glycogen Storage ... Liver Tumors Biliary Atresia Cirrhosis of the Liver Galactosemia Gilbert’s Syndrome Diseases of the Liver Glycogen Storage ...

  13. Reye Syndrome

    Science.gov (United States)

    ... Liver Tumors Biliary Atresia Cirrhosis of the Liver Galactosemia Gilbert’s Syndrome Diseases of the Liver Glycogen Storage ... Liver Tumors Biliary Atresia Cirrhosis of the Liver Galactosemia Gilbert’s Syndrome Diseases of the Liver Glycogen Storage ...

  14. Zellweger Syndrome

    Science.gov (United States)

    ... Zellweger syndrome (ZS, the most severe form), neonatal adrenoleukodystrophy (NALD), and Infantile Refsum disease (IRD, the least ... Zellweger syndrome (ZS, the most severe form), neonatal adrenoleukodystrophy (NALD), and Infantile Refsum disease (IRD, the least ...

  15. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    Criton S

    1995-01-01

    Full Text Available Proteus syndrome is a hamartomatous disorder characterised by focal overgrowths that can involve any structure of the body. An eleven-year-old girl with Proteus syndrome has been described with clitoromegaly.

  16. Overlap syndromes

    NARCIS (Netherlands)

    Beuers, Ulrich; Rust, Christian

    2005-01-01

    In hepatology, the term overlap syndrome describes variant forms of the major hepatobiliary autoimmune diseases, autoimmune hepatitis (AIH), primary biliary cirrhosis (PBC), and primary sclerosing cholangitis (PSC). Patients with overlap syndromes present with both hepatitic and cholestatic

  17. Metabolic Syndrome

    Science.gov (United States)

    Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These ... doctors agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is ...

  18. Reye Syndrome

    Science.gov (United States)

    Reye syndrome is a rare illness that can affect the blood, liver, and brain of someone who has recently ... a viral illness, seek medical attention immediately. Reye syndrome can lead to a coma and brain death, ...

  19. Usher Syndrome

    Science.gov (United States)

    Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder that causes ... and vision. There are three types of Usher syndrome: People with type I are deaf from birth ...

  20. Turner Syndrome

    Science.gov (United States)

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete X ... work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

  1. Felty syndrome

    Science.gov (United States)

    Seropositive rheumatoid arthritis (RA); Felty's syndrome ... The cause of Felty syndrome is unknown. It is more common in people who have had rheumatoid arthritis (RA) for a long time. People with ...

  2. Rett Syndrome

    Science.gov (United States)

    Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. ...

  3. Alport Syndrome

    Science.gov (United States)

    ... body. Many people with Alport syndrome also have hearing problems and abnormalities with their eyes. Other signs and ... and inherited type of Alport syndrome. For example, hearing and vision problems tend to be more common in males than ...

  4. Moebius Syndrome

    Science.gov (United States)

    ... eye sensitivity; motor delays; high or cleft palate; hearing problems and speech difficulties. Children with Moebius syndrome are ... eye sensitivity; motor delays; high or cleft palate; hearing problems and speech difficulties. Children with Moebius syndrome are ...

  5. Heart and Down Syndrome

    Science.gov (United States)

    ... 4602 [email protected] Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ... Helpline » Follow us Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ...

  6. Down Syndrome: Education

    Science.gov (United States)

    ... 4602 [email protected] Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ... Helpline » Follow us Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ...

  7. Dental Issues & Down Syndrome

    Science.gov (United States)

    ... 4602 [email protected] Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ... Helpline » Follow us Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ...

  8. Down Syndrome: Education

    Science.gov (United States)

    ... Our Team Financial Information NDSS History About Down Syndrome Down Syndrome Preferred Language Guide Down Syndrome Facts Down ... Our Team Financial Information NDSS History About Down Syndrome Down Syndrome Down Syndrome Facts Preferred Language Guide Publications ...

  9. Facts About Usher Syndrome

    Science.gov (United States)

    ... Usher Syndrome > Facts About Usher Syndrome Facts About Usher Syndrome This information was developed by the National Eye ... is the best person to answer specific questions. Usher Syndrome Defined What is Usher syndrome? Usher syndrome is ...

  10. International Rett Syndrome Foundation

    Science.gov (United States)

    ... Newsletters & Reports About Rett Syndrome What is Rett Syndrome? Rett Syndrome Diagnosis Boys with MECP2 Clinics FAQs Glossary ... Newsletters & Reports About Rett Syndrome What is Rett Syndrome? Rett Syndrome Diagnosis Boys with MECP2 Clinics FAQs Glossary ...

  11. [Capgras syndrome].

    Science.gov (United States)

    Alcoverro Fortuny, O; Sierra Acín, A C

    2001-01-01

    The authors report a case of Capgras' syndrome in a 16-years-old child, who had been hospitalized for psychotic disorder. A review of the literature is performed. Most authors state that Capgras' syndrome would represent a symptom of underlying medical o functional disorders, although the term syndrome is used. The main etiopathogenic hypothesis of this syndrome are put forward (psychodynamic, disconnection, neuropsychological and medical).

  12. Metabolic Syndrome

    Science.gov (United States)

    ... much saturated fat, and does not get enough physical activity may develop metabolic syndrome. Other causes include insulin resistance and a family ... you’re overweight. It also includes getting more physical activity and eating a ... syndrome treatment If you already have metabolic syndrome, making ...

  13. Goodpasture Syndrome

    Science.gov (United States)

    ... necessary. Eating, Diet, and Nutrition Eating, diet, and nutrition have not been shown to play a role in causing or preventing Goodpasture syndrome. Points to Remember Goodpasture syndrome is a pulmonary-renal syndrome, which is a group of acute illnesses ...

  14. [Reye's syndrome].

    Science.gov (United States)

    Yoshida, I

    2000-11-01

    A nationwide survey on Reye's syndrome(RS) was described. And problems between RS and influenza virus such as etiology, pathophysiology, differential diagnosis and epidemiology were reviewed. So-called aspirin issue on RS was re-evaluated according to recent advance of RS research. Finally future aspect of Reye's syndrome was also discussed.

  15. Reye's Syndrome

    Science.gov (United States)

    ... Page You are here Home » Disorders » All Disorders Reye's Syndrome Information Page Reye's Syndrome Information Page What research is being done? Much ... Information from the National Library of Medicine’s MedlinePlus Reye's Syndrome × What research is being done? Much of the ...

  16. [Cardiorenal syndrome].

    Science.gov (United States)

    Salleck, D; John, S

    2017-09-13

    Patients in the intensive care unit often suffer from cardiorenal syndrome, which can have an important influence on the patient's outcome. The heart and kidney influence each other via organ crosstalk. We screened and evaluated current publications on cardiorenal syndromes and their therapy. A key role in the management of cardiorenal syndromes is renal decongestion via loop diuretics.

  17. Hh/Gli antagonist in acute myeloid leukemia with CBFA2T3-GLIS2 fusion gene.

    Science.gov (United States)

    Masetti, Riccardo; Bertuccio, Salvatore Nicola; Astolfi, Annalisa; Chiarini, Francesca; Lonetti, Annalisa; Indio, Valentina; De Luca, Matilde; Bandini, Jessica; Serravalle, Salvatore; Franzoni, Monica; Pigazzi, Martina; Martelli, Alberto Maria; Basso, Giuseppe; Locatelli, Franco; Pession, Andrea

    2017-01-21

    CBFA2T3-GLIS2 is a fusion gene found in 17% of non-Down syndrome acute megakaryoblastic leukemia (non-DS AMKL, FAB M7) and in 8% of pediatric cytogenetically normal acute myeloid leukemia (CN-AML, in association with several French-American-British (FAB) subtypes). Children with AML harboring this aberration have a poor outcome, regardless of the FAB subtype. This fusion gene drives a peculiar expression pattern and leads to overexpression of some of Hedgehog-related genes. GLI-similar protein 2 (GLIS2) is closely related to the GLI family, the final effectors of classic Hedgehog pathway. These observations lend compelling support to the application of GLI inhibitors in the treatment of AML with the aberration CBFA2T3-GLIS2. GANT61 is, nowadays, the most potent inhibitor of GLI family proteins. We exposed to GANT61 AML cell lines and primary cells positive and negative for CBFA2T3-GLIS2 and analyzed the effect on cellular viability, induction of apoptosis, cell cycle, and expression profile. As compared to AML cells without GLIS2 fusion, GANT61 exposure resulted in higher sensitivity of both cell lines and primary AML cells carrying CBFA2T3-GLIS2 to undergo apoptosis and G1 cell cycle arrest. Remarkably, gene expression studies demonstrated downregulation of GLIS2-specific signature genes in both treated cell lines and primary cells, in comparison with untreated cells. Moreover, chromatin immunoprecipitation analysis revealed direct regulation by GLIS2 chimeric protein of DNMT1 and DNMT3B, two genes implicated in important epigenetic functions. Our findings indicate that the GLI inhibitor GANT61 may be used to specifically target the CBFA2T3-GLIS2 fusion gene in pediatric AML.

  18. Hh/Gli antagonist in acute myeloid leukemia with CBFA2T3-GLIS2 fusion gene

    Directory of Open Access Journals (Sweden)

    Riccardo Masetti

    2017-01-01

    Full Text Available Abstract Background CBFA2T3-GLIS2 is a fusion gene found in 17% of non-Down syndrome acute megakaryoblastic leukemia (non-DS AMKL, FAB M7 and in 8% of pediatric cytogenetically normal acute myeloid leukemia (CN-AML, in association with several French-American-British (FAB subtypes. Children with AML harboring this aberration have a poor outcome, regardless of the FAB subtype. This fusion gene drives a peculiar expression pattern and leads to overexpression of some of Hedgehog-related genes. GLI-similar protein 2 (GLIS2 is closely related to the GLI family, the final effectors of classic Hedgehog pathway. These observations lend compelling support to the application of GLI inhibitors in the treatment of AML with the aberration CBFA2T3-GLIS2. GANT61 is, nowadays, the most potent inhibitor of GLI family proteins. Methods We exposed to GANT61 AML cell lines and primary cells positive and negative for CBFA2T3-GLIS2 and analyzed the effect on cellular viability, induction of apoptosis, cell cycle, and expression profile. Results As compared to AML cells without GLIS2 fusion, GANT61 exposure resulted in higher sensitivity of both cell lines and primary AML cells carrying CBFA2T3-GLIS2 to undergo apoptosis and G1 cell cycle arrest. Remarkably, gene expression studies demonstrated downregulation of GLIS2-specific signature genes in both treated cell lines and primary cells, in comparison with untreated cells. Moreover, chromatin immunoprecipitation analysis revealed direct regulation by GLIS2 chimeric protein of DNMT1 and DNMT3B, two genes implicated in important epigenetic functions. Conclusions Our findings indicate that the GLI inhibitor GANT61 may be used to specifically target the CBFA2T3-GLIS2 fusion gene in pediatric AML.

  19. Syndrome of alternating hypernatremia and hyponatremia after hypothalamic hamartoma surgery.

    Science.gov (United States)

    Abla, Adib A; Wait, Scott D; Forbes, Jonathan A; Pati, Sandipan; Johnsonbaugh, Roger E; Kerrigan, John F; Ng, Yu-Tze

    2011-02-01

    In this paper, the authors' goal was to describe the occurrence of alternating hypernatremia and hyponatremia in pediatric patients who underwent resection of hypothalamic hamartomas (HHs) for epilepsy. Hypernatremia in patients after pituitary or hypothalamic surgery can be caused by diabetes insipidus (DI), whereas hyponatremia can occur due to a syndrome of inappropriate antidiuretic hormone, cerebral salt wasting, or excessive administration of desmopressin (DDAVP). The triphasic response after surgery in the pituitary region can also explain variations in sodium parameters in such cases. One hundred fifty-three patients with HH who underwent surgery were enrolled in a prospective study to monitor outcomes. Of these, 4 patients (2.6%) were noted to experience dramatic alterations in serum sodium values. The medical records of these patients were identified and evaluated. Patients' ages at surgery ranged from 1.2 to 6.0 years. All patients were girls. Two patients had Delalande Type IV lesions (of 16 total Type IV lesions surgically treated) and 2 had Type III lesions (of 39 total Type III lesions). All patients had a history of gelastic seizures refractory to medication. Seizure frequency ranged from 3 to 300 per day. After surgery, all patients experienced hypernatremia and hyponatremia. The largest fluctuation in serum sodium concentration during hospitalization in a single patient was 53 mEq/L (range 123-176 mEq/L). The mean absolute difference in maximum and minimum sodium values was 38.2 mEq/L. All patients exhibited an initial period of immediate DI (independent of treatment) after surgery followed by a period of hyponatremia (independent of treatment), with a minimum value occurring between postoperative Days 5 and 8. All patients then returned to a hypernatremic state of DI, and 3 patients still require DDAVP for DI management. A second occurrence of hyponatremia lasting several days without DDAVP administration occurred in 2 patients during their

  20. DOWN SYNDROME WITH MOYAMOYA SYNDROME

    Directory of Open Access Journals (Sweden)

    Mohan Makwana

    2017-04-01

    Full Text Available BACKGROUND Moyamoya disease is a disorder of blood vessels in the brain, specifically the internal carotid arteries and the arteries that branch from them. The primary idiopathic form “moyamoya disease” has been distinguished from an associated form of “moyamoya syndrome,” in which the arterial changes are seen among patients with various syndromes or other disease processes- Down syndrome, sickle cell anaemia, neurofibromatosis type-1, congenital heart disease, fibromuscular dysplasia, activated protein C resistance, or head trauma. There have been only 47 previous cases of moyamoya syndrome in association with Down syndrome reported in the world literature. Recently, we have come across a Case of Downs’ Syndrome with Moyamoya Syndrome. Because of its rarity we want to report our case.

  1. Impaired genome maintenance suppresses the growth hormone--insulin-like growth factor 1 axis in mice with Cockayne syndrome.

    Directory of Open Access Journals (Sweden)

    Ingrid van der Pluijm

    2007-01-01

    Full Text Available Cockayne syndrome (CS is a photosensitive, DNA repair disorder associated with progeria that is caused by a defect in the transcription-coupled repair subpathway of nucleotide excision repair (NER. Here, complete inactivation of NER in Csb(m/m/Xpa(-/- mutants causes a phenotype that reliably mimics the human progeroid CS syndrome. Newborn Csb(m/m/Xpa(-/- mice display attenuated growth, progressive neurological dysfunction, retinal degeneration, cachexia, kyphosis, and die before weaning. Mouse liver transcriptome analysis and several physiological endpoints revealed systemic suppression of the growth hormone/insulin-like growth factor 1 (GH/IGF1 somatotroph axis and oxidative metabolism, increased antioxidant responses, and hypoglycemia together with hepatic glycogen and fat accumulation. Broad genome-wide parallels between Csb(m/m/Xpa(-/- and naturally aged mouse liver transcriptomes suggested that these changes are intrinsic to natural ageing and the DNA repair-deficient mice. Importantly, wild-type mice exposed to a low dose of chronic genotoxic stress recapitulated this response, thereby pointing to a novel link between genome instability and the age-related decline of the somatotroph axis.

  2. Overexpression of p53 but not Rb in the cytoplasm of neurons and small vessels in an autopsy of a patient with Cockayne syndrome.

    Science.gov (United States)

    Miyahara, Hiroaki; Itonaga, Tomoyo; Maeda, Tomoki; Izumi, Tatsuro; Ihara, Kenji

    2015-06-01

    Cockayne syndrome presents senescence-like changes starting in early infancy; however, the mechanism of premature aging remains unclear. In an autopsy of a 23-year-old woman with Cockayne syndrome, we evaluated the correlation between Cockayne pathology and the expression patterns of the senescence-associated proteins p53 and Rb. Neuropathological findings in this case revealed basal ganglia calcification, tigroid leukodystrophy, bizarre reactive astrocytes, severe cerebellar atrophy with loss of Purkinje cells, and arteriolar/neuronal calcifications in the hypothalamus. Multiple arteriolar calcifications and sclerotic changes were seen in the central nervous system and kidney, but the endothelium of the aorta and coronary arteries remained intact appropriately for the individual's age without any finding of arteriosclerosis. Overexpression of p53 protein was confirmed in the cytoplasm of neurons in the basal ganglia, thalamus, hypothalamus, hippocampus and cerebellum, of arteriolar endothelial cells of the cerebrum and renal glomerular capillaries, and of cutaneous epithelial cells. The distribution of p53 overexpression was coincident with that of pathological alteration, such as neuronal loss, calcification and atrophy. High expression of p53 was localized in the cytoplasm, not in the nucleus. In contrast to p53, Rb was not expressed in any senescence lesion. In terms of senescence, distinct differences are found among organs in a patient with Cockayne syndrome. This segmental progeria differs from natural aging, and implicates p53 overexpression in the etiology of CS. © 2014 Japanese Society of Neuropathology.

  3. S(3) HMBC: Spin-State-Selective HMBC for accurate measurement of homonuclear coupling constants. Application to strychnine yielding thirteen hitherto unreported J(HH).

    Science.gov (United States)

    Kjaerulff, Louise; Benie, Andrew J; Hoeck, Casper; Gotfredsen, Charlotte H; Sørensen, Ole W

    2016-02-01

    A novel method, Spin-State-Selective (S(3)) HMBC, for accurate measurement of homonuclear coupling constants is introduced. As characteristic for S(3) techniques, S(3) HMBC yields independent subspectra corresponding to particular passive spin states and thus allows determination of coupling constants between detected spins and homonuclear coupling partners along with relative signs. In the presented S(3) HMBC experiment, spin-state selection occurs via large one-bond coupling constants ensuring high editing accuracy and unequivocal sign determination of the homonuclear long-range relative to the associated one-bond coupling constant. The sensitivity of the new experiment is comparable to that of regular edited HMBC and the accuracy of the J/RDC measurement is as usual for E.COSY and S(3)-type experiments independent of the size of the homonuclear coupling constant of interest. The merits of the method are demonstrated by an application to strychnine where thirteen J(HH) coupling constants not previously reported could be measured. Copyright © 2015 Elsevier Inc. All rights reserved.

  4. Geometric phase effects in the H+H2 reaction: quantum wave-packet calculations of integral and differential cross sections.

    Science.gov (United States)

    Juanes-Marcos, Juan Carlos; Althorpe, Stuart C

    2005-05-22

    We report quantum wave-packet calculations on the H+H(2) reaction, aimed at resolving the controversy over whether geometric phase (GP) effects can be observed in this reaction. Two sets of calculations are reported of the state-to-state reaction probabilities, and integral and differential cross sections (ICSs and DCSs). One set includes the GP using the vector potential approach of Mead and Truhlar; the other set neglects the phase. We obtain unequivocal agreement with recent results of Kendrick [J. Phys. Chem. A 107, 6739 (2003)], predicting GP effects in the state-to-state reaction probabilities, which cancel exactly on summing the partial waves to yield the ICS. Our results therefore contradict those of Kuppermann and Wu [Chem. Phys. Lett. 349 537 (2001)], which predicted pronounced GP effects in the cross sections. We also agree with Kendrick in predicting that there are no significant GP effects in the full DCS at energies below 1.8 eV, and in the partial (0

  5. Comportamiento de las aleaciones termorresistentes AISI HH y HK-40 ante los procesos de carburización y nitruración

    Directory of Open Access Journals (Sweden)

    Eleno Alfonso-Brindis

    2001-03-01

    Full Text Available Se evalúa el comportamiento de los aceros austeníticos fundidos AISI HH y HK- 40 (de producción nacional ante los procesos de carburización y nitruración en los rangos de temperaturas desde 750 hasta 1 000 °C. Se estudia la cinética y la termodinámica de las posibles reacciones y los productos de las mismas se caracterizan mediante técnicas de Microscopía Óptica, Microscopía Electrónica de Barrido y Microanálisis (MEB-EDAX. En el análisis microscópico se observó la formación de carburos de cromo después de la carburización, mientras que la nitruración dio lugar a la formación de nitruros de cromo. Se concluye que la aleación AISI HK-40 posee una elevada resistencia intrínseca a la carburización y a la nitruración, que hace factible su empleo en componentes de hornos de soleras múltiples para la reducción de minerales lateríticos

  6. Array comparative genome hybridization analysis of acute lymphoblastic leukaemia and acute megakaryoblastic leukaemia in patients with Down syndrome.

    Science.gov (United States)

    Lo, Ken C; Chalker, Jane; Strehl, Sabine; Neat, Michael; Smith, Owen; Dastugue, Nicole; Kearney, Lyndal; Izraeli, Shai; Kempski, Helena; Cowell, John K

    2008-09-01

    Twenty-five cases of B-cell precursor acute lymphoblastic leukaemia (ALL) from Down syndrome (DS) patients were analyzed using array comparative genomic hybridization (aCGH) and compared with two other subgroups of non-DS patients with ALL; five cases with high-hyperdiploidy (HH) and nine cases with ETV6-RUNX1 positive clones. Seven cases of DS-acute megakaryoblastic leukaemia (AMKL) were also included, DS-ALL cases showed relatively stable karyotypes with cryptic losses and gains that most frequently involved chromosomes X, 1, 2, 9, 11, 16, and 17. The most consistent change involved a deletion in 2p, spanning region Chr2:88273220-91084234, which in some cases appeared to be homozygous. ALL from non-DS patients showed a similar overall karyotypic stability, although gains of chromosome 21 were infrequent in the ETV6-RUNX1 positive cases. The most consistent change in this group involved a 12p deletion, where Chr12:10383878-16017619 defined the common region of overlap. All HH-ALL karyotypes showed variable gains of chromosome 21. This overall analysis supports the suggestion that, although constitutional trisomy 21 predisposes to ALL/AMKL, the cytogenetic changes associated with DS-ALL in particular, are most similar to those found in non-DS ETV6-RUNX1 positive ALL. The HH-ALL group, however, undergoes distinct karyotypic evolution not dependent on chromosome translocation/deletion events.

  7. METABOLIC SYNDROME

    OpenAIRE

    Dikanović, Marinko

    2015-01-01

    Metabolic syndrome is a cluster of disorders that include hyperlipidemia, inadequate insulin resistance, hypertension, and abdominal type obesity. Patients who suffer from this syndrome have an increased risk for heart disease and blood vessel disease, stroke and type II diabetes. The world's leading healthcare institutions also disagree on the exact definition of this organization poremećaja. NCEP (National Cholesterol Education Program) defines metabolic syndrome as a situation in which the...

  8. Urofacial syndrome

    Directory of Open Access Journals (Sweden)

    Kamal F Akl

    2012-01-01

    Full Text Available The urofacial syndrome is characterized by functional obstructive uropathy asso-ciated with an inverted smile. The importance of the subject is that it sheds light, not only on the muscles of facial expression, but also on the inheritance of voiding disorders and lower urinary tract malformations. We report a 10-year-old-male patient who had the urofacial syndrome. Early diagnosis of the urofacial syndrome is important to avoid upper urinary tract damage and renal failure.

  9. Revesz syndrome

    Directory of Open Access Journals (Sweden)

    Dayane Cristine Issaho

    2015-04-01

    Full Text Available Revesz syndrome is a rare variant of dyskeratosis congenita and is characterized by bilateral exudative retinopathy, alterations in the anterior ocular segment, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, bone marrow failure, cerebral calcification, cerebellar hypoplasia and psychomotor retardation. Few patients with this syndrome have been reported, and significant clinical variations exist among patients. This report describes the first Brazilian case of Revesz syndrome and its ocular and clinical features.

  10. [Caroli's syndrome].

    Science.gov (United States)

    Li, Ji; Qiu, Zheng-Qing; Wei, Min

    2009-01-01

    Caroli's syndrome is a rare autosomal recessive hereditary disease. Here a case of Caroli's syndrome associated with medullary sponge kidney was reported. The patient was a 2-years and 10 months-old boy. He presented with hepatosplenomegaly. Fever, abdominal pain or jaundice was not found. The imaging examination showed intrahepatic bile duct dilation, splenomegaly, medullary sponge kidney and nephrocalcinosis. After introduction of the case, this paper reviewed the clinical characteristics, diagnosis and treatment of Caroli's syndrome.

  11. Troyer Syndrome

    Science.gov (United States)

    ... Syndrome Information Page NINDS Whiplash Information Page NINDS Infantile Spasms Information Page NINDS Myotonia Congenita Information Page NINDS Ataxias and Cerebellar or Spinocerebellar Degeneration Information Page Congenital ...

  12. [Cardiorenal syndromes].

    Science.gov (United States)

    Késöi, István; Sági, Balázs; Vas, Tibor; Pintér, Tünde; Kovács, Tibor; Wittmann, István; Nagy, Judit

    2011-09-18

    Cardiac and kidney diseases are very common, and increasingly coexist. Classification for cardiorenal syndrome and for its specific subtypes has been developed and published recently by a consensus group of the Acute Dialysis Quality Initiative. Cardiorenal syndromes have been classified according to whether the impairment of each organ is primary, secondary or whether heart and kidney dysfunction occurs simultaneously as a systemic disease. The different syndromes were classified into five subtypes. Type-1: acute cardiorenal syndrome: an abrupt worsening of cardiac function leading to acute kidney injury and/or dysfunction. Type-2: chronic cardiorenal syndrome: chronic abnormalities in cardiac function causing kidney injury and/or dysfunction. Type-3: acute renocardiac syndrome: abrupt worsening of kidney function leading to heart injury and/or dysfunction. Type-4: chronic renocardiac syndrome: chronic kidney diseases leading to heart injury, disease and/or dysfunction. Type-5: secondary cardiorenal syndrome: acute or chronic systemic diseases leading to simultaneous injury and/or dysfunction of heart and kidney. The identification of patients and the pathophysiological mechanisms underlying each syndrome subtype will help cardiologists, nephrologists and physicians working on intensive care units to characterize groups of their patients with cardiac and renal impairment and to provide a more accurate treatment for them.

  13. Down Syndrome: Eye Problems

    Science.gov (United States)

    ... En Español Read in Chinese What causes Down syndrome? Down syndrome is caused by a duplication of all ... in persons with Down syndrome. How common is Down syndrome? The frequency of Down syndrome is approximately 1 ...

  14. What Is Usher Syndrome?

    Science.gov (United States)

    ... Action You are here Home › Retinal Diseases Listen Usher Syndrome What is Usher syndrome? How is Usher syndrome ... available? Are there any related diseases? What is Usher Syndrome? Usher syndrome is an inherited condition characterized by ...

  15. Russell-Silver syndrome

    Science.gov (United States)

    Silver-Russell syndrome; Silver syndrome; RSS; Russell-Silver syndrome ... One in 10 children with this syndrome has a problem involving chromosome 7. In other people with the syndrome, it may affect chromosome 11. Most of the time, it ...

  16. Treatment Options for Adult Soft Tissue Sarcoma

    Science.gov (United States)

    ... Li-Fraumeni syndrome . Werner syndrome (adult progeria). Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Other risk factors ... ray : An x-ray of the organs and bones inside the chest. An x-ray is a ...

  17. Treatment Option Overview (Adult Soft Tissue Sarcoma)

    Science.gov (United States)

    ... Li-Fraumeni syndrome . Werner syndrome (adult progeria). Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Other risk factors ... ray : An x-ray of the organs and bones inside the chest. An x-ray is a ...

  18. A Rare Syndrome: Balint Syndrome

    OpenAIRE

    Gülnur Tekgöl Uzuner; Özge Keleş; Nevzat Uzuner

    2016-01-01

    Balint’s syndrome is a rare disorder affecting the ability to perceive the visual field as a whole, most commonly following damage to the bilateral occipital and parietal regions. This syndrome has three components as simultanagnosia, optic ataxia, and oculomotor apraxia. Simultanagnosia play a key role in this syndrome. Sixty-two years old male patient who applied the blindness symptom has been evaluated in outpatient clinic. We observed that there are some deficits in perceive of visual fie...

  19. Cockayne syndrome.

    Science.gov (United States)

    Levinson, E D; Zimmerman, A W; Grunnet, M L; Lewis, R A; Spackman, T J

    1982-12-01

    The diagnosis of Cockayne syndrome was established with the aid of cranial computed tomography (CT) in a child with growth deficiency, mental retardation, and neurologic findings which are typical for this rare childhood disorder. Calcification of basal ganglia and hydrocephalus ex vacuo are neuropathologic characteristics of Cockayne syndrome which may be present on CT as early as 3 years of age.

  20. Ascher syndrome

    Directory of Open Access Journals (Sweden)

    Zhifang Zhai

    2015-03-01

    Full Text Available Ascher syndrome is a rare, benign skin disorder characterized by a double upper lip, blepharochalasis, and nontoxic enlargement of the thyroid gland. The exact cause is unknown, but it is considered to be a hereditary disease with an autosomal dominant trait. We report here a case of forme fruste Ascher syndrome in a 29-year-old man.

  1. Ambras syndrome

    Directory of Open Access Journals (Sweden)

    Sudhir Malwade

    2015-01-01

    Full Text Available Ambras syndrome, a form of congenital hypertrichosis lanuginosa, is extremely rare in neonates. It is characterized by typical pattern of hair distribution, dysmorphic facial features and a familial pattern of inheritance. We report a case of Ambras syndrome in a preterm neonate with history of consanguinity and positive family history.

  2. Antiphospholipid syndrome

    DEFF Research Database (Denmark)

    Cervera, Ricard; Piette, Jean-Charles; Font, Josep

    2002-01-01

    To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression.......To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression....

  3. Kounis syndrome

    African Journals Online (AJOL)

    Kounis syndrome is characterised by a group of symptoms that manifest as unstable vasospastic or nonvasospastic angina secondary ... to coronary arterial involvement, Kounis syndrome comprises other arterial systems with similar physiologies, such as mesenteric and cerebral ... a likely diagnosis and blood was sent for.

  4. Cardiorenal syndrome

    OpenAIRE

    Schetz, Miet

    2009-01-01

    Kidney dysfunction in patients with heart failure and cardiovascular disorders in patients with chronic kidney disease are common. A recently proposed consensus definition of cardiorenal syndrome stresses the bidirectional nature of these heart-kidney interactions. The treatment of cardiorenal syndrome is challenging, however, promising new therapeutic options are currently being investigated in recent and ongoing clinical trials.

  5. Tourette Syndrome

    Science.gov (United States)

    If you have Tourette syndrome, you make unusual movements or sounds, called tics. You have little or no control over them. Common tics are throat- ... spin, or, rarely, blurt out swear words. Tourette syndrome is a disorder of the nervous system. It ...

  6. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    George Renu

    1993-01-01

    Full Text Available A case of proteus syndrome in a 20 year old male is repoted. Hemihypertrophy, asymmetric megalodactyly, linear epidermal naevus, naevus flammeus, angiokeratoma, lymphangioma circumscriptum, thickening of the palms and soles, scoliosis and varicose veins were present. There are only few reports of these cases in adults. The syndrome has not been reported from India.

  7. Marshall's syndrome*

    Science.gov (United States)

    Fontenelle, Elisa; de Almeida, Ana Paula Moura; Souza, Gabriela Maria Assis de Almeida

    2013-01-01

    Marshall´s syndrome is a form of acquired cutis laxa without systemic involvement, which is preceded by an inflammatory dermatitis with a neutrophilic component. We report a case of a 6-year-old boy with clinical and histopathological features of this syndrome. The etiology remains unknown and there is no definitive treatment. PMID:23739715

  8. TAFRO Syndrome.

    Science.gov (United States)

    Igawa, Takuro; Sato, Yasuharu

    2018-02-01

    TAFRO syndrome is a newly recognized variant of idiopathic multicentric Castleman disease (iMCD) that involves a constellation of syndromes: thrombocytopenia (T), anasarca (A), fever (F), reticulin fibrosis (R), and organomegaly (O). Thrombocytopenia and severe anasarca accompanied by relatively low serum immunoglobulin levels are characteristic clinical findings of TAFRO syndrome that are not present in iMCD-not otherwise specified (iMCD-NOS). Lymph node biopsy is recommended to exclude other diseases and to diagnose TAFRO syndrome, which reveals characteristic histopathological findings similar to hyaline vascular-type CD. TAFRO syndrome follows a more aggressive course, compared with iMCD-NOS, and there is no standard treatment. Copyright © 2017 Elsevier Inc. All rights reserved.

  9. [CREST syndrome].

    Science.gov (United States)

    Meyer, Olivier

    2002-05-01

    CREST syndrome has been described as a form of progressive systemic sclerosis in which there is relatively limited involvement of the skin, prominence of calcinosis, Raynaud's phenomenon, esophageal dysfunction and telangiectasia. The acronym CREST was coined in 1964 by Winterbauer in the USA but the very first case report was by French physicians Thibierge and Weissenbach in 1910. Antinuclear antibodies recognizing chromosomal centromere proteins are characteristic of CREST syndrome and are present in more than 50% of the cases. The prognosis of CREST syndrome is relatively good with a long lasting disease duration (>10 years). Two complications are seldom associated with CREST syndrome: digital gangrene with finger losses and pulmonary hypertension (3 to 14% of CREST syndrome). Pulmonary hypertension is a very late event and the prognosis is very severe (mortality rate of 50% after 2 years).

  10. Fast Magic-Angle Spinning Three-Dimensional NMR Experiment for Simultaneously Probing H-H and N-H Proximities in Solids.

    Science.gov (United States)

    Reddy, G N Manjunatha; Malon, Michal; Marsh, Andrew; Nishiyama, Yusuke; Brown, Steven P

    2016-12-06

    A fast magic-angle spinning (MAS, 70 kHz) solid-state NMR experiment is presented that combines 1H Double-Quantum (DQ) and 14N-1H HMQC (Heteronuclear Multiple-Quantum Coherence) pulse-sequence elements, so as to simultaneously probe H-H and N-H proximities in molecular solids. The proposed experiment can be employed in both two-dimensional (2D) and three-dimensional (3D) versions: first, a 2D 14N HMQC-filtered 1H-DQ experiment provides specific DQ-SQ correlation peaks for proton pairs that are in close proximities to the nitrogen sites, thereby achieving spectral filtration. Second, a proton-detected three-dimensional (3D) 1H(DQ)-14N(SQ)-1H(SQ) experiment correlates 1H(DQ)-1H(SQ) chemical shifts with 14N shifts such that longer range N···H-H correlations are observed between protons and nitrogen atoms with internuclear NH distances exceeding 3 Å. Both 2D and 3D versions of the proposed experiment are demonstrated for an amino acid hydrochloride salt, l-histidine·HCl·H2O, and a DNA nucleoside, guanosine·2H2O. In the latter case, the achieved spectral filtration ensures that DQ cross peaks are only observed for guanine NH and CH8 1H resonances and not ribose and water 1H resonances, thus providing insight into the changes in the solid-state structure of this hydrate that occur over time; significant changes are observed in the NH and NH21H chemical shifts as compared to the freshly recrystallized sample previously studied by Reddy et al., Cryst. Growth Des. 2015, 15, 5945.

  11. [Syndromic autism: II. Genetic syndromes associated with autism].

    Science.gov (United States)

    Artigas-Pallarés, J; Gabau-Vila, E; Guitart-Feliubadaló, M

    2005-01-15

    In this study we report on the different genetic syndromes in which autism has been described as one of the possible manifestations. Certain genetic syndromes are providing us with extremely valuable information about the role played by genetics in autism. This is the case of the following syndromes: Angelman syndrome, Prader-Willi syndrome, 15q11-q13 duplication, fragile X syndrome, fragile X premutation, deletion of chromosome 2q, XYY syndrome, Smith-Lemli-Opitz syndrome, Apert syndrome, mutations in the ARX gene, De Lange syndrome, Smith-Magenis syndrome, Williams syndrome, Rett syndrome, Noonan syndrome, Down syndrome, velo-cardio-facial syndrome, myotonic dystrophy, Steinert disease, tuberous sclerosis, Duchenne's disease, Timothy syndrome, 10p terminal deletion, Cowden syndrome, 45,X/46,XY mosaicism, Myhre syndrome, Sotos syndrome, Cohen syndrome, Goldenhar syndrome, Joubert syndrome, Lujan-Fryns syndrome, Moebius syndrome, hypomelanosis of Ito, neurofibromatosis type 1, CHARGE syndrome and HEADD syndrome.

  12. Neuroacanthocytosis Syndromes

    Directory of Open Access Journals (Sweden)

    Walker Ruth H

    2011-10-01

    Full Text Available Abstract Neuroacanthocytosis (NA syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome which have a Huntington´s disease-like phenotype consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. In addition, cardiomyopathy may occur in McLeod syndrome. Acanthocytes are also found in a proportion of patients with autosomal dominant Huntington's disease-like 2, autosomal recessive pantothenate kinase-associated neurodegeneration and several inherited disorders of lipoprotein metabolism, namely abetalipoproteinemia (Bassen-Kornzweig syndrome and hypobetalipoproteinemia leading to vitamin E malabsorption. The latter disorders are characterized by a peripheral neuropathy and sensory ataxia due to dorsal column degeneration, but movement disorders and cognitive impairment are not present. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known. The association of the acanthocytic membrane abnormality with selective degeneration of the basal ganglia, however, suggests a common pathogenetic pathway. Laboratory tests include blood smears to detect acanthocytosis and determination of serum creatine kinase. Cerebral magnetic resonance imaging may demonstrate striatal atrophy. Kell and Kx blood group antigens are reduced or absent in McLeod syndrome. Western blot for chorein demonstrates absence of this protein in red blood cells of chorea-acanthocytosis patients. Specific genetic testing is possible in all NA syndromes

  13. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine; Bødtger, Uffe; Heltberg, Ole

    2014-01-01

    Lemierre's syndrome is an often un-diagnosed disease seen in previously healthy young subjects, presenting with symptoms of pharyngitis, fever and elevated markers of inflammation. The syndrome is characterised by infectious thrombosis of the jugular vein due to infection with Fusobacteria, causing...... a variety of infectious complications. Rapid diagnosis and treatment is necessary to avoid severe complications or death. Close collaboration with local microbiologist is pivotal. Treatment consists of longterm treatment with penicillin and metronidazole. This is a case report of Lemierre's syndrome....

  14. Goldenhar syndrome

    Directory of Open Access Journals (Sweden)

    Neeraj Sharma

    2013-01-01

    Full Text Available Goldenhar syndrome is a syndrome of complex structures developing from first and second branchial arches during blastogenesis. The etiology of this rare disease is not fully understood, as it has shown itself variable genetically and of unclear causes. The disorder is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. Here we present a unique case of Goldenhar syndrome with absence of left condyle, hypoplasia of the zygomatic bone, no pneumatization of the mastoid process, underdeveloped mandible, bifid tongue and the skin tags in the preauricular area.

  15. Moebius syndrome.

    OpenAIRE

    J Gordon Millichap

    1990-01-01

    Brain stem calcification on CT scan, suggesting prenatal brain stem ischemia, is reported in an infant with Moebius syndrome examined in the Department of Pediatrics and Neonatal Medicine, State University of Gent, Gent, Belgium.

  16. Sjogren's Syndrome

    Science.gov (United States)

    ... the set located behind your jaw and in front of your ears Skin rashes or dry skin Vaginal dryness Persistent dry cough Prolonged fatigue Causes Sjogren's syndrome is an autoimmune disorder. Your immune system mistakenly ...

  17. Fahr's Syndrome

    Science.gov (United States)

    ... from the National Library of Medicine’s MedlinePlus Genetic Brain Disorders Show More Show Less ... Definition Fahr's Syndrome is a rare, genetically dominant, inherited neurological disorder characterized by abnormal deposits of ...

  18. Bart syndrome

    Directory of Open Access Journals (Sweden)

    Gaikwad Anil

    1993-01-01

    Full Text Available An infant presenting with extensive aplasia cutis on lower extremities later developed blisters on skin and mucous membrane. Clinical features and histopathological examination of skin favoured the diagnosis of Bart syndrome.

  19. [Heptopulmonary syndrome].

    Science.gov (United States)

    Cuadrado, Antonio; Díaz, Ainhoa; Iruzubieta, Paula; Salcines, José Ramón; Crespo, Javier

    2015-01-01

    Hepatopulmonary syndrome is characterized by the presence of liver disease, pulmonary vascular dilatations, and arterial hypoxemia. It is usually associated with cirrhosis of any origin, but has been described in other liver diseases, both acute and chronic, and not always associated with portal hypertension. The gold standard method to detect pulmonary vascular dilations is contrast enhancement echocardiography with saline and is essential for the diagnosis of hepatopulmonary syndrome. These dilatations reflect changes in the pulmonary microvasculature (vasodilatation, intravascular monocyte accumulation, and angiogenesis) and induce a ventilation/perfusion mismatch, or even true intrapulmonary shunts, which eventually trigger hypoxemia. This syndrome worsens patients' prognosis and impairs their quality of life and may lead to the need for liver transplantation, which is the only effective and definitive treatment. In this article, we review the etiological, pathophysiological, clinical and therapeutic features of this syndrome. Copyright © 2015 Elsevier España, S.L.U. and AEEH y AEG. All rights reserved.

  20. Cushing's Syndrome

    Science.gov (United States)

    Cushing's syndrome is a hormonal disorder. The cause is long-term exposure to too much cortisol, a ... medicine to treat an inflammatory disease leads to Cushing's. Some kinds of tumors produce a hormone that ...

  1. Gerstmann's Syndrome

    Science.gov (United States)

    ... drawings. Frequently, there is also an impairment in reading. Children with a high level of intellectual functioning as well as those with brain damage may be affected with the disorder. × Definition Gerstmann's syndrome is a cognitive impairment that results ...

  2. Paraneoplastic Syndromes

    Science.gov (United States)

    ... Division of Neuroscience Director, NIH BRAIN Initiative® Health Scientist Administrator Channels Synapses Circuits Cluster Scientific Director, Division of Intramural Research Featured Director's Message menu search Enter Search Term Submit Search Paraneoplastic Syndromes Information ...

  3. Antiphospholipid Syndrome

    Science.gov (United States)

    ... Division of Neuroscience Director, NIH BRAIN Initiative® Health Scientist Administrator Channels Synapses Circuits Cluster Scientific Director, Division of Intramural Research Featured Director's Message menu search Enter Search Term Submit Search Antiphospholipid Syndrome Information ...

  4. Cushing's Syndrome

    Science.gov (United States)

    ... hormone. People suffering from depression, alcoholism, malnutrition, or panic disorders also have increased cortisol levels. When the ... five times more often than men. Ectopic ACTH Syndrome Some benign or, more often, cancerous tumors that ...

  5. Reye's Syndrome

    Science.gov (United States)

    ... vomiting Diarrhea Reye's syndrome Symptoms & causes Diagnosis & treatment Advertisement Mayo Clinic does not endorse companies or products. ... a Job Site Map About This Site Twitter Facebook Google YouTube Pinterest Mayo Clinic is a not- ...

  6. Ohtahara Syndrome

    Science.gov (United States)

    ... a focal brain lesion (damage contained to one area of the brain) surgery may be beneficial. Other therapies are ... Wernicke-Korsakoff Syndrome Information Page NINDS Whiplash Information Page ...

  7. Noonan syndrome

    Science.gov (United States)

    ... chest shape (most often a sunken chest called pectus excavatum) Webbed and short-appearing neck Exams and Tests ... to consider genetic counseling before having children. Images Pectus excavatum References Ali O, Donohoue PA. Noonan syndrome. In: ...

  8. Klinefelter syndrome

    Science.gov (United States)

    Infertility is the most common symptom of Klinefelter syndrome. Symptoms may include any of the following: Abnormal body proportions (long legs, short trunk, shoulder equal to hip size) Abnormally large breasts ( gynecomastia ) ...

  9. Angelman syndrome

    Science.gov (United States)

    ... the gene Other tests may include: Brain MRI EEG Treatment There is no cure for Angelman syndrome. ... nih.gov/pubmed/20301323 . Accessed August 1, 2015. Review Date 8/1/2015 Updated by: Chad Haldeman- ...

  10. Barth Syndrome

    DEFF Research Database (Denmark)

    Saric, Ana; Andreau, Karine; Armand, Anne-Sophie

    2016-01-01

    Mutations in the gene encoding the enzyme tafazzin, TAZ, cause Barth syndrome (BTHS). Individuals with this X-linked multisystem disorder present cardiomyopathy (CM) (often dilated), skeletal muscle weakness, neutropenia, growth retardation, and 3-methylglutaconic aciduria. Biopsies of the heart,...

  11. Down Syndrome

    Science.gov (United States)

    ... programs can help improve skills. They may include speech, physical, occupational, and/or educational therapy. With support and treatment, many people with Down syndrome live happy, productive lives. NIH: National Institute of Child Health and Human Development

  12. Brugada Syndrome

    Science.gov (United States)

    ... history of survived sudden cardiac arrest Because of the nature of the heart rhythm abnormality, medications usually aren’t used to treat Brugada syndrome. A medical device called an implantable cardioverter-defibrillator is the ...

  13. Marfan Syndrome

    Science.gov (United States)

    ... whether you have Marfan syndrome. Medical and Family Histories Your doctor will ask about your medical history ... and football. You also may need to avoid sports that involve physical contact with other players or ...

  14. Down syndrome

    Science.gov (United States)

    ... that may cause problems with chewing Underactive thyroid ( hypothyroidism ) Exams and Tests A doctor can often make ... those with Down syndrome to: Be taught about pregnancy and taking the proper precautions Learn to advocate ...

  15. Turner Syndrome

    Science.gov (United States)

    ... have an increased risk of an underactive thyroid (hypothyroidism) due to the autoimmune disorder Hashimoto's thyroiditis. They also have an increased risk of diabetes. Some women with Turner syndrome have gluten intolerance (celiac disease) or inflammatory bowel disease. Skeletal ...

  16. Marfan syndrome

    Science.gov (United States)

    ... at least once every year. Alternative Names Aortic aneurysm - ... syndrome. In: Kliegman RM, Stanton BF, St Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics . 20th ed. Philadelphia, PA: Elsevier; 2016:chap 702. ...

  17. Horner syndrome

    Science.gov (United States)

    ... whether treatment of the cause is successful. Possible Complications There are no direct complications of Horner syndrome ... Jankovic J, Mazziotta JC, Pomeroy SL, eds. Bradley's Neurology in Clinical Practice . 7th ed. Philadelphia, PA: Elsevier; ...

  18. Dravet Syndrome

    Science.gov (United States)

    ... NINDS Focus on Research Alzheimer's & Related Dementias Bioengineering Epilepsy Health Disparities Neural Interfaces Parkinson's Disease Spinal Cord ... basic and clinical research on all types of epilepsy, including Dravet syndrome. Study of the genetic defects ...

  19. Tourette Syndrome

    Science.gov (United States)

    ... Barré Syndrome Information Page Headache Information Page Hemicrania Continua Information Page Hemifacial Spasm Information Page Hereditary Spastic ... the Spotlight Find NINDS Clinical Trials Patient & Caregiver Education Fact Sheets Hope Through Research Know Your Brain ...

  20. Cockayne syndrome

    DEFF Research Database (Denmark)

    Karikkineth, Ajoy C; Scheibye-Knudsen, Morten; Fivenson, Elayne

    2017-01-01

    Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties...

  1. Goldenhar Syndrom

    Directory of Open Access Journals (Sweden)

    fariba Tarhani

    2012-03-01

    Conclusion: Goldenhar Syndrome is a congenital abnormally which manly affects face, but another organs involvement should be considered .Cardiac problems are the main causes of death in these patients.

  2. Cockayne Syndrome

    Directory of Open Access Journals (Sweden)

    Sharma Nand Lal

    2003-01-01

    Full Text Available Cockayne syndrome is a rare autosomal recessive disease of complex clinical phenotype that usually presents in early childhood. Characteristically the child presents with delayed milestones, growth and mental retardation associated with typical facies, photosensitivity, retinitis pigmentosa, deafness and ataxia. The various features are attributed to abnormal transcription rather than abnormal repair of photodamaged DNA. Based on clinical criteria a classical case of Cockayne syndrome in a 7 year old girl is described.

  3. Reye's Syndrome

    OpenAIRE

    Malcolmson, C.H.

    1987-01-01

    The author defines and discusses Reye's syndrome and the hypotheses relating to its causes and associating its incidence with that of chickenpox and influenza A and B. The recent decline in the incidence of Reye's syndrome appears to be related to the reduced use of Aspirin in children and adolescents. Although evidence so far is circumstantial, North American P(a)ediatric Associations have indicated that Aspirin should not be used to control fever in children who have viral infections but es...

  4. Binder syndrome.

    Science.gov (United States)

    Chummun, Shaheel; McLean, N R; Nugent, M; Anderson, P J; David, David J

    2012-07-01

    Patients with chondrodysplasia punctata (CDP) usually present with Binder-type features, and often CDP is misdiagnosed as Binder syndrome. This study reviewed the management and outcome of patients with Binder syndrome and CDP in a multidisciplinary setting. The notes and radiographs of the patients managed at the Australian Craniofacial Unit with a multidisciplinary setting since 1976 were reviewed, and data were collected on patient demographics, associated medical and surgical problems, subsequent management, and complications. Seventy-seven patients were treated over the 30-year period (5 patients were lost to follow-up); of the remaining 72 patients, 60 (83%) had Binder syndrome, and 12 (17%) were patients with CDP. Forty were males, and 32 were females, with an age range of 6 months to 47 years. Thirteen patients (18%) had a strong family history, and 65 patients (90%) have so far undergone surgical correction, and of those, 35 (54%) have completed their treatment, the longest follow-up time being 18 years. The mean number of surgical procedures was 2.4, and 18 patients (28%) had postoperative complications, which included partial necrosis of the maxilla, osteomyelitis of the mandible, facial nerve and inferior alveolar nerve neuropraxia, nasal bone graft exposure, and cellulitis. Because of the phenotypic characteristics shared by both Binder syndrome and CDP, it is most likely that Binder syndrome is not a syndrome, nor is it an entity, but most likely to be an "association." We would advocate that these patients should be managed in a multidisciplinary setting.

  5. What Is Down Syndrome?

    Science.gov (United States)

    ... the Likelihood of Having a Child with Down Syndrome? Down syndrome occurs in people of all races and ... care and treatment of babies born with Down syndrome. Does Down Syndrome Run in Families? All 3 types of ...

  6. Proteus Syndrome Foundation

    Science.gov (United States)

    ... Gift Stock Gift Sunshine Society Contact Privacy Policy Proteus Syndrome Foundation CLICK HERE to watch Dr. Leslie ... 1 Trial with ARQ 092 in Proteus Syndrome Proteus Syndrome Patient Registry The Proteus Syndrome Foundation Contact ...

  7. Obesity Hypoventilation Syndrome

    Science.gov (United States)

    ... Home / Obesity Hypoventilation Syndrome Obesity Hypoventilation Syndrome Also known as Pickwickian Syndrome What ... your neck is larger than normal. Complications of Obesity Hypoventilation Syndrome When left untreated, OHS can cause ...

  8. Metabolic Syndrome (For Parents)

    Science.gov (United States)

    ... Needs a Kidney Transplant Vision Facts and Myths Metabolic Syndrome KidsHealth > For Parents > Metabolic Syndrome Print A A ... this is a condition called metabolic syndrome . About Metabolic Syndrome Not to be confused with metabolic disease (which ...

  9. What is Metabolic Syndrome?

    Science.gov (United States)

    ... Research Home / Metabolic Syndrome Metabolic Syndrome What Is Metabolic syndrome is the name for a group of risk ... three metabolic risk factors to be diagnosed with metabolic syndrome. A large waistline. This also is called abdominal ...

  10. Milk-alkali syndrome

    Science.gov (United States)

    Calcium-alkali syndrome; Cope syndrome; Burnett syndrome; Hypercalcemia; Calcium metabolism disorder ... Milk-alkali syndrome is almost always caused by taking too many calcium supplements, usually in the form of calcium carbonate. Calcium ...

  11. Rett Syndrome Fact Sheet

    Science.gov (United States)

    ... can I get more information? What is Rett syndrome? Rett syndrome is a neurodevelopmenal disorder that affects girls ... as “asymptomatic female carriers.” top Who gets Rett syndrome? Rett syndrome is estimated to affect one in every ...

  12. Rett Syndrome: Overview

    Science.gov (United States)

    ... Syndrome Share Facebook Twitter Pinterest Email Print Rett Syndrome Rett syndrome is a neurological and developmental genetic disorder ... ultimately reverse the disorder's effects. Common Names Rett syndrome Rett disorder RTT Medical or Scientific Names Autism-dementia- ...

  13. Down Syndrome (For Kids)

    Science.gov (United States)

    ... Skating Living With Stepparents Be a Green Kid Down Syndrome KidsHealth > For Kids > Down Syndrome Print A A ... skills. continue Do a Lot of People Have Down Syndrome? Down syndrome is not contagious , so you can' ...

  14. A Rare Syndrome: Balint Syndrome

    Directory of Open Access Journals (Sweden)

    Gülnur Tekgöl Uzuner

    2016-04-01

    Full Text Available Balint’s syndrome is a rare disorder affecting the ability to perceive the visual field as a whole, most commonly following damage to the bilateral occipital and parietal regions. This syndrome has three components as simultanagnosia, optic ataxia, and oculomotor apraxia. Simultanagnosia play a key role in this syndrome. Sixty-two years old male patient who applied the blindness symptom has been evaluated in outpatient clinic. We observed that there are some deficits in perceive of visual field rather than blindness in neurologic examination of the patient. He had simultanagnosia, optic ataxia and oculomotor apraxia. There are multiple infarcts in bilaterally occipital and parietal regions in the patient’s cerebral MRI. In this case, we have present a rare disorder of the Balint’s syndrome.

  15. Nevoid basal cell carcinoma syndrome (Gorlin syndrome)

    National Research Council Canada - National Science Library

    Lo Muzio, Lorenzo

    2008-01-01

    Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms...

  16. Pfeiffer syndrome

    Directory of Open Access Journals (Sweden)

    Fryns Jean-Pierre

    2006-06-01

    Full Text Available Abstract Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three clinical subtypes. Type 1 "classic" Pfeiffer syndrome involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities; it is associated with normal intelligence and generally good outcome. Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Clinical overlap between the three types may occur. Pfeiffer syndrome affects about 1 in 100,000 individuals. The disorder can be caused by mutations in the fibroblast growth factor receptor genes FGFR-1 or FGFR-2. Pfeiffer syndrome can be diagnosed prenatally by sonography showing craniosynostosis, hypertelorism with proptosis, and broad thumb, or molecularly if it concerns a recurrence and the causative mutation was found. Molecular genetic testing is important to confirm the diagnosis. Management includes multiple-staged surgery of craniosynostosis. Midfacial surgery is performed to reduce the exophthalmos and the midfacial hypoplasia.

  17. Adenovirus vector-mediated Gli1 siRNA induces growth inhibition and apoptosis in human pancreatic cancer with Smo-dependent or Smo-independent Hh pathway activation in vitro and in vivo.

    Science.gov (United States)

    Guo, Jiefang; Gao, Jun; Li, Zhaoshen; Gong, Yanfang; Man, Xiaohua; Jin, Jing; Wu, Hongyu

    2013-10-10

    Activation of Hedgehog (Hh) signaling pathway is a core molecular mechanism in pancreatic carcinogenesis. However, the inhibition of upstream Hh signals does not inhibit the growth of a subset of pancreatic cancer (PC). This study was to examine the effect of siRNA targeting Gli1, the downstream component of Hh pathway, on PC cells and to provide some insight into the underlying mechanisms. A Gli1siRNA-expressing adenovirus (Ad-U6-Gli1siRNA) was constructed, and its effect on PC cells was investigated in vitro and in vivo. Gli1 was expressed in 83.3% (20/24) PC tissues, whereas no expression was found in normal pancreatic ductal epithelium. Gli1 was expressed in SW1990 and CFPAC cells in which Smo was completely absent, as well as in PaTu8988, Panc-1 and BxPC-3 cells in which Smo was concomitantly present. Ad-U6-Gli1siRNA induced cell growth inhibition, strong G0/G1 cell cycle arrest and apoptosis in all five human PC cell lines. Meanwhile, Ad-U6-Gli1siRNA significantly suppressed the expression of Gli1, Ptch1 and two target genes, Cyclin D2 and Bcl-2, in all five lines. Furthermore, two tumor xenograft nude mice models were established by subcutaneously injecting Smo-positive Panc-1 cells or Smo-negative SW1990 cells. The in vivo experimental results demonstrated that Ad-U6-Gli1siRNA inhibited the growth of both Panc1-derived and SW1990-derived tumors and induced cell apoptosis. Our study indicates that Gli1-targeting siRNA could induce growth inhibition and apoptosis in PC through knockdown of Gli1 and its target genes; and this method may represent a more effective therapeutic strategy for PC with Smo-dependent or Smo-independent Hh pathway activation. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

  18. Transition metal complexes with thiosemicarbazide-based ligands. Part 60. Reactions of copper(II bromide with pyridoxal S-methylisothiosemicarbazone (PLITSC. Crystal structure of [Cu(PLITSC−HH2O]Br•H2O

    Directory of Open Access Journals (Sweden)

    Leovac Vukadin M.

    2014-01-01

    Full Text Available The synthesis and structural characterization of a square-planar copper(II complex with pyridoxal S-methylisothiosemicarbazone (PLITSC of the formula [Cu(PLITSC−HH2O]Br•H2O (1 as the first Cu(II complex with monoanionic form of this ligand were described. Complex 1 together with two previously synthesized complexes [Cu(PLITSCBr2] (2 and [Cu(PLITSCBr(MeOH]Br (3 were characterized by elemental analysis, IR and electronic spectra and also by the methods of thermal analysis, conductometry and magnetochemistry. [Projekat Pokrajisnkog sekretarijata za nauku i tehnoloski razvoj Vojvodine i Ministarstva nauke Republike Srbije, br. 172014

  19. Nevoid basal cell carcinoma syndrome

    Science.gov (United States)

    NBCC syndrome; Gorlin-Goltz syndrome; Basal cell nevus syndrome; BCNS; Basal cell cancer - nevoid basal cell carcinoma syndrome ... Nevoid basal cell carcinoma nevus syndrome is a rare genetic ... syndrome is known as PTCH ("patched"). The gene is passed down ...

  20. Refeeding syndrome.

    Science.gov (United States)

    Tripathy, Swagata; Mishra, Padmini; Dash, S C

    2008-07-01

    We report a case of a fifty-year-old male who was admitted with a three month history of increasing weakness, prostration, decreasing appetite and inability to swallow. The patient was a chronic alcoholic, unemployed, and of very poor socioeconomic background. The patient was initially investigated for upper GI malignancy, Addisons disease, bulbar palsy and other endocrinopathies. Concurrent management was started for severe electrolyte abnormalities and enteral nutritional supplementation was begun. By the fourth day of feeding patient developed severe hypophosphatemia and other life-threatening features suggesting refeeding syndrome. The patient was managed for the manifestations of refeeding syndrome. A final diagnosis of chronic alcoholic malnutrition with refeeding syndrome was made. Refeeding of previously starving patients may lead to a variety of complications including sudden death.

  1. CLOVES syndrome.

    Science.gov (United States)

    Bloom, Jacob; Upton, Joseph

    2013-12-01

    A cohort of patients with overgrowth syndromes has been identified with congenital lipomatous overgrowth, dysregulated fat deposits, and mixed vascular malformations. The acronym CLOVES was given on a heuristic basis to stand for congenital lipomatous overgrowth (CLO), vascular malformation (V), epidermal nevi (E), and scoliosis and spinal deformities (S). These patients have upper limb anomalies with variable phenotypes. Although hand anomalies alone cannot make the diagnosis, the foot, truncal, cutaneous and spinal anomalies are particularly diagnostic. CLOVES syndrome has emerged as a distinct clinical entity diagnosed by clinical and radiographic examinations. The overgrowth pattern is now easily distinguished from other overgrowth syndromes. Copyright © 2013 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.

  2. Compartment syndromes

    Science.gov (United States)

    Mubarak, S. J.; Pedowitz, R. A.; Hargens, A. R.

    1989-01-01

    The compartment syndrome is defined as a condition in which high pressure within a closed fascial space (muscle compartment) reduces capillary blood perfusion below the level necessary for tissue viability'. This condition occurs in acute and chronic (exertional) forms, and may be secondary to a variety of causes. The end-result of an extended period of elevated intramuscular pressure may be the development of irreversible tissue injury and Volkmann's contracture. The goal of treatment of the compartment syndrome is the reduction of intracompartmental pressure thus facilitating reperfusion of ischaemic tissue and this goal may be achieved by decompressive fasciotomy. Controversy exists regarding the critical pressure-time thresholds for surgical decompression and the optimal diagnostic methods of measuring intracompartmental pressures. This paper will update and review some current knowledge regarding the pathophysiology, aetiology, diagnosis, and treatment of the acute compartment syndrome.

  3. Usher Syndrome

    Directory of Open Access Journals (Sweden)

    Ana Fakin

    2012-06-01

    Full Text Available Usher syndrome is an autosomal recessive disease with prevalence of 3–6/100.000 and is the most common syndrome that affects vision and hearing. Three subtypes are distinguished on the basis of different degree of hearing loss. All patients develop retinitis pigmentosa with night vision difficulties and constriction of visual field, and ultimately a decline in visual acuity and color vision. Future holds promise for gene therapy. We present a patient with typical clinical picture of Usher syndrome, who started noticing night vision problems at age 13. At age 25 he was operated on for posterior cortical cataracts. At age 34 he has only 5–10° of visual field remaining with 1.0 visual acuity in both eyes. Fundus autofluorescence imaging revealed a typical hyperautofluorescent ring on the border between normal and affected retina.

  4. Postconcussional Syndrome

    Directory of Open Access Journals (Sweden)

    Necla Keskin

    2013-02-01

    Full Text Available Postconcussional syndrome is characterized by somatic, cognitive and psychiatric (emotional, behavioral symptoms that occurs after mild traumatic brain injury. It has been known that these symptoms recover fully within 3-6 months almost in 90% of patients. Although its etiology is still controversial, biological, psychological and social factors may account for the development and continuation of the symptoms. Diagnosis is based on the subjective complaints. To find out an objective method for definite diagnosis, trials searching for both neuroimaging and specific serum biomarkers stil continue. The treatment of the syndrome is mainly of palliative nature. Information, education, reassurance and multifaceted rehabilitation programmes can be beneficial. There are promising trials reporting the effectiveness of cognitive behavioral therapy in the treatment of postconcussional syndrome. [Archives Medical Review Journal 2013; 22(1.000: 96-109

  5. Cardiorenal syndromes

    Science.gov (United States)

    McCullough, Peter A; Ahmad, Aftab

    2011-01-01

    Cardiorenal syndromes (CRS) have been subclassified as five defined entities which represent clinical circumstances in which both the heart and the kidney are involved in a bidirectional injury and dysfunction via a final common pathway of cell-to-cell death and accelerated apoptosis mediated by oxidative stress. Types 1 and 2 involve acute and chronic cardiovascular disease (CVD) scenarios leading to acute kidney injury or accelerated chronic kidney disease. Types 2 and 3 describe acute and chronic kidney disease leading primarily to heart failure, although it is possible that acute coronary syndromes, stroke, and arrhythmias could be CVD outcomes in these forms of CRS. Finally, CRS type 5 describes a simultaneous insult to both heart and kidneys, such as sepsis, where both organs are injured simultaneously. Both blood and urine biomarkers are reviewed in this paper and offer a considerable opportunity to enhance the understanding of the pathophysiology and known epidemiology of these recently defined syndromes. PMID:21286212

  6. Dressler Syndrome

    Directory of Open Access Journals (Sweden)

    Erkan Ceylan

    2016-02-01

    Full Text Available Dressler Syndrome (DS is a febrile illness secondary to an inflammatory reaction involving the pleura and pericardium. It is more common in patients who have undergone surgery that involves opening the pericardium. However, DS has also been described following myocardial infarction and as an unusual complication after percutaneous procedures such as coronary stent implantation, after implantation of epicardial pacemaker leads and transvenous pacemaker leads, and following blunt trauma, stab wounds, and heart puncture. Pericardial effusions often accompany the syndrome and may develop into early or late postoperative cardiac tamponade and even recurrent cardiac tamponade. The syndrome is also characterized by pericardial or pleuritic pain, pleural effusions, pneumonitis, and abnormal ECG and radiography findings.

  7. Eagle's Syndrome

    Directory of Open Access Journals (Sweden)

    Pinheiro, Thaís Gonçalves

    2014-01-01

    Full Text Available Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is difficult, and it is generally confounded by other manifestations of cervicopharyngeal pain. Objective: To describe a case of Eagle's syndrome. Case Report: A 53-year-old man reported lateral pain in his neck that had been present for 30 years. Computed tomography (CT of the neck showed elongation and ossification of the styloid processes of the temporal bone, which was compatible with Eagle's syndrome. Surgery was performed for bilateral resection of the stylohyoid ligament by using a transoral and endoscopic access route. The patient continued to present pain laterally in the neck, predominantly on his left side. CT was performed again, which showed elongation of the styloid processes. The patient then underwent lateral cervicotomy with resection of the stylohyoid process, which partially resolved his painful condition. Final Comments: Patients with Eagle's syndrome generally have a history of chronic pain. Appropriate knowledge of this disease is necessary for adequate treatment to be provided. The importance of diagnosing this uncommon and often unsuspected disease should be emphasized, given that correct clinical-surgical treatment is frequently delayed. The diagnosis of Eagle's syndrome is clinical and radiographic, and the definitive treatment in cases of difficult-to-control pain is surgical.

  8. Larsen syndrome

    Directory of Open Access Journals (Sweden)

    Mohammed Mahbubul Islam

    2016-08-01

    Full Text Available Larsen syndrome is a rare inherited disorder characterized by congenital dislocation of multiple joints along with other anomalies of heart, face, hands and bones. Larsen syndrome was first described in 1950 by Larsen, Schottstaedt and Bost. In the present report, we describe a 10 year old girl who presented with mid facial hypoplasia with depressed nasal bridge, high arched palate, bilateral talipes equinovarus and high arched feet. On examination, she had short stature (HAZ -3.5 SD with hyperextension of knee joint, fixed flexion of elbow joint. Awareness of this condition and associated complications may help in management and follow up of these patients. 

  9. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ramachandran Sudarshan

    2012-08-01

    Full Text Available Turner syndrome is a genetic disorder that affects mostly females. Affected females have characteristic features such as short stature, premature ovarian failure, and several other features. Oral manifestations of this condition are not much discussed in the literature. But reported literature includes teeth, palate, periodontal and salivary changes. So the aim of this review is to illustrate the general manifestations, and especially the oral manifestations of Turner syndrome and evaluate their possible management. [Archives Medical Review Journal 2012; 21(4.000: 246-252

  10. Waardenburg syndrome

    Directory of Open Access Journals (Sweden)

    Tagra Sunita

    2006-01-01

    Full Text Available Waardenburg syndrome is a rare inherited and genetically heterogenous disorder of neural crest cell development. Four distinct subtypes showing marked interfamilial and intrafamilial variability have been described. We report a girl showing constellation of congenital hearing impairment with 110 dB and 105 dB loss in right and left ear respectively, hypoplastic blue iridis, white forelock, dystopia canthorum and broad nasal root. Other affected relatives of the family, with variable features of the syndrome, have been depicted in the pedigree.

  11. Olmsted syndrome

    Directory of Open Access Journals (Sweden)

    Kumar Pramod

    2008-01-01

    Full Text Available Olmsted syndrome is a rare disorder characterized by the combination of periorificial, keratotic plaques and bilateral palmoplantar keratoderma. New associated features are being reported. Olmsted syndrome is particularly rare in a female patient, and we report such a case in a six year-old Indian girl, who presented with keratoderma of her soles since birth and on her palms since the age of two years along with perioral and perinasal hyperkeratosis. She had sparse, light brown, thin hair. Although the psychomotor development of the child was normal until 18 months of age, the keratoderma plaques had restricted the child′s mobility after that stage.

  12. [Terson syndrome].

    Science.gov (United States)

    Nowosielska, Agnieszka; Czarnecki, Wojciech

    2003-01-01

    The syndrome of intra-vitreous bleeding in association with subarachnoid haemorrhage (SAH) was first describe by French ophthalmologist Albert Terson in 1900. In last 10 years only a few cases were recorded. Early recognition of TS is of high importance, since diminution of visual acuity even to functional blindness, can hamper the rehabilitative process. The treatment methods are various, based on clinical manifestation. The surgical procedure of choice is the pars plana vitrectomy (PPV). The importance of being aware of the syndrome is very crucial, both in order to provide the adequate nursing care and to be able to perform early vitrectomy, to restore the visual function.

  13. Morbihan syndrome

    Directory of Open Access Journals (Sweden)

    Stefano Veraldi

    2013-01-01

    Full Text Available We report a case of severe Morbihan syndrome (chronic erythematous edema of the upper portion of the face in a 60-year-old man. The syndrome was characterized clinically by erythematous edema involving the forehead, glabella, and both eyelids, because of which the patient was not able to open completely his eyes. Furthermore, erythema and telangiectasiae were visible on the nose and cheeks. Laboratory and instrumental examinations were within normal ranges or negative. Histopathological examination showed dermal edema, perivascular and periadnexal lympho-histiocytic infiltrate, and sebaceous gland hyperplasia. Oral isotretinoin was ineffective despite the relatively long duration of the therapy (26 weeks.

  14. Lemierre's syndrome.

    LENUS (Irish Health Repository)

    O'Dwyer, D N

    2012-02-01

    Lemierre\\'s syndrome is a rare disease that results in an oropharyngeal infection, which precipitates an internal jugular vein thrombosis and metastatic infection. Fusobacterium necrophorum is an anaerobic Gram-negative bacillus and has been identified as the causative agent. We describe the case of a young girl whose presentation and diagnosis were confounded by a history of valvular heart disease. Infection of heart valves can produce many of the signs and symptoms associated with Lemierre\\'s syndrome. We describe the diagnosis, investigation and optimal management of this rare disorder.

  15. Diagnosis and treatment difficulties in 18-year-old male patient with hereditary hemochromatosis, chronic hepatitis B, Gilbert syndrome and ulcerative colitis.

    Science.gov (United States)

    Sikorska, Katarzyna; Liberek, Anna; Romanowski, Tomasz; Szlagatys-Sidorkiewicz, Agnieszka; Landowski, Piotr; Bielawski, Krzysztof P

    2011-01-01

    Among possible causes of chronic hepatitis in adolescents most common are infections, autoimmune disorders and metabolic diseases. Thus, diagnostic procedures should be multidirectional. This study reports diagnosis and treatment difficulties in an 18-year-old male patient with hereditary hemochromatosis (HH), ulcerative colitis (UC), chronic hepatitis B (CHB) and Gilbert syndrome. The presented case illustrates problems in diagnostics related to the presence of numerous disease conditions in one patient. It should be taken into consideration that these diseases coexisting in one patient can mutually affect their symptoms creating specific diagnostic difficulties.

  16. Genetics Home Reference: Costello syndrome

    Science.gov (United States)

    ... older adults. The signs and symptoms of Costello syndrome overlap significantly with those of two other genetic conditions, cardiofaciocutaneous syndrome (CFC syndrome) and Noonan syndrome . In affected infants, ...

  17. Marfan syndrome masked by Down syndrome?

    NARCIS (Netherlands)

    Vis, J. C.; van Engelen, K.; Timmermans, J.; Hamel, B. C.; Mulder, B. J. M.

    2009-01-01

    Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome.

  18. Sotos syndrome

    OpenAIRE

    A Juneja; Sultan, A.

    2007-01-01

    Abstract Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported. The diagnosis is usually suspected after birth because of excessive height and occipitofrontal circumference (OFC), advanced bone age, neonatal complications...

  19. Cowden syndrome.

    Science.gov (United States)

    Masmoudi, Abderrahmen; Chermi, Zied Mohamed; Marrekchi, Slaheddine; Raida, Ben Salah; Boudaya, Sonia; Mseddi, Madiha; Jalel, Meziou Taha; Turki, Hamida

    2011-03-26

    Cowden syndrome is a rare genodermatosis charactarized by presence of multiple hamartomas. The aim of the study was to specify the clinical, therapeutic and prognostic aspects of Cowden syndrome. Our study included 4 patients with Cowden syndrome, 2 males and 2 females between 14 and 46 years old. Clinical examination of the skin revealed facials papules (4 cases), acral keratosis (1 case), translucent keratotic papules (2 cases). Oral examination revealed papules (4 cases), papillomatosis (4 cases), gingival hypertrophy (4 cases) and scrotal tongue (2 cases). Investigations revealed thyroid lesions (2 cases), fibrocystic disease and lipoma of the breast in 1 case, "glycogenic acanthosis" (1 case), macrocephaly (2 cases), dysmorphic face (1 case) and lichen nitidus (1 case). Oral etretinate and acitretine were temporary efficient in 2 patients. Topical treatment with tretinoin lotion resulted in some improvement in cutaneous, but not mucosal lesions in one patient. No cancer was revealed. The pathognomonic mucocutaneous lesions were found in all patients. However, no degenerative lesions have been revealed. A new association of Cowden syndrome with lichen nitidus was found. Treatment with oral retinoids was efficient on cutaneous lesions.

  20. kartagener's syndrome

    African Journals Online (AJOL)

    GB

    upper and lower respiratory tract infections such as sinusitis, otitis media and bronchiectasis (6). Males are generally infertile because of immotile sperms (8). In rare cases, no structural cilliary abnormalities are detectable even though cilliary function is abnormal and the clinical syndrome is typical (9). Some males have ...

  1. Hunter's Syndrome

    African Journals Online (AJOL)

    CASE DETAILS: An eight year old patient with Hunter's syndrome identified five years after disease onset with severe cardiovascular complications exemplifies the challenges faced in resource-limited countries towards making diagnosis and treatment of rare conditions. Elevated urinary glycosaminoglycans levels or a ...

  2. Ortner syndrome

    African Journals Online (AJOL)

    2009-02-02

    Feb 2, 2009 ... Division of Otolaryngology, University of Cape Town. L J Zühlke, MB ChB, DCH, FCPaed, Cert in Paed Card. Department of Paediatric Cardiology, University of Cape Town and Red Cross Children's Hospital, Cape Town. 170 SAJCH DECEMBER 2008 VOL. 2 NO. 4. CASE REPORT. Ortner syndrome, or ...

  3. Kostmann Syndrome

    African Journals Online (AJOL)

    However, hematopoietic stem cell transplantation has shown promise in the treatment of non-responders. About 60-80% of. SCN cases are associated with constitutive mutations in one copy of the gene encoding neutrophil elastase ELA2. Myelodysplastic syndrome and acute myeloid leukemia. (MDS/AML) have been ...

  4. Bloom syndrome.

    Science.gov (United States)

    Arora, Harleen; Chacon, Anna H; Choudhary, Sonal; McLeod, Michael P; Meshkov, Lauren; Nouri, Keyvan; Izakovic, Jan

    2014-07-01

    Bloom Syndrome (BS, MIM #210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the DNA repair enzyme RecQL3 helicase. Without proper DNA repair mechanisms, abnormal DNA exchange takes place between sister chromatids and results in genetic instability that may lead to cancer, especially lymphoma and acute myelogenous leukemia, lower and upper gastrointestinal tract neoplasias, cutaneous tumors, and neoplasias in the genitalia and urinary tract. BS patients are usually of Ashkenazi Jewish descent and exhibit narrow facial features, elongated limbs, and several dermatologic complications including photosensitivity, poikiloderma, and telangiectatic erythema. The most concerning manifestation of BS is multiple malignancies, which require frequent screenings and strict vigilance by the physician. Therefore, distinguishing between BS and other dermatologic syndromes of similar presentation such as Rothmund-Thomson Syndrome, Erythropoietic Protoporphyria, and Cockayne Syndrome is paramount to disease management and to prolonging life. BS can be diagnosed through a variety of DNA sequencing methods, and genetic testing is available for high-risk populations. This review consolidates several sources on BS sequelae and aims to suggest the importance of differentiating BS from other dermatologic conditions. This paper also elucidates the recently discovered BRAFT and FANCM protein complexes that link BS and Fanconi anemia. © 2014 The International Society of Dermatology.

  5. Gorlin syndrome

    African Journals Online (AJOL)

    these patients are hypersensitive to radiation and prone to develop multiple malignancies. Patients can ... maxillofacial surgeons, radiation oncologists and dermatologists, and it will be to the benefit of the patient with this syndrome for these specialists ... grandmother had been diagnosed with breast cancer, and there was.

  6. Hunter syndrome

    African Journals Online (AJOL)

    dermatan et sulfate d'heparin. L'accumulation de l'intra et extracellulaire de ce matieres provoquent un organe multisystémique anormal. Nous présentons un patient atteint du syndrome de chasseur impliquant 1a peau systeme cardiovasculaire, des yeux et systeme musculosquelettique. Nous avons aussi écrit le compte ...

  7. Pendred Syndrome

    Science.gov (United States)

    ... an audiologist , an endocrinologist , a clinical geneticist , a genetic counselor , an otolaryngologist , and a speech-language pathologist . To reduce the likelihood of hearing loss progression, children and adults with Pendred syndrome should avoid contact sports that might lead to head injury; wear head ...

  8. Goldenhar syndrome

    African Journals Online (AJOL)

    operational on the derivatives of the first and second bran- chial arches and clefts before the end of the organogenetic period (7'h or 8'h week of embryonic life)? ..... Marshman WE, Schalit G, Jones RB, Lee JP, Mathews TD and McCabe S: Congenital anomalies in patients with Duane retraction syndrome and their relatives.

  9. Hunter's Syndrome

    African Journals Online (AJOL)

    hanumantp

    the two enzymes required to break down the sugar chains into proteins and ... Clinical presentation of mucopolysaccharidosis type II (Hunter's syndrome). He was born of ... He is the only child in a separated family and is currently staying with ...

  10. Ortner syndrome

    African Journals Online (AJOL)

    2009-02-02

    Feb 2, 2009 ... A 3-month-old baby girl was brought to the Ear, Nose and ... had died of cardiac failure at a very young age. ... on adduction, allowing for her good voice. Further follow- up and a cardiac ultrasound scan showed improved cardiac function. Discussion. Ortner first described this syndrome in 1897 after seeing ...

  11. Marfan Syndrome

    Science.gov (United States)

    ... lives. continue How Do Kids Get It? Marfan syndrome affects 1 in every 5,000 people all over the world. That makes it pretty rare. It's a genetic (say: juh-NEH-tik) disease, which means it is caused by a problem with a ...

  12. Postthrombotic Syndrome

    Science.gov (United States)

    ... ulcer. 2,12 Additional Resources Here are some Internet links that will give you more information about ... CrossRef PubMed ↵ Kahn SR, Ginsberg JS. Relationship between deep venous thrombosis and the postthrombotic syndrome. Arch Intern ...

  13. Hunter's Syndrome

    African Journals Online (AJOL)

    GB

    disorder due to deficiency of the lysosomal enzyme iduronate-2-sulfatase with patients rarely living till adulthood. Failure to identify ... case report. CASE DETAILS: An eight year old patient with Hunter's syndrome identified five years after disease onset with severe .... mitral valve prolapse with severe regurgitation, moderate ...

  14. Dressler's Syndrome

    Science.gov (United States)

    ... Medicine: Clinical Essentials. 2nd ed. Philadelphia, Pa.: Saunders Elsevier; 2013. http://www.clinicalkey.com. Accessed May 27, 2015. Imazio M, et al. Postpericardiotomy syndrome: A proposal for diagnostic criteria. Journal of Cardiovascular Medicine. 2013:14:351. Alraies MC, ...

  15. Eisenmengers syndrom

    DEFF Research Database (Denmark)

    Jensen, Annette Schophuus; Iversen, Kasper; Vejlstrup, Niels G

    2009-01-01

    -to-left shunt and cyanosis. Patients with Eisenmenger syndrome suffer a high risk of complications in connection with acute medical conditions, extra-cardiac surgery and pregnancy. This article describes the precautions that should be taken to reduce morbidity and mortality in these patients. Udgivelsesdato...

  16. Noonan syndrome.

    NARCIS (Netherlands)

    Burgt, I. van der

    2007-01-01

    Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set

  17. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    Debi Basanti

    2005-01-01

    Full Text Available Proteus syndrome is a variable and complex disorder characterized by multifocal overgrowths affecting any tissue or structure of the body. We present a girl aged 3 years and 8 months with an epidermal nevus, port-wine stain, macrodactyly with gigantism of the feet, lymphohemagiomas and multiple lipomas.

  18. Nodding Syndrome

    Centers for Disease Control (CDC) Podcasts

    2013-12-19

    Dr. Scott Dowell, a CDC director, discusses the rare illness, nodding syndrome, in children in Africa.  Created: 12/19/2013 by National Center for Emerging and Zoonotic Infectious Diseases (NCEZID).   Date Released: 1/27/2014.

  19. Kosenow syndrome

    African Journals Online (AJOL)

    spina bifida was also noted. MRI was performed and showed absence of osseous or cartilaginous tissue in the normal location of the ilium. Instead there was a soft-tissue structure, hypo-intense in all sequences, suggestive of fibrous tissue. Imaging features of a rare case of scapuloiliac dysostosis (Kosenow syndrome) in ...

  20. Rett Syndrome.

    Science.gov (United States)

    Culbert, Linda A.

    This pamphlet reviews the historical process involved in initially recognizing Rett Syndrome as a specific disorder in girls. Its etiology is unknown, but studies have considered factors as hyperammonemia, a two-step mutation, a fragile X chromosome, metabolic disorder, environmental causation, dopamine deficiency, and an inactive X chromosome.…

  1. Waardenburg syndrome

    Science.gov (United States)

    Once hearing problems are corrected, most people with this syndrome should be able to lead a normal life. Those with ... require part of large bowel to be removed Hearing loss Self-esteem problems, or other problems related to appearance Slight decreased ...

  2. Klinefelter Syndrome

    Directory of Open Access Journals (Sweden)

    Hande Peynirci

    2013-09-01

    Full Text Available Klinefelter syndrome is the most common sex chromosome disorder in males. Variation in clinical presentation and insufficient awareness of this syndrome among clinicians lead to fifty percent of patients remain undetected. Typical clinical features of Klinefelter syndrome are various degrees of hypogonadal symptoms, atrophic testes and gynaecomastia. However, these typical clinical symptoms may not be present in all patients. Even if serum testosterone levels are not markedly low, elevated serum follicle-stimulating hormone is a considerable laboratory finding. Definitive diagnosis is made by karyotype analysis of peripheral blood lymphocytes. It must be kept in mind that this analysis may be normal in rare conditions. Early recognition of patients during puberty and handling them as soon as possible is important. Testosterone replacement therapy results in increased muscle mass, bone mineral density and libido. The patient’s mood and self-esteem improve significantly. In general, patients with Klinefelter syndrome are accepted as infertile, however, assisted reproductive techniques may provide fertilization. Turk Jem 2013; 17: 63-7

  3. Compartment syndromes

    Directory of Open Access Journals (Sweden)

    Aly Saber

    2014-01-01

    Full Text Available Body compartments bound by fascia and limited by bony backgrounds are found in the extremities, buttocks, abdomen and thoracic cavity; conditions that cause intracompartmental swelling and hypertension can lead to ischemia and limb loss. Although compartment syndromes are described in all body regions from head to toe, the etiology, diagnosis, treatment, and prevention are best characterized for three key body regions: the first is extremity, the second is abdominal, and the third is thoracic compartment syndromes. Thoracic compartment syndrome usually occurs as a result of pathological accumulation of air, fluid or blood in the mediastinum and has traditionally been described in trauma. As the intracranial contents are confined within a rigid bony cage, any increase in volume within this compartment as a result of brain oedema or an expanding traumatic intracranial haematoma, leads to a reciprocal decrease in the volume of cerebrospinal fluid and intracranial venous blood volume. Limb compartment syndromes may present either in acute or chronic clinical forms. Intra-abdominal pressure can be measured by direct or indirect methods. While the direct methods are quite accurate, they are impractical and not feasible for routine practice. Indirect measurement is done through inferior vena cava, gastric, rectal and urinary bladder. Indirect measurement through urinary bladder is the simplest and is considered the method of choice for intra-abdominal pressure measurement. The management of patients with intra-abdominal hypertension is based on four important principles: the first is related to the specific procedures aiming at lowering intra-abdominal pressure and the consequences of intra-abdominal hypertension and abdominal compartment syndrome; the second is for general support and medical management of the critically ill patient; while the third is surgical decompression and the fourth is optimization after surgical decompression.

  4. Pendred syndrome.

    Science.gov (United States)

    Wémeau, Jean-Louis; Kopp, Peter

    2017-03-01

    Pendred syndrome is an autosomal recessive disorder that is classically defined by the combination of sensorineural deafness/hearing impairment, goiter, and an abnormal organification of iodide with or without hypothyroidism. The hallmark of the syndrome is the impaired hearing, which is associated with inner ear malformations such as an enlarged vestibular aqueduct (EVA). The thyroid phenotype is variable and may be modified by the nutritional iodine intake. Pendred syndrome is caused by biallelic mutations in the SLC26A4/PDS gene, which encodes the multifunctional anion exchanger pendrin. Pendrin has affinity for chloride, iodide, and bicarbonate, among other anions. In the inner ear, pendrin functions as a chloride/bicarbonate exchanger that is essential for maintaining the composition and the potential of the endolymph. In the thyroid, pendrin is expressed at the apical membrane of thyroid cells facing the follicular lumen. Functional studies have demonstrated that pendrin can mediate iodide efflux in heterologous cells. This, together with the thyroid phenotype observed in humans (goiter, impaired iodine organification) suggests that pendrin could be involved in iodide efflux into the lumen, one of the steps required for thyroid hormone synthesis. Iodide efflux can, however, also occur in the absence of pendrin suggesting that other exchangers or channels are involved. It has been suggested that Anoctamin 1 (ANO1/TMEM16A), a calcium-activated anion channel, which is also expressed at the apical membrane of thyrocytes, could participate in mediating apical efflux. In the kidney, pendrin is involved in bicarbonate secretion and chloride reabsorption. While there is no renal phenotype under basal conditions, severe metabolic alkalosis has been reported in Pendred syndrome patients exposed to an increased alkali load. This review provides an overview on the clinical spectrum of Pendred syndrome, the functional data on pendrin with a focus on its potential role in

  5. ADHD & Down Syndrome

    Science.gov (United States)

    ... Home » Resources » Health Care » Associated Conditions » ADHD & Down Syndrome ADHD & Down Syndrome Attention deficit hyperactivity disorder, or ADHD, is ... Helpline » Follow us Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ...

  6. The Source for Syndromes.

    Science.gov (United States)

    Richard, Gail J.; Hoge, Debra Reichert

    Designed for practicing speech-language pathologists, this book discusses different syndrome disabilities, pertinent speech-language characteristics, and goals and strategies to begin intervention efforts at a preschool level. Chapters address: (1) Angelman syndrome; (2) Asperger syndrome; (3) Down syndrome; (4) fetal alcohol syndrome; (5) fetal…

  7. Chronic pain in hypermobility syndrome and Ehlers–Danlos syndrome (hypermobility type: it is a challenge

    Directory of Open Access Journals (Sweden)

    Scheper MC

    2015-08-01

    Full Text Available Mark C Scheper,1,2 Janneke E de Vries,1–3 Jeanine Verbunt,3,4 Raoul HH Engelbert1,2 1School of Physiotherapy, Amsterdam University of Applied Sciences, Amsterdam, 2Department of Rehabilitation, Academic Medical Center, University of Amsterdam, Amsterdam, 3Department of Rehabilitation Medicine, CAPHRI School for Public Health and Primary Care, Maastricht University, Maastricht; 4Adelante, Center of expertise in Rehabilitation and Audiology, Hoensbroek, the Netherlands Abstract: Generalized joint hypermobility (GJH is highly prevalent among patients diagnosed with chronic pain. When GJH is accompanied by pain in ≥4 joints over a period ≥3 months in the absence of other conditions that cause chronic pain, the hypermobility syndrome (HMS may be diagnosed. In addition, GJH is also a clinical sign that is frequently present in hereditary diseases of the connective tissue, such as the Marfan syndrome, osteogenesis imperfecta, and the Ehlers–Danlos syndrome. However, within the Ehlers–Danlos spectrum, a similar subcategory of patients having similar clinical features as HMS but lacking a specific genetic profile was identified: Ehlers–Danlos syndrome hypermobility type (EDS-HT. Researchers and clinicians have struggled for decades with the highly diverse clinical presentation within the HMS and EDS-HT phenotypes (Challenge 1 and the lack of understanding of the pathological mechanisms that underlie the development of pain and its persistence (Challenge 2. In addition, within the HMS/EDS-HT phenotype, there is a high prevalence of psychosocial factors, which again presents a difficult issue that needs to be addressed (Challenge 3. Despite recent scientific advances, many obstacles for clinical care and research still remain. To gain further insight into the phenotype of HMS/EDS-HT and its mechanisms, clearer descriptions of these populations should be made available. Future research and clinical care should revise and create consensus on the

  8. Dravet syndrome

    Directory of Open Access Journals (Sweden)

    Incorpora Gemma

    2009-09-01

    Full Text Available Abstract "Dravet syndrome" (DS previously named severe myoclonic epilepsy of infancy (SMEI, or epilepsy with polymorphic seizures, is a rare disorder characterized by an early, severe, generalized, epileptic encephalopathy. DS is characterized by febrile and afebrile seizures beginning in the 1st year of life followed by different types of seizures (either focal or generalized, which are typically resistant to antiepileptic drugs. A developmental delay from the 2nd to 3rd year of life becomes evident, together with motor disturbances and personality disorders. Beside the classic syndrome, there are milder cases which have been called severe myoclonic epilepsy borderline (SMEB. DS is caused by a mutation in the neuronal sodium channel gene, SCN1A , that is also mutated in generalized epilepsy with FS+ (GEFS+.

  9. Paraneoplastic syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Weller, R.E.

    1994-03-01

    Paraneoplastic syndromes (PNS) comprise a diverse group of disorders that are associated with cancer but unrelated to the size, location, metastases, or physiologic activities of the mature tissue of origin. They are remote effects of tumors that may appear as signs, symptoms, or syndromes which can mimic other disease conditions encountered in veterinary medicine. Recognition of PNS is valuable for several reasons: the observed abnormalities may represent tumor cell markers and facilitate early diagnosis of the tumor; they may allow assessment of premalignant states; they may aid in the search metastases; they may help quantify and monitor response to therapy; and, they may provide insight into the study of malignant transformation and oncogene expression. This review will concentrate on the pathophysiology, diagnosis, and treatment of some of the common PNS encountered in veterinary medicine.

  10. Barth Syndrome

    DEFF Research Database (Denmark)

    Saric, Ana; Andreau, Karine; Armand, Anne-Sophie

    2016-01-01

    Mutations in the gene encoding the enzyme tafazzin, TAZ, cause Barth syndrome (BTHS). Individuals with this X-linked multisystem disorder present cardiomyopathy (CM) (often dilated), skeletal muscle weakness, neutropenia, growth retardation, and 3-methylglutaconic aciduria. Biopsies of the heart......, liver and skeletal muscle of patients have revealed mitochondrial malformations and dysfunctions. It is the purpose of this review to summarize recent results of studies on various animal or cell models of Barth syndrome, which have characterized biochemically the strong cellular defects associated...... strong insights into the link between mitochondrial dysfunction and the production of reactive oxygen species (ROS). An important tool has been the generation of BTHS-specific induced pluripotent stem cells (iPSCs) from BTHS patients. In a complementary approach, disease-specific mutations have been...

  11. Apert syndrome

    Directory of Open Access Journals (Sweden)

    Premalatha

    2010-01-01

    Full Text Available Apert syndrome (acrocephalosyndactyly is a rare developmental malformation characterized by craniosynostosis, mid-face hypoplasia, symmetrical syndactyly of hands and feet. The prodromal characteristics for the typical cranio-facial appearance are early craniosynostosis of the coronal suture, cranial base and agenesis of the sagittal suture. The purpose of this paper is to report a case of Apert syndrome with emphasis on craniofacial and oral features in an eighteen-month-old male child. The patient presented with several craniofacial deformities, including brachycephaly, midface hypoplasia, flat face, hypertelorism, ocular proptosis, downslanting palpebral fissures. Syndactylies with osseous fusion of the hands and feet were also observed. Intraoral findings included delayed eruption of teeth, high arched palate with pseudo cleft in the posterior one third.

  12. Griscelli syndrome

    Directory of Open Access Journals (Sweden)

    Kumar T

    2006-01-01

    Full Text Available Partial albinism with immunodeficiency is a rare and fatal immunologic disorder characterized by pigmentary dilution and variable cellular immunodeficiency. It was initially described in 1978. Primary abnormalities included silvery grayish sheen to the hair, large pigment agglomerations in hair shafts and an abundance of mature melanosomes in melanocytes, with reduced pigmentation of adjacent keratinocytes. We describe a child with Griscelli syndrome who presented with hepatitis, pancytopenia and silvery hair. The diagnosis was confirmed by microscopic skin and hair examination.

  13. [Fibromyalgia syndrome].

    Science.gov (United States)

    Naranjo Hernández, A; Rodríguez Lozano, C; Ojeda Bruno, S

    1992-02-01

    The Fibromialgia Syndrome (FS) is a common clinical entity which may produce symtoms and signs related to multiple fields of Medicine. Typical clinical characteristics of FS include extensive pain, presence of sensitive points during exploration, morning stiffness, asthenia and non-refresing sleep. Frequently, associated rheumatologic diseases are observed, as rheumatoid arthritis, osteoarthrosis and vertebral disorders. In FS, complementary tests are usually normal. The most widely accepted hypothesis suggests that this is a disorder affecting modulation of pain sensitivity.

  14. Asperger Syndrome

    OpenAIRE

    Friedlander, Robin

    2002-01-01

    Abstract Asperger syndrome (AS) is a chronic neurodevelopmental disorder of social interaction, communication, and a restricted range of behaviors or interests. Although not generally associated with intellectual disability, the severe social disability and, in many cases, associated mental health and other medical problems, result in disability throughout life. The diagnosis is often delayed, sometimes into adulthood, which is unfortunate because there are now a range...

  15. [Cockayne syndrome].

    Science.gov (United States)

    Wang, Xue-Mei; Cui, Yun-Pu; Liu, Yun-Feng; Wei, Ling; Liu, Hui; Wang, Xin-Li; Zheng, Zhuo-Zhao

    2011-02-01

    Cockayne syndrome is a rare autosomal recessive disease. This paper reports a case of Cockayne syndrome confirmed by gene analysis. The baby (male, 7 years old) was referred to Peking University Third Hospital with recurrent desquamation, pigmentation and growth and development failure for 6 years, and recurrent dental caries and tooth loss for 2 years. Physical examination showed very low body weight, body length and head circumference, yellow hair, a lot of fawn spots on the face, skin dry and less elastic, and subcutaneous lipopenia. He had an unusual appearance with sunken eyes, sharp nose, sharp mandible, big auricle and dental caries and tooth loss. Crura spasticity and ataxia with excessive tendon reflexion, and ankle movement limitation while bending back were observed. He had slured speech. The level of serum insulin like growth factor I was low, and the results of blood and urinary amino acid analysis suggested malnutrition. The results of blood growth hormone, thyroxin, parathyroxin, liver function, renal function, lipoprotein profile and blood glucose and electrolytes were all within normal limit. An electronic hearing examination showed moderate neural hearing loss. The sonogram of eyes revealed small eye axis and vitreous body opacity of right side. MRI of brain revealed bilateral calcification of basal ganglia and generalized cerebral and cerebellar atrophy, and brainstem and callus were also atrophic. Genetic analysis confirmed with CSA gene mutation. So the boy was definitely diagnosed with Cockayne syndrome. He was discharged because of no effective treatment.

  16. SUSAC SYNDROME.

    Science.gov (United States)

    Patel, Kevin H; Haug, Sara J; Imes, Richard K; Cunningham, Emmett T; McDonald, H Richard

    2015-01-01

    To describe an atypical presentation of Susac syndrome. Observational case report. A 44-year-old man with no significant medical history presented with inferonasal visual field loss in his left eye of several months of duration. He was found to have bilateral migratory arteritis with focal areas of arteriolar occlusion in both eyes and peripheral ischemia superotemporally in his left eye. An extensive hematologic workup was negative for autoimmune disease or coagulopathy. Magnetic resonance imaging with contrast of his brain revealed a hyperintense lesion in the splenium of the corpus callosum. Auditory testing was significant for nonspecific high-frequency hearing loss in the right ear. Given the full clinical picture, a diagnosis of Susac syndrome was made. Susac syndrome is a multisystemic, immune-mediated occlusive endotheliopathy characterized by the clinical triad of encephalopathy, branch retinal artery occlusions, and hearing loss. However, patients may present with varying degrees of this triad; thus, there should be a high index of suspicion in patients presenting with multiple artery occlusions or multifocal arteritis. (C) 2015 by Ophthalmic Communications Society, Inc.

  17. CREST Syndrome

    Directory of Open Access Journals (Sweden)

    Tuğçe Köksüz

    2014-06-01

    Full Text Available We report a case of CREST syndrome (calsinosis cutis, Raynaud’s phenomenon, oesophageal dysmotility, sclerodactyly and telangiectasia with all of the five major symptoms. A 46-year-old woman was admitted to our clinic with the complaint of erythema, rigidity and pain on the plantar surface of the feet. She had had Raynaud’s phenomenon for 20 years and oesophageal reflux for five years. Her face had become masklike and there was prominent telangiectasies on her face and hands. Sclerosis were confined to the fingers (sclerodactyly. Direct X-ray graphy demonstrated calcinosis cutis on the left hand and suprapatellar region. She was treated with nifedipine 30 mg/day, acetylsalicylic acid 100 mg/day for Raynaud’s phenomenon and famotidine 40 mg/day, metoclopramide HCL 30 mg/day for oesophageal dysmotility. Her complaints were partially relieved after the treatment. This case had all of the five major symptoms of CREST syndrome, and we aimed to emphasize the major symptoms and complications of CREST syndrome. (Turk J Dermatol 2012; 6: 48-50

  18. CREST Syndrome

    Directory of Open Access Journals (Sweden)

    Tuğçe Köksüz

    2012-06-01

    Full Text Available We report a case of CREST syndrome (calsinosis cutis, Raynaud’s phenomenon, oesophageal dysmotility, sclerodactyly and telangiectasia with all of the five major symptoms. A 46-year-old woman was admitted to our clinic with the complaint of erythema, rigidity and pain on the plantar surface of the feet. She had had Raynaud’s phenomenon for 20 years and oesophageal reflux for five years. Her face had become masklike and there was prominent telangiectasies on her face and hands. Sclerosis were confined to the fingers (sclerodactyly. Direct X-ray graphy demonstrated calcinosis cutis on the left hand and suprapatellar region. She was treated with nifedipine 30 mg/day, acetylsalicylic acid 100 mg/day for Raynaud’s phenomenon and famotidine 40 mg/day, metoclopramide HCL 30 mg/day for oesophageal dysmotility. Her complaints were partially relieved after the treatment. This case had all of the five major symptoms of CREST syndrome, and we aimed to emphasize the major symptoms and complications of CREST syndrome.

  19. Crush syndrome

    Directory of Open Access Journals (Sweden)

    Emily Lovallo

    2012-09-01

    Full Text Available The first detailed cases of crush syndrome were described in 1941 in London after victims trapped beneath bombed buildings presented with swollen limbs, hypovolemic shock, dark urine, renal failure, and ultimately perished. The majority of the data and studies on this topic still draw from large databases of earthquake victims. However, in Africa, a continent with little seismic activity, the majority of crush syndrome cases are instead victims of severe beatings rather than earthquake casualties, and clinical suspicion by emergency personnel must be high in this patient group presenting with oliguria or pigmenturia. Damaged skeletal muscle fibres and cell membranes lead to an inflammatory cascade resulting in fluid sequestration in the injured extremity, hypotension, hyperkalemia and hypocalcemia and their complications, and renal injury from multiple sources. Elevations in the serum creatinine, creatine kinase (CK, and potassium levels are frequent findings in these patients, and can help guide critical steps in management. Fluid resuscitation should begin prior to extrication of trapped victims or as early as possible, as this basic intervention has been shown to in large part prevent progression of renal injury to requiring haemodialysis. Alkalinization of the urine and use of mannitol for forced diuresis are recommended therapies under specific circumstances and are supported by studies done in animal models, but have not been shown to change clinical outcomes in human crush victims. In the past 70 years the crush syndrome and its management have been studied more thoroughly, however clinical practice guidelines continue to evolve.

  20. Lambert-Eaton syndrome

    Science.gov (United States)

    Myasthenic syndrome; Eaton-Lambert syndrome; Lambert-Eaton myasthenic syndrome; LEMS; LES ... get up from a sitting or lying position Problems talking Problems chewing or swallowing, which may include ...