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Sample records for progeria syndrome hh

  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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    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.

  3. Immortalization of Werner syndrome and progeria fibroblasts

    International Nuclear Information System (INIS)

    Saito, H.; Moses, R.E.

    1991-01-01

    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

  4. Genetics Home Reference: Hutchinson-Gilford progeria syndrome

    Science.gov (United States)

    ... mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome. Proc Natl Acad ... Health & Human Services National Institutes of Health National Library of Medicine Lister Hill National Center for Biomedical ...

  5. 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.

  6. 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

  7. 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.

  8. 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.)

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

    International Nuclear Information System (INIS)

    Cleveland, Robert H.; Gordon, Leslie B.; Kleinman, Monica E.; Miller, David T.; Gordon, Catherine M.; Snyder, Brian D.; Nazarian, Ara; Giobbie-Hurder, Anita; Neuberg, Donna; Kieran, Mark W.

    2012-01-01

    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.)

  10. Leg ulcer in Werner syndrome (adult progeria): a case report.

    Science.gov (United States)

    Fumo, Giuseppe; Pau, Monica; Patta, Federico; Aste, Nicola; Atzori, Laura

    2013-03-15

    Werner syndrome (WS; MIM#277700) or adult progeria, is a rare disease, associated with mutations of a single gene (RECQL2 or WRN), located on chromosome 8 (8p12). It codes a DNA-helicase, whose defects cause genomic instability. The highest incidences are reported in Japan and Sardinia (Italy). On this major island of the Mediterranean Basin, the WS cases have been observed in the northern areas. The authors describe the apparently first case reported in southern Sardinia, a 51-year-old woman, who was born in and resides in the province of Cagliari. She presented with a 9-year history of an intractable leg ulcer and other characteristic symptoms, including "bird-like" face, high-pitched voice, premature greying, short stature, abdominal obesity in contrast with thin body type, scleroderma-like legs, decreased muscle mass, diabetes, atherosclerosis, and premature menopause. A specialized genetic Institute of Research (IRCCS-IDI, Rome) confirmed the clinical diagnosis. There is no cure or specific treatment and patients must be periodically screened for an increased risk of cardiovascular and cerebrovascular disease and malignancies. Among the many findings, leg ulcers significantly affect the patient's quality of life. This problem may send the patient to the dermatologist, who finally suspects the diagnosis. Poor response to medical treatment may require aggressive repeated surgery, with poor or temporary results.

  11. 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.

  12. 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.

  13. Importance of molecular cell biology investigations in human medicine in the story of the Hutchinson-Gilford progeria syndrome

    Czech Academy of Sciences Publication Activity Database

    Raška, Ivan

    2010-01-01

    Roč. 3, č. 3 (2010), s. 89-93 ISSN 1337-6853 Grant - others:GA MŠk(CZ) LC535 Program:LC Institutional research plan: CEZ:AV0Z50110509 Keywords : laminopathies * Hutchinson-Gilford progeria syndrome * progerin Subject RIV: EA - Cell Biology

  14. Recapitulation of premature ageing with iPSCs from Hutchinson-Gilford progeria syndrome.

    Science.gov (United States)

    Liu, Guang-Hui; Barkho, Basam Z; Ruiz, Sergio; Diep, Dinh; Qu, Jing; Yang, Sheng-Lian; Panopoulos, Athanasia D; Suzuki, Keiichiro; Kurian, Leo; Walsh, Christopher; Thompson, James; Boue, Stephanie; Fung, Ho Lim; Sancho-Martinez, Ignacio; Zhang, Kun; Yates, John; Izpisua Belmonte, Juan Carlos

    2011-04-14

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare and fatal human premature ageing disease, characterized by premature arteriosclerosis and degeneration of vascular smooth muscle cells (SMCs). HGPS is caused by a single point mutation in the lamin A (LMNA) gene, resulting in the generation of progerin, a truncated splicing mutant of lamin A. Accumulation of progerin leads to various ageing-associated nuclear defects including disorganization of nuclear lamina and loss of heterochromatin. Here we report the generation of induced pluripotent stem cells (iPSCs) from fibroblasts obtained from patients with HGPS. HGPS-iPSCs show absence of progerin, and more importantly, lack the nuclear envelope and epigenetic alterations normally associated with premature ageing. Upon differentiation of HGPS-iPSCs, progerin and its ageing-associated phenotypic consequences are restored. Specifically, directed differentiation of HGPS-iPSCs to SMCs leads to the appearance of premature senescence phenotypes associated with vascular ageing. Additionally, our studies identify DNA-dependent protein kinase catalytic subunit (DNAPKcs, also known as PRKDC) as a downstream target of progerin. The absence of nuclear DNAPK holoenzyme correlates with premature as well as physiological ageing. Because progerin also accumulates during physiological ageing, our results provide an in vitro iPSC-based model to study the pathogenesis of human premature and physiological vascular ageing.

  15. Progeria 101/FAQ

    Science.gov (United States)

    ... Progeria, but also may shed light on the phenomenon of aging and cardiovascular disease.” v “Recurrent de ... Statistics Is Progeria passed down from parent to child? HGPS is not usually passed down in families. ...

  16. Progeria in siblings: A rare case report

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    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.

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

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    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.

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

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    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.

  19. 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 ... Inc. All rights reserved. Page 2 of 5 Physical and Occupational Therapy in Progeria Hutchinson-Gilford Progeria ...

  20. 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)

  1. Signaling pathway activation drift during aging: Hutchinson-Gilford Progeria Syndrome fibroblasts are comparable to normal middle-age and old-age cells.

    Science.gov (United States)

    Aliper, Alexander M; Csoka, Antonei Benjamin; Buzdin, Anton; Jetka, Tomasz; Roumiantsev, Sergey; Moskalev, Alexy; Zhavoronkov, Alex

    2015-01-01

    For the past several decades, research in understanding the molecular basis of human aging has progressed significantly with the analysis of premature aging syndromes. Progerin, an altered form of lamin A, has been identified as the cause of premature aging in Hutchinson-Gilford Progeria Syndrome (HGPS), and may be a contributing causative factor in normal aging. However, the question of whether HGPS actually recapitulates the normal aging process at the cellular and organismal level, or simply mimics the aging phenotype is widely debated. In the present study we analyzed publicly available microarray datasets for fibroblasts undergoing cellular aging in culture, as well as fibroblasts derived from young, middle-age, and old-age individuals, and patients with HGPS. Using GeroScope pathway analysis and drug discovery platform we analyzed the activation states of 65 major cellular signaling pathways. Our analysis reveals that signaling pathway activation states in cells derived from chronologically young patients with HGPS strongly resemble cells taken from normal middle-aged and old individuals. This clearly indicates that HGPS may truly represent accelerated aging, rather than being just a simulacrum. Our data also points to potential pathways that could be targeted to develop drugs and drug combinations for both HGPS and normal aging.

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

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    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.

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

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    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.

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

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    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

  5. Abnormal nuclear morphology is independent of longevity in a zmpste24-deficient fish model of Hutchinson-Gilford progeria syndrome (HGPS).

    Science.gov (United States)

    Tonoyama, Yasuhiro; Shinya, Minori; Toyoda, Atsushi; Kitano, Takeshi; Oga, Atsunori; Nishimaki, Toshiyuki; Katsumura, Takafumi; Oota, Hiroki; Wan, Miles T; Yip, Bill W P; Helen, Mok O L; Chisada, Shinichi; Deguchi, Tomonori; Au, Doris W T; Naruse, Kiyoshi; Kamei, Yasuhiro; Taniguchi, Yoshihito

    2018-07-01

    Lamin is an intermediate protein underlying the nuclear envelope and it plays a key role in maintaining the integrity of the nucleus. A defect in the processing of its precursor by a metalloprotease, ZMPSTE24, results in the accumulation of farnesylated prelamin in the nucleus and causes various diseases, including Hutchinson-Gilford progeria syndrome (HGPS). However, the role of lamin processing is unclear in fish species. Here, we generated zmpste24-deficient medaka and evaluated their phenotype. Unlike humans and mice, homozygous mutants did not show growth defects or lifespan shortening, despite lamin precursor accumulation. Gonadosomatic indices, blood glucose levels, and regenerative capacity of fins were similar in 1-year-old mutants and their wild-type (WT) siblings. Histological examination showed that the muscles, subcutaneous fat tissues, and gonads were normal in the mutants at the age of 1 year. However, the mutants showed hypersensitivity to X-ray irradiation, although p53target genes, p21 and mdm2, were induced 6 h after irradiation. Immunostaining of primary cultured cells from caudal fins and visualization of nuclei using H2B-GFP fusion proteins revealed an abnormal nuclear shape in the mutants both in vitro and in vivo. The telomere lengths were significantly shorter in the mutants compared to WT. Taken together, these results suggest that zmpste24-deficient medaka phenocopied HGPS only partially and that abnormal nuclear morphology and lifespan shortening are two independent events in vertebrates. Copyright © 2018 The Author(s). Published by Elsevier Inc. All rights reserved.

  6. 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

  7. Sporadic Premature Aging in a Japanese Monkey: A Primate Model for Progeria

    Science.gov (United States)

    Oishi, Takao; Imai, Hiroo; Go, Yasuhiro; Imamura, Masanori; Hirai, Hirohisa; Takada, Masahiko

    2014-01-01

    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. PMID:25365557

  8. 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

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

    NARCIS (Netherlands)

    H.W.M. van de Ven (Marieke); J.-O. Andressoo (Jaan-Olle); V.B. Holcomb (Valerie); M.M. von Lindern (Marieke); W.M.C. Jong (Willeke); C.I. de Zeeuw (Chris); Y. Suh (Yousin); P. Hasty (Paul); J.H.J. Hoeijmakers (Jan); G.T.J. van der Horst (Gijsbertus); J.R. Mitchell (James)

    2006-01-01

    textabstractHow 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

  10. H-H interactions in Pd

    DEFF Research Database (Denmark)

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

    1989-01-01

    -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...

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

    OpenAIRE

    Ven, Marieke; Andressoo, Jaan-Olle; Holcomb, Valerie; Lindern, Marieke; Jong, Willeke; Zeeuw, Chris; Suh, Yousin; Hasty, Paul; Hoeijmakers, Jan; Horst, Gijsbertus; Mitchell, James

    2006-01-01

    textabstractHow 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 cul...

  12. Gemini-IFU spectroscopy of HH 111

    Energy Technology Data Exchange (ETDEWEB)

    Cerqueira, A. H.; Vasconcelos, M. J.; Feitosa, J.; Plana, H. [LATO-DCET, Universidade Estadual de Santa Cruz Rod. Jorge Amado, km 16, Ilhéus, BA, CEP 45662-900 (Brazil); Raga, A. C., E-mail: hoth@uesc.br [Instituto de Ciencias Nucleares, Universidad Nacional Autónoma de México, A.P. 70-543, 04510 D.F. (Mexico)

    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{sup ′′}×3.{sup ′′}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.

  13. Luminosity Targets for FCC-hh

    CERN Document Server

    Zimmermann, F.; Buffat, X.; Schulte, D.

    2016-01-01

    We discuss the choice of target values for the peak and integrated luminosity of a future high-energy frontier circular hadron collider (FCC-hh). We review the arguments on the physics reach of a hadron collider. Next we show that accelerator constraints will limit the beam current and the turnaround time. Taking these limits into account, we derive an expression for the ultimate integrated luminosity per year, depending on a possible pile-up limit imposed by the physics experiments. We finally benchmark our result against the planned two phases of FCC-hh [1, 2, 3

  14. Boosting ATM activity alleviates aging and extends lifespan in a mouse model of progeria.

    Science.gov (United States)

    Qian, Minxian; Liu, Zuojun; Peng, Linyuan; Tang, Xiaolong; Meng, Fanbiao; Ao, Ying; Zhou, Mingyan; Wang, Ming; Cao, Xinyue; Qin, Baoming; Wang, Zimei; Zhou, Zhongjun; Wang, Guangming; Gao, Zhengliang; Xu, Jun; Liu, Baohua

    2018-05-02

    DNA damage accumulates with age (Lombard et al., 2005). However, whether and how robust DNA repair machinery promotes longevity is elusive. Here, we demonstrate that ATM-centered DNA damage response (DDR) progressively declines with senescence and age, while low dose of chloroquine (CQ) activates ATM, promotes DNA damage clearance, rescues age-related metabolic shift, and prolongs replicative lifespan. Molecularly, ATM phosphorylates SIRT6 deacetylase and thus prevents MDM2-mediated ubiquitination and proteasomal degradation. Extra copies of Sirt6 extend lifespan in Atm-/- mice, with restored metabolic homeostasis. Moreover, the treatment with CQ remarkably extends lifespan of Caenorhabditis elegans , but not the ATM-1 mutants. In a progeria mouse model with low DNA repair capacity, long-term administration of CQ ameliorates premature aging features and extends lifespan. Thus, our data highlights a pro-longevity role of ATM, for the first time establishing direct causal links between robust DNA repair machinery and longevity, and providing therapeutic strategy for progeria and age-related metabolic diseases. © 2018, Qian et al.

  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. IFIN-HH, Scientific Report 2000

    International Nuclear Information System (INIS)

    Dragolici, Felicia; Enescu, Sanda-Elena; Oancea, Margareta; Preda, Mihaela; Prodan, Lucia; Raduta, Adriana; Sandu, Doina; Schiaua, Claudiu

    2001-01-01

    The annual report of the Horia Hulubei National Institute for Physics and Nuclear Engineering, IFIN-HH, on 2000 presents progress reports in the fields of Theoretical Physics (Nuclear and Atomic Physics (1 paper), Mathematical Physics, Field Theory and Elementary Particles (4 papers), Physics of Information (11 papers)), Nuclear Physics (Nuclear Structure (12 papers), Nuclear Reactions (11 papers), Applied Nuclear Physics (6 papers)), Atomic Physics (1 paper), Cosmic Rays and Nuclear Astrophysics (3 papers), Inertial Fusion, Physics of Neutrons and Nuclear Transmutations (3 papers), Nuclear Instruments and Methods (12 papers), Particle Physics (11 papers), Health and Environmental Physics (8 papers), Applied Physics (13 papers), Tracers, Radiopharmaceuticals and Radiometry (8 papers), Waste management and Site Restoration (1 paper) and Standardization (2 papers). Appendices are added listing the publications in journals, monographs and as preprints, contributions to international conferences, PhD theses, and scientific exchanges (foreign visitors, invited seminars, visits abroad, seminars abroad). Finally the Institute scientific board and research staff are listed

  17. IFIN-HH, Scientific Report 1999

    International Nuclear Information System (INIS)

    Carstea, Stefan; Dragulici, Felicia; Enescu, Sanda-Elena; Oancea, Margareta; Preda, Mihaela; Prodan, Lucia; Raduta, Adriana; Sandu, Doina; Schiaua, Claudiu

    2000-01-01

    The annual report of the Horia Hulubei National Institute for Physics and Nuclear Engineering, IFIN-HH, on 1999 presents progress reports in the fields of Theoretical Physics (Nuclear and Atomic Physics (14 papers); Mathematical Physics, Field Theory and Elementary Particles (5 ); Physics of Information (6)), Nuclear Physics (Nuclear Structure (11), Nuclear Reactions (10), Atomic Physics (3), Cosmic Rays and Nuclear Astrophysics (3), Physics of Neutrons (2); Nuclear Instruments and Methods (11)), Particle Physics (7), Health and Environmental Physics (10), Applied Physics (21), Tracers, Radiopharmaceuticals and Radiometry (16), Technological Development (2), Waste management and Site Restoration (2) and Standardization (4). Appendices are added listing the publications in journals, monographs and as preprints, contributions to international conferences, PhD theses, and scientific exchanges (foreign visitors, invited seminars, visits abroad, seminars abroad). Finally the Institute scientific board and research staff are listed

  18. IFIN-HH, Scientific Report 2001 - 2002

    International Nuclear Information System (INIS)

    Oancea, Margareta; Schiaua, Claudiu; Grecu, Dan; Dumitriu, Marinela

    2003-01-01

    The annual report of the Horia Hulubei National Institute for Physics and Nuclear Engineering - IFIN-HH on 2001-2002 presents progress reports in the fields of Theoretical Physics (Nuclear, Atomic and Molecular Physics, Mathematical Physics, Field Theory and Elementary Particles, Computational Physics (Physics of Information) and Solid State Physics), Nuclear Physics (Nuclear Structure, Nuclear Reaction, Atomic Physics, Cosmic Rays and Nuclear Astrophysics, Inertial Fusion, Physics of Neutrons and Nuclear Transmutation, Nuclear Instruments and Methods), Particle Physics, Health and Environmental Physics, Applied Physics, Tracers, Radiopharmaceuticals and Radiometry, Waste Management and Site Restoration and Standardization. Appendices are added listing the publications in journals, books and preprints, participations in international conferences and scientific exchanges (foreign visitors, visits abroad, seminars abroad). Finally, the Institute directorate and research staff are listed

  19. 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.

  20. Ammonia toroid aligned perpendicular to the HH 1 and HH 2 bipolar outflow

    International Nuclear Information System (INIS)

    Torrelles, J.M.; Canto, J.; Rodriguez, L.F.; Ho, P.T.P.; Moran, J.M.; Universidad Nacional Autonoma de Mexico, Mexico City)

    1985-01-01

    The ammonia emission from the region containing the Herbig-Haro objects 1 and 2, which mark the presence of a bipolar outflow, was mapped. The ammonia observations delineate an elongated structure aligned perpendicular to the bipolar outflow. This ammonia condensation is centered between HH 1 and HH 2 and coincides with the recently discovered central radio continuum source. This continuum source has no optical counterpart. The ammonia spectrum at the position of the continuum source shows a remarkable splitting. Based on the orientation of the bipolar outflow, which is known to be oriented nearly perpendicular to the line of sight, and on theoretical considerations, it is concluded that the ammonia source is part of a toroid, viewed edge-on, in slow expansion driven by the wind pressure of the central source. This toroid may be the focusing mechanism for the bipolar outflow. Searches for ammonia condensations in the vicinity of other HH objects may help localize the energy sources of these systems. 26 references

  1. The IFIN-HH triple coincidence liquid scintillation counter

    CSIR Research Space (South Africa)

    Razdolescu, AC

    2006-10-01

    Full Text Available at IFIN-HH using a 3 H standard. The performances of the IFIN-HH TDCR counter was checked against the measurement results of the TDCR counters of CSIR NML (South Africa), RC (Poland) and LNHB (France). A set of ready-to-measure Ni-63 sources in liquid...

  2. Observation of the HH 1 and 2 region with IRAS

    International Nuclear Information System (INIS)

    Pravdo, S.H.; Chester, T.J.

    1987-01-01

    Infrared Astronomical Satellite (IRAS) observations of the region in Orion containing HH 1 and 2 reveal for the first time the large-scale distribution of newly formed stars. New infrared sources discovered in these observations are discussed, and attempts are made to untangle the complex infrared morphology of this field. A major finding of this study is that HH 1 is near the peak of an intense and broad plateau of 60 and 100 micron emission that spatially corresponds well with the boundaries of a previously detected molecular cloud. Other findings include the detection of an emitting circum-HH object dust complex around HH 2, 25 micron emission associated with the putative HH 1 and 2 exciting source discovered with the VLA, a new luminous far-infrared source, and numerous infrared source complexes, some in blank optical fields and others in fields containing optical emission-line stars. 37 references

  3. The dynamics of Herbig-Haro objects HH46 and 47A and their remarkable connecting filament HH47B

    International Nuclear Information System (INIS)

    Meaburn, J.; Dyson, J.E.

    1987-01-01

    Echelle observations of the Hα and [S II] line profiles have been made with the Anglo-Australian Telescope along the emission-line filament (HH47B) which connects the Herbig-Haro objects HH46 and 47A. A red continuum source between HH46 and the 10μm peak has a +-200kms -1 wide Hα component centred on the rest velocity of the parent globule. Scattered radiation from an embedded T Tauri star is suggested. HH46 and 47A are receding away from the observer but the connecting filament exhibits some form of velocity ellipse. The bipolar configuration had been previously suggested by the discovery of the counter object HH47C with Vsub(HEL) = 100kms -1 . (author)

  4. PROPER MOTIONS OF THE HH 110/270 SYSTEM

    Energy Technology Data Exchange (ETDEWEB)

    Kajdic, P. [Instituto de Astronomia, UNAM, Mexico D.F. (Mexico); Reipurth, B.; Walawender, J. [Institute for Astronomy, University of Hawaii at Manoa, 640 N. A' ohoku Place, Hilo, HI 96720 (United States); Raga, A. C. [Instituto de Ciencias Nucleares, UNAM, Mexico D.F. (Mexico); Bally, J., E-mail: primoz@geofisica.unam.mx, E-mail: reipurth@IfA.Hawaii.Edu, E-mail: raga@nucleares.unam.mx, E-mail: John.Bally@casa.colorado.edu, E-mail: joshw@ifa.hawaii.edu [CASA, University of Colorado, 389 UCB, Boulder, CO 80309-0389 (United States)

    2012-05-15

    We present a study of the HH 110/270 system based on three sets of optical images obtained with the ESO New Technology Telescope, the Subaru Telescope, and the Hubble Space Telescope (HST). The ground-based observations are made in the H{alpha} and [S II] emission lines and the HST observations are made in the H{alpha} line only. Ground-based observations reveal the existence of nine knots, which have not been previously discussed and offer some important insight into the HH 110/270 history. We perform a kinematic study of the HH 110/270 system and an analysis of its emission properties. We measure proper motions of all the knots in the system. Four of the newly identified knots belong to the HH 270 jet. Their positions indicate that the jet's axis changed its direction in the past. We speculate that similar changes may have occurred many times in the past and this could be part of the reason for the unusual structure of the HH 110 jet. The HST observations allow us to resolve individual knots into their substructures and to measure their proper motions. These measurements show that the knots are highly turbulent structures. Finally, we report the discovery of four new Herbig-Haro (HH) objects located near the HH 110/270 system.

  5. PROPER MOTIONS OF THE HH 110/270 SYSTEM

    International Nuclear Information System (INIS)

    Kajdič, P.; Reipurth, B.; Walawender, J.; Raga, A. C.; Bally, J.

    2012-01-01

    We present a study of the HH 110/270 system based on three sets of optical images obtained with the ESO New Technology Telescope, the Subaru Telescope, and the Hubble Space Telescope (HST). The ground-based observations are made in the Hα and [S II] emission lines and the HST observations are made in the Hα line only. Ground-based observations reveal the existence of nine knots, which have not been previously discussed and offer some important insight into the HH 110/270 history. We perform a kinematic study of the HH 110/270 system and an analysis of its emission properties. We measure proper motions of all the knots in the system. Four of the newly identified knots belong to the HH 270 jet. Their positions indicate that the jet's axis changed its direction in the past. We speculate that similar changes may have occurred many times in the past and this could be part of the reason for the unusual structure of the HH 110 jet. The HST observations allow us to resolve individual knots into their substructures and to measure their proper motions. These measurements show that the knots are highly turbulent structures. Finally, we report the discovery of four new Herbig-Haro (HH) objects located near the HH 110/270 system.

  6. Genetics Home Reference: McLeod neuroacanthocytosis syndrome

    Science.gov (United States)

    ... Castiglioni C, Oechsner M, Goebel HH, Heppner FL, Jung HH. McLeod myopathy revisited: more neurogenic and less ... 130(Pt 12):3285-96. Citation on PubMed Jung HH, Danek A, Frey BM. McLeod syndrome: a ...

  7. Impaired genome maintenance suppresses the growth hormone--insulin-like growth factor 1 axis in mice with Cockayne syndrome.

    NARCIS (Netherlands)

    I. van der Pluijm (Ingrid); G.A. Garinis (George); R.M.C. Brandt (Renata); T.G.M.F. Gorgels (Theo); S.W.P. Wijnhoven (Susan); K.E.M. Diderich (Karin); J. de Wit (Jan); J.R. Mitchell (James); C.T.M. van Oostrom (Conny); R.B. Beems (Rudolf); L.J. Niedernhofer (Laura); S. Velasco (Susana); E.C. Friedberg (Errol); K. Tanaka (Kiyoji); H. van Steeg (Harry); J.H.J. Hoeijmakers (Jan); G.T.J. van der Horst (Gijsbertus)

    2006-01-01

    textabstractCockayne 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

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

    Science.gov (United States)

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

    2006-01-01

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

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

    Science.gov (United States)

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

    2006-12-15

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

  10. 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.

  11. The spectrographic orbit of the eclipsing binary HH Carinae

    International Nuclear Information System (INIS)

    Mandrini, C.H.; Mendez, R.H.; Niemela, V.S.; Ferrer, O.E.

    1985-01-01

    We present a radial velocity study of the eclipsing binary system HH Carinae, and determine for the first time its spectrographic orbital elements. Using the results of a previous photometric study by Soderhjelm, we also determine the values of the masses and dimensions of the binary components. (author)

  12. 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.

  13. Genetics Home Reference: Leigh syndrome

    Science.gov (United States)

    ... Syndrome Overview. 2015 Oct 1. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  14. THE POLARIMETRIC AND PHOTOMETRIC VARIABILITY OF HH 30

    International Nuclear Information System (INIS)

    Duran-Rojas, MarIa Carolina; Watson, Alan M.; Stapelfeldt, Karl R.; Hiriart, David

    2009-01-01

    We have obtained ground-based photopolarimetry of the young stellar object HH 30 over the course of one year. Our observations reveal the presence of a dominant periodic modulation of the polarization with a period of 7.49 ± 0.04 days or one of the aliases of this period close to 1 day. There are also suggestions of a weak periodic modulation in the photometry with the same period but a phase displaced by one quarter of a period. These results are in agreement with the lighthouse model for HH 30, in which a beam or shadow from a central source sweeps across the disk. Our observations by themselves appear to be consistent with both of the mechanisms that have been proposed for the lighthouse-asymmetric accretion hot spots on the star or orbiting clumps or voids in the disk-and provide strong quantitative constraints for future models.

  15. 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.

  16. hh+ {Jet} production at 100 TeV

    Science.gov (United States)

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

    2018-04-01

    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+ {jet} channel at a future 100 TeV hadron collider. We focus on the hh→ b\\bar{b} b\\bar{b} and hh → b\\bar{b} τ ^+τ ^- 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 → b\\bar{b} τ ^+τ ^- 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% level in this channel alone.

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

    International Nuclear Information System (INIS)

    Riaz, B.; Whelan, E. T.

    2015-01-01

    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 bol  ∼ 0.1 L ⊙ , 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 −10 M ⊙ yr −1 and (3.0 ± 1.0) × 10 −10 M ⊙ yr −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

  18. Development of the computer network of IFIN-HH

    International Nuclear Information System (INIS)

    Danet, A.; Mirica, M.; Constantinescu, S.

    1998-01-01

    The general computer network of Horia Hulubei National Institute for Physics and Nuclear Engineering (IFIN-HH), as part of RNC (Romanian National Computer Network for scientific research and technological development), offers the Romanian physics research community an efficient and cost-effective infrastructure to communicate and collaborate with fellow researchers abroad, and to collect and exchange the most up-to-date information in their research area. RNC is the national project co-ordinated and established by the Ministry of Research and Technology targeted on the following main objectives: - setting up a technical and organizational infrastructure meant to provide national and international electronic services for the Romanian scientific research community; - providing a rapid and competitive tool for the exchange information in the framework of R-D community; - using the scientific and technical data bases available in the country and offered by the national networks from other countries through international networks; - providing a support for information, documentation, scientific and technical co-operation. The guiding principle in elaborating the project of general computer network of IFIN-HH was to implement an open system based on OSI standards without technical barriers in communication between different communities using different computing hardware and software. The major objectives achieved in 1997 in the direction of developing the general computer network of IFIN-HH (over 250 computers connected) were: - connecting all the existing and newly installed computer equipment and providing an adequate connectivity; - providing the usual Internet services: e-mail, ftp, telnet, finger, gopher; - providing access to the World Wide Web resources; - providing on-line statistics of IP traffic (input and output) of each node of the domain computer network; - improving the performance of the connection with the central node RNC. (authors)

  19. 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.

  20. 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

  1. Developments of the general computer network of NIPNE-HH

    International Nuclear Information System (INIS)

    Mirica, M.; Constantinescu, S.; Danet, A.

    1997-01-01

    Since 1991 the general computer network of NIPNE-HH was developed and connected to RNCN (Romanian National Computer Network) for research and development and it offers to the Romanian physics research community an efficient and cost-effective infrastructure to communicate and collaborate with fellow researchers abroad, and to collect and exchange the most up-to-date information in their research area. RNCN is targeted on the following main objectives: Setting up a technical and organizational infrastructure meant to provide national and international electronic services for the Romanian scientific research community; - Providing a rapid and competitive tool for the exchange of information in the framework of Research and Development (R-D) community; - Using the scientific and technical data bases available in the country and offered by the national networks from other countries through international networks; - Providing a support for information, scientific and technical co-operation. RNCN has two international links: to EBONE via ACONET (64kbps) and to EuropaNET via Hungarnet (64 kbps). The guiding principle in designing the project of general computer network of NIPNE-HH, as part of RNCN, was to implement an open system based on OSI standards taking into account the following criteria: - development of a flexible solution, according to OSI specifications; - solutions of reliable gateway with the existing network already in use,allowing the access to the worldwide networks; - using the TCP/IP transport protocol for each Local Area Network (LAN) and for the connection to RNCN; - ensuring the integration of different and heterogeneous software and hardware platforms (DOS, Windows, UNIX, VMS, Linux, etc) through some specific interfaces. The major objectives achieved in direction of developing the general computer network of NIPNE-HH are: - linking all the existing and newly installed computer equipment and providing an adequate connectivity. LANs from departments

  2. HH 222: A GIANT HERBIG-HARO FLOW FROM THE QUADRUPLE SYSTEM V380 ORI

    Energy Technology Data Exchange (ETDEWEB)

    Reipurth, Bo; Aspin, Colin; Connelley, M. S. [Institute for Astronomy, University of Hawaii at Manoa, 640 North Aohoku Place, Hilo, HI 96720 (United States); Bally, John [Center for Astrophysics and Space Astronomy, University of Colorado, Boulder, CO 80309 (United States); Geballe, T. R. [Gemini Observatory, 670 North Aohoku Place, Hilo, HI 96720 (United States); Kraus, Stefan [Harvard-Smithsonian Center for Astrophysics, 60 Garden Street, MS-78, Cambridge, MA 02138 (United States); Appenzeller, Immo [Landessternwarte Heidelberg, Königstuhl 12, D-69117 Heidelberg (Germany); Burgasser, Adam, E-mail: reipurth@ifa.hawaii.edu, E-mail: caa@ifa.hawaii.edu, E-mail: msc@ifa.hawaii.edu, E-mail: John.Bally@colorado.edu, E-mail: tgeballe@gemini.edu, E-mail: stefan.kraus@cfa.harvard.edu, E-mail: iappenze@lsw.uni-heidelberg.de, E-mail: aburgasser@ucsd.edu [Center for Astrophysics and Space Science, University of California San Diego, La Jolla, CA 92093 (United States)

    2013-11-01

    HH 222 is a giant shocked region in the L1641 cloud, and is popularly known as the Orion Streamers or ''the waterfall'' on account of its unusual structure. At the center of these streamers are two infrared sources coincident with a nonthermal radio jet aligned along the principal streamer. The unique morphology of HH 222 has long been associated with this radio jet. However, new infrared images show that the two sources are distant elliptical galaxies, indicating that the radio jet is merely an improbable line-of-sight coincidence. Accurate proper motion measurements of HH 222 reveal that the shock structure is a giant bow shock moving directly away from the well-known, very young, Herbig Be star V380 Ori. The already known Herbig-Haro object HH 35 forms part of this flow. A new Herbig-Haro object, HH 1041, is found precisely in the opposite direction of HH 222 and is likely to form part of a counterflow. The total projected extent of this HH complex is 5.3 pc, making it among the largest HH flows known. A second outflow episode from V380 Ori is identified as a pair of HH objects, HH 1031 to the northwest and the already known HH 130 to the southeast, along an axis that deviates from that of HH 222/HH 1041 by only 3.°7. V380 Ori is a hierarchical quadruple system, including a faint companion of spectral type M5 or M6, which at an age of ∼1 Myr corresponds to an object straddling the stellar-to-brown dwarf boundary. We suggest that the HH 222 giant bow shock is a direct result of the dynamical interactions that led to the conversion from an initial non-hierarchical multiple system into a hierarchical configuration. This event occurred no more than 28,000 yr ago, as derived from the proper motions of the HH 222 giant bow shock.

  3. HIGH ANGULAR RESOLUTION MULTI-LINE STUDY OF HH 1 AND 2

    Energy Technology Data Exchange (ETDEWEB)

    Raga, A. C.; Castellanos-Ramírez, A. [Instituto de Ciencias Nucleares, Universidad Nacional Autónoma de México, Ap. 70-543, 04510 D.F., México (Mexico); Reipurth, Bo; Chiang, Hsin-Fang [Institute for Astronomy, University of Hawaii at Manoa, Hilo, HI 96720 (United States); Bally, J., E-mail: raga@nucleares.unam.mx [Center for Astrophysics and Space Astronomy, University of Colorado, UCB 389, Boulder, CO 80309 (United States)

    2015-10-15

    We present new Hubble Space Telescope (HST) narrow band images of the bright Herbig–Haro (HH) objects HH 1 and 2 in the light of the Hα, Hβ, [O i] 6300, [O ii] 3726+28, [O iii] 5007 and [S ii] 6716+30 emission lines. The resulting emission and line ratio maps give an improved picture of the physical structure of these HH objects, showing the presence of spatially limited, high excitation/ionization ridges. We find that HH 1 has a morphology that could be interpreted in terms of a single, asymmetric bow shock, and that many of the clumps of HH 2 fall in two bow-shaped structures of different excitations. We also construct two-line ratio plots showing clear trends, which are much simpler than the highly complex spatial distributions of the emission, and are therefore interesting for testing shock models of HH objects (we only present a comparison with previously published, steady plane-parallel shock models). We have also used the temperature-sensitive [O i]/[S ii] line ratio to evaluate the temperature range and to obtain temperature maps of HH 1 and 2. We find that this line ratio picks out emitting regions with temperatures ≈10{sup 4} K, except along the leading edges of the HH 1 and 2 bow shocks (in which temperatures of ∼3 → 5 × 10{sup 4} K are obtained)

  4. A Comparison of the Radio and Optical Time-Evolution of HH 1 and 2

    Science.gov (United States)

    Rodríguez, L. F.; Raga, A. C.; Rodríguez-Kamenetzky, A.; Carrasco-González, C.

    2018-04-01

    We present a comparison between the time-evolution over the past ≍20 years of the radio continuum and Hα emission of HH 1 and 2. We find that the radio continuum and the Hα emission of both objects show very similar trends, with HH 1 becoming fainter and HH 2 brightening quite considerably (by about a factor of 2). We also find that the FHα /Fff (Hα to freefree continuum) ratio of HH 1 and 2 has higher values than the ones typically found in planetary nebulae (PNe), which we interpret as an indication that the Hα and free-free emission of HH 1/2 is produced in emitting regions with lower temperatures (≍2000 K) than the emission of PNe (with ≍104 K).

  5. Narrowband imaging of the Herbig-Haro object HH 46/47

    International Nuclear Information System (INIS)

    Raga, A.C.; Mateo, M.

    1987-01-01

    Narrow-band CCD images of the HH 46/47 system were obtained in the light of the H-alpha, forbidden N II 6583-A forbidden S II 6717-A and forbidden S II 6731-A emission lines. The images include HH 46, HH 47B, and HH 47A. A calibration for these images was carried out that makes it possible to calculate line ratios, and then use these line ratios as diagnostics of the physical conditions in the radiating gas. The study shows that the bright condensation HH 47A has a higher electron density and a lower excitation spectrum than the jet that joins this condensation to the central source. This result does not agree with the observations of other morphologically similar Herbig-Haro objects. 36 references

  6. Mammotome HH biopsy - the future of minimal invasive breast surgery?

    International Nuclear Information System (INIS)

    Pietrzyk, G.; Nowicki, J.; Bojarski, B.; Kedzierski, B.; Wysocki, A.; Prudlak, E.

    2007-01-01

    Vacuum-assisted breast biopsy / Mammotome HH '' R '' Breast Biopsy System/ is the milestone in the diagnosis of breast lesions. This system has proven to be as diagnostically reliable as open surgery, but without scarring, deformations and hospitalizations associated with an open procedure. The aim of our study was to assess the role and possibilities of using this biopsy in treatment of benign breast lesions like fibroadenoma. From 2001 to 2004, about 1118 Mammotome biopsies were performed in our Department. Among 445 Mammotome biopsies performed under US control there were 211 cases of fibroadenomas. Follow-up was performed in 156 patients with this result at 6 and 12 months after biopsy. In our study we took into considerations the size, localizations as well as performers. In 2002 there were 70.8% patients with total lesion excision, 16.7% with residual lesion and 12.5% women with hematomas or scars. In 2003-2004 there were more women with total lesion excision (84.3%), fewer residual tumors and other lesions. In future, Mammotome breast biopsy can replace scalpel, and will become an alternative method to open surgical excision of fibroadenomas. It is important especially in the cases of young women to prevent cosmetic deformations and scars. (author)

  7. ALMA OBSERVATIONS OF THE HH 46/47 MOLECULAR OUTFLOW

    International Nuclear Information System (INIS)

    Arce, Héctor G.; Mardones, Diego; Garay, Guido; Corder, Stuartt A.; Noriega-Crespo, Alberto; Raga, Alejandro C.

    2013-01-01

    The morphology, kinematics, and entrainment mechanism of the HH 46/47 molecular outflow were studied using new ALMA Cycle 0 observations. Results show that the blue and red lobes are strikingly different. We argue that these differences are partly due to contrasting ambient densities that result in different wind components having a distinct effect on the entrained gas in each lobe. A 29 point mosaic, covering the two lobes at an angular resolution of about 3'', detected outflow emission at much higher velocities than previous observations, resulting in significantly higher estimates of the outflow momentum and kinetic energy than previous studies of this source, using the CO(1-0) line. The morphology and the kinematics of the gas in the blue lobe are consistent with models of outflow entrainment by a wide-angle wind, and a simple model describes the observed structures in the position-velocity diagram and the velocity-integrated intensity maps. The red lobe exhibits a more complex structure, and there is evidence that this lobe is entrained by a wide-angle wind and a collimated episodic wind. Three major clumps along the outflow axis show velocity distribution consistent with prompt entrainment by different bow shocks formed by periodic mass ejection episodes which take place every few hundred years. Position-velocity cuts perpendicular to the outflow cavity show gradients where the velocity increases toward the outflow axis, inconsistent with outflow rotation. Additionally, we find evidence for the existence of a small outflow driven by a binary companion

  8. Genetics Home Reference: 7q11.23 duplication syndrome

    Science.gov (United States)

    ... Duplication Syndrome. 2015 Nov 25. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  9. 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

    2018-01-01

    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.

  10. Bovine exome sequence analysis and targeted SNP genotyping of recessive fertility defects BH1, HH2, and HH3 reveal a putative causative mutation in SMC2 for HH3.

    Science.gov (United States)

    McClure, Matthew C; Bickhart, Derek; Null, Dan; Vanraden, Paul; Xu, Lingyang; Wiggans, George; Liu, George; Schroeder, Steve; Glasscock, Jarret; Armstrong, Jon; Cole, John B; Van Tassell, Curtis P; Sonstegard, Tad S

    2014-01-01

    The recent discovery of bovine haplotypes with negative effects on fertility in the Brown Swiss, Holstein, and Jersey breeds has allowed producers to identify carrier animals using commercial single nucleotide polymorphism (SNP) genotyping assays. This study was devised to identify the causative mutations underlying defective bovine embryo development contained within three of these haplotypes (Brown Swiss haplotype 1 and Holstein haplotypes 2 and 3) by combining exome capture with next generation sequencing. Of the 68,476,640 sequence variations (SV) identified, only 1,311 genome-wide SNP were concordant with the haplotype status of 21 sequenced carriers. Validation genotyping of 36 candidate SNP identified only 1 variant that was concordant to Holstein haplotype 3 (HH3), while no variants located within the refined intervals for HH2 or BH1 were concordant. The variant strictly associated with HH3 is a non-synonymous SNP (T/C) within exon 24 of the Structural Maintenance of Chromosomes 2 (SMC2) on Chromosome 8 at position 95,410,507 (UMD3.1). This polymorphism changes amino acid 1135 from phenylalanine to serine and causes a non-neutral, non-tolerated, and evolutionarily unlikely substitution within the NTPase domain of the encoded protein. Because only exome capture sequencing was used, we could not rule out the possibility that the true causative mutation for HH3 might lie in a non-exonic genomic location. Given the essential role of SMC2 in DNA repair, chromosome condensation and segregation during cell division, our findings strongly support the non-synonymous SNP (T/C) in SMC2 as the likely causative mutation. The absence of concordant variations for HH2 or BH1 suggests either the underlying causative mutations lie within a non-exomic region or in exome regions not covered by the capture array.

  11. Bovine exome sequence analysis and targeted SNP genotyping of recessive fertility defects BH1, HH2, and HH3 reveal a putative causative mutation in SMC2 for HH3.

    Directory of Open Access Journals (Sweden)

    Matthew C McClure

    Full Text Available The recent discovery of bovine haplotypes with negative effects on fertility in the Brown Swiss, Holstein, and Jersey breeds has allowed producers to identify carrier animals using commercial single nucleotide polymorphism (SNP genotyping assays. This study was devised to identify the causative mutations underlying defective bovine embryo development contained within three of these haplotypes (Brown Swiss haplotype 1 and Holstein haplotypes 2 and 3 by combining exome capture with next generation sequencing. Of the 68,476,640 sequence variations (SV identified, only 1,311 genome-wide SNP were concordant with the haplotype status of 21 sequenced carriers. Validation genotyping of 36 candidate SNP identified only 1 variant that was concordant to Holstein haplotype 3 (HH3, while no variants located within the refined intervals for HH2 or BH1 were concordant. The variant strictly associated with HH3 is a non-synonymous SNP (T/C within exon 24 of the Structural Maintenance of Chromosomes 2 (SMC2 on Chromosome 8 at position 95,410,507 (UMD3.1. This polymorphism changes amino acid 1135 from phenylalanine to serine and causes a non-neutral, non-tolerated, and evolutionarily unlikely substitution within the NTPase domain of the encoded protein. Because only exome capture sequencing was used, we could not rule out the possibility that the true causative mutation for HH3 might lie in a non-exonic genomic location. Given the essential role of SMC2 in DNA repair, chromosome condensation and segregation during cell division, our findings strongly support the non-synonymous SNP (T/C in SMC2 as the likely causative mutation. The absence of concordant variations for HH2 or BH1 suggests either the underlying causative mutations lie within a non-exomic region or in exome regions not covered by the capture array.

  12. A MULTI-WAVELENGTH STUDY OF THE STAR-FORMING CORE AHEAD OF HH 80N

    International Nuclear Information System (INIS)

    Masque, Josep M.; Estalella, Robert; Osorio, Mayra; Anglada, Guillem; Girart, Josep M.; Garay, Guido; Calvet, Nuria; Beltran, Maria T.

    2011-01-01

    We present observations of continuum emission in the mid-infrared to millimeter wavelength range, complemented with ammonia observations, of the dense core ahead of the radio Herbig-Haro (HH) object HH 80N, found in the GGD 27 region. The continuum emission in all the observed bands peaks at the same position, consistent with the presence of an embedded object, HH 80N-IRS1, within the core. The distribution of the Very Large Array ammonia emission is well correlated with that of the dust, suggesting that photochemical effects caused by the nearby HH object do not play an important role in shaping this particular molecular emission. In order to unveil the nature of HH 80N-IRS1, we analyzed the continuum data of this source, using self-consistent models of protostellar collapse. We find that a young protostar surrounded by a slowly rotating collapsing envelope of radius ∼0.08 pc and 20 M sun plus a circumstellar disk of radius ∼300 AU and 0.6 M sun provide a good fit to the observed spectral energy distribution and to the maps at 350 μm, 1.2 mm, and 3.5 mm of HH 80N-IRS1. Besides, the Atacama Pathfinder Experiment and Plateau de Bure Interferometer continuum maps at 350 μm and 3.5 mm, respectively, reveal additional clumps in the continuum emission. Given the modeling results and the observed morphology of the emission, we propose a scenario consisting of a central embedded Class 0 object, HH 80N-IRS1, with the rest of the material of the HH 80N core possibly undergoing fragmentation that may lead to the formation of several protostars.

  13. 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.

  14. Observations of high-velocity molecular gas near Herbig-Haro objects: HH 24--27 and HH 1--2

    International Nuclear Information System (INIS)

    Snell, R.L.; Edwards, S.

    1982-01-01

    High-velocity CO has been detected in the vicinity of the Herbig-Haro objects HH 24--27. These observations indicate that there are two sources of high-velocity outflow; one centered on an infrared source near HH 26, and the second centered roughly 2' south of HH 24. The redshifted and blueshifted wings in both sources are spatially separated suggesting that the high-velocity gas is due to energetic bipolar outflow from young stars embedded in the molecular cloud. The association of Herbig-Haro objects with regions of high-velocity gas suggests a common origin for both in the interaction of a stellar wind with the ambient molecular cloud. The mass loss rates implied by our observations, assuming that the rate of mass loss has been constant throughout the dynamical lifetime of the bipolar lobes, are roughly 10 -6 M/sub sun/ yr -1 for both sources. We have also searched for high-velocity gas near HH 1--2 but found no evidence for mass outflow in this region

  15. 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

  16. COLLISIONALLY EXCITED FILAMENTS IN HUBBLE SPACE TELESCOPE Hα AND Hβ IMAGES OF HH 1/2

    Energy Technology Data Exchange (ETDEWEB)

    Raga, A. C.; Castellanos-Ramírez, A. [Instituto de Ciencias Nucleares, Universidad Nacional Autónoma de México, Ap. 70-543, 04510 México, D.F. (Mexico); Reipurth, B.; Chiang, Hsin-Fang [Institute for Astronomy, University of Hawaii at Manoa, Hilo, HI 96720 (United States); Bally, J., E-mail: raga@nucleares.unam.mx [Center for Astrophysics and Space Astronomy, University of Colorado, UCB 389, Boulder, CO 80309 (United States)

    2015-01-01

    We present new Hα and Hβ images of the HH 1/2 system, and we find that the Hα/Hβ ratio has high values in ridges along the leading edges of the HH 1 bow shock and of the brighter condensations of HH 2. These ridges have Hα/Hβ = 4 → 6, which is consistent with collisional excitation from the n = 1 to the n = 3 and 4 levels of hydrogen in a gas of temperatures T = 1.5 → 10 × 10{sup 4} K. This is therefore the first direct evidence that the collisional excitation/ionization region of hydrogen just behind Herbig-Haro shock fronts is detected.

  17. 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.

  18. 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.

  19. Learning about Progeria

    Science.gov (United States)

    ... Care Genomic Medicine Working Group New Horizons and Research Patient Management Policy and Ethics Issues Quick Links for Patient Care Education All About the Human Genome Project Fact Sheets Genetic Education Resources for ...

  20. Progeria Research Foundation, Inc.

    Science.gov (United States)

    ... Million Views – Celebrate with Us! Sam’s talk, "My Philosophy for a Happy Life", has inspired over 25 ... July 11th, 2016 | 0 Comments PRF Continues Aggressive Research Agenda Events November 25, 2017 in Verona, NJ: ...

  1. Considerations on operation schedule and maintenance aspects of FCC-hh

    CERN Document Server

    Niemi, Arto; Foraz, Katy

    2018-01-01

    The Future Circular Hadron Collider (FCC-hh) has ambitious goals for integrated luminosity production. Reaching these goals requires reducing the time for planned technical stops and commissioning, compared to the LHC. This note describes potential options for an FCC-hh operation schedule. Special attention is given to considerations on how to accomplish the required maintenance activities in a limited time frame. The note recommends to study further the feasibility and cost-efficiency of operating without annual stops and longer intervals between long shutdowns.

  2. 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.

  3. 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.

  4. HH-MIP: An Enhancement of Mobile IP by Home Agent Handover

    Directory of Open Access Journals (Sweden)

    Yang Chun-Chuan

    2010-01-01

    Full Text Available We propose an enhancement of Mobile IP (MIP called MIP with Home Agent Handover (HH-MIP to enjoy most of the advantages of Route Optimization MIP (ROMIP but with only a small increase of signaling overhead. In HH-MIP, the concept of Temporary HA (THA is proposed and the mobile host (MH registers the new CoA with its THA rather than its original HA. Since the THA of an MH is selected to be close to the current location of MH, HH-MIP reduces the handoff latency and shortens the signaling path of registration as well. Moreover, HH-MIP adopts an aggressive approach in selecting THA for an MH, that is, whenever an MH is moving away from its HA or previous THA, the MH triggers the handover of THA. Theoretical analysis demonstrates that the proposed scheme enjoys small handoff latency as well as routing efficiency, and the signaling cost of the proposed scheme is significantly less than that in ROMIP.

  5. THE MOLECULAR EMISSION OF THE IRRADIATED STAR-FORMING CORE AHEAD OF HH 80N

    International Nuclear Information System (INIS)

    Masque, Josep M.; Beltran, Maria T.; Estalella, Robert; Girart, Josep M.; Viti, Serena

    2009-01-01

    We present a Berkeley-Illinois-Maryland Association Array molecular survey of the star-forming core ahead of HH 80N, the optically obscured northern counterpart of the Herbig-Haro objects HH 80/81. Continuum emission at 1.4 mm and 8 μm is detected at the center of the core, which confirms the presence of an embedded very young stellar object in the core. All detected molecular species arise in a ringlike structure, which is most clearly traced by CS (2-1) emission. This molecular ring suggests that strong molecular depletion occurs in the inner part of the core (at a radius of ≅0.1 pc and densities higher than ∼5 x 10 4 cm -3 ). Despite the overall morphology and kinematic similarity between the different species, there is significant molecular differentiation along the ringlike structure. The analysis of the chemistry along the core shows that part of this differentiation may be caused by the UV irradiation of the nearby HH 80N object that illuminates the part of the core facing HH 80N, which results in an abundance enhancement of some of the detected species.

  6. 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.

  7. Hedgehog Pathway Inhibitor HhAntag691 Is a Potent Inhibitor of ABCG2/BCRP and ABCB1/Pgp

    Directory of Open Access Journals (Sweden)

    Yimao Zhang

    2009-01-01

    Full Text Available HhAntag691 (GDC-0449, a low-molecular weight inhibitor of the tumor-promoting hedgehog (Hh signaling pathway, has been used to treat medulloblastoma in animal models and has recently entered clinical trials for a variety of solid tumors. Here, we show that HhAntag691 inhibits multiple ATP-binding cassette (ABC transporters. ATP-binding cassette transporters are within a family of membrane proteins, the overexpression of which is associated with multidrug resistance, a major impediment to successful cancer treatment. HhAntag691 is a potent inhibitor of two ABC transporters, ABCG2/BCRP and ABCB1/Pgp, and is a mild inhibitor of ABCC1/MRP1. In ABCG2-overexpressing HEK293 cells, HhAntag691 increased retention of the fluorescent ABCG2 substrate BODIPY-prazosin and resensitized these cells to mitoxantrone, an antineoplastic ABCG2 substrate. In Madin-Darby canine kidney II cells engineered to overexpress Pgp or MRP1, HhAntag691 increased the retention of calcein-AM and resensitized them to colchicine. HhAntag691 also resensitized human non-small cell lung carcinoma cells NCI-H460/par and NCI-H460/MX20, which overexpress ABCG2 in response to mitoxantrone, to mitoxantrone, and to topotecan or SN-38. The IC50 values of HhAntag691 for inhibition of ABCG2 and Pgp were ∼1.4 and ∼3.0 µM, respectively. Because ABC transporters are highly expressed at the blood-brain barrier and on many tumor cells, they contribute significantly to treatment failure of many types of cancer, particularly of those within the neuraxis. In addition to its effect on Hh signaling, the ability of HhAntag691 and related compounds to inhibit two key ABC transporters could contribute to their effectiveness in treating malignancies.

  8. 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

  9. 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.

  10. Ultraboosted Zt and γt production at the HL-LHC and FCC-hh

    Energy Technology Data Exchange (ETDEWEB)

    Aguilar-Saavedra, J.A. [Universidad de Granada, Departamento de Fisica Teorica y del Cosmos, Granada (Spain)

    2017-11-15

    Searches for anomalous Zt and γt 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 γt production will reach the 10{sup -5} level, one order of magnitude better than the existing projections for t → uZ from t anti t production. For the FCC-hh, the limits on t → uZ/uγ could reach an impressive sensitivity at the 10{sup -6} level, with limits on t → cZ/cγ at the 10{sup -5} level. (orig.)

  11. The Time-Dependent Wavelet Spectrum of HH 1 and 2

    Science.gov (United States)

    Raga, A. C.; Reipurth, B.; Esquivel, A.; González-Gómez, D.; Riera, A.

    2018-04-01

    We have calculated the wavelet spectra of four epochs (spanning ≍20 yr) of Hα and [S II] HST images of HH 1 and 2. From these spectra we calculated the distribution functions of the (angular) radii of the emission structures. We found that the size distributions have maxima (corresponding to the characteristic sizes of the observed structures) with radii that are logarithmically spaced with factors of ≍2→3 between the successive peaks. The positions of these peaks generally showed small shifts towards larger sizes as a function of time. This result indicates that the structures of HH 1 and 2 have a general expansion (seen at all scales), and/or are the result of a sequence of merging events resulting in the formation of knots with larger characteristic sizes.

  12. Sudden rotation reactive scattering: Theory and application to 3-D H+H2

    International Nuclear Information System (INIS)

    Bowman, J.M.; Lee, K.T.

    1980-01-01

    An approximate quantum mechanical theory of reactive scattering is presented and applied to the H+H 2 reaction in three dimensions. Centrifugal sudden and rotational sudden approximations are made in each arrangement channel, however, vibrational states are treated in a fully coupled manner. Matching of arrangement channel wave functions is done where the arrangement channel centrifugal potentials are equal. This matching is particularly appropriate for collinearly favored reactions. Integral and differential cross sections are calculated for the H+H 2 reaction for H 2 in the ground and first excited vibrational states. These calculations employ the Porter--Karplus potential energy surface mainly to allow for comparisons with previous accurate and approximate quantal and quasiclassical calculations

  13. 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

  14. Exploring the $Z' \\rightarrow t\\overline{t}$ heavy resonance at FCC-hh

    CERN Document Server

    Smith, Rachel Emma Clarke

    2017-01-01

    My summer student project explored the feasibility of detecting final states with boosted top quarks at 100 TeV with the baseline FCC-hh detector. I focused specifically on the $Z' \\rightarrow t\\overline{t}$ hadronic process. I determined the exclusion cross-section of $Z' \\rightarrow t\\overline{t}$ and the integrated luminosity required to make a discovery at the baseline FCC detector at 95% confidence level.

  15. 20 years of cosmic muons research performed in IFIN-HH

    International Nuclear Information System (INIS)

    Mitrica, Bogdan

    2012-01-01

    During the last two decades a modern direction in particle physics research has been developed in IFIN-HH Bucharest, Romania. The history started with the WILLI detector built in IFIN-HH Bucharest in collaboration with KIT Karlsruhe (formerly Forschungszentrum Karlsruhe). The detector was designed for measurements of the low energy muon charge ratio ( 0.4GeV, show a diurnal modulation of the muon flux. The analysis of the muon events for energies 15 eV. Simulation studies and preliminary experimental tests, regarding the performances of the mini-array, have been performed using H and Fe primaries, with energies in a range 10 13 eV - 10 15 eV. The results show detailed effects of the direction of EAS incidence relative to the geomagnetic field, depending, in particular, of the primary mass. Based on the results, we can say that WILLI-EAS experiment could be used for testing the hadronic interaction models. Measurements of the high energy muon flux in underground of the salt mine from Slanic Prahova, Romania was performed using a new mobile detector developed in IFIN-HH, Bucharest. Consisting of 2 scintillator plates measuring in coincidence, the detector is installed on a van which facilitates measurements on different positions at surface or in underground. The detector was used to measure muon fluxes in different locations at surface or in underground. The detector was used to measure muon fluxes at different sites of Romania and in the underground of the salt mines from Slanic Prahova, Romania where IFIN-HH has a modern underground laboratory. New methods for the detection of cosmic ray muons are investigated in our institute based on scintillator techniques using optical fiber and MPPC photodyodes.

  16. The Three-Dimensional Structure of HH 32 from GMOS IFU Spectroscopy

    Science.gov (United States)

    Beck, Tracy L.; Riera, A.; Raga, A. C.; Aspin, C.

    2004-01-01

    We present new high-resolution spectroscopic observations of the Herbig-Haro object HH 32 from system verification observations made with the GMOS IFU at Gemini North Observatory. The three-dimensional spectral data cover a 8.7"×5.85" spatial field and 4820-7040 Å spectral region centered on the HH 32 A knot complex. We show the position-dependent line profiles and radial velocity channel maps of the Hα line, as well as line ratio velocity channel maps of [O III] λ5007/Hα, [O I] λ6300/Hα, [N II] λ6583/Hα, [S II] λλ(6716+6730)/Hα, and [S II] λ6716/λ6730. We find that the line emission and the line ratios vary significantly on spatial scales of ~1" and over velocities of ~50 km s-1. A ``3/2-dimensional'' bow shock model is qualitatively successful at reproducing the general features of the radial velocity channel maps, but it does not show the same complexity as the data, and it fails to reproduce the line ratios in our high spatial resolution maps. The observations of HH 32 A show two or three superposed bow shocks with separations of ~3", which we interpret as evidence of a line-of-sight superposition of two or three working surfaces located along the redshifted body of the HH 32 outflow. 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 National Science Foundation on behalf of the Gemini partnership: the NSF, the Particle Physics and Astronomy Research Council (United Kingdom), the National Research Council (Canada), CONICYT (Chile), the Australian Research Council (Australia), CNPq (Brazil), and CONICET (Argentina).

  17. Design and performance studies of a hadronic calorimeter for a FCC-hh experiment

    Science.gov (United States)

    Faltova, J.

    2018-03-01

    The hadron-hadron Future Circular Collider (FCC-hh) project studies the physics reach of a proton-proton machine with a centre-of-mass-energy of 100 TeV and five times greater peak luminosities than at the High-Luminosity LHC (HL-LHC). The high-energy regime of the FCC-hh opens new opportunities for the discovery of physics beyond the standard model. At 100 TeV a large fraction of the W, Z, H bosons and top quarks are produced with a significant boost. It implies an efficient reconstruction of very high energetic objects decaying hadronically. The reconstruction of those boosted objects sets the calorimeter performance requirements in terms of energy resolution, containment of highly energetic hadron showers, and high transverse granularity. We present the current baseline technologies for the calorimeter system in the barrel region of the FCC-hh reference detector: a liquid argon electromagnetic and a scintillator-steel hadronic calorimeters. The focus of this paper is on the hadronic calorimeter and the performance studies for hadrons. The reconstruction of single particles and the achieved energy resolution for the combined system of the electromagnetic and hadronic calorimeters are discussed.

  18. 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 ...

  19. The Intricate Structure of HH 508, the Brightest Microjet in the Orion Nebula

    Science.gov (United States)

    Wu, Ya-Lin; Close, Laird M.; Kim, Jinyoung Serena; Males, Jared R.; Morzinski, Katie M.

    2018-02-01

    We present Magellan adaptive optics Hα imaging of HH 508, which has the highest surface brightness among protostellar jets in the Orion Nebula. We find that HH 508 actually has a shorter component to the west, and a longer and knotty component to the east. The east component has a kink at 0.″3 from the jet-driving star θ 1 Ori B2, so it may have been deflected by the wind/radiation from the nearby θ 1 Ori B1B5. The origin of both components is unclear, but if each of them is a separate jet, then θ 1 Ori B2 may be a tight binary. Alternatively, HH 508 may be a slow-moving outflow, and each component represents an illuminated cavity wall. The ionization front surrounding θ 1 Ori B2B3 does not directly face θ 1 Ori B1B5, suggesting that the EUV radiation from θ 1 Ori C plays a dominant role in affecting the morphology of proplyds even in the vicinity of θ 1 Ori B1B5. Finally, we report an Hα blob that might be ejected by the binary proplyd LV 1.

  20. Binary energy source of the HH 250 outflow and its circumstellar environment

    Science.gov (United States)

    Comerón, Fernando; Reipurth, Bo; Yen, Hsi-Wei; Connelley, Michael S.

    2018-04-01

    Aims: Herbig-Haro flows are signposts of recent major accretion and outflow episodes. We aim to determine the nature and properties of the little-known outflow source HH 250-IRS, which is embedded in the Aquila clouds. Methods: We have obtained adaptive optics-assisted L-band images with the NACO instrument on the Very Large Telescope (VLT), together with N- and Q-band imaging with VISIR also on the VLT. Using the SINFONI instrument on the VLT we carried out H- and K-band integral field spectroscopy of HH 250-IRS, complemented with spectra obtained with the SpeX instrument at the InfraRed Telescope Facility (IRTF) in the JHKL bands. Finally, the SubMillimeter Array (SMA) interferometer was used to study the circumstellar environment of HH 250-IRS at 225 and 351 GHz with CO (2-1) and CO (3-2) maps and 0.9 mm and 1.3 mm continuum images. Results: The HH 250-IRS source is resolved into a binary with 0.''53 separation, corresponding to 120 AU at the adopted distance of 225 pc. The individual components show heavily veiled spectra with weak CO absorption indicative of late-type stars. Both are Class I sources, but their spectral energy distributions between 1.5 μm and 19 μm differ markedly and suggest the existence of a large cavity around one of the components. The millimeter interferometric observations indicate that the gas mainly traces a circumbinary envelope or disk, while the dust emission is dominated by one of the circumstellar envelopes. Conclusions: HH 250-IRS is a new addition to the handful of multiple systems where the individual stellar components, the circumstellar disks and a circumbinary disk can be studied in detail, and a rare case among those systems in which a Herbig-Haro flow is present. Based on observations obtained with the VLT (Cerro Paranal, Chile) in programs 089.C-0196(A), 095.C-0488(A), and 095.C-0488(B), as well as with IRTF (Mauna Kea, Hawaii), SMA (Mauna Kea, Hawaii), and the Nordic Optical Telescope (La Palma, Canary Islands, Spain

  1. The electronic structure and bonding of a H-H pair in the vicinity of a BCC Fe bulk vacancy

    Energy Technology Data Exchange (ETDEWEB)

    Juan, A.; Pistonesi, C.; Brizuela, G. [Universidad Nacional del Sur, Bahia Blanca (Argentina). Departamento de Fisica; Garcia, A.J. [Universidad Nacional del Sur, Bahia Blanca (Argentina). Departamento de Ciencias de la Computacion

    2003-09-01

    The H-Fe interaction near a bcc Fe vacancy is analysed using a semi-empirical theoretical method. Calculations were performed using a Fe{sub 86} cluster with a vacancy. Hydrogen atoms are positioned in their local energy minima configurations. Changes in the electronic structure of Fe atoms near a vacancy were analysed for the system without H, with one H and with two H atoms. Fe atoms surrounding the vacancy weaken their bond when hydrogen is present. This is due to the formation of H-Fe bonds. Hydrogen influences only its nearest-neighbour Fe atoms. The H-H interaction was also analysed. For H-H distance of 0.82 Angstrom an H-H association is formed, while H-Fe interaction and Fe-Fe weakening is markedly reduced, when compared with other H-H interactions. (author)

  2. A study of the Herbig-Haro object HH 120 and the associated cometary globule CG 30

    International Nuclear Information System (INIS)

    Pettersson, B.

    1984-01-01

    Infrared and spectroscopic observations are presented of a new Herbig-Haro object, here named HH 120, in the cometary globule CG 30. The emission line spectrum indicates a very low degree of excitation of the same order as that found for HH 47, HH 7, and HH 11. From several spectra a radial velocity of -42 km -1 +-12 km s -1 is deduced and the electron temperature, Tsub(e), and electron number density, Nsub(e), are found to be 9100 K+-400 K and 1700 cm -3 +-600 cm -3 , respectively. A prominent continuum is shown to be composed of a collisionally enhanced two-photon continuum and a reflected late-type stellar component, probably originating in the hidden source of energy. Infrared scans of CG 30 revealed five sources, two of which are very close to HH 120. It is argued that one of them, CG 30-IRS4, is the source of energy producing HH 120 and an associated reflection nebula. The bolometric luminosity of CG 30-IRS4 is estimated to be at least 0.9 Lsub(sun), its mass 1.1 Msub(sun) and its radius 1.6 Rsub(sun). (orig.)

  3. 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.

  4. 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).

  5. Radiation Load Optimization in the Final Focus System of FCC-hh

    CERN Document Server

    Martin, Roman; Cerutti, Francesco; Tomás, Rogelio

    2016-01-01

    With a center-of-mass energy of up to 100 TeV, FCC-hh will produce highly energetic collision debris at the Interaction Point (IP). Protecting the final focus quadrupoles from this radiation is challenging, since the required amount of shielding placed inside the magnets will reduce the free aperture, thereby limiting the β^{*} reach and luminosity. Hence, radiation mitigation strategies that make best use of the available aperture are required. In this paper, we study the possibility to split the first quadrupole Q1 into two quadrupoles with individual apertures, in order to distribute the radiation load more evenly and reduce the peak dose.

  6. High velocity molecular gas near Herbig-Haro objects HH 7--11

    International Nuclear Information System (INIS)

    Snell, R.L.; Edwards, S.

    1981-01-01

    Observations of the J = 2-1 and J = 1-0 transitions of 12 CO and 13 CO reveal the presence of high velocity molecular gas associated with a low luminosity infrared source in the vicinity of the Herbig-Haro objects HH 7--11. The blueshifted and redshifted wings show peak intensities spatially separated by 1X5 (0.2 pc), suggesting an energetic bipolar outflow of gas from a young low mass star. The mass loss rate implied by these observations is 8 x 10 -6 M/sub sun/ yr -1

  7. 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

    model to study the possibility of recovering from HGPS bone disease upon silencing of the HGPS mutation, and the potential benefits from treatment with resveratrol. We show that complete silencing of the transgenic expression of progerin normalized bone morphology and mineralization already after 7...... weeks. The improvements included lower frequencies of rib fractures and callus formation, an increased number of osteocytes in remodeled bone, and normalized dentinogenesis. The beneficial effects from resveratrol treatment were less significant and to a large extent similar to mice treated with sucrose...... alone. However, the reversal of the dental phenotype of overgrown and laterally displaced lower incisors in HGPS mice could be attributed to resveratrol. Our results indicate that the HGPS bone defects were reversible upon suppressed transgenic expression and suggest that treatments targeting aberrant...

  8. Physics and life-business: Participation of IFIN-HH in ConvEX-3 Exercise

    International Nuclear Information System (INIS)

    Vamanu, D.; Slavnicu, D.; Gheorghiu, Dorina; Acasandrei, V.; Vamanu, B.

    2005-01-01

    The paper illustrates a less popular yet by no means less consequential task within IFIN-HH's public mission, namely - to provide scientific advice and technical support in the management of nuclear accidents and radiological emergencies. The case in point is ConvEX-3, a 36-hour, 41-actor-countries international alert exercise conducted, May 2005, by the International Atomic Energy Agency in Vienna and targeting a virtual accident at Cernavoda Nuclear Power Plant, Romania. A comprehensive Technical Report compiled in the aftermath of the exercise covers the results, as well as the ways and means at work, highlighting the productive complementarities of the two chief tools employed as assessment and decision support: RODOS (Real Time On-line Decision Support) - a 'major league' expert system based on fixed workstations, in development under an EC project and vying for a position of comprehensive, reference European tool 160 in nuclear emergency crises - for which IFIN-HH is the sole licensed operator in Romania; and RAT (Radiological Assessment Toolkit), a 'minor league' domestic counterpart operating at PC level, assembling a vademecum of, mainly U.S.-originated, reference models dwelling in radioactive inventories, source terms, environmental dispersion, dose and derived response levels, cadastral evaluation of impacts, and countermeasure assessment. (authors)

  9. 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.

  10. 20 years of cosmic muons research performed in IFIN-HH

    Energy Technology Data Exchange (ETDEWEB)

    Mitrica, Bogdan [Horia Hulubei National Institute of Physics and Nuclear Engineering - IFIN HH, Bucharest, P.O.B.MG-6 (Romania)

    2012-11-20

    During the last two decades a modern direction in particle physics research has been developed in IFIN-HH Bucharest, Romania. The history started with the WILLI detector built in IFIN-HH Bucharest in collaboration with KIT Karlsruhe (formerly Forschungszentrum Karlsruhe). The detector was designed for measurements of the low energy muon charge ratio (< 1GeV) based on a delayed coincidence method, measuring the decay time of the muons stopped in the detector: the positive muons decay freely, but the negative muons are captured in the atom thus creating muonic atoms and decay depending on the nature of the host atom. In a first configuration, the WILLI detector was placed in a fixed position for measuring vertical muons. Further WILLI has been transformed in a rotatable device which allows directional measurements of muon charge ratio and muon flux. The results exhibit a pronounced azimuthal asymmetry (East-West effect) due to the different in fluence of the geomagnetic field on the trajectories of positive and negative muons in air. In parallel, flux measurement, taking into account muon events with nergies > 0.4GeV, show a diurnal modulation of the muon flux. The analysis of the muon events for energies < 0.6GeV reveals an aperiodic variation of the muon flux. A new detection system performing coincidence measurements between the WILLI calorimeter and a small array of 12 scintillators plates has been installed in IFIN-HH starting from the autumn of 2010. The aim of the system is to investigate muon charge ratio from individual EAS by using the mini-array as trigger for the WILLI calorimeter. Such experimental studies could provide detailed information on hadronic interaction models and primary cosmic ray composition at energies around 10{sup 15}eV. Simulation studies and preliminary experimental tests, regarding the performances of the mini-array, have been performed using H and Fe primaries, with energies in a range 10{sup 13}eV - 10{sup 15}eV. The results show

  11. A conceptual solution for a beam halo collimation system for the Future Circular hadron-hadron Collider (FCC-hh)

    Science.gov (United States)

    Fiascaris, M.; Bruce, R.; Redaelli, S.

    2018-06-01

    We present the first conceptual solution for a collimation system for the hadron-hadron option of the Future Circular Collider (FCC-hh). The collimation layout is based on the scaling of the present Large Hadron Collider collimation system to the FCC-hh energy and it includes betatron and momentum cleaning, as well as dump protection collimators and collimators in the experimental insertions for protection of the final focus triplet magnets. An aperture model for the FCC-hh is defined and the geometrical acceptance is calculated at injection and collision energy taking into account mechanical and optics imperfections. The performance of the system is then assessed through the analysis of normalized halo distributions and complete loss maps for an ideal lattice. The performance limitations are discussed and a solution to improve the system performance with the addition of dispersion suppression collimators around the betatron cleaning insertion is presented.

  12. Latest developments in the predisposal of radioactive waste at the radioactive waste management department from ifin-hh

    International Nuclear Information System (INIS)

    Dragolici, F.; Dogaru, G.; Neacsu, E.

    2016-01-01

    The Radioactive Waste Management Department (DMDR) from IFIN-HH has a wide experience in the management of the non-fuel cycle radioactive wastes from all over Romania generated from nuclear techniques and technologies application, assuring the radiological safety and security of operators, population and environment. During 2011-2015 was implemented a major upgrading programme applied both on the technological systems of the building and on equipment. The paper describes the facility developments having the scope to share to the public and stakeholders the radioactive waste predisposal capabilities available at DMDR-IFIN-HH. As a whole, today DMDR-IFIN-HH represents a complete and complex infrastructure, assuring high quality services in all the steps related to the management of the institutional radioactive waste in Romania. (authors)

  13. 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.

  14. THE COUNTERJET OF HH 30: NEW LIGHT ON ITS BINARY DRIVING SOURCE

    Energy Technology Data Exchange (ETDEWEB)

    Estalella, Robert; Lopez, Rosario; Riera, Angels [Departament d' Astronomia i Meteorologia, Institut de Ciencies del Cosmos (ICC), Universitat de Barcelona (IEEC-UB), Marti i Franques 1, E-08028 Barcelona (Spain); Anglada, Guillem; Carrasco-Gonzalez, Carlos [Instituto de Astrofisica de Andalucia, CSIC, Glorieta de la Astronomia s/n, E-18008 Granada (Spain); Gomez, Gabriel, E-mail: robert.estalella@am.ub.es, E-mail: rosario.lopez@am.ub.es, E-mail: guillem@iaa.es, E-mail: ggv@iac.es, E-mail: gabriel.gomez@gtc.iac.es, E-mail: angels.riera@upc.edu, E-mail: carrasco@mpifr-bonn.mpg.de [Instituto de Astrofisica de Canarias, E-38200 La Laguna, Tenerife (Spain)

    2012-08-15

    We present new [S II] images of the Herbig-Haro (HH) 30 jet and counterjet observed in 2006, 2007, and 2010 that, combined with previous data, allowed us to measure with improved accuracy the positions and proper motions of the jet and counterjet knots. Our results show that the motion of the knots is essentially ballistic, with the exception of the farthest knots, which trace the large-scale 'C'-shape bending of the jet. The observed bending of the jet can be produced by a relative motion of the HH 30 star with respect to its surrounding environment, caused either by a possible proper motion of the HH 30 star, or by the entrainment of environment gas by the red lobe of the nearby L1551-IRS5 outflow. Alternatively, the bending can be produced by the stellar wind from a nearby classical T Tauri star, identified in the Two Micron All Sky Survey catalog as J04314418+181047. The proper motion velocities of the knots of the counterjet show more variations than those of the jet. In particular, we identify two knots of the counterjet that have the same kinematic age but whose velocities differ by almost a factor of two. Thus, it appears from our observations that counterjet knots launched simultaneously can be ejected with very different velocities. We confirm that the observed wiggling of the jet and counterjet arises from the orbital motion of the jet source in a binary system. Precession, if present at all, is of secondary importance in shaping the jet. We derive an orbital period of {tau}{sub o} = 114 {+-} 2 yr and a mass function of m{mu}{sup 3}{sub c} = 0.014 {+-} 0.006 M{sub Sun }. For a mass of the system of m = 0.45 {+-} 0.04 M{sub Sun} (the value inferred from observations of the CO kinematics of the disk), we obtain a mass of m{sub j} = 0.31 {+-} 0.04 M{sub Sun} for the jet source, a mass of m{sub c} = 0.14 {+-} 0.03 M{sub Sun} for the companion, and a binary separation of a = 18.0 {+-} 0.6 AU. This binary separation coincides with the value required

  15. A new AMS facility based on a Cockcroft-Walton type 1 MV tandetron at IFIN-HH Magurele, Romania

    Science.gov (United States)

    Stan-Sion, C.; Enachescu, M.; Ghita, D. G.; Calinescu, C. I.; Petre, A.; Mosu, D. V.; Klein, M.

    2014-01-01

    A 1 MV AMS machine was recently installed in the National Institute for Physics and Nuclear Engineering IFIN-HH, Bucharest Romania. It is the second AMS facility at IFIN-HH having the goal not only to continue but mainly to enlarge the research area of this highly sensitive analyzing method. The multi-element AMS was developed by HVEE to measure 14C, 10Be, and 26Al, and 129I. The results of an acceptance test are presented and demonstrate that this machine is capable of routine 14C age dating and of measurements of other radioisotopes in terms of accuracy and precision as well as a low background level.

  16. Model for collimated outflows in molecular clouds and the case of HH 7-11

    Energy Technology Data Exchange (ETDEWEB)

    Silvestro, G; Ferrari, A; Rosner, R; Trussoni, E; Tsinganos, K

    1987-01-15

    Modelling is carried out for collimated outflows of high-velocity gas in molecular clouds, which is often observed to be associated with linear chains of optical emission knots. A wind-flow model is proposed to account for the phenomenon, based on the structural similarities between the outflows and jets from active galactic nuclei and quasars. The chain of Herbig-Haro objects HH7-11 is used to illustrate the proposal. The model is based on flows in a channel of variable cross-sectional area due to Kelvin-Helmholtz instabilities between the flow and the ambient medium. Solutions of the Mach number equation for such a channel are presented, which possess multiple critical points and shocks identified with observed optical knots. (U.K.).

  17. 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.

  18. 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.

  19. ATLAS searches for VH, HH, VV, V+$\\gamma$/$\\gamma\\gamma$ resonances

    CERN Document Server

    AUTHOR|(INSPIRE)INSPIRE-00441490; 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 high Higgs boson transverse momentum. The most recent diboson resonance searches using LHC Run 2 data are described.

  20. Betatron-collimation Studies for Heavy Ions in the FCC-hh

    CERN Multimedia

    Logothetis Agaliotis, Efstathios

    2018-01-01

    One of the biggest challenges in the design of the FCC-hh is the collimation system. From LHC experience it is known that a collimation system optimized for proton cleaning has a significantly reduced efficiency for heavy ions. The study presented in this contribution evaluates the betatron-collimation efficiency for the heavy-ion operation with lead nuclei at a beam energy of 50 Z TeV in the system designed for proton operation. The fragmentation processes of the main beam particles in the primary collimator are simulated with FLUKA and fragments are individually tracked with SixTrack until being lost in the downstream aperture. In this way a first-impact loss-map is obtained, identifying locations where high energy deposition are to be expected. This provides a first-level assessment of feasibility and allows to include countermeasures in the conceptual accelerator design.

  1. 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 was concerned with teachers' perceptions of the model in general and with the model's advantages, disadvantages, and effectiveness. Data collected from observations, one-to-one interviews, and a focus group interview enabled the investigator to uncover 4 themes: Participants (a) had an overall positive experience, (b) viewed general education immersion as an advantage, (c) considered high noise levels a disadvantage, and (d) believed the effectiveness of the push-in model was dependent on several factors, in particular, the needs of the student and the nature of the general education classroom environment.

  2. 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).

  3. Spitzer spectral line mapping of the HH211 outflow

    DEFF Research Database (Denmark)

    Dionatos, Odyssefs; Nisini, Brunella; Cabrit, Sylvie

    2010-01-01

    of emission line diagnostics and an existing grid of molecular shock models. The physical properties of the warm gas are compared against other molecular jet tracers and to the results of a similar study towards the L1448-C outflow. Results: We have detected and mapped the v=0-0 S(0) - S(7) H2 lines and fine...... compared to solar abundances by a factor ~10-50. Conclusions: Spitzer spectral mapping observations reveal for the first time a cool H$_2$ component towards the CO jet of HH211 consistent with the CO material being fully molecular and warm at ~ 300 K. The maps also reveal for the first time the existence...... uncertainties on jet speed and shock conditions are too large for a definite conclusion....

  4. 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.

  5. Improved bow shock models for Herbig-Haro objects - application to HH 2A-prime

    International Nuclear Information System (INIS)

    Raymond, J.C.; Hartmann, L.; Hartigan, P.

    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. 32 references

  6. Performance assessment of the SIMFAP parallel cluster at IFIN-HH Bucharest

    International Nuclear Information System (INIS)

    Adam, Gh.; Adam, S.; Ayriyan, A.; Dushanov, E.; Hayryan, E.; Korenkov, V.; Lutsenko, A.; Mitsyn, V.; Sapozhnikova, T.; Sapozhnikov, A; Streltsova, O.; Buzatu, F.; Dulea, M.; Vasile, I.; Sima, A.; Visan, C.; Busa, J.; Pokorny, I.

    2008-01-01

    Performance assessment and case study outputs of the parallel SIMFAP cluster at IFIN-HH Bucharest point to its effective and reliable operation. A comparison with results on the supercomputing system in LIT-JINR Dubna adds insight on resource allocation for problem solving by parallel computing. The solution of models asking for very large numbers of knots in the discretization mesh needs the migration to high performance computing based on parallel cluster architectures. The acquisition of ready-to-use parallel computing facilities being beyond limited budgetary resources, the solution at IFIN-HH was to buy the hardware and the inter-processor network, and to implement by own efforts the open software concerning both the operating system and the parallel computing standard. The present paper provides a report demonstrating the successful solution of these tasks. The implementation of the well-known HPL (High Performance LINPACK) Benchmark points to the effective and reliable operation of the cluster. The comparison of HPL outputs obtained on parallel clusters of different magnitudes shows that there is an optimum range of the order N of the linear algebraic system over which a given parallel cluster provides optimum parallel solutions. For the SIMFAP cluster, this range can be inferred to correspond to about 1 to 2 x 10 4 linear algebraic equations. For an algorithm of polynomial complexity N α the task sharing among p processors within a parallel solution mainly follows an (N/p)α behaviour under peak performance achievement. Thus, while the problem complexity remains the same, a substantial decrease of the coefficient of the leading order of the polynomial complexity is achieved. (authors)

  7. Diagnostic value of progesterone receptor, p16, p53 and pHH3 expression in uterine atypical leiomyoma.

    Science.gov (United States)

    Liang, Yun; Zhang, Xiaofei; Chen, Xiaoduan; Lü, Weiguo

    2015-01-01

    The differential diagnosis between atypical leiomyoma and leiomyosarcoma may be hard based on morphological criterion at times. It would be helpful to find out biomarkers that can be used to distinguish them. The aim of the study was to investigate the diagnostic value of progesterone receptor (PR), p16, p53 and pHH3 expression in a series of uterine smooth muscle tumors. Immunohistochemical expression of PR, p16, p53 and pHH3 was investigated on 32 atypical leiomyomas, 15 leiomyosarcomas and 15 usual leomyomas. The difference in expression was compared between atypical leiomyoma and other groups. The expression of PR, p16, and pHH3 was found significantly different between atypical leiomyomas and leiomyosarcomas, but lack of significant difference between atypical leiomyomas and usual leiomyomas. There was no significant difference with regard to p53 distribution among these uterine smooth muscle tumors. High p16, pHH3 expression and low PR expression preferred the diagnosis of leiomyosarcoma. The panel of antibodies used in this study is a useful complementary analysis in the assessment of problematic uterine smooth muscle tumors.

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

    Directory of Open Access Journals (Sweden)

    Matteo Pappalardo

    Full Text Available 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

  9. 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

  10. 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.

  11. 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.

  12. 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

  13. 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

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

    International Nuclear Information System (INIS)

    Rodríguez-González, A.; Esquivel, A.; Raga, A. C.; Cantó, J.; Curiel, S.; Riera, A.; Beck, T. L.

    2012-01-01

    We present an analysis of Hα 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.

  15. Design and performance of an electromagnetic calorimeter for a FCC-hh experiment

    Science.gov (United States)

    Zaborowska, A.

    2018-03-01

    The physics reach and feasibility of the Future Circular Collider are currently under investigation. The goal is to collide protons with centre-of-mass energies up to 100 TeV, extending the research carried out at the current HEP facilities. The detectors designed for the FCC experiments need to tackle harsh conditions of the unprecedented collision energy and luminosity. The baseline technology for the calorimeter system of the FCC-hh detector is described. The electromagnetic calorimeter in the barrel, as well as the electromagnetic and hadronic calorimeters in the endcaps and the forward regions, are based on the liquid argon as active material. The detector layout in the barrel region combines the concept of a high granularity calorimeter with precise energy measurements. The calorimeters have to meet the requirements of high radiation hardness and must be able to deal with a very high number of collisions per bunch crossings (pile-up). A very good energy and angular resolution for a wide range of electrons' and photons' momentum is needed in order to meet the demands based on the physics benchmarks. First results of the performance studies with the new liquid argon calorimeter are presented, meeting the energy resolution goal.

  16. Vibrational inelastic and charge transfer processes in H++H2 system: An ab initio study

    Science.gov (United States)

    Amaran, Saieswari; Kumar, Sanjay

    2007-12-01

    State-resolved differential cross sections, total and integral cross sections, average vibrational energy transfer, and the relative probabilities are computed for the H++H2 system using the newly obtained ab initio potential energy surfaces at the full CI/cc-pVQZ level of accuracy which allow for both the direct vibrational inelastic and the charge transfer processes. The quantum dynamics is treated within the vibrational close-coupling infinite-order-sudden approximation approach using the two ab initio quasidiabatic potential energy surfaces. The computed collision attributes for both the processes are compared with the available state-to-state scattering experiments at Ec.m.=20eV. The results are in overall good agreement with most of the observed scattering features such as rainbow positions, integral cross sections, and relative vibrational energy transfers. A comparison with the earlier theoretical study carried out on the semiempirical surfaces (diatomics in molecules) is also made to illustrate the reliability of the potential energy surfaces used in the present work.

  17. 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.

  18. A new ion beam facility based on a 3 MV Tandetron™ at IFIN-HH, Romania

    Science.gov (United States)

    Burducea, I.; Straticiuc, M.; Ghiță, D. G.; Moșu, D. V.; Călinescu, C. I.; Podaru, N. C.; Mous, D. J. W.; Ursu, I.; Zamfir, N. V.

    2015-09-01

    A 3 MV Tandetron™ accelerator system has been installed and commissioned at the "Horia Hulubei" National Institute for Physics and Nuclear Engineering - IFIN-HH, Măgurele, Romania. The main purpose of this machine is to strengthen applied nuclear physics research ongoing in our institute for more than four decades. The accelerator system was developed by High Voltage Engineering Europa B.V. (HVE) and comprises three high energy beam lines. The first beam line is dedicated to ion beam analysis (IBA) techniques: Rutherford Backscattering Spectrometry - RBS, Nuclear Reaction Analysis - NRA, Particle Induced X-ray and γ-ray Emission - PIXE and PIGE and micro-beam experiments - μ-PIXE. The second beam line is dedicated to high energy ion implantation experiments and the third beam line was designed mainly for nuclear cross-sections measurements used in nuclear astrophysics. A unique feature, the first time in operation at an accelerator facility is the Na charge exchange canal (CEC), which is used to obtain high intensity beams of He- of at least 3 μA. The results of the acceptance tests demonstrate the huge potential of this new facility in various fields, from IBA to radiation hardness studies and from medical or environmental applications to astrophysics. The main features of the accelerator are presented in this paper.

  19. Speciation in the aqueous H+/H2VO4-/H2O2/citrate system of biomedical interest.

    Science.gov (United States)

    Gorzsás, András; Getty, Kendra; Andersson, Ingegärd; Pettersson, Lage

    2004-09-21

    The speciation in the quaternary aqueous H+/H2VO4-/H2O2/citrate (Cit3-) and H+/H2VO4-/Cit3-/L-(+)-lactate (Lac-) systems has been determined at 25 degrees C in the physiological medium of 0.150 M Na(Cl). A combination of 51V NMR integral intensities and chemical shift (Bruker AMX500) as well as potentiometric data (glass electrode) have been collected and evaluated with the computer program LAKE, which is able to treat multimethod data simultaneously. The pKa-values for citric acid have been determined as 2.94, 4.34 and 5.61. Altogether six vanadate-citrate species have been found in the ternary H+/H2VO4-/Cit3- system in the pH region 2-10, only two of which are mononuclear. Reduction of vanadium(V) becomes more pronounced at pH acidic solutions limited the final model to pH > 4. In the quaternary H+/H2VO4-/Cit3-/Lac- system, two mixed-ligand species have been determined, with the compositions V2CitLac2- and V2CitLac3- (pKa = 5.0). To our knowledge, this is the first time such complexes have been reported for vanadium(V). 51V NMR chemical shifts, compositions and formation constants are given, and equilibrium conditions are illustrated in distribution diagrams as well as the fit of the model to the experimental data. When suitable, structural proposals are given, based on 13C NMR measurements and available literature data of related compounds.

  20. Structure-guided mutational analysis of the OB, HhH, and BRCT domains of Escherichia coli DNA ligase.

    Science.gov (United States)

    Wang, Li Kai; Nair, Pravin A; Shuman, Stewart

    2008-08-22

    NAD(+)-dependent DNA ligases (LigAs) are ubiquitous in bacteria and essential for growth. LigA enzymes have a modular structure in which a central catalytic core composed of nucleotidyltransferase and oligonucleotide-binding (OB) domains is linked via a tetracysteine zinc finger to distal helix-hairpin-helix (HhH) and BRCT (BRCA1-like C-terminal) domains. The OB and HhH domains contribute prominently to the protein clamp formed by LigA around nicked duplex DNA. Here we conducted a structure-function analysis of the OB and HhH domains of Escherichia coli LigA by alanine scanning and conservative substitutions, entailing 43 mutations at 22 amino acids. We thereby identified essential functional groups in the OB domain that engage the DNA phosphodiester backbone flanking the nick (Arg(333)); penetrate the minor grove and distort the nick (Val(383) and Ile(384)); or stabilize the OB fold (Arg(379)). The essential constituents of the HhH domain include: four glycines (Gly(455), Gly(489), Gly(521), Gly(553)), which bind the phosphate backbone across the minor groove at the outer margins of the LigA-DNA interface; Arg(487), which penetrates the minor groove at the outer margin on the 3 (R)-OH side of the nick; and Arg(446), which promotes protein clamp formation via contacts to the nucleotidyltransferase domain. We find that the BRCT domain is required in its entirety for effective nick sealing and AMP-dependent supercoil relaxation.

  1. INTERFEROMETRIC OBSERVATIONS OF NITROGEN-BEARING MOLECULAR SPECIES IN THE STAR-FORMING CORE AHEAD OF HH 80N

    Energy Technology Data Exchange (ETDEWEB)

    Masqué, Josep M.; Estalella, Robert [Departament d' Astronomia i Meteorologia, Universitat de Barcelona, Martí i Franquès 1, E-08028 Barcelona, Catalunya (Spain); Girart, Josep M. [Institut de Ciències de l' Espai (CSIC-IEEC), Campus UAB, Facultat de Ciències, Torre C5 - parell 2, E-08193 Bellaterra, Catalunya (Spain); Anglada, Guillem; Osorio, Mayra [Instituto de Astrofísica de Andalucía, CSIC, Camino Bajo de Huétor 50, E-18008 Granada (Spain); Beltrán, Maria T. [INAF-Osservatorio Astrofisico di Arcetri, Largo E. Fermi 5, I-50125 Firenze (Italy)

    2013-10-10

    We present Very Large Array NH{sub 3} and Plateau de Bure Interferometer NH{sub 2}D and HN{sup 13}C observations of the star-forming core ahead of HH 80N, the optically obscured northern counterpart of the Herbig-Haro objects HH 80/81. The main goal is to determine the kinematical information of the high density regions of the core (n ∼> 10{sup 5} cm{sup –3}) missed in previous works due to the depletion of the species observed (e.g., CS). The obtained maps show different kinematical signatures between the eastern and western parts of the core, suggesting a possible dynamical interaction of the core with the HH 80/81/80N outflow. The analysis of the position-velocity (P-V) plots of these species rules out a previous interpretation of having a molecular ring-like structure with a radius of 6 × 10{sup 4} AU traced by CS infalling onto a central protostar found in the core (IRS1). A high degree of NH{sub 3} deuteration, with respect to the central part of the core harboring IRS1, is derived in the eastern part, where a dust condensation (SE) is located. This deuteration trend of NH{sub 3} suggests that SE is in a pre-stellar evolutionary stage, earlier than that of IRS1. Since SE is the closest condensation to the HH 80N/81/80N outflow, in a case of outflow-core dynamical interaction, it should be perturbed first and be the most evolved condensation in the core. Therefore, the derived evolutionary sequence for SE and IRS1 makes outflow triggered star formation on IRS1 unlikely.

  2. Design of an Automated System for Synthesis of [18 F] FDG for PET Investigation at IFIN-HH Bucharest

    International Nuclear Information System (INIS)

    Craciun, Liviu Stefan; Cimpeanu, Catalina; Constantinescu, Olimpiu; Dudu, Dorin; Ionescu, Cristina; Negoita, Nicolae; Racolta, Petru Mihai; Rusen, Ion

    2009-01-01

    A novel apparatus constructed at IFIN-HH is described for automated synthesis of radiopharmaceuticals labeled with 18 F for use in positron emission tomography (PET) investigations. [18 F] fluoride was produced at the IFIN-HH cyclotron by irradiation of H 2 O enriched 97% in 18 O with 13 MeV deuterons, or 8 MeV protons. The irradiated H 2 O was transferred (injected) into the radiochemical fully-automated processing systems which ensured the separation of 18 F from H 2 O, the labeling with 18 F, and finally purified by filtration with selective absorbants. The system is easy to operate and contains a programmable logical controller that manages the entire operation program stored in its internal memory. The computer is used to assist the operator during the different steps of synthesis and to allow visualization of the process and printing the report. The device was used for used for the production of 2-[18 F] FLUORO-2-DEOXY-D-GLUCOSE at the IFIN-HH cyclotron, one of the most used radiopharmaceutical in PET investigations. The synthesis module is configured so that is flexible enough to accomplish other nucleophile reactions of labeling with short lived radioisotopes.

  3. Design of an Automated System for Synthesis of [18 F] FDG for PET Investigation at IFIN-HH Bucharest

    Science.gov (United States)

    Craciun, Liviu Stefan; Cimpeanu, Catalina; Constantinescu, Olimpiu; Dudu, Dorin; Ionescu, Cristina; Negoita, Nicolae; Racolta, Petru Mihai; Rusen, Ion

    2009-03-01

    A novel apparatus constructed at IFIN-HH is described for automated synthesis of radiopharmaceuticals labeled with 18F for use in positron emission tomography (PET) investigations. [18 F] fluoride was produced at the IFIN-HH cyclotron by irradiation of H2O enriched 97% in 18O with 13 MeV deuterons, or 8 MeV protons. The irradiated H2O was transferred (injected) into the radiochemical fully-automated processing systems which ensured the separation of 18F from H2O, the labeling with 18F, and finally purified by filtration with selective absorbants. The system is easy to operate and contains a programmable logical controller that manages the entire operation program stored in its internal memory. The computer is used to assist the operator during the different steps of synthesis and to allow visualization of the process and printing the report. The device was used for used for the production of 2-[18 F] FLUORO-2-DEOXY-D-GLUCOSE at the IFIN-HH cyclotron, one of the most used radiopharmaceutical in PET investigations. The synthesis module is configured so that is flexible enough to accomplish other nucleophile reactions of labeling with short lived radioisotopes.

  4. 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.

  5. A dedicated beam line for Rutherford backscattering analysis at IFIN-HH cyclotron

    International Nuclear Information System (INIS)

    Ivanov, E. A.; Dudu, D.; Plostinaru, D.; Catana, D.; Vata, I.

    2003-01-01

    Rutherford back-scattering technique (RBS) is an analytical tool that uses elastic scattering of 1-5 MeV charged particles for analysis of the surface and the outer few micrometers of solids. IFIN-HH RBS system consists of the U-120 Cyclotron, a dedicated beam line and a scattering chamber with sample manipulators and particle detectors. In our RBS system the samples are bombarded with 2-5 alpha particles accelerated by U-120 Cyclotron (in 3-rd subharmonic regime) while the scattered particles are detected by a surface barrier detector. The signal from the detector is processed by common nuclear electronics and the particle energy spectra are stored in a computer based multichannel analyser. The data evaluation is accomplished using standard procedures and computer codes. The necessary vacuum inside chamber is obtained with an oil-free turbo pump. The beam spot dimension on the target is 1x1 mm. The standard measurement are done at Θ = 165 angle. The samples are electrically insulated and can be rotated around a vertical axis. The advantage of the RBS technique lies in the quantitative analysis of major and minor constituents lying in the first 0.5 to 2.0 micrometers of a material. Depending on the sample structure and composition, the detection limits vary from 10 11 to 10 15 at. cm -2 for heavy and light elements, respectively. The depth distribution of constituents can be reconstructed with a depth resolution of 10-20 nm. The RBS technique is non-destructive since the erosion and the radiation degradation of the sample material by the particle impact is negligible. The most extensive use of the RBS technique is in the field of electronic and optical materials, special coatings and in the study of various physico-chemical processes on the solid surfaces. (authors)

  6. Status and Perspectives for a Slow Positron Beam Facility at the HH-NIPNE Bucharest

    Science.gov (United States)

    Straticiuc, Mihai; Craciun, Liviu Stefan; Constantinescu, Olimpiu; Ghita, Ionica Alina; Ionescu, Cristina; Racolta, Petru Mihai; Vasilescu, Angela; Braic, Viorel; Zoita, Catalin; Kiss, Adrian; Bojin, Dionezie

    2009-03-01

    The development of a positron annihilation spectroscopy laboratory at the HH-NIPNE Bucharest-to be used for material studies and applications was started in the last 10 years. In the framework of a national research project extended over the last 3 years, was designed a low energy positron accelerator, as a high-vacuum dedicated beam line with two options: a 25 mCi 22NaCl source and in line with the NIPNE-cyclotron or a new intense compact cyclotron. The construction of the beam line was planned as a sequence of modules: source- moderator system; magnetical filter for fast positrons in order to select the positrons energies in the range 0.8-1 keV; a modular system for focusing, transport and acceleration of monoenergetic positrons in the energy range 0.8-50 keV and a CDBS analysis chamber. The moderator proposed-is tungsten as a foil of about 3 μm prepared at the Optoelectronics Institute were put into a thermal treatment vacuum chamber and bombarded with electrons from a 100 W electron gun After the treatment, they were tested for changes of elemental composition of the surface and structure at the Polytechnic University. The structure tests were performed on a DRON 3 M diffractometer, with a Co tube (λKα = 1.7903 A)-the angular regions studied were around 34° (1 0 0) and 69° (2 0 0). In the present time, the trajectories of the positron are going to be simulated with dedicated software (an ion and electron optics simulator). For the coincidence measurements (CDBS) set-up we used a home-made 22NaCl source, by separation without carrier from a metallic Mg target irradiated with 12 MeV protons and separated by columnar cation exchange. A home- made biparametric system for CDBS measurements will be reported, also.

  7. Reproduction, Smell and Neurodevelopmental disorders: Genetic defects in different hypogonadotropic hypogonadal syndromes.

    Directory of Open Access Journals (Sweden)

    Hernan G VALDES-SOCIN

    2014-07-01

    Full Text Available The neuroendocrine control of reproduction in mammals is governed by a neural hypothalamic network of nearly 1500 gonadotropin-releasing hormone (GnRH secreting neurons that modulate the activity of the reproductive axis across life. Congenital hypogonadotropic hypogonadism (HH is a clinical syndrome that is characterized by partial or complete pubertal failure. HH may result from inadequate hypothalamic GnRH axis activation, or a failure of pituitary gonadotropin secretion/effects. In man, several genes that participate in olfactory and GnRH neuronal migration are thought to interact during the embryonic life. A growing number of mutations in different genes are responsible for congenital HH. Based on the presence or absence of olfaction dysfunction, HH is divided in two syndromes: HH with olfactory alterations (Kallmann syndrome and idiopathic hypogonadotropic hypogonadism (IHH with normal smell (normosmic IHH. Kallmann syndrome (KS is a heterogeneous disorder affecting 1 in 5000 males, with a 3-5 fold of males over females. KS is associated with mutations in KAL1, FGFR1/FGF8, FGF17, IL17RD, PROK2/PROKR2, NELF, CHD7, HS6ST1, FLRT3, SPRY4, DUSP6, SEMA3A, NELF and WDR11 genes that are related to defects in neuronal migration. These reproductive and olfactory deficits include a variable non reproductive phenotype, including sensorineural deafness, coloboma, bimanual synkinesis, craniofacial abnormalities and/or renal agenesis. Interestingly, defects in PROKR2, FGFR1, FGF8, CHD7, DUSP6, and WDR11 genes are also associated with normosmic IHH, whereas mutations in KISS1/KISSR, TAC3/TACR3, GNRH1/GNRHR, LEP/LEPR, HESX1, FSHB and LHB are only present in patients with normosmic IHH. In this paper, we summarize the reproductive, neurodevelopmental and genetic aspects of HH in human pathology.

  8. Adapting National Water Model Forecast Data to Local Hyper-Resolution H&H Models During Hurricane Irma

    Science.gov (United States)

    Singhofen, P.

    2017-12-01

    The National Water Model (NWM) is a remarkable undertaking. The foundation of the NWM is a 1 square kilometer grid which is used for near real-time modeling and flood forecasting of most rivers and streams in the contiguous United States. However, the NWM falls short in highly urbanized areas with complex drainage infrastructure. To overcome these shortcomings, the presenter proposes to leverage existing local hyper-resolution H&H models and adapt the NWM forcing data to them. Gridded near real-time rainfall, short range forecasts (18-hour) and medium range forecasts (10-day) during Hurricane Irma are applied to numerous detailed H&H models in highly urbanized areas of the State of Florida. Coastal and inland models are evaluated. Comparisons of near real-time rainfall data are made with observed gaged data and the ability to predict flooding in advance based on forecast data is evaluated. Preliminary findings indicate that the near real-time rainfall data is consistently and significantly lower than observed data. The forecast data is more promising. For example, the medium range forecast data provides 2 - 3 days advanced notice of peak flood conditions to a reasonable level of accuracy in most cases relative to both timing and magnitude. Short range forecast data provides about 12 - 14 hours advanced notice. Since these are hyper-resolution models, flood forecasts can be made at the street level, providing emergency response teams with valuable information for coordinating and dispatching limited resources.

  9. 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 ...

  10. 4D display of the outflow track of embryonic-chick hearts (HH 14-19) using a high speed streak mode OCT

    Science.gov (United States)

    Ma, Siyu; Wang, Rui; Goodwin, Richard L.; Markwald, Roger R.; Borg, Thomas K.; Runyan, Raymond B.; Gao, Zhi

    2013-02-01

    Congenital Heart Disease (CHD) is the most common congenital malformation in newborns in the US. Although knowledge of CHD is limited, altered hemodynamic conditions are suspected as the factor that stimulates cardiovascular cell response, resulting in the heart morphology remodeling that ultimately causes CHDs. Therefore, one of recent efforts in CHD study is to develop high-speed imaging tools to correlate the rapidly changing hemodynamic condition and the morphological adaptations of an embryonic heart in vivo. We have developed a high-speed streak mode OCT that works at the center wavelength of 830 nm and is capable of providing images (292x220 μm2) of the outflow tract of an embryonic chick heart at the rate of 1000 Hz. The modality can provide a voxel resolution in the range of 10 μm3, and the spectral resolution allows a depth range of 1.63 mm. In the study reported here, each of the 4D images of an outflow tract was recorded for 2 seconds. The recording was conducted every 2 hours (HH17 to HH18), 3 hours (HH14 to HH17), and 4 hours (HH18 to HH19). Because of the fast scan speed, there is no need for postacquisition processing such as use of gating techniques to provide a fine 3D structure. In addition, more details of the outflow tract are preserved in the recorded images. The 4D images can be used in the future to determine the role of blood flow in CHD development.

  11. Loss of Function Mutation in the Palmitoyl-Transferase HHAT Leads to Syndromic 46,XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling

    Science.gov (United States)

    Makrythanasis, Periklis; Bernard, Pascal; Kurosaka, Hiroshi; Vannier, Anne; Thauvin-Robinet, Christel; Borel, Christelle; Mazaud-Guittot, Séverine; Rolland, Antoine; Desdoits-Lethimonier, Christèle; Guipponi, Michel; Zimmermann, Céline; Stévant, Isabelle; Kuhne, Françoise; Conne, Béatrice; Santoni, Federico; Lambert, Sandy; Huet, Frederic; Mugneret, Francine; Jaruzelska, Jadwiga; Faivre, Laurence; Wilhelm, Dagmar; Jégou, Bernard; Trainor, Paul A.; Resh, Marilyn D.; Antonarakis, Stylianos E.; Nef, Serge

    2014-01-01

    The Hedgehog (Hh) family of secreted proteins act as morphogens to control embryonic patterning and development in a variety of organ systems. Post-translational covalent attachment of cholesterol and palmitate to Hh proteins are critical for multimerization and long range signaling potency. However, the biological impact of lipid modifications on Hh ligand distribution and signal reception in humans remains unclear. In the present study, we report a unique case of autosomal recessive syndromic 46,XY Disorder of Sex Development (DSD) with testicular dysgenesis and chondrodysplasia resulting from a homozygous G287V missense mutation in the hedgehog acyl-transferase (HHAT) gene. This mutation occurred in the conserved membrane bound O-acyltransferase (MBOAT) domain and experimentally disrupted the ability of HHAT to palmitoylate Hh proteins such as DHH and SHH. Consistent with the patient phenotype, HHAT was found to be expressed in the somatic cells of both XX and XY gonads at the time of sex determination, and Hhat loss of function in mice recapitulates most of the testicular, skeletal, neuronal and growth defects observed in humans. In the developing testis, HHAT is not required for Sertoli cell commitment but plays a role in proper testis cord formation and the differentiation of fetal Leydig cells. Altogether, these results shed new light on the mechanisms of action of Hh proteins. Furthermore, they provide the first clinical evidence of the essential role played by lipid modification of Hh proteins in human testicular organogenesis and embryonic development. PMID:24784881

  12. Search for lepton-flavor and lepton-number-violating τ→ℓhh{sup ′} decay modes

    Energy Technology Data Exchange (ETDEWEB)

    Miyazaki, Y. [Graduate School of Science, Nagoya University, Nagoya (Japan); Hayasaka, K., E-mail: hayasaka@hepl.phys.nagoya-u.ac.jp [Kobayashi-Maskawa Institute, Nagoya University, Nagoya (Japan); Adachi, I. [High Energy Accelerator Research Organization (KEK), Tsukuba (Japan); Aihara, H. [Department of Physics, University of Tokyo, Tokyo (Japan); Asner, D.M. [Pacific Northwest National Laboratory, Richland, WA (United States); Aulchenko, V. [Budker Institute of Nuclear Physics SB RAS and Novosibirsk State University, Novosibirsk 630090 (Russian Federation); Aushev, T. [Institute for Theoretical and Experimental Physics, Moscow (Russian Federation); Bakich, A.M. [School of Physics, University of Sydney, NSW 2006 (Australia); Bay, A. [École Polytechnique Fédérale de Lausanne, EPFL, Lausanne (Switzerland); Bhardwaj, V. [Nara Women' s University, Nara (Japan); Bhuyan, B. [Indian Institute of Technology Guwahati, Guwahati (India); Bischofberger, M. [Nara Women' s University, Nara (Japan); Bozek, A. [H. Niewodniczanski Institute of Nuclear Physics, Krakow (Poland); Bračko, M. [University of Maribor, Maribor (Slovenia); J. Stefan Institute, Ljubljana (Slovenia); Browder, T.E. [University of Hawaii, Honolulu, HI (United States); Chang, M.-C. [Department of Physics, Fu Jen Catholic University, Taipei, Taiwan (China); Chen, A. [National Central University, Chung-li, Taiwan (China); Chen, P. [Department of Physics, National Taiwan University, Taipei, Taiwan (China); Cheon, B.G. [Hanyang University, Seoul (Korea, Republic of); Chistov, R. [Institute for Theoretical and Experimental Physics, Moscow (Russian Federation); and others

    2013-02-26

    We search for lepton-flavor and lepton-number-violating τ decays into a lepton (ℓ= electron or muon) and two charged mesons (h,h{sup ′}=π{sup ±} or K{sup ±}) using 854 fb{sup −1} of data collected with the Belle detector at the KEKB asymmetric-energy e{sup +}e{sup −} collider. We obtain 90% confidence level upper limits on the τ→ℓhh{sup ′} branching fractions in the range (2.0–8.4)×10{sup −8}. These results improve upon our previously published upper limits by factors of about 1.8 on average.

  13. A ROTATING MOLECULAR DISK TOWARD IRAS 18162-2048, THE EXCITING SOURCE OF HH 80-81

    International Nuclear Information System (INIS)

    Fernandez-Lopez, M.; Curiel, S.; Girart, J. M.; Gomez, Y.; Ho, P. T. P.; Patel, N.

    2011-01-01

    We present several molecular line emission arcsecond and subarcsecond observations obtained with the Submillimeter Array in the direction of the massive protostar IRAS 18162-2048, the exciting source of HH 80-81. The data clearly indicate the presence of a compact (radius ∼425-850 AU) SO 2 structure, enveloping the more compact (radius ∼ sun . The SO 2 spectral line data also allow us to constrain the structure temperature between 120 and 160 K and the volume density ∼> 2 x 10 9 cm -3 . We also find that such a rotating flattened system could be unstable due to gravitational disturbances. The data from C 17 O line emission show a dense core within this star-forming region. Additionally, the H 2 CO and SO emissions appear clumpy and trace the disk-like structure, a possible interaction between a molecular core and the outflows, and in part, the cavity walls excavated by the thermal radio jet.

  14. Cellulose-dependent expression and antibacterial characteristics of surfactin from Bacillus subtilis HH2 isolated from the giant panda

    Science.gov (United States)

    Zhong, Zhijun; Su, Huaiyi; Li, Jin; Li, Haozhou; Feng, Fan; Lan, Jingchao; Zhang, Zhihe; Fu, Hualin; Hu, Yanchun; Cao, Suizhong; Chen, Weigang; Deng, Jiabo; Yu, Jianqiu; Zhang, Wenping

    2018-01-01

    Surfactin secreted by Bacillus subtilis can confer strong, diverse antipathogenic effects, thereby benefitting the host. Carbon source is an important factor for surfactin production. However, the mechanism that bacteria utilize cellulose, the most abundant substance in the intestines of herbivores, to produce surfactin remains unclear. Here, we used B. subtilis HH2, isolated from the feces of a giant panda, as a model to determine changes in surfactin expression in the presence of different concentrations of cellulose by quantitative polymerase chain reaction and high-performance liquid chromatography. We further investigated the antimicrobial effects of surfactin against three common intestinal pathogens (Escherichia coli, Staphylococcus aureus, and Salmonella enterica) and its resistance to high temperature (60–121°C), pH (1–12), trypsin (100–300 μg/mL, pH 8), and pepsin (100–300 μg/mL, pH 2). The results showed that the surfactin expressed lowest in bacteria cultured in the presence of 1% glucose medium as the carbon source, whereas increased in an appropriate cellulose concentration (0.67% glucose and 0.33% cellulose). The surfactin could inhibit E. coli and Staphylococcus aureus, but did not affect efficiently for Salmonella enterica. The antibacterial ability of surfactin did not differ according to temperature (60–100°C), pH (2–11), trypsin (100–300 μg/mL), and pepsin (100–300 μg/mL; P > 0.05), but decreased significantly at extreme environments (121°C, pH 1 or 12; P < 0.05) compared with that in the control group (37°C, pH = 7, without any protease). In conclusion, our findings indicated that B. subtilis HH2 could increase surfactin expression in an appropriate cellulose environment and thus provide benefits to improve the intestinal health of herbivores. PMID:29385201

  15. Cellulose-dependent expression and antibacterial characteristics of surfactin from Bacillus subtilis HH2 isolated from the giant panda.

    Directory of Open Access Journals (Sweden)

    Ziyao Zhou

    Full Text Available Surfactin secreted by Bacillus subtilis can confer strong, diverse antipathogenic effects, thereby benefitting the host. Carbon source is an important factor for surfactin production. However, the mechanism that bacteria utilize cellulose, the most abundant substance in the intestines of herbivores, to produce surfactin remains unclear. Here, we used B. subtilis HH2, isolated from the feces of a giant panda, as a model to determine changes in surfactin expression in the presence of different concentrations of cellulose by quantitative polymerase chain reaction and high-performance liquid chromatography. We further investigated the antimicrobial effects of surfactin against three common intestinal pathogens (Escherichia coli, Staphylococcus aureus, and Salmonella enterica and its resistance to high temperature (60-121°C, pH (1-12, trypsin (100-300 μg/mL, pH 8, and pepsin (100-300 μg/mL, pH 2. The results showed that the surfactin expressed lowest in bacteria cultured in the presence of 1% glucose medium as the carbon source, whereas increased in an appropriate cellulose concentration (0.67% glucose and 0.33% cellulose. The surfactin could inhibit E. coli and Staphylococcus aureus, but did not affect efficiently for Salmonella enterica. The antibacterial ability of surfactin did not differ according to temperature (60-100°C, pH (2-11, trypsin (100-300 μg/mL, and pepsin (100-300 μg/mL; P > 0.05, but decreased significantly at extreme environments (121°C, pH 1 or 12; P < 0.05 compared with that in the control group (37°C, pH = 7, without any protease. In conclusion, our findings indicated that B. subtilis HH2 could increase surfactin expression in an appropriate cellulose environment and thus provide benefits to improve the intestinal health of herbivores.

  16. Beals Syndrome

    Science.gov (United States)

    ... the syndrome. How does Beals syndrome compare with Marfan syndrome? People with Beals syndrome have many of the ... bone) and aortic enlargement problems as people with Marfan syndrome, and treatments for these problems are the same. ...

  17. 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

  18. Resonant Higgs boson pair production in the $hh\\rightarrow b\\bar{b} \\; WW \\rightarrow b\\bar{b} \\ell^+ \

    CERN Document Server

    Martín Lozano, Víctor; Park, Chan Beom

    2015-01-01

    Adding a scalar singlet provides one of the simplest extensions of the Standard Model. In this work we briefly review the latest constraints on the mass and mixing of the new Higgs boson and study its production and decay at the LHC. We mainly focus on double Higgs production in the $hh \\rightarrow b \\bar{b} WW \\rightarrow b \\bar{b} \\ell^+ \

  19. Production of bifunctional proteins by Aspergillus awamori: Llama variable heavy chain antibody fragment (V-HH) R9 coupled to Arthromyces ramosus peroxidase (ARP)

    NARCIS (Netherlands)

    Joosten, V.; Roelofs, M.S.; Dries, van den N.; Goosen, T.; Verrips, C.T.; Hondel, van den C.A.M.J.J.; Lokman, B.C.

    2005-01-01

    The Arthromyces ramosus peroxidase gene (arp) was genetically fused to either the 5'- or 3'-terminal ends of the gene encoding llama variable heavy chain antibody fragment V-HH R9, resulting in the fusion expression cassettes ARP-R9 or R9-ARP. Aspergillus awamori transformants were obtained which

  20. Cushing syndrome

    Science.gov (United States)

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

  1. LEOPARD syndrome

    Science.gov (United States)

    Multiple lentigines syndrome; Noonan syndrome with multiple lentigines ... Genetics Home Reference -- ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines National Organization for Rare Disorders -- ...

  2. A 100 au Wide Bipolar Rotating Shell Emanating from the HH 212 Protostellar Disk: A Disk Wind?

    Science.gov (United States)

    Lee, Chin-Fei; Li, Zhi-Yun; Codella, Claudio; Ho, Paul T. P.; Podio, Linda; Hirano, Naomi; Shang, Hsien; Turner, Neal J.; Zhang, Qizhou

    2018-03-01

    HH 212 is a Class 0 protostellar system found to host a “hamburger”-shaped dusty disk with a rotating disk atmosphere and a collimated SiO jet at a distance of ∼400 pc. Recently, a compact rotating outflow has been detected in SO and SO2 toward the center along the jet axis at ∼52 au (0.″13) resolution. Here we resolve the compact outflow into a small-scale wide-opening rotating outflow shell and a collimated jet, with the observations in the same S-bearing molecules at ∼16 au (0.″04) resolution. The collimated jet is aligned with the SiO jet, tracing the shock interactions in the jet. The wide-opening outflow shell is seen extending out from the inner disk around the SiO jet and has a width of ∼100 au. It is not only expanding away from the center, but also rotating around the jet axis. The specific angular momentum of the outflow shell is ∼40 au km s‑1. Simple modeling of the observed kinematics suggests that the rotating outflow shell can trace either a disk wind or disk material pushed away by an unseen wind from the inner disk or protostar. We also resolve the disk atmosphere in the same S-bearing molecules, confirming the Keplerian rotation there.

  3. 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.

  4. 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

  5. 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 ...

  6. 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), ...

  7. Determination of trace elements in the human hair reference material, HH-I, by neutron activation analysis and atomic absorption spectrophotometry

    International Nuclear Information System (INIS)

    Coetzee, P.; Pieterse, H.

    1986-01-01

    Analytical procedures are presented and problem areas identified with regard to the determination of trace elements in IAEA powdered human hair reference material, HH-I, of limited sample size (100-200 mg), by NAA and graphite furnace AAS. Results obtained for the twelve elements As, Cd, Co, Cr, Cu, Fe, Hg, Mn, Ni, Sb, Se, and Zn studied in human hair and other biological reference material like orchard leaves, seaplant material, and copepod compare satisfactorily with the certified values

  8. Revisit the landscape of protonated water clusters H+(H2O)n with n = 10-17: An ab initio global search

    Science.gov (United States)

    Shi, Ruili; Li, Keyao; Su, Yan; Tang, Lingli; Huang, Xiaoming; Sai, Linwei; Zhao, Jijun

    2018-05-01

    Using a genetic algorithm incorporated with density functional theory, we explore the ground state structures of protonated water clusters H+(H2O)n with n = 10-17. Then we re-optimize the isomers at B97-D/aug-cc-pVDZ level of theory. The extra proton connects with a H2O molecule to form a H3O+ ion in all H+(H2O)10-17 clusters. The lowest-energy structures adopt a monocage form at n = 10-16 and core-shell structure at n = 17 based on the MP2/aug-cc-pVTZ//B97-D/aug-cc-pVDZ+ZPE single-point-energy calculation. Using second-order vibrational perturbation theory, we further calculate the infrared spectra with anharmonic correction for the ground state structures of H+(H2O)10-17 clusters at the PBE0/aug-cc-pVDZ level. The anharmonic correction to the spectra is crucial since it reproduces the experimental results quite well. The extra proton weakens the O-H bond strength in the H3O+ ion since the Wiberg bond order of the O-H bond in the H3O+ ion is smaller than that in H2O molecules, which causes a red shift of the O-H stretching mode in the H3O+ ion.

  9. 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 ......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...

  10. Resolving the Polarized Dust Emission of the Disk around the Massive Star Powering the HH 80–81 Radio Jet

    Science.gov (United States)

    Girart, J. M.; Fernández-López, M.; Li, Z.-Y.; Yang, H.; Estalella, R.; Anglada, G.; Áñez-López, N.; Busquet, G.; Carrasco-González, C.; Curiel, S.; Galvan-Madrid, R.; Gómez, J. F.; de Gregorio-Monsalvo, I.; Jiménez-Serra, I.; Krasnopolsky, R.; Martí, J.; Osorio, M.; Padovani, M.; Rao, R.; Rodríguez, L. F.; Torrelles, J. M.

    2018-04-01

    Here we present deep (16 μJy beam‑1), very high (40 mas) angular resolution 1.14 mm, polarimetric, Atacama Large Millimeter/submillimeter Array (ALMA) observations toward the massive protostar driving the HH 80–81 radio jet. The observations clearly resolve the disk oriented perpendicularly to the radio jet, with a radius of ≃0.″171 (∼291 au at 1.7 kpc distance). The continuum brightness temperature, the intensity profile, and the polarization properties clearly indicate that the disk is optically thick for a radius of R ≲ 170 au. The linear polarization of the dust emission is detected almost all along the disk, and its properties suggest that dust polarization is produced mainly by self-scattering. However, the polarization pattern presents a clear differentiation between the inner (optically thick) part of the disk and the outer (optically thin) region of the disk, with a sharp transition that occurs at a radius of ∼0.″1 (∼170 au). The polarization characteristics of the inner disk suggest that dust settling has not occurred yet with a maximum dust grain size between 50 and 500 μm. The outer part of the disk has a clear azimuthal pattern but with a significantly higher polarization fraction compared to the inner disk. This pattern is broadly consistent with the self-scattering of a radiation field that is beamed radially outward, as expected in the optically thin outer region, although contribution from non-spherical grains aligned with respect to the radiative flux cannot be excluded.

  11. Clinicians' perceptions of usefulness of the PubMed4Hh mobile device application for clinical decision making at the point of care: a pilot study.

    Science.gov (United States)

    Gartrell, Kyungsook; Brennan, Caitlin W; Wallen, Gwenyth R; Liu, Fang; Smith, Karen G; Fontelo, Paul

    2018-05-08

    Although evidence-based practice in healthcare has been facilitated by Internet access through wireless mobile devices, research on the effectiveness of clinical decision support for clinicians at the point of care is lacking. This study examined how evidence as abstracts and the bottom-line summaries, accessed with PubMed4Hh mobile devices, affected clinicians' decision making at the point of care. Three iterative steps were taken to evaluate the usefulness of PubMed4Hh tools at the NIH Clinical Center. First, feasibility testing was conducted using data collected from a librarian. Next, usability testing was carried out by a postdoctoral research fellow shadowing clinicians during rounds for one month in the inpatient setting. Then, a pilot study was conducted from February, 2016 to January, 2017, with clinicians using a mobile version of PubMed4Hh. Invitations were sent via e-mail lists to clinicians (physicians, physician assistants and nurse practitioners) along with periodic reminders. Participants rated the usefulness of retrieved bottom-line summaries and abstracts and indicated their usefulness on a 7-point Likert scale. They also indicated location of use (office, rounds, etc.). Of the 166 responses collected in the feasibility phase, more than half of questions (57%, n = 94) were answerable by both the librarian using various resources and by the postdoctoral research fellow using PubMed4Hh. Sixty-six questions were collected during usability testing. More than half of questions (60.6%) were related to information about medication or treatment, while 21% were questions regarding diagnosis, and 12% were specific to disease entities. During the pilot study, participants reviewed 34 abstracts and 40 bottom-line summaries. The abstracts' usefulness mean scores were higher (95% CI [6.12, 6.64) than the scores of the bottom-line summaries (95% CI [5.25, 6.10]). The most frequent reason given was that it confirmed current or tentative diagnostic or

  12. Progeria Research Foundation Diagnostic Testing Program

    Science.gov (United States)

    ... Share the DVD Meet the Kids in the Movie Bring LATS to the classroom! Close News/Events ... this could severely affect their research results and interpretation. Through the PRF Diagnostics Program, each cell line ...

  13. Studying the outflow-core interaction with ALMA Cycle 1 observations of the HH 46/47 molecular outflow

    Science.gov (United States)

    Zhang, Yichen; Arce, Hector G.; Mardones, Diego; Dunham, Michael; Garay, Guido; Noriega-Crespo, Alberto; Corder, Stuartt; Offner, Stella; Cabrit, Sylvie

    2016-01-01

    We present ALMA Cycle 1 observations of the HH 46/47 molecular outflow which is driven by a low-mass Class 0/I protostar. Previous ALMA Cycle 0 12CO observation showed outflow cavities produced by the entrainment of ambient gas by the protostellar jet and wide-angle wind. Here we present analysis of observation of 12CO, 13CO, C18O and other species using combined 12m array and ACA observations. The improved angular resolution and sensitivity allow us to detect details of the outflow structure. Specially, we see that the outflow cavity wall is composed of two or more layers of outflowing gas, which separately connect to different shocked regions along the outflow axis inside the cavity, suggesting the outflow cavity wall is composed of multiple shells entrained by a series of jet bow-shock events. The new 13CO and C18O data also allow us to trace relatively denser and slower outflow material than that traced by the 12CO. These species are only detected within about 1 to 2 km/s from the cloud velocity, tracing the outflow to lower velocities than what is possible using only the 12CO emission. Interestingly, the cavity wall of the red lobe appears at very low outflow velocities (as low as ~0.2 km/s). In addition, 13CO and C18O allow us to correct for the CO optical depth, allowing us to obtain more accurate estimates of the outflow mass, momentum and kinetic energy. Applying the optical depth correction significantly increases the previous mass estimate by a factor of 14. The outflow kinetic energy distribution shows that even though the red lobe is mainly entrained by jet bow-shocks, most of the outflow energy is being deposited into the cloud at the base of the outflow cavity rather than around the heads of the bow shocks. The estimated total mass, momentum, and energy of the outflow indicate that the outflow has the ability to disperse the parent core. We found possible evidence for a slowly moving rotating outflow in CS. Our 13CO and C18O observations also trace a

  14. ROTATION AND OUTFLOW MOTIONS IN THE VERY LOW-MASS CLASS 0 PROTOSTELLAR SYSTEM HH 211 AT SUBARCSECOND RESOLUTION

    International Nuclear Information System (INIS)

    Lee, C.-F.; Hirano, Naomi; Ho, Paul T. P.; Shang, Hsien; Palau, Aina; Bourke, Tyler L.; Zhang Qizhou

    2009-01-01

    HH 211 is a nearby young protostellar system with a highly collimated jet. We have mapped it in 352 GHz continuum, SiO (J = 8 - 7), and HCO + (J = 4 - 3) emission at up to ∼0.''2 resolution with the Submillimeter Array (SMA). The continuum source is now resolved into two sources, SMM1 and SMM2, with a separation of ∼ 84 AU. SMM1 is seen at the center of the jet, probably tracing a (inner) dusty disk around the protostar driving the jet. SMM2 is seen to the southwest of SMM1 and may trace an envelope-disk around a small binary companion. A flattened envelope-disk is seen in HCO + around SMM1 with a radius of ∼ 80 AU perpendicular to the jet axis. Its velocity structure is consistent with a rotation motion and can be fitted with a Keplerian law that yields a mass of ∼50 ± 15 M Jup (a mass of a brown dwarf) for the protostar. Thus, the protostar could be the lowest mass source known to have a collimated jet and a rotating flattened envelope-disk. A small-scale (∼200 AU) low-speed (∼2 km s -1 ) outflow is seen in HCO + around the jet axis extending from the envelope-disk. It seems to rotate in the same direction as the envelope-disk and may carry away part of the angular momentum from the envelope-disk. The jet is seen in SiO close to ∼100 AU from SMM1. It is seen with a 'C-shaped' bending. It has a transverse width of ∼ -1 . A possible velocity gradient is seen consistently across its innermost pair of knots, ∼0.5 km s -1 at ∼10 AU, consistent with the sense of rotation of the envelope-disk. If this gradient is an upper limit of the true rotational gradient of the jet, then the jet carries away a very small amount of angular momentum of ∼ -1 and thus must be launched from the very inner edge of the disk near the corotation radius.

  15. Status and perspectives for the Pd-103 radioactive seeds production at the cyclotron IFIN-HH from Bucharest

    International Nuclear Information System (INIS)

    Dudu, D.; Popa, V.; Racolta, P.M.; Tetcu, N.; Voiculescu, Dana

    2001-01-01

    Historically, 103 Pb, a short-lived isotope for permanent implant treatment of early stage prostate cancer, was generated via the 102 Pd(n,γ) 103 Pd reaction which relied on the availability of 1% naturally abundant 102 Pd in an enriched form and its moderately high neutron capture cross section. For the last 12 years, the accelerator production method for 103 Pd has been based on the irradiation of the rhodium metal with rather low energy protons via the reaction 103 Rh(p,n) 103 Pd. Big corporations from USA operate more than 10 dedicated accelerators to produce this nuclide. The prostate cancer market with 180,000 new cases reported annually justifies the effort for this radionuclide production. Recently, a manufacture in Europe also brought the USA patented type of 103 Pd seed implants on the world market. Our interest for this radioisotope production was started in 2000, as a result of the demand of two big hospitals from Bucharest and the opportunity to participate in a research programme (333-F2-RC 832) co-ordinated by the IAEA in Vienna. The U-120 Cyclotron, made in 1956 and brought from Russia, was quite a reliable machine. The accelerator is a classical cyclotron with adjustable energy. Now at the level of our technology, we can maintain it by ourselves and operate it quite independently. The experiments for the first year were focused on obtaining homemade data on cross-section, thick target yields and possible contaminants for the nuclear reaction 103 Rh (p,n) 103 Pb in the proton energy region 5-14 MeV. The experiments were performed at our Van de Graaff HV Tandem FN 15 accelerator (8 MV on terminal) by using proton beams up to 14 MeV with a current intensity of 100 nA. Design and adaptation of a dedicated beam line at IFIN-HH Cyclotron for the 103 production was a priority in our work planning for the first year

  16. 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.

  17. Progerin sequestration of PCNA promotes replication fork collapse and mislocalization of XPA in laminopathy-related progeroid syndromes.

    Science.gov (United States)

    Hilton, Benjamin A; Liu, Ji; Cartwright, Brian M; Liu, Yiyong; Breitman, Maya; Wang, Youjie; Jones, Rowdy; Tang, Hui; Rusinol, Antonio; Musich, Phillip R; Zou, Yue

    2017-09-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder that is caused by a point mutation in the LMNA gene, resulting in production of a truncated farnesylated-prelamin A protein (progerin). We previously reported that XPA mislocalized to the progerin-induced DNA double-strand break (DSB) sites, blocking DSB repair, which led to DSB accumulation, DNA damage responses, and early replication arrest in HGPS. In this study, the XPA mislocalization to DSBs occurred at stalled or collapsed replication forks, concurrent with a significant loss of PCNA at the forks, whereas PCNA efficiently bound to progerin. This PCNA sequestration likely exposed ds-ssDNA junctions at replication forks for XPA binding. Depletion of XPA or progerin each significantly restored PCNA at replication forks. Our results suggest that although PCNA is much more competitive than XPA in binding replication forks, PCNA sequestration by progerin may shift the equilibrium to favor XPA binding. Furthermore, we demonstrated that progerin-induced apoptosis could be rescued by XPA, suggesting that XPA-replication fork binding may prevent apoptosis in HGPS cells. Our results propose a mechanism for progerin-induced genome instability and accelerated replicative senescence in HGPS.-Hilton, B. A., Liu, J., Cartwright, B. M., Liu, Y., Breitman, M., Wang, Y., Jones, R., Tang, H., Rusinol, A., Musich, P. R., Zou, Y. Progerin sequestration of PCNA promotes replication fork collapse and mislocalization of XPA in laminopathy-related progeroid syndromes. © FASEB.

  18. 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 ...

  19. Aarskog syndrome

    Science.gov (United States)

    Aarskog disease; Aarskog-Scott syndrome; AAS; Faciodigitogenital syndrome; Gaciogenital dysplasia ... Aarskog syndrome is a genetic disorder that is linked to the X chromosome. It affects mainly males, but females ...

  20. Williams syndrome

    Science.gov (United States)

    Williams-Beuren syndrome ... Williams syndrome is caused by not having a copy of several genes. It may be passed down in families. ... history of the condition. However, people with Williams syndrome have a 50% chance of passing the disorder ...

  1. Cushing's Syndrome

    OpenAIRE

    宗, 友厚; 伊藤, 勇; 諏訪, 哲也; 武田, 純; MUNE, Tomoatsu

    2003-01-01

    Sixteen cases of verified Cushing's syndrome, and twelve cases of probable Cushing's syndrome were reviewed and data on them were compared with various reports on Cushing's syndrome in the literature.

  2. Tourette syndrome

    Science.gov (United States)

    Gilles de la Tourette syndrome; Tic disorders - Tourette syndrome ... Tourette syndrome is named for Georges Gilles de la Tourette, who first described this disorder in 1885. The disorder is likely passed down through families. ...

  3. 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.

  4. Deep VLA images of the HH 124 IRS radio cluster and its surroundings, and a new determination of the distance to NGC 2264

    Energy Technology Data Exchange (ETDEWEB)

    Dzib, Sergio A. [Max Planck Institut für Radioastronomie, Auf del Hügel 69, D-53121 Bonn (Germany); Loinard, Laurent; Rodríguez, Luis F. [Centro de Radioastronomía y Astrofísica, Universidad NacionalAutónoma de México Apartado Postal 3-72, 58090 Morelia, Michoacán (Mexico); Galli, Phillip, E-mail: sdzib@mpifr-bonn.mpg.de [Instituto de Astronomia, Geofísica e Ciências Atmosféricas, Universidade de São Paulo, Rua do Matão 1226, Cidade Universitária, 05508-900 São Paulo, SP (Brazil)

    2014-06-20

    We present new deep (σ ∼ 6 μJy) radio images of the HH 124 IRS radio cluster at 4.8 and 7.5 GHz. We detect a total of 50 radio sources, most of them compact. Variability and spectral indices were analyzed in order to determine the nature of the sources and of their radio emission. A proper motion study was also performed for several of these radio sources using previously reported radio observations. Our analysis shows that 11 radio sources can be associated with Galactic objects, most of them probably young stars. Interestingly, 8 of these sources are in an area less than 1 arcmin{sup 2} in size. The importance of such compact clusters resides in that all of its members can be observed in a single pointing with most telescopes and are, therefore, ideal for multi-wavelength studies of variability. Another 4 of the detected sources are clearly extragalactic. Finally, we propose from statistical arguments that out of the remaining sources, about 10 are Galactic, but our study does not allow us to identify which of the sources fall in that specific category. The relatively large proper motions observed for the sources in HH 124 IRS suggest that this region is located at about 400 pc from the Sun. This is significantly smaller than the ∼800-900 pc distance usually assigned to the nearby open cluster NGC 2264 with which HH 124 is thought to be associated. However, a reanalysis of the Hipparcos parallaxes for members of NGC 2264, a convergent point approach, and a kinematic analysis all argue in favor of a distance of the order of 400 pc for NGC 2264 as well.

  5. Congenital Hypothalamic "Hamartoblastoma" Versus "Hamartoma": Suggestions for Neuropathologic Terminology Emanating From a Mid-gestational Autopsy Case of Pallister-Hall Syndrome.

    Science.gov (United States)

    Dunham, C; McFadden, D; Dahlgren, L; Butler, B; Hamilton, S; McKinnon, M

    2018-01-01

    Pallister-Hall syndrome (PHS) is a rare malformative disorder that is due to truncating functional repressor mutations in GLI3. Since the seminal publication in 1980, hypothalamic tumors have been recognized to be a cardinal feature of PHS. In their original description of the neuropathologic features of PHS, Clarren et al. coined the term "hamartoblastoma" to characterize what they deemed to be a dual malformative and neoplastic mass of the hypothalamus. In subsequent published cases/series of PHS, the term "hamartoma" was often substituted for hamartoblastoma given what appeared to be a benign natural history of this lesion. Additional confusion in the literature has ensued since most hypothalamic hamartomas (HH) encountered on the clinical neuropathology service are "isolated" in nature (ie, no other congenital malformations) and present in a very different and stereotypical fashion with gelastic seizures and/or precocious puberty. While genomic investigations of isolated HH have begun to uncover a mutational profile of these cases, GLI3 mutations have only been recognized in a small subset of isolated HH. Herein, we describe the autopsy findings from a 21-week gestational age fetus with features of PHS. Moreover, we provide a detailed description of the hypothalamic tumor affecting this fetus and propose a novel subclassification of HH, distinguishing syndromic from isolated forms based upon the presence or absence of neocortical-like areas.

  6. Hepatorenal syndrome

    Science.gov (United States)

    ... 2016:chap 153. Nevah MI, Fallon MB. Hepatic encephalopathy, hepatorenal syndrome, hepatopulmonary syndrome, and other systemic complications of liver disease. In: Feldman M, Friedman LS, Brandt LJ, ...

  7. 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.

  8. Hallermann-Streiff syndrome associated with small cerebellum, endocrinopathy and increased chromosomal breakage.

    Science.gov (United States)

    Hou, J W

    2003-07-01

    Hallermann-Streiff syndrome (HSS) is a rare clinic entity of unknown aetiology. Further clinical and metabolic-genetic evaluations are indicated. A 2-mo-old female baby presented with ocular abnormalities and severe failure to thrive since birth. The clinical features were compatible with the diagnosis of HSS. Further imaging, metabolic and cytogenetic examinations were performed. Features characteristic of HSS were dyscephaly with mandibular and nasal cartilage hypoplasia, microphthalmia, bilateral cataracts with congenital glaucoma, natal teeth and proportionate dwarfism. Rare anomalies such as choanal atresia and small cerebellum, very low insulin-like growth factor I level, hypothyroidism, generalized organic aciduria were also noticed. An increased chromosomal breakage rate is suggestive of the existence of some DNA repair defects in HSS patients. The associated anomalies in this patient may broaden the clinical spectrum of HSS. Underlying conditions of organic aciduria, growth factor deficiency and impaired DNA repair are likely to contribute to the progeria-like facies, congenital cataracts and growth failure.

  9. 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...

  10. 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.

  11. 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.

  12. 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.

  13. 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 hormone that ... your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are Upper body obesity ...

  14. 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 ...

  15. Metabolic Syndrome

    Science.gov (United States)

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

  16. 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, ...

  17. 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. ...

  18. Caplan syndrome

    Science.gov (United States)

    ... enable JavaScript. Rheumatoid pneumoconiosis (RP; also known as Caplan syndrome) is swelling (inflammation) and scarring of the ... avoid exposure to inorganic dust. Alternative Names RP; Caplan syndrome; Pneumoconiosis - rheumatoid; Silicosis - rheumatoid pneumoconiosis; Coal worker's ...

  19. 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 ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

  20. Gardner's syndrome

    International Nuclear Information System (INIS)

    Sobrado Junior, C.W.; Bresser, A.; Cerri, G.G.; Habr-Gama, A.; Pinotti, H.W.; Magalhaes, A.

    1988-01-01

    A case of familiar poliposis of colon related to a right mandibular osteoma is reported (this association is usually called Gardner's syndrome). Radiologic pictures ae shown and some commentaries about this syndrome concerning the treatment are made. (author) [pt

  1. Sotos Syndrome

    Science.gov (United States)

    ... Clinical Trials Organizations Publications Definition Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation ... have also been reported. × Definition Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation ...

  2. 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 ...

  3. Bartter syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000308.htm Bartter syndrome To use the sharing features on this page, please enable JavaScript. Bartter syndrome is a group of rare conditions that affect ...

  4. Pendred Syndrome

    Science.gov (United States)

    ... other possible long-term consequences of the syndrome. Children with Pendred syndrome should start early treatment to gain communication skills, such as learning sign language or cued speech or learning to ...

  5. Dravet Syndrome

    Science.gov (United States)

    ... and supports a broad program of basic and clinical research on all types of epilepsy, including Dravet syndrome. Study of the genetic defects responsible for Dravet syndrome and related ... Publications Definition Dravet ...

  6. Down Syndrome

    Science.gov (United States)

    ... Down syndrome increases as a woman gets older. Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include ... occupational, and/or educational therapy. With support and treatment, many ... Down syndrome live happy, productive lives. NIH: National Institute of ...

  7. Rowell syndrome

    Directory of Open Access Journals (Sweden)

    Ramesh Y Bhat

    2014-01-01

    Full Text Available Rowell syndrome is a rare disease consisting of erythema multiforme-like lesions associated with lupus erythematosus. The syndrome occurs mostly in middle-aged women. The authors describe the syndrome in a 15-year-old boy who responded well to systemic steroids and hydroxychloroquine.

  8. Aicardi Syndrome

    Science.gov (United States)

    ... from Aicardi-Goutieres syndrome, which is an inherited encephalopathy that affects newborn infants.) × Definition Aicardi syndrome is a rare genetic ... from Aicardi-Goutieres syndrome, which is an inherited encephalopathy that affects newborn infants.) View Full Definition Treatment There is no ...

  9. Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain.

    Science.gov (United States)

    Jullien, Laurent; Kannengiesser, Caroline; Kermasson, Laetitia; Cormier-Daire, Valérie; Leblanc, Thierry; Soulier, Jean; Londono-Vallejo, Arturo; de Villartay, Jean-Pierre; Callebaut, Isabelle; Revy, Patrick

    2016-05-01

    The DNA helicase RTEL1 participates in telomere maintenance and genome stability. Biallelic mutations in the RTEL1 gene account for the severe telomere biology disorder characteristic of the Hoyeraal-Hreidarsson syndrome (HH). Here, we report a HH patient (P4) carrying two novel compound heterozygous mutations in RTEL1: a premature stop codon (c.949A>T, p.Lys317*) and an intronic deletion leading to an exon skipping and an in-frame deletion of 25 amino-acids (p.Ile398_Lys422). P4's cells exhibit short and dysfunctional telomeres similarly to other RTEL1-deficient patients. 3D structure predictions indicated that the p.Ile398_Lys422 deletion affects a part of the helicase ARCH domain, which lines the pore formed with the core HD and the iron-sulfur cluster domains and is highly specific of sequences from the eukaryotic XPD family members. © 2016 WILEY PERIODICALS, INC.

  10. Dravets syndrom

    DEFF Research Database (Denmark)

    Hansen, Lars Kjaersgård; Rasmussen, Niels Henrik; Ousager, Lilian Bomme

    2010-01-01

    Dravet syndrome is an epileptic syndrome of infancy and early childhood. Most cases of Dravet syndrome seem to be due to a genetic defect causing the sodium channel to malfunction. We describe the main features of the syndrome. This epilepsy is medically intractable, but we call attention...... to the fact that some medications are of benefit and some could exacerbate the condition. Early recognition of the syndrome including by genetic testing could possibly improve outcome and reduce the need for other specialized investigations. Udgivelsesdato: 2010-Feb-22...

  11. Observations of Lambda(0)(b) -> Lambda K+pi(-) and Lambda(0)(b) -> Lambda K+K- decays and searches for other Lambda(0)(b) and Xi(0)(b) decays to Lambda h(+)h '(-) final states

    NARCIS (Netherlands)

    Aaij, R.; Beteta, C. Abelian; Adeva, B.; Adinolfi, M.; Ajaltouni, Z.; Akar, S.; Albrechtl, J.; Alessio, F.; Alexander, M.; Ali, S.; Alkhazov, G.; Cartelle, P. Alvarez; Alves, A. A.; Arnato, S.; Amerio, S.; Amhis, Y.; An, L.; Anderlini, L.; Andreassi, G.; Andreotti, M.; Andrews, J. E.; Appleby, R. B.; Gutierrez, O. Aquines; Archilli, F.; d'Argent, P.; Artamonov, A.; Artuso, M.; Aslanides, E.; Auriemma, G.; Baalouch, M.; Bachmann, S.; Back, J. J.; Badalov, A.; Baesso, C.; Baker, S.; Baldini, W.; Barlow, R. J.; Barschel, C.; Barsuk, S.; Barter, W.; Batozskaya, V.; Battista, V.; Beaucourt, L.; Beddow, J.; Bedeschi, F.; Bediaga, I.; Bel, L. J.; Onderwater, C. J. G.; Pellegrino, A.; Tolk, S.

    2016-01-01

    A search is performed for the charmless three-body decays of the Lambda(0)(b) and Xi(0)(b) baryons to the final states Lambda h(+)h'(-), where h(') = pi or K. The analysis is based on a data sample, corresponding to an integrated luminosity of 3 fb-1 of pp collisions, collected by the LHCb

  12. Generation of the problem-dependent data libraries for IFIN-HH WWR-S spent fuel storage criticality and dose calculation

    International Nuclear Information System (INIS)

    Ene, Daniela; Tigau, F.

    1998-01-01

    The methods used for the radioactivity inventory calculation and dose evaluation of the fuel elements irradiated in the WWR-S IFIN-HH reactor are discussed in this work. A particular attention is paid to the processed problem-dependent nuclear libraries. SAS2H, a complex sequence of the SCALE-4.3 code system containing the modules BONAMI - NITAWL - XSDRNPM - COUPLE - ORIGEN-S - XSDOSE, has been assimilated on the IFIN-HH computer and applied to update the ORIGEN-S libraries by producing problem-dependent processed data libraries needed to perform the depletion and shielding analysis. This sequence uses one of the eight associated data libraries of the SCALE-4.3 system according to the choice of the user. The method consists in the following analysis processes: i) lattice cell neutron analysis to produce the flux weighting spectrum for activation library updating; ii) update of the nuclear data constants of the ORIGEN-S libraries; iii) depletion and decay analysis for a specified fuel assembly and irradiation history in order to generate gamma and neutron source strength and spectra. iv) one-dimensional radial shielding calculation for the evaluation of the angular neutron and gamma flux at the surface of a spent fuel shipping cask and further calculation of the dose rates at various points outside the cask. An efficient alternative of the calculation sequence mentioned above is the ARP (Automatic Rapid Processing) method conceived in order to generate independently ORIGEN-S libraries and to reduce substantially the running time. The substance of this method is the generation of the problem-dependent libraries from basis libraries a priori created by SAS2H for specific fuel assembly type and further interpolation of two independent variables, enrichment and burnup. Specific applications concerning WWR-S spent fuel were performed: i) generation of three problem-dependent libraries for the S-36 fuel assembly taking into account the maximum value of the burnup of this

  13. Temperature-dependent transitions between normal and inverse isotope effects pertaining to the interaction of H-H and C-H bonds with transition metal centers.

    Science.gov (United States)

    Parkin, Gerard

    2009-02-17

    Deuterium kinetic isotope effects (KIEs) serve as versatile tools to infer details about reaction mechanisms and the nature of transition states, while equilibrium isotope effects (EIEs) associated with the site preferences of hydrogen and deuterium enable researchers to study aspects of molecular structure. Researchers typically interpret primary deuterium isotope effects based on two simple guidelines: (i) the KIE for an elementary reaction is normal (k(H)/k(D) > 1) and (ii) the EIE is dictated by deuterium preferring to be located in the site corresponding to the highest frequency oscillator. In this Account, we evaluate the applicability of these rules to the interactions of H-H and C-H bonds with a transition metal center. Significantly, experimental and computational studies question the predictability of primary EIEs in these systems based on the notion that deuterium prefers to occupy the highest frequency oscillator. In particular, the EIEs for (i) formation of sigma-complexes by coordination of H-H and C-H bonds and (ii) oxidative addition of dihydrogen exhibit unusual temperature dependencies, such that the same system may demonstrate both normal (i.e., K(H)/K(D) > 1) and inverse (i.e., K(H)/K(D) ZPE (where SYM is the symmetry factor, MMI is the mass-moment of inertia term, EXC is the excitation term, and ZPE is the zero-point energy term), and the distinctive temperature profile results from the inverse ZPE (enthalpy) and normal [SYM x MMI x EXC] (entropy) components opposing each other and having different temperature dependencies. At low temperatures, the ZPE component dominates and the EIE is inverse, while at high temperatures, the [SYM x MMI x EXC] component dominates and the EIE is normal. The inverse nature of the ZPE term is a consequence of the rotational and translational degrees of freedom of RH (R = H, CH(3)) becoming low-energy isotopically sensitive vibrations in the product, while the normal nature of the [SYM x MMI x EXC] component

  14. 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.

  15. Refeeding syndrome

    OpenAIRE

    Tripathy, Swagata; Mishra, Padmini; Dash, S. C.

    2008-01-01

    Refeeding syndrome is a potentially fatal medical condition that may affect malnourished patients in response to an inappropriately rapid overfeeding. This commonly occurs following the institution of nutritional support, especially parenteral or enteral nutrition. The most characteristic pathophysiology of refeeding syndrome relates to the rapid consumption of phosphate after glucose intake and subsequent hypophosphatemia. Refeeding syndrome can manifest as either metabolic changes (hypokala...

  16. 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.

  17. Reye's Syndrome

    Science.gov (United States)

    ... that contain aspirin. Some hospitals and medical facilities conduct newborn screenings for fatty acid oxidation disorders to determine which children are at greater risk of developing Reye's syndrome. ...

  18. Marfan Syndrome (For Teens)

    Science.gov (United States)

    ... genetic disorder called Marfan syndrome. What Is Marfan Syndrome? Marfan syndrome is named after Antoine Marfan, the French ... immediately. What's Life Like for Teens With Marfan Syndrome? Marfan syndrome affects people differently, so life is not ...

  19. Learning about Marfan Syndrome

    Science.gov (United States)

    ... Additional Resources for Marfan Syndrome What is Marfan syndrome? Marfan syndrome is one of the most common inherited ... FAQ Top of page Additional Resources For Marfan Syndrome Marfan syndrome [nlm.nih.gov] From Medline Plus Marfan ...

  20. 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 ...

  1. 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 ...

  2. MicroHH 1.0: a computational fluid dynamics code for direct numerical simulation and large-eddy simulation of atmospheric boundary layer flows

    Science.gov (United States)

    van Heerwaarden, Chiel C.; van Stratum, Bart J. H.; Heus, Thijs; Gibbs, Jeremy A.; Fedorovich, Evgeni; Mellado, Juan Pedro

    2017-08-01

    This paper describes MicroHH 1.0, a new and open-source (www.microhh.org) computational fluid dynamics code for the simulation of turbulent flows in the atmosphere. It is primarily made for direct numerical simulation but also supports large-eddy simulation (LES). The paper covers the description of the governing equations, their numerical implementation, and the parameterizations included in the code. Furthermore, the paper presents the validation of the dynamical core in the form of convergence and conservation tests, and comparison of simulations of channel flows and slope flows against well-established test cases. The full numerical model, including the associated parameterizations for LES, has been tested for a set of cases under stable and unstable conditions, under the Boussinesq and anelastic approximations, and with dry and moist convection under stationary and time-varying boundary conditions. The paper presents performance tests showing good scaling from 256 to 32 768 processes. The graphical processing unit (GPU)-enabled version of the code can reach a speedup of more than an order of magnitude for simulations that fit in the memory of a single GPU.

  3. 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

  4. Nicotinamide nucleotide transhydrogenase from Rhodobacter capsulatus; the H+/H- ratio and the activation state of the enzyme during reduction of acetyl pyridine adenine dinucleotide.

    Science.gov (United States)

    Palmer, T; Jackson, J B

    1992-02-21

    Chromatophores from Rhodobacter capsulatus were incubated in the dark with NADPH and acetylpyridineadenine dinucleotide (AcPdAD+) in the presence of different concentrations of myxothiazol. The transhydrogenase activity was monitored until an appropriate mass action ratio, [AcPdAD+][NADPH]/[AcPdADH][NADP+], was reached. The sample was then illuminated and the initial rate of either AcPdAD+ reduction by NADPH or AcPdADH oxidation by NADP+ was recorded. The ratio of H+ translocated per H- equivalent transferred by transhydrogenase was calculated from the value of the membrane potential (delta pH = 0) at which illumination caused no net reaction in either direction. The mean value for the H+/H- ratio was 0.55. At greater values of [AcPdAD+][NADPH]/[AcPdADH][NADP+] than were employed in the above experiments and over a wider range of concentrations of myxothiazol, it was found that incremental increases in the membrane potential always gave rise to a decrease, never an increase in the rate of AcPdAD+ reduction. In contrast to the H(+)-ATP synthase, there is no evidence of any activation/deactivation of H(+)-transhydrogenase by the protonmotive force.

  5. Seckel syndrome: an overdiagnosed syndrome.

    OpenAIRE

    Thompson, E; Pembrey, M

    1985-01-01

    Five children in whom a diagnosis of Seckel syndrome had previously been made were re-examined in the genetic unit. One child had classical Seckel syndrome, a sib pair had the features of the syndrome with less severe short stature, and in two children the diagnosis was not confirmed. Seckel syndrome is only one of a group of low birth weight microcephalic dwarfism and careful attention should be paid to fulfillment of the major criteria defined by Seckel before the diagnosis is made. There r...

  6. Boucher Neuhäuser Syndrome - A rare cause of inherited hypogonadotropic hypogonadism. A case of two adult siblings with two novel mutations in PNPLA6.

    Science.gov (United States)

    Langdahl, Jakob H; Frederiksen, Anja L; Nguyen, Nina; Brusgaard, Klaus; Juhl, Claus B

    2017-02-01

    Boucher Neuhäuser Syndrome (BNS) is a rare clinical syndrome with autosomal recessive inheritance defined by early-onset ataxia, hypogonadism and chorioretinal dystrophy. We present two siblings diagnosed with BNS in late adult life identified with compound heterozygous state of two novel PNPLA6 mutations. Five healthy siblings were non- or heterozygous carriers of the mutations. The cases, which presented with ataxia in childhood and hypogonadotropic hypogonadism (HH), were diagnosed at age 17 and 25, respectively, when examined for delayed puberty. The youngest case, a 55-year old male, was referred to our department in 2006 for evaluation of secondary causes of osteoporosis, which he developed despite adequate testosterone replacement therapy. The unusual medical history with childhood ataxia and hypogonadotropic hypogonadism lead to further examinations and eventually the diagnosis of BNS. The older sister of the proband also displayed the triad of ataxia, HH and chorioretinal dystrophy accompanied by cerebellar atrophy and in 2014, we found the mutations in PNPLA6. BNS is a rare cause of HH and secondary osteoporosis, but should be considered in patients presenting with one or more of the key features. Genetic screening is becoming increasingly available and inexpensive and accordingly this may be considered earlier and by broader indication in unusual phenotypic presentations. The increasing knowledge of causes for inherited diseases should extend the use of genetic screening, as the correct diagnosis will benefit the patients. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  7. Burnout Syndrome

    OpenAIRE

    Panova, Gordana; Panov, Nenad; Stojanov, H; Sumanov, Gorgi; Panova, Blagica; Stojanovski, Angel; Nikolovska, Lence; Jovevska, Svetlana; Trajanovski, D; Asanova, D

    2013-01-01

    Introduction: Increasing work responsibilities, allocation of duties, loss of energy and motivation in everyday activities, emotional exhaustion, lack of time for themselves, insuffi cient time for rest and recreation, dissatisfaction in private life. All these symptoms can be cause of Burnout Syndrome. Aim: To see the importance of this syndrome, the consequences of job dissatisfaction, the environment, family and expression in drastic chan...

  8. 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 ...

  9. Fahr's Syndrome

    Science.gov (United States)

    ... or 50s, although it can occur at any time in childhood or adolescence. × Definition Fahr's Syndrome is a rare, genetically dominant, inherited ... or 50s, although it can occur at any time in childhood or adolescence. View Full Definition Treatment There is no cure for Fahr's Syndrome, ...

  10. 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...

  11. 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.

  12. 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....

  13. Noonan syndrome

    OpenAIRE

    Roberts, Amy E; Allanson, Judith E; Tartaglia, Marco; Gelb, Bruce D

    2013-01-01

    Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, and bleeding difficulties. Mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS–MAPK pathway, leading to pathway dysregulation. Management guidelines have been developed. Several clinically relevant genotype–phenotype correlations aid ris...

  14. 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.

  15. Genetics Home Reference: Stickler syndrome

    Science.gov (United States)

    ... 9 [updated 2017 Mar 16]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  16. Genetics Home Reference: Werner syndrome

    Science.gov (United States)

    ... 2 [updated 2016 Sep 29]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  17. Genetics Home Reference: Timothy syndrome

    Science.gov (United States)

    ... 15 [updated 2015 Jul 16]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  18. Genetics Home Reference: Pendred syndrome

    Science.gov (United States)

    ... 28 [updated 2014 May 29]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  19. Genetics Home Reference: Wagner syndrome

    Science.gov (United States)

    ... 3 [updated 2016 Jan 7]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  20. 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.

  1. Cowden syndrome

    Directory of Open Access Journals (Sweden)

    Ravi Prakash S

    2010-01-01

    Full Text Available Cowden syndrome or multiple hamartoma syndrome is an autosomal dominant condition with variable expressions that result mainly from mutation in the PTEN gene on arm 10q. It is characterized by multiple hamartomatous neoplasms of the skin, oral mucosa, gastrointestinal tract, bones, CNS, eyes, and genitourinary tract. Mucocutaneous features include trichilemmomas, oral mucosal papillomatosis, acral keratosis, and palmoplantar keratosis. Here we present a case of Cowden syndrome in a 14-year-old female patient with the chief complaint of multiple oral papillomatous lesions.

  2. Costello syndrome

    Directory of Open Access Journals (Sweden)

    Madhukara J

    2007-01-01

    Full Text Available Costello syndrome is a rare, distinctive, multiple congenital anomaly syndrome, characterized by soft, loose skin with deep palmar and plantar creases, loose joints, distinctive coarse facial features and skeletal and cardiac abnormalities. The affected patients have a predisposition to develop malignancy, developmental delays and mental retardation. Recently, a 7-year-old male child born to normal nonconsanguineous parents presented to us with abnormal facial features, arrhythmia, mitral valve dysfunction and growth retardation. His cutaneous examination revealed lax and pigmented skin over hands and feet with deep creases, acanthosis nigricans and short curly hairs. Its differentiation from other syndromes with similar clinical features is discussed in this article.

  3. Reye Syndrome

    Science.gov (United States)

    ... Legacy Society Make Gifts of Stock Donate Your Car Personal Fundraising Partnership & Support Share Your Story Spread the Word Give While You Shop Contact Us Donate Now What Is Reye’s Syndrome? ...

  4. Alagille Syndrome

    Science.gov (United States)

    ... Legacy Society Make Gifts of Stock Donate Your Car Personal Fundraising Partnership & Support Share Your Story Spread the Word Give While You Shop Contact Us Donate Now Alagille Syndrome Back Alagille ...

  5. Turner Syndrome

    Science.gov (United States)

    ... Failure to begin sexual changes expected during puberty Sexual development that "stalls" during teenage years Early end to menstrual cycles not due to pregnancy For most women with Turner syndrome, inability to ...

  6. [Refeeding syndrome].

    Science.gov (United States)

    Ševela, Stanislav; Novák, František; Kazda, Antonín; Brodská, Helena

    Despite being known more than 60 years, refeeding syndrome (RS) still bears many uncertainties. For example, its definition is not clear and definite, and the attitude to it varies from the complete neglect to over-prevention.The term "refeeding syndrome" refers to electrolyte and metabolic changes occurring in malnourished patients after the readministration of nutrition. These changes concern especially to phosphates and ions. Potassium, magnesium, naturism and fluids balance are involved. The changes lead to cell energetic metabolism and electric potential disturbances, with related clinical symptoms.Fully developed refeeding syndrome is quite rare; nevertheless it can be fatal for the patient. However, even its development can lead to many complications increasing the patient's morbidity and the length of stay in the hospital. Yet the refeeding syndrome is more or less predictable and if kept in mind also preventable.The aim of this article is to get the reader to know more about this metabolic phenomenon and possible attitudes towards it.

  7. 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...

  8. Alagille Syndrome

    Science.gov (United States)

    ... Liver Function Tests Clinical Trials Liver Transplant FAQs Medical Terminology Diseases of the Liver Alagille Syndrome Alcohol-Related ... the Liver The Progression of Liver Disease FAQs Medical Terminology HOW YOU CAN HELP Sponsorship Ways to Give ...

  9. Reye Syndrome

    Science.gov (United States)

    ... Liver Function Tests Clinical Trials Liver Transplant FAQs Medical Terminology Diseases of the Liver Alagille Syndrome Alcohol-Related ... the Liver The Progression of Liver Disease FAQs Medical Terminology HOW YOU CAN HELP Sponsorship Ways to Give ...

  10. Turner Syndrome

    Science.gov (United States)

    ... crowding, and osteoporosis (brittle bones). Because of their physical conditions, health concerns, and infertility, some girls and women with TS may have low self- esteem, anxiety, or depression. How is Turner syndrome diagnosed? Physical features may ...

  11. Cushing's Syndrome

    Science.gov (United States)

    ... person cured of Cushing’s syndrome might have some memory loss and slight mental decline. But the change is ... Categories: Family Health, Infants and Toddlers, Kids and Teens, Men, Seniors, WomenTags: acth, adenomas, hormone, sickness September ...

  12. Levator Syndrome

    Science.gov (United States)

    ... Abscess Anorectal Fistula Foreign Objects in the Rectum Hemorrhoids Levator Syndrome Pilonidal Disease Proctitis Rectal Prolapse (See ... out other painful rectal conditions (such as thrombosed hemorrhoids , fissures , or abscesses ). The physical examination is often ...

  13. Alport Syndrome

    Science.gov (United States)

    ... signs and symptoms may differ, based on age, gender and inherited type of Alport syndrome. For example, ... prevention and treatment of kidney disease. The Better Business Bureau Wise Giving Alliance Charity Seal provides the ...

  14. Gilbert's Syndrome

    Science.gov (United States)

    ... not know you have the condition until it's discovered by accident, such as when a blood test ... chemotherapy drug Some protease inhibitors used to treat HIV If you have Gilbert's syndrome, talk to your ...

  15. Potter syndrome

    Science.gov (United States)

    Potter phenotype ... In Potter syndrome, the primary problem is kidney failure. The kidneys fail to develop properly as the baby is ... kidneys normally produce the amniotic fluid (as urine). Potter phenotype refers to a typical facial appearance that ...

  16. Moebius Syndrome

    Science.gov (United States)

    ... delays; high or cleft palate; hearing problems and speech difficulties. Children with Moebius syndrome are unable to move their eyes back and forth. Decreased numbers of muscle fibers have been reported. Deformities of the tongue, jaw, and limbs, such ...

  17. Fraser syndrome

    DEFF Research Database (Denmark)

    Barisic, Ingeborg; Odak, Ljubica; Loane, Maria

    2013-01-01

    Fraser syndrome is a rare autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, laryngeal, and urogenital malformations. We present a population-based epidemiological study using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network of...

  18. Angelman Syndrome

    Science.gov (United States)

    ... therapy for seizures is usually necessary. Physical and occupational therapies, communication therapy, and behavioral therapies are important in allowing individuals with Angelman syndrome to reach their maximum developmental potential. × Treatment There ...

  19. Joubert Syndrome

    Science.gov (United States)

    ... CEP290 . View Full Definition Treatment Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some children. Infants with abnormal breathing ...

  20. Zellweger Syndrome

    Science.gov (United States)

    ... swallow. Some babies will be born with glaucoma, retinal degeneration, and impaired hearing. Jaundice and gastrointestinal bleeding also may occur. Treatment There is no cure for Zellweger syndrome, nor ...

  1. Nephrotic Syndrome

    Science.gov (United States)

    ... your blood — typically with an artificial kidney machine (dialyzer). Chronic kidney disease. Nephrotic syndrome may cause your ... opportunities Reprint Permissions A single copy of these materials may be reprinted for noncommercial personal use only. " ...

  2. Ohtahara Syndrome

    Science.gov (United States)

    ... are more often affected than girls. View Full Definition Treatment Antiepileptic drugs are used to control seizures, but are unfortunately ... Other therapies are symptomatic and supportive. × ... Definition Ohtahara syndrome is a neurological disorder characterized by ...

  3. Usher Syndrome

    Science.gov (United States)

    ... to abnormal development of the vestibular hair cells, sensory cells that detect gravity and head movement. RP ... 3 Ben-Rebeh, I., et al. (2016). Genetic analysis of Tunisian families with Usher syndrome type 1: ...

  4. Eagle's Syndrome

    OpenAIRE

    Pinheiro,Thaís Gonçalves; Soares,Vítor Yamashiro Rocha; Ferreira,Denise Bastos Lage; Raymundo,Igor Teixeira; Nascimento,Luiz Augusto; Oliveira,Carlos Augusto Costa Pires de

    2013-01-01

    Summary 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 diffic...

  5. 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...

  6. Pendred's syndrome

    International Nuclear Information System (INIS)

    Hashmi, M.I.; Cheema, I.A.; Qasim, G.

    2003-01-01

    This report describes Pendred's syndrome in three siblings of a consanguineous marriage, belonging to Rahimyar Khan. The children presented with deafmutism and goiters. The investigations included scintigram, perchlorate discharge test and audiometery. The perchlorate discharge was positive in index case. Bilateral sensorineural hearing defect was detected on Pure Tone Average (PTA) audiometry. Meticulous clinical and laboratory evaluation is mandatory for the detection of rare disorders like Pendred's syndrome. (author)

  7. [Poland's syndrome].

    Science.gov (United States)

    Slezak, R; Sasiadek, M

    2000-08-01

    Poland's syndrome consists of the variable clinical features, but always includes unilateral aplasia of the chest wall muscles and ipsilateral anomalies of upper extremity. The incidence of Poland's syndrome, reported by different authors ranges from 1:10,000 to 1:100,000 and is observed more frequently in males than in females with the right side of the body affected more often than the left. The etiology of this syndrome is still discussed. However most of described cases were sporadic, rare familial incidence of Poland's syndrome were also presented. Therefore different etiologic factors of the Poland's syndrome are taken into account: genetic, vascular compromise during early stages of embriogenesis but also teratogenic effect of environmental xenobiotics (e.g. cigarette smoking by pregnant women). The authors present also the case of 20-years old man with inherited bilateral syndactyly with the right side aplasia of major pectoralis muscle and face asymmetry. The familial history was negative in respect to the features, associated with Poland's syndrome.

  8. What is Metabolic Syndrome?

    Science.gov (United States)

    ... Intramural Research Home / Metabolic Syndrome Metabolic Syndrome Also known as What Is Metabolic syndrome ... metabolic risk factors to be diagnosed with metabolic syndrome. Metabolic Risk Factors A Large Waistline Having a large ...

  9. Loeys-Dietz Syndrome

    Science.gov (United States)

    ... to the signs and symptoms of Loeys-Dietz syndrome. Marfan syndrome is different from Loeys-Dietz syndrome in that the gene mutation which causes Marfan syndrome is in fibrillin-1 (FBN-1), a protein ...

  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. Exogenous Cushing syndrome

    Science.gov (United States)

    Cushing syndrome - corticosteroid induced; Corticosteroid-induced Cushing syndrome; Iatrogenic Cushing syndrome ... Cushing syndrome is a disorder that occurs when your body has a higher than normal level of the hormone ...

  12. Turner Syndrome: Other FAQs

    Science.gov (United States)

    ... Other FAQs Share Facebook Twitter Pinterest Email Print Turner Syndrome: Other FAQs Basic information for topics, such as " ... been diagnosed with Turner syndrome. Now what? Is Turner syndrome inherited? Turner syndrome is usually not inherited, but ...

  13. 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.

  14. 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 ...

  15. Nutcracker syndrome

    International Nuclear Information System (INIS)

    Jolley, Ingrid

    2014-01-01

    Purpose: The purpose of this case study is to highlight the symptoms of the Nutcracker Syndrome (NCS), the methods of clinical investigations and the importance of differential diagnosis. Introduction: The NCS refers to left renal vein entrapment caused by abnormal branching patterns of the superior mesenteric artery from the aorta. 1,2 Clinical case presentation: A 27 years old female presented to the emergency department with complaints of abdominal discomfort, bloating, loose bowel motions and irregular micro-haematuria. The radiologist's report indicated the findings from computed tomography examination to be consistent with anterior NCS. Discussion: In most of the NCS cases the clinical symptoms are non-specific. 3 The syndrome is caused by a vascular disorder, but its clinical manifestation can relate to a wide range of abdominal, urological, endovascular or gynaecological pathologies. 4 Conclusion: Nutcracker Syndrome is a relatively rare disease and underdiagnosed may lead to left renal vein thrombosis

  16. 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.

  17. 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.

  18. Metabolic Syndrome

    Directory of Open Access Journals (Sweden)

    Sevil Ikinci

    2010-10-01

    Full Text Available Metabolic Syndrome is a combination of risk factors including common etiopathogenesis. These risk factors play different roles in occurence of atherosclerotic diseases, type 2 diabetes, and cancers. Although a compromise can not be achieved on differential diagnosis for MS, the existence of any three criterias enable to diagnose MS. These are abdominal obesity, dislipidemia (hypertrigliceridemia, hypercholesterolemia, and reduced high density lipoprotein hypertension, and elevated fasting blood glucose. According to the results of Metabolic Syndrome Research (METSAR, the overall prevalence of MS in Turkey is 34%; in females 40%, and in males it is 28%. As a result of “Western” diet, and increased frequency of obesity, MS is observed in children and in adolescents both in the world and in Turkey. Resulting in chronic diseases, it is thought that the syndrome can be prevented by healthy lifestyle behaviours. [TAF Prev Med Bull 2010; 9(5.000: 535-540

  19. Eagle's Syndrome

    Science.gov (United States)

    Pinheiro, Thaís Gonçalves; Soares, Vítor Yamashiro Rocha; Ferreira, Denise Bastos Lage; Raymundo, Igor Teixeira; Nascimento, Luiz Augusto; Oliveira, Carlos Augusto Costa Pires de

    2013-01-01

    Summary 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. PMID:25992033

  20. 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.

  1. Rapunzel syndrome

    International Nuclear Information System (INIS)

    Al-Wadan, Ali H.; Al-Saai, Azan S.; Abdoulgafour, Mohamed; Al-Absi, Mohamed

    2006-01-01

    An 18-year-old single female patient, presented with non specific gastrointestinal symptoms of anorexia, abdominal pain, and change in bowel habit. Clinically she was anemic, cachectic, and depressed. Abdominal examination revealed mobile epigastric mass. The scalp alopecia and endoscopy coupled by computed tomography scan, confirmed the diagnoses of trichobezoar, but it was not diagnosed as Rapunzel syndrome except after laparotomy, gastrotomy, and enterotomy. There are less than 16 cases of Rapunzel syndrome described worldwide, and this is the first case to be described in the middle east. (author)

  2. 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.

  3. 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.

  4. Eagle syndrome

    International Nuclear Information System (INIS)

    Raina, Deepika; Gothi, Rajesh; Rajan, Sriram

    2009-01-01

    Eagle syndrome occurs due to elongation of the styloid process or calcification of the stylohyoid ligament, which then may produce a pain sensation due the pressure exerted on various structures in the head and neck. When suspected, imaging helps in identifying the abnormally elongated styloid process or the calcified ligament. In recent years, three-dimensional CT (3DCT) has proved to be valuable in these cases. We report the case of a 62-year-old man with this syndrome in whom imaging with 3DCT conclusively established the diagnosis

  5. 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

  6. Fenton's syndrome

    International Nuclear Information System (INIS)

    Rimondi, E.; Albasini, V.

    1989-01-01

    The authors report two recent cases of Fenton's syndrome, a very rare carpal fracture-dislocation. After some anatomophysiopathological considerations and a review of the literature, a wider nosographic frame is proposed in which the entity of the dislocation of the head of capitate bone is not essential. According to both the literature and personal findings, the authors remark that this syndrome is always found in the presence of two morphological variants of the distal radioulnar joint. Finally, the authors stress the importance of a corect diagnosis of this lesion to avoid unnecessary attempts of reduction

  7. Reiter's Syndrome.

    Science.gov (United States)

    Savant, S S; Fernandez, J C; Dhurandhar, M W; Fernandez, R J

    1979-01-01

    A case of Reiter's syndrome occurring in a young mate aged 20 years having extensive skin lesions of keratoderina blenoffhagica is presented along with a review of literature. Although urethritis was absent, other clinical and histopathological features of the cutaneous lesions led us to the diagnosis. The-possible relationship of postural psoriasis to Reiter's syndrome is discussed. Failure of the patient to respond satisfactorily to steroids, antibiotics etc, prompted the use of rnethotrexate in the case. The result was dramatic, as the patient completely recovered within ten days of starting treatment.

  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. Joubert syndrome

    International Nuclear Information System (INIS)

    Villanua, J.A.; Lopez, J.M.; Recondo, J.A.; Garcia, J.M.; Gaztanaga, R.

    1998-01-01

    Joubert syndrome is a rare malformation of the posterior fossa, mainly affecting the cerebellar vermis, which generally appears as a dysplastic lesion. Other structures of the cervico medullary junction may be involved, with accompanying brainstem hypoplasia according to neuroimaging studies. The diagnosis is usually reached during, childhood, based on a constellation of changes in the child's neurological development that are supported by the results of imaging studied. Respiratory problems are the most common signs in newborns,leading to the suspicion of the presence of this syndrome. (Author) 11 refs

  10. 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.

  11. Meigs' Syndrome

    International Nuclear Information System (INIS)

    Baloch, S.; Khaskheli, M.; Farooq, S.

    2006-01-01

    Meigs' syndrome is a rare clinical condition commonly considered to be associated with malignant ovarian tumour. A case of unmarried female is presented who came with a slowly increasing abdominal mass. Clinical and ultrasonic investigations revealed a mobile, solid right adenexal tumour in the lower abdomen, along with ascites and pleural effusion of the right lung. The level of CA 125 was also raised. Diagnosis of Meigs' syndrome was confirmed after surgical intervention. The tumour was successfully removed and pleural effusion disappeared 15 days after the intervention. Cytomorphologic study of both the tumour and ascitic fluid was negative for malignancy. (author)

  12. [Elsberg syndrome].

    Science.gov (United States)

    Nielsen, Kristine Esbjerg; Knudsen, Troels Bygum

    2013-12-16

    A syndrome involving acute urinary retention in combination with sacral radiculitis and cerebrospinal fluid pleocytosis was first described by the American neurosurgeon Charles Elsberg in 1931. In many instances the aetiology is herpes simplex virus type 2 (HSV-2) reactivation from sensory neurons. In this case report we present a 34-year-old pregnant woman with previous undiagnosed sensory lumbosacral symptoms. She was hospitalized with HSV-2 meningitis and lumbosacral radiculitis but no genital rash. A week after the onset of symptoms she developed acute urinary retention, thus indicating Elsberg syndrome.

  13. Marfan syndrome masked by Down syndrome?

    NARCIS (Netherlands)

    Vis, J.C.; Engelen, K. van; Timmermans, J.; Hamel, B.C.J.; Mulder, B.J.

    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.

  14. 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

  15. Do nonbonded H--H interactions in phenanthrene stabilize it relative to anthracene? A possible resolution to this question and its implications for ligands such as 2,2'-bipyridyl.

    Science.gov (United States)

    Hancock, Robert D; Nikolayenko, Igor V

    2012-08-23

    The problem of whether interactions between the hydrogen atoms at the 1,10-positions in the "cleft" of the "bent" phenanthrene stabilize the latter molecule thermodynamically relative to "linear" anthracene, or whether the higher stability of phenanthrene is due to a more energetically favorable π-system, is considered. DFT calculations at the X3LYP/cc-pVTZ(-f)++ level of the ground state energies (E) of anthracene, phenanthrene, and the set of five benzoquinolines are reported. In the gas phase, "bent" phenanthrene was computed to be thermodynamically more stable than "linear" anthracene by -28.5 kJ mol(-1). This fact was attributed predominantly to the phenomenon of higher aromatic stabilization of the π-system of phenanthrene relative to anthracene, and not to the stabilizing influence of the nonbonding H--H interactions in its cleft. In fact, these interactions in phenanthrene were shown to be destabilizing. Similar calculations for five benzoquinolines (bzq) indicate that ΔE values vary as: 6,7-bzq (linear) ≤ 2,3-bzq (linear) < 5,6-bzq (bent) ≤ 3,4-bzq (bent) < 7,8-bzq (bent, no H--H nonbonding interactions in cleft), supporting the idea that it is a more stable π-system that favors 7,8-bzq over 2,3-bzq and 6,7-bzq, and that the H--H interactions in the clefts of 3,4-bzq and 5,6-bzq are destabilizing. Intramolecular hydrogen bonding in the cleft of 7,8-bzq plays a secondary role in its stabilization relative 6,7-bzq. The question of whether H--H nonbonded interactions between H atoms at the 3 and 3' positions of 2,2'-bipyridyl (bpy) coordinated to metal ions are stabilizing or destabilizing is then considered. The energy of bpy is scanned as a function of N-C-C-N torsion angle (χ) in the gas-phase, and it is found that the trans form is 32.8 kJ mol(-1) more stable than the cis conformer. A relaxed coordinate scan of energy of bpy in aqueous solution as a function of χ is modeled using the PBF approach, and it is found that the trans conformer is

  16. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine M; Bodtger, Uffe

    2016-01-01

    This is a systematic review of cases with Lemierre's syndrome (LS) in the past 5 years. LS is characterized by sepsis often evolving after a sore throat or tonsillitis and then complicated by various septic emboli and thrombosis of the internal jugular vein. Symptoms include sepsis, pain, and/or ...... LS in this day and age appears to be low, however the syndrome is difficult to recognize, and still requires the full attention of the clinician.......This is a systematic review of cases with Lemierre's syndrome (LS) in the past 5 years. LS is characterized by sepsis often evolving after a sore throat or tonsillitis and then complicated by various septic emboli and thrombosis of the internal jugular vein. Symptoms include sepsis, pain, and....../or swelling in the throat or neck, as well as respiratory symptoms. Laboratory findings show elevated infectious parameters and radiological findings show thrombosis of the internal jugular vein and emboli in the lungs or other organs. The syndrome is often associated with an infection with Fusobacterium...

  17. Sjogren syndrome

    NARCIS (Netherlands)

    Brito-Zeron, Pilar; Baldini, Chiara; Bootsma, Hendrika; Bowman, Simon J.; Jonsson, Roland; Mariette, Xavier; Sivils, Kathy; Theander, Elke; Tzioufas, Athanasios; Ramos-Casals, Manuel

    2016-01-01

    Sjogren syndrome (SjS) is a systemic autoimmune disease that primarily affects the exocrine glands (mainly the salivary and lacrimal glands) and results in the severe dryness of mucosal surfaces, principally in the mouth and eyes. This disease predominantly affects middle-aged women, but can also be

  18. Rett Syndrome

    Science.gov (United States)

    ... loss of interest in normal play Delayed speech development or loss of previously acquired speech abilities Problem behavior or marked mood swings Any clear loss of previously gained milestones in gross motor or fine motor skills Causes Rett syndrome is a rare genetic disorder. ...

  19. 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.

  20. Piriformis Syndrome

    Science.gov (United States)

    ... can usually resume their normal activities. In some cases, exercise regimens may need to be modified in order to reduce the likelihood of recurrence or worsening. Clinical Trials Throughout the U.S. ... Definition Piriformis syndrome is a rare neuromuscular disorder that ...

  1. Hellp syndrome

    International Nuclear Information System (INIS)

    Chaudhry, A.A.

    2002-01-01

    A 24 years old female presented with hypertension, haemolysis, elevated liver enzymes and thrombocytopenia in an unconscious state after undergoing an emergency caesarian section. A diagnosis of HELLP syndrome was made on the above findings. Patient made an uneventful recovery with conservative management. A brief review of the literature is included along with the case report. (author)

  2. Kartagener's Syndrome.

    Science.gov (United States)

    Dhar, D K; Ganguly, K C; Alam, S; Hossain, A; Sarker, U K; Das, B K; Haque, M J

    2009-01-01

    Kartagener's Syndrome or Immotile Cilia Syndrome, a variant of Primary Ciliary Dyskinesia (PCD), is a rare autosomal recessive genetic disorder caused by defect in the tiny hair like structure, the cilia lining the respiratory tract (upper and lower), sinuses, eustachian tubes, middle ear and fallopian tubes. Here electron microscopy shows abnormal arrangement of ciliary tubules and patients with Kartagener's syndrome has an absence of dynein arms at the base of the cilia. The inability of cilia to move results in inadequate clearance of bacteria from the air passages, resulting in an increased risk of infection and causing bronchiectasis. Another result of ciliary immobility is infertility. A 60 years old lady was diagnosed as a case of Kartagener's syndrome. She had history of chronic cough for 20 years, irregular fever for 20 years and occasional shortness of breath for 5 years. Relevant investigations revealed dextrocardia, situs inversus, bilateral maxillary sinusitis with non pneumatised frontal sinus and bronchiectasis. She was treated with low concentration oxygen inhalation, antibiotic, bronchodilator, chest physiotherapy including postural drainage, vitamins and other supportive treatment.

  3. Carraro syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Wendler, H.; Schwarz, R.

    1980-07-01

    The report concerns a girl aged 9 1/2 years who was deaf and dumb and had marked shortening of the calves with deformities of the feet and bilateral, congenital hypoplasia of the tibiae. This syndrome was first described by Carraro in 1931, but there have been no further reports since then.

  4. 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.…

  5. Alagille Syndrome

    Science.gov (United States)

    ... 3] Kamath BM, Loomes KM, Piccoli DA. Medical management of Alagille syndrome. Journal of Pediatric Gastroenterology and Nutrition. 2010;50(6): ... 30 a.m. to 5 p.m. eastern time, M-F Follow Us NIH… Turning Discovery Into ... Disease Urologic Diseases Endocrine Diseases Diet & Nutrition ...

  6. Kounis syndrome

    African Journals Online (AJOL)

    neoplastic agents), exposure to radiological contrast media, poison ivy, bee stings, shellfish and coronary stents. In addition to coronary arterial involvement, Kounis syndrome com prises other arterial systems with similar physiologies, such as mesenteric and cerebral circulation resulting in ischaemia/infarction of the vital ...

  7. 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.

  8. Crest syndrome

    International Nuclear Information System (INIS)

    Koch, B.; Roedl, W.

    1988-01-01

    If a patient has peri- and intra-articular calcinosis, as well as acro-osteolysis and esophageal hypomotility, and rheumatic symptoms, Crest syndrome should be considered as a manifestation of progressive systemic sclerosis. In connection with relevant symptoms on the skin and visceral involvement, radiological studies offer the possibility of classifying progressive systemic sclerosis more accurately. (orig.) [de

  9. Gitelman syndrome.

    NARCIS (Netherlands)

    Knoers, N.V.A.M.; Levtchenko, E.N.

    2008-01-01

    Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The prevalence is estimated at approximately 1:40,000 and accordingly, the prevalence

  10. Marfan Syndrome

    Science.gov (United States)

    ... can treat many of its symptoms. Thanks to new research and treatments, people with Marfan syndrome who are diagnosed early ... This helps doctors stay on top of any new problems. Doctors might also ... or kids with amblyopia or strabismus will probably need to wear glasses. ...

  11. Kartagener's Syndrome

    African Journals Online (AJOL)

    GB

    presenting with recurrent upper and lower respiratory tract infections, sinusitis or bronchiectasis. Inability to diagnose this condition may subject the patient to unnecessary and repeated hospital admissions, investigations and treatment failure. KEY WORDS: Kartagener's syndrome, primary cilliary dyskinesia, situs inversus, ...

  12. The Hereditary Hyperferritinemia-Cataract Syndrome in 2 Italian Families

    Directory of Open Access Journals (Sweden)

    Katia Perruccio

    2013-01-01

    Full Text Available Two 8- and 9-year-old brothers were referred to the Pediatric Oncology Unit, Perugia General Hospital, because of hyperferritinemia. Both had a history of bilateral cataract and epilepsy. Genetic investigation revealed two distinct mutations in iron haemostasis genes; homozygosity for the HFE gene H63D mutation in the younger and heterozygosity in the elder. Both displayed heterozygosity for C33T mutation in the ferritin light chain iron response element. A 7-year-old boy from another family was referred to our unit because of hyperferritinemia. Genetic analyses did not reveal HFE gene mutations. Family history showed that his mother was also affected by hyperferritinemia without HFE gene mutations. Magnetic resonance imaging in the mother was positive for iron overload in the spleen. Cataract was diagnosed in mother and child. Further genetic investigation revealed the C29G mutation of the ferritin light chain iron response element. C33T and C29G mutations in the ferritin light chain iron response element underlie the Hereditary Hyperferritinemia-Cataract Syndrome (HHCS. The HFE gene H63D mutation underlies Hereditary Haemochromatosis (HH, which needs treatment to prevent organ damages by iron overload. HHCS was definitively diagnosed in all three children. HHCS is an autosomal dominant disease characterized by increased L-ferritin production. L-Ferritin aggregates accumulate preferentially in the lens, provoking bilateral cataract since childhood, as unique known organ damage. Epilepsy in one case and the spleen iron overload in another could suggest the misleading diagnosis of HH. Consequently, the differential diagnosis between alterations of iron storage system was essential, particularly in children, and required further genetic investigation.

  13. Hepatorenal Syndrome

    Directory of Open Access Journals (Sweden)

    Ebru Yilmaz

    2014-06-01

    Full Text Available Hepatorenal syndrome (HRS is functional renal failure that occurs with advanced liver failure. HRS is considered the most severe complication of cirrhosis. Type 1 HRS develops due to severe reduction of effective circulating volume results in hemodynamic dysfunction. Type 1 HRS is characterized by acute renal failure and rapid deterioration in the function of other organs. It can ocur spontaneously or in the setting of a precipitating event. Type 2 hepatorenal syndrome (HRS, which is characterized by slowly progressive renal failure and refractory ascites. Liver transplantation is the only definitive treatment for both type. The most suitable and ldquo;bridge treatments and rdquo; or treatment for patients ineligible for a liver transplant include terlipressin plus albumin. [J Contemp Med 2014; 4(2.000: 106-113

  14. 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+.

  15. 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.

  16. 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.

  17. Paraneoplastiske syndromer

    OpenAIRE

    Røsbekk, Stein Helge

    2007-01-01

    During the last 50 years it has become clear that malignant tumours can induce symptoms unrelated to the mechanical effects of the primary tumour itself or its metastasis. Today, the name Paraneoplastic syndrome is given to those symptom complexes that may affect the blood cells, electrolytes, coagulation system, muscle, skin, nerve and the endocrine system. Endocrine symptoms were first recognised, and different hormones were isolated from the tumour tissue. However, tumour derived hormones ...

  18. Caroli's syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Numan, F; Cokyueksel, O; Camuscu, S; Demir, K; Dueren, M

    1986-07-01

    In 1958 Caroli described the syndrome of congenital, either segmental or involving the entire bile duct system, saccular extensions of the intrahepatic bile ducts. He differentiated between two types of this disease pattern. The first form concerns pure cystic dilatations of the intrahepatic bile ducts, whereas the second one is combined with hepatic fibrosis and portal hypertension. Both types are characterised by cystic dilatations in the kidneys and in the extrahepatic bile ducts, pancreas and spleen.

  19. 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.

  20. Waardenburg syndrome

    OpenAIRE

    Mehta, Manish; Kavadu, Paresh; Chougule, Sachin

    2004-01-01

    We report a case of Waardenburg syndrome in a female child aged 2yrs. Petrus Johannes Waardenburg(1) , a Dutch Ophthalmologist in 1951 described individuals with retinal pigmentary differences who had varying degrees of hearing loss and dystopia canthorum (i.e., latral displacement of inner canthi of eyes). The disease runs in families with a dominant inheritance pattern with varying degree of clinical presentation. Patient usually present with heterochromic iris, pigmentary abnormalities of ...

  1. [PHACES syndrome].

    Science.gov (United States)

    Morcillo Azcárate, J; Bernabeu-Wittel, J; Fernández-Pineda, I; Conejo-Mir, M D; Tuduri Limousin, I; Aspiazu Salinas, D A; de Agustín Asensio, J C

    2010-04-01

    PHACES syndrome associates a segmental facial hemangioma with cerebral malformations, aortic branches/cranial arteries anomalies, cardiac defects, eye anomalies or ventral wall defects. The aim of this study is to analyze our experience with this syndrome. Retrospective study of the cases seen at our unit in the last year. We treat 4 cases; 3 girls and 1 child. Besides the segmental hemangioma they presented: 3 vascular cerebral malformations; 2 structural cardiopathies; 2 cerebral malformations, 1 microftalmia. We did not find ventral wall defects. A case received treatment with two cycles of metilprednisolone i.v. and oral prednisone, with favourable course; two cases received initial treatment with oral prednisone continued of oral propanolol in rising pattern up to 2 mg/kg/day, Obtaining both the detention of the tumour growth and regression of the lesion, with very good tolerance. A 7-year-old patient has been treated with colouring pulse laser for her residual lesions. When we see a segmental facial hemangioma we must perform a wide diagnostic study in order to discard a PHACES syndrome. Multidisciplinar approach to the patient by a wide expert's group gets an earlier diagnose and improves the outcome. Propranolol is a promising therapeutic alternative.

  2. Anserine syndrome.

    Science.gov (United States)

    Helfenstein, Milton; Kuromoto, Jorge

    2010-01-01

    Knee pain is a common complaint in clinical practice, and pes anserinus tendino-bursitis syndrome (PATB) has been frequently diagnosed based only on clinical features that may cause equivocal interpretations. Patients complain of characteristic spontaneous medial knee pain with tenderness in the inferomedial aspect of the joint. Studies with different imaging modalities have been undertaken during the last years to identify whether these patients suffer from bursitis, tendinitis, or both. Nevertheless, little is known regarding the structural defect responsible for this disturbance. Due to these problems and some controversies, we suggest the term "anserine syndrome" for this condition. Diabetes Mellitus is a known predisposing factor for this syndrome. Overweight and osteoarthritis seem to represent additional risk factors; however, their role in the pathophysiology of the disease is not yet understood. Treatment includes non-steroidal anti-inflammatory drugs, physiotherapy, and injections of corticosteroid, with highly variable responses, from 10 days to 36 months to achieve recovery. The lack of knowledge about its epidemiological, etiological, and pathophysiological aspects requires future studies for this common and intriguing disorder.

  3. Neonatal respiratory distress syndrome

    Science.gov (United States)

    Hyaline membrane disease (HMD); Infant respiratory distress syndrome; Respiratory distress syndrome in infants; RDS - infants ... improves slowly after that. Some infants with severe respiratory distress syndrome will die. This most often occurs ...

  4. Toxic shock syndrome

    Science.gov (United States)

    Staphylococcal toxic shock syndrome; Toxic shock-like syndrome; TSLS ... Toxic shock syndrome is caused by a toxin produced by some types of staphylococcus bacteria. A similar problem, called toxic shock- ...

  5. Prune belly syndrome

    Science.gov (United States)

    Eagle-Barrett syndrome; Triad syndrome ... The exact causes of prune belly syndrome are unknown. The condition affects mostly boys. While in the womb, the developing baby's abdomen swells with fluid. Often, the cause is ...

  6. What Causes Cushing's Syndrome?

    Science.gov (United States)

    ... Share Facebook Twitter Pinterest Email Print What causes Cushing syndrome? Cushing syndrome can develop for two reasons: Medication ... uhs ), thyroid, or thymus How Tumors Can Cause Cushing Syndrome Normally, the pituitary gland in the brain controls ...

  7. Genetics Home Reference: antiphospholipid syndrome

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Antiphospholipid syndrome Antiphospholipid syndrome Printable PDF Open All Close All Enable ... area? Other Names for This Condition anti-phospholipid syndrome antiphospholipid antibody syndrome Hughes syndrome Related Information How are ...

  8. Genetics Home Reference: Costello syndrome

    Science.gov (United States)

    ... other genetic conditions, cardiofaciocutaneous syndrome (CFC syndrome) and Noonan syndrome . In affected infants, it can be difficult to ... These individuals may actually have CFC syndrome or Noonan syndrome , which are caused by mutations in related genes. ...

  9. 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

  10. Acute nephritic syndrome

    Science.gov (United States)

    Glomerulonephritis - acute; Acute glomerulonephritis; Nephritis syndrome - acute ... Acute nephritic syndrome is often caused by an immune response triggered by an infection or other disease. Common causes in children ...

  11. Protective mechanism against cancer found in progeria patient cells

    Science.gov (United States)

    NCI scientists have studied cells of patients with an extremely rare genetic disease that is characterized by drastic premature aging and discovered a new protective cellular mechanism against cancer. They found that cells from patients with Hutchinson Gi

  12. Morvan Syndrome

    Science.gov (United States)

    Maskery, Mark; Chhetri, Suresh K.; Dayanandan, Rejith; Gall, Claire

    2016-01-01

    A 74-year-old gentleman was admitted to the regional neurosciences center with encephalopathy, myokymia, and dysautonomia. Chest imaging had previously identified an incidental mass in the anterior mediastinum, consistent with a primary thymic tumor. Antivoltage-gated potassium channel (anti-VGKC) antibodies were positive (titer 1273 pmol/L) and he was hypokalemic. Electromyogram and nerve conduction studies were in keeping with peripheral nerve hyperexcitability syndrome, and an electroencephalogram was consistent with encephalopathy. A diagnosis of Morvan syndrome was made, for which he was initially treated with high-dose steroids, followed by a 5-day course of intravenous immunoglobulin (IVIG) therapy. He also underwent thymectomy, followed by a postexcision flare of his symptoms requiring intensive care management. Further steroids, plasmapheresis, and IVIG achieved stabilization of his clinical condition, enabling transfer for inpatient neurorehabilitation. He was commenced on azathioprine and a prolonged oral steroid taper. A subsequent presumed incipient relapse responded well to further IVIG treatment. This case report documents a thymoma-associated presentation of anti-VGKC-positive Morvan syndrome supplemented by patient and carer narrative and video, both of which provide valuable further insights into this rare disorder. There are a limited number of publications surrounding this rare condition available in the English literature. This, combined with the heterogenous presentation, association with underlying malignancy, response to treatment, and prognosis, provides a diagnostic challenge. However, the association with anti-VGKC antibody-associated complexes and 2 recent case series have provided some scope for both accurate diagnosis and management. PMID:26740856

  13. Jacobsen syndrome

    Directory of Open Access Journals (Sweden)

    Grossfeld Paul

    2009-03-01

    Full Text Available Abstract Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears. Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from ~7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be

  14. Robinow syndrome

    Directory of Open Access Journals (Sweden)

    Suresh S

    2008-01-01

    Full Text Available Robinow syndrome is a rare autosomal recessive mesomelic dwarfism with just more than 100 cases reported in the literature so far. The lower extremity is spared with skeletal deformity usually confined to the forearm, hand, and the dorsal spine. Diagnosis is made easily in the early childhood by the typical "fetal facies" appearance, which disappears to a certain extent as the patient grows. The author reports two cases of this entity with vertebral segmentation defects, rib fusion, and typical severe brachymelia and facial features.

  15. Trichorhinophalangeal syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Tuzovic, S.; Fiebach, B.J.O.; Magnus, L.; Sauerbrei, H.U.

    1982-11-01

    This article reports on 14 cases of a trichorhinophalangeal syndrome in five successive generations. Besides the well-known characteristics of the TRPS the following symptoms observed in this family are new: Teething was considerably delayed, intelligence was reduced, and there were skin manifestations resembling eczema. Besides, struma colli and colitis ulcerosa were also observed. Subsequent observations have to clarify whether these symptoms are a facultative part of the TRPS pattern. The constant appearance of carriers of these characteristics during five generation points to dominant heredity.

  16. Olmsted Syndrome

    Directory of Open Access Journals (Sweden)

    Sirka C

    1999-01-01

    Full Text Available A 20-year-old Sikh man had palmoplantar keratoderma, flexion deformity of digits, universal alopecia, keratotic plaques at the angles of mouth, gluteal cleft, knees and dorsal aspects of the metacarpophalangeal joints of the hand; features of Olmsted syndrome. He had normal nails, teeth, oral mucosa and normal joint movements. Treatment with acitretin, 25mg/day for three and a half months, followed by 25mg once daily alternating with 50mg once daily for 3 months resulted in significant improvement.

  17. Mo-Mo Quintuple Bond is Highly Reactive in H-H, C-H, and O-H σ-Bond Cleavages Because of the Polarized Electronic Structure in Transition State.

    Science.gov (United States)

    Chen, Yue; Sakaki, Shigeyoshi

    2017-04-03

    The recently reported high reactivity of the Mo-Mo quintuple bond of Mo 2 (N ∧ N) 2 (1) {N ∧ N = μ-κ 2 -CH[N(2,6-iPr 2 C 6 H 3 )] 2 } in the H-H σ-bond cleavage was investigated. DFT calculations disclosed that the H-H σ-bond cleavage by 1 occurs with nearly no barrier to afford the cis-dihydride species followed by cis-trans isomerization to form the trans-dihydride product, which is consistent with the experimental result. The O-H and C-H bond cleavages by 1 were computationally predicted to occur with moderate (ΔG° ⧧ = 9.0 kcal/mol) and acceptable activation energies (ΔG° ⧧ = 22.5 kcal/mol), respectively, suggesting that the Mo-Mo quintuple bond can be applied to various σ-bond cleavages. In these σ-bond cleavage reactions, the charge-transfer (CT Mo→XH ) from the Mo-Mo quintuple bond to the X-H (X = H, C, or O) bond and that (CT XH→Mo ) from the X-H bond to the Mo-Mo bond play crucial roles. Though the HOMO (dδ-MO) of 1 is at lower energy and the LUMO + 2 (dδ*-MO) of 1 is at higher energy than those of RhCl(PMe 3 ) 2 (LUMO and LUMO + 1 of 1 are not frontier MO), the H-H σ-bond cleavage by 1 more easily occurs than that by the Rh complex. Hence, the frontier MO energies are not the reason for the high reactivity of 1. The high reactivity of 1 arises from the polarization of dδ-type MOs of the Mo-Mo quintuple bond in the transition state. Such a polarized electronic structure enhances the bonding overlap between the dδ-MO of the Mo-Mo bond and the σ*-antibonding MO of the X-H bond to facilitate the CT Mo→XH and reduce the exchange repulsion between the Mo-Mo bond and the X-H bond. This polarized electronic structure of the transition state is similar to that of a frustrated Lewis pair. The easy polarization of the dδ-type MOs is one of the advantages of the metal-metal multiple bond, because such polarization is impossible in the mononuclear metal complex.

  18. OCULO-CEREBRO-RENAL SYNDROME (LOWE'S SYNDROME)

    Institute of Scientific and Technical Information of China (English)

    1991-01-01

    Oculo-cerebro-renal syndrome (Lowe's syndrome) is characterized by mental and motor retardation, cataract, glaucoma and renal abnormalities. It is an X-linked recessive metabolic disease. Two brothers suffering from Lowe's syndrome are reported. Their mother with lenticular opacities and peculiar facial appearance is in concordance with the obligate carrier. The ocular changes and heridity are discussed.

  19. Cardiorenal syndrome

    Directory of Open Access Journals (Sweden)

    Sabry Omar

    2013-01-01

    Full Text Available Cardiovascular disease is the leading cause of death in patients with chronic kidney disease.  Heart failure may lead to acute kidney injury and vice versa. Chronic kidney disease may affect the clinical outcomes in patients with cardiovascular disorders. Renal impairment with any degree of albuminuria has been increasingly recognized as an independent risk factor for cardiovascular events and heart failure hospitalizations, while chronic heart failure may cause chronic kidney disease. The bidirectional nature of these disorders contributes to the complexity and the composite definitions of cardiorenal syndromes. However, the most important clinical trials in heart failure tend to exclude patients with significant renal dysfunction. The mechanisms whereby renal insufficiency worsens the outcome in heart failure are not known, and several pathways could contribute to the ‘‘vicious heart/kidney circle.’’ Traditionally, renal impairment has been attributed to the renal hypoperfusion due to reduced cardiac output and decreased systemic pressure. The hypovolemia leads to sympathetic activity, increased renin-angiotensin aldosterone pathway, and arginine-vasopressin release. These mechanisms cause fluid and sodium retention, peripheral vasoconstriction, and volume overload. Therapy to improve renal dysfunction, reduce neurohormonal activation and ameliorate renal blood flow could lead to a reduction in mortality and hospitalization in patients with cardiorenal syndrome.

  20. Lowe syndrome

    Directory of Open Access Journals (Sweden)

    Loi Mario

    2006-05-01

    Full Text Available Abstract Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL is a multisystem disorder characterised by anomalies affecting the eye, the nervous system and the kidney. It is a uncommon, panethnic, X-linked disease, with estimated prevalence in the general population of approximately 1 in 500,000. Bilateral cataract and severe hypotonia are present at birth. In the subsequent weeks or months, a proximal renal tubulopathy (Fanconi-type becomes evident and the ocular picture may be complicated by glaucoma and cheloids. Psychomotor retardation is evident in childhood, while behavioural problems prevail and renal complications arise in adolescence. The mutation of the gene OCRL1 localized at Xq26.1, coding for the enzyme phosphatidylinositol (4,5 bisphosphate 5 phosphatase, PtdIns (4,5P2, in the trans-Golgi network is responsible for the disease. Both enzymatic and molecular testing are available for confirmation of the diagnosis and for prenatal detection of the disease. The treatment includes: cataract extraction, glaucoma control, physical and speech therapy, use of drugs to address behavioural problems, and correction of the tubular acidosis and the bone disease with the use of bicarbonate, phosphate, potassium and water. Life span rarely exceeds 40 years.

  1. Cotard Syndrome.

    Science.gov (United States)

    Dieguez, Sebastian

    2018-01-01

    Cotard's syndrome is often described as the delusional belief that one is dead or non-existent. However, Jules Cotard's initial description (1880) of the "delusion of negations" was much richer and also involved delusions and claims of immortality and enormity, feelings of damnation, and illusions of bodily dissolution and transformation. Alternatively conceived as an extreme case of depression, hypochondria, or psychosis, the condition is considered rare and remains poorly understood. Cotard himself provided a taxonomy and several explanations for the condition, focusing on its distinction from classical persecutory delusions and suggesting that it could be a kind of reversed grandiosity. He proposed a psychosensory basis in the dissolution of mental imagery, which he then extended to a more general psychomotor impairment of volition. Other early authors highlighted a disorder of the bodily self, and more recent theories postulated an impairment of right hemispheric functions, leading to perceptual and somatosensory feelings of unreality, which coupled with reasoning impairments and an internalized attributional style led in turn to beliefs of non-existence. However, despite its striking presentation and its relevance to our understanding of self-awareness, Cotard's syndrome remains an elusive condition, rarely reported and poorly researched. © 2018 S. Karger AG, Basel.

  2. KBG syndrome

    Directory of Open Access Journals (Sweden)

    Brancati Francesco

    2006-12-01

    Full Text Available Abstract KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral anomalies and developmental delay. To date, KBG syndrome has been reported in 45 patients. Clinical features observed in more than half of patients that may support the diagnosis are short stature, electroencephalogram (EEG anomalies (with or without seizures and abnormal hair implantation. Cutaneous syndactyly, webbed short neck, cryptorchidism, hearing loss, palatal defects, strabismus and congenital heart defects are less common findings. Autosomal dominant transmission has been observed in some families, and it is predominantly the mother, often showing a milder clinical picture, that transmits the disease. The diagnosis is currently based solely on clinical findings as the aetiology is unknown. The final diagnosis is generally achieved after the eruption of upper permanent central incisors at 7–8 years of age when the management of possible congenital anomalies should have been already planned. A full developmental assessment should be done at diagnosis and, if delays are noted, an infant stimulation program should be initiated. Subsequent management and follow-up should include an EEG, complete orthodontic evaluation, skeletal investigation with particular regard to spine curvatures and limb asymmetry, hearing testing and ophthalmologic assessment.

  3. Elsberg syndrome

    Science.gov (United States)

    Savoldi, Filippo; Kaufmann, Timothy J.; Flanagan, Eoin P.; Toledano, Michel

    2017-01-01

    Objective: Elsberg syndrome (ES) is an established but often unrecognized cause of acute lumbosacral radiculitis with myelitis related to recent herpes virus infection. We defined ES, determined its frequency in patients with cauda equina syndrome (CES) with myelitis, and evaluated its clinical, radiologic, and microbiologic features and outcomes. Methods: We searched the Mayo Clinic medical records for ES and subsequently for combinations of index terms to identify patients with suspected CES and myelitis. Results: Our search yielded 30 patients, 2 diagnosed with ES and an additional 28 with clinical or radiologic evidence of CES retrospectively suspected of having ES. We classified patients in 5 groups according to diagnostic certainty. MRI and EMG confirmed that 2 had only myelitis, 5 only radiculitis, and 16 both. Two had preceding sacral herpes infection and 1 oral herpes simplex. Spinal cord lesions were commonly multiple, discontinuous, not expansile, and centrally or ventrally positioned. Lesions generally spared the distal conus. Nerve root enhancement was occasionally prominent and was smooth rather than nodular. Lymphocytic CSF pleocytosis was common. Thirteen patients (43%) had viral isolation studies, which were commonly delayed; the delay may have accounted for the low rate of viral detection. Acyclovir was administered to 6 patients. Most patients recovered with sequelae; 1 patient experienced encephalomyelitis and died. Conclusion: ES is a definable condition likely responsible for 10% of patients with combined CES and myelitis. Radiologic findings are not entirely specific but may help in differentiating ES from some competing diagnostic considerations. We propose criteria to facilitate diagnosis. PMID:28534040

  4. Sotos syndrome

    Directory of Open Access Journals (Sweden)

    Cormier-Daire Valérie

    2007-09-01

    Full Text Available 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 including hypotonia and feeding difficulties, and facial gestalt. Other inconstant clinical abnormalities include scoliosis, cardiac and genitourinary anomalies, seizures and brisk deep tendon reflexes. Variable delays in cognitive and motor development are also observed. The syndrome may also be associated with an increased risk of tumors. Mutations and deletions of the NSD1 gene (located at chromosome 5q35 and coding for a histone methyltransferase implicated in transcriptional regulation are responsible for more than 75% of cases. FISH analysis, MLPA or multiplex quantitative PCR allow the detection of total/partial NSD1 deletions, and direct sequencing allows detection of NSD1 mutations. The large majority of NSD1 abnormalities occur de novo and there are very few familial cases. Although most cases are sporadic, several reports of autosomal dominant inheritance have been described. Germline mosaicism has never been reported and the recurrence risk for normal parents is very low (

  5. Marfan Syndrome (For Parents)

    Science.gov (United States)

    ... en español Síndrome de Marfan What Is Marfan Syndrome? Marfan syndrome is a genetic disorder of the body's ... bones , blood vessels, and organs. What Causes Marfan Syndrome? Marfan syndrome happens because of an abnormality in one ...

  6. Burnout Syndrome of Teachers

    OpenAIRE

    Semrádová, Michaela

    2013-01-01

    The bachelor's thesis covers burnout syndrome of teachers. Defines burnout syndrome, describes its causes and symptoms. Describes teaching as helping profession and focousing on stressful situations at school. In the last chapter described different prevention strategies burnout syndrome. Key words: burnout syndrome, teaching, teacher, helping professions, beginning teacher, stress

  7. Turner Syndrome (For Teens)

    Science.gov (United States)

    ... Staying Safe Videos for Educators Search English Español Turner Syndrome KidsHealth / For Teens / Turner Syndrome What's in this ... en español El síndrome de Turner What Is Turner Syndrome? Turner syndrome (TS) is a genetic condition found ...

  8. Genetics Home Reference: Smith-Magenis syndrome

    Science.gov (United States)

    ... 22 [updated 2012 Jun 28]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  9. Genetics Home Reference: Wiskott-Aldrich syndrome

    Science.gov (United States)

    ... 30 [updated 2016 Sep 22]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  10. Genetics Home Reference: Townes-Brocks Syndrome

    Science.gov (United States)

    ... 24 [updated 2016 Jan 14]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  11. Genetics Home Reference: tetra-amelia syndrome

    Science.gov (United States)

    ... 28 [updated 2012 Aug 2]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  12. Genetics Home Reference: Weill-Marchesani syndrome

    Science.gov (United States)

    ... 1 [updated 2013 Feb 14]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  13. Genetics Home Reference: Treacher Collins syndrome

    Science.gov (United States)

    ... 20 [updated 2012 Aug 30]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  14. Genetics Home Reference: Holt-Oram syndrome

    Science.gov (United States)

    ... 20 [updated 2015 Oct 8]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  15. Genetics Home Reference: Alpers-Huttenlocher syndrome

    Science.gov (United States)

    ... Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens ... Influence of mitochondrial DNA level on cellular energy metabolism: implications for mitochondrial diseases. J Bioenerg Biomembr. 2008 ...

  16. Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).

    Science.gov (United States)

    Elouej, Sahar; Beleza-Meireles, Ana; Caswell, Richard; Colclough, Kevin; Ellard, Sian; Desvignes, Jean Pierre; Béroud, Christophe; Lévy, Nicolas; Mohammed, Shehla; De Sandre-Giovannoli, Annachiara

    2017-06-01

    Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) is an autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, a characteristic facial appearance and metabolic abnormalities. This syndrome is caused by heterozygous de novo mutations in the POLD1 gene. To date, 19 patients with MDPL have been reported in the literature and among them 14 patients have been characterized at the molecular level. Twelve unrelated patients carried a recurrent in-frame deletion of a single codon (p.Ser605del) and two other patients carried a novel heterozygous mutation in exon 13 (p.Arg507Cys). Additionally and interestingly, germline mutations of the same gene have been involved in familial polyposis and colorectal cancer (CRC) predisposition. We describe a male and a female patient with MDPL respectively affected with mild and severe phenotypes. Both of them showed mandibular hypoplasia, a beaked nose with bird-like facies, prominent eyes, a small mouth, growth retardation, muscle and skin atrophy, but the female patient showed such a severe and early phenotype that a first working diagnosis of Hutchinson-Gilford Progeria was made. The exploration was performed by direct sequencing of POLD1 gene exon 15 in the male patient with a classical MDPL phenotype and by whole exome sequencing in the female patient and her unaffected parents. Exome sequencing identified in the latter patient a de novo heterozygous undescribed mutation in the POLD1 gene (NM_002691.3: c.3209T>A), predicted to cause the missense change p.Ile1070Asn in the ZnF2 (Zinc Finger 2) domain of the protein. This mutation was not reported in the 1000 Genome Project, dbSNP and Exome sequencing databases. Furthermore, the Isoleucine1070 residue of POLD1 is highly conserved among various species, suggesting that this substitution may cause a major impairment of POLD1 activity. For the second patient, affected with a typical MDPL phenotype, direct sequencing

  17. Understanding Bartter syndrome and Gitelman syndrome.

    Science.gov (United States)

    Fremont, Oliver T; Chan, James C M

    2012-02-01

    We aim to review the clinical features of two renal tubular disorders characterized by sodium and potassium wasting: Bartter syndrome and Gitelman syndrome. Selected key references concerning these syndromes were analyzed, together with a PubMed search of the literature from 2000 to 2011. The clinical features common to both conditions and those which are distinct to each syndrome were presented. The new findings on the genetics of the five types of Bartter syndrome and the discrete mutations in Gitelman syndrome were reviewed, together with the diagnostic workup and treatment for each condition. Patients with Bartter syndrome types 1, 2 and 4 present at a younger age than classic Bartter syndrome type 3. They present with symptoms, often quite severe in the neonatal period. Patients with classic Bartter syndrome type 3 present later in life and may be sporadically asymptomatic or mildly symptomatic. The severe, steady-state hypokalemia in Bartter syndrome and Gitelman syndrome may abruptly become life-threatening under certain aggravating conditions. Clinicians need to be cognizant of such renal tubular disorders, and promptly treat at-risk patients.

  18. Superior Mesenteric Artery Syndrome or Wilkie Syndrome

    International Nuclear Information System (INIS)

    Castano Llano, Rodrigo; Chams Anturi, Abraham; Arango Vargas, Paula

    2009-01-01

    We described three cases of superior mesenteric artery (SMA) syndrome, also known as Wilkie's syndrome, chronic duodenal ileus, or cast syndrome. This syndrome occurs when the third portion of the duodenum is compressed between the SMA and the aorta. The major risk factors for development of SMA syndrome are rapid weight loss and surgical correction of spinal deformities. The clinical presentation of SMA syndrome is variable and nonspecific, including nausea, vomiting, abdominal pain, and weight loss. The diagnosis is based on endoscopic, radiographic and tomographic findings of duodenal compression by the SMA. The treatment of SMA syndrome is aimed at the precipitating factor, which usually is related to weight loss. Therefore, conservative therapy with nutritional supplementation is the initial approach, and surgery is reserved for those who do not respond to nutritional therapy.

  19. [Syndrome X vs metabolic syndrome].

    Science.gov (United States)

    Morales Villegas, Enrique

    2006-01-01

    Himsworth in 1939 postulated that Diabetes Mellitus type 2 (DM2) was not only an insulin deficiency state but also a cellular insulin insensitivity disease. Thirty years later, DeFronzo and Reaven demonstrated that insulin resistance (IR) preceded and predisposed for DM2 and atherosclerotic-cardiovascular-disease (ACVD). Reaven was the first to point out the relationship between IR and with hyperglycemia, dyslipidosis, and hypertension as mediators for ACVD, creating the concept of Syndrome X (SX) in 1988. WHO and, thereafter, other medical societies and medical groups, mainly ATP-III, in 2002, based on the difficulty of diagnosing IR in a simple, reliable, and inexpensive way, proposed and published the Metabolic Syndrome (MS) concept, as a group of five variables, i.e., obesity, hyperglycemia, hypertriglyceridemia, low HDL, and hypertension, as an easy clinical approximation to suspect and treat an increased cardiometabolic risk. Nowadays, there are deep and extensive controversies on this issue; however, these controversies do not really exist since all discordant points of view are rather quantitative and not qualitative in nature. This article is aimed at differentiating and harmonizing the complementary concepts of SX and MS, at analyzing why MS is a good "clinical window" to look for IR and its underlying manifestations, and finally to accept that the MS concept complements, but does not substitute or antagonize, traditional scales used to asses cardiovascular risk, such as the Framingham scale.

  20. Metabolic Syndrome: Polycystic Ovary Syndrome.

    Science.gov (United States)

    Mortada, Rami; Williams, Tracy

    2015-08-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous condition characterized by androgen excess, ovulatory dysfunction, and polycystic ovaries. It is the most common endocrinopathy among women of reproductive age, affecting between 6.5% and 8% of women, and is the most common cause of infertility. Insulin resistance is almost always present in women with PCOS, regardless of weight, and they often develop diabetes and metabolic syndrome. The Rotterdam criteria are widely used for diagnosis. These criteria require that patients have at least two of the following conditions: hyperandrogenism, ovulatory dysfunction, and polycystic ovaries. The diagnosis of PCOS also requires exclusion of other potential etiologies of hyperandrogenism and ovulatory dysfunction. The approach to PCOS management differs according to the presenting symptoms and treatment goals, particularly the patient's desire for pregnancy. Weight loss through dietary modifications and exercise is recommended for patients with PCOS who are overweight. Oral contraceptives are the first-line treatment for regulating menstrual cycles and reducing manifestations of hyperandrogenism, such as acne and hirsutism. Clomiphene is the first-line drug for management of anovulatory infertility. Metformin is recommended for metabolic abnormalities such as prediabetes, and a statin should be prescribed for cardioprotection if the patient meets standard criteria for statin therapy. Written permission from the American Academy of Family Physicians is required for reproduction of this material in whole or in part in any form or medium.

  1. Syndromes with supernumerary teeth.

    Science.gov (United States)

    Lubinsky, Mark; Kantaputra, Piranit Nik

    2016-10-01

    While most supernumerary teeth are idiopathic, they can be associated with a number of Mendelian syndromes. However, this can also be a coincidental finding, since supernumerary teeth occur in 6% or more of the normal population. To better define this relationship, we analyzed the evidence for specific associations. We excluded conditions with a single affected patient reported, supernumerary teeth adjacent to clefts or other forms of alveolar disruption (as secondary rather than primary findings), and natal teeth, which can involve premature eruption of a normal tooth. Since, the cause of supernumerary teeth shows considerable heterogeneity, certain findings are less likely to be coincidental, such as five or more supernumerary teeth in a single patient, or locations outside of the premaxilla. We found only eight genetic syndromes with strong evidence for an association: cleidocranial dysplasia; familial adenomatous polyposis; trichorhinophalangeal syndrome, type I; Rubinstein-Taybi syndrome; Nance-Horan syndrome; Opitz BBB/G syndrome; oculofaciocardiodental syndrome; and autosomal dominant Robinow syndrome. There is also suggestive evidence of an association with two uncommon disorders, Kreiborg-Pakistani syndrome (craniosynostosis and dental anomalies), and insulin-resistant diabetes mellitus with acanthosisnigricans. An association of a Mendelian disorder with a low frequency manifestation of supernumerary teeth is difficult to exclude without large numbers, but several commonly cited syndromes lacked evidence for clear association, including Hallermann-Streiff syndrome, Fabry disease, Ehlers-Danlos syndrome, Apert and Crouzon syndromes, Zimmermann-Laband syndrome, and Ellis-van Creveld syndrome. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  2. Gorlin's syndrome.

    Science.gov (United States)

    Ramsden, R T; Barrett, A

    1975-06-01

    The uncommon familial syndrome of multiple odontogenic keratocysts, basal cell naevi and skeletal anomalies is reviewed, and seven cases are described, including one patient who developed squamous cell carcinoma in a previous odontogenic keratocyst of the maxilla. We wish to thank Consultants from the Royal National Throat, Nose and Ear Hospital, The Middlesex Hospital and the Eastman Dental Hospital, who allowed us access to their patients; Mr. D. Garfield Davies, Dr. M. F. Spittle, Mr. D. Winstock, Mr. H. P. Cook, Professor H. C. Killey and Mr. L. W. Kay. We are grateful to Professor L. Michaels and Mr. D. J. Connolly for preparation of the illustrations and to Mrs. A. Matthews for the typescript.

  3. HEPATORENAL SYNDROME

    Directory of Open Access Journals (Sweden)

    Matjaž Hafner

    2001-12-01

    Full Text Available Background. Hepatorenal syndrome (HRS is acommon complication of advanced hepatic disease characterizedby marked abnormalities in arterial circulation and byrenal failure. An extreme arteriolar vasodilatation located inthe splanchnic circulation results in a reduction of total systemicvascular resistence and arterial hypotension. Vasoconstrictionoccurs in the renal circulation as in all other extrasplanchnicvascular territories. In the kidney, marked renalvasoconstriction results in a low glomerular filtration rate.Conclusions. The diagnosis of HRS is currently based on exclusionof other causes of renal failure. Prognosis of patientswith HRS is very poor. Liver transplantation is the best therapeuticoption, but it is seldom applicable due to the short survivalexpectancy of most patients with HRS, particularly thosewith the rapidly progressive type of HRS. New therapies developedduring the last few years, such as the use of systemicvasoconstrictors or transjugular intrahepatic portosystemicshunts (TIPS appear promising. Such treatments are of interestnot only as a bridge to liver transplantation but also as atherapy for patients who are not candidates for transplantation.

  4. Noonan syndrome

    Directory of Open Access Journals (Sweden)

    van der Burgt Ineke

    2007-01-01

    Full Text Available Abstract 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 posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency and lymphatic dysplasias. The syndrome is transmitted as an autosomal dominant trait. In approximately 50% of cases, the disease is caused by missense mutations in the PTPN11 gene on chromosome 12, resulting in a gain of function of the non-receptor protein tyrosine phosphatase SHP-2 protein. Recently, mutations in the KRAS gene have been identified in a small proportion of patients with NS. A DNA test for mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. NS should be considered in all foetuses with polyhydramnion, pleural effusions, oedema and increased nuchal fluid with a normal karyotype. With special care and counselling, the majority of children with NS will grow up and function normally in the adult world. Management should address feeding problems in early childhood, evaluation of cardiac function and assessment of growth and motor development. Physiotherapy and/or speech therapy should be offered if indicated. A complete eye examination and hearing evaluation should be performed during the first few years of schooling. Preoperative coagulation studies are indicated. Signs and symptoms lessen with age and most adults with NS do not require special medical care.

  5. A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.

    Science.gov (United States)

    Ballew, Bari J; Joseph, Vijai; De, Saurav; Sarek, Grzegorz; Vannier, Jean-Baptiste; Stracker, Travis; Schrader, Kasmintan A; Small, Trudy N; O'Reilly, Richard; Manschreck, Chris; Harlan Fleischut, Megan M; Zhang, Liying; Sullivan, John; Stratton, Kelly; Yeager, Meredith; Jacobs, Kevin; Giri, Neelam; Alter, Blanche P; Boland, Joseph; Burdett, Laurie; Offit, Kenneth; Boulton, Simon J; Savage, Sharon A; Petrini, John H J

    2013-08-01

    Dyskeratosis congenita (DC) is a heterogeneous inherited bone marrow failure and cancer predisposition syndrome in which germline mutations in telomere biology genes account for approximately one-half of known families. Hoyeraal Hreidarsson syndrome (HH) is a clinically severe variant of DC in which patients also have cerebellar hypoplasia and may present with severe immunodeficiency and enteropathy. We discovered a germline autosomal recessive mutation in RTEL1, a helicase with critical telomeric functions, in two unrelated families of Ashkenazi Jewish (AJ) ancestry. The affected individuals in these families are homozygous for the same mutation, R1264H, which affects three isoforms of RTEL1. Each parent was a heterozygous carrier of one mutant allele. Patient-derived cell lines revealed evidence of telomere dysfunction, including significantly decreased telomere length, telomere length heterogeneity, and the presence of extra-chromosomal circular telomeric DNA. In addition, RTEL1 mutant cells exhibited enhanced sensitivity to the interstrand cross-linking agent mitomycin C. The molecular data and the patterns of inheritance are consistent with a hypomorphic mutation in RTEL1 as the underlying basis of the clinical and cellular phenotypes. This study further implicates RTEL1 in the etiology of DC/HH and immunodeficiency, and identifies the first known homozygous autosomal recessive disease-associated mutation in RTEL1.

  6. A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.

    Directory of Open Access Journals (Sweden)

    Bari J Ballew

    2013-08-01

    Full Text Available Dyskeratosis congenita (DC is a heterogeneous inherited bone marrow failure and cancer predisposition syndrome in which germline mutations in telomere biology genes account for approximately one-half of known families. Hoyeraal Hreidarsson syndrome (HH is a clinically severe variant of DC in which patients also have cerebellar hypoplasia and may present with severe immunodeficiency and enteropathy. We discovered a germline autosomal recessive mutation in RTEL1, a helicase with critical telomeric functions, in two unrelated families of Ashkenazi Jewish (AJ ancestry. The affected individuals in these families are homozygous for the same mutation, R1264H, which affects three isoforms of RTEL1. Each parent was a heterozygous carrier of one mutant allele. Patient-derived cell lines revealed evidence of telomere dysfunction, including significantly decreased telomere length, telomere length heterogeneity, and the presence of extra-chromosomal circular telomeric DNA. In addition, RTEL1 mutant cells exhibited enhanced sensitivity to the interstrand cross-linking agent mitomycin C. The molecular data and the patterns of inheritance are consistent with a hypomorphic mutation in RTEL1 as the underlying basis of the clinical and cellular phenotypes. This study further implicates RTEL1 in the etiology of DC/HH and immunodeficiency, and identifies the first known homozygous autosomal recessive disease-associated mutation in RTEL1.

  7. Goldenhar Syndrome in Association with Duane Syndrome

    Directory of Open Access Journals (Sweden)

    U D Shrestha

    2012-03-01

    Full Text Available Goldenhar syndrome (GHS is also known as Oculo-Auriculo-Vertebral (OAV syndrome or Branchial arch syndrome. Duane retraction syndrome (DRS is a congenital disorder of ocular motility characterized by limited abduction, adduction or both. It is unilateral in 80% of cases. The important and interesting part of this eight months old child is presence of GHS with DRS. She has bilateral invol-vement, which is seen in only 5-8% of GHS, as compared to high incidence of unilateral involve-ment. This child also had refractive error of + 6.00/ - 1.5 * 180. At four year of age her vision with glass was 6/9. Children with GHS and DRS should have early eye examination done to treat the problem of refractive error. Keywords: Duane retraction syndrome; goldenhar syndrome, refractive error.

  8. Gitelman syndrome

    Directory of Open Access Journals (Sweden)

    Levtchenko Elena N

    2008-07-01

    Full Text Available Abstract Gitelman syndrome (GS, also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The prevalence is estimated at approximately 1:40,000 and accordingly, the prevalence of heterozygotes is approximately 1% in Caucasian populations, making it one of the most frequent inherited renal tubular disorders. In the majority of cases, symptoms do not appear before the age of six years and the disease is usually diagnosed during adolescence or adulthood. Transient periods of muscle weakness and tetany, sometimes accompanied by abdominal pain, vomiting and fever are often seen in GS patients. Paresthesias, especially in the face, frequently occur. Remarkably, some patients are completely asymptomatic except for the appearance at adult age of chondrocalcinosis that causes swelling, local heat, and tenderness over the affected joints. Blood pressure is lower than that in the general population. Sudden cardiac arrest has been reported occasionally. In general, growth is normal but can be delayed in those GS patients with severe hypokalemia and hypomagnesemia. GS is transmitted as an autosomal recessive trait. Mutations in the solute carrier family12, member 3 gene, SLC12A3, which encodes the thiazide-sensitive NaCl cotransporter (NCC, are found in the majority of GS patients. At present, more than 140 different NCC mutations throughout the whole protein have been identified. In a small minority of GS patients, mutations in the CLCNKB gene, encoding the chloride channel ClC-Kb have been identified. Diagnosis is based on the clinical symptoms and biochemical abnormalities (hypokalemia, metabolic alkalosis, hypomagnesemia and hypocalciuria. Bartter syndrome (especially type III is the most important genetic disorder to consider in the differential diagnosis of GS. Genetic counseling is important. Antenatal diagnosis for GS

  9. Burning Mouth Syndrome and "Burning Mouth Syndrome".

    Science.gov (United States)

    Rifkind, Jacob Bernard

    2016-03-01

    Burning mouth syndrome is distressing to both the patient and practitioner unable to determine the cause of the patient's symptoms. Burning mouth syndrome is a diagnosis of exclusion, which is used only after nutritional deficiencies, mucosal disease, fungal infections, hormonal disturbances and contact stomatitis have been ruled out. This article will explore the many causes and treatment of patients who present with a chief complaint of "my mouth burns," including symptomatic treatment for those with burning mouth syndrome.

  10. Hepatorenal Syndrome

    Directory of Open Access Journals (Sweden)

    Pınar Zeyneloğlu

    2012-04-01

    Full Text Available Renal failure is a common major complication in patients with advanced cirrhosis and generally indicates a poor prognosis when combined with liver failure. Hepatorenal syndrome (HRS is characterised by a combination of disturbances in circulatory and kidney function. Arterial pressure is decreased in the systemic circulation due to reduced total systemic vascular resistance. Kidney dysfunction is caused by reduction in renal blood flow. The diagnosis of HRS is based on exclusion of other disorders that cause acute kidney injury in cirrhosis as there are no specific tests. There are two types of HRS with different characteristics and prognostics. Liver transplantation is the treatment of choice for all patients without contraindication. The best approach to the pharmacologic management is the administration vasoconstrictor drugs based on the pathogenesis. Many vasoconstrictors including vasopressin analogues (terlipressin, ornipressin and vasopressin, somatostatin analogues (octreotide and alpha-adrenergic analogues (midodrine and norepinephrine have been studied. In most of the studies intravenous albumin therapy was coadministered with vasoconstrictor drugs and suggested that albumin should be considered as the component of pharmacologic intervention in patients with HRS. Renal replacement therapy in the form of hemodialysis or continuous venovenous hemofiltration has been used in the management of HRS patients awaiting transplantation or in those with acute potentially reversible conditions. The artificial hepatic support systems require further investigation. (Journal of the Turkish Society Intensive Care 2012; 10: 37-44

  11. Pseudohypopituitary syndromes.

    Science.gov (United States)

    Heinze, E; Holl, R W

    1992-07-01

    In a child with short stature, the finding of normal or elevated GH levels in the presence of low concentrations of IGF-I raises the following possibilities. (1) A modification of the GH molecule, which is still detected by RIA, but inactive biologically. Therefore, an RRA or bioassay for hGH should result in considerably lower GH measurements compared with RIA determinations in the same sample. As both bioassays as well as RRAs are not widely available and are hampered by several difficulties, few children with this presumptive diagnosis have been described. So far, it has not been possible to define a specific molecular defect in one of these patients. (2) Abnormalities of the GH receptor or postreceptor mechanisms lead to a GH insensitivity syndrome. Laron-type dwarfism is usually due to a deletion in the gene for hepatic GH receptors: the serum binding protein for GH is absent. In three additional populations, the Pygmies of Zaire, the little women of Loja in Ecuador and the Mountain Ok people in Papua New Guinea, alterations of GH receptor function have been described. Finally, some reports describe patients with normal or elevated serum levels of both growth hormone and IGF-I in whom resistance to IGF has been implied in the pathogenesis of small stature.

  12. Hepatorenal syndrome.

    Science.gov (United States)

    Papper, S

    1980-01-01

    Renal failure without apparent cause (the hepatorenal syndrome) may develop in the course of cirrhosis of the liver. While the development of renal failure bears a poor prognosis, spontaneous recovery can occur. The data suggest that for the most part patients die in rather than of renal failure. The latter seems to be only part of a broader more fundamental disturbance. The pathogenesis of HRS is unknown, but the evidence supports an impairment of effective renal perfusion. The two major hypotheses concerning the nature of the impaired perfusion are that it is a physiologic response to alterations in the extrarenal circulation, and that there is an unidentified humoral agent(s) produced by or inadequately inactivated by or bypassing the diseased liver and causing circulatory changes in the kidney as well as in other organs. It is possible that both mechanisms are operative. Treatment is unsatisfactory and emphasis is presently best placed upon searching for more treatable causes of renal functional impairment in individual patients.

  13. Terlipressin for hepatorenal syndrome

    DEFF Research Database (Denmark)

    Gluud, Lise Lotte; Christensen, Kurt; Christensen, Erik

    2012-01-01

    Clinical trials suggest that terlipressin improves renal function in hepatorenal syndrome, but the evidence concerning mortality is equivocal.......Clinical trials suggest that terlipressin improves renal function in hepatorenal syndrome, but the evidence concerning mortality is equivocal....

  14. Chinese restaurant syndrome

    Science.gov (United States)

    Chinese restaurant syndrome is a set of symptoms that some people have after eating Chinese food. A food additive ... Chinese restaurant syndrome is most often diagnosed based on the symptoms. The health care provider may ask the following ...

  15. Obesity hypoventilation syndrome (OHS)

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000085.htm Obesity hypoventilation syndrome (OHS) To use the sharing features on this page, please enable JavaScript. Obesity hypoventilation syndrome (OHS) is a condition in some ...

  16. Hermansky-Pudlak syndrome

    Directory of Open Access Journals (Sweden)

    Preena A

    2017-04-01

    Full Text Available Hermansky-Pudlak syndrome is a rare autosomal recessive multisystem disease, with oculocutneous albinism, pulmonary fibrosis and bleeding diathesis. Here we report a case of Hermansky-Pudlak syndrome who presented with dyspnea, oculocutaneous albinism and nystagmus.

  17. Marfan syndrome (image)

    Science.gov (United States)

    Marfan syndrome is a disorder of connective tissue which causes skeletal defects typically recognized in a tall, lanky person. A person with Marfan syndrome may exhibit long limbs and spider-like fingers, ...

  18. Acute respiratory distress syndrome

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/000103.htm Acute respiratory distress syndrome To use the sharing features on this page, please enable JavaScript. Acute respiratory distress syndrome (ARDS) is a life-threatening lung ...

  19. Oculoauriculovertebral dysplasia (Goldenhar's syndrome).

    Science.gov (United States)

    Nkrumah, F K

    1971-03-01

    A case of Goldenhar's Syndrome or Oculoauriculovertebral dysplasia in a Ghanaian infant is described. Significant were the additional findings of congenital esophageal atresia and arthrogryposis which have so far not been reported in association with the syndrome.

  20. Guillain-Barre Syndrome

    Science.gov (United States)

    Guillain-Barre syndrome is a rare disorder that causes your immune system to attack your peripheral nervous system (PNS). The PNS ... your brain. No one knows what causes the syndrome. Sometimes it is triggered by an infection, surgery, ...

  1. Carpal Tunnel Syndrome

    Science.gov (United States)

    ... a passing cramp? It could be carpal tunnel syndrome. The carpal tunnel is a narrow passageway of ... three times more likely to have carpal tunnel syndrome than men. Early diagnosis and treatment are important ...

  2. Polycystic Ovary Syndrome

    Science.gov (United States)

    Polycystic ovary syndrome (PCOS) happens when a woman's ovaries or adrenal glands produce more male hormones than normal. PCOS causes cysts ( ... PCOS are at higher risk of diabetes, metabolic syndrome, heart disease, and high blood pressure. PCOS is ...

  3. Hyperimmunoglobulin E syndrome

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/001311.htm Hyperimmunoglobulin E syndrome To use the sharing features on this page, please enable JavaScript. Hyperimmunoglobulin E syndrome is a rare, inherited disease. It causes ...

  4. Holmes-Adie Syndrome

    Science.gov (United States)

    ... other diseases of the nervous system, such as Sjogren’s syndrome or migraine. It is most often seen in ... other diseases of the nervous system, such as Sjogren’s syndrome or migraine. It is most often seen in ...

  5. The obstetric antiphospholipid syndrome

    NARCIS (Netherlands)

    Derksen, R. H. W. M.; de Grootb, Ph. G.

    The association of persistent presence of circulating antiphospholipid antibodies and thromboembolic events, (recurrent) pregnancy loss or both is termed antiphospholipid syndrome. Pregnancies in women with the syndrome should be regarded as at high-risk for complications. Optimal management

  6. Tics and Tourette Syndrome

    Science.gov (United States)

    ... for Nausea and Vomiting Home Diseases and Conditions Tics and Tourette Syndrome Condition Tics and Tourette Syndrome Share Print Table of Contents1. ... little or no control over. These are called tics. Several different tics can happen at the same ...

  7. Down Syndrome (For Kids)

    Science.gov (United States)

    ... Changed What's Life Like for Kids With Down Syndrome? Print en español El síndrome de Down You have probably seen people who have Down syndrome. They have certain physical features, such as a ...

  8. Hantavirus Pulmonary Syndrome (HPS)

    Science.gov (United States)

    ... to Yosemite FAQ: Non-U.S. Visitors to Yosemite History of HPS Related Links Prevent Rodent Infestations Cleaning Up After Rodents Diseases From Rodent Hantavirus Pulmonary Syndrome (HPS) Recommend on Facebook Tweet Share Compartir Hantavirus Pulmonary Syndrome (HPS) is ...

  9. Ramsay Hunt syndrome

    Science.gov (United States)

    Hunt syndrome; Herpes zoster oticus; Geniculate ganglion zoster; Geniculate herpes; Herpetic geniculate ganglionitis ... The varicella-zoster virus that causes Ramsay Hunt syndrome is the same virus that causes chickenpox and ...

  10. Moebius Syndrome Foundation

    Science.gov (United States)

    ... craniofacial/neurological disorder. Individuals with Moebius syndrome cannot smile or frown, and do not have lateral eye ... the organization to ensure that they are in line with the mission of the Moebius Syndrome Foundation. ...

  11. Burning Mouth Syndrome

    Science.gov (United States)

    ... Care Home Health Info Health Topics Burning Mouth Burning Mouth Syndrome (BMS) is a painful, complex condition often described ... or other symptoms. Read More Publications Cover image Burning Mouth Syndrome Publication files Download Language English PDF — Number of ...

  12. Neuroleptic Malignant Syndrome

    Science.gov (United States)

    ... such as neuroleptic malignant syndrome. Much of this research focuses on finding ways to prevent and treat the disorder. Show More Show Less Search Disorders SEARCH SEARCH Definition Treatment Prognosis Clinical Trials Organizations Publications Definition Neuroleptic malignant syndrome is ...

  13. Skin Peeling Syndrome

    Directory of Open Access Journals (Sweden)

    Sharma Rajeev

    2000-01-01

    Full Text Available Peeling of the skin is an uncommonly encountered disorder. Occurrence of vesicles and bullae in peeling skin syndrome is very rare. We report a case of idiopathic peeling skin syndrome with vesicular lesions.

  14. [The Capgras syndrome].

    Science.gov (United States)

    Anikina, M A; Levin, O S

    2013-01-01

    The Capgras syndrome is one of delusional-like misidentification syndrome in which a person holds a delusion that one or several his/her friends or relatives have been replaced by an identical-looking impostor. As any other delusional disorder, the Capgras syndrome is characterized by stability despite the indisputable arguments against fault views. Initially, this syndrome was considered as a presentation of schizophrenia but later it has been described in brain organic disorders, primarily in elderly patients with dementia.

  15. The wellness syndrome

    DEFF Research Database (Denmark)

    Mik-Meyer, Nanna

    2015-01-01

    Klumme. Wellness er blevet et syndrom, og dets symptomer er angst, selvbebrejdelser og skyldfølelse. Kommentar med udgangspunkt i: Carl Cederström & Andre Spicer, "The Wellness Syndrome" (Polity Books, 2015. 200 p.).......Klumme. Wellness er blevet et syndrom, og dets symptomer er angst, selvbebrejdelser og skyldfølelse. Kommentar med udgangspunkt i: Carl Cederström & Andre Spicer, "The Wellness Syndrome" (Polity Books, 2015. 200 p.)....

  16. PRES syndrome

    International Nuclear Information System (INIS)

    Georgiev, R.; Novakova, M.; Balev, B.; Baleva, D.; Nedelchev, K.

    2010-01-01

    Posterior reversible encephalopathy syndrome (PRES) is a clinicoradiological entity characterized by headache, confusion, visual disturbances, seizures and posterior transient changes on neuroimaging. PRES has been described in several conditions including hypertensive encephalopathy, preeclampsia, eclampsia, infections, electrolyte imbalance, hypercalcaemia and use of several drugs. It occurs due to elevated blood pressure which exceeds the autoregulatory capacity of brain vasculature. The posterior circulation supplied by vertibro-basilar system has poor sympathetic innervation and, therefore, is frequently involved. The role of neuroimaging is to establish the initial diagnosis and to exclude other causes of neurological symptoms and signs. NCCT is sufficient to make the diagnosis in a proper clinical setting. MRI features are characteristic and has diagnostic and prognostic value. Diffusion weighted imaging (DWI) can differentiate this condition from ischemia/cytotoxic edema. Differential diagnosis of PRES includes PCA territory infarcts, venous thrombosis, demyelinating disorders, vasculitis and encephalitis. The diagnosis has important implications because the reversibility of the clinico-radiological abnormalities is contingent on the prompt control of blood pressure and/or withdrawing of the offending drug. We describe here a case of PRES in a 12 years old girl with acute lymphoblasts leukaemia, treated with cytostatics-vincristine, pharmorubycin and methotrexate. After 39 days from the beginning of the treatment there are good results in the myelogram and the flowcytometric examination, but the patient made two tonic-clonic seizures. CT and MRI were made and signs of leucoencephalopathy were diagnosed. Several control MRI examinations after cessation of the therapy and disappearance of the neurologic symptoms were made. The normal findings and the clinical course were the reasons for the PRES diagnosis

  17. Postthrombotic syndrome.

    Science.gov (United States)

    Pesavento, Raffaele; Bernardi, Enrico; Concolato, Alessia; Dalla Valle, Fabio; Pagnan, Antonio; Prandoni, Paolo

    2006-10-01

    Despite considerable progress in the diagnosis and treatment of deep vein thrombosis (DVT) of the lower extremities, one of every three patients will develop postthrombotic sequelae within 2 years; these sequelae are severe in approximately 20% of cases and produce considerable socioeconomic consequences. Among factors potentially related to the development of the postthrombotic syndrome (PTS) are older age, obesity, insufficient oral anticoagulant therapy, and recurrent ipsilateral thrombosis. Whether the extent and location of the initial thrombosis are associated with the development of PTS is controversial. Based on recent findings, the lack of vein recanalization within the first 6 months appears to be an important predictor of PTS, whereas the development of transpopliteal venous reflux is not. The diagnosis of PTS can be made on clinical grounds for patients with a history of DVT. The combination of a standardized clinical evaluation with the results of compression ultrasonography and Doppler ultrasound helps diagnose or exclude a previous proximal vein thrombosis. According to the results of recent clinical studies, the prompt administration of adequate compression elastic stockings in patients with symptomatic DVT has the potential to reduce the frequency of late PTS development by half. The management of this condition is demanding and often frustrating. However, when carefully supervised and instructed to wear proper elastic stockings, more than 50% of patients will either remain stable or improve during long-term follow-up. Clinical presentation helps predict the prognosis; the outcome of patients who refer with initially severe manifestations is more favorable than that of patients whose symptoms deteriorate progressively over time.

  18. Cardio-renal syndrome

    OpenAIRE

    Gnanaraj, Joseph; Radhakrishnan, Jai

    2016-01-01

    Cardio-renal syndrome is a commonly encountered problem in clinical practice. Its pathogenesis is not fully understood. The purpose of this article is to highlight the interaction between the cardiovascular system and the renal system and how their interaction results in the complex syndrome of cardio-renal dysfunction. Additionally, we outline the available therapeutic strategies to manage this complex syndrome.

  19. Facts about Down Syndrome

    Science.gov (United States)

    ... monitor children with Down syndrome for these conditions. Treatments Down syndrome is a lifelong condition. Services early in life ... of these services focus on helping children with Down syndrome develop to their ... therapy, and they are typically offered through early intervention ...

  20. Gorlin-goltz syndrome

    International Nuclear Information System (INIS)

    Ahmed, N.; Salman, M.; Mansoor, M.A.

    2007-01-01

    Multiple jaw cysts are a characteristic manifestation of basal cell nevus (Gorlin) syndrome. Gorlin-Goltz syndrome is characterized by symptoms primarily involving the skin, central nervous system, and skeletal system. In 90% of the patients, nevoid basal cell carcinoma syndrome is associated with recurring odontogenic keratocysts. This patient showed recurrent jaw and maxillary cysts, for which he was followed for 2 years. (author)

  1. Sjogren-Larsson Syndrome

    Science.gov (United States)

    ... Or In Memory Of Obituaries Contact Us Donate Sjogren-Larsson Syndrome What causes SLS? SLS is caused by mutations ... methods of diagnosing SLS. Other Clinical Names for Sjogren-Larsson Syndrome Other clinical names of Sjogren-Larsson Syndrome include: ...

  2. Cushing's syndrome during pregnancy

    NARCIS (Netherlands)

    Mulder, W. J.; Berghout, A.; Wiersinga, W. M.

    1990-01-01

    Two cases of Cushing's syndrome during pregnancy are reported, both due to an adrenal adenoma. The association of pregnancy and Cushing's syndrome has up to now been described in 48 patients (including our two cases); Cushing's syndrome was ACTH-independent in 59%, ACTH-dependent in 33%, and of

  3. Polycystic Ovary Syndrome FAQ

    Science.gov (United States)

    ... Ovary Syndrome (PCOS) • What are common signs and symptoms of polycystic ovary syndrome (PCOS)? • What causes PCOS? • What is insulin resistance? • ... with PCOS? •Glossary What are common signs and symptoms of polycystic ovary syndrome (PCOS)? Common PCOS signs and symptoms include the ...

  4. Diagnostik af Dravet syndrom

    DEFF Research Database (Denmark)

    Hansen, Lars Kjaersgård; Rasmussen, Niels Henrik; Ousager, Lilian Bomme

    2010-01-01

    Dravet syndrome is an epileptic syndrome of infancy. We describe the features of two cases with genetically verified SCNA1 mutations. The diagnosis was established rather late in one case. The epilepsies were medically intractable and the symptoms characteristic of Dravet syndrome. The children...

  5. The acute radiation syndrome

    International Nuclear Information System (INIS)

    Souhami Filho, L.

    1985-01-01

    Symptoms and signs from medical aspects resulting from whole body exposure, or in the main part, to ionizing radiation are described. The dose-response relationship is studied and the exposure is divided in three parts: central nervous system syndrome, gastrointestinal syndrome and hematopoietic syndrome. Brief comments about the treatment are reported. (M.A.C.) [pt

  6. DIDMOAD (Wolfram Syndrome

    Directory of Open Access Journals (Sweden)

    Masoud Nashibi

    2016-07-01

    Full Text Available Wolfram syndrome was first described by physician D J Wolfram and Wagener in 1938. This autosomal recessive syndrome is also referred to as DIDMOAD syndrome which stands for Diabetes Insipidus, Insulin Dependent Diabetes Mellitus, Optic Atrophy and Deafness

  7. Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome).

    Science.gov (United States)

    Bresler, Scott C; Padwa, Bonnie L; Granter, Scott R

    2016-06-01

    Nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome (Gorlin syndrome), is a rare autosomal dominantly inherited disorder that is characterized by development of basal cell carcinomas from a young age. Other distinguishing clinical features are seen in a majority of patients, and include keratocystic odontogenic tumors (formerly odontogenic keratocysts) as well as dyskeratotic palmar and plantar pitting. A range of skeletal and other developmental abnormalities are also often seen. The disorder is caused by defects in hedgehog signaling which result in constitutive pathway activity and tumor cell proliferation. As sporadic basal cell carcinomas also commonly harbor hedgehog pathway aberrations, therapeutic agents targeting key signaling constituents have been developed and tested against advanced sporadically occurring tumors or syndromic disease, leading in 2013 to FDA approval of the first hedgehog pathway-targeted small molecule, vismodegib. The elucidation of the molecular pathogenesis of nevoid basal cell carcinoma syndrome has resulted in further understanding of the most common human malignancy.

  8. Gorlin-Goltz Syndrome

    Directory of Open Access Journals (Sweden)

    Padma Pandeshwar

    2012-01-01

    Full Text Available The Gorlin-Goltz syndrome (GGS (the nevoid basal cell carcinoma syndrome—NBCCS is a rare autosomal dominant syndrome caused due to mutations in the PTCH (patched gene found on chromosome arm 9q. The syndrome, characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies, has a high level of penetrance and variable expressiveness. GGS is a multidisciplinary problem, early diagnosis of which allows introduction of secondary prophylaxis and following an appropriate treatment to delay the progress of the syndrome. The following report emphasizes the need for awareness of the diagnostic criteria of this syndrome in cases with no typical skin lesions.

  9. Barth syndrome

    Directory of Open Access Journals (Sweden)

    Clarke Sarah LN

    2013-02-01

    Full Text Available Abstract First described in 1983, Barth syndrome (BTHS is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM, skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA. Fewer than 200 living males are known worldwide, but evidence is accumulating that the disorder is substantially under-diagnosed. Clinical features include variable combinations of the following wide spectrum: dilated cardiomyopathy (DCM, hypertrophic cardiomyopathy (HCM, endocardial fibroelastosis (EFE, left ventricular non-compaction (LVNC, ventricular arrhythmia, sudden cardiac death, prolonged QTc interval, delayed motor milestones, proximal myopathy, lethargy and fatigue, neutropenia (absent to severe; persistent, intermittent or perfectly cyclical, compensatory monocytosis, recurrent bacterial infection, hypoglycaemia, lactic acidosis, growth and pubertal delay, feeding problems, failure to thrive, episodic diarrhoea, characteristic facies, and X-linked family history. Historically regarded as a cardiac disease, BTHS is now considered a multi-system disorder which may be first seen by many different specialists or generalists. Phenotypic breadth and variability present a major challenge to the diagnostician: some children with BTHS have never been neutropenic, whereas others lack increased 3-MGCA and a minority has occult or absent CM. Furthermore, BTHS was first described in 2010 as an unrecognised cause of fetal death. Disabling mutations or deletions of the tafazzin (TAZ gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane. A definitive biochemical test, based on detecting abnormal ratios of different cardiolipin species, was first described in 2008. Key areas of differential diagnosis include metabolic and viral cardiomyopathies, mitochondrial diseases, and many causes of neutropenia and

  10. Abdominal compartment syndrome with acute reperfusion syndrome

    International Nuclear Information System (INIS)

    Maleeva, A.

    2017-01-01

    Abdominal compartment syndrome was recognized clinically in the 19th century when Marey and Burt observed its association with declines in respiratory function. Abdominal compartment syndrome is first used as a medical terminology from Fietsman in a case of ruptured abdominal aortic aneurysm. A condition caused by abnormally increased pressure within the abdomen. Causes of abdominal compartment syndrome include trauma, surgery, or infection. Common symptoms: abdominal distension, fast heart rate, insufficient urine production, or low blood pressure Medical procedure: nasogastric intubation Surgery: laparotomy Specialists: radiologist, primary care provider (PCP), surgeon, and emergency medicine doctor [6, 10]. Keywords: Stomach. Gastroparesis . Diabetes Mellitus [bg

  11. Cardiorenal Syndrome in Acute Heart Failure Syndromes

    Directory of Open Access Journals (Sweden)

    Mohammad Sarraf

    2011-01-01

    Full Text Available Impaired cardiac function leads to activation of the neurohumoral axis, sodium and water retention, congestion and ultimately impaired kidney function. This sequence of events has been termed the Cardiorenal Syndrome. This is different from the increase in cardiovascular complications which occur with primary kidney disease, that is, the so-called Renocardiac Syndrome. The present review discusses the pathogenesis of the Cardiorenal Syndrome followed by the benefits and potential deleterious effects of pharmacological agents that have been used in this setting. The agents discussed are diuretics, aquaretics, natriuretic peptides, vasodilators, inotropes and adenosine α1 receptor antagonists. The potential role of ultrafiltration is also briefly discussed.

  12. Genetics Home Reference: Marfan syndrome

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Marfan syndrome Marfan syndrome Printable PDF Open All Close All Enable Javascript ... Marfan syndrome KidsHealth from Nemours Foundation MalaCards: marfan syndrome Orphanet: Marfan syndrome Your Genes Your Health from Cold Spring ...

  13. Disruption of a Ciliary B9 Protein Complex Causes Meckel Syndrome

    Science.gov (United States)

    Dowdle, William E.; Robinson, Jon F.; Kneist, Andreas; Sirerol-Piquer, M. Salomé; Frints, Suzanna G.M.; Corbit, Kevin C.; Zaghloul, Norran A.; van Lijnschoten, Gesina; Mulders, Leon; Verver, Dideke E.; Zerres, Klaus; Reed, Randall R.; Attié-Bitach, Tania; Johnson, Colin A.; García-Verdugo, José Manuel; Katsanis, Nicholas; Bergmann, Carsten; Reiter, Jeremy F.

    2011-01-01

    Nearly every ciliated organism possesses three B9 domain-containing proteins: MKS1, B9D1, and B9D2. Mutations in human MKS1 cause Meckel syndrome (MKS), a severe ciliopathy characterized by occipital encephalocele, liver ductal plate malformations, polydactyly, and kidney cysts. Mouse mutations in either Mks1 or B9d2 compromise ciliogenesis and result in phenotypes similar to those of MKS. Given the importance of these two B9 proteins to ciliogenesis, we examined the role of the third B9 protein, B9d1. Mice lacking B9d1 displayed polydactyly, kidney cysts, ductal plate malformations, and abnormal patterning of the neural tube, concomitant with compromised ciliogenesis, ciliary protein localization, and Hedgehog (Hh) signal transduction. These data prompted us to screen MKS patients for mutations in B9D1 and B9D2. We identified a homozygous c.301A>C (p.Ser101Arg) B9D2 mutation that segregates with MKS, affects an evolutionarily conserved residue, and is absent from controls. Unlike wild-type B9D2 mRNA, the p.Ser101Arg mutation failed to rescue zebrafish phenotypes induced by the suppression of b9d2. With coimmunoprecipitation and mass spectrometric analyses, we found that Mks1, B9d1, and B9d2 interact physically, but that the p.Ser101Arg mutation abrogates the ability of B9d2 to interact with Mks1, further suggesting that the mutation compromises B9d2 function. Our data indicate that B9d1 is required for normal Hh signaling, ciliogenesis, and ciliary protein localization and that B9d1 and B9d2 are essential components of a B9 protein complex, disruption of which causes MKS. PMID:21763481

  14. Gorlin-goltz syndrome

    Directory of Open Access Journals (Sweden)

    B V Shobha

    2011-01-01

    Full Text Available Gorlin-Goltz syndrome also known as nevoid basal cell carcinoma syndrome (NBCCS is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by keratocystic odontogenic tumors (KCOT in the jaw, multiple basal cell carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic examination in the first decade of life, as KCOTs are usually one of the first manifestations of the NBCCS syndrome. This article reports the case of a 12-year-old girl with Gorlin-Goltz syndrome, emphasizing its clinical and radiographic manifestation. This study highlights the importance of health professionals in the early diagnosis of this syndrome and a multidisciplinary approach to provide a better diagnosis and prognosis.

  15. Mobius syndrome: MRI features

    International Nuclear Information System (INIS)

    Markarian, Maria F.; Villarroel, Gonzalo M.; Nagel, Jorge R.

    2003-01-01

    Purpose: Mobius Syndrome or congenital facial diplegia is associated with paralysis of the lateral gaze movements. This syndrome may include other cranial nerve palsies and be associated to musculoskeletal anomalies. Our objective is to show the MRI findings in Mobius Syndrome. Material and methods: MRI study was performed in 3 patients with clinic diagnosis of Mobius Syndrome. RMI (1.5T); exams included axial FSE (T1 and T2), FLAIR, SE/EPI, GRE/20, sagittal FSE T2 , coronal T1, diffusion, angio MRI and Spectroscopy sequences. Results: The common features of this syndrome found in MRI were: depression or straightening of the floor of the fourth ventricle, brainstem anteroposterior diameter diminution, morphologic alteration of the pons and medulla oblongata and of the hypoglossal nuclei as well as severe micrognathia. Conclusion: The morphologic alterations of Mobius Syndrome can be clearly identified by MRI; this method has proved to be a useful diagnostic examination. (author)

  16. [Menopause and metabolic syndrome].

    Science.gov (United States)

    Meirelles, Ricardo M R

    2014-03-01

    The incidence of cardiovascular disease increases considerably after the menopause. One reason for the increased cardiovascular risk seems to be determined by metabolic syndrome, in which all components (visceral obesity, dyslipidemia, hypertension, and glucose metabolism disorder) are associated with higher incidence of coronary artery disease. After menopause, metabolic syndrome is more prevalent than in premenopausal women, and may plays an important role in the occurrence of myocardial infarction and other atherosclerotic and cardiovascular morbidities. Obesity, an essential component of the metabolic syndrome, is also associated with increased incidence of breast, endometrial, bowel, esophagus, and kidney cancer. The treatment of metabolic syndrome is based on the change in lifestyle and, when necessary, the use of medication directed to its components. In the presence of symptoms of the climacteric syndrome, hormonal therapy, when indicated, will also contribute to the improvement of the metabolic syndrome.

  17. Orofacial syndromes: A review

    Directory of Open Access Journals (Sweden)

    N Shyam Sunder

    2011-01-01

    Full Text Available A syndrome is a set of signs and symptoms that tend to occur together and reflect the presence of a particular disease or an increased chance of developing to a particular disease. There are numerous orofacial syndromes and a thorough knowledge of their manifestations and implications is pertinent in good oral health care delivery. The aim of this review is to describe collective esoteric knowledge, about various malformations and syndromes associated with orofacial region.

  18. Steele Richardson Olszewski syndrome

    Directory of Open Access Journals (Sweden)

    Vijayashree S Gokhale

    2013-01-01

    Full Text Available Parkinson′s disease and its plus syndromes are an important cause of morbidity in the geriatric age group. Its plus syndromes show a myriad of clinical features characterized by progressive symptoms. Here we present a 65-year-old woman with progressive "Parkinsonian-like features," i.e., mask-like face, slowness of all movements and tendency to fall, and difficulty in eye movements, leading to the diagnosis of Steele Richardson Olszewski Syndrome or progressive supranuclear palsy.

  19. Metabolic syndrome and menopause

    OpenAIRE

    Jouyandeh, Zahra; Nayebzadeh, Farnaz; Qorbani, Mostafa; Asadi, Mojgan

    2013-01-01

    Abstract Background The metabolic syndrome is defined as an assemblage of risk factors for cardiovascular diseases, and menopause is associated with an increase in metabolic syndrome prevalence. The aim of this study was to assess the prevalence of metabolic syndrome and its components among postmenopausal women in Tehran, Iran. Methods In this cross-sectional study in menopause clinic in Tehran, 118 postmenopausal women were investigated. We used the adult treatment panel 3 (ATP3) criteria t...

  20. Post cardiac injury syndrome

    DEFF Research Database (Denmark)

    Nielsen, S L; Nielsen, F E

    1991-01-01

    The post-pericardiotomy syndrome is a symptom complex which is similar in many respects to the post-myocardial infarction syndrome and these are summarized under the diagnosis of the Post Cardiac Injury Syndrome (PCIS). This condition, which is observed most frequently after open heart surgery, i...... on the coronary vessels, with cardiac tamponade and chronic pericardial exudate. In the lighter cases, PCIS may be treated with NSAID and, in the more severe cases, with systemic glucocorticoid which has a prompt effect....

  1. A seizuring alagille syndrome

    Directory of Open Access Journals (Sweden)

    Jomon Mathew John

    2017-01-01

    Full Text Available Alagille syndrome is a rare autosomal dominant inherited disorder with incidence of one in 100,000 live births. This syndrome with seizure as a presentation has been rarely reported in Indian studies. We present a 3-month-old infant who presented to us with seizures was found to have a dysmorphic face, jaundice, hepatomegaly, and soft systolic murmur. Infant was stabilized and remained seizure free. A detailed clinical evaluation of a common presentation may reveal a rare syndrome.

  2. Genetics Home Reference: Waardenburg syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Waardenburg syndrome Waardenburg syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Waardenburg syndrome is a group of genetic conditions that can ...

  3. What Is Antiphospholipid Antibody Syndrome?

    Science.gov (United States)

    ... Back To Health Topics / Antiphospholipid Antibody Syndrome Antiphospholipid Antibody Syndrome Also known as What Is Antiphospholipid (AN-te-fos-fo-LIP-id) antibody syndrome (APS) is an autoimmune disorder. Autoimmune disorders ...

  4. What Is Respiratory Distress Syndrome?

    Science.gov (United States)

    ... Home / Respiratory Distress Syndrome Respiratory Distress Syndrome Also known as What Is Respiratory ... This condition is called apnea (AP-ne-ah). Respiratory Distress Syndrome Complications Depending on the severity of ...

  5. Genetics Home Reference: Turner syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Turner syndrome Turner syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Turner syndrome is a chromosomal condition that affects development in ...

  6. Guide to Understanding Pfeiffer Syndrome

    Science.gov (United States)

    ... syndrome occurs more often in children with older fathers. if I have pfeiffer syndrome what are the odds of passing it to my children? p feiffer syndrome is a rare, autosomal dominant disorder, meaning it requires only one parent to ...

  7. Genetics Home Reference: Cockayne syndrome

    Science.gov (United States)

    ... Cockayne syndrome type II is also known as cerebro-oculo-facio-skeletal (COFS) syndrome, and while some ... link) National Institute of Neurological Disorders and Stroke: Cerebro-Oculo-Facio-Skeletal Syndrome Educational Resources (8 links) ...

  8. Genetics Home Reference: MEGDEL syndrome

    Science.gov (United States)

    ... Leigh-like syndrome 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MEGDHEL syndrome SERAC1 ... Topic: Newborn Screening Genetic and Rare Diseases Information Center (1 ...

  9. Genetics Home Reference: Usher syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Usher syndrome Usher syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Usher syndrome is a condition characterized by partial or total ...

  10. Genetics Home Reference: Bartter syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Bartter syndrome Bartter syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Bartter syndrome is a group of very similar kidney disorders ...

  11. Lesch-Nyhan Syndrome

    Science.gov (United States)

    ... National Organization for Rare Disorders (NORD) Purine Research Society See all related organizations Publications Order NINDS Publications Definition Lesch-Nyhan syndrome (LNS) is a rare, inherited ...

  12. SNEDDON’S SYNDROME

    Directory of Open Access Journals (Sweden)

    Valentin Valtchev

    2008-10-01

    Full Text Available Sneddon’s syndrome is usually characterized by the association of an ischemic cerebrovascular disease and a widespread livedo reticularis. The incidence of Sneddon syndrome is 4/1000 000. We present 42-year-old woman with livedo reticularis, recurrence ischaemic cerebrovascular accidents, two repetitive miscarriages and positive anti-2GPi antibodies. Skin biopsy specimens reveal inflammatory changes of small- to medium-sized arteries and subendothelial proliferation and fibrosis. The diagnosis Sneddon syndrome is confirmed by skin biopsy, and MR evidence. We suggest that anti-2GPi antibodies may be pathophysiologically related to the clinical manifestation observed in some patients with Sneddon syndrome.

  13. Fragile X syndrome

    Science.gov (United States)

    ... problems, or intellectual disability may not be present. Symptoms Behavior problems associated with fragile X syndrome include: Autism spectrum disorder Delay in crawling, walking, or twisting Hand flapping ...

  14. [Neurobiology of Tourette Syndrome].

    Science.gov (United States)

    Ünal, Dilek; Akdemir, Devrim

    2016-01-01

    Tourette Syndrome (TS) is a neurodevelopmental disorder characterized by chronic motor and vocal tics. Although it is a common disorder in childhood, the etiology of Tourette Syndrome has not been fully elucidated yet. Studies, -conducted so far- have revealed differences in neurobiological structures of individuals who suffer from Tourette Syndrome. The objective of this review is to assess etiological and pathophysiological studies in the Tourette Syndrome literature. An electronical search was conducted in PubMed database using the keywords tic disorders, Tourette Syndrome, neurobiology, genetics, neuroimaging and animal models. Research and review studies published between 1985 and 2015, with a selection preference towards recent publications, were reviewed. According to the studies, genetic predisposition hypothesis is considered as a priority. However, a precise genetic disorder associated with Tourette Syndrome has not been found. The evidence from postmortem and neuroimaging studies in heterogenous patient groups and animal studies supports the pathological involvement of cortico-striato-thalamo-cortical (CSTC) circuits in Tourette Syndrome. Consequently, the most emphasized hypothesis in the pathophysiology is the dopaminergic dysfunction in these circuits. Furthermore, these findings of the animal, postmortem and neuroimaging studies have confirmed the neurodevelopmental hypothesis of Tourette Syndrome. In conclusion, more studies are needed to understand the etiology of the disorder. The data obtained from neurobiological studies of the disorder will not only shed light on the way of Tourette Syndrome, but also guide studies on its treatment options.

  15. Cushing's syndrome in pregnancy.

    Science.gov (United States)

    Nassi, Rossella; Ladu, Cristina; Vezzosi, Chiara; Mannelli, Massimo

    2015-02-01

    Cushing's syndrome is a rare condition in the general population and is even less common during pregnancy with only a few cases reported in literature. The diagnosis of Cushing's syndrome may be difficult during pregnancy because the typical features of the disorder and pregnancy may overlap. However, Cushing's syndrome results in increased fetal and maternal complications, and diagnosis and treatment are critical. This report describes a case of 26-year-old female at the 19th week of pregnancy with symptoms and signs of hypercortisolism, where ACTH-independent Cushing's syndrome was diagnosed and treated by robotic laparoscopic adrenalectomy at the 21th week of gestation.

  16. Central Pain Syndrome

    Science.gov (United States)

    ... such as neurontin (gabapentin) can be useful. Lowering stress levels appears to reduce pain. View Full Treatment Information Definition Central pain syndrome is a neurological condition caused ...

  17. Effects of variation in background mixing ratios of N2, O2, and Ar on the measurement of δ18O-H2O and δ2H-H2O values by cavity ring-down spectroscopy

    Science.gov (United States)

    Johnson, Jennifer E.; Rella, Chris W.

    2017-08-01

    Cavity ring-down spectrometers have generally been designed to operate under conditions in which the background gas has a constant composition. However, there are a number of observational and experimental situations of interest in which the background gas has a variable composition. In this study, we examine the effect of background gas composition on a cavity ring-down spectrometer that measures δ18O-H2O and δ2H-H2O values based on the amplitude of water isotopologue absorption features around 7184 cm-1 (L2120-i, Picarro, Inc.). For background mixtures balanced with N2, the apparent δ18O values deviate from true values by -0.50 ± 0.001 ‰ O2 %-1 and -0.57 ± 0.001 ‰ Ar %-1, and apparent δ2H values deviate from true values by 0.26 ± 0.004 ‰ O2 %-1 and 0.42 ± 0.004 ‰ Ar %-1. The artifacts are the result of broadening, narrowing, and shifting of both the target absorption lines and strong neighboring lines. While the background-induced isotopic artifacts can largely be corrected with simple empirical or semi-mechanistic models, neither type of model is capable of completely correcting the isotopic artifacts to within the inherent instrument precision. The development of strategies for dynamically detecting and accommodating background variation in N2, O2, and/or Ar would facilitate the application of cavity ring-down spectrometers to a new class of observations and experiments.

  18. Metabolic syndrome in acute coronary syndrome

    International Nuclear Information System (INIS)

    Bhalli, M.A.; Aamir, M.; Mustafa, G.

    2011-01-01

    Objective: To determine the frequency of metabolic syndrome in male patients presenting with acute coronary syndrome Study design: A Descriptive study Place and duration of study: Armed Forces Institute of Cardiology and National Institute of Heart Diseases, Rawalpindi, from October 2007 to September 2008 Patients and Methods: Male patients with acute coronary syndrome (ACS) were included. Patients having angioplasty (PCI), coronary artery bypass surgery in the past and other co-morbid diseases were excluded. All patients were assessed for the presence of five components of metabolic syndrome including hypertension, HDL-Cholesterol and triglycerides, glucose intolerance and abdominal obesity. Systolic, diastolic blood pressures, waist circumference (WC) and body mass index (BMI) were measured. ECG, cardiac enzymes, fasting glucose and lipid profile were also done. Results: A total of 135 male patients of ACS were studied with a mean age of 54.26 +- 11 years. Metabolic syndrome (MS) was present in 55 (40.7%) patients. MS with all five components was documented in 4 (7.27%) while MS with four and three components was seen in 23 (41.81%) and 28 (50.90%) patients respectively. Only 24 (43.63%) patients with MS had diabetes mellitus, remaining 31(56.36%) were non diabetic. Frequencies of diabetes, hypertension and family history of CAD were significantly higher (p<0.05) in patients with metabolic syndrome as compared to patients with normal metabolic status. Conclusion: Metabolic syndrome is fairly common and important risk factor in patients of IHD. Other risk factors like smoking, dyslipidemia, hypertension and diabetes were also frequently found. Public awareness to control the risk factors can reduce the prevalence of CAD in our country. (author)

  19. Metabolic syndrome in acute coronary syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Bhalli, M A; Aamir, M; Mustafa, G [Combined Military Hospital, Abbottabad (Pakistan)

    2011-06-15

    Objective: To determine the frequency of metabolic syndrome in male patients presenting with acute coronary syndrome Study design: A Descriptive study Place and duration of study: Armed Forces Institute of Cardiology and National Institute of Heart Diseases, Rawalpindi, from October 2007 to September 2008 Patients and Methods: Male patients with acute coronary syndrome (ACS) were included. Patients having angioplasty (PCI), coronary artery bypass surgery in the past and other co-morbid diseases were excluded. All patients were assessed for the presence of five components of metabolic syndrome including hypertension, HDL-Cholesterol and triglycerides, glucose intolerance and abdominal obesity. Systolic, diastolic blood pressures, waist circumference (WC) and body mass index (BMI) were measured. ECG, cardiac enzymes, fasting glucose and lipid profile were also done. Results: A total of 135 male patients of ACS were studied with a mean age of 54.26 +- 11 years. Metabolic syndrome (MS) was present in 55 (40.7%) patients. MS with all five components was documented in 4 (7.27%) while MS with four and three components was seen in 23 (41.81%) and 28 (50.90%) patients respectively. Only 24 (43.63%) patients with MS had diabetes mellitus, remaining 31(56.36%) were non diabetic. Frequencies of diabetes, hypertension and family history of CAD were significantly higher (p<0.05) in patients with metabolic syndrome as compared to patients with normal metabolic status. Conclusion: Metabolic syndrome is fairly common and important risk factor in patients of IHD. Other risk factors like smoking, dyslipidemia, hypertension and diabetes were also frequently found. Public awareness to control the risk factors can reduce the prevalence of CAD in our country. (author)

  20. FCC-hh turn-around cycle

    CERN Document Server

    Alemany Fernandez, Reyes; Bartmann, Wolfgang; Buffat, Xavier; Niemi, Arto; Schulte, Daniel; Solfaroli Camillocci, Matteo; Stoel, Linda

    2016-01-01

    The turn-around cycle time of a collider is defined as the time spent between the end of stable beams and the start of the next stable beams period, and its calculation is of fundamental importance. On one side it is a crucial ingredient for the computation of the optimal time spent in luminosity production, which defines the integrated luminosity per fill or store. On the other side, combined with the availability and reliability of the machine, it allows to perform a detailed breakdown of the operational performance of the collider over an operational season, i.e. percentage of time in stable beams and beam in the machine with respect to down time. This paper presents a preliminary operational cycle definition for the hadron-hadron Future Circular Collider, as a base line for estimating the corresponding turn-around time. The cycle definition is based on the Large Hadron Collider (LHC) operational cycle. Two turn-around times are presented, the theoretical one and a more realistic one based on the LHC exper...

  1. IFIN-HH, Scientific Report 1998

    International Nuclear Information System (INIS)

    Andries, Mihai; Dragulici, Cristian; Enescu, Sanda-Elena; Oancea, Margareta; Preda, Mihaela; Prodan, Lucia; Raduta, Adriana; Sandu, Doina; Schiaua, Claudiu

    1999-01-01

    The annual report on 1998 of the Horia Hulubei National Institute for Physics and Nuclear Engineering, presents the Institute's activity in the fields of Theoretical Physics (Nuclear and Atomic Physics, Mathematical Physics, Field Theory, and Particle Physics, and Physics of Information), Experimental Physics (Nuclear Structure, Nuclear Reactions, Atomic Physics, Particle Physics, Cosmic Rays and Nuclear Astrophysics, Inertial Physics, Neutron Physics, and Nuclear Transmutations and Nuclear Instruments and Methods), Biophysics, Applied Physics, Radiation Processing, Tracers and Radiometry, Technological Development, Waste Management and Site Restoration, Standardization. Also, data concerning the Publications, Conferences, Patents, PhD Theses, Scientific Exchanges, Visitors, Invited Seminars, Visits and Seminars abroad are given in appendices. The Report gives also the Directorate, the Heads of Departments and the Research Staff

  2. Polycystic ovary syndrome and metabolic syndrome.

    Science.gov (United States)

    Ali, Aus Tariq

    2015-08-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous disorder, where the main clinical features include menstrual irregularities, sub-fertility, hyperandrogenism, and hirsutism. The prevalence of PCOS depends on ethnicity, environmental and genetic factors, as well as the criteria used to define it. On the other hand, metabolic syndrome is a constellation of metabolic disorders which include mainly abdominal obesity, insulin resistance, impaired glucose metabolism, hypertension and dyslipidaemia. These associated disorders directly increase the risk of Type 2 diabetes mellitus (DMT2), coronary heart disease (CHD), cardiovascular diseases (CVD) and endometrial cancer. Many patients with PCOS have features of metabolic syndrome such as visceral obesity, hyperinsulinaemia and insulin resistance. These place patients with PCOS under high risk of developing cardiovascular disease (CVD), Type 2 diabetes (DMT2) and gynecological cancer, in particular, endometrial cancer. Metabolic syndrome is also increased in infertile women with PCOS. The aim of this review is to provide clear and up to date information about PCOS and its relationship with metabolic syndrome, and the possible interaction between different metabolic disorders.

  3. Wolfram syndrome 1 and Wolfram syndrome 2.

    Science.gov (United States)

    Rigoli, Luciana; Di Bella, Chiara

    2012-08-01

    Wolfram syndrome 1 (WS1) is an autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DI DM OA D syndrome) associated with other variable clinical manifestations. The causative gene for WS1 (WFS1) encoding wolframin maps to chromosome 4p16.1. Wolframin has an important function in maintaining the homeostasis of the endoplasmic reticulum (ER) in pancreatic β cells. Recently, another causative gene, CISD2, has been identified in patients with a type of Wolfram syndrome (WS2) resulting in early optic atrophy, diabetes mellitus, deafness, decreased lifespan, but not diabetes insipidus. The CISD2-encoded protein ERIS (endoplasmic reticulum intermembrane small protein) also localizes to ER, but does not interact directly with wolframin. ERIS maps to chromosome 4q22. Numerous studies have shown an interesting similarity between WFS1 and CISD2 genes. Experimental studies demonstrated that the Cisd2 knockout (Cisd2) mouse shows premature aging and typical symptoms of Wolfram syndrome. These researches provide interesting insight into the relation of neurodegenerative diseases, mitochondrial disorders, and autophagy and are useful for the pathophysiological understanding of both Wolfram syndrome and mitochondrial-mediated premature aging. The knowledge of WS1 and WS2 pathogenesis, and of the interactions between WFS1 and CISD2 genes, is useful for accurate diagnostic classification and for diagnosis of presymptomatic individuals.

  4. Bardet-Biedl syndrome and Usher syndrome.

    Science.gov (United States)

    Koenig, Rainer

    2003-01-01

    Bardet-Biedl syndrome (BBS) and Usher syndrome (USH) are the most prevalent syndromic forms of retinitis pigmentosa (RP), together they make up almost a quarter of the patients with RP. BBS is defined by the association of retinopathy, obesity, hypogonadism, renal dysfunction, postaxial polydactyly and mental retardation. This clinically complex syndrome is genetically heterogeneous with linkage to more than 6 loci, and 4 genes have been cloned so far. Recent molecular data present evidence that, in some instances, the clinical manifestation of BBS requires recessive mutations in 1 of the 6 BBS loci plus one or two additional mutations in a second BBS locus (tri- or tetra-allelic inheritance). USH is characterized by the combination of congenital or early-onset sensorineural deafness, RP, and variable degrees of vestibular dysfunction. Each of the three clinical types is genetically heterogeneous: 7 loci have been mapped for type 1, three loci for type 2, and two loci for type 3. Currently, 6 USH genes (MYO7A, USH1C, CDH23, PCDH15, USH2A, USH3) have been identified. Pathogenetically, mutations of the USH1 genes seem to result in defects of auditory and retinal sensory cells, the USH 2 phenotype is caused by defects of extracellular matrix or cell surface receptor proteins, and USH3 may be due to synaptic disturbances. The considerable contribution of syndromic forms of RP requires interdisciplinary approaches to the clinical and diagnostic management of RP patients.

  5. Alport Syndrome Diagnosis

    Science.gov (United States)

    ... 4 months later, my father walked me down the aisle. We danced to a Beatles song & then to j… Connect on Instagram Email: info@alportsyndrome.org Phone: (480) 800-3510 Mailing Address: Alport syndrome Foundation P.O. Box 4130 ... 5, 2017 Cecil Alport: Naming the Syndrome November 26, 2016 The Renal Diet: Potassium ...

  6. Adult onset Leigh syndrome

    Directory of Open Access Journals (Sweden)

    Pandit Lekha

    2007-01-01

    Full Text Available Leigh syndrome is a rare progressive mitochondrial disorder of oxidative metabolism. Though it has been reported in infancy and childhood, it is rarely described in adults. The authors describe a patient who had clinical and magnetic resonance imaging features diagnostic of Leigh syndrome, with supportive biochemical and muscle histochemistry evidence.

  7. Post-Polio Syndrome

    Science.gov (United States)

    ... You are here Home » Disorders » All Disorders Post-Polio Syndrome Information Page Post-Polio Syndrome Information Page What research is being done? ... behavior of motor neurons many years after a polio attack. Others are looking at the mechanisms of ...

  8. Klippel-Feil Syndrome

    Science.gov (United States)

    ... proteins that are involved in bone development and segmentation of the vertebrae. × Definition Klippel-Feil Syndrome is a rare disorder characterized ... proteins that are involved in bone development and segmentation of the vertebrae. View Full Definition ... Treatment Treatment for Klippel-Feil Syndrome is symptomatic ...

  9. Redefining syndromic surveillance

    Directory of Open Access Journals (Sweden)

    Rebecca Katz

    2011-12-01

    Full Text Available With growing concerns about international spread of disease and expanding use of early disease detection surveillance methods, the field of syndromic surveillance has received increased attention over the last decade. The purpose of this article is to clarify the various meanings that have been assigned to the term syndromic surveillance and to propose a refined categorization of the characteristics of these systems. Existing literature and conference proceedings were examined on syndromic surveillance from 1998 to 2010, focusing on low- and middle-income settings. Based on the 36 unique definitions of syndromic surveillance found in the literature, five commonly accepted principles of syndromic surveillance systems were identified, as well as two fundamental categories: specific and non-specific disease detection. Ultimately, the proposed categorization of syndromic surveillance distinguishes between systems that focus on detecting defined syndromes or outcomes of interest and those that aim to uncover non-specific trends that suggest an outbreak may be occurring. By providing an accurate and comprehensive picture of this field’s capabilities, and differentiating among system types, a unified understanding of the syndromic surveillance field can be developed, encouraging the adoption, investment in, and implementation of these systems in settings that need bolstered surveillance capacity, particularly low- and middle-income countries.

  10. Beckwith-Wiedemann syndrome

    Science.gov (United States)

    ... most common tumors in children with this syndrome. Causes Beckwith-Wiedemann syndrome is caused by a defect ... Fanaroff AA, Walsh MC, eds. Fanaroff and Martin's Neonatal-Perinatal Medicine . 10th ed. ... MA. Hypoglycemia. In: Kliegman RM, Stanton BF, St. Geme JW, ...

  11. Middle East Respiratory Syndrome

    Centers for Disease Control (CDC) Podcasts

    2014-07-07

    This podcast discusses Middle East Respiratory Syndrome, or MERS, a viral respiratory illness caused by Middle East Respiratory Syndrome Coronavirus—MERS-CoV.  Created: 7/7/2014 by National Center for Immunization and Respiratory Diseases (NCIRD).   Date Released: 7/7/2014.

  12. International Rett Syndrome Foundation

    Science.gov (United States)

    ... state Rett Syndrome Handbook Called the “Rett Syndrome Bible”, all the information you need for your journey- available in PDF version. Purchase a hard copy Get 1:1 Support Connect with our Family Empowerment Team , join a special interest network More forms of support Find your Family Empowerment ...

  13. Churg Strauss syndrome

    International Nuclear Information System (INIS)

    Lopez Rengifo, Diana Milena; Contreras Zuniga, Eduardo; Osio, Luis Fernando

    2007-01-01

    The Churg-Strauss syndrome, also called allergic granulomatosis and angiitis, is a multisystem disorder characterized by allergic rhinitis, asthma, and prominent peripheral blood eosinophilia. The most common organ involved is the lung, followed by the skin. The Churg-Strauss syndrome, however, can affect any organ system, including the cardiovascular, gastrointestinal, renal, and central nervous systems

  14. Churg-strauss syndrome

    Directory of Open Access Journals (Sweden)

    Brar B

    2009-01-01

    Full Text Available We report a case of 29-year-old man who presented with cutaneous vasculitis and was subsequently diagnosed as a case of Churg-Strauss syndrome. The patient fulfilled five out of the six criteria of the syndrome developed by American College of Rheumatology.

  15. ACUTE COMPARTMENT SYNDROME

    African Journals Online (AJOL)

    muscle destruction, muscle fibrosis, contractures and permanent disability and at worst case scenario of amputation (3,4). As reported by Frink et al (3) on their study on acute compartment syndrome it can occur even when there is no fracture. Also general surgeons have reported acute compartment syndrome.

  16. Metabolic syndrome and menopause

    Directory of Open Access Journals (Sweden)

    Jouyandeh Zahra

    2013-01-01

    Full Text Available Abstract Background The metabolic syndrome is defined as an assemblage of risk factors for cardiovascular diseases, and menopause is associated with an increase in metabolic syndrome prevalence. The aim of this study was to assess the prevalence of metabolic syndrome and its components among postmenopausal women in Tehran, Iran. Methods In this cross-sectional study in menopause clinic in Tehran, 118 postmenopausal women were investigated. We used the adult treatment panel 3 (ATP3 criteria to classify subjects as having metabolic syndrome. Results Total prevalence of metabolic syndrome among our subjects was 30.1%. Waist circumference, HDL-cholesterol, fasting blood glucose, diastolic blood pressure ,Systolic blood pressure, and triglyceride were significantly higher among women with metabolic syndrome (P-value Conclusions Our study shows that postmenopausal status is associated with an increased risk of metabolic syndrome. Therefore, to prevent cardiovascular disease there is a need to evaluate metabolic syndrome and its components from the time of the menopause.

  17. Shaken Baby Syndrome

    Science.gov (United States)

    ... baby syndrome. Information from the National Library of Medicine’s MedlinePlus Child Abuse × What research is being done? The National ... baby syndrome. Information from the National Library of Medicine’s MedlinePlus Child Abuse See More About Research The National Institute ...

  18. Korsakoff's syndrome is preventable

    NARCIS (Netherlands)

    Oudman, Erik; Wijnia, Jan W.

    2014-01-01

    Wernicke-Korsakoff syndrome (WKS) is a life-threatening neuropsychiatric disorder caused by thiamine (vitamin B1) deficiency. Wernicke-Korsakoff syndrome is associated with mammillary body edema and small vessel ischemia. Many patients who develop WKS have a history of serious alcoholism and

  19. Foix-Chavany syndrome

    International Nuclear Information System (INIS)

    Ferrari, G.; Boninsegna, C.; Beltramello, A.

    1979-01-01

    The Foix-Chavany syndrome is a neurological entity characterized by linguo-bucco-facial apraxia almost always caused by disturbed cerebral circulation. Three typical cases of this syndrome are described and the role of the CT scan to obtain a definite diagnosis is emphasized. (orig.) [de

  20. Usher syndrome in Denmark

    DEFF Research Database (Denmark)

    Shzeena, Dad; Rendtorff, Nanna Dahl; Tranebjærg, Lisbeth

    2016-01-01

    BACKGROUND: Usher syndrome (USH) is a genetically heterogeneous deafness-blindness syndrome, divided into three clinical subtypes: USH1, USH2 and USH3. METHODS: Mutations in 21 out of 26 investigated Danish unrelated individuals with USH were identified, using a combination of molecular diagnostic...

  1. Proteus syndrome in adulthood

    NARCIS (Netherlands)

    Muller, E; Lichtendahl, DHE; Hofer, SOP

    Proteus syndrome is a very rare congenital condition comprising malformations and overgrowth of multiple sorts of tissue. It was described for the first time in 1979 and was termed Proteus syndrome in 1983. The authors describe a 37-year-old patient who was diagnosed initially as having

  2. The stress ulcer syndrome

    NARCIS (Netherlands)

    H.A. van Essen

    1986-01-01

    textabstractThe stress ulcer syndrome is described in this thesis. This syndrome is seen in patients admitted to intensive care departments or being treated in field hospitals, in disaster areas, or battle fields. Acute mucosal lesions associated with burns (Curling's ulcers) and central nervous

  3. Plummer-Vinson syndrome

    Directory of Open Access Journals (Sweden)

    Novacek Gottfried

    2006-09-01

    Full Text Available Abstract Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs. Exact data about epidemiology of the syndrome are not available; the syndrome is extremely rare. Most of the patients are white middle-aged women, in the fourth to seventh decade of life but the syndrome has also been described in children and adolescents. The dysphagia is usually painless and intermittent or progressive over years, limited to solids and sometimes associated with weight loss. Symptoms resulting from anemia (weakness, pallor, fatigue, tachycardia may dominate the clinical picture. Additional features are glossitis, angular cheilitis and koilonychia. Enlargement of the spleen and thyroid may also be observed. One of the most important clinical aspects of Plummer-Vinson syndrome is the association with upper alimentary tract cancers. Etiopathogenesis of Plummer-Vinson syndrome is unknown. The most important possible etiological factor is iron deficiency. Other possible factors include malnutrition, genetic predisposition or autoimmune processes. Plummer-Vinson syndrome can be treated effectively with iron supplementation and mechanical dilation. In case of significant obstruction of the esophageal lumen by esophageal web and persistent dysphagia despite iron supplementation, rupture and dilation of the web are necessary. Since Plummer-Vinson syndrome is associated with an increased risk of squamous cell carcinoma of the pharynx and the esophagus, the patients should be followed closely.

  4. Colitis of Behcet's syndrome

    International Nuclear Information System (INIS)

    O'Connell, D.J.; Courtney, J.V.; Riddell, R.H.

    1980-01-01

    Three patients with Behcet's syndrome and colitis are described. The radiologic and histologic appearances of the colitis are discussed. The similarities of Behcet's colitis to Crohn's disease are outlined. The cases demonstrate the necessity to consider Behcet's syndrome in the differential diagnosis of inflammatory bowel disease. (orig.) [de

  5. Trigeminalt trofisk syndrom--

    DEFF Research Database (Denmark)

    Kjaerskov, Mette Wanscher; Bygum, Anette

    2009-01-01

    Trigeminal trophic syndrome (TTS) is a rare but well-described syndrome consisting of the triad: paraesthesia, anaesthesia and crescent-shaped ulceration of the ala nasi. We report a case of a 62-year-old woman presenting with TTS after operative excision of an acusticus neurinoma. She attended s...

  6. Polycystic ovarian syndrome

    OpenAIRE

    Nina Madnani; Kaleem Khan; Phulrenu Chauhan; Girish Parmar

    2013-01-01

    Polycystic ovarian syndrome (PCOS) is a "multispeciality" disorder suspected in patients with irregular menses and clinical signs of hyperandrogenism such as acne, seborrhoea, hirsutism, irregular menses, infertility, and alopecia. Recently, PCOS has been associated with the metabolic syndrome. Patients may develop obesity, insulin resistance, acanthosis nigricans, Type 2 diabetes, dyslipidemias, hypertension, non-alcoholic liver disease, and obstructive sleep apnoea. Good clinical examinatio...

  7. Rothmund - Thomson Syndrome

    Directory of Open Access Journals (Sweden)

    Sharma N. L

    2003-01-01

    Full Text Available Rothmund-Thomson syndrome is a rare geno-photodermatosis of children. Poikilodermatous cutaneous changes, growth retardation, juvenile cataract and high incidence of malignancy are its classical features. A Thomson type of Rothmund-Thomson syndrome with characteristic poikiloderma congenitale, growth retardation, absence of juvenile cataract and parental non-consanguinity is described in an 8 year old Indian girl.

  8. Yellow nail syndrome

    Directory of Open Access Journals (Sweden)

    Dixit Ramakant

    2007-01-01

    Full Text Available A case of yellow nail syndrome is described in a forty year old male patient who presented with classical triad of this syndrome i.e. deformed yellow nails, lymph-edema and chronic recurrent pleural effusion. The practical problems in the di-agnosis are also briefly discussed with emphasis on awareness of this rare clinical entity.

  9. [The refeeding syndrome].

    Science.gov (United States)

    Lambers, Wietske M; Kraaijenbrink, Bastiaan; Siegert, Carl E H

    2015-01-01

    The refeeding syndrome may occur during reintroduction of carbohydrates in malnourished patients. This syndrome is characterized by reduced plasma electrolyte levels, hypophosphataemia being most prevalent. The symptoms can vary from minor symptoms to severe neurological or cardiac symptoms. The pathophysiological mechanism comprises an increase in insulin levels, resulting in shifts of phosphate, potassium and magnesium into the intracellular environment, as well as fluid retention and relative deficiency of vitamin B1. There is growing interest in the screening and treatment of patients with malnutrition, due to which the incidence of refeeding syndrome is probably increasing. Currently, there is no single definition of this syndrome and therefore there is no solid scientific basis for screening and treatment. In this article we describe the rationale for screening and additional laboratory investigations. A prospective, controlled trial is important to define the clinical relevance of the refeeding syndrome and optimize its treatment.

  10. Lumbar dorsal ramus syndrome.

    Science.gov (United States)

    Bogduk, N

    1980-11-15

    Low back pain, referred pain in the lower limbs, and spasm of the back, gluteal, and hamstring muscles are clinical features which can be induced in normal volunteers by stimulating structures which are innervated by the lumbar dorsal rami. Conversely, they can be relieved in certain patients by selective interruption of conduction along dorsal rami. These facts permit the definition of a lumbar dorsal ramus syndrome, which can be distinguished from the intervertebral disc syndrome and other forms of low back pain. The distinguishing feature is that, in lumbar dorsal ramus syndrome, all the clinical features are exclusively mediated by dorsal rami and do not arise from nerve-root compression. The pathophysiology, pathology, and treatment of this syndrome are described. Recognition of this syndrome, and its treatment with relatively minor procedures, can obviate the need for major surgery which might otherwise be undertaken.

  11. Heterogeneity in Waardenburg syndrome.

    Science.gov (United States)

    Hageman, M J; Delleman, J W

    1977-01-01

    Heterogeneity of Waardenburg syndrome is demonstrated in a review of 1,285 patients from the literature and 34 previously unreported patients in five families in the Netherlands. The syndrome seems to consist of two genetically distinct entities that can be differentiated clinically: type I, Waardenburg syndrome with dystopia canthorum; and type II, Waardenburg syndrome without dystopia canthorum. Both types have an autosomal dominant mode of inheritance. The incidence of bilateral deafness in the two types of the syndrome was found in one-fourth with type I and about half of the patients with type II. This difference has important consequences for genetic counseling. Images Fig. 7 Fig. 8 Fig. 9 PMID:331943

  12. Apert syndrome (acrocephalosyndactyly

    Directory of Open Access Journals (Sweden)

    Milovanović J.

    2014-01-01

    Full Text Available Apert syndrome is named for the French physician, Eugen Apert who was, in 1906. described anomalous shape of the skull with coronary suture synostosis and hypoplasia sphenoethmoidmaxillary part of the face and fingers syndactyly of hands and feet. Apert syndrome accounts for about 4,5% of all craniosynostosis. With the prevalence of 1:160 000-200 000, inherited in an autosomal domi­nant, and in 25% of cases are fresh mutations in the gene. This syndrome has no predilection by gender and race, varies in severity form in witch it is manifested. Anomality of internal organs are very rare, but half of the patients with this syndrome have mental retardation. Apert syndrome has no cure, but surgery can help to correct some of the problems.

  13. Neonatal bartter syndrome

    International Nuclear Information System (INIS)

    Parkash, J.; Salat, S. M.; Khan, I.A.

    2006-01-01

    A pre-term baby girl was born following a pregnancy complicated by severe polyhydramnios at a gestational age of 36 weeks. She was initially suffering from respiratory distress consistent with idiopathic respiratory distress syndrome, and altered electrolyte imbalance with hyponatremia, hypokalemia and hypochloremic metabolic alkalosis. However, during the third week of life when she had dehydration along with significant electrolyte imbalance, Bartter's syndrome was considered which was supported by findings of high renin and aldosterone levels. Treatment was done by correction of electrolytes and dehydration along with indomethacin. The drug was well tolerated. The infant showed correction of electrolyte imbalance. The features of this case suggest an extreme form of Bartter's syndrome presenting from the early days of life. The syndrome is reported because of it's rarity and alerts pediatricians to the antenatal and neonatal variant of Bartter's syndrome. (author)

  14. Syndrome in question: Gorlin-Goltz syndrome.

    Science.gov (United States)

    Ribeiro, Pauline Lyrio; Souza, João Basílio de; Abreu, Karina Demoner de; Brezinscki, Marisa Simon; Pignaton, Christine Chambo

    2016-01-01

    The Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an uncommon disorder caused by a mutation in Patched, tumor suppressor gene. It is mainly characterized by numerous early onset basal cell carcinomas, odontogenic cysts of jaw and skeletal abnormalities. Due to the wide clinical spectrum, treatment and management of its modalities are not standardized and should be individualized and monitored by a multidisciplinary team. We report a typical case in a 30-year-old man with multiple basal cell carcinomas, keratotic pits of palmar creases and bifid ribs, with a history of several corrective surgeries for keratocystic odontogenic tumors, among other lesions characteristic of the syndrome.

  15. [Asthenic syndrome in patients with burnout syndrome].

    Science.gov (United States)

    Chutko, L S; Surushkina, S Iu; Rozhkova, A V; Nikishena, I S; Iakovenko, E A

    2013-01-01

    The authors present the results of a survey of 103 patients aged 25 to 45 years with burnout syndrom. The results showed that most patients with the syndrome of burnout have clinical manifestations of asthenia, varying degrees of severity. According to psychological and psychophysiological examination in this group of patients were found attention and memory dysfunction. This study evaluated the efficacy of memoplant in the treatment of this pathology. The high efficiency of memoplant (improvement in 69.7% of cases) was detected, confirmed by the data of the clinical, psychological and neuropsychological research.

  16. [Association Budd Chiari syndrome, antiphospholipid syndrome and Grave's disease].

    Science.gov (United States)

    Mouelhi, Leila; Chaieb, Mouna; Debbeche, Radhouane; Salem, Mohamed; Sfar, Imene; Trabelsi, Sinda; Gorgi, Yosr; Najjar, Taoufik

    2009-02-01

    Antiphospholipid syndrome is revealed by Budd Chiari syndrome in 5% of the cases. Antiphospholipid syndrome is characterized by venous or arterial thrombosis, foetal loss and positivity of antiphospholipid antibodies, namely lupus anticoagulant, anticardiolipin antibodies and anti-beta2-glycoprotein I. Anticardiolipin antibodies was reported in auto-immune thyroid disorders, particularly in Grave's disease. Antiphospholipid syndrome associated to Grave's disease was reported in only three cases. To describe a case report of association of Grave's disease and antiphospholipid syndrome. We report the first case of Grave's disease associated with antiphospholipid syndrome, revealed by Budd Chiari syndrome. Our observation is particular by the fact that it is about a patient presenting a Grave's disease associated with antiphospholipid syndrome revealed by Budd Chiari syndrome. This triple association has never been reported in literature. Although association between antiphospholipid syndrome and Grave's disease was previously described, further studies evaluating the coexistence of these two affections in the same patient would be useful.

  17. Coexistence of Reverse Capgras Syndrome, Subjective Double and Cotard Syndrome

    Directory of Open Access Journals (Sweden)

    Azadeh Mashayekhi

    2016-01-01

    Full Text Available Misidentification syndrome is a condition in which the person thinks that familiar persons have been replaced with other one. Coexistence of some types of this syndrome has been reported with other psychiatric syndromes. In this report, we present a 47-year-old married man with coexistence of reverse Capgras and subjective double syndromes with Cotard syndrome. There is no previous report of coexistence of these three forms of delusions in a single case.

  18. Genetics Home Reference: Gorlin syndrome

    Science.gov (United States)

    ... for This Condition basal cell nevus syndrome BCNS Gorlin-Goltz syndrome NBCCS nevoid basal cell carcinoma syndrome Related Information ... named? Additional Information & Resources MedlinePlus (2 links) Encyclopedia: Basal Cell Nevus Syndrome Health Topic: Skin Cancer Genetic and Rare Diseases ...

  19. Sjögren syndrome

    Science.gov (United States)

    Xerostomia - Sjögren syndrome; Keratoconjunctivitis sicca - Sjögren; Sicca syndrome ... The cause of Sjögren syndrome is unknown. It is an autoimmune disorder. This means the body attacks healthy tissue by mistake. The syndrome occurs most ...

  20. Genetics Home Reference: Tourette syndrome

    Science.gov (United States)

    ... and Vocal Tic Disorder Gilles de la Tourette Syndrome Gilles de la Tourette's syndrome GTS TD Tourette Disorder Tourette's Disease TS Related ... Additional Information & Resources MedlinePlus (2 links) Encyclopedia: Gilles de la Tourette syndrome Health Topic: Tourette Syndrome Genetic and Rare Diseases ...

  1. Genetics Home Reference: Rett syndrome

    Science.gov (United States)

    ... Genetic Testing Registry: Rett syndrome Other Diagnosis and Management Resources (4 links) Boston Children's Hospital GeneReview: MECP2-Related Disorders MedlinePlus Encyclopedia: Rett Syndrome RettSyndrome.org: Rett Syndrome Clinics General Information from MedlinePlus (5 links) Diagnostic Tests ...

  2. Genetics Home Reference: von Hippel-Lindau syndrome

    Science.gov (United States)

    ... 17 [updated 2015 Aug 6]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  3. Management of Pediatric Tumor Lysis Syndrome

    African Journals Online (AJOL)

    Urate oxidase in prevention and treatment of hyperuricemia associated with lymphoid malignancies. Leukemia. 1997. Nov;11(11):1813-6. 43. Elitek [package insert]. Bridgewater, NJ: Sanofi-. Aventis US LLC; 2009. 44. Pui CH, Mahmoud HH, Wiley JM, Woods GM,. Leverger G, Camitta B, Hastings C, Blaney SM, Relling.

  4. The Marfan syndrome genetics

    Directory of Open Access Journals (Sweden)

    Galina Pungerčič

    2005-05-01

    Full Text Available Background: The Marfan syndrome is an autosomal dominant heritable disorder of connective tissue. It is caused by mutations in the fibrillin-1 gene encoding glycoprotein fibrillin-1, a component of microfibrils of extracellular matrix. Patients with Marfan syndrome show wide spectra of clinical signs, primarily on skeletal, cardiovascular and ocular organ systems. Cardiovascular complications (especially aortic aneurysm and aortic dissection are the most common cause of mortality of Marfan syndrome patients. Discovering genotype-phenotype correlations is complicated because of the large number of mutations reported as well as clinical heterogeneity among individuals with the same mutation. Despite the progress in the knowledge of the molecular nature of Marfan syndrome the diagnosis is still based mainly on the clinical features in the different body systems.Conclusions: Early identification of patient with Marfan syndrome is of considerable importance because of appropriate treatment that can greatly improve life expectancy. Unfortunately, despite the improvement of diagnostic methods, medical and surgical therapy, the mortality due to undiagnosed Marfan syndrome is still high. The present article reviews the molecular genetic studies of Marfan syndrome since the discovery of the mutations in the fibrillin-1 gene.

  5. Loin pain hematuria syndrome.

    Science.gov (United States)

    Taba Taba Vakili, Sahar; Alam, Tausif; Sollinger, Hans

    2014-09-01

    Loin pain hematuria syndrome is a rare disease with a prevalence of ∼0.012%. The most prominent clinical features include periods of severe intermittent or persistent unilateral or bilateral loin pain accompanied by either microscopic or gross hematuria. Patients with loin pain hematuria syndrome initially present with hematuria, flank pain, or most often both hematuria and flank pain. Kidney biopsies from patients with loin pain hematuria typically reveal only minor pathologic abnormalities. Further, loin pain hematuria syndrome is not associated with loss of kidney function or urinary tract infections. Loin pain hematuria syndrome-associated hematuria and pain are postulated to be linked to vascular disease of the kidney, coagulopathy, renal vasospasm with microinfarction, hypersensitivity, complement activation on arterioles, venocalyceal fistula, abnormal ureteral peristalsis, and intratubular deposition of calcium or uric acid microcrystals. Many patients with loin pain hematuria syndrome also meet criteria for a somatoform disorder, and analgesic medications, including narcotics, commonly are used to treat loin pain hematuria syndrome-associated pain. Interventional treatments include renal denervation, kidney autotransplantation, and nephrectomy; however, these methods should be used only as a last resort when less invasive measures have been tried unsuccessfully. In this review article, we discuss and critique current clinical practices related to loin pain hematuria syndrome pathophysiology, diagnosis, treatment, and prognosis. Copyright © 2014 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.

  6. Rare case of nephrotic syndrome: Schimke syndrome.

    Science.gov (United States)

    Pedrosa, Anna Kelly Krislane de Vasconcelos; Torres, Luiz Fernando Oliveira; Silva, Ana Corina Brainer Amorim da; Dantas, Adrianna Barros Leal; Zuntini, Káthia Liliane da Cunha Ribeiro; Aguiar, Lia Cordeiro Bastos

    2016-01-01

    Schimke syndrome corresponds to dysplasia of bone and immunity, associated with progressive renal disease secondary to nephrotic syndrome cortico-resistant, with possible other abnormalities such as hypothyroidism and blond marrow aplasia. It is a rare genetic disorder, with few reports in the literature. The most frequent renal involvement is nephrotic syndrome with focal segmental glomerulosclerosis and progressive renal failure. The objective of this study was to report a case of Schimke syndrome, diagnostic investigation and management of the case. Resumo A síndrome Schimke corresponde à displasia imuno-óssea, associada à doença renal progressiva secundária à síndrome nefrótica córtico-resistente, podendo haver outras anormalidades como hipotireoidismo e aplasia de medula óssea. Trata-se de uma patologia genética rara, com poucos relatos na literatura. O acometimento renal mais frequente é uma síndrome nefrótica por glomeruloesclerose segmentar e focal e falência renal progressiva. O objetivo deste estudo foi relatar um caso de síndrome de Schimke, investigação diagnóstica e condução do caso.

  7. Pediatric Toxic Shock Syndrome

    Directory of Open Access Journals (Sweden)

    Jennifer Yee

    2017-09-01

    Full Text Available Audience: This scenario was developed to educate emergency medicine residents on the diagnosis and management of a pediatric patient with toxic shock syndrome. The case is also appropriate for teaching of medical students and advanced practice providers, as well as a review of the principles of crisis resource management, teamwork, and communication. Introduction: Toxic shock syndrome is a low-frequency, high-acuity scenario requiring timely identification and aggressive management. If patients suffering from this condition are managed incorrectly, they may progress into multi-organ dysfunction and potentially death. Toxic shock syndrome has been associated with Streptococcus and Staphylococcus aureus (Staph. Approximately half of Staph cases are associated with menstruation, which was first described in the 1970s-1980s and was associated with the use of absorbent tampons.1 Group A Streptococcus may cause complications such as necrotizing fasciitis and gangrenous myositis.2 Pediatric patients may present critically ill from toxic shock syndrome. Providers need to perform a thorough history and physical exam to discern the source of infection. Management requires aggressive care with antibiotics and IV fluids. Objectives: By the end of this simulation session, the learner will be able to: 1 Recognize toxic shock syndrome. 2 Review the importance of a thorough physical exam. 3 Discuss management of toxic shock syndrome, including supportive care and the difference in antibiotic choices for streptococcal and staphylococcal toxic shock syndrome. 4 Appropriately disposition a patient suffering from toxic shock syndrome. 5 Communicate effectively with team members and nursing staff during a resuscitation of a critically ill patient. Method: This session was conducted using high-fidelity simulation, followed by a debriefing session and lecture on toxic shock syndrome.

  8. [Norrie syndrome (author's transl)].

    Science.gov (United States)

    Schmitz-Valckenberg, P; Scholz, W

    1977-10-01

    The Norrie syndrome, an x-chromosomal linked, recessive genetic disease, is described using ophthalmologic and genetic examinations of a family in three generations. The main symptom of this syndrome is retinal detachment with hemorrhages, which generally leads to blindness in early childhood. In addition to this, in 25--35% of the cases mental retardation and hearing problems are found. Special significance is to be attached to the differential diagnosis of this syndrome because the vascular proliferation on the retina is a non-specific, secondary reaction in children, which also occurs symptomatically in several other diseases.

  9. Mobious syndrome: MR findings

    Directory of Open Access Journals (Sweden)

    Maskal Revanna Srinivas

    2016-01-01

    Full Text Available Möbius syndrome is an extremely rare congenital disorder. We report a case of Möbius syndrome in a 2-year-old girl with bilateral convergent squint and left-sided facial weakness. The characteristic magnetic resonance imaging (MRI findings of Möbius syndrome, which include absent bilateral abducens nerves and absent left facial nerve, were noted. In addition, there was absence of left anterior inferior cerebellar artery (AICA and absence of bilateral facial colliculi. Clinical features, etiology, and imaging findings are discussed.

  10. Noonan′s Syndrome

    Directory of Open Access Journals (Sweden)

    Yesudian P Devakar

    1995-01-01

    Full Text Available Noonan’s syndrome is characterized by hypertelorism, webbed neck, curly or wooly hair, congenital heart defects, micrognathia and low set ears. A 15 year old male presented with features of Noonan’s syndrome with hypertelorism, cryptorchidism, low hairline, large and low set ears, curly hair, pulmonary stenosis and lentigenes. This case is presented to alert the physicians towards the occurrence of lentigenes, characteristic facies and pulmonary stenosis in the syndrome. A few hitherto unreported associations like macrothelia and high arched palate were also seen.

  11. [Refeeding syndrome: practical issues].

    Science.gov (United States)

    Buzzi, M; Limonta, A; Pichard, C; Stirnemann, J

    2015-10-14

    The refeeding syndrome is frequent and potentially deadly, still it is underdiagnosed. It is defined by clinical and biological manifestations that are seen upon refeeding of malnourished patients. It is the consequence of the transition from catabolism to anabolism. Ions intracellular shift caused by insulin and B1 vitamin deficiency are fundamental in the development of this syndrome. Riskconditions are well summarized by the NICE criteria. To avoid refeeding syndrome, it is fundamental to find and correct any electrolytic deficiency and to give thiamine before starting a slow and progressive oral, enteral or parenteral refeeding.

  12. Gorlin-Goltz Syndrome

    Directory of Open Access Journals (Sweden)

    M K Sunil

    2010-01-01

    Full Text Available Gorlin-Goltz syndrome, also known as basal cell nevus syndrome, is an uncommon autosomal dominant inherited disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts, and musculoskeletal malformation. It is occasionally associated with aggressive basal cell carcinoma and internal malignancies. It is about a muttisystemic process characterized by the presence of multiple pigmented basocellular carcinomas, keratocysts in the jaws, palmar and/or plantar pits and calcification of the falxcerebri. Hence, present a case report and a review of Gorlin-Goltz syndrome.

  13. Bouveret's Syndrome: diagnostic considerations

    International Nuclear Information System (INIS)

    Cooper, S.G.; Sherman, S.B.; Steinhardt, J.E.; Wilson, J.M. Jr.; Richman, A.H.

    1987-01-01

    Bouveret's syndrome is a rare disease entity manifested by the formation of a cholecystoduodenal or choledochoduodenal fistula with passage of a gallstone into the duodenal bulb and subsequent obstruction of the gastric outlet. To date, no report of this entity using computed tomographic (CT) imaging is available. This article presents a case of Bouveret's syndrome with the classic findings on upper gastrointestinal (GI) tract series and a description of the CT manifestations. The literature is reviewed with discussion of the diagnostic approach to patients with Bouveret's syndrome

  14. Dostoevsky and Stendhal's syndrome.

    Science.gov (United States)

    Amâncio, Edson José

    2005-12-01

    Stendhal's syndrome occurs among travelers when they encounter a work of art of great beauty. It is characterized by an altered perception of reality, emotional disturbances, and crises of panic and anxiety with somatization. The patient profile described originally for this syndrome was of particularly sensitive individuals who were admirers of works or art: artists, poets, writers and art students, among others. The Russian writer Fyodor Mikhailovich Dostoevsky suffered from epilepsy and there is evidence that he presented the symptoms of Stendahl's syndrome while contemplating some works of art, particularly when viewing Hans Holbein's masterpiece, Dead Christ, during a visit to the museum in Basle.

  15. Lance-adams syndrome.

    Science.gov (United States)

    Shin, Jun-Hwa; Park, Jong Moon; Kim, A Ram; Shin, Hee Suk; Lee, Eun Shin; Oh, Min-Kyun; Yoon, Chul Ho

    2012-08-01

    It is not common for a patient who survives cardiac arrest to experience significant neurologic impairment such as acute and chronic post-hypoxic myoclonus, known as Lance-Adams syndrome. This syndrome is predominantly characterized by myoclonus that starts days to weeks after cardiopulmonary resuscitation in patients who regained consciousness. Although several cases of LAS were reported, the decisive treatment method has not been established. We report a 43 year old man with Lance-Adams syndrome who showed long-term improvement through treatment with anti-myoclonic agents and participation in a rehabilitation program.

  16. Radiology of syndromes

    International Nuclear Information System (INIS)

    Taybi, H.

    1982-01-01

    In the course of 20 years, the author has investigated the radiological aspects of many different syndromes. 541 of them are listed in this book, together with their typical X-ray pictures. Congenital deformities, genetic diseases, and acquired diseases with typical combinations of sigs and symptoms are presented with information on how to identify them. Clinical manifestations are briefly characterized, and hereditary aspects are mentioned. Pathological characteristics and names of the syndromes are presented. A bibliography is given for every syndrome for those who intend to deepen their knowledge. (orig./MG) [de

  17. Bullous Wells’ syndrome

    Directory of Open Access Journals (Sweden)

    Bengu Cevirgen Cemil

    2016-01-01

    Full Text Available Wells’ syndrome (WS is an uncommon inflammatory skin disease which typically presents single or multiple erythematous and edematous urticarial plaques similar to cellulitis. The lesions may evolve into blue-grey morphea-like lesions and may persist for weeks or months. They ultimately heal without scar. Other clinical presentations reported in literature include papular and nodular and, rarely, bullous eruptions. Previously, bullous Wells’ syndrome was rarely reported in the literature. Herein, we describe a case of a female patient with bullous Wells’ syndrome localized to the upper limbs without any associated disorders.

  18. Acute heart failure syndrome

    African Journals Online (AJOL)

    and the classical syndrome of chronic persistent heart failure develops. The vast ... Flash pulmonary oedema: This is a severely elevated blood pressure with an .... (CPAP or bilevelNPPV) for cardiogenic pulmonary edema (review). Cochrane.

  19. Ellis Von Creveld Syndrome

    Directory of Open Access Journals (Sweden)

    Afshar H

    1999-01-01

    Full Text Available One patient with Ellis Von Creveld syndrome contains: dwarfism, congenital heart"ndisease, ectodermal dysplasia, polyductyly, an abnormally wide labial frenum and maxillary"nmolars with single root.

  20. What Causes Down Syndrome?

    Science.gov (United States)

    ... Division Offices, Branches & Programs Research Areas Training and Recruitment Division of Intramural Research (DIR) Office of the ... launched DS-Connect® as a safe and secure online registry for people with Down syndrome, their families, ...